Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.73212053C>A | CA2625561201 | PSEN1 | c.1117+111C>A (n.1117+111C>A) c.1129+111C>A (n.1129+111C>A) n.1879+111C>A c.*84+111C>A (n.*84+111C>A) n.1555+111C>A c.1009+111C>A (n.1009+111C>A) c.*1073+111C>A (n.*1073+111C>A) n.6679+111C>A c.*1341+111C>A (n.*1341+111C>A) c.944-5073C>A (n.944-5073C>A) c.1172+68C>A (n.1172+68C>A) c.*791+111C>A (n.*791+111C>A) c.*687+111C>A (n.*687+111C>A) c.1030+111C>A (n.1030+111C>A) c.*1218+111C>A (n.*1218+111C>A) c.880+111C>A (n.880+111C>A) c.*1068+111C>A (n.*1068+111C>A) c.*909+111C>A (n.*909+111C>A) c.*569+111C>A (n.*569+111C>A) c.1156+111C>A (n.1156+111C>A) c.*597+111C>A (n.*597+111C>A) n.1527+111C>A n.2840+111C>A n.340+111C>A n.2128+111C>A n.1264+111C>A c.1018+111C>A (n.1018+111C>A) c.853+111C>A (n.853+111C>A) c.1221+111C>A (n.1221+111C>A) c.1209+111C>A (n.1209+111C>A) n.494+111C>A c.956-5073C>A (n.956-5073C>A) | gnomAD v4 |
14 | g.73212053C= | CA2146495463 | PSEN1 | c.1117+111C= (n.1117+111C=) c.1129+111C= (n.1129+111C=) n.1879+111C= c.*84+111C= (n.*84+111C=) n.1555+111C= c.1009+111C= (n.1009+111C=) c.*1073+111C= (n.*1073+111C=) n.6679+111C= c.*1341+111C= (n.*1341+111C=) c.944-5073C= (n.944-5073C=) c.1172+68C= (n.1172+68C=) c.*791+111C= (n.*791+111C=) c.*687+111C= (n.*687+111C=) c.1030+111C= (n.1030+111C=) c.*1218+111C= (n.*1218+111C=) c.880+111C= (n.880+111C=) c.*1068+111C= (n.*1068+111C=) c.*909+111C= (n.*909+111C=) c.*569+111C= (n.*569+111C=) c.1156+111C= (n.1156+111C=) c.*597+111C= (n.*597+111C=) n.1527+111C= n.2840+111C= n.340+111C= n.2128+111C= n.1264+111C= c.1018+111C= (n.1018+111C=) c.853+111C= (n.853+111C=) c.1221+111C= (n.1221+111C=) c.1209+111C= (n.1209+111C=) n.494+111C= c.956-5073C= (n.956-5073C=) | |
14 | g.73212053C>T | CA2146495464 | PSEN1 | c.1117+111C>T (n.1117+111C>T) c.1129+111C>T (n.1129+111C>T) n.1879+111C>T c.*84+111C>T (n.*84+111C>T) n.1555+111C>T c.1009+111C>T (n.1009+111C>T) c.*1073+111C>T (n.*1073+111C>T) n.6679+111C>T c.*1341+111C>T (n.*1341+111C>T) c.944-5073C>T (n.944-5073C>T) c.1172+68C>T (n.1172+68C>T) c.*791+111C>T (n.*791+111C>T) c.*687+111C>T (n.*687+111C>T) c.1030+111C>T (n.1030+111C>T) c.*1218+111C>T (n.*1218+111C>T) c.880+111C>T (n.880+111C>T) c.*1068+111C>T (n.*1068+111C>T) c.*909+111C>T (n.*909+111C>T) c.*569+111C>T (n.*569+111C>T) c.1156+111C>T (n.1156+111C>T) c.*597+111C>T (n.*597+111C>T) n.1527+111C>T n.2840+111C>T n.340+111C>T n.2128+111C>T n.1264+111C>T c.1018+111C>T (n.1018+111C>T) c.853+111C>T (n.853+111C>T) c.1221+111C>T (n.1221+111C>T) c.1209+111C>T (n.1209+111C>T) n.494+111C>T c.956-5073C>T (n.956-5073C>T) | dbSNP gnomAD v4 |
14 | g.73212054A= | CA2146495466 | PSEN1 | c.1117+112A= (n.1117+112A=) c.1129+112A= (n.1129+112A=) n.1879+112A= c.*84+112A= (n.*84+112A=) n.1555+112A= c.1009+112A= (n.1009+112A=) c.*1073+112A= (n.*1073+112A=) n.6679+112A= c.*1341+112A= (n.*1341+112A=) c.944-5072A= (n.944-5072A=) c.1172+69A= (n.1172+69A=) c.*791+112A= (n.*791+112A=) c.*687+112A= (n.*687+112A=) c.1030+112A= (n.1030+112A=) c.*1218+112A= (n.*1218+112A=) c.880+112A= (n.880+112A=) c.*1068+112A= (n.*1068+112A=) c.*909+112A= (n.*909+112A=) c.*569+112A= (n.*569+112A=) c.1156+112A= (n.1156+112A=) c.*597+112A= (n.*597+112A=) n.1527+112A= n.2840+112A= n.340+112A= n.2128+112A= n.1264+112A= c.1018+112A= (n.1018+112A=) c.853+112A= (n.853+112A=) c.1221+112A= (n.1221+112A=) c.1209+112A= (n.1209+112A=) n.494+112A= c.956-5072A= (n.956-5072A=) | |
14 | g.73212054A>C | CA2625561202 | PSEN1 | c.1117+112A>C (n.1117+112A>C) c.1129+112A>C (n.1129+112A>C) n.1879+112A>C c.*84+112A>C (n.*84+112A>C) n.1555+112A>C c.1009+112A>C (n.1009+112A>C) c.*1073+112A>C (n.*1073+112A>C) n.6679+112A>C c.*1341+112A>C (n.*1341+112A>C) c.944-5072A>C (n.944-5072A>C) c.1172+69A>C (n.1172+69A>C) c.*791+112A>C (n.*791+112A>C) c.*687+112A>C (n.*687+112A>C) c.1030+112A>C (n.1030+112A>C) c.*1218+112A>C (n.*1218+112A>C) c.880+112A>C (n.880+112A>C) c.*1068+112A>C (n.*1068+112A>C) c.*909+112A>C (n.*909+112A>C) c.*569+112A>C (n.*569+112A>C) c.1156+112A>C (n.1156+112A>C) c.*597+112A>C (n.*597+112A>C) n.1527+112A>C n.2840+112A>C n.340+112A>C n.2128+112A>C n.1264+112A>C c.1018+112A>C (n.1018+112A>C) c.853+112A>C (n.853+112A>C) c.1221+112A>C (n.1221+112A>C) c.1209+112A>C (n.1209+112A>C) n.494+112A>C c.956-5072A>C (n.956-5072A>C) | gnomAD v4 |
14 | g.73212054A>G | CA262618843 | PSEN1 | c.1117+112A>G (n.1117+112A>G) c.1129+112A>G (n.1129+112A>G) n.1879+112A>G c.*84+112A>G (n.*84+112A>G) n.1555+112A>G c.1009+112A>G (n.1009+112A>G) c.*1073+112A>G (n.*1073+112A>G) n.6679+112A>G c.*1341+112A>G (n.*1341+112A>G) c.944-5072A>G (n.944-5072A>G) c.1172+69A>G (n.1172+69A>G) c.*791+112A>G (n.*791+112A>G) c.*687+112A>G (n.*687+112A>G) c.1030+112A>G (n.1030+112A>G) c.*1218+112A>G (n.*1218+112A>G) c.880+112A>G (n.880+112A>G) c.*1068+112A>G (n.*1068+112A>G) c.*909+112A>G (n.*909+112A>G) c.*569+112A>G (n.*569+112A>G) c.1156+112A>G (n.1156+112A>G) c.*597+112A>G (n.*597+112A>G) n.1527+112A>G n.2840+112A>G n.340+112A>G n.2128+112A>G n.1264+112A>G c.1018+112A>G (n.1018+112A>G) c.853+112A>G (n.853+112A>G) c.1221+112A>G (n.1221+112A>G) c.1209+112A>G (n.1209+112A>G) n.494+112A>G c.956-5072A>G (n.956-5072A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212054A>T | CA964614444 | PSEN1 | c.1117+112A>T (n.1117+112A>T) c.1129+112A>T (n.1129+112A>T) n.1879+112A>T c.*84+112A>T (n.*84+112A>T) n.1555+112A>T c.1009+112A>T (n.1009+112A>T) c.*1073+112A>T (n.*1073+112A>T) n.6679+112A>T c.*1341+112A>T (n.*1341+112A>T) c.944-5072A>T (n.944-5072A>T) c.1172+69A>T (n.1172+69A>T) c.*791+112A>T (n.*791+112A>T) c.*687+112A>T (n.*687+112A>T) c.1030+112A>T (n.1030+112A>T) c.*1218+112A>T (n.*1218+112A>T) c.880+112A>T (n.880+112A>T) c.*1068+112A>T (n.*1068+112A>T) c.*909+112A>T (n.*909+112A>T) c.*569+112A>T (n.*569+112A>T) c.1156+112A>T (n.1156+112A>T) c.*597+112A>T (n.*597+112A>T) n.1527+112A>T n.2840+112A>T n.340+112A>T n.2128+112A>T n.1264+112A>T c.1018+112A>T (n.1018+112A>T) c.853+112A>T (n.853+112A>T) c.1221+112A>T (n.1221+112A>T) c.1209+112A>T (n.1209+112A>T) n.494+112A>T c.956-5072A>T (n.956-5072A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212055T>C | CA262618846 | PSEN1 | c.1117+113T>C (n.1117+113T>C) c.1129+113T>C (n.1129+113T>C) n.1879+113T>C c.*84+113T>C (n.*84+113T>C) n.1555+113T>C c.1009+113T>C (n.1009+113T>C) c.*1073+113T>C (n.*1073+113T>C) n.6679+113T>C c.*1341+113T>C (n.*1341+113T>C) c.944-5071T>C (n.944-5071T>C) c.1172+70T>C (n.1172+70T>C) c.*791+113T>C (n.*791+113T>C) c.*687+113T>C (n.*687+113T>C) c.1030+113T>C (n.1030+113T>C) c.*1218+113T>C (n.*1218+113T>C) c.880+113T>C (n.880+113T>C) c.*1068+113T>C (n.*1068+113T>C) c.*909+113T>C (n.*909+113T>C) c.*569+113T>C (n.*569+113T>C) c.1156+113T>C (n.1156+113T>C) c.*597+113T>C (n.*597+113T>C) n.1527+113T>C n.2840+113T>C n.340+113T>C n.2128+113T>C n.1264+113T>C c.1018+113T>C (n.1018+113T>C) c.853+113T>C (n.853+113T>C) c.1221+113T>C (n.1221+113T>C) c.1209+113T>C (n.1209+113T>C) n.494+113T>C c.956-5071T>C (n.956-5071T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212055T= | CA2146495468 | PSEN1 | c.1117+113T= (n.1117+113T=) c.1129+113T= (n.1129+113T=) n.1879+113T= c.*84+113T= (n.*84+113T=) n.1555+113T= c.1009+113T= (n.1009+113T=) c.*1073+113T= (n.*1073+113T=) n.6679+113T= c.*1341+113T= (n.*1341+113T=) c.944-5071T= (n.944-5071T=) c.1172+70T= (n.1172+70T=) c.*791+113T= (n.*791+113T=) c.*687+113T= (n.*687+113T=) c.1030+113T= (n.1030+113T=) c.*1218+113T= (n.*1218+113T=) c.880+113T= (n.880+113T=) c.*1068+113T= (n.*1068+113T=) c.*909+113T= (n.*909+113T=) c.*569+113T= (n.*569+113T=) c.1156+113T= (n.1156+113T=) c.*597+113T= (n.*597+113T=) n.1527+113T= n.2840+113T= n.340+113T= n.2128+113T= n.1264+113T= c.1018+113T= (n.1018+113T=) c.853+113T= (n.853+113T=) c.1221+113T= (n.1221+113T=) c.1209+113T= (n.1209+113T=) n.494+113T= c.956-5071T= (n.956-5071T=) | |
14 | g.73212056G>A | CA708388891 | PSEN1 | c.1117+114G>A (n.1117+114G>A) c.1129+114G>A (n.1129+114G>A) n.1879+114G>A c.*84+114G>A (n.*84+114G>A) n.1555+114G>A c.1009+114G>A (n.1009+114G>A) c.*1073+114G>A (n.*1073+114G>A) n.6679+114G>A c.*1341+114G>A (n.*1341+114G>A) c.944-5070G>A (n.944-5070G>A) c.1172+71G>A (n.1172+71G>A) c.*791+114G>A (n.*791+114G>A) c.*687+114G>A (n.*687+114G>A) c.1030+114G>A (n.1030+114G>A) c.*1218+114G>A (n.*1218+114G>A) c.880+114G>A (n.880+114G>A) c.*1068+114G>A (n.*1068+114G>A) c.*909+114G>A (n.*909+114G>A) c.*569+114G>A (n.*569+114G>A) c.1156+114G>A (n.1156+114G>A) c.*597+114G>A (n.*597+114G>A) n.1527+114G>A n.2840+114G>A n.340+114G>A n.2128+114G>A n.1264+114G>A c.1018+114G>A (n.1018+114G>A) c.853+114G>A (n.853+114G>A) c.1221+114G>A (n.1221+114G>A) c.1209+114G>A (n.1209+114G>A) n.494+114G>A c.956-5070G>A (n.956-5070G>A) | dbSNP gnomAD v4 |
14 | g.73212056G= | CA2146495470 | PSEN1 | c.1117+114G= (n.1117+114G=) c.1129+114G= (n.1129+114G=) n.1879+114G= c.*84+114G= (n.*84+114G=) n.1555+114G= c.1009+114G= (n.1009+114G=) c.*1073+114G= (n.*1073+114G=) n.6679+114G= c.*1341+114G= (n.*1341+114G=) c.944-5070G= (n.944-5070G=) c.1172+71G= (n.1172+71G=) c.*791+114G= (n.*791+114G=) c.*687+114G= (n.*687+114G=) c.1030+114G= (n.1030+114G=) c.*1218+114G= (n.*1218+114G=) c.880+114G= (n.880+114G=) c.*1068+114G= (n.*1068+114G=) c.*909+114G= (n.*909+114G=) c.*569+114G= (n.*569+114G=) c.1156+114G= (n.1156+114G=) c.*597+114G= (n.*597+114G=) n.1527+114G= n.2840+114G= n.340+114G= n.2128+114G= n.1264+114G= c.1018+114G= (n.1018+114G=) c.853+114G= (n.853+114G=) c.1221+114G= (n.1221+114G=) c.1209+114G= (n.1209+114G=) n.494+114G= c.956-5070G= (n.956-5070G=) | |
14 | g.73212056G>T | CA964614446 | PSEN1 | c.1117+114G>T (n.1117+114G>T) c.1129+114G>T (n.1129+114G>T) n.1879+114G>T c.*84+114G>T (n.*84+114G>T) n.1555+114G>T c.1009+114G>T (n.1009+114G>T) c.*1073+114G>T (n.*1073+114G>T) n.6679+114G>T c.*1341+114G>T (n.*1341+114G>T) c.944-5070G>T (n.944-5070G>T) c.1172+71G>T (n.1172+71G>T) c.*791+114G>T (n.*791+114G>T) c.*687+114G>T (n.*687+114G>T) c.1030+114G>T (n.1030+114G>T) c.*1218+114G>T (n.*1218+114G>T) c.880+114G>T (n.880+114G>T) c.*1068+114G>T (n.*1068+114G>T) c.*909+114G>T (n.*909+114G>T) c.*569+114G>T (n.*569+114G>T) c.1156+114G>T (n.1156+114G>T) c.*597+114G>T (n.*597+114G>T) n.1527+114G>T n.2840+114G>T n.340+114G>T n.2128+114G>T n.1264+114G>T c.1018+114G>T (n.1018+114G>T) c.853+114G>T (n.853+114G>T) c.1221+114G>T (n.1221+114G>T) c.1209+114G>T (n.1209+114G>T) n.494+114G>T c.956-5070G>T (n.956-5070G>T) | gnomAD v3 gnomAD v4 |
14 | g.73212057T>A | CA2625561207 | PSEN1 | c.1117+115T>A (n.1117+115T>A) c.1129+115T>A (n.1129+115T>A) n.1879+115T>A c.*84+115T>A (n.*84+115T>A) n.1555+115T>A c.1009+115T>A (n.1009+115T>A) c.*1073+115T>A (n.*1073+115T>A) n.6679+115T>A c.*1341+115T>A (n.*1341+115T>A) c.944-5069T>A (n.944-5069T>A) c.1172+72T>A (n.1172+72T>A) c.*791+115T>A (n.*791+115T>A) c.*687+115T>A (n.*687+115T>A) c.1030+115T>A (n.1030+115T>A) c.*1218+115T>A (n.*1218+115T>A) c.880+115T>A (n.880+115T>A) c.*1068+115T>A (n.*1068+115T>A) c.*909+115T>A (n.*909+115T>A) c.*569+115T>A (n.*569+115T>A) c.1156+115T>A (n.1156+115T>A) c.*597+115T>A (n.*597+115T>A) n.1527+115T>A n.2840+115T>A n.340+115T>A n.2128+115T>A n.1264+115T>A c.1018+115T>A (n.1018+115T>A) c.853+115T>A (n.853+115T>A) c.1221+115T>A (n.1221+115T>A) c.1209+115T>A (n.1209+115T>A) n.494+115T>A c.956-5069T>A (n.956-5069T>A) | gnomAD v4 |
14 | g.73212059A>C | CA2625561208 | PSEN1 | c.1117+117A>C (n.1117+117A>C) c.1129+117A>C (n.1129+117A>C) n.1879+117A>C c.*84+117A>C (n.*84+117A>C) n.1555+117A>C c.1009+117A>C (n.1009+117A>C) c.*1073+117A>C (n.*1073+117A>C) n.6679+117A>C c.*1341+117A>C (n.*1341+117A>C) c.944-5067A>C (n.944-5067A>C) c.1172+74A>C (n.1172+74A>C) c.*791+117A>C (n.*791+117A>C) c.*687+117A>C (n.*687+117A>C) c.1030+117A>C (n.1030+117A>C) c.*1218+117A>C (n.*1218+117A>C) c.880+117A>C (n.880+117A>C) c.*1068+117A>C (n.*1068+117A>C) c.*909+117A>C (n.*909+117A>C) c.*569+117A>C (n.*569+117A>C) c.1156+117A>C (n.1156+117A>C) c.*597+117A>C (n.*597+117A>C) n.1527+117A>C n.2840+117A>C n.340+117A>C n.2128+117A>C n.1264+117A>C c.1018+117A>C (n.1018+117A>C) c.853+117A>C (n.853+117A>C) c.1221+117A>C (n.1221+117A>C) c.1209+117A>C (n.1209+117A>C) n.494+117A>C c.956-5067A>C (n.956-5067A>C) | gnomAD v4 |
14 | g.73212059A>T | CA2625561210 | PSEN1 | c.1117+117A>T (n.1117+117A>T) c.1129+117A>T (n.1129+117A>T) n.1879+117A>T c.*84+117A>T (n.*84+117A>T) n.1555+117A>T c.1009+117A>T (n.1009+117A>T) c.*1073+117A>T (n.*1073+117A>T) n.6679+117A>T c.*1341+117A>T (n.*1341+117A>T) c.944-5067A>T (n.944-5067A>T) c.1172+74A>T (n.1172+74A>T) c.*791+117A>T (n.*791+117A>T) c.*687+117A>T (n.*687+117A>T) c.1030+117A>T (n.1030+117A>T) c.*1218+117A>T (n.*1218+117A>T) c.880+117A>T (n.880+117A>T) c.*1068+117A>T (n.*1068+117A>T) c.*909+117A>T (n.*909+117A>T) c.*569+117A>T (n.*569+117A>T) c.1156+117A>T (n.1156+117A>T) c.*597+117A>T (n.*597+117A>T) n.1527+117A>T n.2840+117A>T n.340+117A>T n.2128+117A>T n.1264+117A>T c.1018+117A>T (n.1018+117A>T) c.853+117A>T (n.853+117A>T) c.1221+117A>T (n.1221+117A>T) c.1209+117A>T (n.1209+117A>T) n.494+117A>T c.956-5067A>T (n.956-5067A>T) | gnomAD v4 |
14 | g.73212060C>A | CA2625561214 | PSEN1 | c.1117+118C>A (n.1117+118C>A) c.1129+118C>A (n.1129+118C>A) n.1879+118C>A c.*84+118C>A (n.*84+118C>A) n.1555+118C>A c.1009+118C>A (n.1009+118C>A) c.*1073+118C>A (n.*1073+118C>A) n.6679+118C>A c.*1341+118C>A (n.*1341+118C>A) c.944-5066C>A (n.944-5066C>A) c.1172+75C>A (n.1172+75C>A) c.*791+118C>A (n.*791+118C>A) c.*687+118C>A (n.*687+118C>A) c.1030+118C>A (n.1030+118C>A) c.*1218+118C>A (n.*1218+118C>A) c.880+118C>A (n.880+118C>A) c.*1068+118C>A (n.*1068+118C>A) c.*909+118C>A (n.*909+118C>A) c.*569+118C>A (n.*569+118C>A) c.1156+118C>A (n.1156+118C>A) c.*597+118C>A (n.*597+118C>A) n.1527+118C>A n.2840+118C>A n.340+118C>A n.2128+118C>A n.1264+118C>A c.1018+118C>A (n.1018+118C>A) c.853+118C>A (n.853+118C>A) c.1221+118C>A (n.1221+118C>A) c.1209+118C>A (n.1209+118C>A) n.494+118C>A c.956-5066C>A (n.956-5066C>A) | gnomAD v4 |
14 | g.73212060C= | CA2146495473 | PSEN1 | c.1117+118C= (n.1117+118C=) c.1129+118C= (n.1129+118C=) n.1879+118C= c.*84+118C= (n.*84+118C=) n.1555+118C= c.1009+118C= (n.1009+118C=) c.*1073+118C= (n.*1073+118C=) n.6679+118C= c.*1341+118C= (n.*1341+118C=) c.944-5066C= (n.944-5066C=) c.1172+75C= (n.1172+75C=) c.*791+118C= (n.*791+118C=) c.*687+118C= (n.*687+118C=) c.1030+118C= (n.1030+118C=) c.*1218+118C= (n.*1218+118C=) c.880+118C= (n.880+118C=) c.*1068+118C= (n.*1068+118C=) c.*909+118C= (n.*909+118C=) c.*569+118C= (n.*569+118C=) c.1156+118C= (n.1156+118C=) c.*597+118C= (n.*597+118C=) n.1527+118C= n.2840+118C= n.340+118C= n.2128+118C= n.1264+118C= c.1018+118C= (n.1018+118C=) c.853+118C= (n.853+118C=) c.1221+118C= (n.1221+118C=) c.1209+118C= (n.1209+118C=) n.494+118C= c.956-5066C= (n.956-5066C=) | |
14 | g.73212060C>G | CA2146495472 | PSEN1 | c.1117+118C>G (n.1117+118C>G) c.1129+118C>G (n.1129+118C>G) n.1879+118C>G c.*84+118C>G (n.*84+118C>G) n.1555+118C>G c.1009+118C>G (n.1009+118C>G) c.*1073+118C>G (n.*1073+118C>G) n.6679+118C>G c.*1341+118C>G (n.*1341+118C>G) c.944-5066C>G (n.944-5066C>G) c.1172+75C>G (n.1172+75C>G) c.*791+118C>G (n.*791+118C>G) c.*687+118C>G (n.*687+118C>G) c.1030+118C>G (n.1030+118C>G) c.*1218+118C>G (n.*1218+118C>G) c.880+118C>G (n.880+118C>G) c.*1068+118C>G (n.*1068+118C>G) c.*909+118C>G (n.*909+118C>G) c.*569+118C>G (n.*569+118C>G) c.1156+118C>G (n.1156+118C>G) c.*597+118C>G (n.*597+118C>G) n.1527+118C>G n.2840+118C>G n.340+118C>G n.2128+118C>G n.1264+118C>G c.1018+118C>G (n.1018+118C>G) c.853+118C>G (n.853+118C>G) c.1221+118C>G (n.1221+118C>G) c.1209+118C>G (n.1209+118C>G) n.494+118C>G c.956-5066C>G (n.956-5066C>G) | dbSNP gnomAD v4 |
14 | g.73212060C>T | CA615000713 | PSEN1 | c.1117+118C>T (n.1117+118C>T) c.1129+118C>T (n.1129+118C>T) n.1879+118C>T c.*84+118C>T (n.*84+118C>T) n.1555+118C>T c.1009+118C>T (n.1009+118C>T) c.*1073+118C>T (n.*1073+118C>T) n.6679+118C>T c.*1341+118C>T (n.*1341+118C>T) c.944-5066C>T (n.944-5066C>T) c.1172+75C>T (n.1172+75C>T) c.*791+118C>T (n.*791+118C>T) c.*687+118C>T (n.*687+118C>T) c.1030+118C>T (n.1030+118C>T) c.*1218+118C>T (n.*1218+118C>T) c.880+118C>T (n.880+118C>T) c.*1068+118C>T (n.*1068+118C>T) c.*909+118C>T (n.*909+118C>T) c.*569+118C>T (n.*569+118C>T) c.1156+118C>T (n.1156+118C>T) c.*597+118C>T (n.*597+118C>T) n.1527+118C>T n.2840+118C>T n.340+118C>T n.2128+118C>T n.1264+118C>T c.1018+118C>T (n.1018+118C>T) c.853+118C>T (n.853+118C>T) c.1221+118C>T (n.1221+118C>T) c.1209+118C>T (n.1209+118C>T) n.494+118C>T c.956-5066C>T (n.956-5066C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212061T>C | CA708388892 | PSEN1 | c.1117+119T>C (n.1117+119T>C) c.1129+119T>C (n.1129+119T>C) n.1879+119T>C c.*84+119T>C (n.*84+119T>C) n.1555+119T>C c.1009+119T>C (n.1009+119T>C) c.*1073+119T>C (n.*1073+119T>C) n.6679+119T>C c.*1341+119T>C (n.*1341+119T>C) c.944-5065T>C (n.944-5065T>C) c.1172+76T>C (n.1172+76T>C) c.*791+119T>C (n.*791+119T>C) c.*687+119T>C (n.*687+119T>C) c.1030+119T>C (n.1030+119T>C) c.*1218+119T>C (n.*1218+119T>C) c.880+119T>C (n.880+119T>C) c.*1068+119T>C (n.*1068+119T>C) c.*909+119T>C (n.*909+119T>C) c.*569+119T>C (n.*569+119T>C) c.1156+119T>C (n.1156+119T>C) c.*597+119T>C (n.*597+119T>C) n.1527+119T>C n.2840+119T>C n.340+119T>C n.2128+119T>C n.1264+119T>C c.1018+119T>C (n.1018+119T>C) c.853+119T>C (n.853+119T>C) c.1221+119T>C (n.1221+119T>C) c.1209+119T>C (n.1209+119T>C) n.494+119T>C c.956-5065T>C (n.956-5065T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212061T= | CA2146495474 | PSEN1 | c.1117+119T= (n.1117+119T=) c.1129+119T= (n.1129+119T=) n.1879+119T= c.*84+119T= (n.*84+119T=) n.1555+119T= c.1009+119T= (n.1009+119T=) c.*1073+119T= (n.*1073+119T=) n.6679+119T= c.*1341+119T= (n.*1341+119T=) c.944-5065T= (n.944-5065T=) c.1172+76T= (n.1172+76T=) c.*791+119T= (n.*791+119T=) c.*687+119T= (n.*687+119T=) c.1030+119T= (n.1030+119T=) c.*1218+119T= (n.*1218+119T=) c.880+119T= (n.880+119T=) c.*1068+119T= (n.*1068+119T=) c.*909+119T= (n.*909+119T=) c.*569+119T= (n.*569+119T=) c.1156+119T= (n.1156+119T=) c.*597+119T= (n.*597+119T=) n.1527+119T= n.2840+119T= n.340+119T= n.2128+119T= n.1264+119T= c.1018+119T= (n.1018+119T=) c.853+119T= (n.853+119T=) c.1221+119T= (n.1221+119T=) c.1209+119T= (n.1209+119T=) n.494+119T= c.956-5065T= (n.956-5065T=) | |
14 | g.73212062_73212068dup | CA2729783193 | PSEN1 | c.1117+120_1117+126dup (n.1117+120_1117+126dup) c.1129+120_1129+126dup (n.1129+120_1129+126dup) n.1879+120_1879+126dup c.*84+120_*84+126dup (n.*84+120_*84+126dup) n.1555+120_1555+126dup c.1009+120_1009+126dup (n.1009+120_1009+126dup) c.*1073+120_*1073+126dup (n.*1073+120_*1073+126dup) n.6679+120_6679+126dup c.*1341+120_*1341+126dup (n.*1341+120_*1341+126dup) c.944-5064_944-5058dup (n.944-5064_944-5058dup) c.1172+77_1172+83dup (n.1172+77_1172+83dup) c.*791+120_*791+126dup (n.*791+120_*791+126dup) c.*687+120_*687+126dup (n.*687+120_*687+126dup) c.1030+120_1030+126dup (n.1030+120_1030+126dup) c.*1218+120_*1218+126dup (n.*1218+120_*1218+126dup) c.880+120_880+126dup (n.880+120_880+126dup) c.*1068+120_*1068+126dup (n.*1068+120_*1068+126dup) c.*909+120_*909+126dup (n.*909+120_*909+126dup) c.*569+120_*569+126dup (n.*569+120_*569+126dup) c.1156+120_1156+126dup (n.1156+120_1156+126dup) c.*597+120_*597+126dup (n.*597+120_*597+126dup) n.1527+120_1527+126dup n.2840+120_2840+126dup n.340+120_340+126dup n.2128+120_2128+126dup n.1264+120_1264+126dup c.1018+120_1018+126dup (n.1018+120_1018+126dup) c.853+120_853+126dup (n.853+120_853+126dup) c.1221+120_1221+126dup (n.1221+120_1221+126dup) c.1209+120_1209+126dup (n.1209+120_1209+126dup) n.494+120_494+126dup c.956-5064_956-5058dup (n.956-5064_956-5058dup) | dbSNP |
14 | g.73212064T>A | CA262618848 | PSEN1 | c.1117+122T>A (n.1117+122T>A) c.1129+122T>A (n.1129+122T>A) n.1879+122T>A c.*84+122T>A (n.*84+122T>A) n.1555+122T>A c.1009+122T>A (n.1009+122T>A) c.*1073+122T>A (n.*1073+122T>A) n.6679+122T>A c.*1341+122T>A (n.*1341+122T>A) c.944-5062T>A (n.944-5062T>A) c.1172+79T>A (n.1172+79T>A) c.*791+122T>A (n.*791+122T>A) c.*687+122T>A (n.*687+122T>A) c.1030+122T>A (n.1030+122T>A) c.*1218+122T>A (n.*1218+122T>A) c.880+122T>A (n.880+122T>A) c.*1068+122T>A (n.*1068+122T>A) c.*909+122T>A (n.*909+122T>A) c.*569+122T>A (n.*569+122T>A) c.1156+122T>A (n.1156+122T>A) c.*597+122T>A (n.*597+122T>A) n.1527+122T>A n.2840+122T>A n.340+122T>A n.2128+122T>A n.1264+122T>A c.1018+122T>A (n.1018+122T>A) c.853+122T>A (n.853+122T>A) c.1221+122T>A (n.1221+122T>A) c.1209+122T>A (n.1209+122T>A) n.494+122T>A c.956-5062T>A (n.956-5062T>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212064T>C | CA2625561217 | PSEN1 | c.1117+122T>C (n.1117+122T>C) c.1129+122T>C (n.1129+122T>C) n.1879+122T>C c.*84+122T>C (n.*84+122T>C) n.1555+122T>C c.1009+122T>C (n.1009+122T>C) c.*1073+122T>C (n.*1073+122T>C) n.6679+122T>C c.*1341+122T>C (n.*1341+122T>C) c.944-5062T>C (n.944-5062T>C) c.1172+79T>C (n.1172+79T>C) c.*791+122T>C (n.*791+122T>C) c.*687+122T>C (n.*687+122T>C) c.1030+122T>C (n.1030+122T>C) c.*1218+122T>C (n.*1218+122T>C) c.880+122T>C (n.880+122T>C) c.*1068+122T>C (n.*1068+122T>C) c.*909+122T>C (n.*909+122T>C) c.*569+122T>C (n.*569+122T>C) c.1156+122T>C (n.1156+122T>C) c.*597+122T>C (n.*597+122T>C) n.1527+122T>C n.2840+122T>C n.340+122T>C n.2128+122T>C n.1264+122T>C c.1018+122T>C (n.1018+122T>C) c.853+122T>C (n.853+122T>C) c.1221+122T>C (n.1221+122T>C) c.1209+122T>C (n.1209+122T>C) n.494+122T>C c.956-5062T>C (n.956-5062T>C) | gnomAD v4 |
14 | g.73212064T= | CA2146495476 | PSEN1 | c.1117+122T= (n.1117+122T=) c.1129+122T= (n.1129+122T=) n.1879+122T= c.*84+122T= (n.*84+122T=) n.1555+122T= c.1009+122T= (n.1009+122T=) c.*1073+122T= (n.*1073+122T=) n.6679+122T= c.*1341+122T= (n.*1341+122T=) c.944-5062T= (n.944-5062T=) c.1172+79T= (n.1172+79T=) c.*791+122T= (n.*791+122T=) c.*687+122T= (n.*687+122T=) c.1030+122T= (n.1030+122T=) c.*1218+122T= (n.*1218+122T=) c.880+122T= (n.880+122T=) c.*1068+122T= (n.*1068+122T=) c.*909+122T= (n.*909+122T=) c.*569+122T= (n.*569+122T=) c.1156+122T= (n.1156+122T=) c.*597+122T= (n.*597+122T=) n.1527+122T= n.2840+122T= n.340+122T= n.2128+122T= n.1264+122T= c.1018+122T= (n.1018+122T=) c.853+122T= (n.853+122T=) c.1221+122T= (n.1221+122T=) c.1209+122T= (n.1209+122T=) n.494+122T= c.956-5062T= (n.956-5062T=) | |
14 | g.73212065A= | CA2146495478 | PSEN1 | c.1117+123A= (n.1117+123A=) c.1129+123A= (n.1129+123A=) n.1879+123A= c.*84+123A= (n.*84+123A=) n.1555+123A= c.1009+123A= (n.1009+123A=) c.*1073+123A= (n.*1073+123A=) n.6679+123A= c.*1341+123A= (n.*1341+123A=) c.944-5061A= (n.944-5061A=) c.1172+80A= (n.1172+80A=) c.*791+123A= (n.*791+123A=) c.*687+123A= (n.*687+123A=) c.1030+123A= (n.1030+123A=) c.*1218+123A= (n.*1218+123A=) c.880+123A= (n.880+123A=) c.*1068+123A= (n.*1068+123A=) c.*909+123A= (n.*909+123A=) c.*569+123A= (n.*569+123A=) c.1156+123A= (n.1156+123A=) c.*597+123A= (n.*597+123A=) n.1527+123A= n.2840+123A= n.340+123A= n.2128+123A= n.1264+123A= c.1018+123A= (n.1018+123A=) c.853+123A= (n.853+123A=) c.1221+123A= (n.1221+123A=) c.1209+123A= (n.1209+123A=) n.494+123A= c.956-5061A= (n.956-5061A=) | |
14 | g.73212065A>C | CA2802117422 | PSEN1 | c.1117+123A>C (n.1117+123A>C) c.1129+123A>C (n.1129+123A>C) n.1879+123A>C c.*84+123A>C (n.*84+123A>C) n.1555+123A>C c.1009+123A>C (n.1009+123A>C) c.*1073+123A>C (n.*1073+123A>C) n.6679+123A>C c.*1341+123A>C (n.*1341+123A>C) c.944-5061A>C (n.944-5061A>C) c.1172+80A>C (n.1172+80A>C) c.*791+123A>C (n.*791+123A>C) c.*687+123A>C (n.*687+123A>C) c.1030+123A>C (n.1030+123A>C) c.*1218+123A>C (n.*1218+123A>C) c.880+123A>C (n.880+123A>C) c.*1068+123A>C (n.*1068+123A>C) c.*909+123A>C (n.*909+123A>C) c.*569+123A>C (n.*569+123A>C) c.1156+123A>C (n.1156+123A>C) c.*597+123A>C (n.*597+123A>C) n.1527+123A>C n.2840+123A>C n.340+123A>C n.2128+123A>C n.1264+123A>C c.1018+123A>C (n.1018+123A>C) c.853+123A>C (n.853+123A>C) c.1221+123A>C (n.1221+123A>C) c.1209+123A>C (n.1209+123A>C) n.494+123A>C c.956-5061A>C (n.956-5061A>C) | |
14 | g.73212065A>G | CA2595750811 | PSEN1 | c.1117+123A>G (n.1117+123A>G) c.1129+123A>G (n.1129+123A>G) n.1879+123A>G c.*84+123A>G (n.*84+123A>G) n.1555+123A>G c.1009+123A>G (n.1009+123A>G) c.*1073+123A>G (n.*1073+123A>G) n.6679+123A>G c.*1341+123A>G (n.*1341+123A>G) c.944-5061A>G (n.944-5061A>G) c.1172+80A>G (n.1172+80A>G) c.*791+123A>G (n.*791+123A>G) c.*687+123A>G (n.*687+123A>G) c.1030+123A>G (n.1030+123A>G) c.*1218+123A>G (n.*1218+123A>G) c.880+123A>G (n.880+123A>G) c.*1068+123A>G (n.*1068+123A>G) c.*909+123A>G (n.*909+123A>G) c.*569+123A>G (n.*569+123A>G) c.1156+123A>G (n.1156+123A>G) c.*597+123A>G (n.*597+123A>G) n.1527+123A>G n.2840+123A>G n.340+123A>G n.2128+123A>G n.1264+123A>G c.1018+123A>G (n.1018+123A>G) c.853+123A>G (n.853+123A>G) c.1221+123A>G (n.1221+123A>G) c.1209+123A>G (n.1209+123A>G) n.494+123A>G c.956-5061A>G (n.956-5061A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212065A>T | CA708388895 | PSEN1 | c.1117+123A>T (n.1117+123A>T) c.1129+123A>T (n.1129+123A>T) n.1879+123A>T c.*84+123A>T (n.*84+123A>T) n.1555+123A>T c.1009+123A>T (n.1009+123A>T) c.*1073+123A>T (n.*1073+123A>T) n.6679+123A>T c.*1341+123A>T (n.*1341+123A>T) c.944-5061A>T (n.944-5061A>T) c.1172+80A>T (n.1172+80A>T) c.*791+123A>T (n.*791+123A>T) c.*687+123A>T (n.*687+123A>T) c.1030+123A>T (n.1030+123A>T) c.*1218+123A>T (n.*1218+123A>T) c.880+123A>T (n.880+123A>T) c.*1068+123A>T (n.*1068+123A>T) c.*909+123A>T (n.*909+123A>T) c.*569+123A>T (n.*569+123A>T) c.1156+123A>T (n.1156+123A>T) c.*597+123A>T (n.*597+123A>T) n.1527+123A>T n.2840+123A>T n.340+123A>T n.2128+123A>T n.1264+123A>T c.1018+123A>T (n.1018+123A>T) c.853+123A>T (n.853+123A>T) c.1221+123A>T (n.1221+123A>T) c.1209+123A>T (n.1209+123A>T) n.494+123A>T c.956-5061A>T (n.956-5061A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212067_73212072dup | CA2146495477 | PSEN1 | c.1117+125_1117+130dup (n.1117+125_1117+130dup) c.1129+125_1129+130dup (n.1129+125_1129+130dup) n.1879+125_1879+130dup c.*84+125_*84+130dup (n.*84+125_*84+130dup) n.1555+125_1555+130dup c.1009+125_1009+130dup (n.1009+125_1009+130dup) c.*1073+125_*1073+130dup (n.*1073+125_*1073+130dup) n.6679+125_6679+130dup c.*1341+125_*1341+130dup (n.*1341+125_*1341+130dup) c.944-5059_944-5054dup (n.944-5059_944-5054dup) c.1172+82_1172+87dup (n.1172+82_1172+87dup) c.*791+125_*791+130dup (n.*791+125_*791+130dup) c.*687+125_*687+130dup (n.*687+125_*687+130dup) c.1030+125_1030+130dup (n.1030+125_1030+130dup) c.*1218+125_*1218+130dup (n.*1218+125_*1218+130dup) c.880+125_880+130dup (n.880+125_880+130dup) c.*1068+125_*1068+130dup (n.*1068+125_*1068+130dup) c.*909+125_*909+130dup (n.*909+125_*909+130dup) c.*569+125_*569+130dup (n.*569+125_*569+130dup) c.1156+125_1156+130dup (n.1156+125_1156+130dup) c.*597+125_*597+130dup (n.*597+125_*597+130dup) n.1527+125_1527+130dup n.2840+125_2840+130dup n.340+125_340+130dup n.2128+125_2128+130dup n.1264+125_1264+130dup c.1018+125_1018+130dup (n.1018+125_1018+130dup) c.853+125_853+130dup (n.853+125_853+130dup) c.1221+125_1221+130dup (n.1221+125_1221+130dup) c.1209+125_1209+130dup (n.1209+125_1209+130dup) n.494+125_494+130dup c.956-5059_956-5054dup (n.956-5059_956-5054dup) | dbSNP |
14 | g.73212067T>A | CA2625561220 | PSEN1 | c.1117+125T>A (n.1117+125T>A) c.1129+125T>A (n.1129+125T>A) n.1879+125T>A c.*84+125T>A (n.*84+125T>A) n.1555+125T>A c.1009+125T>A (n.1009+125T>A) c.*1073+125T>A (n.*1073+125T>A) n.6679+125T>A c.*1341+125T>A (n.*1341+125T>A) c.944-5059T>A (n.944-5059T>A) c.1172+82T>A (n.1172+82T>A) c.*791+125T>A (n.*791+125T>A) c.*687+125T>A (n.*687+125T>A) c.1030+125T>A (n.1030+125T>A) c.*1218+125T>A (n.*1218+125T>A) c.880+125T>A (n.880+125T>A) c.*1068+125T>A (n.*1068+125T>A) c.*909+125T>A (n.*909+125T>A) c.*569+125T>A (n.*569+125T>A) c.1156+125T>A (n.1156+125T>A) c.*597+125T>A (n.*597+125T>A) n.1527+125T>A n.2840+125T>A n.340+125T>A n.2128+125T>A n.1264+125T>A c.1018+125T>A (n.1018+125T>A) c.853+125T>A (n.853+125T>A) c.1221+125T>A (n.1221+125T>A) c.1209+125T>A (n.1209+125T>A) n.494+125T>A c.956-5059T>A (n.956-5059T>A) | gnomAD v4 |
14 | g.73212067T>G | CA708388896 | PSEN1 | c.1117+125T>G (n.1117+125T>G) c.1129+125T>G (n.1129+125T>G) n.1879+125T>G c.*84+125T>G (n.*84+125T>G) n.1555+125T>G c.1009+125T>G (n.1009+125T>G) c.*1073+125T>G (n.*1073+125T>G) n.6679+125T>G c.*1341+125T>G (n.*1341+125T>G) c.944-5059T>G (n.944-5059T>G) c.1172+82T>G (n.1172+82T>G) c.*791+125T>G (n.*791+125T>G) c.*687+125T>G (n.*687+125T>G) c.1030+125T>G (n.1030+125T>G) c.*1218+125T>G (n.*1218+125T>G) c.880+125T>G (n.880+125T>G) c.*1068+125T>G (n.*1068+125T>G) c.*909+125T>G (n.*909+125T>G) c.*569+125T>G (n.*569+125T>G) c.1156+125T>G (n.1156+125T>G) c.*597+125T>G (n.*597+125T>G) n.1527+125T>G n.2840+125T>G n.340+125T>G n.2128+125T>G n.1264+125T>G c.1018+125T>G (n.1018+125T>G) c.853+125T>G (n.853+125T>G) c.1221+125T>G (n.1221+125T>G) c.1209+125T>G (n.1209+125T>G) n.494+125T>G c.956-5059T>G (n.956-5059T>G) | dbSNP gnomAD v4 |
14 | g.73212067T= | CA2146495480 | PSEN1 | c.1117+125T= (n.1117+125T=) c.1129+125T= (n.1129+125T=) n.1879+125T= c.*84+125T= (n.*84+125T=) n.1555+125T= c.1009+125T= (n.1009+125T=) c.*1073+125T= (n.*1073+125T=) n.6679+125T= c.*1341+125T= (n.*1341+125T=) c.944-5059T= (n.944-5059T=) c.1172+82T= (n.1172+82T=) c.*791+125T= (n.*791+125T=) c.*687+125T= (n.*687+125T=) c.1030+125T= (n.1030+125T=) c.*1218+125T= (n.*1218+125T=) c.880+125T= (n.880+125T=) c.*1068+125T= (n.*1068+125T=) c.*909+125T= (n.*909+125T=) c.*569+125T= (n.*569+125T=) c.1156+125T= (n.1156+125T=) c.*597+125T= (n.*597+125T=) n.1527+125T= n.2840+125T= n.340+125T= n.2128+125T= n.1264+125T= c.1018+125T= (n.1018+125T=) c.853+125T= (n.853+125T=) c.1221+125T= (n.1221+125T=) c.1209+125T= (n.1209+125T=) n.494+125T= c.956-5059T= (n.956-5059T=) | |
14 | g.73212067_73212068insAGGCT | CA2802117424 | PSEN1 | c.1117+125_1117+126insAGGCT (n.1117+125_1117+126insAGGCT) c.1129+125_1129+126insAGGCT (n.1129+125_1129+126insAGGCT) n.1879+125_1879+126insAGGCT c.*84+125_*84+126insAGGCT (n.*84+125_*84+126insAGGCT) n.1555+125_1555+126insAGGCT c.1009+125_1009+126insAGGCT (n.1009+125_1009+126insAGGCT) c.*1073+125_*1073+126insAGGCT (n.*1073+125_*1073+126insAGGCT) n.6679+125_6679+126insAGGCT c.*1341+125_*1341+126insAGGCT (n.*1341+125_*1341+126insAGGCT) c.944-5059_944-5058insAGGCT (n.944-5059_944-5058insAGGCT) c.1172+82_1172+83insAGGCT (n.1172+82_1172+83insAGGCT) c.*791+125_*791+126insAGGCT (n.*791+125_*791+126insAGGCT) c.*687+125_*687+126insAGGCT (n.*687+125_*687+126insAGGCT) c.1030+125_1030+126insAGGCT (n.1030+125_1030+126insAGGCT) c.*1218+125_*1218+126insAGGCT (n.*1218+125_*1218+126insAGGCT) c.880+125_880+126insAGGCT (n.880+125_880+126insAGGCT) c.*1068+125_*1068+126insAGGCT (n.*1068+125_*1068+126insAGGCT) c.*909+125_*909+126insAGGCT (n.*909+125_*909+126insAGGCT) c.*569+125_*569+126insAGGCT (n.*569+125_*569+126insAGGCT) c.1156+125_1156+126insAGGCT (n.1156+125_1156+126insAGGCT) c.*597+125_*597+126insAGGCT (n.*597+125_*597+126insAGGCT) n.1527+125_1527+126insAGGCT n.2840+125_2840+126insAGGCT n.340+125_340+126insAGGCT n.2128+125_2128+126insAGGCT n.1264+125_1264+126insAGGCT c.1018+125_1018+126insAGGCT (n.1018+125_1018+126insAGGCT) c.853+125_853+126insAGGCT (n.853+125_853+126insAGGCT) c.1221+125_1221+126insAGGCT (n.1221+125_1221+126insAGGCT) c.1209+125_1209+126insAGGCT (n.1209+125_1209+126insAGGCT) n.494+125_494+126insAGGCT c.956-5059_956-5058insAGGCT (n.956-5059_956-5058insAGGCT) | |
14 | g.73212068_73212071delinsTGGA | CA2146495481 | PSEN1 | c.1117+126_1117+129delinsTGGA (n.1117+126_1117+129delinsTGGA) c.1129+126_1129+129delinsTGGA (n.1129+126_1129+129delinsTGGA) n.1879+126_1879+129delinsTGGA c.*84+126_*84+129delinsTGGA (n.*84+126_*84+129delinsTGGA) n.1555+126_1555+129delinsTGGA c.1009+126_1009+129delinsTGGA (n.1009+126_1009+129delinsTGGA) c.*1073+126_*1073+129delinsTGGA (n.*1073+126_*1073+129delinsTGGA) n.6679+126_6679+129delinsTGGA c.*1341+126_*1341+129delinsTGGA (n.*1341+126_*1341+129delinsTGGA) c.944-5058_944-5055delinsTGGA (n.944-5058_944-5055delinsTGGA) c.1172+83_1172+86delinsTGGA (n.1172+83_1172+86delinsTGGA) c.*791+126_*791+129delinsTGGA (n.*791+126_*791+129delinsTGGA) c.*687+126_*687+129delinsTGGA (n.*687+126_*687+129delinsTGGA) c.1030+126_1030+129delinsTGGA (n.1030+126_1030+129delinsTGGA) c.*1218+126_*1218+129delinsTGGA (n.*1218+126_*1218+129delinsTGGA) c.880+126_880+129delinsTGGA (n.880+126_880+129delinsTGGA) c.*1068+126_*1068+129delinsTGGA (n.*1068+126_*1068+129delinsTGGA) c.*909+126_*909+129delinsTGGA (n.*909+126_*909+129delinsTGGA) c.*569+126_*569+129delinsTGGA (n.*569+126_*569+129delinsTGGA) c.1156+126_1156+129delinsTGGA (n.1156+126_1156+129delinsTGGA) c.*597+126_*597+129delinsTGGA (n.*597+126_*597+129delinsTGGA) n.1527+126_1527+129delinsTGGA n.2840+126_2840+129delinsTGGA n.340+126_340+129delinsTGGA n.2128+126_2128+129delinsTGGA n.1264+126_1264+129delinsTGGA c.1018+126_1018+129delinsTGGA (n.1018+126_1018+129delinsTGGA) c.853+126_853+129delinsTGGA (n.853+126_853+129delinsTGGA) c.1221+126_1221+129delinsTGGA (n.1221+126_1221+129delinsTGGA) c.1209+126_1209+129delinsTGGA (n.1209+126_1209+129delinsTGGA) n.494+126_494+129delinsTGGA c.956-5058_956-5055delinsTGGA (n.956-5058_956-5055delinsTGGA) | |
14 | g.73212069G>T | CA964614450 | PSEN1 | c.1117+127G>T (n.1117+127G>T) c.1129+127G>T (n.1129+127G>T) n.1879+127G>T c.*84+127G>T (n.*84+127G>T) n.1555+127G>T c.1009+127G>T (n.1009+127G>T) c.*1073+127G>T (n.*1073+127G>T) n.6679+127G>T c.*1341+127G>T (n.*1341+127G>T) c.944-5057G>T (n.944-5057G>T) c.1172+84G>T (n.1172+84G>T) c.*791+127G>T (n.*791+127G>T) c.*687+127G>T (n.*687+127G>T) c.1030+127G>T (n.1030+127G>T) c.*1218+127G>T (n.*1218+127G>T) c.880+127G>T (n.880+127G>T) c.*1068+127G>T (n.*1068+127G>T) c.*909+127G>T (n.*909+127G>T) c.*569+127G>T (n.*569+127G>T) c.1156+127G>T (n.1156+127G>T) c.*597+127G>T (n.*597+127G>T) n.1527+127G>T n.2840+127G>T n.340+127G>T n.2128+127G>T n.1264+127G>T c.1018+127G>T (n.1018+127G>T) c.853+127G>T (n.853+127G>T) c.1221+127G>T (n.1221+127G>T) c.1209+127G>T (n.1209+127G>T) n.494+127G>T c.956-5057G>T (n.956-5057G>T) | gnomAD v3 gnomAD v4 |
14 | g.73212069_73212071del | CA2146495482 | PSEN1 | c.1117+127_1117+129del (n.1117+127_1117+129del) c.1129+127_1129+129del (n.1129+127_1129+129del) n.1879+127_1879+129del c.*84+127_*84+129del (n.*84+127_*84+129del) n.1555+127_1555+129del c.1009+127_1009+129del (n.1009+127_1009+129del) c.*1073+127_*1073+129del (n.*1073+127_*1073+129del) n.6679+127_6679+129del c.*1341+127_*1341+129del (n.*1341+127_*1341+129del) c.944-5057_944-5055del (n.944-5057_944-5055del) c.1172+84_1172+86del (n.1172+84_1172+86del) c.*791+127_*791+129del (n.*791+127_*791+129del) c.*687+127_*687+129del (n.*687+127_*687+129del) c.1030+127_1030+129del (n.1030+127_1030+129del) c.*1218+127_*1218+129del (n.*1218+127_*1218+129del) c.880+127_880+129del (n.880+127_880+129del) c.*1068+127_*1068+129del (n.*1068+127_*1068+129del) c.*909+127_*909+129del (n.*909+127_*909+129del) c.*569+127_*569+129del (n.*569+127_*569+129del) c.1156+127_1156+129del (n.1156+127_1156+129del) c.*597+127_*597+129del (n.*597+127_*597+129del) n.1527+127_1527+129del n.2840+127_2840+129del n.340+127_340+129del n.2128+127_2128+129del n.1264+127_1264+129del c.1018+127_1018+129del (n.1018+127_1018+129del) c.853+127_853+129del (n.853+127_853+129del) c.1221+127_1221+129del (n.1221+127_1221+129del) c.1209+127_1209+129del (n.1209+127_1209+129del) n.494+127_494+129del c.956-5057_956-5055del (n.956-5057_956-5055del) | dbSNP |
14 | g.73212070G>A | CA262618851 | PSEN1 | c.1117+128G>A (n.1117+128G>A) c.1129+128G>A (n.1129+128G>A) n.1879+128G>A c.*84+128G>A (n.*84+128G>A) n.1555+128G>A c.1009+128G>A (n.1009+128G>A) c.*1073+128G>A (n.*1073+128G>A) n.6679+128G>A c.*1341+128G>A (n.*1341+128G>A) c.944-5056G>A (n.944-5056G>A) c.1172+85G>A (n.1172+85G>A) c.*791+128G>A (n.*791+128G>A) c.*687+128G>A (n.*687+128G>A) c.1030+128G>A (n.1030+128G>A) c.*1218+128G>A (n.*1218+128G>A) c.880+128G>A (n.880+128G>A) c.*1068+128G>A (n.*1068+128G>A) c.*909+128G>A (n.*909+128G>A) c.*569+128G>A (n.*569+128G>A) c.1156+128G>A (n.1156+128G>A) c.*597+128G>A (n.*597+128G>A) n.1527+128G>A n.2840+128G>A n.340+128G>A n.2128+128G>A n.1264+128G>A c.1018+128G>A (n.1018+128G>A) c.853+128G>A (n.853+128G>A) c.1221+128G>A (n.1221+128G>A) c.1209+128G>A (n.1209+128G>A) n.494+128G>A c.956-5056G>A (n.956-5056G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212070G= | CA2146495485 | PSEN1 | c.1117+128G= (n.1117+128G=) c.1129+128G= (n.1129+128G=) n.1879+128G= c.*84+128G= (n.*84+128G=) n.1555+128G= c.1009+128G= (n.1009+128G=) c.*1073+128G= (n.*1073+128G=) n.6679+128G= c.*1341+128G= (n.*1341+128G=) c.944-5056G= (n.944-5056G=) c.1172+85G= (n.1172+85G=) c.*791+128G= (n.*791+128G=) c.*687+128G= (n.*687+128G=) c.1030+128G= (n.1030+128G=) c.*1218+128G= (n.*1218+128G=) c.880+128G= (n.880+128G=) c.*1068+128G= (n.*1068+128G=) c.*909+128G= (n.*909+128G=) c.*569+128G= (n.*569+128G=) c.1156+128G= (n.1156+128G=) c.*597+128G= (n.*597+128G=) n.1527+128G= n.2840+128G= n.340+128G= n.2128+128G= n.1264+128G= c.1018+128G= (n.1018+128G=) c.853+128G= (n.853+128G=) c.1221+128G= (n.1221+128G=) c.1209+128G= (n.1209+128G=) n.494+128G= c.956-5056G= (n.956-5056G=) | |
14 | g.73212070G>T | CA964614452 | PSEN1 | c.1117+128G>T (n.1117+128G>T) c.1129+128G>T (n.1129+128G>T) n.1879+128G>T c.*84+128G>T (n.*84+128G>T) n.1555+128G>T c.1009+128G>T (n.1009+128G>T) c.*1073+128G>T (n.*1073+128G>T) n.6679+128G>T c.*1341+128G>T (n.*1341+128G>T) c.944-5056G>T (n.944-5056G>T) c.1172+85G>T (n.1172+85G>T) c.*791+128G>T (n.*791+128G>T) c.*687+128G>T (n.*687+128G>T) c.1030+128G>T (n.1030+128G>T) c.*1218+128G>T (n.*1218+128G>T) c.880+128G>T (n.880+128G>T) c.*1068+128G>T (n.*1068+128G>T) c.*909+128G>T (n.*909+128G>T) c.*569+128G>T (n.*569+128G>T) c.1156+128G>T (n.1156+128G>T) c.*597+128G>T (n.*597+128G>T) n.1527+128G>T n.2840+128G>T n.340+128G>T n.2128+128G>T n.1264+128G>T c.1018+128G>T (n.1018+128G>T) c.853+128G>T (n.853+128G>T) c.1221+128G>T (n.1221+128G>T) c.1209+128G>T (n.1209+128G>T) n.494+128G>T c.956-5056G>T (n.956-5056G>T) | gnomAD v3 gnomAD v4 |
14 | g.73212070_73212071insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG | CA2802117425 | PSEN1 | c.1117+128_1117+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1117+128_1117+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1129+128_1129+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1129+128_1129+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) n.1879+128_1879+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG c.*84+128_*84+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*84+128_*84+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) n.1555+128_1555+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG c.1009+128_1009+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1009+128_1009+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*1073+128_*1073+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*1073+128_*1073+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) n.6679+128_6679+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG c.*1341+128_*1341+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*1341+128_*1341+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.944-5056_944-5055insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.944-5056_944-5055insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1172+85_1172+86insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1172+85_1172+86insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*791+128_*791+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*791+128_*791+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*687+128_*687+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*687+128_*687+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1030+128_1030+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1030+128_1030+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*1218+128_*1218+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*1218+128_*1218+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.880+128_880+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.880+128_880+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*1068+128_*1068+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*1068+128_*1068+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*909+128_*909+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*909+128_*909+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*569+128_*569+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*569+128_*569+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1156+128_1156+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1156+128_1156+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.*597+128_*597+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.*597+128_*597+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) n.1527+128_1527+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG n.2840+128_2840+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG n.340+128_340+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG n.2128+128_2128+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG n.1264+128_1264+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG c.1018+128_1018+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1018+128_1018+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.853+128_853+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.853+128_853+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1221+128_1221+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1221+128_1221+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) c.1209+128_1209+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.1209+128_1209+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) n.494+128_494+129insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG c.956-5056_956-5055insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG (n.956-5056_956-5055insTCTTCAGCCCACTGCTCTTCGTGGTCATGACAGCTGTAGTTCTAGGCATCATGTCTAG) | |
14 | g.73212071A>C | CA2802117426 | PSEN1 | c.1117+129A>C (n.1117+129A>C) c.1129+129A>C (n.1129+129A>C) n.1879+129A>C c.*84+129A>C (n.*84+129A>C) n.1555+129A>C c.1009+129A>C (n.1009+129A>C) c.*1073+129A>C (n.*1073+129A>C) n.6679+129A>C c.*1341+129A>C (n.*1341+129A>C) c.944-5055A>C (n.944-5055A>C) c.1172+86A>C (n.1172+86A>C) c.*791+129A>C (n.*791+129A>C) c.*687+129A>C (n.*687+129A>C) c.1030+129A>C (n.1030+129A>C) c.*1218+129A>C (n.*1218+129A>C) c.880+129A>C (n.880+129A>C) c.*1068+129A>C (n.*1068+129A>C) c.*909+129A>C (n.*909+129A>C) c.*569+129A>C (n.*569+129A>C) c.1156+129A>C (n.1156+129A>C) c.*597+129A>C (n.*597+129A>C) n.1527+129A>C n.2840+129A>C n.340+129A>C n.2128+129A>C n.1264+129A>C c.1018+129A>C (n.1018+129A>C) c.853+129A>C (n.853+129A>C) c.1221+129A>C (n.1221+129A>C) c.1209+129A>C (n.1209+129A>C) n.494+129A>C c.956-5055A>C (n.956-5055A>C) | |
14 | g.73212071A>T | CA2625561221 | PSEN1 | c.1117+129A>T (n.1117+129A>T) c.1129+129A>T (n.1129+129A>T) n.1879+129A>T c.*84+129A>T (n.*84+129A>T) n.1555+129A>T c.1009+129A>T (n.1009+129A>T) c.*1073+129A>T (n.*1073+129A>T) n.6679+129A>T c.*1341+129A>T (n.*1341+129A>T) c.944-5055A>T (n.944-5055A>T) c.1172+86A>T (n.1172+86A>T) c.*791+129A>T (n.*791+129A>T) c.*687+129A>T (n.*687+129A>T) c.1030+129A>T (n.1030+129A>T) c.*1218+129A>T (n.*1218+129A>T) c.880+129A>T (n.880+129A>T) c.*1068+129A>T (n.*1068+129A>T) c.*909+129A>T (n.*909+129A>T) c.*569+129A>T (n.*569+129A>T) c.1156+129A>T (n.1156+129A>T) c.*597+129A>T (n.*597+129A>T) n.1527+129A>T n.2840+129A>T n.340+129A>T n.2128+129A>T n.1264+129A>T c.1018+129A>T (n.1018+129A>T) c.853+129A>T (n.853+129A>T) c.1221+129A>T (n.1221+129A>T) c.1209+129A>T (n.1209+129A>T) n.494+129A>T c.956-5055A>T (n.956-5055A>T) | gnomAD v4 |
14 | g.73212073A>C | CA2625561222 | PSEN1 | c.1117+131A>C (n.1117+131A>C) c.1129+131A>C (n.1129+131A>C) n.1879+131A>C c.*84+131A>C (n.*84+131A>C) n.1555+131A>C c.1009+131A>C (n.1009+131A>C) c.*1073+131A>C (n.*1073+131A>C) n.6679+131A>C c.*1341+131A>C (n.*1341+131A>C) c.944-5053A>C (n.944-5053A>C) c.1172+88A>C (n.1172+88A>C) c.*791+131A>C (n.*791+131A>C) c.*687+131A>C (n.*687+131A>C) c.1030+131A>C (n.1030+131A>C) c.*1218+131A>C (n.*1218+131A>C) c.880+131A>C (n.880+131A>C) c.*1068+131A>C (n.*1068+131A>C) c.*909+131A>C (n.*909+131A>C) c.*569+131A>C (n.*569+131A>C) c.1156+131A>C (n.1156+131A>C) c.*597+131A>C (n.*597+131A>C) n.1527+131A>C n.2840+131A>C n.340+131A>C n.2128+131A>C n.1264+131A>C c.1018+131A>C (n.1018+131A>C) c.853+131A>C (n.853+131A>C) c.1221+131A>C (n.1221+131A>C) c.1209+131A>C (n.1209+131A>C) n.494+131A>C c.956-5053A>C (n.956-5053A>C) | gnomAD v4 |
14 | g.73212073A>G | CA656112198 | PSEN1 | c.1117+131A>G (n.1117+131A>G) c.1129+131A>G (n.1129+131A>G) n.1879+131A>G c.*84+131A>G (n.*84+131A>G) n.1555+131A>G c.1009+131A>G (n.1009+131A>G) c.*1073+131A>G (n.*1073+131A>G) n.6679+131A>G c.*1341+131A>G (n.*1341+131A>G) c.944-5053A>G (n.944-5053A>G) c.1172+88A>G (n.1172+88A>G) c.*791+131A>G (n.*791+131A>G) c.*687+131A>G (n.*687+131A>G) c.1030+131A>G (n.1030+131A>G) c.*1218+131A>G (n.*1218+131A>G) c.880+131A>G (n.880+131A>G) c.*1068+131A>G (n.*1068+131A>G) c.*909+131A>G (n.*909+131A>G) c.*569+131A>G (n.*569+131A>G) c.1156+131A>G (n.1156+131A>G) c.*597+131A>G (n.*597+131A>G) n.1527+131A>G n.2840+131A>G n.340+131A>G n.2128+131A>G n.1264+131A>G c.1018+131A>G (n.1018+131A>G) c.853+131A>G (n.853+131A>G) c.1221+131A>G (n.1221+131A>G) c.1209+131A>G (n.1209+131A>G) n.494+131A>G c.956-5053A>G (n.956-5053A>G) | COSMIC |
14 | g.73212073A>T | CA2625561223 | PSEN1 | c.1117+131A>T (n.1117+131A>T) c.1129+131A>T (n.1129+131A>T) n.1879+131A>T c.*84+131A>T (n.*84+131A>T) n.1555+131A>T c.1009+131A>T (n.1009+131A>T) c.*1073+131A>T (n.*1073+131A>T) n.6679+131A>T c.*1341+131A>T (n.*1341+131A>T) c.944-5053A>T (n.944-5053A>T) c.1172+88A>T (n.1172+88A>T) c.*791+131A>T (n.*791+131A>T) c.*687+131A>T (n.*687+131A>T) c.1030+131A>T (n.1030+131A>T) c.*1218+131A>T (n.*1218+131A>T) c.880+131A>T (n.880+131A>T) c.*1068+131A>T (n.*1068+131A>T) c.*909+131A>T (n.*909+131A>T) c.*569+131A>T (n.*569+131A>T) c.1156+131A>T (n.1156+131A>T) c.*597+131A>T (n.*597+131A>T) n.1527+131A>T n.2840+131A>T n.340+131A>T n.2128+131A>T n.1264+131A>T c.1018+131A>T (n.1018+131A>T) c.853+131A>T (n.853+131A>T) c.1221+131A>T (n.1221+131A>T) c.1209+131A>T (n.1209+131A>T) n.494+131A>T c.956-5053A>T (n.956-5053A>T) | gnomAD v4 |
14 | g.73212074T>C | CA2625561225 | PSEN1 | c.1117+132T>C (n.1117+132T>C) c.1129+132T>C (n.1129+132T>C) n.1879+132T>C c.*84+132T>C (n.*84+132T>C) n.1555+132T>C c.1009+132T>C (n.1009+132T>C) c.*1073+132T>C (n.*1073+132T>C) n.6679+132T>C c.*1341+132T>C (n.*1341+132T>C) c.944-5052T>C (n.944-5052T>C) c.1172+89T>C (n.1172+89T>C) c.*791+132T>C (n.*791+132T>C) c.*687+132T>C (n.*687+132T>C) c.1030+132T>C (n.1030+132T>C) c.*1218+132T>C (n.*1218+132T>C) c.880+132T>C (n.880+132T>C) c.*1068+132T>C (n.*1068+132T>C) c.*909+132T>C (n.*909+132T>C) c.*569+132T>C (n.*569+132T>C) c.1156+132T>C (n.1156+132T>C) c.*597+132T>C (n.*597+132T>C) n.1527+132T>C n.2840+132T>C n.340+132T>C n.2128+132T>C n.1264+132T>C c.1018+132T>C (n.1018+132T>C) c.853+132T>C (n.853+132T>C) c.1221+132T>C (n.1221+132T>C) c.1209+132T>C (n.1209+132T>C) n.494+132T>C c.956-5052T>C (n.956-5052T>C) | gnomAD v4 |
14 | g.73212075A>C | CA2625561227 | PSEN1 | c.1117+133A>C (n.1117+133A>C) c.1129+133A>C (n.1129+133A>C) n.1879+133A>C c.*84+133A>C (n.*84+133A>C) n.1555+133A>C c.1009+133A>C (n.1009+133A>C) c.*1073+133A>C (n.*1073+133A>C) n.6679+133A>C c.*1341+133A>C (n.*1341+133A>C) c.944-5051A>C (n.944-5051A>C) c.1172+90A>C (n.1172+90A>C) c.*791+133A>C (n.*791+133A>C) c.*687+133A>C (n.*687+133A>C) c.1030+133A>C (n.1030+133A>C) c.*1218+133A>C (n.*1218+133A>C) c.880+133A>C (n.880+133A>C) c.*1068+133A>C (n.*1068+133A>C) c.*909+133A>C (n.*909+133A>C) c.*569+133A>C (n.*569+133A>C) c.1156+133A>C (n.1156+133A>C) c.*597+133A>C (n.*597+133A>C) n.1527+133A>C n.2840+133A>C n.340+133A>C n.2128+133A>C n.1264+133A>C c.1018+133A>C (n.1018+133A>C) c.853+133A>C (n.853+133A>C) c.1221+133A>C (n.1221+133A>C) c.1209+133A>C (n.1209+133A>C) n.494+133A>C c.956-5051A>C (n.956-5051A>C) | gnomAD v4 |
14 | g.73212075A>T | CA964614454 | PSEN1 | c.1117+133A>T (n.1117+133A>T) c.1129+133A>T (n.1129+133A>T) n.1879+133A>T c.*84+133A>T (n.*84+133A>T) n.1555+133A>T c.1009+133A>T (n.1009+133A>T) c.*1073+133A>T (n.*1073+133A>T) n.6679+133A>T c.*1341+133A>T (n.*1341+133A>T) c.944-5051A>T (n.944-5051A>T) c.1172+90A>T (n.1172+90A>T) c.*791+133A>T (n.*791+133A>T) c.*687+133A>T (n.*687+133A>T) c.1030+133A>T (n.1030+133A>T) c.*1218+133A>T (n.*1218+133A>T) c.880+133A>T (n.880+133A>T) c.*1068+133A>T (n.*1068+133A>T) c.*909+133A>T (n.*909+133A>T) c.*569+133A>T (n.*569+133A>T) c.1156+133A>T (n.1156+133A>T) c.*597+133A>T (n.*597+133A>T) n.1527+133A>T n.2840+133A>T n.340+133A>T n.2128+133A>T n.1264+133A>T c.1018+133A>T (n.1018+133A>T) c.853+133A>T (n.853+133A>T) c.1221+133A>T (n.1221+133A>T) c.1209+133A>T (n.1209+133A>T) n.494+133A>T c.956-5051A>T (n.956-5051A>T) | gnomAD v3 gnomAD v4 |
14 | g.73212076_73212078del | CA2625561226 | PSEN1 | c.1117+134_1117+136del (n.1117+134_1117+136del) c.1129+134_1129+136del (n.1129+134_1129+136del) n.1879+134_1879+136del c.*84+134_*84+136del (n.*84+134_*84+136del) n.1555+134_1555+136del c.1009+134_1009+136del (n.1009+134_1009+136del) c.*1073+134_*1073+136del (n.*1073+134_*1073+136del) n.6679+134_6679+136del c.*1341+134_*1341+136del (n.*1341+134_*1341+136del) c.944-5050_944-5048del (n.944-5050_944-5048del) c.1172+91_1172+93del (n.1172+91_1172+93del) c.*791+134_*791+136del (n.*791+134_*791+136del) c.*687+134_*687+136del (n.*687+134_*687+136del) c.1030+134_1030+136del (n.1030+134_1030+136del) c.*1218+134_*1218+136del (n.*1218+134_*1218+136del) c.880+134_880+136del (n.880+134_880+136del) c.*1068+134_*1068+136del (n.*1068+134_*1068+136del) c.*909+134_*909+136del (n.*909+134_*909+136del) c.*569+134_*569+136del (n.*569+134_*569+136del) c.1156+134_1156+136del (n.1156+134_1156+136del) c.*597+134_*597+136del (n.*597+134_*597+136del) n.1527+134_1527+136del n.2840+134_2840+136del n.340+134_340+136del n.2128+134_2128+136del n.1264+134_1264+136del c.1018+134_1018+136del (n.1018+134_1018+136del) c.853+134_853+136del (n.853+134_853+136del) c.1221+134_1221+136del (n.1221+134_1221+136del) c.1209+134_1209+136del (n.1209+134_1209+136del) n.494+134_494+136del c.956-5050_956-5048del (n.956-5050_956-5048del) | gnomAD v4 |
14 | g.73212077C>A | CA964614456 | PSEN1 | c.1117+135C>A (n.1117+135C>A) c.1129+135C>A (n.1129+135C>A) n.1879+135C>A c.*84+135C>A (n.*84+135C>A) n.1555+135C>A c.1009+135C>A (n.1009+135C>A) c.*1073+135C>A (n.*1073+135C>A) n.6679+135C>A c.*1341+135C>A (n.*1341+135C>A) c.944-5049C>A (n.944-5049C>A) c.1172+92C>A (n.1172+92C>A) c.*791+135C>A (n.*791+135C>A) c.*687+135C>A (n.*687+135C>A) c.1030+135C>A (n.1030+135C>A) c.*1218+135C>A (n.*1218+135C>A) c.880+135C>A (n.880+135C>A) c.*1068+135C>A (n.*1068+135C>A) c.*909+135C>A (n.*909+135C>A) c.*569+135C>A (n.*569+135C>A) c.1156+135C>A (n.1156+135C>A) c.*597+135C>A (n.*597+135C>A) n.1527+135C>A n.2840+135C>A n.340+135C>A n.2128+135C>A n.1264+135C>A c.1018+135C>A (n.1018+135C>A) c.853+135C>A (n.853+135C>A) c.1221+135C>A (n.1221+135C>A) c.1209+135C>A (n.1209+135C>A) n.494+135C>A c.956-5049C>A (n.956-5049C>A) | gnomAD v3 gnomAD v4 |
14 | g.73212077C>T | CA2625561229 | PSEN1 | c.1117+135C>T (n.1117+135C>T) c.1129+135C>T (n.1129+135C>T) n.1879+135C>T c.*84+135C>T (n.*84+135C>T) n.1555+135C>T c.1009+135C>T (n.1009+135C>T) c.*1073+135C>T (n.*1073+135C>T) n.6679+135C>T c.*1341+135C>T (n.*1341+135C>T) c.944-5049C>T (n.944-5049C>T) c.1172+92C>T (n.1172+92C>T) c.*791+135C>T (n.*791+135C>T) c.*687+135C>T (n.*687+135C>T) c.1030+135C>T (n.1030+135C>T) c.*1218+135C>T (n.*1218+135C>T) c.880+135C>T (n.880+135C>T) c.*1068+135C>T (n.*1068+135C>T) c.*909+135C>T (n.*909+135C>T) c.*569+135C>T (n.*569+135C>T) c.1156+135C>T (n.1156+135C>T) c.*597+135C>T (n.*597+135C>T) n.1527+135C>T n.2840+135C>T n.340+135C>T n.2128+135C>T n.1264+135C>T c.1018+135C>T (n.1018+135C>T) c.853+135C>T (n.853+135C>T) c.1221+135C>T (n.1221+135C>T) c.1209+135C>T (n.1209+135C>T) n.494+135C>T c.956-5049C>T (n.956-5049C>T) | gnomAD v4 |
14 | g.73212078A= | CA2146495487 | PSEN1 | c.1117+136A= (n.1117+136A=) c.1129+136A= (n.1129+136A=) n.1879+136A= c.*84+136A= (n.*84+136A=) n.1555+136A= c.1009+136A= (n.1009+136A=) c.*1073+136A= (n.*1073+136A=) n.6679+136A= c.*1341+136A= (n.*1341+136A=) c.944-5048A= (n.944-5048A=) c.1172+93A= (n.1172+93A=) c.*791+136A= (n.*791+136A=) c.*687+136A= (n.*687+136A=) c.1030+136A= (n.1030+136A=) c.*1218+136A= (n.*1218+136A=) c.880+136A= (n.880+136A=) c.*1068+136A= (n.*1068+136A=) c.*909+136A= (n.*909+136A=) c.*569+136A= (n.*569+136A=) c.1156+136A= (n.1156+136A=) c.*597+136A= (n.*597+136A=) n.1527+136A= n.2840+136A= n.340+136A= n.2128+136A= n.1264+136A= c.1018+136A= (n.1018+136A=) c.853+136A= (n.853+136A=) c.1221+136A= (n.1221+136A=) c.1209+136A= (n.1209+136A=) n.494+136A= c.956-5048A= (n.956-5048A=) | |
14 | g.73212078A>C | CA2625561230 | PSEN1 | c.1117+136A>C (n.1117+136A>C) c.1129+136A>C (n.1129+136A>C) n.1879+136A>C c.*84+136A>C (n.*84+136A>C) n.1555+136A>C c.1009+136A>C (n.1009+136A>C) c.*1073+136A>C (n.*1073+136A>C) n.6679+136A>C c.*1341+136A>C (n.*1341+136A>C) c.944-5048A>C (n.944-5048A>C) c.1172+93A>C (n.1172+93A>C) c.*791+136A>C (n.*791+136A>C) c.*687+136A>C (n.*687+136A>C) c.1030+136A>C (n.1030+136A>C) c.*1218+136A>C (n.*1218+136A>C) c.880+136A>C (n.880+136A>C) c.*1068+136A>C (n.*1068+136A>C) c.*909+136A>C (n.*909+136A>C) c.*569+136A>C (n.*569+136A>C) c.1156+136A>C (n.1156+136A>C) c.*597+136A>C (n.*597+136A>C) n.1527+136A>C n.2840+136A>C n.340+136A>C n.2128+136A>C n.1264+136A>C c.1018+136A>C (n.1018+136A>C) c.853+136A>C (n.853+136A>C) c.1221+136A>C (n.1221+136A>C) c.1209+136A>C (n.1209+136A>C) n.494+136A>C c.956-5048A>C (n.956-5048A>C) | gnomAD v4 |
14 | g.73212078A>G | CA615000719 | PSEN1 | c.1117+136A>G (n.1117+136A>G) c.1129+136A>G (n.1129+136A>G) n.1879+136A>G c.*84+136A>G (n.*84+136A>G) n.1555+136A>G c.1009+136A>G (n.1009+136A>G) c.*1073+136A>G (n.*1073+136A>G) n.6679+136A>G c.*1341+136A>G (n.*1341+136A>G) c.944-5048A>G (n.944-5048A>G) c.1172+93A>G (n.1172+93A>G) c.*791+136A>G (n.*791+136A>G) c.*687+136A>G (n.*687+136A>G) c.1030+136A>G (n.1030+136A>G) c.*1218+136A>G (n.*1218+136A>G) c.880+136A>G (n.880+136A>G) c.*1068+136A>G (n.*1068+136A>G) c.*909+136A>G (n.*909+136A>G) c.*569+136A>G (n.*569+136A>G) c.1156+136A>G (n.1156+136A>G) c.*597+136A>G (n.*597+136A>G) n.1527+136A>G n.2840+136A>G n.340+136A>G n.2128+136A>G n.1264+136A>G c.1018+136A>G (n.1018+136A>G) c.853+136A>G (n.853+136A>G) c.1221+136A>G (n.1221+136A>G) c.1209+136A>G (n.1209+136A>G) n.494+136A>G c.956-5048A>G (n.956-5048A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212078A>T | CA2625561231 | PSEN1 | c.1117+136A>T (n.1117+136A>T) c.1129+136A>T (n.1129+136A>T) n.1879+136A>T c.*84+136A>T (n.*84+136A>T) n.1555+136A>T c.1009+136A>T (n.1009+136A>T) c.*1073+136A>T (n.*1073+136A>T) n.6679+136A>T c.*1341+136A>T (n.*1341+136A>T) c.944-5048A>T (n.944-5048A>T) c.1172+93A>T (n.1172+93A>T) c.*791+136A>T (n.*791+136A>T) c.*687+136A>T (n.*687+136A>T) c.1030+136A>T (n.1030+136A>T) c.*1218+136A>T (n.*1218+136A>T) c.880+136A>T (n.880+136A>T) c.*1068+136A>T (n.*1068+136A>T) c.*909+136A>T (n.*909+136A>T) c.*569+136A>T (n.*569+136A>T) c.1156+136A>T (n.1156+136A>T) c.*597+136A>T (n.*597+136A>T) n.1527+136A>T n.2840+136A>T n.340+136A>T n.2128+136A>T n.1264+136A>T c.1018+136A>T (n.1018+136A>T) c.853+136A>T (n.853+136A>T) c.1221+136A>T (n.1221+136A>T) c.1209+136A>T (n.1209+136A>T) n.494+136A>T c.956-5048A>T (n.956-5048A>T) | gnomAD v4 |
14 | g.73212079G>A | CA2625561232 | PSEN1 | c.1117+137G>A (n.1117+137G>A) c.1129+137G>A (n.1129+137G>A) n.1879+137G>A c.*84+137G>A (n.*84+137G>A) n.1555+137G>A c.1009+137G>A (n.1009+137G>A) c.*1073+137G>A (n.*1073+137G>A) n.6679+137G>A c.*1341+137G>A (n.*1341+137G>A) c.944-5047G>A (n.944-5047G>A) c.1172+94G>A (n.1172+94G>A) c.*791+137G>A (n.*791+137G>A) c.*687+137G>A (n.*687+137G>A) c.1030+137G>A (n.1030+137G>A) c.*1218+137G>A (n.*1218+137G>A) c.880+137G>A (n.880+137G>A) c.*1068+137G>A (n.*1068+137G>A) c.*909+137G>A (n.*909+137G>A) c.*569+137G>A (n.*569+137G>A) c.1156+137G>A (n.1156+137G>A) c.*597+137G>A (n.*597+137G>A) n.1527+137G>A n.2840+137G>A n.340+137G>A n.2128+137G>A n.1264+137G>A c.1018+137G>A (n.1018+137G>A) c.853+137G>A (n.853+137G>A) c.1221+137G>A (n.1221+137G>A) c.1209+137G>A (n.1209+137G>A) n.494+137G>A c.956-5047G>A (n.956-5047G>A) | gnomAD v4 |
14 | g.73212079G>C | CA2625561233 | PSEN1 | c.1117+137G>C (n.1117+137G>C) c.1129+137G>C (n.1129+137G>C) n.1879+137G>C c.*84+137G>C (n.*84+137G>C) n.1555+137G>C c.1009+137G>C (n.1009+137G>C) c.*1073+137G>C (n.*1073+137G>C) n.6679+137G>C c.*1341+137G>C (n.*1341+137G>C) c.944-5047G>C (n.944-5047G>C) c.1172+94G>C (n.1172+94G>C) c.*791+137G>C (n.*791+137G>C) c.*687+137G>C (n.*687+137G>C) c.1030+137G>C (n.1030+137G>C) c.*1218+137G>C (n.*1218+137G>C) c.880+137G>C (n.880+137G>C) c.*1068+137G>C (n.*1068+137G>C) c.*909+137G>C (n.*909+137G>C) c.*569+137G>C (n.*569+137G>C) c.1156+137G>C (n.1156+137G>C) c.*597+137G>C (n.*597+137G>C) n.1527+137G>C n.2840+137G>C n.340+137G>C n.2128+137G>C n.1264+137G>C c.1018+137G>C (n.1018+137G>C) c.853+137G>C (n.853+137G>C) c.1221+137G>C (n.1221+137G>C) c.1209+137G>C (n.1209+137G>C) n.494+137G>C c.956-5047G>C (n.956-5047G>C) | gnomAD v4 |
14 | g.73212079G>T | CA964614457 | PSEN1 | c.1117+137G>T (n.1117+137G>T) c.1129+137G>T (n.1129+137G>T) n.1879+137G>T c.*84+137G>T (n.*84+137G>T) n.1555+137G>T c.1009+137G>T (n.1009+137G>T) c.*1073+137G>T (n.*1073+137G>T) n.6679+137G>T c.*1341+137G>T (n.*1341+137G>T) c.944-5047G>T (n.944-5047G>T) c.1172+94G>T (n.1172+94G>T) c.*791+137G>T (n.*791+137G>T) c.*687+137G>T (n.*687+137G>T) c.1030+137G>T (n.1030+137G>T) c.*1218+137G>T (n.*1218+137G>T) c.880+137G>T (n.880+137G>T) c.*1068+137G>T (n.*1068+137G>T) c.*909+137G>T (n.*909+137G>T) c.*569+137G>T (n.*569+137G>T) c.1156+137G>T (n.1156+137G>T) c.*597+137G>T (n.*597+137G>T) n.1527+137G>T n.2840+137G>T n.340+137G>T n.2128+137G>T n.1264+137G>T c.1018+137G>T (n.1018+137G>T) c.853+137G>T (n.853+137G>T) c.1221+137G>T (n.1221+137G>T) c.1209+137G>T (n.1209+137G>T) n.494+137G>T c.956-5047G>T (n.956-5047G>T) | gnomAD v3 gnomAD v4 |
14 | g.73212080del | CA2625561234 | PSEN1 | c.1117+138del (n.1117+138del) c.1129+138del (n.1129+138del) n.1879+138del c.*84+138del (n.*84+138del) n.1555+138del c.1009+138del (n.1009+138del) c.*1073+138del (n.*1073+138del) n.6679+138del c.*1341+138del (n.*1341+138del) c.944-5046del (n.944-5046del) c.1172+95del (n.1172+95del) c.*791+138del (n.*791+138del) c.*687+138del (n.*687+138del) c.1030+138del (n.1030+138del) c.*1218+138del (n.*1218+138del) c.880+138del (n.880+138del) c.*1068+138del (n.*1068+138del) c.*909+138del (n.*909+138del) c.*569+138del (n.*569+138del) c.1156+138del (n.1156+138del) c.*597+138del (n.*597+138del) n.1527+138del n.2840+138del n.340+138del n.2128+138del n.1264+138del c.1018+138del (n.1018+138del) c.853+138del (n.853+138del) c.1221+138del (n.1221+138del) c.1209+138del (n.1209+138del) n.494+138del c.956-5046del (n.956-5046del) | gnomAD v4 |
14 | g.73212080T>A | CA2548475437 | PSEN1 | c.1117+138T>A (n.1117+138T>A) c.1129+138T>A (n.1129+138T>A) n.1879+138T>A c.*84+138T>A (n.*84+138T>A) n.1555+138T>A c.1009+138T>A (n.1009+138T>A) c.*1073+138T>A (n.*1073+138T>A) n.6679+138T>A c.*1341+138T>A (n.*1341+138T>A) c.944-5046T>A (n.944-5046T>A) c.1172+95T>A (n.1172+95T>A) c.*791+138T>A (n.*791+138T>A) c.*687+138T>A (n.*687+138T>A) c.1030+138T>A (n.1030+138T>A) c.*1218+138T>A (n.*1218+138T>A) c.880+138T>A (n.880+138T>A) c.*1068+138T>A (n.*1068+138T>A) c.*909+138T>A (n.*909+138T>A) c.*569+138T>A (n.*569+138T>A) c.1156+138T>A (n.1156+138T>A) c.*597+138T>A (n.*597+138T>A) n.1527+138T>A n.2840+138T>A n.340+138T>A n.2128+138T>A n.1264+138T>A c.1018+138T>A (n.1018+138T>A) c.853+138T>A (n.853+138T>A) c.1221+138T>A (n.1221+138T>A) c.1209+138T>A (n.1209+138T>A) n.494+138T>A c.956-5046T>A (n.956-5046T>A) | gnomAD v4 |
14 | g.73212080T>C | CA2625561235 | PSEN1 | c.1117+138T>C (n.1117+138T>C) c.1129+138T>C (n.1129+138T>C) n.1879+138T>C c.*84+138T>C (n.*84+138T>C) n.1555+138T>C c.1009+138T>C (n.1009+138T>C) c.*1073+138T>C (n.*1073+138T>C) n.6679+138T>C c.*1341+138T>C (n.*1341+138T>C) c.944-5046T>C (n.944-5046T>C) c.1172+95T>C (n.1172+95T>C) c.*791+138T>C (n.*791+138T>C) c.*687+138T>C (n.*687+138T>C) c.1030+138T>C (n.1030+138T>C) c.*1218+138T>C (n.*1218+138T>C) c.880+138T>C (n.880+138T>C) c.*1068+138T>C (n.*1068+138T>C) c.*909+138T>C (n.*909+138T>C) c.*569+138T>C (n.*569+138T>C) c.1156+138T>C (n.1156+138T>C) c.*597+138T>C (n.*597+138T>C) n.1527+138T>C n.2840+138T>C n.340+138T>C n.2128+138T>C n.1264+138T>C c.1018+138T>C (n.1018+138T>C) c.853+138T>C (n.853+138T>C) c.1221+138T>C (n.1221+138T>C) c.1209+138T>C (n.1209+138T>C) n.494+138T>C c.956-5046T>C (n.956-5046T>C) | gnomAD v4 |
14 | g.73212080T>G | CA2625561236 | PSEN1 | c.1117+138T>G (n.1117+138T>G) c.1129+138T>G (n.1129+138T>G) n.1879+138T>G c.*84+138T>G (n.*84+138T>G) n.1555+138T>G c.1009+138T>G (n.1009+138T>G) c.*1073+138T>G (n.*1073+138T>G) n.6679+138T>G c.*1341+138T>G (n.*1341+138T>G) c.944-5046T>G (n.944-5046T>G) c.1172+95T>G (n.1172+95T>G) c.*791+138T>G (n.*791+138T>G) c.*687+138T>G (n.*687+138T>G) c.1030+138T>G (n.1030+138T>G) c.*1218+138T>G (n.*1218+138T>G) c.880+138T>G (n.880+138T>G) c.*1068+138T>G (n.*1068+138T>G) c.*909+138T>G (n.*909+138T>G) c.*569+138T>G (n.*569+138T>G) c.1156+138T>G (n.1156+138T>G) c.*597+138T>G (n.*597+138T>G) n.1527+138T>G n.2840+138T>G n.340+138T>G n.2128+138T>G n.1264+138T>G c.1018+138T>G (n.1018+138T>G) c.853+138T>G (n.853+138T>G) c.1221+138T>G (n.1221+138T>G) c.1209+138T>G (n.1209+138T>G) n.494+138T>G c.956-5046T>G (n.956-5046T>G) | gnomAD v4 |
14 | g.73212081A= | CA2146495491 | PSEN1 | c.1117+139A= (n.1117+139A=) c.1129+139A= (n.1129+139A=) n.1879+139A= c.*84+139A= (n.*84+139A=) n.1555+139A= c.1009+139A= (n.1009+139A=) c.*1073+139A= (n.*1073+139A=) n.6679+139A= c.*1341+139A= (n.*1341+139A=) c.944-5045A= (n.944-5045A=) c.1172+96A= (n.1172+96A=) c.*791+139A= (n.*791+139A=) c.*687+139A= (n.*687+139A=) c.1030+139A= (n.1030+139A=) c.*1218+139A= (n.*1218+139A=) c.880+139A= (n.880+139A=) c.*1068+139A= (n.*1068+139A=) c.*909+139A= (n.*909+139A=) c.*569+139A= (n.*569+139A=) c.1156+139A= (n.1156+139A=) c.*597+139A= (n.*597+139A=) n.1527+139A= n.2840+139A= n.340+139A= n.2128+139A= n.1264+139A= c.1018+139A= (n.1018+139A=) c.853+139A= (n.853+139A=) c.1221+139A= (n.1221+139A=) c.1209+139A= (n.1209+139A=) n.494+139A= c.956-5045A= (n.956-5045A=) | |
14 | g.73212081A>G | CA262618853 | PSEN1 | c.1117+139A>G (n.1117+139A>G) c.1129+139A>G (n.1129+139A>G) n.1879+139A>G c.*84+139A>G (n.*84+139A>G) n.1555+139A>G c.1009+139A>G (n.1009+139A>G) c.*1073+139A>G (n.*1073+139A>G) n.6679+139A>G c.*1341+139A>G (n.*1341+139A>G) c.944-5045A>G (n.944-5045A>G) c.1172+96A>G (n.1172+96A>G) c.*791+139A>G (n.*791+139A>G) c.*687+139A>G (n.*687+139A>G) c.1030+139A>G (n.1030+139A>G) c.*1218+139A>G (n.*1218+139A>G) c.880+139A>G (n.880+139A>G) c.*1068+139A>G (n.*1068+139A>G) c.*909+139A>G (n.*909+139A>G) c.*569+139A>G (n.*569+139A>G) c.1156+139A>G (n.1156+139A>G) c.*597+139A>G (n.*597+139A>G) n.1527+139A>G n.2840+139A>G n.340+139A>G n.2128+139A>G n.1264+139A>G c.1018+139A>G (n.1018+139A>G) c.853+139A>G (n.853+139A>G) c.1221+139A>G (n.1221+139A>G) c.1209+139A>G (n.1209+139A>G) n.494+139A>G c.956-5045A>G (n.956-5045A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212081A>T | CA708388899 | PSEN1 | c.1117+139A>T (n.1117+139A>T) c.1129+139A>T (n.1129+139A>T) n.1879+139A>T c.*84+139A>T (n.*84+139A>T) n.1555+139A>T c.1009+139A>T (n.1009+139A>T) c.*1073+139A>T (n.*1073+139A>T) n.6679+139A>T c.*1341+139A>T (n.*1341+139A>T) c.944-5045A>T (n.944-5045A>T) c.1172+96A>T (n.1172+96A>T) c.*791+139A>T (n.*791+139A>T) c.*687+139A>T (n.*687+139A>T) c.1030+139A>T (n.1030+139A>T) c.*1218+139A>T (n.*1218+139A>T) c.880+139A>T (n.880+139A>T) c.*1068+139A>T (n.*1068+139A>T) c.*909+139A>T (n.*909+139A>T) c.*569+139A>T (n.*569+139A>T) c.1156+139A>T (n.1156+139A>T) c.*597+139A>T (n.*597+139A>T) n.1527+139A>T n.2840+139A>T n.340+139A>T n.2128+139A>T n.1264+139A>T c.1018+139A>T (n.1018+139A>T) c.853+139A>T (n.853+139A>T) c.1221+139A>T (n.1221+139A>T) c.1209+139A>T (n.1209+139A>T) n.494+139A>T c.956-5045A>T (n.956-5045A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212082A>C | CA2625561237 | PSEN1 | c.1117+140A>C (n.1117+140A>C) c.1129+140A>C (n.1129+140A>C) n.1879+140A>C c.*84+140A>C (n.*84+140A>C) n.1555+140A>C c.1009+140A>C (n.1009+140A>C) c.*1073+140A>C (n.*1073+140A>C) n.6679+140A>C c.*1341+140A>C (n.*1341+140A>C) c.944-5044A>C (n.944-5044A>C) c.1172+97A>C (n.1172+97A>C) c.*791+140A>C (n.*791+140A>C) c.*687+140A>C (n.*687+140A>C) c.1030+140A>C (n.1030+140A>C) c.*1218+140A>C (n.*1218+140A>C) c.880+140A>C (n.880+140A>C) c.*1068+140A>C (n.*1068+140A>C) c.*909+140A>C (n.*909+140A>C) c.*569+140A>C (n.*569+140A>C) c.1156+140A>C (n.1156+140A>C) c.*597+140A>C (n.*597+140A>C) n.1527+140A>C n.2840+140A>C n.340+140A>C n.2128+140A>C n.1264+140A>C c.1018+140A>C (n.1018+140A>C) c.853+140A>C (n.853+140A>C) c.1221+140A>C (n.1221+140A>C) c.1209+140A>C (n.1209+140A>C) n.494+140A>C c.956-5044A>C (n.956-5044A>C) | gnomAD v4 |
14 | g.73212082A>T | CA2625561238 | PSEN1 | c.1117+140A>T (n.1117+140A>T) c.1129+140A>T (n.1129+140A>T) n.1879+140A>T c.*84+140A>T (n.*84+140A>T) n.1555+140A>T c.1009+140A>T (n.1009+140A>T) c.*1073+140A>T (n.*1073+140A>T) n.6679+140A>T c.*1341+140A>T (n.*1341+140A>T) c.944-5044A>T (n.944-5044A>T) c.1172+97A>T (n.1172+97A>T) c.*791+140A>T (n.*791+140A>T) c.*687+140A>T (n.*687+140A>T) c.1030+140A>T (n.1030+140A>T) c.*1218+140A>T (n.*1218+140A>T) c.880+140A>T (n.880+140A>T) c.*1068+140A>T (n.*1068+140A>T) c.*909+140A>T (n.*909+140A>T) c.*569+140A>T (n.*569+140A>T) c.1156+140A>T (n.1156+140A>T) c.*597+140A>T (n.*597+140A>T) n.1527+140A>T n.2840+140A>T n.340+140A>T n.2128+140A>T n.1264+140A>T c.1018+140A>T (n.1018+140A>T) c.853+140A>T (n.853+140A>T) c.1221+140A>T (n.1221+140A>T) c.1209+140A>T (n.1209+140A>T) n.494+140A>T c.956-5044A>T (n.956-5044A>T) | gnomAD v4 |
14 | g.73212083T>A | CA2625561239 | PSEN1 | c.1117+141T>A (n.1117+141T>A) c.1129+141T>A (n.1129+141T>A) n.1879+141T>A c.*84+141T>A (n.*84+141T>A) n.1555+141T>A c.1009+141T>A (n.1009+141T>A) c.*1073+141T>A (n.*1073+141T>A) n.6679+141T>A c.*1341+141T>A (n.*1341+141T>A) c.944-5043T>A (n.944-5043T>A) c.1172+98T>A (n.1172+98T>A) c.*791+141T>A (n.*791+141T>A) c.*687+141T>A (n.*687+141T>A) c.1030+141T>A (n.1030+141T>A) c.*1218+141T>A (n.*1218+141T>A) c.880+141T>A (n.880+141T>A) c.*1068+141T>A (n.*1068+141T>A) c.*909+141T>A (n.*909+141T>A) c.*569+141T>A (n.*569+141T>A) c.1156+141T>A (n.1156+141T>A) c.*597+141T>A (n.*597+141T>A) n.1527+141T>A n.2840+141T>A n.340+141T>A n.2128+141T>A n.1264+141T>A c.1018+141T>A (n.1018+141T>A) c.853+141T>A (n.853+141T>A) c.1221+141T>A (n.1221+141T>A) c.1209+141T>A (n.1209+141T>A) n.494+141T>A c.956-5043T>A (n.956-5043T>A) | gnomAD v4 |
14 | g.73212083T>C | CA615000722 | PSEN1 | c.1117+141T>C (n.1117+141T>C) c.1129+141T>C (n.1129+141T>C) n.1879+141T>C c.*84+141T>C (n.*84+141T>C) n.1555+141T>C c.1009+141T>C (n.1009+141T>C) c.*1073+141T>C (n.*1073+141T>C) n.6679+141T>C c.*1341+141T>C (n.*1341+141T>C) c.944-5043T>C (n.944-5043T>C) c.1172+98T>C (n.1172+98T>C) c.*791+141T>C (n.*791+141T>C) c.*687+141T>C (n.*687+141T>C) c.1030+141T>C (n.1030+141T>C) c.*1218+141T>C (n.*1218+141T>C) c.880+141T>C (n.880+141T>C) c.*1068+141T>C (n.*1068+141T>C) c.*909+141T>C (n.*909+141T>C) c.*569+141T>C (n.*569+141T>C) c.1156+141T>C (n.1156+141T>C) c.*597+141T>C (n.*597+141T>C) n.1527+141T>C n.2840+141T>C n.340+141T>C n.2128+141T>C n.1264+141T>C c.1018+141T>C (n.1018+141T>C) c.853+141T>C (n.853+141T>C) c.1221+141T>C (n.1221+141T>C) c.1209+141T>C (n.1209+141T>C) n.494+141T>C c.956-5043T>C (n.956-5043T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212083T>G | CA964614460 | PSEN1 | c.1117+141T>G (n.1117+141T>G) c.1129+141T>G (n.1129+141T>G) n.1879+141T>G c.*84+141T>G (n.*84+141T>G) n.1555+141T>G c.1009+141T>G (n.1009+141T>G) c.*1073+141T>G (n.*1073+141T>G) n.6679+141T>G c.*1341+141T>G (n.*1341+141T>G) c.944-5043T>G (n.944-5043T>G) c.1172+98T>G (n.1172+98T>G) c.*791+141T>G (n.*791+141T>G) c.*687+141T>G (n.*687+141T>G) c.1030+141T>G (n.1030+141T>G) c.*1218+141T>G (n.*1218+141T>G) c.880+141T>G (n.880+141T>G) c.*1068+141T>G (n.*1068+141T>G) c.*909+141T>G (n.*909+141T>G) c.*569+141T>G (n.*569+141T>G) c.1156+141T>G (n.1156+141T>G) c.*597+141T>G (n.*597+141T>G) n.1527+141T>G n.2840+141T>G n.340+141T>G n.2128+141T>G n.1264+141T>G c.1018+141T>G (n.1018+141T>G) c.853+141T>G (n.853+141T>G) c.1221+141T>G (n.1221+141T>G) c.1209+141T>G (n.1209+141T>G) n.494+141T>G c.956-5043T>G (n.956-5043T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212083T= | CA2146495493 | PSEN1 | c.1117+141T= (n.1117+141T=) c.1129+141T= (n.1129+141T=) n.1879+141T= c.*84+141T= (n.*84+141T=) n.1555+141T= c.1009+141T= (n.1009+141T=) c.*1073+141T= (n.*1073+141T=) n.6679+141T= c.*1341+141T= (n.*1341+141T=) c.944-5043T= (n.944-5043T=) c.1172+98T= (n.1172+98T=) c.*791+141T= (n.*791+141T=) c.*687+141T= (n.*687+141T=) c.1030+141T= (n.1030+141T=) c.*1218+141T= (n.*1218+141T=) c.880+141T= (n.880+141T=) c.*1068+141T= (n.*1068+141T=) c.*909+141T= (n.*909+141T=) c.*569+141T= (n.*569+141T=) c.1156+141T= (n.1156+141T=) c.*597+141T= (n.*597+141T=) n.1527+141T= n.2840+141T= n.340+141T= n.2128+141T= n.1264+141T= c.1018+141T= (n.1018+141T=) c.853+141T= (n.853+141T=) c.1221+141T= (n.1221+141T=) c.1209+141T= (n.1209+141T=) n.494+141T= c.956-5043T= (n.956-5043T=) | |
14 | g.73212083_73212084insTGAG | CA2625561241 | PSEN1 | c.1117+141_1117+142insTGAG (n.1117+141_1117+142insTGAG) c.1129+141_1129+142insTGAG (n.1129+141_1129+142insTGAG) n.1879+141_1879+142insTGAG c.*84+141_*84+142insTGAG (n.*84+141_*84+142insTGAG) n.1555+141_1555+142insTGAG c.1009+141_1009+142insTGAG (n.1009+141_1009+142insTGAG) c.*1073+141_*1073+142insTGAG (n.*1073+141_*1073+142insTGAG) n.6679+141_6679+142insTGAG c.*1341+141_*1341+142insTGAG (n.*1341+141_*1341+142insTGAG) c.944-5043_944-5042insTGAG (n.944-5043_944-5042insTGAG) c.1172+98_1172+99insTGAG (n.1172+98_1172+99insTGAG) c.*791+141_*791+142insTGAG (n.*791+141_*791+142insTGAG) c.*687+141_*687+142insTGAG (n.*687+141_*687+142insTGAG) c.1030+141_1030+142insTGAG (n.1030+141_1030+142insTGAG) c.*1218+141_*1218+142insTGAG (n.*1218+141_*1218+142insTGAG) c.880+141_880+142insTGAG (n.880+141_880+142insTGAG) c.*1068+141_*1068+142insTGAG (n.*1068+141_*1068+142insTGAG) c.*909+141_*909+142insTGAG (n.*909+141_*909+142insTGAG) c.*569+141_*569+142insTGAG (n.*569+141_*569+142insTGAG) c.1156+141_1156+142insTGAG (n.1156+141_1156+142insTGAG) c.*597+141_*597+142insTGAG (n.*597+141_*597+142insTGAG) n.1527+141_1527+142insTGAG n.2840+141_2840+142insTGAG n.340+141_340+142insTGAG n.2128+141_2128+142insTGAG n.1264+141_1264+142insTGAG c.1018+141_1018+142insTGAG (n.1018+141_1018+142insTGAG) c.853+141_853+142insTGAG (n.853+141_853+142insTGAG) c.1221+141_1221+142insTGAG (n.1221+141_1221+142insTGAG) c.1209+141_1209+142insTGAG (n.1209+141_1209+142insTGAG) n.494+141_494+142insTGAG c.956-5043_956-5042insTGAG (n.956-5043_956-5042insTGAG) | gnomAD v4 |
14 | g.73212084A>G | CA964614461 | PSEN1 | c.1117+142A>G (n.1117+142A>G) c.1129+142A>G (n.1129+142A>G) n.1879+142A>G c.*84+142A>G (n.*84+142A>G) n.1555+142A>G c.1009+142A>G (n.1009+142A>G) c.*1073+142A>G (n.*1073+142A>G) n.6679+142A>G c.*1341+142A>G (n.*1341+142A>G) c.944-5042A>G (n.944-5042A>G) c.1172+99A>G (n.1172+99A>G) c.*791+142A>G (n.*791+142A>G) c.*687+142A>G (n.*687+142A>G) c.1030+142A>G (n.1030+142A>G) c.*1218+142A>G (n.*1218+142A>G) c.880+142A>G (n.880+142A>G) c.*1068+142A>G (n.*1068+142A>G) c.*909+142A>G (n.*909+142A>G) c.*569+142A>G (n.*569+142A>G) c.1156+142A>G (n.1156+142A>G) c.*597+142A>G (n.*597+142A>G) n.1527+142A>G n.2840+142A>G n.340+142A>G n.2128+142A>G n.1264+142A>G c.1018+142A>G (n.1018+142A>G) c.853+142A>G (n.853+142A>G) c.1221+142A>G (n.1221+142A>G) c.1209+142A>G (n.1209+142A>G) n.494+142A>G c.956-5042A>G (n.956-5042A>G) | gnomAD v3 gnomAD v4 |
14 | g.73212084A>T | CA964614462 | PSEN1 | c.1117+142A>T (n.1117+142A>T) c.1129+142A>T (n.1129+142A>T) n.1879+142A>T c.*84+142A>T (n.*84+142A>T) n.1555+142A>T c.1009+142A>T (n.1009+142A>T) c.*1073+142A>T (n.*1073+142A>T) n.6679+142A>T c.*1341+142A>T (n.*1341+142A>T) c.944-5042A>T (n.944-5042A>T) c.1172+99A>T (n.1172+99A>T) c.*791+142A>T (n.*791+142A>T) c.*687+142A>T (n.*687+142A>T) c.1030+142A>T (n.1030+142A>T) c.*1218+142A>T (n.*1218+142A>T) c.880+142A>T (n.880+142A>T) c.*1068+142A>T (n.*1068+142A>T) c.*909+142A>T (n.*909+142A>T) c.*569+142A>T (n.*569+142A>T) c.1156+142A>T (n.1156+142A>T) c.*597+142A>T (n.*597+142A>T) n.1527+142A>T n.2840+142A>T n.340+142A>T n.2128+142A>T n.1264+142A>T c.1018+142A>T (n.1018+142A>T) c.853+142A>T (n.853+142A>T) c.1221+142A>T (n.1221+142A>T) c.1209+142A>T (n.1209+142A>T) n.494+142A>T c.956-5042A>T (n.956-5042A>T) | gnomAD v3 gnomAD v4 |
14 | g.73212085G>C | CA2625561243 | PSEN1 | c.1117+143G>C (n.1117+143G>C) c.1129+143G>C (n.1129+143G>C) n.1879+143G>C c.*84+143G>C (n.*84+143G>C) n.1555+143G>C c.1009+143G>C (n.1009+143G>C) c.*1073+143G>C (n.*1073+143G>C) n.6679+143G>C c.*1341+143G>C (n.*1341+143G>C) c.944-5041G>C (n.944-5041G>C) c.1172+100G>C (n.1172+100G>C) c.*791+143G>C (n.*791+143G>C) c.*687+143G>C (n.*687+143G>C) c.1030+143G>C (n.1030+143G>C) c.*1218+143G>C (n.*1218+143G>C) c.880+143G>C (n.880+143G>C) c.*1068+143G>C (n.*1068+143G>C) c.*909+143G>C (n.*909+143G>C) c.*569+143G>C (n.*569+143G>C) c.1156+143G>C (n.1156+143G>C) c.*597+143G>C (n.*597+143G>C) n.1527+143G>C n.2840+143G>C n.340+143G>C n.2128+143G>C n.1264+143G>C c.1018+143G>C (n.1018+143G>C) c.853+143G>C (n.853+143G>C) c.1221+143G>C (n.1221+143G>C) c.1209+143G>C (n.1209+143G>C) n.494+143G>C c.956-5041G>C (n.956-5041G>C) | gnomAD v4 |
14 | g.73212085G>T | CA964614463 | PSEN1 | c.1117+143G>T (n.1117+143G>T) c.1129+143G>T (n.1129+143G>T) n.1879+143G>T c.*84+143G>T (n.*84+143G>T) n.1555+143G>T c.1009+143G>T (n.1009+143G>T) c.*1073+143G>T (n.*1073+143G>T) n.6679+143G>T c.*1341+143G>T (n.*1341+143G>T) c.944-5041G>T (n.944-5041G>T) c.1172+100G>T (n.1172+100G>T) c.*791+143G>T (n.*791+143G>T) c.*687+143G>T (n.*687+143G>T) c.1030+143G>T (n.1030+143G>T) c.*1218+143G>T (n.*1218+143G>T) c.880+143G>T (n.880+143G>T) c.*1068+143G>T (n.*1068+143G>T) c.*909+143G>T (n.*909+143G>T) c.*569+143G>T (n.*569+143G>T) c.1156+143G>T (n.1156+143G>T) c.*597+143G>T (n.*597+143G>T) n.1527+143G>T n.2840+143G>T n.340+143G>T n.2128+143G>T n.1264+143G>T c.1018+143G>T (n.1018+143G>T) c.853+143G>T (n.853+143G>T) c.1221+143G>T (n.1221+143G>T) c.1209+143G>T (n.1209+143G>T) n.494+143G>T c.956-5041G>T (n.956-5041G>T) | gnomAD v3 gnomAD v4 |
14 | g.73212086T>A | CA708388904 | PSEN1 | c.1117+144T>A (n.1117+144T>A) c.1129+144T>A (n.1129+144T>A) n.1879+144T>A c.*84+144T>A (n.*84+144T>A) n.1555+144T>A c.1009+144T>A (n.1009+144T>A) c.*1073+144T>A (n.*1073+144T>A) n.6679+144T>A c.*1341+144T>A (n.*1341+144T>A) c.944-5040T>A (n.944-5040T>A) c.1172+101T>A (n.1172+101T>A) c.*791+144T>A (n.*791+144T>A) c.*687+144T>A (n.*687+144T>A) c.1030+144T>A (n.1030+144T>A) c.*1218+144T>A (n.*1218+144T>A) c.880+144T>A (n.880+144T>A) c.*1068+144T>A (n.*1068+144T>A) c.*909+144T>A (n.*909+144T>A) c.*569+144T>A (n.*569+144T>A) c.1156+144T>A (n.1156+144T>A) c.*597+144T>A (n.*597+144T>A) n.1527+144T>A n.2840+144T>A n.340+144T>A n.2128+144T>A n.1264+144T>A c.1018+144T>A (n.1018+144T>A) c.853+144T>A (n.853+144T>A) c.1221+144T>A (n.1221+144T>A) c.1209+144T>A (n.1209+144T>A) n.494+144T>A c.956-5040T>A (n.956-5040T>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212086T>C | CA2625561250 | PSEN1 | c.1117+144T>C (n.1117+144T>C) c.1129+144T>C (n.1129+144T>C) n.1879+144T>C c.*84+144T>C (n.*84+144T>C) n.1555+144T>C c.1009+144T>C (n.1009+144T>C) c.*1073+144T>C (n.*1073+144T>C) n.6679+144T>C c.*1341+144T>C (n.*1341+144T>C) c.944-5040T>C (n.944-5040T>C) c.1172+101T>C (n.1172+101T>C) c.*791+144T>C (n.*791+144T>C) c.*687+144T>C (n.*687+144T>C) c.1030+144T>C (n.1030+144T>C) c.*1218+144T>C (n.*1218+144T>C) c.880+144T>C (n.880+144T>C) c.*1068+144T>C (n.*1068+144T>C) c.*909+144T>C (n.*909+144T>C) c.*569+144T>C (n.*569+144T>C) c.1156+144T>C (n.1156+144T>C) c.*597+144T>C (n.*597+144T>C) n.1527+144T>C n.2840+144T>C n.340+144T>C n.2128+144T>C n.1264+144T>C c.1018+144T>C (n.1018+144T>C) c.853+144T>C (n.853+144T>C) c.1221+144T>C (n.1221+144T>C) c.1209+144T>C (n.1209+144T>C) n.494+144T>C c.956-5040T>C (n.956-5040T>C) | gnomAD v4 |
14 | g.73212086T>G | CA964614470 | PSEN1 | c.1117+144T>G (n.1117+144T>G) c.1129+144T>G (n.1129+144T>G) n.1879+144T>G c.*84+144T>G (n.*84+144T>G) n.1555+144T>G c.1009+144T>G (n.1009+144T>G) c.*1073+144T>G (n.*1073+144T>G) n.6679+144T>G c.*1341+144T>G (n.*1341+144T>G) c.944-5040T>G (n.944-5040T>G) c.1172+101T>G (n.1172+101T>G) c.*791+144T>G (n.*791+144T>G) c.*687+144T>G (n.*687+144T>G) c.1030+144T>G (n.1030+144T>G) c.*1218+144T>G (n.*1218+144T>G) c.880+144T>G (n.880+144T>G) c.*1068+144T>G (n.*1068+144T>G) c.*909+144T>G (n.*909+144T>G) c.*569+144T>G (n.*569+144T>G) c.1156+144T>G (n.1156+144T>G) c.*597+144T>G (n.*597+144T>G) n.1527+144T>G n.2840+144T>G n.340+144T>G n.2128+144T>G n.1264+144T>G c.1018+144T>G (n.1018+144T>G) c.853+144T>G (n.853+144T>G) c.1221+144T>G (n.1221+144T>G) c.1209+144T>G (n.1209+144T>G) n.494+144T>G c.956-5040T>G (n.956-5040T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212086T= | CA2146495495 | PSEN1 | c.1117+144T= (n.1117+144T=) c.1129+144T= (n.1129+144T=) n.1879+144T= c.*84+144T= (n.*84+144T=) n.1555+144T= c.1009+144T= (n.1009+144T=) c.*1073+144T= (n.*1073+144T=) n.6679+144T= c.*1341+144T= (n.*1341+144T=) c.944-5040T= (n.944-5040T=) c.1172+101T= (n.1172+101T=) c.*791+144T= (n.*791+144T=) c.*687+144T= (n.*687+144T=) c.1030+144T= (n.1030+144T=) c.*1218+144T= (n.*1218+144T=) c.880+144T= (n.880+144T=) c.*1068+144T= (n.*1068+144T=) c.*909+144T= (n.*909+144T=) c.*569+144T= (n.*569+144T=) c.1156+144T= (n.1156+144T=) c.*597+144T= (n.*597+144T=) n.1527+144T= n.2840+144T= n.340+144T= n.2128+144T= n.1264+144T= c.1018+144T= (n.1018+144T=) c.853+144T= (n.853+144T=) c.1221+144T= (n.1221+144T=) c.1209+144T= (n.1209+144T=) n.494+144T= c.956-5040T= (n.956-5040T=) | |
14 | g.73212087_73212092del | CA2625561265 | PSEN1 | c.1117+145_1117+150del (n.1117+145_1117+150del) c.1129+145_1129+150del (n.1129+145_1129+150del) n.1879+145_1879+150del c.*84+145_*84+150del (n.*84+145_*84+150del) n.1555+145_1555+150del c.1009+145_1009+150del (n.1009+145_1009+150del) c.*1073+145_*1073+150del (n.*1073+145_*1073+150del) n.6679+145_6679+150del c.*1341+145_*1341+150del (n.*1341+145_*1341+150del) c.944-5039_944-5034del (n.944-5039_944-5034del) c.1172+102_1172+107del (n.1172+102_1172+107del) c.*791+145_*791+150del (n.*791+145_*791+150del) c.*687+145_*687+150del (n.*687+145_*687+150del) c.1030+145_1030+150del (n.1030+145_1030+150del) c.*1218+145_*1218+150del (n.*1218+145_*1218+150del) c.880+145_880+150del (n.880+145_880+150del) c.*1068+145_*1068+150del (n.*1068+145_*1068+150del) c.*909+145_*909+150del (n.*909+145_*909+150del) c.*569+145_*569+150del (n.*569+145_*569+150del) c.1156+145_1156+150del (n.1156+145_1156+150del) c.*597+145_*597+150del (n.*597+145_*597+150del) n.1527+145_1527+150del n.2840+145_2840+150del n.340+145_340+150del n.2128+145_2128+150del n.1264+145_1264+150del c.1018+145_1018+150del (n.1018+145_1018+150del) c.853+145_853+150del (n.853+145_853+150del) c.1221+145_1221+150del (n.1221+145_1221+150del) c.1209+145_1209+150del (n.1209+145_1209+150del) n.494+145_494+150del c.956-5039_956-5034del (n.956-5039_956-5034del) | gnomAD v4 |
14 | g.73212087_73212093del | CA2625561263 | PSEN1 | c.1117+145_1117+151del (n.1117+145_1117+151del) c.1129+145_1129+151del (n.1129+145_1129+151del) n.1879+145_1879+151del c.*84+145_*84+151del (n.*84+145_*84+151del) n.1555+145_1555+151del c.1009+145_1009+151del (n.1009+145_1009+151del) c.*1073+145_*1073+151del (n.*1073+145_*1073+151del) n.6679+145_6679+151del c.*1341+145_*1341+151del (n.*1341+145_*1341+151del) c.944-5039_944-5033del (n.944-5039_944-5033del) c.1172+102_1172+108del (n.1172+102_1172+108del) c.*791+145_*791+151del (n.*791+145_*791+151del) c.*687+145_*687+151del (n.*687+145_*687+151del) c.1030+145_1030+151del (n.1030+145_1030+151del) c.*1218+145_*1218+151del (n.*1218+145_*1218+151del) c.880+145_880+151del (n.880+145_880+151del) c.*1068+145_*1068+151del (n.*1068+145_*1068+151del) c.*909+145_*909+151del (n.*909+145_*909+151del) c.*569+145_*569+151del (n.*569+145_*569+151del) c.1156+145_1156+151del (n.1156+145_1156+151del) c.*597+145_*597+151del (n.*597+145_*597+151del) n.1527+145_1527+151del n.2840+145_2840+151del n.340+145_340+151del n.2128+145_2128+151del n.1264+145_1264+151del c.1018+145_1018+151del (n.1018+145_1018+151del) c.853+145_853+151del (n.853+145_853+151del) c.1221+145_1221+151del (n.1221+145_1221+151del) c.1209+145_1209+151del (n.1209+145_1209+151del) n.494+145_494+151del c.956-5039_956-5033del (n.956-5039_956-5033del) | gnomAD v4 |
14 | g.73212087_73212094del | CA964614469 | PSEN1 | c.1117+145_1117+152del (n.1117+145_1117+152del) c.1129+145_1129+152del (n.1129+145_1129+152del) n.1879+145_1879+152del c.*84+145_*84+152del (n.*84+145_*84+152del) n.1555+145_1555+152del c.1009+145_1009+152del (n.1009+145_1009+152del) c.*1073+145_*1073+152del (n.*1073+145_*1073+152del) n.6679+145_6679+152del c.*1341+145_*1341+152del (n.*1341+145_*1341+152del) c.944-5039_944-5032del (n.944-5039_944-5032del) c.1172+102_1172+109del (n.1172+102_1172+109del) c.*791+145_*791+152del (n.*791+145_*791+152del) c.*687+145_*687+152del (n.*687+145_*687+152del) c.1030+145_1030+152del (n.1030+145_1030+152del) c.*1218+145_*1218+152del (n.*1218+145_*1218+152del) c.880+145_880+152del (n.880+145_880+152del) c.*1068+145_*1068+152del (n.*1068+145_*1068+152del) c.*909+145_*909+152del (n.*909+145_*909+152del) c.*569+145_*569+152del (n.*569+145_*569+152del) c.1156+145_1156+152del (n.1156+145_1156+152del) c.*597+145_*597+152del (n.*597+145_*597+152del) n.1527+145_1527+152del n.2840+145_2840+152del n.340+145_340+152del n.2128+145_2128+152del n.1264+145_1264+152del c.1018+145_1018+152del (n.1018+145_1018+152del) c.853+145_853+152del (n.853+145_853+152del) c.1221+145_1221+152del (n.1221+145_1221+152del) c.1209+145_1209+152del (n.1209+145_1209+152del) n.494+145_494+152del c.956-5039_956-5032del (n.956-5039_956-5032del) | gnomAD v3 gnomAD v4 |
14 | g.73212087_73212095del | CA2625561262 | PSEN1 | c.1117+145_1117+153del (n.1117+145_1117+153del) c.1129+145_1129+153del (n.1129+145_1129+153del) n.1879+145_1879+153del c.*84+145_*84+153del (n.*84+145_*84+153del) n.1555+145_1555+153del c.1009+145_1009+153del (n.1009+145_1009+153del) c.*1073+145_*1073+153del (n.*1073+145_*1073+153del) n.6679+145_6679+153del c.*1341+145_*1341+153del (n.*1341+145_*1341+153del) c.944-5039_944-5031del (n.944-5039_944-5031del) c.1172+102_1172+110del (n.1172+102_1172+110del) c.*791+145_*791+153del (n.*791+145_*791+153del) c.*687+145_*687+153del (n.*687+145_*687+153del) c.1030+145_1030+153del (n.1030+145_1030+153del) c.*1218+145_*1218+153del (n.*1218+145_*1218+153del) c.880+145_880+153del (n.880+145_880+153del) c.*1068+145_*1068+153del (n.*1068+145_*1068+153del) c.*909+145_*909+153del (n.*909+145_*909+153del) c.*569+145_*569+153del (n.*569+145_*569+153del) c.1156+145_1156+153del (n.1156+145_1156+153del) c.*597+145_*597+153del (n.*597+145_*597+153del) n.1527+145_1527+153del n.2840+145_2840+153del n.340+145_340+153del n.2128+145_2128+153del n.1264+145_1264+153del c.1018+145_1018+153del (n.1018+145_1018+153del) c.853+145_853+153del (n.853+145_853+153del) c.1221+145_1221+153del (n.1221+145_1221+153del) c.1209+145_1209+153del (n.1209+145_1209+153del) n.494+145_494+153del c.956-5039_956-5031del (n.956-5039_956-5031del) | gnomAD v4 |
14 | g.73212087_73212098del | CA2625561260 | PSEN1 | c.1117+145_1117+156del (n.1117+145_1117+156del) c.1129+145_1129+156del (n.1129+145_1129+156del) n.1879+145_1879+156del c.*84+145_*84+156del (n.*84+145_*84+156del) n.1555+145_1555+156del c.1009+145_1009+156del (n.1009+145_1009+156del) c.*1073+145_*1073+156del (n.*1073+145_*1073+156del) n.6679+145_6679+156del c.*1341+145_*1341+156del (n.*1341+145_*1341+156del) c.944-5039_944-5028del (n.944-5039_944-5028del) c.1172+102_1172+113del (n.1172+102_1172+113del) c.*791+145_*791+156del (n.*791+145_*791+156del) c.*687+145_*687+156del (n.*687+145_*687+156del) c.1030+145_1030+156del (n.1030+145_1030+156del) c.*1218+145_*1218+156del (n.*1218+145_*1218+156del) c.880+145_880+156del (n.880+145_880+156del) c.*1068+145_*1068+156del (n.*1068+145_*1068+156del) c.*909+145_*909+156del (n.*909+145_*909+156del) c.*569+145_*569+156del (n.*569+145_*569+156del) c.1156+145_1156+156del (n.1156+145_1156+156del) c.*597+145_*597+156del (n.*597+145_*597+156del) n.1527+145_1527+156del n.2840+145_2840+156del n.340+145_340+156del n.2128+145_2128+156del n.1264+145_1264+156del c.1018+145_1018+156del (n.1018+145_1018+156del) c.853+145_853+156del (n.853+145_853+156del) c.1221+145_1221+156del (n.1221+145_1221+156del) c.1209+145_1209+156del (n.1209+145_1209+156del) n.494+145_494+156del c.956-5039_956-5028del (n.956-5039_956-5028del) | gnomAD v4 |
14 | g.73212087_73212099del | CA2625561258 | PSEN1 | c.1117+145_1117+157del (n.1117+145_1117+157del) c.1129+145_1129+157del (n.1129+145_1129+157del) n.1879+145_1879+157del c.*84+145_*84+157del (n.*84+145_*84+157del) n.1555+145_1555+157del c.1009+145_1009+157del (n.1009+145_1009+157del) c.*1073+145_*1073+157del (n.*1073+145_*1073+157del) n.6679+145_6679+157del c.*1341+145_*1341+157del (n.*1341+145_*1341+157del) c.944-5039_944-5027del (n.944-5039_944-5027del) c.1172+102_1172+114del (n.1172+102_1172+114del) c.*791+145_*791+157del (n.*791+145_*791+157del) c.*687+145_*687+157del (n.*687+145_*687+157del) c.1030+145_1030+157del (n.1030+145_1030+157del) c.*1218+145_*1218+157del (n.*1218+145_*1218+157del) c.880+145_880+157del (n.880+145_880+157del) c.*1068+145_*1068+157del (n.*1068+145_*1068+157del) c.*909+145_*909+157del (n.*909+145_*909+157del) c.*569+145_*569+157del (n.*569+145_*569+157del) c.1156+145_1156+157del (n.1156+145_1156+157del) c.*597+145_*597+157del (n.*597+145_*597+157del) n.1527+145_1527+157del n.2840+145_2840+157del n.340+145_340+157del n.2128+145_2128+157del n.1264+145_1264+157del c.1018+145_1018+157del (n.1018+145_1018+157del) c.853+145_853+157del (n.853+145_853+157del) c.1221+145_1221+157del (n.1221+145_1221+157del) c.1209+145_1209+157del (n.1209+145_1209+157del) n.494+145_494+157del c.956-5039_956-5027del (n.956-5039_956-5027del) | gnomAD v4 |
14 | g.73212087_73212100del | CA2625561256 | PSEN1 | c.1117+145_1117+158del (n.1117+145_1117+158del) c.1129+145_1129+158del (n.1129+145_1129+158del) n.1879+145_1879+158del c.*84+145_*84+158del (n.*84+145_*84+158del) n.1555+145_1555+158del c.1009+145_1009+158del (n.1009+145_1009+158del) c.*1073+145_*1073+158del (n.*1073+145_*1073+158del) n.6679+145_6679+158del c.*1341+145_*1341+158del (n.*1341+145_*1341+158del) c.944-5039_944-5026del (n.944-5039_944-5026del) c.1172+102_1172+115del (n.1172+102_1172+115del) c.*791+145_*791+158del (n.*791+145_*791+158del) c.*687+145_*687+158del (n.*687+145_*687+158del) c.1030+145_1030+158del (n.1030+145_1030+158del) c.*1218+145_*1218+158del (n.*1218+145_*1218+158del) c.880+145_880+158del (n.880+145_880+158del) c.*1068+145_*1068+158del (n.*1068+145_*1068+158del) c.*909+145_*909+158del (n.*909+145_*909+158del) c.*569+145_*569+158del (n.*569+145_*569+158del) c.1156+145_1156+158del (n.1156+145_1156+158del) c.*597+145_*597+158del (n.*597+145_*597+158del) n.1527+145_1527+158del n.2840+145_2840+158del n.340+145_340+158del n.2128+145_2128+158del n.1264+145_1264+158del c.1018+145_1018+158del (n.1018+145_1018+158del) c.853+145_853+158del (n.853+145_853+158del) c.1221+145_1221+158del (n.1221+145_1221+158del) c.1209+145_1209+158del (n.1209+145_1209+158del) n.494+145_494+158del c.956-5039_956-5026del (n.956-5039_956-5026del) | gnomAD v4 |
14 | g.73212087_73212101del | CA2625561257 | PSEN1 | c.1117+145_1117+159del (n.1117+145_1117+159del) c.1129+145_1129+159del (n.1129+145_1129+159del) n.1879+145_1879+159del c.*84+145_*84+159del (n.*84+145_*84+159del) n.1555+145_1555+159del c.1009+145_1009+159del (n.1009+145_1009+159del) c.*1073+145_*1073+159del (n.*1073+145_*1073+159del) n.6679+145_6679+159del c.*1341+145_*1341+159del (n.*1341+145_*1341+159del) c.944-5039_944-5025del (n.944-5039_944-5025del) c.1172+102_1172+116del (n.1172+102_1172+116del) c.*791+145_*791+159del (n.*791+145_*791+159del) c.*687+145_*687+159del (n.*687+145_*687+159del) c.1030+145_1030+159del (n.1030+145_1030+159del) c.*1218+145_*1218+159del (n.*1218+145_*1218+159del) c.880+145_880+159del (n.880+145_880+159del) c.*1068+145_*1068+159del (n.*1068+145_*1068+159del) c.*909+145_*909+159del (n.*909+145_*909+159del) c.*569+145_*569+159del (n.*569+145_*569+159del) c.1156+145_1156+159del (n.1156+145_1156+159del) c.*597+145_*597+159del (n.*597+145_*597+159del) n.1527+145_1527+159del n.2840+145_2840+159del n.340+145_340+159del n.2128+145_2128+159del n.1264+145_1264+159del c.1018+145_1018+159del (n.1018+145_1018+159del) c.853+145_853+159del (n.853+145_853+159del) c.1221+145_1221+159del (n.1221+145_1221+159del) c.1209+145_1209+159del (n.1209+145_1209+159del) n.494+145_494+159del c.956-5039_956-5025del (n.956-5039_956-5025del) | gnomAD v4 |
14 | g.73212087_73212102del | CA964614465 | PSEN1 | c.1117+145_1117+160del (n.1117+145_1117+160del) c.1129+145_1129+160del (n.1129+145_1129+160del) n.1879+145_1879+160del c.*84+145_*84+160del (n.*84+145_*84+160del) n.1555+145_1555+160del c.1009+145_1009+160del (n.1009+145_1009+160del) c.*1073+145_*1073+160del (n.*1073+145_*1073+160del) n.6679+145_6679+160del c.*1341+145_*1341+160del (n.*1341+145_*1341+160del) c.944-5039_944-5024del (n.944-5039_944-5024del) c.1172+102_1172+117del (n.1172+102_1172+117del) c.*791+145_*791+160del (n.*791+145_*791+160del) c.*687+145_*687+160del (n.*687+145_*687+160del) c.1030+145_1030+160del (n.1030+145_1030+160del) c.*1218+145_*1218+160del (n.*1218+145_*1218+160del) c.880+145_880+160del (n.880+145_880+160del) c.*1068+145_*1068+160del (n.*1068+145_*1068+160del) c.*909+145_*909+160del (n.*909+145_*909+160del) c.*569+145_*569+160del (n.*569+145_*569+160del) c.1156+145_1156+160del (n.1156+145_1156+160del) c.*597+145_*597+160del (n.*597+145_*597+160del) n.1527+145_1527+160del n.2840+145_2840+160del n.340+145_340+160del n.2128+145_2128+160del n.1264+145_1264+160del c.1018+145_1018+160del (n.1018+145_1018+160del) c.853+145_853+160del (n.853+145_853+160del) c.1221+145_1221+160del (n.1221+145_1221+160del) c.1209+145_1209+160del (n.1209+145_1209+160del) n.494+145_494+160del c.956-5039_956-5024del (n.956-5039_956-5024del) | gnomAD v3 gnomAD v4 |
14 | g.73212087_73212103del | CA2625561247 | PSEN1 | c.1117+145_1117+161del (n.1117+145_1117+161del) c.1129+145_1129+161del (n.1129+145_1129+161del) n.1879+145_1879+161del c.*84+145_*84+161del (n.*84+145_*84+161del) n.1555+145_1555+161del c.1009+145_1009+161del (n.1009+145_1009+161del) c.*1073+145_*1073+161del (n.*1073+145_*1073+161del) n.6679+145_6679+161del c.*1341+145_*1341+161del (n.*1341+145_*1341+161del) c.944-5039_944-5023del (n.944-5039_944-5023del) c.1172+102_1172+118del (n.1172+102_1172+118del) c.*791+145_*791+161del (n.*791+145_*791+161del) c.*687+145_*687+161del (n.*687+145_*687+161del) c.1030+145_1030+161del (n.1030+145_1030+161del) c.*1218+145_*1218+161del (n.*1218+145_*1218+161del) c.880+145_880+161del (n.880+145_880+161del) c.*1068+145_*1068+161del (n.*1068+145_*1068+161del) c.*909+145_*909+161del (n.*909+145_*909+161del) c.*569+145_*569+161del (n.*569+145_*569+161del) c.1156+145_1156+161del (n.1156+145_1156+161del) c.*597+145_*597+161del (n.*597+145_*597+161del) n.1527+145_1527+161del n.2840+145_2840+161del n.340+145_340+161del n.2128+145_2128+161del n.1264+145_1264+161del c.1018+145_1018+161del (n.1018+145_1018+161del) c.853+145_853+161del (n.853+145_853+161del) c.1221+145_1221+161del (n.1221+145_1221+161del) c.1209+145_1209+161del (n.1209+145_1209+161del) n.494+145_494+161del c.956-5039_956-5023del (n.956-5039_956-5023del) | gnomAD v4 |
14 | g.73212087_73212104del | CA2625561253 | PSEN1 | c.1117+145_1117+162del (n.1117+145_1117+162del) c.1129+145_1129+162del (n.1129+145_1129+162del) n.1879+145_1879+162del c.*84+145_*84+162del (n.*84+145_*84+162del) n.1555+145_1555+162del c.1009+145_1009+162del (n.1009+145_1009+162del) c.*1073+145_*1073+162del (n.*1073+145_*1073+162del) n.6679+145_6679+162del c.*1341+145_*1341+162del (n.*1341+145_*1341+162del) c.944-5039_944-5022del (n.944-5039_944-5022del) c.1172+102_1172+119del (n.1172+102_1172+119del) c.*791+145_*791+162del (n.*791+145_*791+162del) c.*687+145_*687+162del (n.*687+145_*687+162del) c.1030+145_1030+162del (n.1030+145_1030+162del) c.*1218+145_*1218+162del (n.*1218+145_*1218+162del) c.880+145_880+162del (n.880+145_880+162del) c.*1068+145_*1068+162del (n.*1068+145_*1068+162del) c.*909+145_*909+162del (n.*909+145_*909+162del) c.*569+145_*569+162del (n.*569+145_*569+162del) c.1156+145_1156+162del (n.1156+145_1156+162del) c.*597+145_*597+162del (n.*597+145_*597+162del) n.1527+145_1527+162del n.2840+145_2840+162del n.340+145_340+162del n.2128+145_2128+162del n.1264+145_1264+162del c.1018+145_1018+162del (n.1018+145_1018+162del) c.853+145_853+162del (n.853+145_853+162del) c.1221+145_1221+162del (n.1221+145_1221+162del) c.1209+145_1209+162del (n.1209+145_1209+162del) n.494+145_494+162del c.956-5039_956-5022del (n.956-5039_956-5022del) | gnomAD v4 |
14 | g.73212087_73212105del | CA2625561252 | PSEN1 | c.1117+145_1117+163del (n.1117+145_1117+163del) c.1129+145_1129+163del (n.1129+145_1129+163del) n.1879+145_1879+163del c.*84+145_*84+163del (n.*84+145_*84+163del) n.1555+145_1555+163del c.1009+145_1009+163del (n.1009+145_1009+163del) c.*1073+145_*1073+163del (n.*1073+145_*1073+163del) n.6679+145_6679+163del c.*1341+145_*1341+163del (n.*1341+145_*1341+163del) c.944-5039_944-5021del (n.944-5039_944-5021del) c.1172+102_1172+120del (n.1172+102_1172+120del) c.*791+145_*791+163del (n.*791+145_*791+163del) c.*687+145_*687+163del (n.*687+145_*687+163del) c.1030+145_1030+163del (n.1030+145_1030+163del) c.*1218+145_*1218+163del (n.*1218+145_*1218+163del) c.880+145_880+163del (n.880+145_880+163del) c.*1068+145_*1068+163del (n.*1068+145_*1068+163del) c.*909+145_*909+163del (n.*909+145_*909+163del) c.*569+145_*569+163del (n.*569+145_*569+163del) c.1156+145_1156+163del (n.1156+145_1156+163del) c.*597+145_*597+163del (n.*597+145_*597+163del) n.1527+145_1527+163del n.2840+145_2840+163del n.340+145_340+163del n.2128+145_2128+163del n.1264+145_1264+163del c.1018+145_1018+163del (n.1018+145_1018+163del) c.853+145_853+163del (n.853+145_853+163del) c.1221+145_1221+163del (n.1221+145_1221+163del) c.1209+145_1209+163del (n.1209+145_1209+163del) n.494+145_494+163del c.956-5039_956-5021del (n.956-5039_956-5021del) | gnomAD v4 |
14 | g.73212087G>C | CA2625561270 | PSEN1 | c.1117+145G>C (n.1117+145G>C) c.1129+145G>C (n.1129+145G>C) n.1879+145G>C c.*84+145G>C (n.*84+145G>C) n.1555+145G>C c.1009+145G>C (n.1009+145G>C) c.*1073+145G>C (n.*1073+145G>C) n.6679+145G>C c.*1341+145G>C (n.*1341+145G>C) c.944-5039G>C (n.944-5039G>C) c.1172+102G>C (n.1172+102G>C) c.*791+145G>C (n.*791+145G>C) c.*687+145G>C (n.*687+145G>C) c.1030+145G>C (n.1030+145G>C) c.*1218+145G>C (n.*1218+145G>C) c.880+145G>C (n.880+145G>C) c.*1068+145G>C (n.*1068+145G>C) c.*909+145G>C (n.*909+145G>C) c.*569+145G>C (n.*569+145G>C) c.1156+145G>C (n.1156+145G>C) c.*597+145G>C (n.*597+145G>C) n.1527+145G>C n.2840+145G>C n.340+145G>C n.2128+145G>C n.1264+145G>C c.1018+145G>C (n.1018+145G>C) c.853+145G>C (n.853+145G>C) c.1221+145G>C (n.1221+145G>C) c.1209+145G>C (n.1209+145G>C) n.494+145G>C c.956-5039G>C (n.956-5039G>C) | gnomAD v4 |
14 | g.73212087G= | CA2146495503 | PSEN1 | c.1117+145G= (n.1117+145G=) c.1129+145G= (n.1129+145G=) n.1879+145G= c.*84+145G= (n.*84+145G=) n.1555+145G= c.1009+145G= (n.1009+145G=) c.*1073+145G= (n.*1073+145G=) n.6679+145G= c.*1341+145G= (n.*1341+145G=) c.944-5039G= (n.944-5039G=) c.1172+102G= (n.1172+102G=) c.*791+145G= (n.*791+145G=) c.*687+145G= (n.*687+145G=) c.1030+145G= (n.1030+145G=) c.*1218+145G= (n.*1218+145G=) c.880+145G= (n.880+145G=) c.*1068+145G= (n.*1068+145G=) c.*909+145G= (n.*909+145G=) c.*569+145G= (n.*569+145G=) c.1156+145G= (n.1156+145G=) c.*597+145G= (n.*597+145G=) n.1527+145G= n.2840+145G= n.340+145G= n.2128+145G= n.1264+145G= c.1018+145G= (n.1018+145G=) c.853+145G= (n.853+145G=) c.1221+145G= (n.1221+145G=) c.1209+145G= (n.1209+145G=) n.494+145G= c.956-5039G= (n.956-5039G=) | |
14 | g.73212087G>T | CA2625561271 | PSEN1 | c.1117+145G>T (n.1117+145G>T) c.1129+145G>T (n.1129+145G>T) n.1879+145G>T c.*84+145G>T (n.*84+145G>T) n.1555+145G>T c.1009+145G>T (n.1009+145G>T) c.*1073+145G>T (n.*1073+145G>T) n.6679+145G>T c.*1341+145G>T (n.*1341+145G>T) c.944-5039G>T (n.944-5039G>T) c.1172+102G>T (n.1172+102G>T) c.*791+145G>T (n.*791+145G>T) c.*687+145G>T (n.*687+145G>T) c.1030+145G>T (n.1030+145G>T) c.*1218+145G>T (n.*1218+145G>T) c.880+145G>T (n.880+145G>T) c.*1068+145G>T (n.*1068+145G>T) c.*909+145G>T (n.*909+145G>T) c.*569+145G>T (n.*569+145G>T) c.1156+145G>T (n.1156+145G>T) c.*597+145G>T (n.*597+145G>T) n.1527+145G>T n.2840+145G>T n.340+145G>T n.2128+145G>T n.1264+145G>T c.1018+145G>T (n.1018+145G>T) c.853+145G>T (n.853+145G>T) c.1221+145G>T (n.1221+145G>T) c.1209+145G>T (n.1209+145G>T) n.494+145G>T c.956-5039G>T (n.956-5039G>T) | gnomAD v4 |
14 | g.73212087_73212088del | CA2625561269 | PSEN1 | c.1117+145_1117+146del (n.1117+145_1117+146del) c.1129+145_1129+146del (n.1129+145_1129+146del) n.1879+145_1879+146del c.*84+145_*84+146del (n.*84+145_*84+146del) n.1555+145_1555+146del c.1009+145_1009+146del (n.1009+145_1009+146del) c.*1073+145_*1073+146del (n.*1073+145_*1073+146del) n.6679+145_6679+146del c.*1341+145_*1341+146del (n.*1341+145_*1341+146del) c.944-5039_944-5038del (n.944-5039_944-5038del) c.1172+102_1172+103del (n.1172+102_1172+103del) c.*791+145_*791+146del (n.*791+145_*791+146del) c.*687+145_*687+146del (n.*687+145_*687+146del) c.1030+145_1030+146del (n.1030+145_1030+146del) c.*1218+145_*1218+146del (n.*1218+145_*1218+146del) c.880+145_880+146del (n.880+145_880+146del) c.*1068+145_*1068+146del (n.*1068+145_*1068+146del) c.*909+145_*909+146del (n.*909+145_*909+146del) c.*569+145_*569+146del (n.*569+145_*569+146del) c.1156+145_1156+146del (n.1156+145_1156+146del) c.*597+145_*597+146del (n.*597+145_*597+146del) n.1527+145_1527+146del n.2840+145_2840+146del n.340+145_340+146del n.2128+145_2128+146del n.1264+145_1264+146del c.1018+145_1018+146del (n.1018+145_1018+146del) c.853+145_853+146del (n.853+145_853+146del) c.1221+145_1221+146del (n.1221+145_1221+146del) c.1209+145_1209+146del (n.1209+145_1209+146del) n.494+145_494+146del c.956-5039_956-5038del (n.956-5039_956-5038del) | gnomAD v4 |
14 | g.73212087_73212088delinsGC | CA2146495508 | PSEN1 | c.1117+145_1117+146delinsGC (n.1117+145_1117+146delinsGC) c.1129+145_1129+146delinsGC (n.1129+145_1129+146delinsGC) n.1879+145_1879+146delinsGC c.*84+145_*84+146delinsGC (n.*84+145_*84+146delinsGC) n.1555+145_1555+146delinsGC c.1009+145_1009+146delinsGC (n.1009+145_1009+146delinsGC) c.*1073+145_*1073+146delinsGC (n.*1073+145_*1073+146delinsGC) n.6679+145_6679+146delinsGC c.*1341+145_*1341+146delinsGC (n.*1341+145_*1341+146delinsGC) c.944-5039_944-5038delinsGC (n.944-5039_944-5038delinsGC) c.1172+102_1172+103delinsGC (n.1172+102_1172+103delinsGC) c.*791+145_*791+146delinsGC (n.*791+145_*791+146delinsGC) c.*687+145_*687+146delinsGC (n.*687+145_*687+146delinsGC) c.1030+145_1030+146delinsGC (n.1030+145_1030+146delinsGC) c.*1218+145_*1218+146delinsGC (n.*1218+145_*1218+146delinsGC) c.880+145_880+146delinsGC (n.880+145_880+146delinsGC) c.*1068+145_*1068+146delinsGC (n.*1068+145_*1068+146delinsGC) c.*909+145_*909+146delinsGC (n.*909+145_*909+146delinsGC) c.*569+145_*569+146delinsGC (n.*569+145_*569+146delinsGC) c.1156+145_1156+146delinsGC (n.1156+145_1156+146delinsGC) c.*597+145_*597+146delinsGC (n.*597+145_*597+146delinsGC) n.1527+145_1527+146delinsGC n.2840+145_2840+146delinsGC n.340+145_340+146delinsGC n.2128+145_2128+146delinsGC n.1264+145_1264+146delinsGC c.1018+145_1018+146delinsGC (n.1018+145_1018+146delinsGC) c.853+145_853+146delinsGC (n.853+145_853+146delinsGC) c.1221+145_1221+146delinsGC (n.1221+145_1221+146delinsGC) c.1209+145_1209+146delinsGC (n.1209+145_1209+146delinsGC) n.494+145_494+146delinsGC c.956-5039_956-5038delinsGC (n.956-5039_956-5038delinsGC) | |
14 | g.73212087_73212089delinsGCT | CA2146495507 | PSEN1 | c.1117+145_1117+147delinsGCT (n.1117+145_1117+147delinsGCT) c.1129+145_1129+147delinsGCT (n.1129+145_1129+147delinsGCT) n.1879+145_1879+147delinsGCT c.*84+145_*84+147delinsGCT (n.*84+145_*84+147delinsGCT) n.1555+145_1555+147delinsGCT c.1009+145_1009+147delinsGCT (n.1009+145_1009+147delinsGCT) c.*1073+145_*1073+147delinsGCT (n.*1073+145_*1073+147delinsGCT) n.6679+145_6679+147delinsGCT c.*1341+145_*1341+147delinsGCT (n.*1341+145_*1341+147delinsGCT) c.944-5039_944-5037delinsGCT (n.944-5039_944-5037delinsGCT) c.1172+102_1172+104delinsGCT (n.1172+102_1172+104delinsGCT) c.*791+145_*791+147delinsGCT (n.*791+145_*791+147delinsGCT) c.*687+145_*687+147delinsGCT (n.*687+145_*687+147delinsGCT) c.1030+145_1030+147delinsGCT (n.1030+145_1030+147delinsGCT) c.*1218+145_*1218+147delinsGCT (n.*1218+145_*1218+147delinsGCT) c.880+145_880+147delinsGCT (n.880+145_880+147delinsGCT) c.*1068+145_*1068+147delinsGCT (n.*1068+145_*1068+147delinsGCT) c.*909+145_*909+147delinsGCT (n.*909+145_*909+147delinsGCT) c.*569+145_*569+147delinsGCT (n.*569+145_*569+147delinsGCT) c.1156+145_1156+147delinsGCT (n.1156+145_1156+147delinsGCT) c.*597+145_*597+147delinsGCT (n.*597+145_*597+147delinsGCT) n.1527+145_1527+147delinsGCT n.2840+145_2840+147delinsGCT n.340+145_340+147delinsGCT n.2128+145_2128+147delinsGCT n.1264+145_1264+147delinsGCT c.1018+145_1018+147delinsGCT (n.1018+145_1018+147delinsGCT) c.853+145_853+147delinsGCT (n.853+145_853+147delinsGCT) c.1221+145_1221+147delinsGCT (n.1221+145_1221+147delinsGCT) c.1209+145_1209+147delinsGCT (n.1209+145_1209+147delinsGCT) n.494+145_494+147delinsGCT c.956-5039_956-5037delinsGCT (n.956-5039_956-5037delinsGCT) | |
14 | g.73212087_73212090delinsGCTT | CA2146495505 | PSEN1 | c.1117+145_1117+148delinsGCTT (n.1117+145_1117+148delinsGCTT) c.1129+145_1129+148delinsGCTT (n.1129+145_1129+148delinsGCTT) n.1879+145_1879+148delinsGCTT c.*84+145_*84+148delinsGCTT (n.*84+145_*84+148delinsGCTT) n.1555+145_1555+148delinsGCTT c.1009+145_1009+148delinsGCTT (n.1009+145_1009+148delinsGCTT) c.*1073+145_*1073+148delinsGCTT (n.*1073+145_*1073+148delinsGCTT) n.6679+145_6679+148delinsGCTT c.*1341+145_*1341+148delinsGCTT (n.*1341+145_*1341+148delinsGCTT) c.944-5039_944-5036delinsGCTT (n.944-5039_944-5036delinsGCTT) c.1172+102_1172+105delinsGCTT (n.1172+102_1172+105delinsGCTT) c.*791+145_*791+148delinsGCTT (n.*791+145_*791+148delinsGCTT) c.*687+145_*687+148delinsGCTT (n.*687+145_*687+148delinsGCTT) c.1030+145_1030+148delinsGCTT (n.1030+145_1030+148delinsGCTT) c.*1218+145_*1218+148delinsGCTT (n.*1218+145_*1218+148delinsGCTT) c.880+145_880+148delinsGCTT (n.880+145_880+148delinsGCTT) c.*1068+145_*1068+148delinsGCTT (n.*1068+145_*1068+148delinsGCTT) c.*909+145_*909+148delinsGCTT (n.*909+145_*909+148delinsGCTT) c.*569+145_*569+148delinsGCTT (n.*569+145_*569+148delinsGCTT) c.1156+145_1156+148delinsGCTT (n.1156+145_1156+148delinsGCTT) c.*597+145_*597+148delinsGCTT (n.*597+145_*597+148delinsGCTT) n.1527+145_1527+148delinsGCTT n.2840+145_2840+148delinsGCTT n.340+145_340+148delinsGCTT n.2128+145_2128+148delinsGCTT n.1264+145_1264+148delinsGCTT c.1018+145_1018+148delinsGCTT (n.1018+145_1018+148delinsGCTT) c.853+145_853+148delinsGCTT (n.853+145_853+148delinsGCTT) c.1221+145_1221+148delinsGCTT (n.1221+145_1221+148delinsGCTT) c.1209+145_1209+148delinsGCTT (n.1209+145_1209+148delinsGCTT) n.494+145_494+148delinsGCTT c.956-5039_956-5036delinsGCTT (n.956-5039_956-5036delinsGCTT) | |
14 | g.73212087_73212091delinsGCTTT | CA2146495504 | PSEN1 | c.1117+145_1117+149delinsGCTTT (n.1117+145_1117+149delinsGCTTT) c.1129+145_1129+149delinsGCTTT (n.1129+145_1129+149delinsGCTTT) n.1879+145_1879+149delinsGCTTT c.*84+145_*84+149delinsGCTTT (n.*84+145_*84+149delinsGCTTT) n.1555+145_1555+149delinsGCTTT c.1009+145_1009+149delinsGCTTT (n.1009+145_1009+149delinsGCTTT) c.*1073+145_*1073+149delinsGCTTT (n.*1073+145_*1073+149delinsGCTTT) n.6679+145_6679+149delinsGCTTT c.*1341+145_*1341+149delinsGCTTT (n.*1341+145_*1341+149delinsGCTTT) c.944-5039_944-5035delinsGCTTT (n.944-5039_944-5035delinsGCTTT) c.1172+102_1172+106delinsGCTTT (n.1172+102_1172+106delinsGCTTT) c.*791+145_*791+149delinsGCTTT (n.*791+145_*791+149delinsGCTTT) c.*687+145_*687+149delinsGCTTT (n.*687+145_*687+149delinsGCTTT) c.1030+145_1030+149delinsGCTTT (n.1030+145_1030+149delinsGCTTT) c.*1218+145_*1218+149delinsGCTTT (n.*1218+145_*1218+149delinsGCTTT) c.880+145_880+149delinsGCTTT (n.880+145_880+149delinsGCTTT) c.*1068+145_*1068+149delinsGCTTT (n.*1068+145_*1068+149delinsGCTTT) c.*909+145_*909+149delinsGCTTT (n.*909+145_*909+149delinsGCTTT) c.*569+145_*569+149delinsGCTTT (n.*569+145_*569+149delinsGCTTT) c.1156+145_1156+149delinsGCTTT (n.1156+145_1156+149delinsGCTTT) c.*597+145_*597+149delinsGCTTT (n.*597+145_*597+149delinsGCTTT) n.1527+145_1527+149delinsGCTTT n.2840+145_2840+149delinsGCTTT n.340+145_340+149delinsGCTTT n.2128+145_2128+149delinsGCTTT n.1264+145_1264+149delinsGCTTT c.1018+145_1018+149delinsGCTTT (n.1018+145_1018+149delinsGCTTT) c.853+145_853+149delinsGCTTT (n.853+145_853+149delinsGCTTT) c.1221+145_1221+149delinsGCTTT (n.1221+145_1221+149delinsGCTTT) c.1209+145_1209+149delinsGCTTT (n.1209+145_1209+149delinsGCTTT) n.494+145_494+149delinsGCTTT c.956-5039_956-5035delinsGCTTT (n.956-5039_956-5035delinsGCTTT) | |
14 | g.73212087_73212092delinsGCTTTT | CA2146495502 | PSEN1 | c.1117+145_1117+150delinsGCTTTT (n.1117+145_1117+150delinsGCTTTT) c.1129+145_1129+150delinsGCTTTT (n.1129+145_1129+150delinsGCTTTT) n.1879+145_1879+150delinsGCTTTT c.*84+145_*84+150delinsGCTTTT (n.*84+145_*84+150delinsGCTTTT) n.1555+145_1555+150delinsGCTTTT c.1009+145_1009+150delinsGCTTTT (n.1009+145_1009+150delinsGCTTTT) c.*1073+145_*1073+150delinsGCTTTT (n.*1073+145_*1073+150delinsGCTTTT) n.6679+145_6679+150delinsGCTTTT c.*1341+145_*1341+150delinsGCTTTT (n.*1341+145_*1341+150delinsGCTTTT) c.944-5039_944-5034delinsGCTTTT (n.944-5039_944-5034delinsGCTTTT) c.1172+102_1172+107delinsGCTTTT (n.1172+102_1172+107delinsGCTTTT) c.*791+145_*791+150delinsGCTTTT (n.*791+145_*791+150delinsGCTTTT) c.*687+145_*687+150delinsGCTTTT (n.*687+145_*687+150delinsGCTTTT) c.1030+145_1030+150delinsGCTTTT (n.1030+145_1030+150delinsGCTTTT) c.*1218+145_*1218+150delinsGCTTTT (n.*1218+145_*1218+150delinsGCTTTT) c.880+145_880+150delinsGCTTTT (n.880+145_880+150delinsGCTTTT) c.*1068+145_*1068+150delinsGCTTTT (n.*1068+145_*1068+150delinsGCTTTT) c.*909+145_*909+150delinsGCTTTT (n.*909+145_*909+150delinsGCTTTT) c.*569+145_*569+150delinsGCTTTT (n.*569+145_*569+150delinsGCTTTT) c.1156+145_1156+150delinsGCTTTT (n.1156+145_1156+150delinsGCTTTT) c.*597+145_*597+150delinsGCTTTT (n.*597+145_*597+150delinsGCTTTT) n.1527+145_1527+150delinsGCTTTT n.2840+145_2840+150delinsGCTTTT n.340+145_340+150delinsGCTTTT n.2128+145_2128+150delinsGCTTTT n.1264+145_1264+150delinsGCTTTT c.1018+145_1018+150delinsGCTTTT (n.1018+145_1018+150delinsGCTTTT) c.853+145_853+150delinsGCTTTT (n.853+145_853+150delinsGCTTTT) c.1221+145_1221+150delinsGCTTTT (n.1221+145_1221+150delinsGCTTTT) c.1209+145_1209+150delinsGCTTTT (n.1209+145_1209+150delinsGCTTTT) n.494+145_494+150delinsGCTTTT c.956-5039_956-5034delinsGCTTTT (n.956-5039_956-5034delinsGCTTTT) | |
14 | g.73212087_73212094delinsGCTTTTTT | CA2146495499 | PSEN1 | c.1117+145_1117+152delinsGCTTTTTT (n.1117+145_1117+152delinsGCTTTTTT) c.1129+145_1129+152delinsGCTTTTTT (n.1129+145_1129+152delinsGCTTTTTT) n.1879+145_1879+152delinsGCTTTTTT c.*84+145_*84+152delinsGCTTTTTT (n.*84+145_*84+152delinsGCTTTTTT) n.1555+145_1555+152delinsGCTTTTTT c.1009+145_1009+152delinsGCTTTTTT (n.1009+145_1009+152delinsGCTTTTTT) c.*1073+145_*1073+152delinsGCTTTTTT (n.*1073+145_*1073+152delinsGCTTTTTT) n.6679+145_6679+152delinsGCTTTTTT c.*1341+145_*1341+152delinsGCTTTTTT (n.*1341+145_*1341+152delinsGCTTTTTT) c.944-5039_944-5032delinsGCTTTTTT (n.944-5039_944-5032delinsGCTTTTTT) c.1172+102_1172+109delinsGCTTTTTT (n.1172+102_1172+109delinsGCTTTTTT) c.*791+145_*791+152delinsGCTTTTTT (n.*791+145_*791+152delinsGCTTTTTT) c.*687+145_*687+152delinsGCTTTTTT (n.*687+145_*687+152delinsGCTTTTTT) c.1030+145_1030+152delinsGCTTTTTT (n.1030+145_1030+152delinsGCTTTTTT) c.*1218+145_*1218+152delinsGCTTTTTT (n.*1218+145_*1218+152delinsGCTTTTTT) c.880+145_880+152delinsGCTTTTTT (n.880+145_880+152delinsGCTTTTTT) c.*1068+145_*1068+152delinsGCTTTTTT (n.*1068+145_*1068+152delinsGCTTTTTT) c.*909+145_*909+152delinsGCTTTTTT (n.*909+145_*909+152delinsGCTTTTTT) c.*569+145_*569+152delinsGCTTTTTT (n.*569+145_*569+152delinsGCTTTTTT) c.1156+145_1156+152delinsGCTTTTTT (n.1156+145_1156+152delinsGCTTTTTT) c.*597+145_*597+152delinsGCTTTTTT (n.*597+145_*597+152delinsGCTTTTTT) n.1527+145_1527+152delinsGCTTTTTT n.2840+145_2840+152delinsGCTTTTTT n.340+145_340+152delinsGCTTTTTT n.2128+145_2128+152delinsGCTTTTTT n.1264+145_1264+152delinsGCTTTTTT c.1018+145_1018+152delinsGCTTTTTT (n.1018+145_1018+152delinsGCTTTTTT) c.853+145_853+152delinsGCTTTTTT (n.853+145_853+152delinsGCTTTTTT) c.1221+145_1221+152delinsGCTTTTTT (n.1221+145_1221+152delinsGCTTTTTT) c.1209+145_1209+152delinsGCTTTTTT (n.1209+145_1209+152delinsGCTTTTTT) n.494+145_494+152delinsGCTTTTTT c.956-5039_956-5032delinsGCTTTTTT (n.956-5039_956-5032delinsGCTTTTTT) | |
14 | g.73212087_73212095delinsGCTTTTTTT | CA2146495501 | PSEN1 | c.1117+145_1117+153delinsGCTTTTTTT (n.1117+145_1117+153delinsGCTTTTTTT) c.1129+145_1129+153delinsGCTTTTTTT (n.1129+145_1129+153delinsGCTTTTTTT) n.1879+145_1879+153delinsGCTTTTTTT c.*84+145_*84+153delinsGCTTTTTTT (n.*84+145_*84+153delinsGCTTTTTTT) n.1555+145_1555+153delinsGCTTTTTTT c.1009+145_1009+153delinsGCTTTTTTT (n.1009+145_1009+153delinsGCTTTTTTT) c.*1073+145_*1073+153delinsGCTTTTTTT (n.*1073+145_*1073+153delinsGCTTTTTTT) n.6679+145_6679+153delinsGCTTTTTTT c.*1341+145_*1341+153delinsGCTTTTTTT (n.*1341+145_*1341+153delinsGCTTTTTTT) c.944-5039_944-5031delinsGCTTTTTTT (n.944-5039_944-5031delinsGCTTTTTTT) c.1172+102_1172+110delinsGCTTTTTTT (n.1172+102_1172+110delinsGCTTTTTTT) c.*791+145_*791+153delinsGCTTTTTTT (n.*791+145_*791+153delinsGCTTTTTTT) c.*687+145_*687+153delinsGCTTTTTTT (n.*687+145_*687+153delinsGCTTTTTTT) c.1030+145_1030+153delinsGCTTTTTTT (n.1030+145_1030+153delinsGCTTTTTTT) c.*1218+145_*1218+153delinsGCTTTTTTT (n.*1218+145_*1218+153delinsGCTTTTTTT) c.880+145_880+153delinsGCTTTTTTT (n.880+145_880+153delinsGCTTTTTTT) c.*1068+145_*1068+153delinsGCTTTTTTT (n.*1068+145_*1068+153delinsGCTTTTTTT) c.*909+145_*909+153delinsGCTTTTTTT (n.*909+145_*909+153delinsGCTTTTTTT) c.*569+145_*569+153delinsGCTTTTTTT (n.*569+145_*569+153delinsGCTTTTTTT) c.1156+145_1156+153delinsGCTTTTTTT (n.1156+145_1156+153delinsGCTTTTTTT) c.*597+145_*597+153delinsGCTTTTTTT (n.*597+145_*597+153delinsGCTTTTTTT) n.1527+145_1527+153delinsGCTTTTTTT n.2840+145_2840+153delinsGCTTTTTTT n.340+145_340+153delinsGCTTTTTTT n.2128+145_2128+153delinsGCTTTTTTT n.1264+145_1264+153delinsGCTTTTTTT c.1018+145_1018+153delinsGCTTTTTTT (n.1018+145_1018+153delinsGCTTTTTTT) c.853+145_853+153delinsGCTTTTTTT (n.853+145_853+153delinsGCTTTTTTT) c.1221+145_1221+153delinsGCTTTTTTT (n.1221+145_1221+153delinsGCTTTTTTT) c.1209+145_1209+153delinsGCTTTTTTT (n.1209+145_1209+153delinsGCTTTTTTT) n.494+145_494+153delinsGCTTTTTTT c.956-5039_956-5031delinsGCTTTTTTT (n.956-5039_956-5031delinsGCTTTTTTT) | |
14 | g.73212087_73212096delinsGCTTTTTTTT | CA2146495498 | PSEN1 | c.1117+145_1117+154delinsGCTTTTTTTT (n.1117+145_1117+154delinsGCTTTTTTTT) c.1129+145_1129+154delinsGCTTTTTTTT (n.1129+145_1129+154delinsGCTTTTTTTT) n.1879+145_1879+154delinsGCTTTTTTTT c.*84+145_*84+154delinsGCTTTTTTTT (n.*84+145_*84+154delinsGCTTTTTTTT) n.1555+145_1555+154delinsGCTTTTTTTT c.1009+145_1009+154delinsGCTTTTTTTT (n.1009+145_1009+154delinsGCTTTTTTTT) c.*1073+145_*1073+154delinsGCTTTTTTTT (n.*1073+145_*1073+154delinsGCTTTTTTTT) n.6679+145_6679+154delinsGCTTTTTTTT c.*1341+145_*1341+154delinsGCTTTTTTTT (n.*1341+145_*1341+154delinsGCTTTTTTTT) c.944-5039_944-5030delinsGCTTTTTTTT (n.944-5039_944-5030delinsGCTTTTTTTT) c.1172+102_1172+111delinsGCTTTTTTTT (n.1172+102_1172+111delinsGCTTTTTTTT) c.*791+145_*791+154delinsGCTTTTTTTT (n.*791+145_*791+154delinsGCTTTTTTTT) c.*687+145_*687+154delinsGCTTTTTTTT (n.*687+145_*687+154delinsGCTTTTTTTT) c.1030+145_1030+154delinsGCTTTTTTTT (n.1030+145_1030+154delinsGCTTTTTTTT) c.*1218+145_*1218+154delinsGCTTTTTTTT (n.*1218+145_*1218+154delinsGCTTTTTTTT) c.880+145_880+154delinsGCTTTTTTTT (n.880+145_880+154delinsGCTTTTTTTT) c.*1068+145_*1068+154delinsGCTTTTTTTT (n.*1068+145_*1068+154delinsGCTTTTTTTT) c.*909+145_*909+154delinsGCTTTTTTTT (n.*909+145_*909+154delinsGCTTTTTTTT) c.*569+145_*569+154delinsGCTTTTTTTT (n.*569+145_*569+154delinsGCTTTTTTTT) c.1156+145_1156+154delinsGCTTTTTTTT (n.1156+145_1156+154delinsGCTTTTTTTT) c.*597+145_*597+154delinsGCTTTTTTTT (n.*597+145_*597+154delinsGCTTTTTTTT) n.1527+145_1527+154delinsGCTTTTTTTT n.2840+145_2840+154delinsGCTTTTTTTT n.340+145_340+154delinsGCTTTTTTTT n.2128+145_2128+154delinsGCTTTTTTTT n.1264+145_1264+154delinsGCTTTTTTTT c.1018+145_1018+154delinsGCTTTTTTTT (n.1018+145_1018+154delinsGCTTTTTTTT) c.853+145_853+154delinsGCTTTTTTTT (n.853+145_853+154delinsGCTTTTTTTT) c.1221+145_1221+154delinsGCTTTTTTTT (n.1221+145_1221+154delinsGCTTTTTTTT) c.1209+145_1209+154delinsGCTTTTTTTT (n.1209+145_1209+154delinsGCTTTTTTTT) n.494+145_494+154delinsGCTTTTTTTT c.956-5039_956-5030delinsGCTTTTTTTT (n.956-5039_956-5030delinsGCTTTTTTTT) | |
14 | g.73212087_73212088insT | CA964614483 | PSEN1 | c.1117+145_1117+146insT (n.1117+145_1117+146insT) c.1129+145_1129+146insT (n.1129+145_1129+146insT) n.1879+145_1879+146insT c.*84+145_*84+146insT (n.*84+145_*84+146insT) n.1555+145_1555+146insT c.1009+145_1009+146insT (n.1009+145_1009+146insT) c.*1073+145_*1073+146insT (n.*1073+145_*1073+146insT) n.6679+145_6679+146insT c.*1341+145_*1341+146insT (n.*1341+145_*1341+146insT) c.944-5039_944-5038insT (n.944-5039_944-5038insT) c.1172+102_1172+103insT (n.1172+102_1172+103insT) c.*791+145_*791+146insT (n.*791+145_*791+146insT) c.*687+145_*687+146insT (n.*687+145_*687+146insT) c.1030+145_1030+146insT (n.1030+145_1030+146insT) c.*1218+145_*1218+146insT (n.*1218+145_*1218+146insT) c.880+145_880+146insT (n.880+145_880+146insT) c.*1068+145_*1068+146insT (n.*1068+145_*1068+146insT) c.*909+145_*909+146insT (n.*909+145_*909+146insT) c.*569+145_*569+146insT (n.*569+145_*569+146insT) c.1156+145_1156+146insT (n.1156+145_1156+146insT) c.*597+145_*597+146insT (n.*597+145_*597+146insT) n.1527+145_1527+146insT n.2840+145_2840+146insT n.340+145_340+146insT n.2128+145_2128+146insT n.1264+145_1264+146insT c.1018+145_1018+146insT (n.1018+145_1018+146insT) c.853+145_853+146insT (n.853+145_853+146insT) c.1221+145_1221+146insT (n.1221+145_1221+146insT) c.1209+145_1209+146insT (n.1209+145_1209+146insT) n.494+145_494+146insT c.956-5039_956-5038insT (n.956-5039_956-5038insT) | gnomAD v3 gnomAD v4 |
14 | g.73212087_73212088insTT | CA2802117438 | PSEN1 | c.1117+145_1117+146insTT (n.1117+145_1117+146insTT) c.1129+145_1129+146insTT (n.1129+145_1129+146insTT) n.1879+145_1879+146insTT c.*84+145_*84+146insTT (n.*84+145_*84+146insTT) n.1555+145_1555+146insTT c.1009+145_1009+146insTT (n.1009+145_1009+146insTT) c.*1073+145_*1073+146insTT (n.*1073+145_*1073+146insTT) n.6679+145_6679+146insTT c.*1341+145_*1341+146insTT (n.*1341+145_*1341+146insTT) c.944-5039_944-5038insTT (n.944-5039_944-5038insTT) c.1172+102_1172+103insTT (n.1172+102_1172+103insTT) c.*791+145_*791+146insTT (n.*791+145_*791+146insTT) c.*687+145_*687+146insTT (n.*687+145_*687+146insTT) c.1030+145_1030+146insTT (n.1030+145_1030+146insTT) c.*1218+145_*1218+146insTT (n.*1218+145_*1218+146insTT) c.880+145_880+146insTT (n.880+145_880+146insTT) c.*1068+145_*1068+146insTT (n.*1068+145_*1068+146insTT) c.*909+145_*909+146insTT (n.*909+145_*909+146insTT) c.*569+145_*569+146insTT (n.*569+145_*569+146insTT) c.1156+145_1156+146insTT (n.1156+145_1156+146insTT) c.*597+145_*597+146insTT (n.*597+145_*597+146insTT) n.1527+145_1527+146insTT n.2840+145_2840+146insTT n.340+145_340+146insTT n.2128+145_2128+146insTT n.1264+145_1264+146insTT c.1018+145_1018+146insTT (n.1018+145_1018+146insTT) c.853+145_853+146insTT (n.853+145_853+146insTT) c.1221+145_1221+146insTT (n.1221+145_1221+146insTT) c.1209+145_1209+146insTT (n.1209+145_1209+146insTT) n.494+145_494+146insTT c.956-5039_956-5038insTT (n.956-5039_956-5038insTT) | |
14 | g.73212087_73212088insTTT | CA2625561311 | PSEN1 | c.1117+145_1117+146insTTT (n.1117+145_1117+146insTTT) c.1129+145_1129+146insTTT (n.1129+145_1129+146insTTT) n.1879+145_1879+146insTTT c.*84+145_*84+146insTTT (n.*84+145_*84+146insTTT) n.1555+145_1555+146insTTT c.1009+145_1009+146insTTT (n.1009+145_1009+146insTTT) c.*1073+145_*1073+146insTTT (n.*1073+145_*1073+146insTTT) n.6679+145_6679+146insTTT c.*1341+145_*1341+146insTTT (n.*1341+145_*1341+146insTTT) c.944-5039_944-5038insTTT (n.944-5039_944-5038insTTT) c.1172+102_1172+103insTTT (n.1172+102_1172+103insTTT) c.*791+145_*791+146insTTT (n.*791+145_*791+146insTTT) c.*687+145_*687+146insTTT (n.*687+145_*687+146insTTT) c.1030+145_1030+146insTTT (n.1030+145_1030+146insTTT) c.*1218+145_*1218+146insTTT (n.*1218+145_*1218+146insTTT) c.880+145_880+146insTTT (n.880+145_880+146insTTT) c.*1068+145_*1068+146insTTT (n.*1068+145_*1068+146insTTT) c.*909+145_*909+146insTTT (n.*909+145_*909+146insTTT) c.*569+145_*569+146insTTT (n.*569+145_*569+146insTTT) c.1156+145_1156+146insTTT (n.1156+145_1156+146insTTT) c.*597+145_*597+146insTTT (n.*597+145_*597+146insTTT) n.1527+145_1527+146insTTT n.2840+145_2840+146insTTT n.340+145_340+146insTTT n.2128+145_2128+146insTTT n.1264+145_1264+146insTTT c.1018+145_1018+146insTTT (n.1018+145_1018+146insTTT) c.853+145_853+146insTTT (n.853+145_853+146insTTT) c.1221+145_1221+146insTTT (n.1221+145_1221+146insTTT) c.1209+145_1209+146insTTT (n.1209+145_1209+146insTTT) n.494+145_494+146insTTT c.956-5039_956-5038insTTT (n.956-5039_956-5038insTTT) | gnomAD v4 |
14 | g.73212087_73212088insTTTTT | CA2625561310 | PSEN1 | c.1117+145_1117+146insTTTTT (n.1117+145_1117+146insTTTTT) c.1129+145_1129+146insTTTTT (n.1129+145_1129+146insTTTTT) n.1879+145_1879+146insTTTTT c.*84+145_*84+146insTTTTT (n.*84+145_*84+146insTTTTT) n.1555+145_1555+146insTTTTT c.1009+145_1009+146insTTTTT (n.1009+145_1009+146insTTTTT) c.*1073+145_*1073+146insTTTTT (n.*1073+145_*1073+146insTTTTT) n.6679+145_6679+146insTTTTT c.*1341+145_*1341+146insTTTTT (n.*1341+145_*1341+146insTTTTT) c.944-5039_944-5038insTTTTT (n.944-5039_944-5038insTTTTT) c.1172+102_1172+103insTTTTT (n.1172+102_1172+103insTTTTT) c.*791+145_*791+146insTTTTT (n.*791+145_*791+146insTTTTT) c.*687+145_*687+146insTTTTT (n.*687+145_*687+146insTTTTT) c.1030+145_1030+146insTTTTT (n.1030+145_1030+146insTTTTT) c.*1218+145_*1218+146insTTTTT (n.*1218+145_*1218+146insTTTTT) c.880+145_880+146insTTTTT (n.880+145_880+146insTTTTT) c.*1068+145_*1068+146insTTTTT (n.*1068+145_*1068+146insTTTTT) c.*909+145_*909+146insTTTTT (n.*909+145_*909+146insTTTTT) c.*569+145_*569+146insTTTTT (n.*569+145_*569+146insTTTTT) c.1156+145_1156+146insTTTTT (n.1156+145_1156+146insTTTTT) c.*597+145_*597+146insTTTTT (n.*597+145_*597+146insTTTTT) n.1527+145_1527+146insTTTTT n.2840+145_2840+146insTTTTT n.340+145_340+146insTTTTT n.2128+145_2128+146insTTTTT n.1264+145_1264+146insTTTTT c.1018+145_1018+146insTTTTT (n.1018+145_1018+146insTTTTT) c.853+145_853+146insTTTTT (n.853+145_853+146insTTTTT) c.1221+145_1221+146insTTTTT (n.1221+145_1221+146insTTTTT) c.1209+145_1209+146insTTTTT (n.1209+145_1209+146insTTTTT) n.494+145_494+146insTTTTT c.956-5039_956-5038insTTTTT (n.956-5039_956-5038insTTTTT) | gnomAD v4 |
14 | g.73212087_73212088insTTACAGTCTAATT | CA2625561312 | PSEN1 | c.1117+145_1117+146insTTACAGTCTAATT (n.1117+145_1117+146insTTACAGTCTAATT) c.1129+145_1129+146insTTACAGTCTAATT (n.1129+145_1129+146insTTACAGTCTAATT) n.1879+145_1879+146insTTACAGTCTAATT c.*84+145_*84+146insTTACAGTCTAATT (n.*84+145_*84+146insTTACAGTCTAATT) n.1555+145_1555+146insTTACAGTCTAATT c.1009+145_1009+146insTTACAGTCTAATT (n.1009+145_1009+146insTTACAGTCTAATT) c.*1073+145_*1073+146insTTACAGTCTAATT (n.*1073+145_*1073+146insTTACAGTCTAATT) n.6679+145_6679+146insTTACAGTCTAATT c.*1341+145_*1341+146insTTACAGTCTAATT (n.*1341+145_*1341+146insTTACAGTCTAATT) c.944-5039_944-5038insTTACAGTCTAATT (n.944-5039_944-5038insTTACAGTCTAATT) c.1172+102_1172+103insTTACAGTCTAATT (n.1172+102_1172+103insTTACAGTCTAATT) c.*791+145_*791+146insTTACAGTCTAATT (n.*791+145_*791+146insTTACAGTCTAATT) c.*687+145_*687+146insTTACAGTCTAATT (n.*687+145_*687+146insTTACAGTCTAATT) c.1030+145_1030+146insTTACAGTCTAATT (n.1030+145_1030+146insTTACAGTCTAATT) c.*1218+145_*1218+146insTTACAGTCTAATT (n.*1218+145_*1218+146insTTACAGTCTAATT) c.880+145_880+146insTTACAGTCTAATT (n.880+145_880+146insTTACAGTCTAATT) c.*1068+145_*1068+146insTTACAGTCTAATT (n.*1068+145_*1068+146insTTACAGTCTAATT) c.*909+145_*909+146insTTACAGTCTAATT (n.*909+145_*909+146insTTACAGTCTAATT) c.*569+145_*569+146insTTACAGTCTAATT (n.*569+145_*569+146insTTACAGTCTAATT) c.1156+145_1156+146insTTACAGTCTAATT (n.1156+145_1156+146insTTACAGTCTAATT) c.*597+145_*597+146insTTACAGTCTAATT (n.*597+145_*597+146insTTACAGTCTAATT) n.1527+145_1527+146insTTACAGTCTAATT n.2840+145_2840+146insTTACAGTCTAATT n.340+145_340+146insTTACAGTCTAATT n.2128+145_2128+146insTTACAGTCTAATT n.1264+145_1264+146insTTACAGTCTAATT c.1018+145_1018+146insTTACAGTCTAATT (n.1018+145_1018+146insTTACAGTCTAATT) c.853+145_853+146insTTACAGTCTAATT (n.853+145_853+146insTTACAGTCTAATT) c.1221+145_1221+146insTTACAGTCTAATT (n.1221+145_1221+146insTTACAGTCTAATT) c.1209+145_1209+146insTTACAGTCTAATT (n.1209+145_1209+146insTTACAGTCTAATT) n.494+145_494+146insTTACAGTCTAATT c.956-5039_956-5038insTTACAGTCTAATT (n.956-5039_956-5038insTTACAGTCTAATT) | gnomAD v4 |
14 | g.73212088del | CA2146495537 | PSEN1 | c.1117+146del (n.1117+146del) c.1129+146del (n.1129+146del) n.1879+146del c.*84+146del (n.*84+146del) n.1555+146del c.1009+146del (n.1009+146del) c.*1073+146del (n.*1073+146del) n.6679+146del c.*1341+146del (n.*1341+146del) c.944-5038del (n.944-5038del) c.1172+103del (n.1172+103del) c.*791+146del (n.*791+146del) c.*687+146del (n.*687+146del) c.1030+146del (n.1030+146del) c.*1218+146del (n.*1218+146del) c.880+146del (n.880+146del) c.*1068+146del (n.*1068+146del) c.*909+146del (n.*909+146del) c.*569+146del (n.*569+146del) c.1156+146del (n.1156+146del) c.*597+146del (n.*597+146del) n.1527+146del n.2840+146del n.340+146del n.2128+146del n.1264+146del c.1018+146del (n.1018+146del) c.853+146del (n.853+146del) c.1221+146del (n.1221+146del) c.1209+146del (n.1209+146del) n.494+146del c.956-5038del (n.956-5038del) | dbSNP |
14 | g.73212088C= | CA2146495530 | PSEN1 | c.1117+146C= (n.1117+146C=) c.1129+146C= (n.1129+146C=) n.1879+146C= c.*84+146C= (n.*84+146C=) n.1555+146C= c.1009+146C= (n.1009+146C=) c.*1073+146C= (n.*1073+146C=) n.6679+146C= c.*1341+146C= (n.*1341+146C=) c.944-5038C= (n.944-5038C=) c.1172+103C= (n.1172+103C=) c.*791+146C= (n.*791+146C=) c.*687+146C= (n.*687+146C=) c.1030+146C= (n.1030+146C=) c.*1218+146C= (n.*1218+146C=) c.880+146C= (n.880+146C=) c.*1068+146C= (n.*1068+146C=) c.*909+146C= (n.*909+146C=) c.*569+146C= (n.*569+146C=) c.1156+146C= (n.1156+146C=) c.*597+146C= (n.*597+146C=) n.1527+146C= n.2840+146C= n.340+146C= n.2128+146C= n.1264+146C= c.1018+146C= (n.1018+146C=) c.853+146C= (n.853+146C=) c.1221+146C= (n.1221+146C=) c.1209+146C= (n.1209+146C=) n.494+146C= c.956-5038C= (n.956-5038C=) | |
14 | g.73212088C>G | CA487099043 | PSEN1 | c.1117+146C>G (n.1117+146C>G) c.1129+146C>G (n.1129+146C>G) n.1879+146C>G c.*84+146C>G (n.*84+146C>G) n.1555+146C>G c.1009+146C>G (n.1009+146C>G) c.*1073+146C>G (n.*1073+146C>G) n.6679+146C>G c.*1341+146C>G (n.*1341+146C>G) c.944-5038C>G (n.944-5038C>G) c.1172+103C>G (n.1172+103C>G) c.*791+146C>G (n.*791+146C>G) c.*687+146C>G (n.*687+146C>G) c.1030+146C>G (n.1030+146C>G) c.*1218+146C>G (n.*1218+146C>G) c.880+146C>G (n.880+146C>G) c.*1068+146C>G (n.*1068+146C>G) c.*909+146C>G (n.*909+146C>G) c.*569+146C>G (n.*569+146C>G) c.1156+146C>G (n.1156+146C>G) c.*597+146C>G (n.*597+146C>G) n.1527+146C>G n.2840+146C>G n.340+146C>G n.2128+146C>G n.1264+146C>G c.1018+146C>G (n.1018+146C>G) c.853+146C>G (n.853+146C>G) c.1221+146C>G (n.1221+146C>G) c.1209+146C>G (n.1209+146C>G) n.494+146C>G c.956-5038C>G (n.956-5038C>G) | dbSNP gnomAD v4 |
14 | g.73212088C>T | CA964614475 | PSEN1 | c.1117+146C>T (n.1117+146C>T) c.1129+146C>T (n.1129+146C>T) n.1879+146C>T c.*84+146C>T (n.*84+146C>T) n.1555+146C>T c.1009+146C>T (n.1009+146C>T) c.*1073+146C>T (n.*1073+146C>T) n.6679+146C>T c.*1341+146C>T (n.*1341+146C>T) c.944-5038C>T (n.944-5038C>T) c.1172+103C>T (n.1172+103C>T) c.*791+146C>T (n.*791+146C>T) c.*687+146C>T (n.*687+146C>T) c.1030+146C>T (n.1030+146C>T) c.*1218+146C>T (n.*1218+146C>T) c.880+146C>T (n.880+146C>T) c.*1068+146C>T (n.*1068+146C>T) c.*909+146C>T (n.*909+146C>T) c.*569+146C>T (n.*569+146C>T) c.1156+146C>T (n.1156+146C>T) c.*597+146C>T (n.*597+146C>T) n.1527+146C>T n.2840+146C>T n.340+146C>T n.2128+146C>T n.1264+146C>T c.1018+146C>T (n.1018+146C>T) c.853+146C>T (n.853+146C>T) c.1221+146C>T (n.1221+146C>T) c.1209+146C>T (n.1209+146C>T) n.494+146C>T c.956-5038C>T (n.956-5038C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212089del | CA2146495534 | PSEN1 | c.1117+146_1117+147del (n.1117+146_1117+147del) c.1129+146_1129+147del (n.1129+146_1129+147del) n.1879+146_1879+147del c.*84+146_*84+147del (n.*84+146_*84+147del) n.1555+146_1555+147del c.1009+146_1009+147del (n.1009+146_1009+147del) c.*1073+146_*1073+147del (n.*1073+146_*1073+147del) n.6679+146_6679+147del c.*1341+146_*1341+147del (n.*1341+146_*1341+147del) c.944-5038_944-5037del (n.944-5038_944-5037del) c.1172+103_1172+104del (n.1172+103_1172+104del) c.*791+146_*791+147del (n.*791+146_*791+147del) c.*687+146_*687+147del (n.*687+146_*687+147del) c.1030+146_1030+147del (n.1030+146_1030+147del) c.*1218+146_*1218+147del (n.*1218+146_*1218+147del) c.880+146_880+147del (n.880+146_880+147del) c.*1068+146_*1068+147del (n.*1068+146_*1068+147del) c.*909+146_*909+147del (n.*909+146_*909+147del) c.*569+146_*569+147del (n.*569+146_*569+147del) c.1156+146_1156+147del (n.1156+146_1156+147del) c.*597+146_*597+147del (n.*597+146_*597+147del) n.1527+146_1527+147del n.2840+146_2840+147del n.340+146_340+147del n.2128+146_2128+147del n.1264+146_1264+147del c.1018+146_1018+147del (n.1018+146_1018+147del) c.853+146_853+147del (n.853+146_853+147del) c.1221+146_1221+147del (n.1221+146_1221+147del) c.1209+146_1209+147del (n.1209+146_1209+147del) n.494+146_494+147del c.956-5038_956-5037del (n.956-5038_956-5037del) | dbSNP gnomAD v4 |
14 | g.73212088_73212090del | CA2146495536 | PSEN1 | c.1117+146_1117+148del (n.1117+146_1117+148del) c.1129+146_1129+148del (n.1129+146_1129+148del) n.1879+146_1879+148del c.*84+146_*84+148del (n.*84+146_*84+148del) n.1555+146_1555+148del c.1009+146_1009+148del (n.1009+146_1009+148del) c.*1073+146_*1073+148del (n.*1073+146_*1073+148del) n.6679+146_6679+148del c.*1341+146_*1341+148del (n.*1341+146_*1341+148del) c.944-5038_944-5036del (n.944-5038_944-5036del) c.1172+103_1172+105del (n.1172+103_1172+105del) c.*791+146_*791+148del (n.*791+146_*791+148del) c.*687+146_*687+148del (n.*687+146_*687+148del) c.1030+146_1030+148del (n.1030+146_1030+148del) c.*1218+146_*1218+148del (n.*1218+146_*1218+148del) c.880+146_880+148del (n.880+146_880+148del) c.*1068+146_*1068+148del (n.*1068+146_*1068+148del) c.*909+146_*909+148del (n.*909+146_*909+148del) c.*569+146_*569+148del (n.*569+146_*569+148del) c.1156+146_1156+148del (n.1156+146_1156+148del) c.*597+146_*597+148del (n.*597+146_*597+148del) n.1527+146_1527+148del n.2840+146_2840+148del n.340+146_340+148del n.2128+146_2128+148del n.1264+146_1264+148del c.1018+146_1018+148del (n.1018+146_1018+148del) c.853+146_853+148del (n.853+146_853+148del) c.1221+146_1221+148del (n.1221+146_1221+148del) c.1209+146_1209+148del (n.1209+146_1209+148del) n.494+146_494+148del c.956-5038_956-5036del (n.956-5038_956-5036del) | dbSNP gnomAD v4 |
14 | g.73212088_73212091del | CA964614481 | PSEN1 | c.1117+146_1117+149del (n.1117+146_1117+149del) c.1129+146_1129+149del (n.1129+146_1129+149del) n.1879+146_1879+149del c.*84+146_*84+149del (n.*84+146_*84+149del) n.1555+146_1555+149del c.1009+146_1009+149del (n.1009+146_1009+149del) c.*1073+146_*1073+149del (n.*1073+146_*1073+149del) n.6679+146_6679+149del c.*1341+146_*1341+149del (n.*1341+146_*1341+149del) c.944-5038_944-5035del (n.944-5038_944-5035del) c.1172+103_1172+106del (n.1172+103_1172+106del) c.*791+146_*791+149del (n.*791+146_*791+149del) c.*687+146_*687+149del (n.*687+146_*687+149del) c.1030+146_1030+149del (n.1030+146_1030+149del) c.*1218+146_*1218+149del (n.*1218+146_*1218+149del) c.880+146_880+149del (n.880+146_880+149del) c.*1068+146_*1068+149del (n.*1068+146_*1068+149del) c.*909+146_*909+149del (n.*909+146_*909+149del) c.*569+146_*569+149del (n.*569+146_*569+149del) c.1156+146_1156+149del (n.1156+146_1156+149del) c.*597+146_*597+149del (n.*597+146_*597+149del) n.1527+146_1527+149del n.2840+146_2840+149del n.340+146_340+149del n.2128+146_2128+149del n.1264+146_1264+149del c.1018+146_1018+149del (n.1018+146_1018+149del) c.853+146_853+149del (n.853+146_853+149del) c.1221+146_1221+149del (n.1221+146_1221+149del) c.1209+146_1209+149del (n.1209+146_1209+149del) n.494+146_494+149del c.956-5038_956-5035del (n.956-5038_956-5035del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212092del | CA2146495542 | PSEN1 | c.1117+146_1117+150del (n.1117+146_1117+150del) c.1129+146_1129+150del (n.1129+146_1129+150del) n.1879+146_1879+150del c.*84+146_*84+150del (n.*84+146_*84+150del) n.1555+146_1555+150del c.1009+146_1009+150del (n.1009+146_1009+150del) c.*1073+146_*1073+150del (n.*1073+146_*1073+150del) n.6679+146_6679+150del c.*1341+146_*1341+150del (n.*1341+146_*1341+150del) c.944-5038_944-5034del (n.944-5038_944-5034del) c.1172+103_1172+107del (n.1172+103_1172+107del) c.*791+146_*791+150del (n.*791+146_*791+150del) c.*687+146_*687+150del (n.*687+146_*687+150del) c.1030+146_1030+150del (n.1030+146_1030+150del) c.*1218+146_*1218+150del (n.*1218+146_*1218+150del) c.880+146_880+150del (n.880+146_880+150del) c.*1068+146_*1068+150del (n.*1068+146_*1068+150del) c.*909+146_*909+150del (n.*909+146_*909+150del) c.*569+146_*569+150del (n.*569+146_*569+150del) c.1156+146_1156+150del (n.1156+146_1156+150del) c.*597+146_*597+150del (n.*597+146_*597+150del) n.1527+146_1527+150del n.2840+146_2840+150del n.340+146_340+150del n.2128+146_2128+150del n.1264+146_1264+150del c.1018+146_1018+150del (n.1018+146_1018+150del) c.853+146_853+150del (n.853+146_853+150del) c.1221+146_1221+150del (n.1221+146_1221+150del) c.1209+146_1209+150del (n.1209+146_1209+150del) n.494+146_494+150del c.956-5038_956-5034del (n.956-5038_956-5034del) | dbSNP gnomAD v4 |
14 | g.73212088_73212092dup | CA964614474 | PSEN1 | c.1117+146_1117+150dup (n.1117+146_1117+150dup) c.1129+146_1129+150dup (n.1129+146_1129+150dup) n.1879+146_1879+150dup c.*84+146_*84+150dup (n.*84+146_*84+150dup) n.1555+146_1555+150dup c.1009+146_1009+150dup (n.1009+146_1009+150dup) c.*1073+146_*1073+150dup (n.*1073+146_*1073+150dup) n.6679+146_6679+150dup c.*1341+146_*1341+150dup (n.*1341+146_*1341+150dup) c.944-5038_944-5034dup (n.944-5038_944-5034dup) c.1172+103_1172+107dup (n.1172+103_1172+107dup) c.*791+146_*791+150dup (n.*791+146_*791+150dup) c.*687+146_*687+150dup (n.*687+146_*687+150dup) c.1030+146_1030+150dup (n.1030+146_1030+150dup) c.*1218+146_*1218+150dup (n.*1218+146_*1218+150dup) c.880+146_880+150dup (n.880+146_880+150dup) c.*1068+146_*1068+150dup (n.*1068+146_*1068+150dup) c.*909+146_*909+150dup (n.*909+146_*909+150dup) c.*569+146_*569+150dup (n.*569+146_*569+150dup) c.1156+146_1156+150dup (n.1156+146_1156+150dup) c.*597+146_*597+150dup (n.*597+146_*597+150dup) n.1527+146_1527+150dup n.2840+146_2840+150dup n.340+146_340+150dup n.2128+146_2128+150dup n.1264+146_1264+150dup c.1018+146_1018+150dup (n.1018+146_1018+150dup) c.853+146_853+150dup (n.853+146_853+150dup) c.1221+146_1221+150dup (n.1221+146_1221+150dup) c.1209+146_1209+150dup (n.1209+146_1209+150dup) n.494+146_494+150dup c.956-5038_956-5034dup (n.956-5038_956-5034dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212093del | CA2625561306 | PSEN1 | c.1117+146_1117+151del (n.1117+146_1117+151del) c.1129+146_1129+151del (n.1129+146_1129+151del) n.1879+146_1879+151del c.*84+146_*84+151del (n.*84+146_*84+151del) n.1555+146_1555+151del c.1009+146_1009+151del (n.1009+146_1009+151del) c.*1073+146_*1073+151del (n.*1073+146_*1073+151del) n.6679+146_6679+151del c.*1341+146_*1341+151del (n.*1341+146_*1341+151del) c.944-5038_944-5033del (n.944-5038_944-5033del) c.1172+103_1172+108del (n.1172+103_1172+108del) c.*791+146_*791+151del (n.*791+146_*791+151del) c.*687+146_*687+151del (n.*687+146_*687+151del) c.1030+146_1030+151del (n.1030+146_1030+151del) c.*1218+146_*1218+151del (n.*1218+146_*1218+151del) c.880+146_880+151del (n.880+146_880+151del) c.*1068+146_*1068+151del (n.*1068+146_*1068+151del) c.*909+146_*909+151del (n.*909+146_*909+151del) c.*569+146_*569+151del (n.*569+146_*569+151del) c.1156+146_1156+151del (n.1156+146_1156+151del) c.*597+146_*597+151del (n.*597+146_*597+151del) n.1527+146_1527+151del n.2840+146_2840+151del n.340+146_340+151del n.2128+146_2128+151del n.1264+146_1264+151del c.1018+146_1018+151del (n.1018+146_1018+151del) c.853+146_853+151del (n.853+146_853+151del) c.1221+146_1221+151del (n.1221+146_1221+151del) c.1209+146_1209+151del (n.1209+146_1209+151del) n.494+146_494+151del c.956-5038_956-5033del (n.956-5038_956-5033del) | gnomAD v4 |
14 | g.73212088_73212094del | CA2146495540 | PSEN1 | c.1117+146_1117+152del (n.1117+146_1117+152del) c.1129+146_1129+152del (n.1129+146_1129+152del) n.1879+146_1879+152del c.*84+146_*84+152del (n.*84+146_*84+152del) n.1555+146_1555+152del c.1009+146_1009+152del (n.1009+146_1009+152del) c.*1073+146_*1073+152del (n.*1073+146_*1073+152del) n.6679+146_6679+152del c.*1341+146_*1341+152del (n.*1341+146_*1341+152del) c.944-5038_944-5032del (n.944-5038_944-5032del) c.1172+103_1172+109del (n.1172+103_1172+109del) c.*791+146_*791+152del (n.*791+146_*791+152del) c.*687+146_*687+152del (n.*687+146_*687+152del) c.1030+146_1030+152del (n.1030+146_1030+152del) c.*1218+146_*1218+152del (n.*1218+146_*1218+152del) c.880+146_880+152del (n.880+146_880+152del) c.*1068+146_*1068+152del (n.*1068+146_*1068+152del) c.*909+146_*909+152del (n.*909+146_*909+152del) c.*569+146_*569+152del (n.*569+146_*569+152del) c.1156+146_1156+152del (n.1156+146_1156+152del) c.*597+146_*597+152del (n.*597+146_*597+152del) n.1527+146_1527+152del n.2840+146_2840+152del n.340+146_340+152del n.2128+146_2128+152del n.1264+146_1264+152del c.1018+146_1018+152del (n.1018+146_1018+152del) c.853+146_853+152del (n.853+146_853+152del) c.1221+146_1221+152del (n.1221+146_1221+152del) c.1209+146_1209+152del (n.1209+146_1209+152del) n.494+146_494+152del c.956-5038_956-5032del (n.956-5038_956-5032del) | dbSNP gnomAD v4 |
14 | g.73212088_73212095del | CA2146495543 | PSEN1 | c.1117+146_1117+153del (n.1117+146_1117+153del) c.1129+146_1129+153del (n.1129+146_1129+153del) n.1879+146_1879+153del c.*84+146_*84+153del (n.*84+146_*84+153del) n.1555+146_1555+153del c.1009+146_1009+153del (n.1009+146_1009+153del) c.*1073+146_*1073+153del (n.*1073+146_*1073+153del) n.6679+146_6679+153del c.*1341+146_*1341+153del (n.*1341+146_*1341+153del) c.944-5038_944-5031del (n.944-5038_944-5031del) c.1172+103_1172+110del (n.1172+103_1172+110del) c.*791+146_*791+153del (n.*791+146_*791+153del) c.*687+146_*687+153del (n.*687+146_*687+153del) c.1030+146_1030+153del (n.1030+146_1030+153del) c.*1218+146_*1218+153del (n.*1218+146_*1218+153del) c.880+146_880+153del (n.880+146_880+153del) c.*1068+146_*1068+153del (n.*1068+146_*1068+153del) c.*909+146_*909+153del (n.*909+146_*909+153del) c.*569+146_*569+153del (n.*569+146_*569+153del) c.1156+146_1156+153del (n.1156+146_1156+153del) c.*597+146_*597+153del (n.*597+146_*597+153del) n.1527+146_1527+153del n.2840+146_2840+153del n.340+146_340+153del n.2128+146_2128+153del n.1264+146_1264+153del c.1018+146_1018+153del (n.1018+146_1018+153del) c.853+146_853+153del (n.853+146_853+153del) c.1221+146_1221+153del (n.1221+146_1221+153del) c.1209+146_1209+153del (n.1209+146_1209+153del) n.494+146_494+153del c.956-5038_956-5031del (n.956-5038_956-5031del) | dbSNP gnomAD v4 |
14 | g.73212088_73212096del | CA964614480 | PSEN1 | c.1117+146_1117+154del (n.1117+146_1117+154del) c.1129+146_1129+154del (n.1129+146_1129+154del) n.1879+146_1879+154del c.*84+146_*84+154del (n.*84+146_*84+154del) n.1555+146_1555+154del c.1009+146_1009+154del (n.1009+146_1009+154del) c.*1073+146_*1073+154del (n.*1073+146_*1073+154del) n.6679+146_6679+154del c.*1341+146_*1341+154del (n.*1341+146_*1341+154del) c.944-5038_944-5030del (n.944-5038_944-5030del) c.1172+103_1172+111del (n.1172+103_1172+111del) c.*791+146_*791+154del (n.*791+146_*791+154del) c.*687+146_*687+154del (n.*687+146_*687+154del) c.1030+146_1030+154del (n.1030+146_1030+154del) c.*1218+146_*1218+154del (n.*1218+146_*1218+154del) c.880+146_880+154del (n.880+146_880+154del) c.*1068+146_*1068+154del (n.*1068+146_*1068+154del) c.*909+146_*909+154del (n.*909+146_*909+154del) c.*569+146_*569+154del (n.*569+146_*569+154del) c.1156+146_1156+154del (n.1156+146_1156+154del) c.*597+146_*597+154del (n.*597+146_*597+154del) n.1527+146_1527+154del n.2840+146_2840+154del n.340+146_340+154del n.2128+146_2128+154del n.1264+146_1264+154del c.1018+146_1018+154del (n.1018+146_1018+154del) c.853+146_853+154del (n.853+146_853+154del) c.1221+146_1221+154del (n.1221+146_1221+154del) c.1209+146_1209+154del (n.1209+146_1209+154del) n.494+146_494+154del c.956-5038_956-5030del (n.956-5038_956-5030del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212097del | CA964614482 | PSEN1 | c.1117+146_1117+155del (n.1117+146_1117+155del) c.1129+146_1129+155del (n.1129+146_1129+155del) n.1879+146_1879+155del c.*84+146_*84+155del (n.*84+146_*84+155del) n.1555+146_1555+155del c.1009+146_1009+155del (n.1009+146_1009+155del) c.*1073+146_*1073+155del (n.*1073+146_*1073+155del) n.6679+146_6679+155del c.*1341+146_*1341+155del (n.*1341+146_*1341+155del) c.944-5038_944-5029del (n.944-5038_944-5029del) c.1172+103_1172+112del (n.1172+103_1172+112del) c.*791+146_*791+155del (n.*791+146_*791+155del) c.*687+146_*687+155del (n.*687+146_*687+155del) c.1030+146_1030+155del (n.1030+146_1030+155del) c.*1218+146_*1218+155del (n.*1218+146_*1218+155del) c.880+146_880+155del (n.880+146_880+155del) c.*1068+146_*1068+155del (n.*1068+146_*1068+155del) c.*909+146_*909+155del (n.*909+146_*909+155del) c.*569+146_*569+155del (n.*569+146_*569+155del) c.1156+146_1156+155del (n.1156+146_1156+155del) c.*597+146_*597+155del (n.*597+146_*597+155del) n.1527+146_1527+155del n.2840+146_2840+155del n.340+146_340+155del n.2128+146_2128+155del n.1264+146_1264+155del c.1018+146_1018+155del (n.1018+146_1018+155del) c.853+146_853+155del (n.853+146_853+155del) c.1221+146_1221+155del (n.1221+146_1221+155del) c.1209+146_1209+155del (n.1209+146_1209+155del) n.494+146_494+155del c.956-5038_956-5029del (n.956-5038_956-5029del) | gnomAD v3 gnomAD v4 |
14 | g.73212088_73212098del | CA2625561284 | PSEN1 | c.1117+146_1117+156del (n.1117+146_1117+156del) c.1129+146_1129+156del (n.1129+146_1129+156del) n.1879+146_1879+156del c.*84+146_*84+156del (n.*84+146_*84+156del) n.1555+146_1555+156del c.1009+146_1009+156del (n.1009+146_1009+156del) c.*1073+146_*1073+156del (n.*1073+146_*1073+156del) n.6679+146_6679+156del c.*1341+146_*1341+156del (n.*1341+146_*1341+156del) c.944-5038_944-5028del (n.944-5038_944-5028del) c.1172+103_1172+113del (n.1172+103_1172+113del) c.*791+146_*791+156del (n.*791+146_*791+156del) c.*687+146_*687+156del (n.*687+146_*687+156del) c.1030+146_1030+156del (n.1030+146_1030+156del) c.*1218+146_*1218+156del (n.*1218+146_*1218+156del) c.880+146_880+156del (n.880+146_880+156del) c.*1068+146_*1068+156del (n.*1068+146_*1068+156del) c.*909+146_*909+156del (n.*909+146_*909+156del) c.*569+146_*569+156del (n.*569+146_*569+156del) c.1156+146_1156+156del (n.1156+146_1156+156del) c.*597+146_*597+156del (n.*597+146_*597+156del) n.1527+146_1527+156del n.2840+146_2840+156del n.340+146_340+156del n.2128+146_2128+156del n.1264+146_1264+156del c.1018+146_1018+156del (n.1018+146_1018+156del) c.853+146_853+156del (n.853+146_853+156del) c.1221+146_1221+156del (n.1221+146_1221+156del) c.1209+146_1209+156del (n.1209+146_1209+156del) n.494+146_494+156del c.956-5038_956-5028del (n.956-5038_956-5028del) | gnomAD v4 |
14 | g.73212088_73212099del | CA2625561287 | PSEN1 | c.1117+146_1117+157del (n.1117+146_1117+157del) c.1129+146_1129+157del (n.1129+146_1129+157del) n.1879+146_1879+157del c.*84+146_*84+157del (n.*84+146_*84+157del) n.1555+146_1555+157del c.1009+146_1009+157del (n.1009+146_1009+157del) c.*1073+146_*1073+157del (n.*1073+146_*1073+157del) n.6679+146_6679+157del c.*1341+146_*1341+157del (n.*1341+146_*1341+157del) c.944-5038_944-5027del (n.944-5038_944-5027del) c.1172+103_1172+114del (n.1172+103_1172+114del) c.*791+146_*791+157del (n.*791+146_*791+157del) c.*687+146_*687+157del (n.*687+146_*687+157del) c.1030+146_1030+157del (n.1030+146_1030+157del) c.*1218+146_*1218+157del (n.*1218+146_*1218+157del) c.880+146_880+157del (n.880+146_880+157del) c.*1068+146_*1068+157del (n.*1068+146_*1068+157del) c.*909+146_*909+157del (n.*909+146_*909+157del) c.*569+146_*569+157del (n.*569+146_*569+157del) c.1156+146_1156+157del (n.1156+146_1156+157del) c.*597+146_*597+157del (n.*597+146_*597+157del) n.1527+146_1527+157del n.2840+146_2840+157del n.340+146_340+157del n.2128+146_2128+157del n.1264+146_1264+157del c.1018+146_1018+157del (n.1018+146_1018+157del) c.853+146_853+157del (n.853+146_853+157del) c.1221+146_1221+157del (n.1221+146_1221+157del) c.1209+146_1209+157del (n.1209+146_1209+157del) n.494+146_494+157del c.956-5038_956-5027del (n.956-5038_956-5027del) | gnomAD v4 |
14 | g.73212088_73212100del | CA2625561289 | PSEN1 | c.1117+146_1117+158del (n.1117+146_1117+158del) c.1129+146_1129+158del (n.1129+146_1129+158del) n.1879+146_1879+158del c.*84+146_*84+158del (n.*84+146_*84+158del) n.1555+146_1555+158del c.1009+146_1009+158del (n.1009+146_1009+158del) c.*1073+146_*1073+158del (n.*1073+146_*1073+158del) n.6679+146_6679+158del c.*1341+146_*1341+158del (n.*1341+146_*1341+158del) c.944-5038_944-5026del (n.944-5038_944-5026del) c.1172+103_1172+115del (n.1172+103_1172+115del) c.*791+146_*791+158del (n.*791+146_*791+158del) c.*687+146_*687+158del (n.*687+146_*687+158del) c.1030+146_1030+158del (n.1030+146_1030+158del) c.*1218+146_*1218+158del (n.*1218+146_*1218+158del) c.880+146_880+158del (n.880+146_880+158del) c.*1068+146_*1068+158del (n.*1068+146_*1068+158del) c.*909+146_*909+158del (n.*909+146_*909+158del) c.*569+146_*569+158del (n.*569+146_*569+158del) c.1156+146_1156+158del (n.1156+146_1156+158del) c.*597+146_*597+158del (n.*597+146_*597+158del) n.1527+146_1527+158del n.2840+146_2840+158del n.340+146_340+158del n.2128+146_2128+158del n.1264+146_1264+158del c.1018+146_1018+158del (n.1018+146_1018+158del) c.853+146_853+158del (n.853+146_853+158del) c.1221+146_1221+158del (n.1221+146_1221+158del) c.1209+146_1209+158del (n.1209+146_1209+158del) n.494+146_494+158del c.956-5038_956-5026del (n.956-5038_956-5026del) | gnomAD v4 |
14 | g.73212088_73212101del | CA964614479 | PSEN1 | c.1117+146_1117+159del (n.1117+146_1117+159del) c.1129+146_1129+159del (n.1129+146_1129+159del) n.1879+146_1879+159del c.*84+146_*84+159del (n.*84+146_*84+159del) n.1555+146_1555+159del c.1009+146_1009+159del (n.1009+146_1009+159del) c.*1073+146_*1073+159del (n.*1073+146_*1073+159del) n.6679+146_6679+159del c.*1341+146_*1341+159del (n.*1341+146_*1341+159del) c.944-5038_944-5025del (n.944-5038_944-5025del) c.1172+103_1172+116del (n.1172+103_1172+116del) c.*791+146_*791+159del (n.*791+146_*791+159del) c.*687+146_*687+159del (n.*687+146_*687+159del) c.1030+146_1030+159del (n.1030+146_1030+159del) c.*1218+146_*1218+159del (n.*1218+146_*1218+159del) c.880+146_880+159del (n.880+146_880+159del) c.*1068+146_*1068+159del (n.*1068+146_*1068+159del) c.*909+146_*909+159del (n.*909+146_*909+159del) c.*569+146_*569+159del (n.*569+146_*569+159del) c.1156+146_1156+159del (n.1156+146_1156+159del) c.*597+146_*597+159del (n.*597+146_*597+159del) n.1527+146_1527+159del n.2840+146_2840+159del n.340+146_340+159del n.2128+146_2128+159del n.1264+146_1264+159del c.1018+146_1018+159del (n.1018+146_1018+159del) c.853+146_853+159del (n.853+146_853+159del) c.1221+146_1221+159del (n.1221+146_1221+159del) c.1209+146_1209+159del (n.1209+146_1209+159del) n.494+146_494+159del c.956-5038_956-5025del (n.956-5038_956-5025del) | gnomAD v3 gnomAD v4 |
14 | g.73212088_73212102del | CA964614476 | PSEN1 | c.1117+146_1117+160del (n.1117+146_1117+160del) c.1129+146_1129+160del (n.1129+146_1129+160del) n.1879+146_1879+160del c.*84+146_*84+160del (n.*84+146_*84+160del) n.1555+146_1555+160del c.1009+146_1009+160del (n.1009+146_1009+160del) c.*1073+146_*1073+160del (n.*1073+146_*1073+160del) n.6679+146_6679+160del c.*1341+146_*1341+160del (n.*1341+146_*1341+160del) c.944-5038_944-5024del (n.944-5038_944-5024del) c.1172+103_1172+117del (n.1172+103_1172+117del) c.*791+146_*791+160del (n.*791+146_*791+160del) c.*687+146_*687+160del (n.*687+146_*687+160del) c.1030+146_1030+160del (n.1030+146_1030+160del) c.*1218+146_*1218+160del (n.*1218+146_*1218+160del) c.880+146_880+160del (n.880+146_880+160del) c.*1068+146_*1068+160del (n.*1068+146_*1068+160del) c.*909+146_*909+160del (n.*909+146_*909+160del) c.*569+146_*569+160del (n.*569+146_*569+160del) c.1156+146_1156+160del (n.1156+146_1156+160del) c.*597+146_*597+160del (n.*597+146_*597+160del) n.1527+146_1527+160del n.2840+146_2840+160del n.340+146_340+160del n.2128+146_2128+160del n.1264+146_1264+160del c.1018+146_1018+160del (n.1018+146_1018+160del) c.853+146_853+160del (n.853+146_853+160del) c.1221+146_1221+160del (n.1221+146_1221+160del) c.1209+146_1209+160del (n.1209+146_1209+160del) n.494+146_494+160del c.956-5038_956-5024del (n.956-5038_956-5024del) | gnomAD v3 gnomAD v4 |
14 | g.73212088_73212103del | CA2557537602 | PSEN1 | c.1117+146_1117+161del (n.1117+146_1117+161del) c.1129+146_1129+161del (n.1129+146_1129+161del) n.1879+146_1879+161del c.*84+146_*84+161del (n.*84+146_*84+161del) n.1555+146_1555+161del c.1009+146_1009+161del (n.1009+146_1009+161del) c.*1073+146_*1073+161del (n.*1073+146_*1073+161del) n.6679+146_6679+161del c.*1341+146_*1341+161del (n.*1341+146_*1341+161del) c.944-5038_944-5023del (n.944-5038_944-5023del) c.1172+103_1172+118del (n.1172+103_1172+118del) c.*791+146_*791+161del (n.*791+146_*791+161del) c.*687+146_*687+161del (n.*687+146_*687+161del) c.1030+146_1030+161del (n.1030+146_1030+161del) c.*1218+146_*1218+161del (n.*1218+146_*1218+161del) c.880+146_880+161del (n.880+146_880+161del) c.*1068+146_*1068+161del (n.*1068+146_*1068+161del) c.*909+146_*909+161del (n.*909+146_*909+161del) c.*569+146_*569+161del (n.*569+146_*569+161del) c.1156+146_1156+161del (n.1156+146_1156+161del) c.*597+146_*597+161del (n.*597+146_*597+161del) n.1527+146_1527+161del n.2840+146_2840+161del n.340+146_340+161del n.2128+146_2128+161del n.1264+146_1264+161del c.1018+146_1018+161del (n.1018+146_1018+161del) c.853+146_853+161del (n.853+146_853+161del) c.1221+146_1221+161del (n.1221+146_1221+161del) c.1209+146_1209+161del (n.1209+146_1209+161del) n.494+146_494+161del c.956-5038_956-5023del (n.956-5038_956-5023del) | gnomAD v4 |
14 | g.73212088_73212104del | CA2625561291 | PSEN1 | c.1117+146_1117+162del (n.1117+146_1117+162del) c.1129+146_1129+162del (n.1129+146_1129+162del) n.1879+146_1879+162del c.*84+146_*84+162del (n.*84+146_*84+162del) n.1555+146_1555+162del c.1009+146_1009+162del (n.1009+146_1009+162del) c.*1073+146_*1073+162del (n.*1073+146_*1073+162del) n.6679+146_6679+162del c.*1341+146_*1341+162del (n.*1341+146_*1341+162del) c.944-5038_944-5022del (n.944-5038_944-5022del) c.1172+103_1172+119del (n.1172+103_1172+119del) c.*791+146_*791+162del (n.*791+146_*791+162del) c.*687+146_*687+162del (n.*687+146_*687+162del) c.1030+146_1030+162del (n.1030+146_1030+162del) c.*1218+146_*1218+162del (n.*1218+146_*1218+162del) c.880+146_880+162del (n.880+146_880+162del) c.*1068+146_*1068+162del (n.*1068+146_*1068+162del) c.*909+146_*909+162del (n.*909+146_*909+162del) c.*569+146_*569+162del (n.*569+146_*569+162del) c.1156+146_1156+162del (n.1156+146_1156+162del) c.*597+146_*597+162del (n.*597+146_*597+162del) n.1527+146_1527+162del n.2840+146_2840+162del n.340+146_340+162del n.2128+146_2128+162del n.1264+146_1264+162del c.1018+146_1018+162del (n.1018+146_1018+162del) c.853+146_853+162del (n.853+146_853+162del) c.1221+146_1221+162del (n.1221+146_1221+162del) c.1209+146_1209+162del (n.1209+146_1209+162del) n.494+146_494+162del c.956-5038_956-5022del (n.956-5038_956-5022del) | gnomAD v4 |
14 | g.73212088_73212105del | CA2625561293 | PSEN1 | c.1117+146_1117+163del (n.1117+146_1117+163del) c.1129+146_1129+163del (n.1129+146_1129+163del) n.1879+146_1879+163del c.*84+146_*84+163del (n.*84+146_*84+163del) n.1555+146_1555+163del c.1009+146_1009+163del (n.1009+146_1009+163del) c.*1073+146_*1073+163del (n.*1073+146_*1073+163del) n.6679+146_6679+163del c.*1341+146_*1341+163del (n.*1341+146_*1341+163del) c.944-5038_944-5021del (n.944-5038_944-5021del) c.1172+103_1172+120del (n.1172+103_1172+120del) c.*791+146_*791+163del (n.*791+146_*791+163del) c.*687+146_*687+163del (n.*687+146_*687+163del) c.1030+146_1030+163del (n.1030+146_1030+163del) c.*1218+146_*1218+163del (n.*1218+146_*1218+163del) c.880+146_880+163del (n.880+146_880+163del) c.*1068+146_*1068+163del (n.*1068+146_*1068+163del) c.*909+146_*909+163del (n.*909+146_*909+163del) c.*569+146_*569+163del (n.*569+146_*569+163del) c.1156+146_1156+163del (n.1156+146_1156+163del) c.*597+146_*597+163del (n.*597+146_*597+163del) n.1527+146_1527+163del n.2840+146_2840+163del n.340+146_340+163del n.2128+146_2128+163del n.1264+146_1264+163del c.1018+146_1018+163del (n.1018+146_1018+163del) c.853+146_853+163del (n.853+146_853+163del) c.1221+146_1221+163del (n.1221+146_1221+163del) c.1209+146_1209+163del (n.1209+146_1209+163del) n.494+146_494+163del c.956-5038_956-5021del (n.956-5038_956-5021del) | gnomAD v4 |
14 | g.73212088_73212106del | CA2625561296 | PSEN1 | c.1117+146_1117+164del (n.1117+146_1117+164del) c.1129+146_1129+164del (n.1129+146_1129+164del) n.1879+146_1879+164del c.*84+146_*84+164del (n.*84+146_*84+164del) n.1555+146_1555+164del c.1009+146_1009+164del (n.1009+146_1009+164del) c.*1073+146_*1073+164del (n.*1073+146_*1073+164del) n.6679+146_6679+164del c.*1341+146_*1341+164del (n.*1341+146_*1341+164del) c.944-5038_944-5020del (n.944-5038_944-5020del) c.1172+103_1172+121del (n.1172+103_1172+121del) c.*791+146_*791+164del (n.*791+146_*791+164del) c.*687+146_*687+164del (n.*687+146_*687+164del) c.1030+146_1030+164del (n.1030+146_1030+164del) c.*1218+146_*1218+164del (n.*1218+146_*1218+164del) c.880+146_880+164del (n.880+146_880+164del) c.*1068+146_*1068+164del (n.*1068+146_*1068+164del) c.*909+146_*909+164del (n.*909+146_*909+164del) c.*569+146_*569+164del (n.*569+146_*569+164del) c.1156+146_1156+164del (n.1156+146_1156+164del) c.*597+146_*597+164del (n.*597+146_*597+164del) n.1527+146_1527+164del n.2840+146_2840+164del n.340+146_340+164del n.2128+146_2128+164del n.1264+146_1264+164del c.1018+146_1018+164del (n.1018+146_1018+164del) c.853+146_853+164del (n.853+146_853+164del) c.1221+146_1221+164del (n.1221+146_1221+164del) c.1209+146_1209+164del (n.1209+146_1209+164del) n.494+146_494+164del c.956-5038_956-5020del (n.956-5038_956-5020del) | gnomAD v4 |
14 | g.73212088_73212108del | CA2625561299 | PSEN1 | c.1117+146_1117+166del (n.1117+146_1117+166del) c.1129+146_1129+166del (n.1129+146_1129+166del) n.1879+146_1879+166del c.*84+146_*84+166del (n.*84+146_*84+166del) n.1555+146_1555+166del c.1009+146_1009+166del (n.1009+146_1009+166del) c.*1073+146_*1073+166del (n.*1073+146_*1073+166del) n.6679+146_6679+166del c.*1341+146_*1341+166del (n.*1341+146_*1341+166del) c.944-5038_944-5018del (n.944-5038_944-5018del) c.1172+103_1172+123del (n.1172+103_1172+123del) c.*791+146_*791+166del (n.*791+146_*791+166del) c.*687+146_*687+166del (n.*687+146_*687+166del) c.1030+146_1030+166del (n.1030+146_1030+166del) c.*1218+146_*1218+166del (n.*1218+146_*1218+166del) c.880+146_880+166del (n.880+146_880+166del) c.*1068+146_*1068+166del (n.*1068+146_*1068+166del) c.*909+146_*909+166del (n.*909+146_*909+166del) c.*569+146_*569+166del (n.*569+146_*569+166del) c.1156+146_1156+166del (n.1156+146_1156+166del) c.*597+146_*597+166del (n.*597+146_*597+166del) n.1527+146_1527+166del n.2840+146_2840+166del n.340+146_340+166del n.2128+146_2128+166del n.1264+146_1264+166del c.1018+146_1018+166del (n.1018+146_1018+166del) c.853+146_853+166del (n.853+146_853+166del) c.1221+146_1221+166del (n.1221+146_1221+166del) c.1209+146_1209+166del (n.1209+146_1209+166del) n.494+146_494+166del c.956-5038_956-5018del (n.956-5038_956-5018del) | gnomAD v4 |
14 | g.73212088_73212117delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2146495539 | PSEN1 | c.1117+146_1117+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+146_1117+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+146_1129+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+146_1129+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+146_1879+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+146_*84+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+146_*84+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+146_1555+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+146_1009+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+146_1009+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+146_*1073+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+146_*1073+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+146_6679+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+146_*1341+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+146_*1341+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5038_944-5009delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5038_944-5009delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+103_1172+132delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+103_1172+132delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+146_*791+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+146_*791+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+146_*687+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+146_*687+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+146_1030+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+146_1030+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+146_*1218+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+146_*1218+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+146_880+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+146_880+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+146_*1068+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+146_*1068+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+146_*909+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+146_*909+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+146_*569+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+146_*569+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+146_1156+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+146_1156+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+146_*597+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+146_*597+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+146_1527+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+146_2840+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+146_340+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+146_2128+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+146_1264+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+146_1018+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+146_1018+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+146_853+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+146_853+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+146_1221+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+146_1221+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+146_1209+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+146_1209+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+146_494+175delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5038_956-5009delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5038_956-5009delinsCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
14 | g.73212088_73212089insCT | CA964614850 | PSEN1 | c.1117+146_1117+147insCT (n.1117+146_1117+147insCT) c.1129+146_1129+147insCT (n.1129+146_1129+147insCT) n.1879+146_1879+147insCT c.*84+146_*84+147insCT (n.*84+146_*84+147insCT) n.1555+146_1555+147insCT c.1009+146_1009+147insCT (n.1009+146_1009+147insCT) c.*1073+146_*1073+147insCT (n.*1073+146_*1073+147insCT) n.6679+146_6679+147insCT c.*1341+146_*1341+147insCT (n.*1341+146_*1341+147insCT) c.944-5038_944-5037insCT (n.944-5038_944-5037insCT) c.1172+103_1172+104insCT (n.1172+103_1172+104insCT) c.*791+146_*791+147insCT (n.*791+146_*791+147insCT) c.*687+146_*687+147insCT (n.*687+146_*687+147insCT) c.1030+146_1030+147insCT (n.1030+146_1030+147insCT) c.*1218+146_*1218+147insCT (n.*1218+146_*1218+147insCT) c.880+146_880+147insCT (n.880+146_880+147insCT) c.*1068+146_*1068+147insCT (n.*1068+146_*1068+147insCT) c.*909+146_*909+147insCT (n.*909+146_*909+147insCT) c.*569+146_*569+147insCT (n.*569+146_*569+147insCT) c.1156+146_1156+147insCT (n.1156+146_1156+147insCT) c.*597+146_*597+147insCT (n.*597+146_*597+147insCT) n.1527+146_1527+147insCT n.2840+146_2840+147insCT n.340+146_340+147insCT n.2128+146_2128+147insCT n.1264+146_1264+147insCT c.1018+146_1018+147insCT (n.1018+146_1018+147insCT) c.853+146_853+147insCT (n.853+146_853+147insCT) c.1221+146_1221+147insCT (n.1221+146_1221+147insCT) c.1209+146_1209+147insCT (n.1209+146_1209+147insCT) n.494+146_494+147insCT c.956-5038_956-5037insCT (n.956-5038_956-5037insCT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212089insCTTT | CA964614848 | PSEN1 | c.1117+146_1117+147insCTTT (n.1117+146_1117+147insCTTT) c.1129+146_1129+147insCTTT (n.1129+146_1129+147insCTTT) n.1879+146_1879+147insCTTT c.*84+146_*84+147insCTTT (n.*84+146_*84+147insCTTT) n.1555+146_1555+147insCTTT c.1009+146_1009+147insCTTT (n.1009+146_1009+147insCTTT) c.*1073+146_*1073+147insCTTT (n.*1073+146_*1073+147insCTTT) n.6679+146_6679+147insCTTT c.*1341+146_*1341+147insCTTT (n.*1341+146_*1341+147insCTTT) c.944-5038_944-5037insCTTT (n.944-5038_944-5037insCTTT) c.1172+103_1172+104insCTTT (n.1172+103_1172+104insCTTT) c.*791+146_*791+147insCTTT (n.*791+146_*791+147insCTTT) c.*687+146_*687+147insCTTT (n.*687+146_*687+147insCTTT) c.1030+146_1030+147insCTTT (n.1030+146_1030+147insCTTT) c.*1218+146_*1218+147insCTTT (n.*1218+146_*1218+147insCTTT) c.880+146_880+147insCTTT (n.880+146_880+147insCTTT) c.*1068+146_*1068+147insCTTT (n.*1068+146_*1068+147insCTTT) c.*909+146_*909+147insCTTT (n.*909+146_*909+147insCTTT) c.*569+146_*569+147insCTTT (n.*569+146_*569+147insCTTT) c.1156+146_1156+147insCTTT (n.1156+146_1156+147insCTTT) c.*597+146_*597+147insCTTT (n.*597+146_*597+147insCTTT) n.1527+146_1527+147insCTTT n.2840+146_2840+147insCTTT n.340+146_340+147insCTTT n.2128+146_2128+147insCTTT n.1264+146_1264+147insCTTT c.1018+146_1018+147insCTTT (n.1018+146_1018+147insCTTT) c.853+146_853+147insCTTT (n.853+146_853+147insCTTT) c.1221+146_1221+147insCTTT (n.1221+146_1221+147insCTTT) c.1209+146_1209+147insCTTT (n.1209+146_1209+147insCTTT) n.494+146_494+147insCTTT c.956-5038_956-5037insCTTT (n.956-5038_956-5037insCTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212089insCTTTT | CA964614843 | PSEN1 | c.1117+146_1117+147insCTTTT (n.1117+146_1117+147insCTTTT) c.1129+146_1129+147insCTTTT (n.1129+146_1129+147insCTTTT) n.1879+146_1879+147insCTTTT c.*84+146_*84+147insCTTTT (n.*84+146_*84+147insCTTTT) n.1555+146_1555+147insCTTTT c.1009+146_1009+147insCTTTT (n.1009+146_1009+147insCTTTT) c.*1073+146_*1073+147insCTTTT (n.*1073+146_*1073+147insCTTTT) n.6679+146_6679+147insCTTTT c.*1341+146_*1341+147insCTTTT (n.*1341+146_*1341+147insCTTTT) c.944-5038_944-5037insCTTTT (n.944-5038_944-5037insCTTTT) c.1172+103_1172+104insCTTTT (n.1172+103_1172+104insCTTTT) c.*791+146_*791+147insCTTTT (n.*791+146_*791+147insCTTTT) c.*687+146_*687+147insCTTTT (n.*687+146_*687+147insCTTTT) c.1030+146_1030+147insCTTTT (n.1030+146_1030+147insCTTTT) c.*1218+146_*1218+147insCTTTT (n.*1218+146_*1218+147insCTTTT) c.880+146_880+147insCTTTT (n.880+146_880+147insCTTTT) c.*1068+146_*1068+147insCTTTT (n.*1068+146_*1068+147insCTTTT) c.*909+146_*909+147insCTTTT (n.*909+146_*909+147insCTTTT) c.*569+146_*569+147insCTTTT (n.*569+146_*569+147insCTTTT) c.1156+146_1156+147insCTTTT (n.1156+146_1156+147insCTTTT) c.*597+146_*597+147insCTTTT (n.*597+146_*597+147insCTTTT) n.1527+146_1527+147insCTTTT n.2840+146_2840+147insCTTTT n.340+146_340+147insCTTTT n.2128+146_2128+147insCTTTT n.1264+146_1264+147insCTTTT c.1018+146_1018+147insCTTTT (n.1018+146_1018+147insCTTTT) c.853+146_853+147insCTTTT (n.853+146_853+147insCTTTT) c.1221+146_1221+147insCTTTT (n.1221+146_1221+147insCTTTT) c.1209+146_1209+147insCTTTT (n.1209+146_1209+147insCTTTT) n.494+146_494+147insCTTTT c.956-5038_956-5037insCTTTT (n.956-5038_956-5037insCTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212089insCTTTTT | CA964614841 | PSEN1 | c.1117+146_1117+147insCTTTTT (n.1117+146_1117+147insCTTTTT) c.1129+146_1129+147insCTTTTT (n.1129+146_1129+147insCTTTTT) n.1879+146_1879+147insCTTTTT c.*84+146_*84+147insCTTTTT (n.*84+146_*84+147insCTTTTT) n.1555+146_1555+147insCTTTTT c.1009+146_1009+147insCTTTTT (n.1009+146_1009+147insCTTTTT) c.*1073+146_*1073+147insCTTTTT (n.*1073+146_*1073+147insCTTTTT) n.6679+146_6679+147insCTTTTT c.*1341+146_*1341+147insCTTTTT (n.*1341+146_*1341+147insCTTTTT) c.944-5038_944-5037insCTTTTT (n.944-5038_944-5037insCTTTTT) c.1172+103_1172+104insCTTTTT (n.1172+103_1172+104insCTTTTT) c.*791+146_*791+147insCTTTTT (n.*791+146_*791+147insCTTTTT) c.*687+146_*687+147insCTTTTT (n.*687+146_*687+147insCTTTTT) c.1030+146_1030+147insCTTTTT (n.1030+146_1030+147insCTTTTT) c.*1218+146_*1218+147insCTTTTT (n.*1218+146_*1218+147insCTTTTT) c.880+146_880+147insCTTTTT (n.880+146_880+147insCTTTTT) c.*1068+146_*1068+147insCTTTTT (n.*1068+146_*1068+147insCTTTTT) c.*909+146_*909+147insCTTTTT (n.*909+146_*909+147insCTTTTT) c.*569+146_*569+147insCTTTTT (n.*569+146_*569+147insCTTTTT) c.1156+146_1156+147insCTTTTT (n.1156+146_1156+147insCTTTTT) c.*597+146_*597+147insCTTTTT (n.*597+146_*597+147insCTTTTT) n.1527+146_1527+147insCTTTTT n.2840+146_2840+147insCTTTTT n.340+146_340+147insCTTTTT n.2128+146_2128+147insCTTTTT n.1264+146_1264+147insCTTTTT c.1018+146_1018+147insCTTTTT (n.1018+146_1018+147insCTTTTT) c.853+146_853+147insCTTTTT (n.853+146_853+147insCTTTTT) c.1221+146_1221+147insCTTTTT (n.1221+146_1221+147insCTTTTT) c.1209+146_1209+147insCTTTTT (n.1209+146_1209+147insCTTTTT) n.494+146_494+147insCTTTTT c.956-5038_956-5037insCTTTTT (n.956-5038_956-5037insCTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212088_73212089insCTTTTTTTTTTTTTTTTTTTTTTTTT | CA2625561456 | PSEN1 | c.1117+146_1117+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+146_1117+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+146_1129+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+146_1129+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+146_1879+147insCTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+146_*84+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+146_*84+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+146_1555+147insCTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+146_1009+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+146_1009+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+146_*1073+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+146_*1073+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+146_6679+147insCTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+146_*1341+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+146_*1341+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5038_944-5037insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5038_944-5037insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+103_1172+104insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+103_1172+104insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+146_*791+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+146_*791+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+146_*687+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+146_*687+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+146_1030+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+146_1030+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+146_*1218+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+146_*1218+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+146_880+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+146_880+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+146_*1068+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+146_*1068+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+146_*909+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+146_*909+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+146_*569+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+146_*569+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+146_1156+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+146_1156+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+146_*597+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+146_*597+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+146_1527+147insCTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+146_2840+147insCTTTTTTTTTTTTTTTTTTTTTTTTT n.340+146_340+147insCTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+146_2128+147insCTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+146_1264+147insCTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+146_1018+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+146_1018+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+146_853+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+146_853+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+146_1221+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+146_1221+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+146_1209+147insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+146_1209+147insCTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+146_494+147insCTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5038_956-5037insCTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5038_956-5037insCTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
14 | g.73212089T>A | CA708388915 | PSEN1 | c.1117+147T>A (n.1117+147T>A) c.1129+147T>A (n.1129+147T>A) n.1879+147T>A c.*84+147T>A (n.*84+147T>A) n.1555+147T>A c.1009+147T>A (n.1009+147T>A) c.*1073+147T>A (n.*1073+147T>A) n.6679+147T>A c.*1341+147T>A (n.*1341+147T>A) c.944-5037T>A (n.944-5037T>A) c.1172+104T>A (n.1172+104T>A) c.*791+147T>A (n.*791+147T>A) c.*687+147T>A (n.*687+147T>A) c.1030+147T>A (n.1030+147T>A) c.*1218+147T>A (n.*1218+147T>A) c.880+147T>A (n.880+147T>A) c.*1068+147T>A (n.*1068+147T>A) c.*909+147T>A (n.*909+147T>A) c.*569+147T>A (n.*569+147T>A) c.1156+147T>A (n.1156+147T>A) c.*597+147T>A (n.*597+147T>A) n.1527+147T>A n.2840+147T>A n.340+147T>A n.2128+147T>A n.1264+147T>A c.1018+147T>A (n.1018+147T>A) c.853+147T>A (n.853+147T>A) c.1221+147T>A (n.1221+147T>A) c.1209+147T>A (n.1209+147T>A) n.494+147T>A c.956-5037T>A (n.956-5037T>A) | dbSNP |
14 | g.73212089T>C | CA262618860 | PSEN1 | c.1117+147T>C (n.1117+147T>C) c.1129+147T>C (n.1129+147T>C) n.1879+147T>C c.*84+147T>C (n.*84+147T>C) n.1555+147T>C c.1009+147T>C (n.1009+147T>C) c.*1073+147T>C (n.*1073+147T>C) n.6679+147T>C c.*1341+147T>C (n.*1341+147T>C) c.944-5037T>C (n.944-5037T>C) c.1172+104T>C (n.1172+104T>C) c.*791+147T>C (n.*791+147T>C) c.*687+147T>C (n.*687+147T>C) c.1030+147T>C (n.1030+147T>C) c.*1218+147T>C (n.*1218+147T>C) c.880+147T>C (n.880+147T>C) c.*1068+147T>C (n.*1068+147T>C) c.*909+147T>C (n.*909+147T>C) c.*569+147T>C (n.*569+147T>C) c.1156+147T>C (n.1156+147T>C) c.*597+147T>C (n.*597+147T>C) n.1527+147T>C n.2840+147T>C n.340+147T>C n.2128+147T>C n.1264+147T>C c.1018+147T>C (n.1018+147T>C) c.853+147T>C (n.853+147T>C) c.1221+147T>C (n.1221+147T>C) c.1209+147T>C (n.1209+147T>C) n.494+147T>C c.956-5037T>C (n.956-5037T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212089T= | CA2146495558 | PSEN1 | c.1117+147T= (n.1117+147T=) c.1129+147T= (n.1129+147T=) n.1879+147T= c.*84+147T= (n.*84+147T=) n.1555+147T= c.1009+147T= (n.1009+147T=) c.*1073+147T= (n.*1073+147T=) n.6679+147T= c.*1341+147T= (n.*1341+147T=) c.944-5037T= (n.944-5037T=) c.1172+104T= (n.1172+104T=) c.*791+147T= (n.*791+147T=) c.*687+147T= (n.*687+147T=) c.1030+147T= (n.1030+147T=) c.*1218+147T= (n.*1218+147T=) c.880+147T= (n.880+147T=) c.*1068+147T= (n.*1068+147T=) c.*909+147T= (n.*909+147T=) c.*569+147T= (n.*569+147T=) c.1156+147T= (n.1156+147T=) c.*597+147T= (n.*597+147T=) n.1527+147T= n.2840+147T= n.340+147T= n.2128+147T= n.1264+147T= c.1018+147T= (n.1018+147T=) c.853+147T= (n.853+147T=) c.1221+147T= (n.1221+147T=) c.1209+147T= (n.1209+147T=) n.494+147T= c.956-5037T= (n.956-5037T=) | |
14 | g.73212089_73212090insATTTTTTTTT | CA2802117583 | PSEN1 | c.1117+147_1117+148insATTTTTTTTT (n.1117+147_1117+148insATTTTTTTTT) c.1129+147_1129+148insATTTTTTTTT (n.1129+147_1129+148insATTTTTTTTT) n.1879+147_1879+148insATTTTTTTTT c.*84+147_*84+148insATTTTTTTTT (n.*84+147_*84+148insATTTTTTTTT) n.1555+147_1555+148insATTTTTTTTT c.1009+147_1009+148insATTTTTTTTT (n.1009+147_1009+148insATTTTTTTTT) c.*1073+147_*1073+148insATTTTTTTTT (n.*1073+147_*1073+148insATTTTTTTTT) n.6679+147_6679+148insATTTTTTTTT c.*1341+147_*1341+148insATTTTTTTTT (n.*1341+147_*1341+148insATTTTTTTTT) c.944-5037_944-5036insATTTTTTTTT (n.944-5037_944-5036insATTTTTTTTT) c.1172+104_1172+105insATTTTTTTTT (n.1172+104_1172+105insATTTTTTTTT) c.*791+147_*791+148insATTTTTTTTT (n.*791+147_*791+148insATTTTTTTTT) c.*687+147_*687+148insATTTTTTTTT (n.*687+147_*687+148insATTTTTTTTT) c.1030+147_1030+148insATTTTTTTTT (n.1030+147_1030+148insATTTTTTTTT) c.*1218+147_*1218+148insATTTTTTTTT (n.*1218+147_*1218+148insATTTTTTTTT) c.880+147_880+148insATTTTTTTTT (n.880+147_880+148insATTTTTTTTT) c.*1068+147_*1068+148insATTTTTTTTT (n.*1068+147_*1068+148insATTTTTTTTT) c.*909+147_*909+148insATTTTTTTTT (n.*909+147_*909+148insATTTTTTTTT) c.*569+147_*569+148insATTTTTTTTT (n.*569+147_*569+148insATTTTTTTTT) c.1156+147_1156+148insATTTTTTTTT (n.1156+147_1156+148insATTTTTTTTT) c.*597+147_*597+148insATTTTTTTTT (n.*597+147_*597+148insATTTTTTTTT) n.1527+147_1527+148insATTTTTTTTT n.2840+147_2840+148insATTTTTTTTT n.340+147_340+148insATTTTTTTTT n.2128+147_2128+148insATTTTTTTTT n.1264+147_1264+148insATTTTTTTTT c.1018+147_1018+148insATTTTTTTTT (n.1018+147_1018+148insATTTTTTTTT) c.853+147_853+148insATTTTTTTTT (n.853+147_853+148insATTTTTTTTT) c.1221+147_1221+148insATTTTTTTTT (n.1221+147_1221+148insATTTTTTTTT) c.1209+147_1209+148insATTTTTTTTT (n.1209+147_1209+148insATTTTTTTTT) n.494+147_494+148insATTTTTTTTT c.956-5037_956-5036insATTTTTTTTT (n.956-5037_956-5036insATTTTTTTTT) | |
14 | g.73212089_73212090insGTTTTTTTTTTT | CA2500158075 | PSEN1 | c.1117+147_1117+148insGTTTTTTTTTTT (n.1117+147_1117+148insGTTTTTTTTTTT) c.1129+147_1129+148insGTTTTTTTTTTT (n.1129+147_1129+148insGTTTTTTTTTTT) n.1879+147_1879+148insGTTTTTTTTTTT c.*84+147_*84+148insGTTTTTTTTTTT (n.*84+147_*84+148insGTTTTTTTTTTT) n.1555+147_1555+148insGTTTTTTTTTTT c.1009+147_1009+148insGTTTTTTTTTTT (n.1009+147_1009+148insGTTTTTTTTTTT) c.*1073+147_*1073+148insGTTTTTTTTTTT (n.*1073+147_*1073+148insGTTTTTTTTTTT) n.6679+147_6679+148insGTTTTTTTTTTT c.*1341+147_*1341+148insGTTTTTTTTTTT (n.*1341+147_*1341+148insGTTTTTTTTTTT) c.944-5037_944-5036insGTTTTTTTTTTT (n.944-5037_944-5036insGTTTTTTTTTTT) c.1172+104_1172+105insGTTTTTTTTTTT (n.1172+104_1172+105insGTTTTTTTTTTT) c.*791+147_*791+148insGTTTTTTTTTTT (n.*791+147_*791+148insGTTTTTTTTTTT) c.*687+147_*687+148insGTTTTTTTTTTT (n.*687+147_*687+148insGTTTTTTTTTTT) c.1030+147_1030+148insGTTTTTTTTTTT (n.1030+147_1030+148insGTTTTTTTTTTT) c.*1218+147_*1218+148insGTTTTTTTTTTT (n.*1218+147_*1218+148insGTTTTTTTTTTT) c.880+147_880+148insGTTTTTTTTTTT (n.880+147_880+148insGTTTTTTTTTTT) c.*1068+147_*1068+148insGTTTTTTTTTTT (n.*1068+147_*1068+148insGTTTTTTTTTTT) c.*909+147_*909+148insGTTTTTTTTTTT (n.*909+147_*909+148insGTTTTTTTTTTT) c.*569+147_*569+148insGTTTTTTTTTTT (n.*569+147_*569+148insGTTTTTTTTTTT) c.1156+147_1156+148insGTTTTTTTTTTT (n.1156+147_1156+148insGTTTTTTTTTTT) c.*597+147_*597+148insGTTTTTTTTTTT (n.*597+147_*597+148insGTTTTTTTTTTT) n.1527+147_1527+148insGTTTTTTTTTTT n.2840+147_2840+148insGTTTTTTTTTTT n.340+147_340+148insGTTTTTTTTTTT n.2128+147_2128+148insGTTTTTTTTTTT n.1264+147_1264+148insGTTTTTTTTTTT c.1018+147_1018+148insGTTTTTTTTTTT (n.1018+147_1018+148insGTTTTTTTTTTT) c.853+147_853+148insGTTTTTTTTTTT (n.853+147_853+148insGTTTTTTTTTTT) c.1221+147_1221+148insGTTTTTTTTTTT (n.1221+147_1221+148insGTTTTTTTTTTT) c.1209+147_1209+148insGTTTTTTTTTTT (n.1209+147_1209+148insGTTTTTTTTTTT) n.494+147_494+148insGTTTTTTTTTTT c.956-5037_956-5036insGTTTTTTTTTTT (n.956-5037_956-5036insGTTTTTTTTTTT) | |
14 | g.73212089_73212090insGTTTTTTTTTTTTTTTTTTT | CA2802117578 | PSEN1 | c.1117+147_1117+148insGTTTTTTTTTTTTTTTTTTT (n.1117+147_1117+148insGTTTTTTTTTTTTTTTTTTT) c.1129+147_1129+148insGTTTTTTTTTTTTTTTTTTT (n.1129+147_1129+148insGTTTTTTTTTTTTTTTTTTT) n.1879+147_1879+148insGTTTTTTTTTTTTTTTTTTT c.*84+147_*84+148insGTTTTTTTTTTTTTTTTTTT (n.*84+147_*84+148insGTTTTTTTTTTTTTTTTTTT) n.1555+147_1555+148insGTTTTTTTTTTTTTTTTTTT c.1009+147_1009+148insGTTTTTTTTTTTTTTTTTTT (n.1009+147_1009+148insGTTTTTTTTTTTTTTTTTTT) c.*1073+147_*1073+148insGTTTTTTTTTTTTTTTTTTT (n.*1073+147_*1073+148insGTTTTTTTTTTTTTTTTTTT) n.6679+147_6679+148insGTTTTTTTTTTTTTTTTTTT c.*1341+147_*1341+148insGTTTTTTTTTTTTTTTTTTT (n.*1341+147_*1341+148insGTTTTTTTTTTTTTTTTTTT) c.944-5037_944-5036insGTTTTTTTTTTTTTTTTTTT (n.944-5037_944-5036insGTTTTTTTTTTTTTTTTTTT) c.1172+104_1172+105insGTTTTTTTTTTTTTTTTTTT (n.1172+104_1172+105insGTTTTTTTTTTTTTTTTTTT) c.*791+147_*791+148insGTTTTTTTTTTTTTTTTTTT (n.*791+147_*791+148insGTTTTTTTTTTTTTTTTTTT) c.*687+147_*687+148insGTTTTTTTTTTTTTTTTTTT (n.*687+147_*687+148insGTTTTTTTTTTTTTTTTTTT) c.1030+147_1030+148insGTTTTTTTTTTTTTTTTTTT (n.1030+147_1030+148insGTTTTTTTTTTTTTTTTTTT) c.*1218+147_*1218+148insGTTTTTTTTTTTTTTTTTTT (n.*1218+147_*1218+148insGTTTTTTTTTTTTTTTTTTT) c.880+147_880+148insGTTTTTTTTTTTTTTTTTTT (n.880+147_880+148insGTTTTTTTTTTTTTTTTTTT) c.*1068+147_*1068+148insGTTTTTTTTTTTTTTTTTTT (n.*1068+147_*1068+148insGTTTTTTTTTTTTTTTTTTT) c.*909+147_*909+148insGTTTTTTTTTTTTTTTTTTT (n.*909+147_*909+148insGTTTTTTTTTTTTTTTTTTT) c.*569+147_*569+148insGTTTTTTTTTTTTTTTTTTT (n.*569+147_*569+148insGTTTTTTTTTTTTTTTTTTT) c.1156+147_1156+148insGTTTTTTTTTTTTTTTTTTT (n.1156+147_1156+148insGTTTTTTTTTTTTTTTTTTT) c.*597+147_*597+148insGTTTTTTTTTTTTTTTTTTT (n.*597+147_*597+148insGTTTTTTTTTTTTTTTTTTT) n.1527+147_1527+148insGTTTTTTTTTTTTTTTTTTT n.2840+147_2840+148insGTTTTTTTTTTTTTTTTTTT n.340+147_340+148insGTTTTTTTTTTTTTTTTTTT n.2128+147_2128+148insGTTTTTTTTTTTTTTTTTTT n.1264+147_1264+148insGTTTTTTTTTTTTTTTTTTT c.1018+147_1018+148insGTTTTTTTTTTTTTTTTTTT (n.1018+147_1018+148insGTTTTTTTTTTTTTTTTTTT) c.853+147_853+148insGTTTTTTTTTTTTTTTTTTT (n.853+147_853+148insGTTTTTTTTTTTTTTTTTTT) c.1221+147_1221+148insGTTTTTTTTTTTTTTTTTTT (n.1221+147_1221+148insGTTTTTTTTTTTTTTTTTTT) c.1209+147_1209+148insGTTTTTTTTTTTTTTTTTTT (n.1209+147_1209+148insGTTTTTTTTTTTTTTTTTTT) n.494+147_494+148insGTTTTTTTTTTTTTTTTTTT c.956-5037_956-5036insGTTTTTTTTTTTTTTTTTTT (n.956-5037_956-5036insGTTTTTTTTTTTTTTTTTTT) | |
14 | g.73212090_73212091insGTTTTTT | CA964614837 | PSEN1 | c.1117+148_1117+149insGTTTTTT (n.1117+148_1117+149insGTTTTTT) c.1129+148_1129+149insGTTTTTT (n.1129+148_1129+149insGTTTTTT) n.1879+148_1879+149insGTTTTTT c.*84+148_*84+149insGTTTTTT (n.*84+148_*84+149insGTTTTTT) n.1555+148_1555+149insGTTTTTT c.1009+148_1009+149insGTTTTTT (n.1009+148_1009+149insGTTTTTT) c.*1073+148_*1073+149insGTTTTTT (n.*1073+148_*1073+149insGTTTTTT) n.6679+148_6679+149insGTTTTTT c.*1341+148_*1341+149insGTTTTTT (n.*1341+148_*1341+149insGTTTTTT) c.944-5036_944-5035insGTTTTTT (n.944-5036_944-5035insGTTTTTT) c.1172+105_1172+106insGTTTTTT (n.1172+105_1172+106insGTTTTTT) c.*791+148_*791+149insGTTTTTT (n.*791+148_*791+149insGTTTTTT) c.*687+148_*687+149insGTTTTTT (n.*687+148_*687+149insGTTTTTT) c.1030+148_1030+149insGTTTTTT (n.1030+148_1030+149insGTTTTTT) c.*1218+148_*1218+149insGTTTTTT (n.*1218+148_*1218+149insGTTTTTT) c.880+148_880+149insGTTTTTT (n.880+148_880+149insGTTTTTT) c.*1068+148_*1068+149insGTTTTTT (n.*1068+148_*1068+149insGTTTTTT) c.*909+148_*909+149insGTTTTTT (n.*909+148_*909+149insGTTTTTT) c.*569+148_*569+149insGTTTTTT (n.*569+148_*569+149insGTTTTTT) c.1156+148_1156+149insGTTTTTT (n.1156+148_1156+149insGTTTTTT) c.*597+148_*597+149insGTTTTTT (n.*597+148_*597+149insGTTTTTT) n.1527+148_1527+149insGTTTTTT n.2840+148_2840+149insGTTTTTT n.340+148_340+149insGTTTTTT n.2128+148_2128+149insGTTTTTT n.1264+148_1264+149insGTTTTTT c.1018+148_1018+149insGTTTTTT (n.1018+148_1018+149insGTTTTTT) c.853+148_853+149insGTTTTTT (n.853+148_853+149insGTTTTTT) c.1221+148_1221+149insGTTTTTT (n.1221+148_1221+149insGTTTTTT) c.1209+148_1209+149insGTTTTTT (n.1209+148_1209+149insGTTTTTT) n.494+148_494+149insGTTTTTT c.956-5036_956-5035insGTTTTTT (n.956-5036_956-5035insGTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212090_73212091insGTTTTTTTTTTT | CA964614834 | PSEN1 | c.1117+148_1117+149insGTTTTTTTTTTT (n.1117+148_1117+149insGTTTTTTTTTTT) c.1129+148_1129+149insGTTTTTTTTTTT (n.1129+148_1129+149insGTTTTTTTTTTT) n.1879+148_1879+149insGTTTTTTTTTTT c.*84+148_*84+149insGTTTTTTTTTTT (n.*84+148_*84+149insGTTTTTTTTTTT) n.1555+148_1555+149insGTTTTTTTTTTT c.1009+148_1009+149insGTTTTTTTTTTT (n.1009+148_1009+149insGTTTTTTTTTTT) c.*1073+148_*1073+149insGTTTTTTTTTTT (n.*1073+148_*1073+149insGTTTTTTTTTTT) n.6679+148_6679+149insGTTTTTTTTTTT c.*1341+148_*1341+149insGTTTTTTTTTTT (n.*1341+148_*1341+149insGTTTTTTTTTTT) c.944-5036_944-5035insGTTTTTTTTTTT (n.944-5036_944-5035insGTTTTTTTTTTT) c.1172+105_1172+106insGTTTTTTTTTTT (n.1172+105_1172+106insGTTTTTTTTTTT) c.*791+148_*791+149insGTTTTTTTTTTT (n.*791+148_*791+149insGTTTTTTTTTTT) c.*687+148_*687+149insGTTTTTTTTTTT (n.*687+148_*687+149insGTTTTTTTTTTT) c.1030+148_1030+149insGTTTTTTTTTTT (n.1030+148_1030+149insGTTTTTTTTTTT) c.*1218+148_*1218+149insGTTTTTTTTTTT (n.*1218+148_*1218+149insGTTTTTTTTTTT) c.880+148_880+149insGTTTTTTTTTTT (n.880+148_880+149insGTTTTTTTTTTT) c.*1068+148_*1068+149insGTTTTTTTTTTT (n.*1068+148_*1068+149insGTTTTTTTTTTT) c.*909+148_*909+149insGTTTTTTTTTTT (n.*909+148_*909+149insGTTTTTTTTTTT) c.*569+148_*569+149insGTTTTTTTTTTT (n.*569+148_*569+149insGTTTTTTTTTTT) c.1156+148_1156+149insGTTTTTTTTTTT (n.1156+148_1156+149insGTTTTTTTTTTT) c.*597+148_*597+149insGTTTTTTTTTTT (n.*597+148_*597+149insGTTTTTTTTTTT) n.1527+148_1527+149insGTTTTTTTTTTT n.2840+148_2840+149insGTTTTTTTTTTT n.340+148_340+149insGTTTTTTTTTTT n.2128+148_2128+149insGTTTTTTTTTTT n.1264+148_1264+149insGTTTTTTTTTTT c.1018+148_1018+149insGTTTTTTTTTTT (n.1018+148_1018+149insGTTTTTTTTTTT) c.853+148_853+149insGTTTTTTTTTTT (n.853+148_853+149insGTTTTTTTTTTT) c.1221+148_1221+149insGTTTTTTTTTTT (n.1221+148_1221+149insGTTTTTTTTTTT) c.1209+148_1209+149insGTTTTTTTTTTT (n.1209+148_1209+149insGTTTTTTTTTTT) n.494+148_494+149insGTTTTTTTTTTT c.956-5036_956-5035insGTTTTTTTTTTT (n.956-5036_956-5035insGTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212090_73212091insGTTTTTTTTTTTTTTTTTTT | CA2802117573 | PSEN1 | c.1117+148_1117+149insGTTTTTTTTTTTTTTTTTTT (n.1117+148_1117+149insGTTTTTTTTTTTTTTTTTTT) c.1129+148_1129+149insGTTTTTTTTTTTTTTTTTTT (n.1129+148_1129+149insGTTTTTTTTTTTTTTTTTTT) n.1879+148_1879+149insGTTTTTTTTTTTTTTTTTTT c.*84+148_*84+149insGTTTTTTTTTTTTTTTTTTT (n.*84+148_*84+149insGTTTTTTTTTTTTTTTTTTT) n.1555+148_1555+149insGTTTTTTTTTTTTTTTTTTT c.1009+148_1009+149insGTTTTTTTTTTTTTTTTTTT (n.1009+148_1009+149insGTTTTTTTTTTTTTTTTTTT) c.*1073+148_*1073+149insGTTTTTTTTTTTTTTTTTTT (n.*1073+148_*1073+149insGTTTTTTTTTTTTTTTTTTT) n.6679+148_6679+149insGTTTTTTTTTTTTTTTTTTT c.*1341+148_*1341+149insGTTTTTTTTTTTTTTTTTTT (n.*1341+148_*1341+149insGTTTTTTTTTTTTTTTTTTT) c.944-5036_944-5035insGTTTTTTTTTTTTTTTTTTT (n.944-5036_944-5035insGTTTTTTTTTTTTTTTTTTT) c.1172+105_1172+106insGTTTTTTTTTTTTTTTTTTT (n.1172+105_1172+106insGTTTTTTTTTTTTTTTTTTT) c.*791+148_*791+149insGTTTTTTTTTTTTTTTTTTT (n.*791+148_*791+149insGTTTTTTTTTTTTTTTTTTT) c.*687+148_*687+149insGTTTTTTTTTTTTTTTTTTT (n.*687+148_*687+149insGTTTTTTTTTTTTTTTTTTT) c.1030+148_1030+149insGTTTTTTTTTTTTTTTTTTT (n.1030+148_1030+149insGTTTTTTTTTTTTTTTTTTT) c.*1218+148_*1218+149insGTTTTTTTTTTTTTTTTTTT (n.*1218+148_*1218+149insGTTTTTTTTTTTTTTTTTTT) c.880+148_880+149insGTTTTTTTTTTTTTTTTTTT (n.880+148_880+149insGTTTTTTTTTTTTTTTTTTT) c.*1068+148_*1068+149insGTTTTTTTTTTTTTTTTTTT (n.*1068+148_*1068+149insGTTTTTTTTTTTTTTTTTTT) c.*909+148_*909+149insGTTTTTTTTTTTTTTTTTTT (n.*909+148_*909+149insGTTTTTTTTTTTTTTTTTTT) c.*569+148_*569+149insGTTTTTTTTTTTTTTTTTTT (n.*569+148_*569+149insGTTTTTTTTTTTTTTTTTTT) c.1156+148_1156+149insGTTTTTTTTTTTTTTTTTTT (n.1156+148_1156+149insGTTTTTTTTTTTTTTTTTTT) c.*597+148_*597+149insGTTTTTTTTTTTTTTTTTTT (n.*597+148_*597+149insGTTTTTTTTTTTTTTTTTTT) n.1527+148_1527+149insGTTTTTTTTTTTTTTTTTTT n.2840+148_2840+149insGTTTTTTTTTTTTTTTTTTT n.340+148_340+149insGTTTTTTTTTTTTTTTTTTT n.2128+148_2128+149insGTTTTTTTTTTTTTTTTTTT n.1264+148_1264+149insGTTTTTTTTTTTTTTTTTTT c.1018+148_1018+149insGTTTTTTTTTTTTTTTTTTT (n.1018+148_1018+149insGTTTTTTTTTTTTTTTTTTT) c.853+148_853+149insGTTTTTTTTTTTTTTTTTTT (n.853+148_853+149insGTTTTTTTTTTTTTTTTTTT) c.1221+148_1221+149insGTTTTTTTTTTTTTTTTTTT (n.1221+148_1221+149insGTTTTTTTTTTTTTTTTTTT) c.1209+148_1209+149insGTTTTTTTTTTTTTTTTTTT (n.1209+148_1209+149insGTTTTTTTTTTTTTTTTTTT) n.494+148_494+149insGTTTTTTTTTTTTTTTTTTT c.956-5036_956-5035insGTTTTTTTTTTTTTTTTTTT (n.956-5036_956-5035insGTTTTTTTTTTTTTTTTTTT) | |
14 | g.73212091_73212092insGTTTTTTTT | CA2515878521 | PSEN1 | c.1117+149_1117+150insGTTTTTTTT (n.1117+149_1117+150insGTTTTTTTT) c.1129+149_1129+150insGTTTTTTTT (n.1129+149_1129+150insGTTTTTTTT) n.1879+149_1879+150insGTTTTTTTT c.*84+149_*84+150insGTTTTTTTT (n.*84+149_*84+150insGTTTTTTTT) n.1555+149_1555+150insGTTTTTTTT c.1009+149_1009+150insGTTTTTTTT (n.1009+149_1009+150insGTTTTTTTT) c.*1073+149_*1073+150insGTTTTTTTT (n.*1073+149_*1073+150insGTTTTTTTT) n.6679+149_6679+150insGTTTTTTTT c.*1341+149_*1341+150insGTTTTTTTT (n.*1341+149_*1341+150insGTTTTTTTT) c.944-5035_944-5034insGTTTTTTTT (n.944-5035_944-5034insGTTTTTTTT) c.1172+106_1172+107insGTTTTTTTT (n.1172+106_1172+107insGTTTTTTTT) c.*791+149_*791+150insGTTTTTTTT (n.*791+149_*791+150insGTTTTTTTT) c.*687+149_*687+150insGTTTTTTTT (n.*687+149_*687+150insGTTTTTTTT) c.1030+149_1030+150insGTTTTTTTT (n.1030+149_1030+150insGTTTTTTTT) c.*1218+149_*1218+150insGTTTTTTTT (n.*1218+149_*1218+150insGTTTTTTTT) c.880+149_880+150insGTTTTTTTT (n.880+149_880+150insGTTTTTTTT) c.*1068+149_*1068+150insGTTTTTTTT (n.*1068+149_*1068+150insGTTTTTTTT) c.*909+149_*909+150insGTTTTTTTT (n.*909+149_*909+150insGTTTTTTTT) c.*569+149_*569+150insGTTTTTTTT (n.*569+149_*569+150insGTTTTTTTT) c.1156+149_1156+150insGTTTTTTTT (n.1156+149_1156+150insGTTTTTTTT) c.*597+149_*597+150insGTTTTTTTT (n.*597+149_*597+150insGTTTTTTTT) n.1527+149_1527+150insGTTTTTTTT n.2840+149_2840+150insGTTTTTTTT n.340+149_340+150insGTTTTTTTT n.2128+149_2128+150insGTTTTTTTT n.1264+149_1264+150insGTTTTTTTT c.1018+149_1018+150insGTTTTTTTT (n.1018+149_1018+150insGTTTTTTTT) c.853+149_853+150insGTTTTTTTT (n.853+149_853+150insGTTTTTTTT) c.1221+149_1221+150insGTTTTTTTT (n.1221+149_1221+150insGTTTTTTTT) c.1209+149_1209+150insGTTTTTTTT (n.1209+149_1209+150insGTTTTTTTT) n.494+149_494+150insGTTTTTTTT c.956-5035_956-5034insGTTTTTTTT (n.956-5035_956-5034insGTTTTTTTT) | |
14 | g.73212091_73212092insGTTTTTTTTT | CA964614831 | PSEN1 | c.1117+149_1117+150insGTTTTTTTTT (n.1117+149_1117+150insGTTTTTTTTT) c.1129+149_1129+150insGTTTTTTTTT (n.1129+149_1129+150insGTTTTTTTTT) n.1879+149_1879+150insGTTTTTTTTT c.*84+149_*84+150insGTTTTTTTTT (n.*84+149_*84+150insGTTTTTTTTT) n.1555+149_1555+150insGTTTTTTTTT c.1009+149_1009+150insGTTTTTTTTT (n.1009+149_1009+150insGTTTTTTTTT) c.*1073+149_*1073+150insGTTTTTTTTT (n.*1073+149_*1073+150insGTTTTTTTTT) n.6679+149_6679+150insGTTTTTTTTT c.*1341+149_*1341+150insGTTTTTTTTT (n.*1341+149_*1341+150insGTTTTTTTTT) c.944-5035_944-5034insGTTTTTTTTT (n.944-5035_944-5034insGTTTTTTTTT) c.1172+106_1172+107insGTTTTTTTTT (n.1172+106_1172+107insGTTTTTTTTT) c.*791+149_*791+150insGTTTTTTTTT (n.*791+149_*791+150insGTTTTTTTTT) c.*687+149_*687+150insGTTTTTTTTT (n.*687+149_*687+150insGTTTTTTTTT) c.1030+149_1030+150insGTTTTTTTTT (n.1030+149_1030+150insGTTTTTTTTT) c.*1218+149_*1218+150insGTTTTTTTTT (n.*1218+149_*1218+150insGTTTTTTTTT) c.880+149_880+150insGTTTTTTTTT (n.880+149_880+150insGTTTTTTTTT) c.*1068+149_*1068+150insGTTTTTTTTT (n.*1068+149_*1068+150insGTTTTTTTTT) c.*909+149_*909+150insGTTTTTTTTT (n.*909+149_*909+150insGTTTTTTTTT) c.*569+149_*569+150insGTTTTTTTTT (n.*569+149_*569+150insGTTTTTTTTT) c.1156+149_1156+150insGTTTTTTTTT (n.1156+149_1156+150insGTTTTTTTTT) c.*597+149_*597+150insGTTTTTTTTT (n.*597+149_*597+150insGTTTTTTTTT) n.1527+149_1527+150insGTTTTTTTTT n.2840+149_2840+150insGTTTTTTTTT n.340+149_340+150insGTTTTTTTTT n.2128+149_2128+150insGTTTTTTTTT n.1264+149_1264+150insGTTTTTTTTT c.1018+149_1018+150insGTTTTTTTTT (n.1018+149_1018+150insGTTTTTTTTT) c.853+149_853+150insGTTTTTTTTT (n.853+149_853+150insGTTTTTTTTT) c.1221+149_1221+150insGTTTTTTTTT (n.1221+149_1221+150insGTTTTTTTTT) c.1209+149_1209+150insGTTTTTTTTT (n.1209+149_1209+150insGTTTTTTTTT) n.494+149_494+150insGTTTTTTTTT c.956-5035_956-5034insGTTTTTTTTT (n.956-5035_956-5034insGTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTT | CA964614828 | PSEN1 | c.1117+150_1117+151insCTTTTT (n.1117+150_1117+151insCTTTTT) c.1129+150_1129+151insCTTTTT (n.1129+150_1129+151insCTTTTT) n.1879+150_1879+151insCTTTTT c.*84+150_*84+151insCTTTTT (n.*84+150_*84+151insCTTTTT) n.1555+150_1555+151insCTTTTT c.1009+150_1009+151insCTTTTT (n.1009+150_1009+151insCTTTTT) c.*1073+150_*1073+151insCTTTTT (n.*1073+150_*1073+151insCTTTTT) n.6679+150_6679+151insCTTTTT c.*1341+150_*1341+151insCTTTTT (n.*1341+150_*1341+151insCTTTTT) c.944-5034_944-5033insCTTTTT (n.944-5034_944-5033insCTTTTT) c.1172+107_1172+108insCTTTTT (n.1172+107_1172+108insCTTTTT) c.*791+150_*791+151insCTTTTT (n.*791+150_*791+151insCTTTTT) c.*687+150_*687+151insCTTTTT (n.*687+150_*687+151insCTTTTT) c.1030+150_1030+151insCTTTTT (n.1030+150_1030+151insCTTTTT) c.*1218+150_*1218+151insCTTTTT (n.*1218+150_*1218+151insCTTTTT) c.880+150_880+151insCTTTTT (n.880+150_880+151insCTTTTT) c.*1068+150_*1068+151insCTTTTT (n.*1068+150_*1068+151insCTTTTT) c.*909+150_*909+151insCTTTTT (n.*909+150_*909+151insCTTTTT) c.*569+150_*569+151insCTTTTT (n.*569+150_*569+151insCTTTTT) c.1156+150_1156+151insCTTTTT (n.1156+150_1156+151insCTTTTT) c.*597+150_*597+151insCTTTTT (n.*597+150_*597+151insCTTTTT) n.1527+150_1527+151insCTTTTT n.2840+150_2840+151insCTTTTT n.340+150_340+151insCTTTTT n.2128+150_2128+151insCTTTTT n.1264+150_1264+151insCTTTTT c.1018+150_1018+151insCTTTTT (n.1018+150_1018+151insCTTTTT) c.853+150_853+151insCTTTTT (n.853+150_853+151insCTTTTT) c.1221+150_1221+151insCTTTTT (n.1221+150_1221+151insCTTTTT) c.1209+150_1209+151insCTTTTT (n.1209+150_1209+151insCTTTTT) n.494+150_494+151insCTTTTT c.956-5034_956-5033insCTTTTT (n.956-5034_956-5033insCTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTT | CA2570816678 | PSEN1 | c.1117+150_1117+151insCTTTTTTT (n.1117+150_1117+151insCTTTTTTT) c.1129+150_1129+151insCTTTTTTT (n.1129+150_1129+151insCTTTTTTT) n.1879+150_1879+151insCTTTTTTT c.*84+150_*84+151insCTTTTTTT (n.*84+150_*84+151insCTTTTTTT) n.1555+150_1555+151insCTTTTTTT c.1009+150_1009+151insCTTTTTTT (n.1009+150_1009+151insCTTTTTTT) c.*1073+150_*1073+151insCTTTTTTT (n.*1073+150_*1073+151insCTTTTTTT) n.6679+150_6679+151insCTTTTTTT c.*1341+150_*1341+151insCTTTTTTT (n.*1341+150_*1341+151insCTTTTTTT) c.944-5034_944-5033insCTTTTTTT (n.944-5034_944-5033insCTTTTTTT) c.1172+107_1172+108insCTTTTTTT (n.1172+107_1172+108insCTTTTTTT) c.*791+150_*791+151insCTTTTTTT (n.*791+150_*791+151insCTTTTTTT) c.*687+150_*687+151insCTTTTTTT (n.*687+150_*687+151insCTTTTTTT) c.1030+150_1030+151insCTTTTTTT (n.1030+150_1030+151insCTTTTTTT) c.*1218+150_*1218+151insCTTTTTTT (n.*1218+150_*1218+151insCTTTTTTT) c.880+150_880+151insCTTTTTTT (n.880+150_880+151insCTTTTTTT) c.*1068+150_*1068+151insCTTTTTTT (n.*1068+150_*1068+151insCTTTTTTT) c.*909+150_*909+151insCTTTTTTT (n.*909+150_*909+151insCTTTTTTT) c.*569+150_*569+151insCTTTTTTT (n.*569+150_*569+151insCTTTTTTT) c.1156+150_1156+151insCTTTTTTT (n.1156+150_1156+151insCTTTTTTT) c.*597+150_*597+151insCTTTTTTT (n.*597+150_*597+151insCTTTTTTT) n.1527+150_1527+151insCTTTTTTT n.2840+150_2840+151insCTTTTTTT n.340+150_340+151insCTTTTTTT n.2128+150_2128+151insCTTTTTTT n.1264+150_1264+151insCTTTTTTT c.1018+150_1018+151insCTTTTTTT (n.1018+150_1018+151insCTTTTTTT) c.853+150_853+151insCTTTTTTT (n.853+150_853+151insCTTTTTTT) c.1221+150_1221+151insCTTTTTTT (n.1221+150_1221+151insCTTTTTTT) c.1209+150_1209+151insCTTTTTTT (n.1209+150_1209+151insCTTTTTTT) n.494+150_494+151insCTTTTTTT c.956-5034_956-5033insCTTTTTTT (n.956-5034_956-5033insCTTTTTTT) | |
14 | g.73212092_73212093insCTTTTTTTT | CA964614799 | PSEN1 | c.1117+150_1117+151insCTTTTTTTT (n.1117+150_1117+151insCTTTTTTTT) c.1129+150_1129+151insCTTTTTTTT (n.1129+150_1129+151insCTTTTTTTT) n.1879+150_1879+151insCTTTTTTTT c.*84+150_*84+151insCTTTTTTTT (n.*84+150_*84+151insCTTTTTTTT) n.1555+150_1555+151insCTTTTTTTT c.1009+150_1009+151insCTTTTTTTT (n.1009+150_1009+151insCTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTT) n.6679+150_6679+151insCTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTT) c.944-5034_944-5033insCTTTTTTTT (n.944-5034_944-5033insCTTTTTTTT) c.1172+107_1172+108insCTTTTTTTT (n.1172+107_1172+108insCTTTTTTTT) c.*791+150_*791+151insCTTTTTTTT (n.*791+150_*791+151insCTTTTTTTT) c.*687+150_*687+151insCTTTTTTTT (n.*687+150_*687+151insCTTTTTTTT) c.1030+150_1030+151insCTTTTTTTT (n.1030+150_1030+151insCTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTT) c.880+150_880+151insCTTTTTTTT (n.880+150_880+151insCTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTT) c.*909+150_*909+151insCTTTTTTTT (n.*909+150_*909+151insCTTTTTTTT) c.*569+150_*569+151insCTTTTTTTT (n.*569+150_*569+151insCTTTTTTTT) c.1156+150_1156+151insCTTTTTTTT (n.1156+150_1156+151insCTTTTTTTT) c.*597+150_*597+151insCTTTTTTTT (n.*597+150_*597+151insCTTTTTTTT) n.1527+150_1527+151insCTTTTTTTT n.2840+150_2840+151insCTTTTTTTT n.340+150_340+151insCTTTTTTTT n.2128+150_2128+151insCTTTTTTTT n.1264+150_1264+151insCTTTTTTTT c.1018+150_1018+151insCTTTTTTTT (n.1018+150_1018+151insCTTTTTTTT) c.853+150_853+151insCTTTTTTTT (n.853+150_853+151insCTTTTTTTT) c.1221+150_1221+151insCTTTTTTTT (n.1221+150_1221+151insCTTTTTTTT) c.1209+150_1209+151insCTTTTTTTT (n.1209+150_1209+151insCTTTTTTTT) n.494+150_494+151insCTTTTTTTT c.956-5034_956-5033insCTTTTTTTT (n.956-5034_956-5033insCTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTT | CA964614822 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTT) c.880+150_880+151insCTTTTTTTTT (n.880+150_880+151insCTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTT n.340+150_340+151insCTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTT) c.853+150_853+151insCTTTTTTTTT (n.853+150_853+151insCTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTT) n.494+150_494+151insCTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTT | CA2802117550 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTT) | |
14 | g.73212092_73212093insCTTTTTTTTTTT | CA964614820 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTT | CA964614819 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insGTTTTTTTTTTTTTTTT | CA964614808 | PSEN1 | c.1117+150_1117+151insGTTTTTTTTTTTTTTTT (n.1117+150_1117+151insGTTTTTTTTTTTTTTTT) c.1129+150_1129+151insGTTTTTTTTTTTTTTTT (n.1129+150_1129+151insGTTTTTTTTTTTTTTTT) n.1879+150_1879+151insGTTTTTTTTTTTTTTTT c.*84+150_*84+151insGTTTTTTTTTTTTTTTT (n.*84+150_*84+151insGTTTTTTTTTTTTTTTT) n.1555+150_1555+151insGTTTTTTTTTTTTTTTT c.1009+150_1009+151insGTTTTTTTTTTTTTTTT (n.1009+150_1009+151insGTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insGTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insGTTTTTTTTTTTTTTTT) n.6679+150_6679+151insGTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insGTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insGTTTTTTTTTTTTTTTT) c.944-5034_944-5033insGTTTTTTTTTTTTTTTT (n.944-5034_944-5033insGTTTTTTTTTTTTTTTT) c.1172+107_1172+108insGTTTTTTTTTTTTTTTT (n.1172+107_1172+108insGTTTTTTTTTTTTTTTT) c.*791+150_*791+151insGTTTTTTTTTTTTTTTT (n.*791+150_*791+151insGTTTTTTTTTTTTTTTT) c.*687+150_*687+151insGTTTTTTTTTTTTTTTT (n.*687+150_*687+151insGTTTTTTTTTTTTTTTT) c.1030+150_1030+151insGTTTTTTTTTTTTTTTT (n.1030+150_1030+151insGTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insGTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insGTTTTTTTTTTTTTTTT) c.880+150_880+151insGTTTTTTTTTTTTTTTT (n.880+150_880+151insGTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insGTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insGTTTTTTTTTTTTTTTT) c.*909+150_*909+151insGTTTTTTTTTTTTTTTT (n.*909+150_*909+151insGTTTTTTTTTTTTTTTT) c.*569+150_*569+151insGTTTTTTTTTTTTTTTT (n.*569+150_*569+151insGTTTTTTTTTTTTTTTT) c.1156+150_1156+151insGTTTTTTTTTTTTTTTT (n.1156+150_1156+151insGTTTTTTTTTTTTTTTT) c.*597+150_*597+151insGTTTTTTTTTTTTTTTT (n.*597+150_*597+151insGTTTTTTTTTTTTTTTT) n.1527+150_1527+151insGTTTTTTTTTTTTTTTT n.2840+150_2840+151insGTTTTTTTTTTTTTTTT n.340+150_340+151insGTTTTTTTTTTTTTTTT n.2128+150_2128+151insGTTTTTTTTTTTTTTTT n.1264+150_1264+151insGTTTTTTTTTTTTTTTT c.1018+150_1018+151insGTTTTTTTTTTTTTTTT (n.1018+150_1018+151insGTTTTTTTTTTTTTTTT) c.853+150_853+151insGTTTTTTTTTTTTTTTT (n.853+150_853+151insGTTTTTTTTTTTTTTTT) c.1221+150_1221+151insGTTTTTTTTTTTTTTTT (n.1221+150_1221+151insGTTTTTTTTTTTTTTTT) c.1209+150_1209+151insGTTTTTTTTTTTTTTTT (n.1209+150_1209+151insGTTTTTTTTTTTTTTTT) n.494+150_494+151insGTTTTTTTTTTTTTTTT c.956-5034_956-5033insGTTTTTTTTTTTTTTTT (n.956-5034_956-5033insGTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTT | CA964614815 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTTTTTTTT | CA964614814 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614812 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614811 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614810 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614809 | PSEN1 | c.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+150_1117+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+150_1129+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+150_1879+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+150_*84+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+150_1555+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+150_1009+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+150_*1073+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+150_6679+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+150_*1341+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5034_944-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+107_1172+108insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+150_*791+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+150_*687+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+150_1030+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+150_*1218+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+150_880+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+150_*1068+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+150_*909+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+150_*569+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+150_1156+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+150_*597+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+150_1527+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+150_2840+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+150_340+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+150_2128+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+150_1264+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+150_1018+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+150_853+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+150_1221+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+150_1209+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+150_494+151insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5034_956-5033insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212093_73212094insGTTTTTTTT | CA964614804 | PSEN1 | c.1117+151_1117+152insGTTTTTTTT (n.1117+151_1117+152insGTTTTTTTT) c.1129+151_1129+152insGTTTTTTTT (n.1129+151_1129+152insGTTTTTTTT) n.1879+151_1879+152insGTTTTTTTT c.*84+151_*84+152insGTTTTTTTT (n.*84+151_*84+152insGTTTTTTTT) n.1555+151_1555+152insGTTTTTTTT c.1009+151_1009+152insGTTTTTTTT (n.1009+151_1009+152insGTTTTTTTT) c.*1073+151_*1073+152insGTTTTTTTT (n.*1073+151_*1073+152insGTTTTTTTT) n.6679+151_6679+152insGTTTTTTTT c.*1341+151_*1341+152insGTTTTTTTT (n.*1341+151_*1341+152insGTTTTTTTT) c.944-5033_944-5032insGTTTTTTTT (n.944-5033_944-5032insGTTTTTTTT) c.1172+108_1172+109insGTTTTTTTT (n.1172+108_1172+109insGTTTTTTTT) c.*791+151_*791+152insGTTTTTTTT (n.*791+151_*791+152insGTTTTTTTT) c.*687+151_*687+152insGTTTTTTTT (n.*687+151_*687+152insGTTTTTTTT) c.1030+151_1030+152insGTTTTTTTT (n.1030+151_1030+152insGTTTTTTTT) c.*1218+151_*1218+152insGTTTTTTTT (n.*1218+151_*1218+152insGTTTTTTTT) c.880+151_880+152insGTTTTTTTT (n.880+151_880+152insGTTTTTTTT) c.*1068+151_*1068+152insGTTTTTTTT (n.*1068+151_*1068+152insGTTTTTTTT) c.*909+151_*909+152insGTTTTTTTT (n.*909+151_*909+152insGTTTTTTTT) c.*569+151_*569+152insGTTTTTTTT (n.*569+151_*569+152insGTTTTTTTT) c.1156+151_1156+152insGTTTTTTTT (n.1156+151_1156+152insGTTTTTTTT) c.*597+151_*597+152insGTTTTTTTT (n.*597+151_*597+152insGTTTTTTTT) n.1527+151_1527+152insGTTTTTTTT n.2840+151_2840+152insGTTTTTTTT n.340+151_340+152insGTTTTTTTT n.2128+151_2128+152insGTTTTTTTT n.1264+151_1264+152insGTTTTTTTT c.1018+151_1018+152insGTTTTTTTT (n.1018+151_1018+152insGTTTTTTTT) c.853+151_853+152insGTTTTTTTT (n.853+151_853+152insGTTTTTTTT) c.1221+151_1221+152insGTTTTTTTT (n.1221+151_1221+152insGTTTTTTTT) c.1209+151_1209+152insGTTTTTTTT (n.1209+151_1209+152insGTTTTTTTT) n.494+151_494+152insGTTTTTTTT c.956-5033_956-5032insGTTTTTTTT (n.956-5033_956-5032insGTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212096_73212097insATTTTTTTTTTTT | CA964614912 | PSEN1 | c.1117+154_1117+155insATTTTTTTTTTTT (n.1117+154_1117+155insATTTTTTTTTTTT) c.1129+154_1129+155insATTTTTTTTTTTT (n.1129+154_1129+155insATTTTTTTTTTTT) n.1879+154_1879+155insATTTTTTTTTTTT c.*84+154_*84+155insATTTTTTTTTTTT (n.*84+154_*84+155insATTTTTTTTTTTT) n.1555+154_1555+155insATTTTTTTTTTTT c.1009+154_1009+155insATTTTTTTTTTTT (n.1009+154_1009+155insATTTTTTTTTTTT) c.*1073+154_*1073+155insATTTTTTTTTTTT (n.*1073+154_*1073+155insATTTTTTTTTTTT) n.6679+154_6679+155insATTTTTTTTTTTT c.*1341+154_*1341+155insATTTTTTTTTTTT (n.*1341+154_*1341+155insATTTTTTTTTTTT) c.944-5030_944-5029insATTTTTTTTTTTT (n.944-5030_944-5029insATTTTTTTTTTTT) c.1172+111_1172+112insATTTTTTTTTTTT (n.1172+111_1172+112insATTTTTTTTTTTT) c.*791+154_*791+155insATTTTTTTTTTTT (n.*791+154_*791+155insATTTTTTTTTTTT) c.*687+154_*687+155insATTTTTTTTTTTT (n.*687+154_*687+155insATTTTTTTTTTTT) c.1030+154_1030+155insATTTTTTTTTTTT (n.1030+154_1030+155insATTTTTTTTTTTT) c.*1218+154_*1218+155insATTTTTTTTTTTT (n.*1218+154_*1218+155insATTTTTTTTTTTT) c.880+154_880+155insATTTTTTTTTTTT (n.880+154_880+155insATTTTTTTTTTTT) c.*1068+154_*1068+155insATTTTTTTTTTTT (n.*1068+154_*1068+155insATTTTTTTTTTTT) c.*909+154_*909+155insATTTTTTTTTTTT (n.*909+154_*909+155insATTTTTTTTTTTT) c.*569+154_*569+155insATTTTTTTTTTTT (n.*569+154_*569+155insATTTTTTTTTTTT) c.1156+154_1156+155insATTTTTTTTTTTT (n.1156+154_1156+155insATTTTTTTTTTTT) c.*597+154_*597+155insATTTTTTTTTTTT (n.*597+154_*597+155insATTTTTTTTTTTT) n.1527+154_1527+155insATTTTTTTTTTTT n.2840+154_2840+155insATTTTTTTTTTTT n.340+154_340+155insATTTTTTTTTTTT n.2128+154_2128+155insATTTTTTTTTTTT n.1264+154_1264+155insATTTTTTTTTTTT c.1018+154_1018+155insATTTTTTTTTTTT (n.1018+154_1018+155insATTTTTTTTTTTT) c.853+154_853+155insATTTTTTTTTTTT (n.853+154_853+155insATTTTTTTTTTTT) c.1221+154_1221+155insATTTTTTTTTTTT (n.1221+154_1221+155insATTTTTTTTTTTT) c.1209+154_1209+155insATTTTTTTTTTTT (n.1209+154_1209+155insATTTTTTTTTTTT) n.494+154_494+155insATTTTTTTTTTTT c.956-5030_956-5029insATTTTTTTTTTTT (n.956-5030_956-5029insATTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212100_73212101insGTTTTTTTTTTTTTTTTTTT | CA964614927 | PSEN1 | c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT (n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTT) c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT (n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTT) n.1879+158_1879+159insGTTTTTTTTTTTTTTTTTTT c.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT (n.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTT) n.1555+158_1555+159insGTTTTTTTTTTTTTTTTTTT c.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTT (n.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTT) c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT (n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTT) n.6679+158_6679+159insGTTTTTTTTTTTTTTTTTTT c.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTTT (n.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTTT) c.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTT (n.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTT) c.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT (n.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTT) c.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT (n.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTT) c.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT (n.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTT) c.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTT (n.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTT) c.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTTT (n.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTTT) c.880+158_880+159insGTTTTTTTTTTTTTTTTTTT (n.880+158_880+159insGTTTTTTTTTTTTTTTTTTT) c.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTTT (n.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTTT) c.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTT (n.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTT) c.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTT (n.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTT) c.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTT (n.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTT) c.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTT (n.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTT) n.1527+158_1527+159insGTTTTTTTTTTTTTTTTTTT n.2840+158_2840+159insGTTTTTTTTTTTTTTTTTTT n.340+158_340+159insGTTTTTTTTTTTTTTTTTTT n.2128+158_2128+159insGTTTTTTTTTTTTTTTTTTT n.1264+158_1264+159insGTTTTTTTTTTTTTTTTTTT c.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTT (n.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTT) c.853+158_853+159insGTTTTTTTTTTTTTTTTTTT (n.853+158_853+159insGTTTTTTTTTTTTTTTTTTT) c.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTT (n.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTT) c.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTT (n.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTT) n.494+158_494+159insGTTTTTTTTTTTTTTTTTTT c.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTT (n.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212100_73212101insGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2625561448 | PSEN1 | c.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+158_1117+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+158_1129+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+158_1879+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+158_*84+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+158_1555+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+158_1009+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+158_*1073+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+158_6679+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+158_*1341+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5026_944-5025insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+115_1172+116insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+158_*791+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+158_*687+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+158_1030+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+158_*1218+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+158_880+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+158_880+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+158_*1068+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+158_*909+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+158_*569+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+158_1156+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+158_*597+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+158_1527+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+158_2840+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+158_340+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+158_2128+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+158_1264+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+158_1018+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+158_853+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+158_853+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+158_1221+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+158_1209+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+158_494+159insGTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5026_956-5025insGTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
14 | g.73212105_73212106insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614941 | PSEN1 | c.1117+163_1117+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+163_1117+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+163_1129+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+163_1129+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+163_1879+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+163_*84+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+163_*84+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+163_1555+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+163_1009+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+163_1009+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+163_*1073+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+163_*1073+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+163_6679+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+163_*1341+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+163_*1341+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5021_944-5020insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5021_944-5020insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+120_1172+121insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+120_1172+121insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+163_*791+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+163_*791+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+163_*687+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+163_*687+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+163_1030+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+163_1030+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+163_*1218+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+163_*1218+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+163_880+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+163_880+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+163_*1068+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+163_*1068+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+163_*909+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+163_*909+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+163_*569+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+163_*569+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+163_1156+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+163_1156+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+163_*597+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+163_*597+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+163_1527+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+163_2840+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+163_340+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+163_2128+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+163_1264+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+163_1018+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+163_1018+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+163_853+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+163_853+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+163_1221+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+163_1221+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+163_1209+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+163_1209+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+163_494+164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5021_956-5020insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5021_956-5020insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212106_73212107insGTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614902 | PSEN1 | c.1117+164_1117+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+164_1117+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+164_1129+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+164_1129+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+164_1879+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+164_*84+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+164_*84+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+164_1555+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+164_1009+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+164_1009+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+164_*1073+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+164_*1073+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+164_6679+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+164_*1341+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+164_*1341+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5020_944-5019insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5020_944-5019insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+121_1172+122insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+121_1172+122insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+164_*791+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+164_*791+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+164_*687+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+164_*687+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+164_1030+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+164_1030+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+164_*1218+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+164_*1218+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+164_880+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+164_880+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+164_*1068+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+164_*1068+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+164_*909+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+164_*909+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+164_*569+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+164_*569+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+164_1156+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+164_1156+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+164_*597+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+164_*597+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+164_1527+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+164_2840+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+164_340+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+164_2128+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+164_1264+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+164_1018+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+164_1018+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+164_853+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+164_853+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+164_1221+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+164_1221+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+164_1209+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+164_1209+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+164_494+165insGTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5020_956-5019insGTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5020_956-5019insGTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212109_73212110insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614894 | PSEN1 | c.1117+167_1117+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+167_1117+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+167_1129+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+167_1129+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+167_1879+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+167_*84+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+167_*84+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+167_1555+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+167_1009+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+167_1009+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+167_*1073+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+167_*1073+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+167_6679+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+167_*1341+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+167_*1341+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5017_944-5016insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5017_944-5016insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+124_1172+125insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+124_1172+125insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+167_*791+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+167_*791+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+167_*687+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+167_*687+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+167_1030+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+167_1030+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+167_*1218+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+167_*1218+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+167_880+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+167_880+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+167_*1068+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+167_*1068+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+167_*909+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+167_*909+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+167_*569+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+167_*569+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+167_1156+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+167_1156+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+167_*597+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+167_*597+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+167_1527+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+167_2840+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+167_340+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+167_2128+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+167_1264+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+167_1018+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+167_1018+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+167_853+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+167_853+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+167_1221+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+167_1221+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+167_1209+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+167_1209+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+167_494+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5017_956-5016insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5017_956-5016insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212111_73212112insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614881 | PSEN1 | c.1117+169_1117+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+169_1117+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+169_1129+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+169_1129+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+169_1879+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+169_*84+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+169_*84+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+169_1555+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+169_1009+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+169_1009+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+169_*1073+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+169_*1073+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+169_6679+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+169_*1341+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+169_*1341+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5015_944-5014insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5015_944-5014insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+126_1172+127insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+126_1172+127insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+169_*791+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+169_*791+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+169_*687+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+169_*687+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+169_1030+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+169_1030+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+169_*1218+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+169_*1218+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+169_880+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+169_880+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+169_*1068+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+169_*1068+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+169_*909+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+169_*909+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+169_*569+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+169_*569+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+169_1156+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+169_1156+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+169_*597+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+169_*597+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+169_1527+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+169_2840+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+169_340+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+169_2128+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+169_1264+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+169_1018+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+169_1018+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+169_853+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+169_853+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+169_1221+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+169_1221+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+169_1209+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+169_1209+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+169_494+170insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5015_956-5014insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5015_956-5014insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212114_73212115insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614824 | PSEN1 | c.1117+172_1117+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+172_1117+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+172_1129+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+172_1129+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+172_1879+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+172_*84+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+172_*84+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+172_1555+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+172_1009+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+172_1009+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+172_*1073+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+172_*1073+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+172_6679+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+172_*1341+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+172_*1341+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5012_944-5011insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5012_944-5011insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+129_1172+130insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+129_1172+130insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+172_*791+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+172_*791+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+172_*687+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+172_*687+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+172_1030+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+172_1030+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+172_*1218+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+172_*1218+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+172_880+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+172_880+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+172_*1068+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+172_*1068+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+172_*909+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+172_*909+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+172_*569+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+172_*569+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+172_1156+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+172_1156+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+172_*597+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+172_*597+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+172_1527+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+172_2840+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+172_340+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+172_2128+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+172_1264+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+172_1018+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+172_1018+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+172_853+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+172_853+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+172_1221+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+172_1221+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+172_1209+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+172_1209+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+172_494+173insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5012_956-5011insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5012_956-5011insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212116_73212117insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2625561459 | PSEN1 | c.1117+174_1117+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+174_1117+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+174_1129+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+174_1129+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+174_1879+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+174_*84+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+174_*84+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+174_1555+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+174_1009+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+174_1009+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+174_*1073+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+174_*1073+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+174_6679+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+174_*1341+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+174_*1341+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5010_944-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5010_944-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+131_1172+132insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+131_1172+132insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+174_*791+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+174_*791+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+174_*687+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+174_*687+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+174_1030+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+174_1030+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+174_*1218+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+174_*1218+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+174_880+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+174_880+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+174_*1068+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+174_*1068+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+174_*909+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+174_*909+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+174_*569+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+174_*569+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+174_1156+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+174_1156+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+174_*597+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+174_*597+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+174_1527+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+174_2840+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+174_340+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+174_2128+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+174_1264+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+174_1018+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+174_1018+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+174_853+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+174_853+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+174_1221+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+174_1221+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+174_1209+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+174_1209+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+174_494+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5010_956-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5010_956-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
14 | g.73212116_73212117insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2532618666 | PSEN1 | c.1117+174_1117+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+174_1117+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+174_1129+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+174_1129+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+174_1879+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+174_*84+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+174_*84+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+174_1555+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+174_1009+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+174_1009+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+174_*1073+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+174_*1073+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+174_6679+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+174_*1341+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+174_*1341+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5010_944-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5010_944-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+131_1172+132insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+131_1172+132insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+174_*791+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+174_*791+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+174_*687+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+174_*687+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+174_1030+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+174_1030+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+174_*1218+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+174_*1218+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+174_880+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+174_880+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+174_*1068+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+174_*1068+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+174_*909+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+174_*909+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+174_*569+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+174_*569+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+174_1156+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+174_1156+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+174_*597+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+174_*597+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+174_1527+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+174_2840+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+174_340+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+174_2128+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+174_1264+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+174_1018+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+174_1018+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+174_853+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+174_853+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+174_1221+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+174_1221+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+174_1209+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+174_1209+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+174_494+175insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5010_956-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5010_956-5009insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
14 | g.73212117_73212118insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614774 | PSEN1 | c.1117+175_1117+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+175_1117+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+175_1129+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+175_1129+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+175_1879+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+175_*84+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+175_*84+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+175_1555+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+175_1009+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+175_1009+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+175_*1073+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+175_*1073+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+175_6679+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+175_*1341+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+175_*1341+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5009_944-5008insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5009_944-5008insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+132_1172+133insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+132_1172+133insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+175_*791+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+175_*791+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+175_*687+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+175_*687+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+175_1030+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+175_1030+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+175_*1218+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+175_*1218+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+175_880+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+175_880+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+175_*1068+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+175_*1068+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+175_*909+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+175_*909+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+175_*569+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+175_*569+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+175_1156+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+175_1156+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+175_*597+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+175_*597+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+175_1527+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+175_2840+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+175_340+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+175_2128+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+175_1264+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+175_1018+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+175_1018+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+175_853+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+175_853+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+175_1221+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+175_1221+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+175_1209+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+175_1209+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+175_494+176insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5009_956-5008insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5009_956-5008insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212121_73212122insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2802117592 | PSEN1 | c.1117+179_1117+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+179_1117+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+179_1129+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+179_1129+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+179_1879+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+179_*84+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+179_*84+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+179_1555+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+179_1009+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+179_1009+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+179_*1073+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+179_*1073+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+179_6679+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+179_*1341+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+179_*1341+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5005_944-5004insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5005_944-5004insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+136_1172+137insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+136_1172+137insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+179_*791+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+179_*791+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+179_*687+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+179_*687+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+179_1030+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+179_1030+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+179_*1218+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+179_*1218+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+179_880+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+179_880+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+179_*1068+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+179_*1068+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+179_*909+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+179_*909+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+179_*569+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+179_*569+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+179_1156+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+179_1156+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+179_*597+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+179_*597+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+179_1527+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+179_2840+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+179_340+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+179_2128+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+179_1264+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+179_1018+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+179_1018+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+179_853+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+179_853+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+179_1221+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+179_1221+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+179_1209+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+179_1209+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+179_494+180insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5005_956-5004insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5005_956-5004insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
14 | g.73212126_73212127insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614706 | PSEN1 | c.1117+184_1117+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+184_1117+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+184_1129+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+184_1129+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+184_1879+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+184_*84+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+184_*84+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+184_1555+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+184_1009+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+184_1009+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+184_*1073+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+184_*1073+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+184_6679+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+184_*1341+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+184_*1341+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-5000_944-4999insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-5000_944-4999insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+141_1172+142insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+141_1172+142insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+184_*791+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+184_*791+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+184_*687+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+184_*687+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+184_1030+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+184_1030+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+184_*1218+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+184_*1218+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+184_880+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+184_880+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+184_*1068+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+184_*1068+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+184_*909+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+184_*909+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+184_*569+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+184_*569+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+184_1156+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+184_1156+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+184_*597+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+184_*597+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+184_1527+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+184_2840+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+184_340+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+184_2128+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+184_1264+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+184_1018+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+184_1018+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+184_853+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+184_853+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+184_1221+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+184_1221+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+184_1209+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+184_1209+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+184_494+185insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-5000_956-4999insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-5000_956-4999insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614671 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614672 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614675 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614676 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614677 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614681 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614683 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614686 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212129dup | CA964614840 | PSEN1 | c.1117+187dup (n.1117+187dup) c.1129+187dup (n.1129+187dup) n.1879+187dup c.*84+187dup (n.*84+187dup) n.1555+187dup c.1009+187dup (n.1009+187dup) c.*1073+187dup (n.*1073+187dup) n.6679+187dup c.*1341+187dup (n.*1341+187dup) c.944-4997dup (n.944-4997dup) c.1172+144dup (n.1172+144dup) c.*791+187dup (n.*791+187dup) c.*687+187dup (n.*687+187dup) c.1030+187dup (n.1030+187dup) c.*1218+187dup (n.*1218+187dup) c.880+187dup (n.880+187dup) c.*1068+187dup (n.*1068+187dup) c.*909+187dup (n.*909+187dup) c.*569+187dup (n.*569+187dup) c.1156+187dup (n.1156+187dup) c.*597+187dup (n.*597+187dup) n.1527+187dup n.2840+187dup n.340+187dup n.2128+187dup n.1264+187dup c.1018+187dup (n.1018+187dup) c.853+187dup (n.853+187dup) c.1221+187dup (n.1221+187dup) c.1209+187dup (n.1209+187dup) n.494+187dup c.956-4997dup (n.956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212128_73212129dup | CA919449607 | PSEN1 | c.1117+186_1117+187dup (n.1117+186_1117+187dup) c.1129+186_1129+187dup (n.1129+186_1129+187dup) n.1879+186_1879+187dup c.*84+186_*84+187dup (n.*84+186_*84+187dup) n.1555+186_1555+187dup c.1009+186_1009+187dup (n.1009+186_1009+187dup) c.*1073+186_*1073+187dup (n.*1073+186_*1073+187dup) n.6679+186_6679+187dup c.*1341+186_*1341+187dup (n.*1341+186_*1341+187dup) c.944-4998_944-4997dup (n.944-4998_944-4997dup) c.1172+143_1172+144dup (n.1172+143_1172+144dup) c.*791+186_*791+187dup (n.*791+186_*791+187dup) c.*687+186_*687+187dup (n.*687+186_*687+187dup) c.1030+186_1030+187dup (n.1030+186_1030+187dup) c.*1218+186_*1218+187dup (n.*1218+186_*1218+187dup) c.880+186_880+187dup (n.880+186_880+187dup) c.*1068+186_*1068+187dup (n.*1068+186_*1068+187dup) c.*909+186_*909+187dup (n.*909+186_*909+187dup) c.*569+186_*569+187dup (n.*569+186_*569+187dup) c.1156+186_1156+187dup (n.1156+186_1156+187dup) c.*597+186_*597+187dup (n.*597+186_*597+187dup) n.1527+186_1527+187dup n.2840+186_2840+187dup n.340+186_340+187dup n.2128+186_2128+187dup n.1264+186_1264+187dup c.1018+186_1018+187dup (n.1018+186_1018+187dup) c.853+186_853+187dup (n.853+186_853+187dup) c.1221+186_1221+187dup (n.1221+186_1221+187dup) c.1209+186_1209+187dup (n.1209+186_1209+187dup) n.494+186_494+187dup c.956-4998_956-4997dup (n.956-4998_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212127_73212129dup | CA964614832 | PSEN1 | c.1117+185_1117+187dup (n.1117+185_1117+187dup) c.1129+185_1129+187dup (n.1129+185_1129+187dup) n.1879+185_1879+187dup c.*84+185_*84+187dup (n.*84+185_*84+187dup) n.1555+185_1555+187dup c.1009+185_1009+187dup (n.1009+185_1009+187dup) c.*1073+185_*1073+187dup (n.*1073+185_*1073+187dup) n.6679+185_6679+187dup c.*1341+185_*1341+187dup (n.*1341+185_*1341+187dup) c.944-4999_944-4997dup (n.944-4999_944-4997dup) c.1172+142_1172+144dup (n.1172+142_1172+144dup) c.*791+185_*791+187dup (n.*791+185_*791+187dup) c.*687+185_*687+187dup (n.*687+185_*687+187dup) c.1030+185_1030+187dup (n.1030+185_1030+187dup) c.*1218+185_*1218+187dup (n.*1218+185_*1218+187dup) c.880+185_880+187dup (n.880+185_880+187dup) c.*1068+185_*1068+187dup (n.*1068+185_*1068+187dup) c.*909+185_*909+187dup (n.*909+185_*909+187dup) c.*569+185_*569+187dup (n.*569+185_*569+187dup) c.1156+185_1156+187dup (n.1156+185_1156+187dup) c.*597+185_*597+187dup (n.*597+185_*597+187dup) n.1527+185_1527+187dup n.2840+185_2840+187dup n.340+185_340+187dup n.2128+185_2128+187dup n.1264+185_1264+187dup c.1018+185_1018+187dup (n.1018+185_1018+187dup) c.853+185_853+187dup (n.853+185_853+187dup) c.1221+185_1221+187dup (n.1221+185_1221+187dup) c.1209+185_1209+187dup (n.1209+185_1209+187dup) n.494+185_494+187dup c.956-4999_956-4997dup (n.956-4999_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212126_73212129dup | CA964614830 | PSEN1 | c.1117+184_1117+187dup (n.1117+184_1117+187dup) c.1129+184_1129+187dup (n.1129+184_1129+187dup) n.1879+184_1879+187dup c.*84+184_*84+187dup (n.*84+184_*84+187dup) n.1555+184_1555+187dup c.1009+184_1009+187dup (n.1009+184_1009+187dup) c.*1073+184_*1073+187dup (n.*1073+184_*1073+187dup) n.6679+184_6679+187dup c.*1341+184_*1341+187dup (n.*1341+184_*1341+187dup) c.944-5000_944-4997dup (n.944-5000_944-4997dup) c.1172+141_1172+144dup (n.1172+141_1172+144dup) c.*791+184_*791+187dup (n.*791+184_*791+187dup) c.*687+184_*687+187dup (n.*687+184_*687+187dup) c.1030+184_1030+187dup (n.1030+184_1030+187dup) c.*1218+184_*1218+187dup (n.*1218+184_*1218+187dup) c.880+184_880+187dup (n.880+184_880+187dup) c.*1068+184_*1068+187dup (n.*1068+184_*1068+187dup) c.*909+184_*909+187dup (n.*909+184_*909+187dup) c.*569+184_*569+187dup (n.*569+184_*569+187dup) c.1156+184_1156+187dup (n.1156+184_1156+187dup) c.*597+184_*597+187dup (n.*597+184_*597+187dup) n.1527+184_1527+187dup n.2840+184_2840+187dup n.340+184_340+187dup n.2128+184_2128+187dup n.1264+184_1264+187dup c.1018+184_1018+187dup (n.1018+184_1018+187dup) c.853+184_853+187dup (n.853+184_853+187dup) c.1221+184_1221+187dup (n.1221+184_1221+187dup) c.1209+184_1209+187dup (n.1209+184_1209+187dup) n.494+184_494+187dup c.956-5000_956-4997dup (n.956-5000_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212125_73212129dup | CA964614807 | PSEN1 | c.1117+183_1117+187dup (n.1117+183_1117+187dup) c.1129+183_1129+187dup (n.1129+183_1129+187dup) n.1879+183_1879+187dup c.*84+183_*84+187dup (n.*84+183_*84+187dup) n.1555+183_1555+187dup c.1009+183_1009+187dup (n.1009+183_1009+187dup) c.*1073+183_*1073+187dup (n.*1073+183_*1073+187dup) n.6679+183_6679+187dup c.*1341+183_*1341+187dup (n.*1341+183_*1341+187dup) c.944-5001_944-4997dup (n.944-5001_944-4997dup) c.1172+140_1172+144dup (n.1172+140_1172+144dup) c.*791+183_*791+187dup (n.*791+183_*791+187dup) c.*687+183_*687+187dup (n.*687+183_*687+187dup) c.1030+183_1030+187dup (n.1030+183_1030+187dup) c.*1218+183_*1218+187dup (n.*1218+183_*1218+187dup) c.880+183_880+187dup (n.880+183_880+187dup) c.*1068+183_*1068+187dup (n.*1068+183_*1068+187dup) c.*909+183_*909+187dup (n.*909+183_*909+187dup) c.*569+183_*569+187dup (n.*569+183_*569+187dup) c.1156+183_1156+187dup (n.1156+183_1156+187dup) c.*597+183_*597+187dup (n.*597+183_*597+187dup) n.1527+183_1527+187dup n.2840+183_2840+187dup n.340+183_340+187dup n.2128+183_2128+187dup n.1264+183_1264+187dup c.1018+183_1018+187dup (n.1018+183_1018+187dup) c.853+183_853+187dup (n.853+183_853+187dup) c.1221+183_1221+187dup (n.1221+183_1221+187dup) c.1209+183_1209+187dup (n.1209+183_1209+187dup) n.494+183_494+187dup c.956-5001_956-4997dup (n.956-5001_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212124_73212129dup | CA964614801 | PSEN1 | c.1117+182_1117+187dup (n.1117+182_1117+187dup) c.1129+182_1129+187dup (n.1129+182_1129+187dup) n.1879+182_1879+187dup c.*84+182_*84+187dup (n.*84+182_*84+187dup) n.1555+182_1555+187dup c.1009+182_1009+187dup (n.1009+182_1009+187dup) c.*1073+182_*1073+187dup (n.*1073+182_*1073+187dup) n.6679+182_6679+187dup c.*1341+182_*1341+187dup (n.*1341+182_*1341+187dup) c.944-5002_944-4997dup (n.944-5002_944-4997dup) c.1172+139_1172+144dup (n.1172+139_1172+144dup) c.*791+182_*791+187dup (n.*791+182_*791+187dup) c.*687+182_*687+187dup (n.*687+182_*687+187dup) c.1030+182_1030+187dup (n.1030+182_1030+187dup) c.*1218+182_*1218+187dup (n.*1218+182_*1218+187dup) c.880+182_880+187dup (n.880+182_880+187dup) c.*1068+182_*1068+187dup (n.*1068+182_*1068+187dup) c.*909+182_*909+187dup (n.*909+182_*909+187dup) c.*569+182_*569+187dup (n.*569+182_*569+187dup) c.1156+182_1156+187dup (n.1156+182_1156+187dup) c.*597+182_*597+187dup (n.*597+182_*597+187dup) n.1527+182_1527+187dup n.2840+182_2840+187dup n.340+182_340+187dup n.2128+182_2128+187dup n.1264+182_1264+187dup c.1018+182_1018+187dup (n.1018+182_1018+187dup) c.853+182_853+187dup (n.853+182_853+187dup) c.1221+182_1221+187dup (n.1221+182_1221+187dup) c.1209+182_1209+187dup (n.1209+182_1209+187dup) n.494+182_494+187dup c.956-5002_956-4997dup (n.956-5002_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212123_73212129dup | CA964614907 | PSEN1 | c.1117+181_1117+187dup (n.1117+181_1117+187dup) c.1129+181_1129+187dup (n.1129+181_1129+187dup) n.1879+181_1879+187dup c.*84+181_*84+187dup (n.*84+181_*84+187dup) n.1555+181_1555+187dup c.1009+181_1009+187dup (n.1009+181_1009+187dup) c.*1073+181_*1073+187dup (n.*1073+181_*1073+187dup) n.6679+181_6679+187dup c.*1341+181_*1341+187dup (n.*1341+181_*1341+187dup) c.944-5003_944-4997dup (n.944-5003_944-4997dup) c.1172+138_1172+144dup (n.1172+138_1172+144dup) c.*791+181_*791+187dup (n.*791+181_*791+187dup) c.*687+181_*687+187dup (n.*687+181_*687+187dup) c.1030+181_1030+187dup (n.1030+181_1030+187dup) c.*1218+181_*1218+187dup (n.*1218+181_*1218+187dup) c.880+181_880+187dup (n.880+181_880+187dup) c.*1068+181_*1068+187dup (n.*1068+181_*1068+187dup) c.*909+181_*909+187dup (n.*909+181_*909+187dup) c.*569+181_*569+187dup (n.*569+181_*569+187dup) c.1156+181_1156+187dup (n.1156+181_1156+187dup) c.*597+181_*597+187dup (n.*597+181_*597+187dup) n.1527+181_1527+187dup n.2840+181_2840+187dup n.340+181_340+187dup n.2128+181_2128+187dup n.1264+181_1264+187dup c.1018+181_1018+187dup (n.1018+181_1018+187dup) c.853+181_853+187dup (n.853+181_853+187dup) c.1221+181_1221+187dup (n.1221+181_1221+187dup) c.1209+181_1209+187dup (n.1209+181_1209+187dup) n.494+181_494+187dup c.956-5003_956-4997dup (n.956-5003_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212122_73212129dup | CA964614856 | PSEN1 | c.1117+180_1117+187dup (n.1117+180_1117+187dup) c.1129+180_1129+187dup (n.1129+180_1129+187dup) n.1879+180_1879+187dup c.*84+180_*84+187dup (n.*84+180_*84+187dup) n.1555+180_1555+187dup c.1009+180_1009+187dup (n.1009+180_1009+187dup) c.*1073+180_*1073+187dup (n.*1073+180_*1073+187dup) n.6679+180_6679+187dup c.*1341+180_*1341+187dup (n.*1341+180_*1341+187dup) c.944-5004_944-4997dup (n.944-5004_944-4997dup) c.1172+137_1172+144dup (n.1172+137_1172+144dup) c.*791+180_*791+187dup (n.*791+180_*791+187dup) c.*687+180_*687+187dup (n.*687+180_*687+187dup) c.1030+180_1030+187dup (n.1030+180_1030+187dup) c.*1218+180_*1218+187dup (n.*1218+180_*1218+187dup) c.880+180_880+187dup (n.880+180_880+187dup) c.*1068+180_*1068+187dup (n.*1068+180_*1068+187dup) c.*909+180_*909+187dup (n.*909+180_*909+187dup) c.*569+180_*569+187dup (n.*569+180_*569+187dup) c.1156+180_1156+187dup (n.1156+180_1156+187dup) c.*597+180_*597+187dup (n.*597+180_*597+187dup) n.1527+180_1527+187dup n.2840+180_2840+187dup n.340+180_340+187dup n.2128+180_2128+187dup n.1264+180_1264+187dup c.1018+180_1018+187dup (n.1018+180_1018+187dup) c.853+180_853+187dup (n.853+180_853+187dup) c.1221+180_1221+187dup (n.1221+180_1221+187dup) c.1209+180_1209+187dup (n.1209+180_1209+187dup) n.494+180_494+187dup c.956-5004_956-4997dup (n.956-5004_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212121_73212129dup | CA964614915 | PSEN1 | c.1117+179_1117+187dup (n.1117+179_1117+187dup) c.1129+179_1129+187dup (n.1129+179_1129+187dup) n.1879+179_1879+187dup c.*84+179_*84+187dup (n.*84+179_*84+187dup) n.1555+179_1555+187dup c.1009+179_1009+187dup (n.1009+179_1009+187dup) c.*1073+179_*1073+187dup (n.*1073+179_*1073+187dup) n.6679+179_6679+187dup c.*1341+179_*1341+187dup (n.*1341+179_*1341+187dup) c.944-5005_944-4997dup (n.944-5005_944-4997dup) c.1172+136_1172+144dup (n.1172+136_1172+144dup) c.*791+179_*791+187dup (n.*791+179_*791+187dup) c.*687+179_*687+187dup (n.*687+179_*687+187dup) c.1030+179_1030+187dup (n.1030+179_1030+187dup) c.*1218+179_*1218+187dup (n.*1218+179_*1218+187dup) c.880+179_880+187dup (n.880+179_880+187dup) c.*1068+179_*1068+187dup (n.*1068+179_*1068+187dup) c.*909+179_*909+187dup (n.*909+179_*909+187dup) c.*569+179_*569+187dup (n.*569+179_*569+187dup) c.1156+179_1156+187dup (n.1156+179_1156+187dup) c.*597+179_*597+187dup (n.*597+179_*597+187dup) n.1527+179_1527+187dup n.2840+179_2840+187dup n.340+179_340+187dup n.2128+179_2128+187dup n.1264+179_1264+187dup c.1018+179_1018+187dup (n.1018+179_1018+187dup) c.853+179_853+187dup (n.853+179_853+187dup) c.1221+179_1221+187dup (n.1221+179_1221+187dup) c.1209+179_1209+187dup (n.1209+179_1209+187dup) n.494+179_494+187dup c.956-5005_956-4997dup (n.956-5005_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212120_73212129dup | CA964614920 | PSEN1 | c.1117+178_1117+187dup (n.1117+178_1117+187dup) c.1129+178_1129+187dup (n.1129+178_1129+187dup) n.1879+178_1879+187dup c.*84+178_*84+187dup (n.*84+178_*84+187dup) n.1555+178_1555+187dup c.1009+178_1009+187dup (n.1009+178_1009+187dup) c.*1073+178_*1073+187dup (n.*1073+178_*1073+187dup) n.6679+178_6679+187dup c.*1341+178_*1341+187dup (n.*1341+178_*1341+187dup) c.944-5006_944-4997dup (n.944-5006_944-4997dup) c.1172+135_1172+144dup (n.1172+135_1172+144dup) c.*791+178_*791+187dup (n.*791+178_*791+187dup) c.*687+178_*687+187dup (n.*687+178_*687+187dup) c.1030+178_1030+187dup (n.1030+178_1030+187dup) c.*1218+178_*1218+187dup (n.*1218+178_*1218+187dup) c.880+178_880+187dup (n.880+178_880+187dup) c.*1068+178_*1068+187dup (n.*1068+178_*1068+187dup) c.*909+178_*909+187dup (n.*909+178_*909+187dup) c.*569+178_*569+187dup (n.*569+178_*569+187dup) c.1156+178_1156+187dup (n.1156+178_1156+187dup) c.*597+178_*597+187dup (n.*597+178_*597+187dup) n.1527+178_1527+187dup n.2840+178_2840+187dup n.340+178_340+187dup n.2128+178_2128+187dup n.1264+178_1264+187dup c.1018+178_1018+187dup (n.1018+178_1018+187dup) c.853+178_853+187dup (n.853+178_853+187dup) c.1221+178_1221+187dup (n.1221+178_1221+187dup) c.1209+178_1209+187dup (n.1209+178_1209+187dup) n.494+178_494+187dup c.956-5006_956-4997dup (n.956-5006_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212119_73212129dup | CA964614925 | PSEN1 | c.1117+177_1117+187dup (n.1117+177_1117+187dup) c.1129+177_1129+187dup (n.1129+177_1129+187dup) n.1879+177_1879+187dup c.*84+177_*84+187dup (n.*84+177_*84+187dup) n.1555+177_1555+187dup c.1009+177_1009+187dup (n.1009+177_1009+187dup) c.*1073+177_*1073+187dup (n.*1073+177_*1073+187dup) n.6679+177_6679+187dup c.*1341+177_*1341+187dup (n.*1341+177_*1341+187dup) c.944-5007_944-4997dup (n.944-5007_944-4997dup) c.1172+134_1172+144dup (n.1172+134_1172+144dup) c.*791+177_*791+187dup (n.*791+177_*791+187dup) c.*687+177_*687+187dup (n.*687+177_*687+187dup) c.1030+177_1030+187dup (n.1030+177_1030+187dup) c.*1218+177_*1218+187dup (n.*1218+177_*1218+187dup) c.880+177_880+187dup (n.880+177_880+187dup) c.*1068+177_*1068+187dup (n.*1068+177_*1068+187dup) c.*909+177_*909+187dup (n.*909+177_*909+187dup) c.*569+177_*569+187dup (n.*569+177_*569+187dup) c.1156+177_1156+187dup (n.1156+177_1156+187dup) c.*597+177_*597+187dup (n.*597+177_*597+187dup) n.1527+177_1527+187dup n.2840+177_2840+187dup n.340+177_340+187dup n.2128+177_2128+187dup n.1264+177_1264+187dup c.1018+177_1018+187dup (n.1018+177_1018+187dup) c.853+177_853+187dup (n.853+177_853+187dup) c.1221+177_1221+187dup (n.1221+177_1221+187dup) c.1209+177_1209+187dup (n.1209+177_1209+187dup) n.494+177_494+187dup c.956-5007_956-4997dup (n.956-5007_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212118_73212129dup | CA964614926 | PSEN1 | c.1117+176_1117+187dup (n.1117+176_1117+187dup) c.1129+176_1129+187dup (n.1129+176_1129+187dup) n.1879+176_1879+187dup c.*84+176_*84+187dup (n.*84+176_*84+187dup) n.1555+176_1555+187dup c.1009+176_1009+187dup (n.1009+176_1009+187dup) c.*1073+176_*1073+187dup (n.*1073+176_*1073+187dup) n.6679+176_6679+187dup c.*1341+176_*1341+187dup (n.*1341+176_*1341+187dup) c.944-5008_944-4997dup (n.944-5008_944-4997dup) c.1172+133_1172+144dup (n.1172+133_1172+144dup) c.*791+176_*791+187dup (n.*791+176_*791+187dup) c.*687+176_*687+187dup (n.*687+176_*687+187dup) c.1030+176_1030+187dup (n.1030+176_1030+187dup) c.*1218+176_*1218+187dup (n.*1218+176_*1218+187dup) c.880+176_880+187dup (n.880+176_880+187dup) c.*1068+176_*1068+187dup (n.*1068+176_*1068+187dup) c.*909+176_*909+187dup (n.*909+176_*909+187dup) c.*569+176_*569+187dup (n.*569+176_*569+187dup) c.1156+176_1156+187dup (n.1156+176_1156+187dup) c.*597+176_*597+187dup (n.*597+176_*597+187dup) n.1527+176_1527+187dup n.2840+176_2840+187dup n.340+176_340+187dup n.2128+176_2128+187dup n.1264+176_1264+187dup c.1018+176_1018+187dup (n.1018+176_1018+187dup) c.853+176_853+187dup (n.853+176_853+187dup) c.1221+176_1221+187dup (n.1221+176_1221+187dup) c.1209+176_1209+187dup (n.1209+176_1209+187dup) n.494+176_494+187dup c.956-5008_956-4997dup (n.956-5008_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212117_73212129dup | CA964614931 | PSEN1 | c.1117+175_1117+187dup (n.1117+175_1117+187dup) c.1129+175_1129+187dup (n.1129+175_1129+187dup) n.1879+175_1879+187dup c.*84+175_*84+187dup (n.*84+175_*84+187dup) n.1555+175_1555+187dup c.1009+175_1009+187dup (n.1009+175_1009+187dup) c.*1073+175_*1073+187dup (n.*1073+175_*1073+187dup) n.6679+175_6679+187dup c.*1341+175_*1341+187dup (n.*1341+175_*1341+187dup) c.944-5009_944-4997dup (n.944-5009_944-4997dup) c.1172+132_1172+144dup (n.1172+132_1172+144dup) c.*791+175_*791+187dup (n.*791+175_*791+187dup) c.*687+175_*687+187dup (n.*687+175_*687+187dup) c.1030+175_1030+187dup (n.1030+175_1030+187dup) c.*1218+175_*1218+187dup (n.*1218+175_*1218+187dup) c.880+175_880+187dup (n.880+175_880+187dup) c.*1068+175_*1068+187dup (n.*1068+175_*1068+187dup) c.*909+175_*909+187dup (n.*909+175_*909+187dup) c.*569+175_*569+187dup (n.*569+175_*569+187dup) c.1156+175_1156+187dup (n.1156+175_1156+187dup) c.*597+175_*597+187dup (n.*597+175_*597+187dup) n.1527+175_1527+187dup n.2840+175_2840+187dup n.340+175_340+187dup n.2128+175_2128+187dup n.1264+175_1264+187dup c.1018+175_1018+187dup (n.1018+175_1018+187dup) c.853+175_853+187dup (n.853+175_853+187dup) c.1221+175_1221+187dup (n.1221+175_1221+187dup) c.1209+175_1209+187dup (n.1209+175_1209+187dup) n.494+175_494+187dup c.956-5009_956-4997dup (n.956-5009_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212116_73212129dup | CA919449609 | PSEN1 | c.1117+174_1117+187dup (n.1117+174_1117+187dup) c.1129+174_1129+187dup (n.1129+174_1129+187dup) n.1879+174_1879+187dup c.*84+174_*84+187dup (n.*84+174_*84+187dup) n.1555+174_1555+187dup c.1009+174_1009+187dup (n.1009+174_1009+187dup) c.*1073+174_*1073+187dup (n.*1073+174_*1073+187dup) n.6679+174_6679+187dup c.*1341+174_*1341+187dup (n.*1341+174_*1341+187dup) c.944-5010_944-4997dup (n.944-5010_944-4997dup) c.1172+131_1172+144dup (n.1172+131_1172+144dup) c.*791+174_*791+187dup (n.*791+174_*791+187dup) c.*687+174_*687+187dup (n.*687+174_*687+187dup) c.1030+174_1030+187dup (n.1030+174_1030+187dup) c.*1218+174_*1218+187dup (n.*1218+174_*1218+187dup) c.880+174_880+187dup (n.880+174_880+187dup) c.*1068+174_*1068+187dup (n.*1068+174_*1068+187dup) c.*909+174_*909+187dup (n.*909+174_*909+187dup) c.*569+174_*569+187dup (n.*569+174_*569+187dup) c.1156+174_1156+187dup (n.1156+174_1156+187dup) c.*597+174_*597+187dup (n.*597+174_*597+187dup) n.1527+174_1527+187dup n.2840+174_2840+187dup n.340+174_340+187dup n.2128+174_2128+187dup n.1264+174_1264+187dup c.1018+174_1018+187dup (n.1018+174_1018+187dup) c.853+174_853+187dup (n.853+174_853+187dup) c.1221+174_1221+187dup (n.1221+174_1221+187dup) c.1209+174_1209+187dup (n.1209+174_1209+187dup) n.494+174_494+187dup c.956-5010_956-4997dup (n.956-5010_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212115_73212129dup | CA964614935 | PSEN1 | c.1117+173_1117+187dup (n.1117+173_1117+187dup) c.1129+173_1129+187dup (n.1129+173_1129+187dup) n.1879+173_1879+187dup c.*84+173_*84+187dup (n.*84+173_*84+187dup) n.1555+173_1555+187dup c.1009+173_1009+187dup (n.1009+173_1009+187dup) c.*1073+173_*1073+187dup (n.*1073+173_*1073+187dup) n.6679+173_6679+187dup c.*1341+173_*1341+187dup (n.*1341+173_*1341+187dup) c.944-5011_944-4997dup (n.944-5011_944-4997dup) c.1172+130_1172+144dup (n.1172+130_1172+144dup) c.*791+173_*791+187dup (n.*791+173_*791+187dup) c.*687+173_*687+187dup (n.*687+173_*687+187dup) c.1030+173_1030+187dup (n.1030+173_1030+187dup) c.*1218+173_*1218+187dup (n.*1218+173_*1218+187dup) c.880+173_880+187dup (n.880+173_880+187dup) c.*1068+173_*1068+187dup (n.*1068+173_*1068+187dup) c.*909+173_*909+187dup (n.*909+173_*909+187dup) c.*569+173_*569+187dup (n.*569+173_*569+187dup) c.1156+173_1156+187dup (n.1156+173_1156+187dup) c.*597+173_*597+187dup (n.*597+173_*597+187dup) n.1527+173_1527+187dup n.2840+173_2840+187dup n.340+173_340+187dup n.2128+173_2128+187dup n.1264+173_1264+187dup c.1018+173_1018+187dup (n.1018+173_1018+187dup) c.853+173_853+187dup (n.853+173_853+187dup) c.1221+173_1221+187dup (n.1221+173_1221+187dup) c.1209+173_1209+187dup (n.1209+173_1209+187dup) n.494+173_494+187dup c.956-5011_956-4997dup (n.956-5011_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212114_73212129dup | CA964614937 | PSEN1 | c.1117+172_1117+187dup (n.1117+172_1117+187dup) c.1129+172_1129+187dup (n.1129+172_1129+187dup) n.1879+172_1879+187dup c.*84+172_*84+187dup (n.*84+172_*84+187dup) n.1555+172_1555+187dup c.1009+172_1009+187dup (n.1009+172_1009+187dup) c.*1073+172_*1073+187dup (n.*1073+172_*1073+187dup) n.6679+172_6679+187dup c.*1341+172_*1341+187dup (n.*1341+172_*1341+187dup) c.944-5012_944-4997dup (n.944-5012_944-4997dup) c.1172+129_1172+144dup (n.1172+129_1172+144dup) c.*791+172_*791+187dup (n.*791+172_*791+187dup) c.*687+172_*687+187dup (n.*687+172_*687+187dup) c.1030+172_1030+187dup (n.1030+172_1030+187dup) c.*1218+172_*1218+187dup (n.*1218+172_*1218+187dup) c.880+172_880+187dup (n.880+172_880+187dup) c.*1068+172_*1068+187dup (n.*1068+172_*1068+187dup) c.*909+172_*909+187dup (n.*909+172_*909+187dup) c.*569+172_*569+187dup (n.*569+172_*569+187dup) c.1156+172_1156+187dup (n.1156+172_1156+187dup) c.*597+172_*597+187dup (n.*597+172_*597+187dup) n.1527+172_1527+187dup n.2840+172_2840+187dup n.340+172_340+187dup n.2128+172_2128+187dup n.1264+172_1264+187dup c.1018+172_1018+187dup (n.1018+172_1018+187dup) c.853+172_853+187dup (n.853+172_853+187dup) c.1221+172_1221+187dup (n.1221+172_1221+187dup) c.1209+172_1209+187dup (n.1209+172_1209+187dup) n.494+172_494+187dup c.956-5012_956-4997dup (n.956-5012_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212113_73212129dup | CA964614906 | PSEN1 | c.1117+171_1117+187dup (n.1117+171_1117+187dup) c.1129+171_1129+187dup (n.1129+171_1129+187dup) n.1879+171_1879+187dup c.*84+171_*84+187dup (n.*84+171_*84+187dup) n.1555+171_1555+187dup c.1009+171_1009+187dup (n.1009+171_1009+187dup) c.*1073+171_*1073+187dup (n.*1073+171_*1073+187dup) n.6679+171_6679+187dup c.*1341+171_*1341+187dup (n.*1341+171_*1341+187dup) c.944-5013_944-4997dup (n.944-5013_944-4997dup) c.1172+128_1172+144dup (n.1172+128_1172+144dup) c.*791+171_*791+187dup (n.*791+171_*791+187dup) c.*687+171_*687+187dup (n.*687+171_*687+187dup) c.1030+171_1030+187dup (n.1030+171_1030+187dup) c.*1218+171_*1218+187dup (n.*1218+171_*1218+187dup) c.880+171_880+187dup (n.880+171_880+187dup) c.*1068+171_*1068+187dup (n.*1068+171_*1068+187dup) c.*909+171_*909+187dup (n.*909+171_*909+187dup) c.*569+171_*569+187dup (n.*569+171_*569+187dup) c.1156+171_1156+187dup (n.1156+171_1156+187dup) c.*597+171_*597+187dup (n.*597+171_*597+187dup) n.1527+171_1527+187dup n.2840+171_2840+187dup n.340+171_340+187dup n.2128+171_2128+187dup n.1264+171_1264+187dup c.1018+171_1018+187dup (n.1018+171_1018+187dup) c.853+171_853+187dup (n.853+171_853+187dup) c.1221+171_1221+187dup (n.1221+171_1221+187dup) c.1209+171_1209+187dup (n.1209+171_1209+187dup) n.494+171_494+187dup c.956-5013_956-4997dup (n.956-5013_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212112_73212129dup | CA964614905 | PSEN1 | c.1117+170_1117+187dup (n.1117+170_1117+187dup) c.1129+170_1129+187dup (n.1129+170_1129+187dup) n.1879+170_1879+187dup c.*84+170_*84+187dup (n.*84+170_*84+187dup) n.1555+170_1555+187dup c.1009+170_1009+187dup (n.1009+170_1009+187dup) c.*1073+170_*1073+187dup (n.*1073+170_*1073+187dup) n.6679+170_6679+187dup c.*1341+170_*1341+187dup (n.*1341+170_*1341+187dup) c.944-5014_944-4997dup (n.944-5014_944-4997dup) c.1172+127_1172+144dup (n.1172+127_1172+144dup) c.*791+170_*791+187dup (n.*791+170_*791+187dup) c.*687+170_*687+187dup (n.*687+170_*687+187dup) c.1030+170_1030+187dup (n.1030+170_1030+187dup) c.*1218+170_*1218+187dup (n.*1218+170_*1218+187dup) c.880+170_880+187dup (n.880+170_880+187dup) c.*1068+170_*1068+187dup (n.*1068+170_*1068+187dup) c.*909+170_*909+187dup (n.*909+170_*909+187dup) c.*569+170_*569+187dup (n.*569+170_*569+187dup) c.1156+170_1156+187dup (n.1156+170_1156+187dup) c.*597+170_*597+187dup (n.*597+170_*597+187dup) n.1527+170_1527+187dup n.2840+170_2840+187dup n.340+170_340+187dup n.2128+170_2128+187dup n.1264+170_1264+187dup c.1018+170_1018+187dup (n.1018+170_1018+187dup) c.853+170_853+187dup (n.853+170_853+187dup) c.1221+170_1221+187dup (n.1221+170_1221+187dup) c.1209+170_1209+187dup (n.1209+170_1209+187dup) n.494+170_494+187dup c.956-5014_956-4997dup (n.956-5014_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212111_73212129dup | CA964614901 | PSEN1 | c.1117+169_1117+187dup (n.1117+169_1117+187dup) c.1129+169_1129+187dup (n.1129+169_1129+187dup) n.1879+169_1879+187dup c.*84+169_*84+187dup (n.*84+169_*84+187dup) n.1555+169_1555+187dup c.1009+169_1009+187dup (n.1009+169_1009+187dup) c.*1073+169_*1073+187dup (n.*1073+169_*1073+187dup) n.6679+169_6679+187dup c.*1341+169_*1341+187dup (n.*1341+169_*1341+187dup) c.944-5015_944-4997dup (n.944-5015_944-4997dup) c.1172+126_1172+144dup (n.1172+126_1172+144dup) c.*791+169_*791+187dup (n.*791+169_*791+187dup) c.*687+169_*687+187dup (n.*687+169_*687+187dup) c.1030+169_1030+187dup (n.1030+169_1030+187dup) c.*1218+169_*1218+187dup (n.*1218+169_*1218+187dup) c.880+169_880+187dup (n.880+169_880+187dup) c.*1068+169_*1068+187dup (n.*1068+169_*1068+187dup) c.*909+169_*909+187dup (n.*909+169_*909+187dup) c.*569+169_*569+187dup (n.*569+169_*569+187dup) c.1156+169_1156+187dup (n.1156+169_1156+187dup) c.*597+169_*597+187dup (n.*597+169_*597+187dup) n.1527+169_1527+187dup n.2840+169_2840+187dup n.340+169_340+187dup n.2128+169_2128+187dup n.1264+169_1264+187dup c.1018+169_1018+187dup (n.1018+169_1018+187dup) c.853+169_853+187dup (n.853+169_853+187dup) c.1221+169_1221+187dup (n.1221+169_1221+187dup) c.1209+169_1209+187dup (n.1209+169_1209+187dup) n.494+169_494+187dup c.956-5015_956-4997dup (n.956-5015_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212110_73212129dup | CA964614900 | PSEN1 | c.1117+168_1117+187dup (n.1117+168_1117+187dup) c.1129+168_1129+187dup (n.1129+168_1129+187dup) n.1879+168_1879+187dup c.*84+168_*84+187dup (n.*84+168_*84+187dup) n.1555+168_1555+187dup c.1009+168_1009+187dup (n.1009+168_1009+187dup) c.*1073+168_*1073+187dup (n.*1073+168_*1073+187dup) n.6679+168_6679+187dup c.*1341+168_*1341+187dup (n.*1341+168_*1341+187dup) c.944-5016_944-4997dup (n.944-5016_944-4997dup) c.1172+125_1172+144dup (n.1172+125_1172+144dup) c.*791+168_*791+187dup (n.*791+168_*791+187dup) c.*687+168_*687+187dup (n.*687+168_*687+187dup) c.1030+168_1030+187dup (n.1030+168_1030+187dup) c.*1218+168_*1218+187dup (n.*1218+168_*1218+187dup) c.880+168_880+187dup (n.880+168_880+187dup) c.*1068+168_*1068+187dup (n.*1068+168_*1068+187dup) c.*909+168_*909+187dup (n.*909+168_*909+187dup) c.*569+168_*569+187dup (n.*569+168_*569+187dup) c.1156+168_1156+187dup (n.1156+168_1156+187dup) c.*597+168_*597+187dup (n.*597+168_*597+187dup) n.1527+168_1527+187dup n.2840+168_2840+187dup n.340+168_340+187dup n.2128+168_2128+187dup n.1264+168_1264+187dup c.1018+168_1018+187dup (n.1018+168_1018+187dup) c.853+168_853+187dup (n.853+168_853+187dup) c.1221+168_1221+187dup (n.1221+168_1221+187dup) c.1209+168_1209+187dup (n.1209+168_1209+187dup) n.494+168_494+187dup c.956-5016_956-4997dup (n.956-5016_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212109_73212129dup | CA964614898 | PSEN1 | c.1117+167_1117+187dup (n.1117+167_1117+187dup) c.1129+167_1129+187dup (n.1129+167_1129+187dup) n.1879+167_1879+187dup c.*84+167_*84+187dup (n.*84+167_*84+187dup) n.1555+167_1555+187dup c.1009+167_1009+187dup (n.1009+167_1009+187dup) c.*1073+167_*1073+187dup (n.*1073+167_*1073+187dup) n.6679+167_6679+187dup c.*1341+167_*1341+187dup (n.*1341+167_*1341+187dup) c.944-5017_944-4997dup (n.944-5017_944-4997dup) c.1172+124_1172+144dup (n.1172+124_1172+144dup) c.*791+167_*791+187dup (n.*791+167_*791+187dup) c.*687+167_*687+187dup (n.*687+167_*687+187dup) c.1030+167_1030+187dup (n.1030+167_1030+187dup) c.*1218+167_*1218+187dup (n.*1218+167_*1218+187dup) c.880+167_880+187dup (n.880+167_880+187dup) c.*1068+167_*1068+187dup (n.*1068+167_*1068+187dup) c.*909+167_*909+187dup (n.*909+167_*909+187dup) c.*569+167_*569+187dup (n.*569+167_*569+187dup) c.1156+167_1156+187dup (n.1156+167_1156+187dup) c.*597+167_*597+187dup (n.*597+167_*597+187dup) n.1527+167_1527+187dup n.2840+167_2840+187dup n.340+167_340+187dup n.2128+167_2128+187dup n.1264+167_1264+187dup c.1018+167_1018+187dup (n.1018+167_1018+187dup) c.853+167_853+187dup (n.853+167_853+187dup) c.1221+167_1221+187dup (n.1221+167_1221+187dup) c.1209+167_1209+187dup (n.1209+167_1209+187dup) n.494+167_494+187dup c.956-5017_956-4997dup (n.956-5017_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212108_73212129dup | CA964614890 | PSEN1 | c.1117+166_1117+187dup (n.1117+166_1117+187dup) c.1129+166_1129+187dup (n.1129+166_1129+187dup) n.1879+166_1879+187dup c.*84+166_*84+187dup (n.*84+166_*84+187dup) n.1555+166_1555+187dup c.1009+166_1009+187dup (n.1009+166_1009+187dup) c.*1073+166_*1073+187dup (n.*1073+166_*1073+187dup) n.6679+166_6679+187dup c.*1341+166_*1341+187dup (n.*1341+166_*1341+187dup) c.944-5018_944-4997dup (n.944-5018_944-4997dup) c.1172+123_1172+144dup (n.1172+123_1172+144dup) c.*791+166_*791+187dup (n.*791+166_*791+187dup) c.*687+166_*687+187dup (n.*687+166_*687+187dup) c.1030+166_1030+187dup (n.1030+166_1030+187dup) c.*1218+166_*1218+187dup (n.*1218+166_*1218+187dup) c.880+166_880+187dup (n.880+166_880+187dup) c.*1068+166_*1068+187dup (n.*1068+166_*1068+187dup) c.*909+166_*909+187dup (n.*909+166_*909+187dup) c.*569+166_*569+187dup (n.*569+166_*569+187dup) c.1156+166_1156+187dup (n.1156+166_1156+187dup) c.*597+166_*597+187dup (n.*597+166_*597+187dup) n.1527+166_1527+187dup n.2840+166_2840+187dup n.340+166_340+187dup n.2128+166_2128+187dup n.1264+166_1264+187dup c.1018+166_1018+187dup (n.1018+166_1018+187dup) c.853+166_853+187dup (n.853+166_853+187dup) c.1221+166_1221+187dup (n.1221+166_1221+187dup) c.1209+166_1209+187dup (n.1209+166_1209+187dup) n.494+166_494+187dup c.956-5018_956-4997dup (n.956-5018_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212107_73212129dup | CA964614884 | PSEN1 | c.1117+165_1117+187dup (n.1117+165_1117+187dup) c.1129+165_1129+187dup (n.1129+165_1129+187dup) n.1879+165_1879+187dup c.*84+165_*84+187dup (n.*84+165_*84+187dup) n.1555+165_1555+187dup c.1009+165_1009+187dup (n.1009+165_1009+187dup) c.*1073+165_*1073+187dup (n.*1073+165_*1073+187dup) n.6679+165_6679+187dup c.*1341+165_*1341+187dup (n.*1341+165_*1341+187dup) c.944-5019_944-4997dup (n.944-5019_944-4997dup) c.1172+122_1172+144dup (n.1172+122_1172+144dup) c.*791+165_*791+187dup (n.*791+165_*791+187dup) c.*687+165_*687+187dup (n.*687+165_*687+187dup) c.1030+165_1030+187dup (n.1030+165_1030+187dup) c.*1218+165_*1218+187dup (n.*1218+165_*1218+187dup) c.880+165_880+187dup (n.880+165_880+187dup) c.*1068+165_*1068+187dup (n.*1068+165_*1068+187dup) c.*909+165_*909+187dup (n.*909+165_*909+187dup) c.*569+165_*569+187dup (n.*569+165_*569+187dup) c.1156+165_1156+187dup (n.1156+165_1156+187dup) c.*597+165_*597+187dup (n.*597+165_*597+187dup) n.1527+165_1527+187dup n.2840+165_2840+187dup n.340+165_340+187dup n.2128+165_2128+187dup n.1264+165_1264+187dup c.1018+165_1018+187dup (n.1018+165_1018+187dup) c.853+165_853+187dup (n.853+165_853+187dup) c.1221+165_1221+187dup (n.1221+165_1221+187dup) c.1209+165_1209+187dup (n.1209+165_1209+187dup) n.494+165_494+187dup c.956-5019_956-4997dup (n.956-5019_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212106_73212129dup | CA964614878 | PSEN1 | c.1117+164_1117+187dup (n.1117+164_1117+187dup) c.1129+164_1129+187dup (n.1129+164_1129+187dup) n.1879+164_1879+187dup c.*84+164_*84+187dup (n.*84+164_*84+187dup) n.1555+164_1555+187dup c.1009+164_1009+187dup (n.1009+164_1009+187dup) c.*1073+164_*1073+187dup (n.*1073+164_*1073+187dup) n.6679+164_6679+187dup c.*1341+164_*1341+187dup (n.*1341+164_*1341+187dup) c.944-5020_944-4997dup (n.944-5020_944-4997dup) c.1172+121_1172+144dup (n.1172+121_1172+144dup) c.*791+164_*791+187dup (n.*791+164_*791+187dup) c.*687+164_*687+187dup (n.*687+164_*687+187dup) c.1030+164_1030+187dup (n.1030+164_1030+187dup) c.*1218+164_*1218+187dup (n.*1218+164_*1218+187dup) c.880+164_880+187dup (n.880+164_880+187dup) c.*1068+164_*1068+187dup (n.*1068+164_*1068+187dup) c.*909+164_*909+187dup (n.*909+164_*909+187dup) c.*569+164_*569+187dup (n.*569+164_*569+187dup) c.1156+164_1156+187dup (n.1156+164_1156+187dup) c.*597+164_*597+187dup (n.*597+164_*597+187dup) n.1527+164_1527+187dup n.2840+164_2840+187dup n.340+164_340+187dup n.2128+164_2128+187dup n.1264+164_1264+187dup c.1018+164_1018+187dup (n.1018+164_1018+187dup) c.853+164_853+187dup (n.853+164_853+187dup) c.1221+164_1221+187dup (n.1221+164_1221+187dup) c.1209+164_1209+187dup (n.1209+164_1209+187dup) n.494+164_494+187dup c.956-5020_956-4997dup (n.956-5020_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212105_73212129dup | CA964614869 | PSEN1 | c.1117+163_1117+187dup (n.1117+163_1117+187dup) c.1129+163_1129+187dup (n.1129+163_1129+187dup) n.1879+163_1879+187dup c.*84+163_*84+187dup (n.*84+163_*84+187dup) n.1555+163_1555+187dup c.1009+163_1009+187dup (n.1009+163_1009+187dup) c.*1073+163_*1073+187dup (n.*1073+163_*1073+187dup) n.6679+163_6679+187dup c.*1341+163_*1341+187dup (n.*1341+163_*1341+187dup) c.944-5021_944-4997dup (n.944-5021_944-4997dup) c.1172+120_1172+144dup (n.1172+120_1172+144dup) c.*791+163_*791+187dup (n.*791+163_*791+187dup) c.*687+163_*687+187dup (n.*687+163_*687+187dup) c.1030+163_1030+187dup (n.1030+163_1030+187dup) c.*1218+163_*1218+187dup (n.*1218+163_*1218+187dup) c.880+163_880+187dup (n.880+163_880+187dup) c.*1068+163_*1068+187dup (n.*1068+163_*1068+187dup) c.*909+163_*909+187dup (n.*909+163_*909+187dup) c.*569+163_*569+187dup (n.*569+163_*569+187dup) c.1156+163_1156+187dup (n.1156+163_1156+187dup) c.*597+163_*597+187dup (n.*597+163_*597+187dup) n.1527+163_1527+187dup n.2840+163_2840+187dup n.340+163_340+187dup n.2128+163_2128+187dup n.1264+163_1264+187dup c.1018+163_1018+187dup (n.1018+163_1018+187dup) c.853+163_853+187dup (n.853+163_853+187dup) c.1221+163_1221+187dup (n.1221+163_1221+187dup) c.1209+163_1209+187dup (n.1209+163_1209+187dup) n.494+163_494+187dup c.956-5021_956-4997dup (n.956-5021_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212104_73212129dup | CA964614863 | PSEN1 | c.1117+162_1117+187dup (n.1117+162_1117+187dup) c.1129+162_1129+187dup (n.1129+162_1129+187dup) n.1879+162_1879+187dup c.*84+162_*84+187dup (n.*84+162_*84+187dup) n.1555+162_1555+187dup c.1009+162_1009+187dup (n.1009+162_1009+187dup) c.*1073+162_*1073+187dup (n.*1073+162_*1073+187dup) n.6679+162_6679+187dup c.*1341+162_*1341+187dup (n.*1341+162_*1341+187dup) c.944-5022_944-4997dup (n.944-5022_944-4997dup) c.1172+119_1172+144dup (n.1172+119_1172+144dup) c.*791+162_*791+187dup (n.*791+162_*791+187dup) c.*687+162_*687+187dup (n.*687+162_*687+187dup) c.1030+162_1030+187dup (n.1030+162_1030+187dup) c.*1218+162_*1218+187dup (n.*1218+162_*1218+187dup) c.880+162_880+187dup (n.880+162_880+187dup) c.*1068+162_*1068+187dup (n.*1068+162_*1068+187dup) c.*909+162_*909+187dup (n.*909+162_*909+187dup) c.*569+162_*569+187dup (n.*569+162_*569+187dup) c.1156+162_1156+187dup (n.1156+162_1156+187dup) c.*597+162_*597+187dup (n.*597+162_*597+187dup) n.1527+162_1527+187dup n.2840+162_2840+187dup n.340+162_340+187dup n.2128+162_2128+187dup n.1264+162_1264+187dup c.1018+162_1018+187dup (n.1018+162_1018+187dup) c.853+162_853+187dup (n.853+162_853+187dup) c.1221+162_1221+187dup (n.1221+162_1221+187dup) c.1209+162_1209+187dup (n.1209+162_1209+187dup) n.494+162_494+187dup c.956-5022_956-4997dup (n.956-5022_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212103_73212129dup | CA964614860 | PSEN1 | c.1117+161_1117+187dup (n.1117+161_1117+187dup) c.1129+161_1129+187dup (n.1129+161_1129+187dup) n.1879+161_1879+187dup c.*84+161_*84+187dup (n.*84+161_*84+187dup) n.1555+161_1555+187dup c.1009+161_1009+187dup (n.1009+161_1009+187dup) c.*1073+161_*1073+187dup (n.*1073+161_*1073+187dup) n.6679+161_6679+187dup c.*1341+161_*1341+187dup (n.*1341+161_*1341+187dup) c.944-5023_944-4997dup (n.944-5023_944-4997dup) c.1172+118_1172+144dup (n.1172+118_1172+144dup) c.*791+161_*791+187dup (n.*791+161_*791+187dup) c.*687+161_*687+187dup (n.*687+161_*687+187dup) c.1030+161_1030+187dup (n.1030+161_1030+187dup) c.*1218+161_*1218+187dup (n.*1218+161_*1218+187dup) c.880+161_880+187dup (n.880+161_880+187dup) c.*1068+161_*1068+187dup (n.*1068+161_*1068+187dup) c.*909+161_*909+187dup (n.*909+161_*909+187dup) c.*569+161_*569+187dup (n.*569+161_*569+187dup) c.1156+161_1156+187dup (n.1156+161_1156+187dup) c.*597+161_*597+187dup (n.*597+161_*597+187dup) n.1527+161_1527+187dup n.2840+161_2840+187dup n.340+161_340+187dup n.2128+161_2128+187dup n.1264+161_1264+187dup c.1018+161_1018+187dup (n.1018+161_1018+187dup) c.853+161_853+187dup (n.853+161_853+187dup) c.1221+161_1221+187dup (n.1221+161_1221+187dup) c.1209+161_1209+187dup (n.1209+161_1209+187dup) n.494+161_494+187dup c.956-5023_956-4997dup (n.956-5023_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212102_73212129dup | CA964614697 | PSEN1 | c.1117+160_1117+187dup (n.1117+160_1117+187dup) c.1129+160_1129+187dup (n.1129+160_1129+187dup) n.1879+160_1879+187dup c.*84+160_*84+187dup (n.*84+160_*84+187dup) n.1555+160_1555+187dup c.1009+160_1009+187dup (n.1009+160_1009+187dup) c.*1073+160_*1073+187dup (n.*1073+160_*1073+187dup) n.6679+160_6679+187dup c.*1341+160_*1341+187dup (n.*1341+160_*1341+187dup) c.944-5024_944-4997dup (n.944-5024_944-4997dup) c.1172+117_1172+144dup (n.1172+117_1172+144dup) c.*791+160_*791+187dup (n.*791+160_*791+187dup) c.*687+160_*687+187dup (n.*687+160_*687+187dup) c.1030+160_1030+187dup (n.1030+160_1030+187dup) c.*1218+160_*1218+187dup (n.*1218+160_*1218+187dup) c.880+160_880+187dup (n.880+160_880+187dup) c.*1068+160_*1068+187dup (n.*1068+160_*1068+187dup) c.*909+160_*909+187dup (n.*909+160_*909+187dup) c.*569+160_*569+187dup (n.*569+160_*569+187dup) c.1156+160_1156+187dup (n.1156+160_1156+187dup) c.*597+160_*597+187dup (n.*597+160_*597+187dup) n.1527+160_1527+187dup n.2840+160_2840+187dup n.340+160_340+187dup n.2128+160_2128+187dup n.1264+160_1264+187dup c.1018+160_1018+187dup (n.1018+160_1018+187dup) c.853+160_853+187dup (n.853+160_853+187dup) c.1221+160_1221+187dup (n.1221+160_1221+187dup) c.1209+160_1209+187dup (n.1209+160_1209+187dup) n.494+160_494+187dup c.956-5024_956-4997dup (n.956-5024_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212101_73212129dup | CA964614775 | PSEN1 | c.1117+159_1117+187dup (n.1117+159_1117+187dup) c.1129+159_1129+187dup (n.1129+159_1129+187dup) n.1879+159_1879+187dup c.*84+159_*84+187dup (n.*84+159_*84+187dup) n.1555+159_1555+187dup c.1009+159_1009+187dup (n.1009+159_1009+187dup) c.*1073+159_*1073+187dup (n.*1073+159_*1073+187dup) n.6679+159_6679+187dup c.*1341+159_*1341+187dup (n.*1341+159_*1341+187dup) c.944-5025_944-4997dup (n.944-5025_944-4997dup) c.1172+116_1172+144dup (n.1172+116_1172+144dup) c.*791+159_*791+187dup (n.*791+159_*791+187dup) c.*687+159_*687+187dup (n.*687+159_*687+187dup) c.1030+159_1030+187dup (n.1030+159_1030+187dup) c.*1218+159_*1218+187dup (n.*1218+159_*1218+187dup) c.880+159_880+187dup (n.880+159_880+187dup) c.*1068+159_*1068+187dup (n.*1068+159_*1068+187dup) c.*909+159_*909+187dup (n.*909+159_*909+187dup) c.*569+159_*569+187dup (n.*569+159_*569+187dup) c.1156+159_1156+187dup (n.1156+159_1156+187dup) c.*597+159_*597+187dup (n.*597+159_*597+187dup) n.1527+159_1527+187dup n.2840+159_2840+187dup n.340+159_340+187dup n.2128+159_2128+187dup n.1264+159_1264+187dup c.1018+159_1018+187dup (n.1018+159_1018+187dup) c.853+159_853+187dup (n.853+159_853+187dup) c.1221+159_1221+187dup (n.1221+159_1221+187dup) c.1209+159_1209+187dup (n.1209+159_1209+187dup) n.494+159_494+187dup c.956-5025_956-4997dup (n.956-5025_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212100_73212129dup | CA964614768 | PSEN1 | c.1117+158_1117+187dup (n.1117+158_1117+187dup) c.1129+158_1129+187dup (n.1129+158_1129+187dup) n.1879+158_1879+187dup c.*84+158_*84+187dup (n.*84+158_*84+187dup) n.1555+158_1555+187dup c.1009+158_1009+187dup (n.1009+158_1009+187dup) c.*1073+158_*1073+187dup (n.*1073+158_*1073+187dup) n.6679+158_6679+187dup c.*1341+158_*1341+187dup (n.*1341+158_*1341+187dup) c.944-5026_944-4997dup (n.944-5026_944-4997dup) c.1172+115_1172+144dup (n.1172+115_1172+144dup) c.*791+158_*791+187dup (n.*791+158_*791+187dup) c.*687+158_*687+187dup (n.*687+158_*687+187dup) c.1030+158_1030+187dup (n.1030+158_1030+187dup) c.*1218+158_*1218+187dup (n.*1218+158_*1218+187dup) c.880+158_880+187dup (n.880+158_880+187dup) c.*1068+158_*1068+187dup (n.*1068+158_*1068+187dup) c.*909+158_*909+187dup (n.*909+158_*909+187dup) c.*569+158_*569+187dup (n.*569+158_*569+187dup) c.1156+158_1156+187dup (n.1156+158_1156+187dup) c.*597+158_*597+187dup (n.*597+158_*597+187dup) n.1527+158_1527+187dup n.2840+158_2840+187dup n.340+158_340+187dup n.2128+158_2128+187dup n.1264+158_1264+187dup c.1018+158_1018+187dup (n.1018+158_1018+187dup) c.853+158_853+187dup (n.853+158_853+187dup) c.1221+158_1221+187dup (n.1221+158_1221+187dup) c.1209+158_1209+187dup (n.1209+158_1209+187dup) n.494+158_494+187dup c.956-5026_956-4997dup (n.956-5026_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212099_73212129dup | CA964614758 | PSEN1 | c.1117+157_1117+187dup (n.1117+157_1117+187dup) c.1129+157_1129+187dup (n.1129+157_1129+187dup) n.1879+157_1879+187dup c.*84+157_*84+187dup (n.*84+157_*84+187dup) n.1555+157_1555+187dup c.1009+157_1009+187dup (n.1009+157_1009+187dup) c.*1073+157_*1073+187dup (n.*1073+157_*1073+187dup) n.6679+157_6679+187dup c.*1341+157_*1341+187dup (n.*1341+157_*1341+187dup) c.944-5027_944-4997dup (n.944-5027_944-4997dup) c.1172+114_1172+144dup (n.1172+114_1172+144dup) c.*791+157_*791+187dup (n.*791+157_*791+187dup) c.*687+157_*687+187dup (n.*687+157_*687+187dup) c.1030+157_1030+187dup (n.1030+157_1030+187dup) c.*1218+157_*1218+187dup (n.*1218+157_*1218+187dup) c.880+157_880+187dup (n.880+157_880+187dup) c.*1068+157_*1068+187dup (n.*1068+157_*1068+187dup) c.*909+157_*909+187dup (n.*909+157_*909+187dup) c.*569+157_*569+187dup (n.*569+157_*569+187dup) c.1156+157_1156+187dup (n.1156+157_1156+187dup) c.*597+157_*597+187dup (n.*597+157_*597+187dup) n.1527+157_1527+187dup n.2840+157_2840+187dup n.340+157_340+187dup n.2128+157_2128+187dup n.1264+157_1264+187dup c.1018+157_1018+187dup (n.1018+157_1018+187dup) c.853+157_853+187dup (n.853+157_853+187dup) c.1221+157_1221+187dup (n.1221+157_1221+187dup) c.1209+157_1209+187dup (n.1209+157_1209+187dup) n.494+157_494+187dup c.956-5027_956-4997dup (n.956-5027_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212098_73212129dup | CA964614731 | PSEN1 | c.1117+156_1117+187dup (n.1117+156_1117+187dup) c.1129+156_1129+187dup (n.1129+156_1129+187dup) n.1879+156_1879+187dup c.*84+156_*84+187dup (n.*84+156_*84+187dup) n.1555+156_1555+187dup c.1009+156_1009+187dup (n.1009+156_1009+187dup) c.*1073+156_*1073+187dup (n.*1073+156_*1073+187dup) n.6679+156_6679+187dup c.*1341+156_*1341+187dup (n.*1341+156_*1341+187dup) c.944-5028_944-4997dup (n.944-5028_944-4997dup) c.1172+113_1172+144dup (n.1172+113_1172+144dup) c.*791+156_*791+187dup (n.*791+156_*791+187dup) c.*687+156_*687+187dup (n.*687+156_*687+187dup) c.1030+156_1030+187dup (n.1030+156_1030+187dup) c.*1218+156_*1218+187dup (n.*1218+156_*1218+187dup) c.880+156_880+187dup (n.880+156_880+187dup) c.*1068+156_*1068+187dup (n.*1068+156_*1068+187dup) c.*909+156_*909+187dup (n.*909+156_*909+187dup) c.*569+156_*569+187dup (n.*569+156_*569+187dup) c.1156+156_1156+187dup (n.1156+156_1156+187dup) c.*597+156_*597+187dup (n.*597+156_*597+187dup) n.1527+156_1527+187dup n.2840+156_2840+187dup n.340+156_340+187dup n.2128+156_2128+187dup n.1264+156_1264+187dup c.1018+156_1018+187dup (n.1018+156_1018+187dup) c.853+156_853+187dup (n.853+156_853+187dup) c.1221+156_1221+187dup (n.1221+156_1221+187dup) c.1209+156_1209+187dup (n.1209+156_1209+187dup) n.494+156_494+187dup c.956-5028_956-4997dup (n.956-5028_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212097_73212129dup | CA964614727 | PSEN1 | c.1117+155_1117+187dup (n.1117+155_1117+187dup) c.1129+155_1129+187dup (n.1129+155_1129+187dup) n.1879+155_1879+187dup c.*84+155_*84+187dup (n.*84+155_*84+187dup) n.1555+155_1555+187dup c.1009+155_1009+187dup (n.1009+155_1009+187dup) c.*1073+155_*1073+187dup (n.*1073+155_*1073+187dup) n.6679+155_6679+187dup c.*1341+155_*1341+187dup (n.*1341+155_*1341+187dup) c.944-5029_944-4997dup (n.944-5029_944-4997dup) c.1172+112_1172+144dup (n.1172+112_1172+144dup) c.*791+155_*791+187dup (n.*791+155_*791+187dup) c.*687+155_*687+187dup (n.*687+155_*687+187dup) c.1030+155_1030+187dup (n.1030+155_1030+187dup) c.*1218+155_*1218+187dup (n.*1218+155_*1218+187dup) c.880+155_880+187dup (n.880+155_880+187dup) c.*1068+155_*1068+187dup (n.*1068+155_*1068+187dup) c.*909+155_*909+187dup (n.*909+155_*909+187dup) c.*569+155_*569+187dup (n.*569+155_*569+187dup) c.1156+155_1156+187dup (n.1156+155_1156+187dup) c.*597+155_*597+187dup (n.*597+155_*597+187dup) n.1527+155_1527+187dup n.2840+155_2840+187dup n.340+155_340+187dup n.2128+155_2128+187dup n.1264+155_1264+187dup c.1018+155_1018+187dup (n.1018+155_1018+187dup) c.853+155_853+187dup (n.853+155_853+187dup) c.1221+155_1221+187dup (n.1221+155_1221+187dup) c.1209+155_1209+187dup (n.1209+155_1209+187dup) n.494+155_494+187dup c.956-5029_956-4997dup (n.956-5029_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212096_73212129dup | CA964614723 | PSEN1 | c.1117+154_1117+187dup (n.1117+154_1117+187dup) c.1129+154_1129+187dup (n.1129+154_1129+187dup) n.1879+154_1879+187dup c.*84+154_*84+187dup (n.*84+154_*84+187dup) n.1555+154_1555+187dup c.1009+154_1009+187dup (n.1009+154_1009+187dup) c.*1073+154_*1073+187dup (n.*1073+154_*1073+187dup) n.6679+154_6679+187dup c.*1341+154_*1341+187dup (n.*1341+154_*1341+187dup) c.944-5030_944-4997dup (n.944-5030_944-4997dup) c.1172+111_1172+144dup (n.1172+111_1172+144dup) c.*791+154_*791+187dup (n.*791+154_*791+187dup) c.*687+154_*687+187dup (n.*687+154_*687+187dup) c.1030+154_1030+187dup (n.1030+154_1030+187dup) c.*1218+154_*1218+187dup (n.*1218+154_*1218+187dup) c.880+154_880+187dup (n.880+154_880+187dup) c.*1068+154_*1068+187dup (n.*1068+154_*1068+187dup) c.*909+154_*909+187dup (n.*909+154_*909+187dup) c.*569+154_*569+187dup (n.*569+154_*569+187dup) c.1156+154_1156+187dup (n.1156+154_1156+187dup) c.*597+154_*597+187dup (n.*597+154_*597+187dup) n.1527+154_1527+187dup n.2840+154_2840+187dup n.340+154_340+187dup n.2128+154_2128+187dup n.1264+154_1264+187dup c.1018+154_1018+187dup (n.1018+154_1018+187dup) c.853+154_853+187dup (n.853+154_853+187dup) c.1221+154_1221+187dup (n.1221+154_1221+187dup) c.1209+154_1209+187dup (n.1209+154_1209+187dup) n.494+154_494+187dup c.956-5030_956-4997dup (n.956-5030_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212095_73212129dup | CA964614719 | PSEN1 | c.1117+153_1117+187dup (n.1117+153_1117+187dup) c.1129+153_1129+187dup (n.1129+153_1129+187dup) n.1879+153_1879+187dup c.*84+153_*84+187dup (n.*84+153_*84+187dup) n.1555+153_1555+187dup c.1009+153_1009+187dup (n.1009+153_1009+187dup) c.*1073+153_*1073+187dup (n.*1073+153_*1073+187dup) n.6679+153_6679+187dup c.*1341+153_*1341+187dup (n.*1341+153_*1341+187dup) c.944-5031_944-4997dup (n.944-5031_944-4997dup) c.1172+110_1172+144dup (n.1172+110_1172+144dup) c.*791+153_*791+187dup (n.*791+153_*791+187dup) c.*687+153_*687+187dup (n.*687+153_*687+187dup) c.1030+153_1030+187dup (n.1030+153_1030+187dup) c.*1218+153_*1218+187dup (n.*1218+153_*1218+187dup) c.880+153_880+187dup (n.880+153_880+187dup) c.*1068+153_*1068+187dup (n.*1068+153_*1068+187dup) c.*909+153_*909+187dup (n.*909+153_*909+187dup) c.*569+153_*569+187dup (n.*569+153_*569+187dup) c.1156+153_1156+187dup (n.1156+153_1156+187dup) c.*597+153_*597+187dup (n.*597+153_*597+187dup) n.1527+153_1527+187dup n.2840+153_2840+187dup n.340+153_340+187dup n.2128+153_2128+187dup n.1264+153_1264+187dup c.1018+153_1018+187dup (n.1018+153_1018+187dup) c.853+153_853+187dup (n.853+153_853+187dup) c.1221+153_1221+187dup (n.1221+153_1221+187dup) c.1209+153_1209+187dup (n.1209+153_1209+187dup) n.494+153_494+187dup c.956-5031_956-4997dup (n.956-5031_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212094_73212129dup | CA964614716 | PSEN1 | c.1117+152_1117+187dup (n.1117+152_1117+187dup) c.1129+152_1129+187dup (n.1129+152_1129+187dup) n.1879+152_1879+187dup c.*84+152_*84+187dup (n.*84+152_*84+187dup) n.1555+152_1555+187dup c.1009+152_1009+187dup (n.1009+152_1009+187dup) c.*1073+152_*1073+187dup (n.*1073+152_*1073+187dup) n.6679+152_6679+187dup c.*1341+152_*1341+187dup (n.*1341+152_*1341+187dup) c.944-5032_944-4997dup (n.944-5032_944-4997dup) c.1172+109_1172+144dup (n.1172+109_1172+144dup) c.*791+152_*791+187dup (n.*791+152_*791+187dup) c.*687+152_*687+187dup (n.*687+152_*687+187dup) c.1030+152_1030+187dup (n.1030+152_1030+187dup) c.*1218+152_*1218+187dup (n.*1218+152_*1218+187dup) c.880+152_880+187dup (n.880+152_880+187dup) c.*1068+152_*1068+187dup (n.*1068+152_*1068+187dup) c.*909+152_*909+187dup (n.*909+152_*909+187dup) c.*569+152_*569+187dup (n.*569+152_*569+187dup) c.1156+152_1156+187dup (n.1156+152_1156+187dup) c.*597+152_*597+187dup (n.*597+152_*597+187dup) n.1527+152_1527+187dup n.2840+152_2840+187dup n.340+152_340+187dup n.2128+152_2128+187dup n.1264+152_1264+187dup c.1018+152_1018+187dup (n.1018+152_1018+187dup) c.853+152_853+187dup (n.853+152_853+187dup) c.1221+152_1221+187dup (n.1221+152_1221+187dup) c.1209+152_1209+187dup (n.1209+152_1209+187dup) n.494+152_494+187dup c.956-5032_956-4997dup (n.956-5032_956-4997dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212093_73212129dup | CA964614713 | PSEN1 | c.1117+151_1117+187dup (n.1117+151_1117+187dup) c.1129+151_1129+187dup (n.1129+151_1129+187dup) n.1879+151_1879+187dup c.*84+151_*84+187dup (n.*84+151_*84+187dup) n.1555+151_1555+187dup c.1009+151_1009+187dup (n.1009+151_1009+187dup) c.*1073+151_*1073+187dup (n.*1073+151_*1073+187dup) n.6679+151_6679+187dup c.*1341+151_*1341+187dup (n.*1341+151_*1341+187dup) c.944-5033_944-4997dup (n.944-5033_944-4997dup) c.1172+108_1172+144dup (n.1172+108_1172+144dup) c.*791+151_*791+187dup (n.*791+151_*791+187dup) c.*687+151_*687+187dup (n.*687+151_*687+187dup) c.1030+151_1030+187dup (n.1030+151_1030+187dup) c.*1218+151_*1218+187dup (n.*1218+151_*1218+187dup) c.880+151_880+187dup (n.880+151_880+187dup) c.*1068+151_*1068+187dup (n.*1068+151_*1068+187dup) c.*909+151_*909+187dup (n.*909+151_*909+187dup) c.*569+151_*569+187dup (n.*569+151_*569+187dup) c.1156+151_1156+187dup (n.1156+151_1156+187dup) c.*597+151_*597+187dup (n.*597+151_*597+187dup) n.1527+151_1527+187dup n.2840+151_2840+187dup n.340+151_340+187dup n.2128+151_2128+187dup n.1264+151_1264+187dup c.1018+151_1018+187dup (n.1018+151_1018+187dup) c.853+151_853+187dup (n.853+151_853+187dup) c.1221+151_1221+187dup (n.1221+151_1221+187dup) c.1209+151_1209+187dup (n.1209+151_1209+187dup) n.494+151_494+187dup c.956-5033_956-4997dup (n.956-5033_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212129dup | CA964614709 | PSEN1 | c.1117+150_1117+187dup (n.1117+150_1117+187dup) c.1129+150_1129+187dup (n.1129+150_1129+187dup) n.1879+150_1879+187dup c.*84+150_*84+187dup (n.*84+150_*84+187dup) n.1555+150_1555+187dup c.1009+150_1009+187dup (n.1009+150_1009+187dup) c.*1073+150_*1073+187dup (n.*1073+150_*1073+187dup) n.6679+150_6679+187dup c.*1341+150_*1341+187dup (n.*1341+150_*1341+187dup) c.944-5034_944-4997dup (n.944-5034_944-4997dup) c.1172+107_1172+144dup (n.1172+107_1172+144dup) c.*791+150_*791+187dup (n.*791+150_*791+187dup) c.*687+150_*687+187dup (n.*687+150_*687+187dup) c.1030+150_1030+187dup (n.1030+150_1030+187dup) c.*1218+150_*1218+187dup (n.*1218+150_*1218+187dup) c.880+150_880+187dup (n.880+150_880+187dup) c.*1068+150_*1068+187dup (n.*1068+150_*1068+187dup) c.*909+150_*909+187dup (n.*909+150_*909+187dup) c.*569+150_*569+187dup (n.*569+150_*569+187dup) c.1156+150_1156+187dup (n.1156+150_1156+187dup) c.*597+150_*597+187dup (n.*597+150_*597+187dup) n.1527+150_1527+187dup n.2840+150_2840+187dup n.340+150_340+187dup n.2128+150_2128+187dup n.1264+150_1264+187dup c.1018+150_1018+187dup (n.1018+150_1018+187dup) c.853+150_853+187dup (n.853+150_853+187dup) c.1221+150_1221+187dup (n.1221+150_1221+187dup) c.1209+150_1209+187dup (n.1209+150_1209+187dup) n.494+150_494+187dup c.956-5034_956-4997dup (n.956-5034_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212091_73212129dup | CA964614701 | PSEN1 | c.1117+149_1117+187dup (n.1117+149_1117+187dup) c.1129+149_1129+187dup (n.1129+149_1129+187dup) n.1879+149_1879+187dup c.*84+149_*84+187dup (n.*84+149_*84+187dup) n.1555+149_1555+187dup c.1009+149_1009+187dup (n.1009+149_1009+187dup) c.*1073+149_*1073+187dup (n.*1073+149_*1073+187dup) n.6679+149_6679+187dup c.*1341+149_*1341+187dup (n.*1341+149_*1341+187dup) c.944-5035_944-4997dup (n.944-5035_944-4997dup) c.1172+106_1172+144dup (n.1172+106_1172+144dup) c.*791+149_*791+187dup (n.*791+149_*791+187dup) c.*687+149_*687+187dup (n.*687+149_*687+187dup) c.1030+149_1030+187dup (n.1030+149_1030+187dup) c.*1218+149_*1218+187dup (n.*1218+149_*1218+187dup) c.880+149_880+187dup (n.880+149_880+187dup) c.*1068+149_*1068+187dup (n.*1068+149_*1068+187dup) c.*909+149_*909+187dup (n.*909+149_*909+187dup) c.*569+149_*569+187dup (n.*569+149_*569+187dup) c.1156+149_1156+187dup (n.1156+149_1156+187dup) c.*597+149_*597+187dup (n.*597+149_*597+187dup) n.1527+149_1527+187dup n.2840+149_2840+187dup n.340+149_340+187dup n.2128+149_2128+187dup n.1264+149_1264+187dup c.1018+149_1018+187dup (n.1018+149_1018+187dup) c.853+149_853+187dup (n.853+149_853+187dup) c.1221+149_1221+187dup (n.1221+149_1221+187dup) c.1209+149_1209+187dup (n.1209+149_1209+187dup) n.494+149_494+187dup c.956-5035_956-4997dup (n.956-5035_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212090_73212129dup | CA964614667 | PSEN1 | c.1117+148_1117+187dup (n.1117+148_1117+187dup) c.1129+148_1129+187dup (n.1129+148_1129+187dup) n.1879+148_1879+187dup c.*84+148_*84+187dup (n.*84+148_*84+187dup) n.1555+148_1555+187dup c.1009+148_1009+187dup (n.1009+148_1009+187dup) c.*1073+148_*1073+187dup (n.*1073+148_*1073+187dup) n.6679+148_6679+187dup c.*1341+148_*1341+187dup (n.*1341+148_*1341+187dup) c.944-5036_944-4997dup (n.944-5036_944-4997dup) c.1172+105_1172+144dup (n.1172+105_1172+144dup) c.*791+148_*791+187dup (n.*791+148_*791+187dup) c.*687+148_*687+187dup (n.*687+148_*687+187dup) c.1030+148_1030+187dup (n.1030+148_1030+187dup) c.*1218+148_*1218+187dup (n.*1218+148_*1218+187dup) c.880+148_880+187dup (n.880+148_880+187dup) c.*1068+148_*1068+187dup (n.*1068+148_*1068+187dup) c.*909+148_*909+187dup (n.*909+148_*909+187dup) c.*569+148_*569+187dup (n.*569+148_*569+187dup) c.1156+148_1156+187dup (n.1156+148_1156+187dup) c.*597+148_*597+187dup (n.*597+148_*597+187dup) n.1527+148_1527+187dup n.2840+148_2840+187dup n.340+148_340+187dup n.2128+148_2128+187dup n.1264+148_1264+187dup c.1018+148_1018+187dup (n.1018+148_1018+187dup) c.853+148_853+187dup (n.853+148_853+187dup) c.1221+148_1221+187dup (n.1221+148_1221+187dup) c.1209+148_1209+187dup (n.1209+148_1209+187dup) n.494+148_494+187dup c.956-5036_956-4997dup (n.956-5036_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212089_73212129dup | CA964614670 | PSEN1 | c.1117+147_1117+187dup (n.1117+147_1117+187dup) c.1129+147_1129+187dup (n.1129+147_1129+187dup) n.1879+147_1879+187dup c.*84+147_*84+187dup (n.*84+147_*84+187dup) n.1555+147_1555+187dup c.1009+147_1009+187dup (n.1009+147_1009+187dup) c.*1073+147_*1073+187dup (n.*1073+147_*1073+187dup) n.6679+147_6679+187dup c.*1341+147_*1341+187dup (n.*1341+147_*1341+187dup) c.944-5037_944-4997dup (n.944-5037_944-4997dup) c.1172+104_1172+144dup (n.1172+104_1172+144dup) c.*791+147_*791+187dup (n.*791+147_*791+187dup) c.*687+147_*687+187dup (n.*687+147_*687+187dup) c.1030+147_1030+187dup (n.1030+147_1030+187dup) c.*1218+147_*1218+187dup (n.*1218+147_*1218+187dup) c.880+147_880+187dup (n.880+147_880+187dup) c.*1068+147_*1068+187dup (n.*1068+147_*1068+187dup) c.*909+147_*909+187dup (n.*909+147_*909+187dup) c.*569+147_*569+187dup (n.*569+147_*569+187dup) c.1156+147_1156+187dup (n.1156+147_1156+187dup) c.*597+147_*597+187dup (n.*597+147_*597+187dup) n.1527+147_1527+187dup n.2840+147_2840+187dup n.340+147_340+187dup n.2128+147_2128+187dup n.1264+147_1264+187dup c.1018+147_1018+187dup (n.1018+147_1018+187dup) c.853+147_853+187dup (n.853+147_853+187dup) c.1221+147_1221+187dup (n.1221+147_1221+187dup) c.1209+147_1209+187dup (n.1209+147_1209+187dup) n.494+147_494+187dup c.956-5037_956-4997dup (n.956-5037_956-4997dup) | gnomAD v3 gnomAD v4 |
14 | g.73212129del | CA708388931 | PSEN1 | c.1117+187del (n.1117+187del) c.1129+187del (n.1129+187del) n.1879+187del c.*84+187del (n.*84+187del) n.1555+187del c.1009+187del (n.1009+187del) c.*1073+187del (n.*1073+187del) n.6679+187del c.*1341+187del (n.*1341+187del) c.944-4997del (n.944-4997del) c.1172+144del (n.1172+144del) c.*791+187del (n.*791+187del) c.*687+187del (n.*687+187del) c.1030+187del (n.1030+187del) c.*1218+187del (n.*1218+187del) c.880+187del (n.880+187del) c.*1068+187del (n.*1068+187del) c.*909+187del (n.*909+187del) c.*569+187del (n.*569+187del) c.1156+187del (n.1156+187del) c.*597+187del (n.*597+187del) n.1527+187del n.2840+187del n.340+187del n.2128+187del n.1264+187del c.1018+187del (n.1018+187del) c.853+187del (n.853+187del) c.1221+187del (n.1221+187del) c.1209+187del (n.1209+187del) n.494+187del c.956-4997del (n.956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212128_73212129del | CA708388935 | PSEN1 | c.1117+186_1117+187del (n.1117+186_1117+187del) c.1129+186_1129+187del (n.1129+186_1129+187del) n.1879+186_1879+187del c.*84+186_*84+187del (n.*84+186_*84+187del) n.1555+186_1555+187del c.1009+186_1009+187del (n.1009+186_1009+187del) c.*1073+186_*1073+187del (n.*1073+186_*1073+187del) n.6679+186_6679+187del c.*1341+186_*1341+187del (n.*1341+186_*1341+187del) c.944-4998_944-4997del (n.944-4998_944-4997del) c.1172+143_1172+144del (n.1172+143_1172+144del) c.*791+186_*791+187del (n.*791+186_*791+187del) c.*687+186_*687+187del (n.*687+186_*687+187del) c.1030+186_1030+187del (n.1030+186_1030+187del) c.*1218+186_*1218+187del (n.*1218+186_*1218+187del) c.880+186_880+187del (n.880+186_880+187del) c.*1068+186_*1068+187del (n.*1068+186_*1068+187del) c.*909+186_*909+187del (n.*909+186_*909+187del) c.*569+186_*569+187del (n.*569+186_*569+187del) c.1156+186_1156+187del (n.1156+186_1156+187del) c.*597+186_*597+187del (n.*597+186_*597+187del) n.1527+186_1527+187del n.2840+186_2840+187del n.340+186_340+187del n.2128+186_2128+187del n.1264+186_1264+187del c.1018+186_1018+187del (n.1018+186_1018+187del) c.853+186_853+187del (n.853+186_853+187del) c.1221+186_1221+187del (n.1221+186_1221+187del) c.1209+186_1209+187del (n.1209+186_1209+187del) n.494+186_494+187del c.956-4998_956-4997del (n.956-4998_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212127_73212129del | CA708388936 | PSEN1 | c.1117+185_1117+187del (n.1117+185_1117+187del) c.1129+185_1129+187del (n.1129+185_1129+187del) n.1879+185_1879+187del c.*84+185_*84+187del (n.*84+185_*84+187del) n.1555+185_1555+187del c.1009+185_1009+187del (n.1009+185_1009+187del) c.*1073+185_*1073+187del (n.*1073+185_*1073+187del) n.6679+185_6679+187del c.*1341+185_*1341+187del (n.*1341+185_*1341+187del) c.944-4999_944-4997del (n.944-4999_944-4997del) c.1172+142_1172+144del (n.1172+142_1172+144del) c.*791+185_*791+187del (n.*791+185_*791+187del) c.*687+185_*687+187del (n.*687+185_*687+187del) c.1030+185_1030+187del (n.1030+185_1030+187del) c.*1218+185_*1218+187del (n.*1218+185_*1218+187del) c.880+185_880+187del (n.880+185_880+187del) c.*1068+185_*1068+187del (n.*1068+185_*1068+187del) c.*909+185_*909+187del (n.*909+185_*909+187del) c.*569+185_*569+187del (n.*569+185_*569+187del) c.1156+185_1156+187del (n.1156+185_1156+187del) c.*597+185_*597+187del (n.*597+185_*597+187del) n.1527+185_1527+187del n.2840+185_2840+187del n.340+185_340+187del n.2128+185_2128+187del n.1264+185_1264+187del c.1018+185_1018+187del (n.1018+185_1018+187del) c.853+185_853+187del (n.853+185_853+187del) c.1221+185_1221+187del (n.1221+185_1221+187del) c.1209+185_1209+187del (n.1209+185_1209+187del) n.494+185_494+187del c.956-4999_956-4997del (n.956-4999_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212126_73212129del | CA708388937 | PSEN1 | c.1117+184_1117+187del (n.1117+184_1117+187del) c.1129+184_1129+187del (n.1129+184_1129+187del) n.1879+184_1879+187del c.*84+184_*84+187del (n.*84+184_*84+187del) n.1555+184_1555+187del c.1009+184_1009+187del (n.1009+184_1009+187del) c.*1073+184_*1073+187del (n.*1073+184_*1073+187del) n.6679+184_6679+187del c.*1341+184_*1341+187del (n.*1341+184_*1341+187del) c.944-5000_944-4997del (n.944-5000_944-4997del) c.1172+141_1172+144del (n.1172+141_1172+144del) c.*791+184_*791+187del (n.*791+184_*791+187del) c.*687+184_*687+187del (n.*687+184_*687+187del) c.1030+184_1030+187del (n.1030+184_1030+187del) c.*1218+184_*1218+187del (n.*1218+184_*1218+187del) c.880+184_880+187del (n.880+184_880+187del) c.*1068+184_*1068+187del (n.*1068+184_*1068+187del) c.*909+184_*909+187del (n.*909+184_*909+187del) c.*569+184_*569+187del (n.*569+184_*569+187del) c.1156+184_1156+187del (n.1156+184_1156+187del) c.*597+184_*597+187del (n.*597+184_*597+187del) n.1527+184_1527+187del n.2840+184_2840+187del n.340+184_340+187del n.2128+184_2128+187del n.1264+184_1264+187del c.1018+184_1018+187del (n.1018+184_1018+187del) c.853+184_853+187del (n.853+184_853+187del) c.1221+184_1221+187del (n.1221+184_1221+187del) c.1209+184_1209+187del (n.1209+184_1209+187del) n.494+184_494+187del c.956-5000_956-4997del (n.956-5000_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212125_73212129del | CA708388932 | PSEN1 | c.1117+183_1117+187del (n.1117+183_1117+187del) c.1129+183_1129+187del (n.1129+183_1129+187del) n.1879+183_1879+187del c.*84+183_*84+187del (n.*84+183_*84+187del) n.1555+183_1555+187del c.1009+183_1009+187del (n.1009+183_1009+187del) c.*1073+183_*1073+187del (n.*1073+183_*1073+187del) n.6679+183_6679+187del c.*1341+183_*1341+187del (n.*1341+183_*1341+187del) c.944-5001_944-4997del (n.944-5001_944-4997del) c.1172+140_1172+144del (n.1172+140_1172+144del) c.*791+183_*791+187del (n.*791+183_*791+187del) c.*687+183_*687+187del (n.*687+183_*687+187del) c.1030+183_1030+187del (n.1030+183_1030+187del) c.*1218+183_*1218+187del (n.*1218+183_*1218+187del) c.880+183_880+187del (n.880+183_880+187del) c.*1068+183_*1068+187del (n.*1068+183_*1068+187del) c.*909+183_*909+187del (n.*909+183_*909+187del) c.*569+183_*569+187del (n.*569+183_*569+187del) c.1156+183_1156+187del (n.1156+183_1156+187del) c.*597+183_*597+187del (n.*597+183_*597+187del) n.1527+183_1527+187del n.2840+183_2840+187del n.340+183_340+187del n.2128+183_2128+187del n.1264+183_1264+187del c.1018+183_1018+187del (n.1018+183_1018+187del) c.853+183_853+187del (n.853+183_853+187del) c.1221+183_1221+187del (n.1221+183_1221+187del) c.1209+183_1209+187del (n.1209+183_1209+187del) n.494+183_494+187del c.956-5001_956-4997del (n.956-5001_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212124_73212129del | CA708388938 | PSEN1 | c.1117+182_1117+187del (n.1117+182_1117+187del) c.1129+182_1129+187del (n.1129+182_1129+187del) n.1879+182_1879+187del c.*84+182_*84+187del (n.*84+182_*84+187del) n.1555+182_1555+187del c.1009+182_1009+187del (n.1009+182_1009+187del) c.*1073+182_*1073+187del (n.*1073+182_*1073+187del) n.6679+182_6679+187del c.*1341+182_*1341+187del (n.*1341+182_*1341+187del) c.944-5002_944-4997del (n.944-5002_944-4997del) c.1172+139_1172+144del (n.1172+139_1172+144del) c.*791+182_*791+187del (n.*791+182_*791+187del) c.*687+182_*687+187del (n.*687+182_*687+187del) c.1030+182_1030+187del (n.1030+182_1030+187del) c.*1218+182_*1218+187del (n.*1218+182_*1218+187del) c.880+182_880+187del (n.880+182_880+187del) c.*1068+182_*1068+187del (n.*1068+182_*1068+187del) c.*909+182_*909+187del (n.*909+182_*909+187del) c.*569+182_*569+187del (n.*569+182_*569+187del) c.1156+182_1156+187del (n.1156+182_1156+187del) c.*597+182_*597+187del (n.*597+182_*597+187del) n.1527+182_1527+187del n.2840+182_2840+187del n.340+182_340+187del n.2128+182_2128+187del n.1264+182_1264+187del c.1018+182_1018+187del (n.1018+182_1018+187del) c.853+182_853+187del (n.853+182_853+187del) c.1221+182_1221+187del (n.1221+182_1221+187del) c.1209+182_1209+187del (n.1209+182_1209+187del) n.494+182_494+187del c.956-5002_956-4997del (n.956-5002_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212123_73212129del | CA262618858 | PSEN1 | c.1117+181_1117+187del (n.1117+181_1117+187del) c.1129+181_1129+187del (n.1129+181_1129+187del) n.1879+181_1879+187del c.*84+181_*84+187del (n.*84+181_*84+187del) n.1555+181_1555+187del c.1009+181_1009+187del (n.1009+181_1009+187del) c.*1073+181_*1073+187del (n.*1073+181_*1073+187del) n.6679+181_6679+187del c.*1341+181_*1341+187del (n.*1341+181_*1341+187del) c.944-5003_944-4997del (n.944-5003_944-4997del) c.1172+138_1172+144del (n.1172+138_1172+144del) c.*791+181_*791+187del (n.*791+181_*791+187del) c.*687+181_*687+187del (n.*687+181_*687+187del) c.1030+181_1030+187del (n.1030+181_1030+187del) c.*1218+181_*1218+187del (n.*1218+181_*1218+187del) c.880+181_880+187del (n.880+181_880+187del) c.*1068+181_*1068+187del (n.*1068+181_*1068+187del) c.*909+181_*909+187del (n.*909+181_*909+187del) c.*569+181_*569+187del (n.*569+181_*569+187del) c.1156+181_1156+187del (n.1156+181_1156+187del) c.*597+181_*597+187del (n.*597+181_*597+187del) n.1527+181_1527+187del n.2840+181_2840+187del n.340+181_340+187del n.2128+181_2128+187del n.1264+181_1264+187del c.1018+181_1018+187del (n.1018+181_1018+187del) c.853+181_853+187del (n.853+181_853+187del) c.1221+181_1221+187del (n.1221+181_1221+187del) c.1209+181_1209+187del (n.1209+181_1209+187del) n.494+181_494+187del c.956-5003_956-4997del (n.956-5003_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212122_73212129del | CA708388939 | PSEN1 | c.1117+180_1117+187del (n.1117+180_1117+187del) c.1129+180_1129+187del (n.1129+180_1129+187del) n.1879+180_1879+187del c.*84+180_*84+187del (n.*84+180_*84+187del) n.1555+180_1555+187del c.1009+180_1009+187del (n.1009+180_1009+187del) c.*1073+180_*1073+187del (n.*1073+180_*1073+187del) n.6679+180_6679+187del c.*1341+180_*1341+187del (n.*1341+180_*1341+187del) c.944-5004_944-4997del (n.944-5004_944-4997del) c.1172+137_1172+144del (n.1172+137_1172+144del) c.*791+180_*791+187del (n.*791+180_*791+187del) c.*687+180_*687+187del (n.*687+180_*687+187del) c.1030+180_1030+187del (n.1030+180_1030+187del) c.*1218+180_*1218+187del (n.*1218+180_*1218+187del) c.880+180_880+187del (n.880+180_880+187del) c.*1068+180_*1068+187del (n.*1068+180_*1068+187del) c.*909+180_*909+187del (n.*909+180_*909+187del) c.*569+180_*569+187del (n.*569+180_*569+187del) c.1156+180_1156+187del (n.1156+180_1156+187del) c.*597+180_*597+187del (n.*597+180_*597+187del) n.1527+180_1527+187del n.2840+180_2840+187del n.340+180_340+187del n.2128+180_2128+187del n.1264+180_1264+187del c.1018+180_1018+187del (n.1018+180_1018+187del) c.853+180_853+187del (n.853+180_853+187del) c.1221+180_1221+187del (n.1221+180_1221+187del) c.1209+180_1209+187del (n.1209+180_1209+187del) n.494+180_494+187del c.956-5004_956-4997del (n.956-5004_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212121_73212129del | CA708388940 | PSEN1 | c.1117+179_1117+187del (n.1117+179_1117+187del) c.1129+179_1129+187del (n.1129+179_1129+187del) n.1879+179_1879+187del c.*84+179_*84+187del (n.*84+179_*84+187del) n.1555+179_1555+187del c.1009+179_1009+187del (n.1009+179_1009+187del) c.*1073+179_*1073+187del (n.*1073+179_*1073+187del) n.6679+179_6679+187del c.*1341+179_*1341+187del (n.*1341+179_*1341+187del) c.944-5005_944-4997del (n.944-5005_944-4997del) c.1172+136_1172+144del (n.1172+136_1172+144del) c.*791+179_*791+187del (n.*791+179_*791+187del) c.*687+179_*687+187del (n.*687+179_*687+187del) c.1030+179_1030+187del (n.1030+179_1030+187del) c.*1218+179_*1218+187del (n.*1218+179_*1218+187del) c.880+179_880+187del (n.880+179_880+187del) c.*1068+179_*1068+187del (n.*1068+179_*1068+187del) c.*909+179_*909+187del (n.*909+179_*909+187del) c.*569+179_*569+187del (n.*569+179_*569+187del) c.1156+179_1156+187del (n.1156+179_1156+187del) c.*597+179_*597+187del (n.*597+179_*597+187del) n.1527+179_1527+187del n.2840+179_2840+187del n.340+179_340+187del n.2128+179_2128+187del n.1264+179_1264+187del c.1018+179_1018+187del (n.1018+179_1018+187del) c.853+179_853+187del (n.853+179_853+187del) c.1221+179_1221+187del (n.1221+179_1221+187del) c.1209+179_1209+187del (n.1209+179_1209+187del) n.494+179_494+187del c.956-5005_956-4997del (n.956-5005_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212120_73212129del | CA964614792 | PSEN1 | c.1117+178_1117+187del (n.1117+178_1117+187del) c.1129+178_1129+187del (n.1129+178_1129+187del) n.1879+178_1879+187del c.*84+178_*84+187del (n.*84+178_*84+187del) n.1555+178_1555+187del c.1009+178_1009+187del (n.1009+178_1009+187del) c.*1073+178_*1073+187del (n.*1073+178_*1073+187del) n.6679+178_6679+187del c.*1341+178_*1341+187del (n.*1341+178_*1341+187del) c.944-5006_944-4997del (n.944-5006_944-4997del) c.1172+135_1172+144del (n.1172+135_1172+144del) c.*791+178_*791+187del (n.*791+178_*791+187del) c.*687+178_*687+187del (n.*687+178_*687+187del) c.1030+178_1030+187del (n.1030+178_1030+187del) c.*1218+178_*1218+187del (n.*1218+178_*1218+187del) c.880+178_880+187del (n.880+178_880+187del) c.*1068+178_*1068+187del (n.*1068+178_*1068+187del) c.*909+178_*909+187del (n.*909+178_*909+187del) c.*569+178_*569+187del (n.*569+178_*569+187del) c.1156+178_1156+187del (n.1156+178_1156+187del) c.*597+178_*597+187del (n.*597+178_*597+187del) n.1527+178_1527+187del n.2840+178_2840+187del n.340+178_340+187del n.2128+178_2128+187del n.1264+178_1264+187del c.1018+178_1018+187del (n.1018+178_1018+187del) c.853+178_853+187del (n.853+178_853+187del) c.1221+178_1221+187del (n.1221+178_1221+187del) c.1209+178_1209+187del (n.1209+178_1209+187del) n.494+178_494+187del c.956-5006_956-4997del (n.956-5006_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212119_73212129del | CA708388942 | PSEN1 | c.1117+177_1117+187del (n.1117+177_1117+187del) c.1129+177_1129+187del (n.1129+177_1129+187del) n.1879+177_1879+187del c.*84+177_*84+187del (n.*84+177_*84+187del) n.1555+177_1555+187del c.1009+177_1009+187del (n.1009+177_1009+187del) c.*1073+177_*1073+187del (n.*1073+177_*1073+187del) n.6679+177_6679+187del c.*1341+177_*1341+187del (n.*1341+177_*1341+187del) c.944-5007_944-4997del (n.944-5007_944-4997del) c.1172+134_1172+144del (n.1172+134_1172+144del) c.*791+177_*791+187del (n.*791+177_*791+187del) c.*687+177_*687+187del (n.*687+177_*687+187del) c.1030+177_1030+187del (n.1030+177_1030+187del) c.*1218+177_*1218+187del (n.*1218+177_*1218+187del) c.880+177_880+187del (n.880+177_880+187del) c.*1068+177_*1068+187del (n.*1068+177_*1068+187del) c.*909+177_*909+187del (n.*909+177_*909+187del) c.*569+177_*569+187del (n.*569+177_*569+187del) c.1156+177_1156+187del (n.1156+177_1156+187del) c.*597+177_*597+187del (n.*597+177_*597+187del) n.1527+177_1527+187del n.2840+177_2840+187del n.340+177_340+187del n.2128+177_2128+187del n.1264+177_1264+187del c.1018+177_1018+187del (n.1018+177_1018+187del) c.853+177_853+187del (n.853+177_853+187del) c.1221+177_1221+187del (n.1221+177_1221+187del) c.1209+177_1209+187del (n.1209+177_1209+187del) n.494+177_494+187del c.956-5007_956-4997del (n.956-5007_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212118_73212129del | CA708388943 | PSEN1 | c.1117+176_1117+187del (n.1117+176_1117+187del) c.1129+176_1129+187del (n.1129+176_1129+187del) n.1879+176_1879+187del c.*84+176_*84+187del (n.*84+176_*84+187del) n.1555+176_1555+187del c.1009+176_1009+187del (n.1009+176_1009+187del) c.*1073+176_*1073+187del (n.*1073+176_*1073+187del) n.6679+176_6679+187del c.*1341+176_*1341+187del (n.*1341+176_*1341+187del) c.944-5008_944-4997del (n.944-5008_944-4997del) c.1172+133_1172+144del (n.1172+133_1172+144del) c.*791+176_*791+187del (n.*791+176_*791+187del) c.*687+176_*687+187del (n.*687+176_*687+187del) c.1030+176_1030+187del (n.1030+176_1030+187del) c.*1218+176_*1218+187del (n.*1218+176_*1218+187del) c.880+176_880+187del (n.880+176_880+187del) c.*1068+176_*1068+187del (n.*1068+176_*1068+187del) c.*909+176_*909+187del (n.*909+176_*909+187del) c.*569+176_*569+187del (n.*569+176_*569+187del) c.1156+176_1156+187del (n.1156+176_1156+187del) c.*597+176_*597+187del (n.*597+176_*597+187del) n.1527+176_1527+187del n.2840+176_2840+187del n.340+176_340+187del n.2128+176_2128+187del n.1264+176_1264+187del c.1018+176_1018+187del (n.1018+176_1018+187del) c.853+176_853+187del (n.853+176_853+187del) c.1221+176_1221+187del (n.1221+176_1221+187del) c.1209+176_1209+187del (n.1209+176_1209+187del) n.494+176_494+187del c.956-5008_956-4997del (n.956-5008_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212117_73212129del | CA708388945 | PSEN1 | c.1117+175_1117+187del (n.1117+175_1117+187del) c.1129+175_1129+187del (n.1129+175_1129+187del) n.1879+175_1879+187del c.*84+175_*84+187del (n.*84+175_*84+187del) n.1555+175_1555+187del c.1009+175_1009+187del (n.1009+175_1009+187del) c.*1073+175_*1073+187del (n.*1073+175_*1073+187del) n.6679+175_6679+187del c.*1341+175_*1341+187del (n.*1341+175_*1341+187del) c.944-5009_944-4997del (n.944-5009_944-4997del) c.1172+132_1172+144del (n.1172+132_1172+144del) c.*791+175_*791+187del (n.*791+175_*791+187del) c.*687+175_*687+187del (n.*687+175_*687+187del) c.1030+175_1030+187del (n.1030+175_1030+187del) c.*1218+175_*1218+187del (n.*1218+175_*1218+187del) c.880+175_880+187del (n.880+175_880+187del) c.*1068+175_*1068+187del (n.*1068+175_*1068+187del) c.*909+175_*909+187del (n.*909+175_*909+187del) c.*569+175_*569+187del (n.*569+175_*569+187del) c.1156+175_1156+187del (n.1156+175_1156+187del) c.*597+175_*597+187del (n.*597+175_*597+187del) n.1527+175_1527+187del n.2840+175_2840+187del n.340+175_340+187del n.2128+175_2128+187del n.1264+175_1264+187del c.1018+175_1018+187del (n.1018+175_1018+187del) c.853+175_853+187del (n.853+175_853+187del) c.1221+175_1221+187del (n.1221+175_1221+187del) c.1209+175_1209+187del (n.1209+175_1209+187del) n.494+175_494+187del c.956-5009_956-4997del (n.956-5009_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212116_73212129del | CA708388947 | PSEN1 | c.1117+174_1117+187del (n.1117+174_1117+187del) c.1129+174_1129+187del (n.1129+174_1129+187del) n.1879+174_1879+187del c.*84+174_*84+187del (n.*84+174_*84+187del) n.1555+174_1555+187del c.1009+174_1009+187del (n.1009+174_1009+187del) c.*1073+174_*1073+187del (n.*1073+174_*1073+187del) n.6679+174_6679+187del c.*1341+174_*1341+187del (n.*1341+174_*1341+187del) c.944-5010_944-4997del (n.944-5010_944-4997del) c.1172+131_1172+144del (n.1172+131_1172+144del) c.*791+174_*791+187del (n.*791+174_*791+187del) c.*687+174_*687+187del (n.*687+174_*687+187del) c.1030+174_1030+187del (n.1030+174_1030+187del) c.*1218+174_*1218+187del (n.*1218+174_*1218+187del) c.880+174_880+187del (n.880+174_880+187del) c.*1068+174_*1068+187del (n.*1068+174_*1068+187del) c.*909+174_*909+187del (n.*909+174_*909+187del) c.*569+174_*569+187del (n.*569+174_*569+187del) c.1156+174_1156+187del (n.1156+174_1156+187del) c.*597+174_*597+187del (n.*597+174_*597+187del) n.1527+174_1527+187del n.2840+174_2840+187del n.340+174_340+187del n.2128+174_2128+187del n.1264+174_1264+187del c.1018+174_1018+187del (n.1018+174_1018+187del) c.853+174_853+187del (n.853+174_853+187del) c.1221+174_1221+187del (n.1221+174_1221+187del) c.1209+174_1209+187del (n.1209+174_1209+187del) n.494+174_494+187del c.956-5010_956-4997del (n.956-5010_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212115_73212129del | CA708388948 | PSEN1 | c.1117+173_1117+187del (n.1117+173_1117+187del) c.1129+173_1129+187del (n.1129+173_1129+187del) n.1879+173_1879+187del c.*84+173_*84+187del (n.*84+173_*84+187del) n.1555+173_1555+187del c.1009+173_1009+187del (n.1009+173_1009+187del) c.*1073+173_*1073+187del (n.*1073+173_*1073+187del) n.6679+173_6679+187del c.*1341+173_*1341+187del (n.*1341+173_*1341+187del) c.944-5011_944-4997del (n.944-5011_944-4997del) c.1172+130_1172+144del (n.1172+130_1172+144del) c.*791+173_*791+187del (n.*791+173_*791+187del) c.*687+173_*687+187del (n.*687+173_*687+187del) c.1030+173_1030+187del (n.1030+173_1030+187del) c.*1218+173_*1218+187del (n.*1218+173_*1218+187del) c.880+173_880+187del (n.880+173_880+187del) c.*1068+173_*1068+187del (n.*1068+173_*1068+187del) c.*909+173_*909+187del (n.*909+173_*909+187del) c.*569+173_*569+187del (n.*569+173_*569+187del) c.1156+173_1156+187del (n.1156+173_1156+187del) c.*597+173_*597+187del (n.*597+173_*597+187del) n.1527+173_1527+187del n.2840+173_2840+187del n.340+173_340+187del n.2128+173_2128+187del n.1264+173_1264+187del c.1018+173_1018+187del (n.1018+173_1018+187del) c.853+173_853+187del (n.853+173_853+187del) c.1221+173_1221+187del (n.1221+173_1221+187del) c.1209+173_1209+187del (n.1209+173_1209+187del) n.494+173_494+187del c.956-5011_956-4997del (n.956-5011_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212114_73212129del | CA262618857 | PSEN1 | c.1117+172_1117+187del (n.1117+172_1117+187del) c.1129+172_1129+187del (n.1129+172_1129+187del) n.1879+172_1879+187del c.*84+172_*84+187del (n.*84+172_*84+187del) n.1555+172_1555+187del c.1009+172_1009+187del (n.1009+172_1009+187del) c.*1073+172_*1073+187del (n.*1073+172_*1073+187del) n.6679+172_6679+187del c.*1341+172_*1341+187del (n.*1341+172_*1341+187del) c.944-5012_944-4997del (n.944-5012_944-4997del) c.1172+129_1172+144del (n.1172+129_1172+144del) c.*791+172_*791+187del (n.*791+172_*791+187del) c.*687+172_*687+187del (n.*687+172_*687+187del) c.1030+172_1030+187del (n.1030+172_1030+187del) c.*1218+172_*1218+187del (n.*1218+172_*1218+187del) c.880+172_880+187del (n.880+172_880+187del) c.*1068+172_*1068+187del (n.*1068+172_*1068+187del) c.*909+172_*909+187del (n.*909+172_*909+187del) c.*569+172_*569+187del (n.*569+172_*569+187del) c.1156+172_1156+187del (n.1156+172_1156+187del) c.*597+172_*597+187del (n.*597+172_*597+187del) n.1527+172_1527+187del n.2840+172_2840+187del n.340+172_340+187del n.2128+172_2128+187del n.1264+172_1264+187del c.1018+172_1018+187del (n.1018+172_1018+187del) c.853+172_853+187del (n.853+172_853+187del) c.1221+172_1221+187del (n.1221+172_1221+187del) c.1209+172_1209+187del (n.1209+172_1209+187del) n.494+172_494+187del c.956-5012_956-4997del (n.956-5012_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212113_73212129del | CA708388933 | PSEN1 | c.1117+171_1117+187del (n.1117+171_1117+187del) c.1129+171_1129+187del (n.1129+171_1129+187del) n.1879+171_1879+187del c.*84+171_*84+187del (n.*84+171_*84+187del) n.1555+171_1555+187del c.1009+171_1009+187del (n.1009+171_1009+187del) c.*1073+171_*1073+187del (n.*1073+171_*1073+187del) n.6679+171_6679+187del c.*1341+171_*1341+187del (n.*1341+171_*1341+187del) c.944-5013_944-4997del (n.944-5013_944-4997del) c.1172+128_1172+144del (n.1172+128_1172+144del) c.*791+171_*791+187del (n.*791+171_*791+187del) c.*687+171_*687+187del (n.*687+171_*687+187del) c.1030+171_1030+187del (n.1030+171_1030+187del) c.*1218+171_*1218+187del (n.*1218+171_*1218+187del) c.880+171_880+187del (n.880+171_880+187del) c.*1068+171_*1068+187del (n.*1068+171_*1068+187del) c.*909+171_*909+187del (n.*909+171_*909+187del) c.*569+171_*569+187del (n.*569+171_*569+187del) c.1156+171_1156+187del (n.1156+171_1156+187del) c.*597+171_*597+187del (n.*597+171_*597+187del) n.1527+171_1527+187del n.2840+171_2840+187del n.340+171_340+187del n.2128+171_2128+187del n.1264+171_1264+187del c.1018+171_1018+187del (n.1018+171_1018+187del) c.853+171_853+187del (n.853+171_853+187del) c.1221+171_1221+187del (n.1221+171_1221+187del) c.1209+171_1209+187del (n.1209+171_1209+187del) n.494+171_494+187del c.956-5013_956-4997del (n.956-5013_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212112_73212129del | CA708388913 | PSEN1 | c.1117+170_1117+187del (n.1117+170_1117+187del) c.1129+170_1129+187del (n.1129+170_1129+187del) n.1879+170_1879+187del c.*84+170_*84+187del (n.*84+170_*84+187del) n.1555+170_1555+187del c.1009+170_1009+187del (n.1009+170_1009+187del) c.*1073+170_*1073+187del (n.*1073+170_*1073+187del) n.6679+170_6679+187del c.*1341+170_*1341+187del (n.*1341+170_*1341+187del) c.944-5014_944-4997del (n.944-5014_944-4997del) c.1172+127_1172+144del (n.1172+127_1172+144del) c.*791+170_*791+187del (n.*791+170_*791+187del) c.*687+170_*687+187del (n.*687+170_*687+187del) c.1030+170_1030+187del (n.1030+170_1030+187del) c.*1218+170_*1218+187del (n.*1218+170_*1218+187del) c.880+170_880+187del (n.880+170_880+187del) c.*1068+170_*1068+187del (n.*1068+170_*1068+187del) c.*909+170_*909+187del (n.*909+170_*909+187del) c.*569+170_*569+187del (n.*569+170_*569+187del) c.1156+170_1156+187del (n.1156+170_1156+187del) c.*597+170_*597+187del (n.*597+170_*597+187del) n.1527+170_1527+187del n.2840+170_2840+187del n.340+170_340+187del n.2128+170_2128+187del n.1264+170_1264+187del c.1018+170_1018+187del (n.1018+170_1018+187del) c.853+170_853+187del (n.853+170_853+187del) c.1221+170_1221+187del (n.1221+170_1221+187del) c.1209+170_1209+187del (n.1209+170_1209+187del) n.494+170_494+187del c.956-5014_956-4997del (n.956-5014_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212111_73212129del | CA708388916 | PSEN1 | c.1117+169_1117+187del (n.1117+169_1117+187del) c.1129+169_1129+187del (n.1129+169_1129+187del) n.1879+169_1879+187del c.*84+169_*84+187del (n.*84+169_*84+187del) n.1555+169_1555+187del c.1009+169_1009+187del (n.1009+169_1009+187del) c.*1073+169_*1073+187del (n.*1073+169_*1073+187del) n.6679+169_6679+187del c.*1341+169_*1341+187del (n.*1341+169_*1341+187del) c.944-5015_944-4997del (n.944-5015_944-4997del) c.1172+126_1172+144del (n.1172+126_1172+144del) c.*791+169_*791+187del (n.*791+169_*791+187del) c.*687+169_*687+187del (n.*687+169_*687+187del) c.1030+169_1030+187del (n.1030+169_1030+187del) c.*1218+169_*1218+187del (n.*1218+169_*1218+187del) c.880+169_880+187del (n.880+169_880+187del) c.*1068+169_*1068+187del (n.*1068+169_*1068+187del) c.*909+169_*909+187del (n.*909+169_*909+187del) c.*569+169_*569+187del (n.*569+169_*569+187del) c.1156+169_1156+187del (n.1156+169_1156+187del) c.*597+169_*597+187del (n.*597+169_*597+187del) n.1527+169_1527+187del n.2840+169_2840+187del n.340+169_340+187del n.2128+169_2128+187del n.1264+169_1264+187del c.1018+169_1018+187del (n.1018+169_1018+187del) c.853+169_853+187del (n.853+169_853+187del) c.1221+169_1221+187del (n.1221+169_1221+187del) c.1209+169_1209+187del (n.1209+169_1209+187del) n.494+169_494+187del c.956-5015_956-4997del (n.956-5015_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212110_73212129del | CA708388918 | PSEN1 | c.1117+168_1117+187del (n.1117+168_1117+187del) c.1129+168_1129+187del (n.1129+168_1129+187del) n.1879+168_1879+187del c.*84+168_*84+187del (n.*84+168_*84+187del) n.1555+168_1555+187del c.1009+168_1009+187del (n.1009+168_1009+187del) c.*1073+168_*1073+187del (n.*1073+168_*1073+187del) n.6679+168_6679+187del c.*1341+168_*1341+187del (n.*1341+168_*1341+187del) c.944-5016_944-4997del (n.944-5016_944-4997del) c.1172+125_1172+144del (n.1172+125_1172+144del) c.*791+168_*791+187del (n.*791+168_*791+187del) c.*687+168_*687+187del (n.*687+168_*687+187del) c.1030+168_1030+187del (n.1030+168_1030+187del) c.*1218+168_*1218+187del (n.*1218+168_*1218+187del) c.880+168_880+187del (n.880+168_880+187del) c.*1068+168_*1068+187del (n.*1068+168_*1068+187del) c.*909+168_*909+187del (n.*909+168_*909+187del) c.*569+168_*569+187del (n.*569+168_*569+187del) c.1156+168_1156+187del (n.1156+168_1156+187del) c.*597+168_*597+187del (n.*597+168_*597+187del) n.1527+168_1527+187del n.2840+168_2840+187del n.340+168_340+187del n.2128+168_2128+187del n.1264+168_1264+187del c.1018+168_1018+187del (n.1018+168_1018+187del) c.853+168_853+187del (n.853+168_853+187del) c.1221+168_1221+187del (n.1221+168_1221+187del) c.1209+168_1209+187del (n.1209+168_1209+187del) n.494+168_494+187del c.956-5016_956-4997del (n.956-5016_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212109_73212129del | CA708388919 | PSEN1 | c.1117+167_1117+187del (n.1117+167_1117+187del) c.1129+167_1129+187del (n.1129+167_1129+187del) n.1879+167_1879+187del c.*84+167_*84+187del (n.*84+167_*84+187del) n.1555+167_1555+187del c.1009+167_1009+187del (n.1009+167_1009+187del) c.*1073+167_*1073+187del (n.*1073+167_*1073+187del) n.6679+167_6679+187del c.*1341+167_*1341+187del (n.*1341+167_*1341+187del) c.944-5017_944-4997del (n.944-5017_944-4997del) c.1172+124_1172+144del (n.1172+124_1172+144del) c.*791+167_*791+187del (n.*791+167_*791+187del) c.*687+167_*687+187del (n.*687+167_*687+187del) c.1030+167_1030+187del (n.1030+167_1030+187del) c.*1218+167_*1218+187del (n.*1218+167_*1218+187del) c.880+167_880+187del (n.880+167_880+187del) c.*1068+167_*1068+187del (n.*1068+167_*1068+187del) c.*909+167_*909+187del (n.*909+167_*909+187del) c.*569+167_*569+187del (n.*569+167_*569+187del) c.1156+167_1156+187del (n.1156+167_1156+187del) c.*597+167_*597+187del (n.*597+167_*597+187del) n.1527+167_1527+187del n.2840+167_2840+187del n.340+167_340+187del n.2128+167_2128+187del n.1264+167_1264+187del c.1018+167_1018+187del (n.1018+167_1018+187del) c.853+167_853+187del (n.853+167_853+187del) c.1221+167_1221+187del (n.1221+167_1221+187del) c.1209+167_1209+187del (n.1209+167_1209+187del) n.494+167_494+187del c.956-5017_956-4997del (n.956-5017_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212108_73212129del | CA708388920 | PSEN1 | c.1117+166_1117+187del (n.1117+166_1117+187del) c.1129+166_1129+187del (n.1129+166_1129+187del) n.1879+166_1879+187del c.*84+166_*84+187del (n.*84+166_*84+187del) n.1555+166_1555+187del c.1009+166_1009+187del (n.1009+166_1009+187del) c.*1073+166_*1073+187del (n.*1073+166_*1073+187del) n.6679+166_6679+187del c.*1341+166_*1341+187del (n.*1341+166_*1341+187del) c.944-5018_944-4997del (n.944-5018_944-4997del) c.1172+123_1172+144del (n.1172+123_1172+144del) c.*791+166_*791+187del (n.*791+166_*791+187del) c.*687+166_*687+187del (n.*687+166_*687+187del) c.1030+166_1030+187del (n.1030+166_1030+187del) c.*1218+166_*1218+187del (n.*1218+166_*1218+187del) c.880+166_880+187del (n.880+166_880+187del) c.*1068+166_*1068+187del (n.*1068+166_*1068+187del) c.*909+166_*909+187del (n.*909+166_*909+187del) c.*569+166_*569+187del (n.*569+166_*569+187del) c.1156+166_1156+187del (n.1156+166_1156+187del) c.*597+166_*597+187del (n.*597+166_*597+187del) n.1527+166_1527+187del n.2840+166_2840+187del n.340+166_340+187del n.2128+166_2128+187del n.1264+166_1264+187del c.1018+166_1018+187del (n.1018+166_1018+187del) c.853+166_853+187del (n.853+166_853+187del) c.1221+166_1221+187del (n.1221+166_1221+187del) c.1209+166_1209+187del (n.1209+166_1209+187del) n.494+166_494+187del c.956-5018_956-4997del (n.956-5018_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212107_73212129del | CA708388922 | PSEN1 | c.1117+165_1117+187del (n.1117+165_1117+187del) c.1129+165_1129+187del (n.1129+165_1129+187del) n.1879+165_1879+187del c.*84+165_*84+187del (n.*84+165_*84+187del) n.1555+165_1555+187del c.1009+165_1009+187del (n.1009+165_1009+187del) c.*1073+165_*1073+187del (n.*1073+165_*1073+187del) n.6679+165_6679+187del c.*1341+165_*1341+187del (n.*1341+165_*1341+187del) c.944-5019_944-4997del (n.944-5019_944-4997del) c.1172+122_1172+144del (n.1172+122_1172+144del) c.*791+165_*791+187del (n.*791+165_*791+187del) c.*687+165_*687+187del (n.*687+165_*687+187del) c.1030+165_1030+187del (n.1030+165_1030+187del) c.*1218+165_*1218+187del (n.*1218+165_*1218+187del) c.880+165_880+187del (n.880+165_880+187del) c.*1068+165_*1068+187del (n.*1068+165_*1068+187del) c.*909+165_*909+187del (n.*909+165_*909+187del) c.*569+165_*569+187del (n.*569+165_*569+187del) c.1156+165_1156+187del (n.1156+165_1156+187del) c.*597+165_*597+187del (n.*597+165_*597+187del) n.1527+165_1527+187del n.2840+165_2840+187del n.340+165_340+187del n.2128+165_2128+187del n.1264+165_1264+187del c.1018+165_1018+187del (n.1018+165_1018+187del) c.853+165_853+187del (n.853+165_853+187del) c.1221+165_1221+187del (n.1221+165_1221+187del) c.1209+165_1209+187del (n.1209+165_1209+187del) n.494+165_494+187del c.956-5019_956-4997del (n.956-5019_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212106_73212129del | CA708388923 | PSEN1 | c.1117+164_1117+187del (n.1117+164_1117+187del) c.1129+164_1129+187del (n.1129+164_1129+187del) n.1879+164_1879+187del c.*84+164_*84+187del (n.*84+164_*84+187del) n.1555+164_1555+187del c.1009+164_1009+187del (n.1009+164_1009+187del) c.*1073+164_*1073+187del (n.*1073+164_*1073+187del) n.6679+164_6679+187del c.*1341+164_*1341+187del (n.*1341+164_*1341+187del) c.944-5020_944-4997del (n.944-5020_944-4997del) c.1172+121_1172+144del (n.1172+121_1172+144del) c.*791+164_*791+187del (n.*791+164_*791+187del) c.*687+164_*687+187del (n.*687+164_*687+187del) c.1030+164_1030+187del (n.1030+164_1030+187del) c.*1218+164_*1218+187del (n.*1218+164_*1218+187del) c.880+164_880+187del (n.880+164_880+187del) c.*1068+164_*1068+187del (n.*1068+164_*1068+187del) c.*909+164_*909+187del (n.*909+164_*909+187del) c.*569+164_*569+187del (n.*569+164_*569+187del) c.1156+164_1156+187del (n.1156+164_1156+187del) c.*597+164_*597+187del (n.*597+164_*597+187del) n.1527+164_1527+187del n.2840+164_2840+187del n.340+164_340+187del n.2128+164_2128+187del n.1264+164_1264+187del c.1018+164_1018+187del (n.1018+164_1018+187del) c.853+164_853+187del (n.853+164_853+187del) c.1221+164_1221+187del (n.1221+164_1221+187del) c.1209+164_1209+187del (n.1209+164_1209+187del) n.494+164_494+187del c.956-5020_956-4997del (n.956-5020_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212105_73212129del | CA708388924 | PSEN1 | c.1117+163_1117+187del (n.1117+163_1117+187del) c.1129+163_1129+187del (n.1129+163_1129+187del) n.1879+163_1879+187del c.*84+163_*84+187del (n.*84+163_*84+187del) n.1555+163_1555+187del c.1009+163_1009+187del (n.1009+163_1009+187del) c.*1073+163_*1073+187del (n.*1073+163_*1073+187del) n.6679+163_6679+187del c.*1341+163_*1341+187del (n.*1341+163_*1341+187del) c.944-5021_944-4997del (n.944-5021_944-4997del) c.1172+120_1172+144del (n.1172+120_1172+144del) c.*791+163_*791+187del (n.*791+163_*791+187del) c.*687+163_*687+187del (n.*687+163_*687+187del) c.1030+163_1030+187del (n.1030+163_1030+187del) c.*1218+163_*1218+187del (n.*1218+163_*1218+187del) c.880+163_880+187del (n.880+163_880+187del) c.*1068+163_*1068+187del (n.*1068+163_*1068+187del) c.*909+163_*909+187del (n.*909+163_*909+187del) c.*569+163_*569+187del (n.*569+163_*569+187del) c.1156+163_1156+187del (n.1156+163_1156+187del) c.*597+163_*597+187del (n.*597+163_*597+187del) n.1527+163_1527+187del n.2840+163_2840+187del n.340+163_340+187del n.2128+163_2128+187del n.1264+163_1264+187del c.1018+163_1018+187del (n.1018+163_1018+187del) c.853+163_853+187del (n.853+163_853+187del) c.1221+163_1221+187del (n.1221+163_1221+187del) c.1209+163_1209+187del (n.1209+163_1209+187del) n.494+163_494+187del c.956-5021_956-4997del (n.956-5021_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212104_73212129del | CA708388925 | PSEN1 | c.1117+162_1117+187del (n.1117+162_1117+187del) c.1129+162_1129+187del (n.1129+162_1129+187del) n.1879+162_1879+187del c.*84+162_*84+187del (n.*84+162_*84+187del) n.1555+162_1555+187del c.1009+162_1009+187del (n.1009+162_1009+187del) c.*1073+162_*1073+187del (n.*1073+162_*1073+187del) n.6679+162_6679+187del c.*1341+162_*1341+187del (n.*1341+162_*1341+187del) c.944-5022_944-4997del (n.944-5022_944-4997del) c.1172+119_1172+144del (n.1172+119_1172+144del) c.*791+162_*791+187del (n.*791+162_*791+187del) c.*687+162_*687+187del (n.*687+162_*687+187del) c.1030+162_1030+187del (n.1030+162_1030+187del) c.*1218+162_*1218+187del (n.*1218+162_*1218+187del) c.880+162_880+187del (n.880+162_880+187del) c.*1068+162_*1068+187del (n.*1068+162_*1068+187del) c.*909+162_*909+187del (n.*909+162_*909+187del) c.*569+162_*569+187del (n.*569+162_*569+187del) c.1156+162_1156+187del (n.1156+162_1156+187del) c.*597+162_*597+187del (n.*597+162_*597+187del) n.1527+162_1527+187del n.2840+162_2840+187del n.340+162_340+187del n.2128+162_2128+187del n.1264+162_1264+187del c.1018+162_1018+187del (n.1018+162_1018+187del) c.853+162_853+187del (n.853+162_853+187del) c.1221+162_1221+187del (n.1221+162_1221+187del) c.1209+162_1209+187del (n.1209+162_1209+187del) n.494+162_494+187del c.956-5022_956-4997del (n.956-5022_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212103_73212129del | CA708388926 | PSEN1 | c.1117+161_1117+187del (n.1117+161_1117+187del) c.1129+161_1129+187del (n.1129+161_1129+187del) n.1879+161_1879+187del c.*84+161_*84+187del (n.*84+161_*84+187del) n.1555+161_1555+187del c.1009+161_1009+187del (n.1009+161_1009+187del) c.*1073+161_*1073+187del (n.*1073+161_*1073+187del) n.6679+161_6679+187del c.*1341+161_*1341+187del (n.*1341+161_*1341+187del) c.944-5023_944-4997del (n.944-5023_944-4997del) c.1172+118_1172+144del (n.1172+118_1172+144del) c.*791+161_*791+187del (n.*791+161_*791+187del) c.*687+161_*687+187del (n.*687+161_*687+187del) c.1030+161_1030+187del (n.1030+161_1030+187del) c.*1218+161_*1218+187del (n.*1218+161_*1218+187del) c.880+161_880+187del (n.880+161_880+187del) c.*1068+161_*1068+187del (n.*1068+161_*1068+187del) c.*909+161_*909+187del (n.*909+161_*909+187del) c.*569+161_*569+187del (n.*569+161_*569+187del) c.1156+161_1156+187del (n.1156+161_1156+187del) c.*597+161_*597+187del (n.*597+161_*597+187del) n.1527+161_1527+187del n.2840+161_2840+187del n.340+161_340+187del n.2128+161_2128+187del n.1264+161_1264+187del c.1018+161_1018+187del (n.1018+161_1018+187del) c.853+161_853+187del (n.853+161_853+187del) c.1221+161_1221+187del (n.1221+161_1221+187del) c.1209+161_1209+187del (n.1209+161_1209+187del) n.494+161_494+187del c.956-5023_956-4997del (n.956-5023_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212102_73212129del | CA708388927 | PSEN1 | c.1117+160_1117+187del (n.1117+160_1117+187del) c.1129+160_1129+187del (n.1129+160_1129+187del) n.1879+160_1879+187del c.*84+160_*84+187del (n.*84+160_*84+187del) n.1555+160_1555+187del c.1009+160_1009+187del (n.1009+160_1009+187del) c.*1073+160_*1073+187del (n.*1073+160_*1073+187del) n.6679+160_6679+187del c.*1341+160_*1341+187del (n.*1341+160_*1341+187del) c.944-5024_944-4997del (n.944-5024_944-4997del) c.1172+117_1172+144del (n.1172+117_1172+144del) c.*791+160_*791+187del (n.*791+160_*791+187del) c.*687+160_*687+187del (n.*687+160_*687+187del) c.1030+160_1030+187del (n.1030+160_1030+187del) c.*1218+160_*1218+187del (n.*1218+160_*1218+187del) c.880+160_880+187del (n.880+160_880+187del) c.*1068+160_*1068+187del (n.*1068+160_*1068+187del) c.*909+160_*909+187del (n.*909+160_*909+187del) c.*569+160_*569+187del (n.*569+160_*569+187del) c.1156+160_1156+187del (n.1156+160_1156+187del) c.*597+160_*597+187del (n.*597+160_*597+187del) n.1527+160_1527+187del n.2840+160_2840+187del n.340+160_340+187del n.2128+160_2128+187del n.1264+160_1264+187del c.1018+160_1018+187del (n.1018+160_1018+187del) c.853+160_853+187del (n.853+160_853+187del) c.1221+160_1221+187del (n.1221+160_1221+187del) c.1209+160_1209+187del (n.1209+160_1209+187del) n.494+160_494+187del c.956-5024_956-4997del (n.956-5024_956-4997del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212101_73212129del | CA708388928 | PSEN1 | c.1117+159_1117+187del (n.1117+159_1117+187del) c.1129+159_1129+187del (n.1129+159_1129+187del) n.1879+159_1879+187del c.*84+159_*84+187del (n.*84+159_*84+187del) n.1555+159_1555+187del c.1009+159_1009+187del (n.1009+159_1009+187del) c.*1073+159_*1073+187del (n.*1073+159_*1073+187del) n.6679+159_6679+187del c.*1341+159_*1341+187del (n.*1341+159_*1341+187del) c.944-5025_944-4997del (n.944-5025_944-4997del) c.1172+116_1172+144del (n.1172+116_1172+144del) c.*791+159_*791+187del (n.*791+159_*791+187del) c.*687+159_*687+187del (n.*687+159_*687+187del) c.1030+159_1030+187del (n.1030+159_1030+187del) c.*1218+159_*1218+187del (n.*1218+159_*1218+187del) c.880+159_880+187del (n.880+159_880+187del) c.*1068+159_*1068+187del (n.*1068+159_*1068+187del) c.*909+159_*909+187del (n.*909+159_*909+187del) c.*569+159_*569+187del (n.*569+159_*569+187del) c.1156+159_1156+187del (n.1156+159_1156+187del) c.*597+159_*597+187del (n.*597+159_*597+187del) n.1527+159_1527+187del n.2840+159_2840+187del n.340+159_340+187del n.2128+159_2128+187del n.1264+159_1264+187del c.1018+159_1018+187del (n.1018+159_1018+187del) c.853+159_853+187del (n.853+159_853+187del) c.1221+159_1221+187del (n.1221+159_1221+187del) c.1209+159_1209+187del (n.1209+159_1209+187del) n.494+159_494+187del c.956-5025_956-4997del (n.956-5025_956-4997del) | dbSNP gnomAD v4 |
14 | g.73212098_73212129del | CA2625561434 | PSEN1 | c.1117+156_1117+187del (n.1117+156_1117+187del) c.1129+156_1129+187del (n.1129+156_1129+187del) n.1879+156_1879+187del c.*84+156_*84+187del (n.*84+156_*84+187del) n.1555+156_1555+187del c.1009+156_1009+187del (n.1009+156_1009+187del) c.*1073+156_*1073+187del (n.*1073+156_*1073+187del) n.6679+156_6679+187del c.*1341+156_*1341+187del (n.*1341+156_*1341+187del) c.944-5028_944-4997del (n.944-5028_944-4997del) c.1172+113_1172+144del (n.1172+113_1172+144del) c.*791+156_*791+187del (n.*791+156_*791+187del) c.*687+156_*687+187del (n.*687+156_*687+187del) c.1030+156_1030+187del (n.1030+156_1030+187del) c.*1218+156_*1218+187del (n.*1218+156_*1218+187del) c.880+156_880+187del (n.880+156_880+187del) c.*1068+156_*1068+187del (n.*1068+156_*1068+187del) c.*909+156_*909+187del (n.*909+156_*909+187del) c.*569+156_*569+187del (n.*569+156_*569+187del) c.1156+156_1156+187del (n.1156+156_1156+187del) c.*597+156_*597+187del (n.*597+156_*597+187del) n.1527+156_1527+187del n.2840+156_2840+187del n.340+156_340+187del n.2128+156_2128+187del n.1264+156_1264+187del c.1018+156_1018+187del (n.1018+156_1018+187del) c.853+156_853+187del (n.853+156_853+187del) c.1221+156_1221+187del (n.1221+156_1221+187del) c.1209+156_1209+187del (n.1209+156_1209+187del) n.494+156_494+187del c.956-5028_956-4997del (n.956-5028_956-4997del) | gnomAD v4 |
14 | g.73212097_73212129del | CA2625561433 | PSEN1 | c.1117+155_1117+187del (n.1117+155_1117+187del) c.1129+155_1129+187del (n.1129+155_1129+187del) n.1879+155_1879+187del c.*84+155_*84+187del (n.*84+155_*84+187del) n.1555+155_1555+187del c.1009+155_1009+187del (n.1009+155_1009+187del) c.*1073+155_*1073+187del (n.*1073+155_*1073+187del) n.6679+155_6679+187del c.*1341+155_*1341+187del (n.*1341+155_*1341+187del) c.944-5029_944-4997del (n.944-5029_944-4997del) c.1172+112_1172+144del (n.1172+112_1172+144del) c.*791+155_*791+187del (n.*791+155_*791+187del) c.*687+155_*687+187del (n.*687+155_*687+187del) c.1030+155_1030+187del (n.1030+155_1030+187del) c.*1218+155_*1218+187del (n.*1218+155_*1218+187del) c.880+155_880+187del (n.880+155_880+187del) c.*1068+155_*1068+187del (n.*1068+155_*1068+187del) c.*909+155_*909+187del (n.*909+155_*909+187del) c.*569+155_*569+187del (n.*569+155_*569+187del) c.1156+155_1156+187del (n.1156+155_1156+187del) c.*597+155_*597+187del (n.*597+155_*597+187del) n.1527+155_1527+187del n.2840+155_2840+187del n.340+155_340+187del n.2128+155_2128+187del n.1264+155_1264+187del c.1018+155_1018+187del (n.1018+155_1018+187del) c.853+155_853+187del (n.853+155_853+187del) c.1221+155_1221+187del (n.1221+155_1221+187del) c.1209+155_1209+187del (n.1209+155_1209+187del) n.494+155_494+187del c.956-5029_956-4997del (n.956-5029_956-4997del) | gnomAD v4 |
14 | g.73212090T>A | CA2625561482 | PSEN1 | c.1117+148T>A (n.1117+148T>A) c.1129+148T>A (n.1129+148T>A) n.1879+148T>A c.*84+148T>A (n.*84+148T>A) n.1555+148T>A c.1009+148T>A (n.1009+148T>A) c.*1073+148T>A (n.*1073+148T>A) n.6679+148T>A c.*1341+148T>A (n.*1341+148T>A) c.944-5036T>A (n.944-5036T>A) c.1172+105T>A (n.1172+105T>A) c.*791+148T>A (n.*791+148T>A) c.*687+148T>A (n.*687+148T>A) c.1030+148T>A (n.1030+148T>A) c.*1218+148T>A (n.*1218+148T>A) c.880+148T>A (n.880+148T>A) c.*1068+148T>A (n.*1068+148T>A) c.*909+148T>A (n.*909+148T>A) c.*569+148T>A (n.*569+148T>A) c.1156+148T>A (n.1156+148T>A) c.*597+148T>A (n.*597+148T>A) n.1527+148T>A n.2840+148T>A n.340+148T>A n.2128+148T>A n.1264+148T>A c.1018+148T>A (n.1018+148T>A) c.853+148T>A (n.853+148T>A) c.1221+148T>A (n.1221+148T>A) c.1209+148T>A (n.1209+148T>A) n.494+148T>A c.956-5036T>A (n.956-5036T>A) | gnomAD v4 |
14 | g.73212090T>G | CA2146495560 | PSEN1 | c.1117+148T>G (n.1117+148T>G) c.1129+148T>G (n.1129+148T>G) n.1879+148T>G c.*84+148T>G (n.*84+148T>G) n.1555+148T>G c.1009+148T>G (n.1009+148T>G) c.*1073+148T>G (n.*1073+148T>G) n.6679+148T>G c.*1341+148T>G (n.*1341+148T>G) c.944-5036T>G (n.944-5036T>G) c.1172+105T>G (n.1172+105T>G) c.*791+148T>G (n.*791+148T>G) c.*687+148T>G (n.*687+148T>G) c.1030+148T>G (n.1030+148T>G) c.*1218+148T>G (n.*1218+148T>G) c.880+148T>G (n.880+148T>G) c.*1068+148T>G (n.*1068+148T>G) c.*909+148T>G (n.*909+148T>G) c.*569+148T>G (n.*569+148T>G) c.1156+148T>G (n.1156+148T>G) c.*597+148T>G (n.*597+148T>G) n.1527+148T>G n.2840+148T>G n.340+148T>G n.2128+148T>G n.1264+148T>G c.1018+148T>G (n.1018+148T>G) c.853+148T>G (n.853+148T>G) c.1221+148T>G (n.1221+148T>G) c.1209+148T>G (n.1209+148T>G) n.494+148T>G c.956-5036T>G (n.956-5036T>G) | dbSNP gnomAD v4 |
14 | g.73212090T= | CA2146495559 | PSEN1 | c.1117+148T= (n.1117+148T=) c.1129+148T= (n.1129+148T=) n.1879+148T= c.*84+148T= (n.*84+148T=) n.1555+148T= c.1009+148T= (n.1009+148T=) c.*1073+148T= (n.*1073+148T=) n.6679+148T= c.*1341+148T= (n.*1341+148T=) c.944-5036T= (n.944-5036T=) c.1172+105T= (n.1172+105T=) c.*791+148T= (n.*791+148T=) c.*687+148T= (n.*687+148T=) c.1030+148T= (n.1030+148T=) c.*1218+148T= (n.*1218+148T=) c.880+148T= (n.880+148T=) c.*1068+148T= (n.*1068+148T=) c.*909+148T= (n.*909+148T=) c.*569+148T= (n.*569+148T=) c.1156+148T= (n.1156+148T=) c.*597+148T= (n.*597+148T=) n.1527+148T= n.2840+148T= n.340+148T= n.2128+148T= n.1264+148T= c.1018+148T= (n.1018+148T=) c.853+148T= (n.853+148T=) c.1221+148T= (n.1221+148T=) c.1209+148T= (n.1209+148T=) n.494+148T= c.956-5036T= (n.956-5036T=) | |
14 | g.73212129_73212130insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2625561480 | PSEN1 | c.1117+187_1117+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTATTATTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
14 | g.73212091T>A | CA2545222996 | PSEN1 | c.1117+149T>A (n.1117+149T>A) c.1129+149T>A (n.1129+149T>A) n.1879+149T>A c.*84+149T>A (n.*84+149T>A) n.1555+149T>A c.1009+149T>A (n.1009+149T>A) c.*1073+149T>A (n.*1073+149T>A) n.6679+149T>A c.*1341+149T>A (n.*1341+149T>A) c.944-5035T>A (n.944-5035T>A) c.1172+106T>A (n.1172+106T>A) c.*791+149T>A (n.*791+149T>A) c.*687+149T>A (n.*687+149T>A) c.1030+149T>A (n.1030+149T>A) c.*1218+149T>A (n.*1218+149T>A) c.880+149T>A (n.880+149T>A) c.*1068+149T>A (n.*1068+149T>A) c.*909+149T>A (n.*909+149T>A) c.*569+149T>A (n.*569+149T>A) c.1156+149T>A (n.1156+149T>A) c.*597+149T>A (n.*597+149T>A) n.1527+149T>A n.2840+149T>A n.340+149T>A n.2128+149T>A n.1264+149T>A c.1018+149T>A (n.1018+149T>A) c.853+149T>A (n.853+149T>A) c.1221+149T>A (n.1221+149T>A) c.1209+149T>A (n.1209+149T>A) n.494+149T>A c.956-5035T>A (n.956-5035T>A) | gnomAD v4 |
14 | g.73212091T>C | CA2506423358 | PSEN1 | c.1117+149T>C (n.1117+149T>C) c.1129+149T>C (n.1129+149T>C) n.1879+149T>C c.*84+149T>C (n.*84+149T>C) n.1555+149T>C c.1009+149T>C (n.1009+149T>C) c.*1073+149T>C (n.*1073+149T>C) n.6679+149T>C c.*1341+149T>C (n.*1341+149T>C) c.944-5035T>C (n.944-5035T>C) c.1172+106T>C (n.1172+106T>C) c.*791+149T>C (n.*791+149T>C) c.*687+149T>C (n.*687+149T>C) c.1030+149T>C (n.1030+149T>C) c.*1218+149T>C (n.*1218+149T>C) c.880+149T>C (n.880+149T>C) c.*1068+149T>C (n.*1068+149T>C) c.*909+149T>C (n.*909+149T>C) c.*569+149T>C (n.*569+149T>C) c.1156+149T>C (n.1156+149T>C) c.*597+149T>C (n.*597+149T>C) n.1527+149T>C n.2840+149T>C n.340+149T>C n.2128+149T>C n.1264+149T>C c.1018+149T>C (n.1018+149T>C) c.853+149T>C (n.853+149T>C) c.1221+149T>C (n.1221+149T>C) c.1209+149T>C (n.1209+149T>C) n.494+149T>C c.956-5035T>C (n.956-5035T>C) | gnomAD v4 |
14 | g.73212091T>G | CA2625561487 | PSEN1 | c.1117+149T>G (n.1117+149T>G) c.1129+149T>G (n.1129+149T>G) n.1879+149T>G c.*84+149T>G (n.*84+149T>G) n.1555+149T>G c.1009+149T>G (n.1009+149T>G) c.*1073+149T>G (n.*1073+149T>G) n.6679+149T>G c.*1341+149T>G (n.*1341+149T>G) c.944-5035T>G (n.944-5035T>G) c.1172+106T>G (n.1172+106T>G) c.*791+149T>G (n.*791+149T>G) c.*687+149T>G (n.*687+149T>G) c.1030+149T>G (n.1030+149T>G) c.*1218+149T>G (n.*1218+149T>G) c.880+149T>G (n.880+149T>G) c.*1068+149T>G (n.*1068+149T>G) c.*909+149T>G (n.*909+149T>G) c.*569+149T>G (n.*569+149T>G) c.1156+149T>G (n.1156+149T>G) c.*597+149T>G (n.*597+149T>G) n.1527+149T>G n.2840+149T>G n.340+149T>G n.2128+149T>G n.1264+149T>G c.1018+149T>G (n.1018+149T>G) c.853+149T>G (n.853+149T>G) c.1221+149T>G (n.1221+149T>G) c.1209+149T>G (n.1209+149T>G) n.494+149T>G c.956-5035T>G (n.956-5035T>G) | gnomAD v4 |
14 | g.73212092_73212093insCTT | CA964614962 | PSEN1 | c.1117+150_1117+151insCTT (n.1117+150_1117+151insCTT) c.1129+150_1129+151insCTT (n.1129+150_1129+151insCTT) n.1879+150_1879+151insCTT c.*84+150_*84+151insCTT (n.*84+150_*84+151insCTT) n.1555+150_1555+151insCTT c.1009+150_1009+151insCTT (n.1009+150_1009+151insCTT) c.*1073+150_*1073+151insCTT (n.*1073+150_*1073+151insCTT) n.6679+150_6679+151insCTT c.*1341+150_*1341+151insCTT (n.*1341+150_*1341+151insCTT) c.944-5034_944-5033insCTT (n.944-5034_944-5033insCTT) c.1172+107_1172+108insCTT (n.1172+107_1172+108insCTT) c.*791+150_*791+151insCTT (n.*791+150_*791+151insCTT) c.*687+150_*687+151insCTT (n.*687+150_*687+151insCTT) c.1030+150_1030+151insCTT (n.1030+150_1030+151insCTT) c.*1218+150_*1218+151insCTT (n.*1218+150_*1218+151insCTT) c.880+150_880+151insCTT (n.880+150_880+151insCTT) c.*1068+150_*1068+151insCTT (n.*1068+150_*1068+151insCTT) c.*909+150_*909+151insCTT (n.*909+150_*909+151insCTT) c.*569+150_*569+151insCTT (n.*569+150_*569+151insCTT) c.1156+150_1156+151insCTT (n.1156+150_1156+151insCTT) c.*597+150_*597+151insCTT (n.*597+150_*597+151insCTT) n.1527+150_1527+151insCTT n.2840+150_2840+151insCTT n.340+150_340+151insCTT n.2128+150_2128+151insCTT n.1264+150_1264+151insCTT c.1018+150_1018+151insCTT (n.1018+150_1018+151insCTT) c.853+150_853+151insCTT (n.853+150_853+151insCTT) c.1221+150_1221+151insCTT (n.1221+150_1221+151insCTT) c.1209+150_1209+151insCTT (n.1209+150_1209+151insCTT) n.494+150_494+151insCTT c.956-5034_956-5033insCTT (n.956-5034_956-5033insCTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212092T>A | CA2625561490 | PSEN1 | c.1117+150T>A (n.1117+150T>A) c.1129+150T>A (n.1129+150T>A) n.1879+150T>A c.*84+150T>A (n.*84+150T>A) n.1555+150T>A c.1009+150T>A (n.1009+150T>A) c.*1073+150T>A (n.*1073+150T>A) n.6679+150T>A c.*1341+150T>A (n.*1341+150T>A) c.944-5034T>A (n.944-5034T>A) c.1172+107T>A (n.1172+107T>A) c.*791+150T>A (n.*791+150T>A) c.*687+150T>A (n.*687+150T>A) c.1030+150T>A (n.1030+150T>A) c.*1218+150T>A (n.*1218+150T>A) c.880+150T>A (n.880+150T>A) c.*1068+150T>A (n.*1068+150T>A) c.*909+150T>A (n.*909+150T>A) c.*569+150T>A (n.*569+150T>A) c.1156+150T>A (n.1156+150T>A) c.*597+150T>A (n.*597+150T>A) n.1527+150T>A n.2840+150T>A n.340+150T>A n.2128+150T>A n.1264+150T>A c.1018+150T>A (n.1018+150T>A) c.853+150T>A (n.853+150T>A) c.1221+150T>A (n.1221+150T>A) c.1209+150T>A (n.1209+150T>A) n.494+150T>A c.956-5034T>A (n.956-5034T>A) | gnomAD v4 |
14 | g.73212092T>C | CA2625561492 | PSEN1 | c.1117+150T>C (n.1117+150T>C) c.1129+150T>C (n.1129+150T>C) n.1879+150T>C c.*84+150T>C (n.*84+150T>C) n.1555+150T>C c.1009+150T>C (n.1009+150T>C) c.*1073+150T>C (n.*1073+150T>C) n.6679+150T>C c.*1341+150T>C (n.*1341+150T>C) c.944-5034T>C (n.944-5034T>C) c.1172+107T>C (n.1172+107T>C) c.*791+150T>C (n.*791+150T>C) c.*687+150T>C (n.*687+150T>C) c.1030+150T>C (n.1030+150T>C) c.*1218+150T>C (n.*1218+150T>C) c.880+150T>C (n.880+150T>C) c.*1068+150T>C (n.*1068+150T>C) c.*909+150T>C (n.*909+150T>C) c.*569+150T>C (n.*569+150T>C) c.1156+150T>C (n.1156+150T>C) c.*597+150T>C (n.*597+150T>C) n.1527+150T>C n.2840+150T>C n.340+150T>C n.2128+150T>C n.1264+150T>C c.1018+150T>C (n.1018+150T>C) c.853+150T>C (n.853+150T>C) c.1221+150T>C (n.1221+150T>C) c.1209+150T>C (n.1209+150T>C) n.494+150T>C c.956-5034T>C (n.956-5034T>C) | gnomAD v4 |
14 | g.73212092T>G | CA2625561493 | PSEN1 | c.1117+150T>G (n.1117+150T>G) c.1129+150T>G (n.1129+150T>G) n.1879+150T>G c.*84+150T>G (n.*84+150T>G) n.1555+150T>G c.1009+150T>G (n.1009+150T>G) c.*1073+150T>G (n.*1073+150T>G) n.6679+150T>G c.*1341+150T>G (n.*1341+150T>G) c.944-5034T>G (n.944-5034T>G) c.1172+107T>G (n.1172+107T>G) c.*791+150T>G (n.*791+150T>G) c.*687+150T>G (n.*687+150T>G) c.1030+150T>G (n.1030+150T>G) c.*1218+150T>G (n.*1218+150T>G) c.880+150T>G (n.880+150T>G) c.*1068+150T>G (n.*1068+150T>G) c.*909+150T>G (n.*909+150T>G) c.*569+150T>G (n.*569+150T>G) c.1156+150T>G (n.1156+150T>G) c.*597+150T>G (n.*597+150T>G) n.1527+150T>G n.2840+150T>G n.340+150T>G n.2128+150T>G n.1264+150T>G c.1018+150T>G (n.1018+150T>G) c.853+150T>G (n.853+150T>G) c.1221+150T>G (n.1221+150T>G) c.1209+150T>G (n.1209+150T>G) n.494+150T>G c.956-5034T>G (n.956-5034T>G) | gnomAD v4 |
14 | g.73212092T= | CA2146495561 | PSEN1 | c.1117+150T= (n.1117+150T=) c.1129+150T= (n.1129+150T=) n.1879+150T= c.*84+150T= (n.*84+150T=) n.1555+150T= c.1009+150T= (n.1009+150T=) c.*1073+150T= (n.*1073+150T=) n.6679+150T= c.*1341+150T= (n.*1341+150T=) c.944-5034T= (n.944-5034T=) c.1172+107T= (n.1172+107T=) c.*791+150T= (n.*791+150T=) c.*687+150T= (n.*687+150T=) c.1030+150T= (n.1030+150T=) c.*1218+150T= (n.*1218+150T=) c.880+150T= (n.880+150T=) c.*1068+150T= (n.*1068+150T=) c.*909+150T= (n.*909+150T=) c.*569+150T= (n.*569+150T=) c.1156+150T= (n.1156+150T=) c.*597+150T= (n.*597+150T=) n.1527+150T= n.2840+150T= n.340+150T= n.2128+150T= n.1264+150T= c.1018+150T= (n.1018+150T=) c.853+150T= (n.853+150T=) c.1221+150T= (n.1221+150T=) c.1209+150T= (n.1209+150T=) n.494+150T= c.956-5034T= (n.956-5034T=) | |
14 | g.73212092_73212093insCT | CA964614965 | PSEN1 | c.1117+150_1117+151insCT (n.1117+150_1117+151insCT) c.1129+150_1129+151insCT (n.1129+150_1129+151insCT) n.1879+150_1879+151insCT c.*84+150_*84+151insCT (n.*84+150_*84+151insCT) n.1555+150_1555+151insCT c.1009+150_1009+151insCT (n.1009+150_1009+151insCT) c.*1073+150_*1073+151insCT (n.*1073+150_*1073+151insCT) n.6679+150_6679+151insCT c.*1341+150_*1341+151insCT (n.*1341+150_*1341+151insCT) c.944-5034_944-5033insCT (n.944-5034_944-5033insCT) c.1172+107_1172+108insCT (n.1172+107_1172+108insCT) c.*791+150_*791+151insCT (n.*791+150_*791+151insCT) c.*687+150_*687+151insCT (n.*687+150_*687+151insCT) c.1030+150_1030+151insCT (n.1030+150_1030+151insCT) c.*1218+150_*1218+151insCT (n.*1218+150_*1218+151insCT) c.880+150_880+151insCT (n.880+150_880+151insCT) c.*1068+150_*1068+151insCT (n.*1068+150_*1068+151insCT) c.*909+150_*909+151insCT (n.*909+150_*909+151insCT) c.*569+150_*569+151insCT (n.*569+150_*569+151insCT) c.1156+150_1156+151insCT (n.1156+150_1156+151insCT) c.*597+150_*597+151insCT (n.*597+150_*597+151insCT) n.1527+150_1527+151insCT n.2840+150_2840+151insCT n.340+150_340+151insCT n.2128+150_2128+151insCT n.1264+150_1264+151insCT c.1018+150_1018+151insCT (n.1018+150_1018+151insCT) c.853+150_853+151insCT (n.853+150_853+151insCT) c.1221+150_1221+151insCT (n.1221+150_1221+151insCT) c.1209+150_1209+151insCT (n.1209+150_1209+151insCT) n.494+150_494+151insCT c.956-5034_956-5033insCT (n.956-5034_956-5033insCT) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA964614966 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insC | CA615000746 | PSEN1 | c.1117+150_1117+151insC (n.1117+150_1117+151insC) c.1129+150_1129+151insC (n.1129+150_1129+151insC) n.1879+150_1879+151insC c.*84+150_*84+151insC (n.*84+150_*84+151insC) n.1555+150_1555+151insC c.1009+150_1009+151insC (n.1009+150_1009+151insC) c.*1073+150_*1073+151insC (n.*1073+150_*1073+151insC) n.6679+150_6679+151insC c.*1341+150_*1341+151insC (n.*1341+150_*1341+151insC) c.944-5034_944-5033insC (n.944-5034_944-5033insC) c.1172+107_1172+108insC (n.1172+107_1172+108insC) c.*791+150_*791+151insC (n.*791+150_*791+151insC) c.*687+150_*687+151insC (n.*687+150_*687+151insC) c.1030+150_1030+151insC (n.1030+150_1030+151insC) c.*1218+150_*1218+151insC (n.*1218+150_*1218+151insC) c.880+150_880+151insC (n.880+150_880+151insC) c.*1068+150_*1068+151insC (n.*1068+150_*1068+151insC) c.*909+150_*909+151insC (n.*909+150_*909+151insC) c.*569+150_*569+151insC (n.*569+150_*569+151insC) c.1156+150_1156+151insC (n.1156+150_1156+151insC) c.*597+150_*597+151insC (n.*597+150_*597+151insC) n.1527+150_1527+151insC n.2840+150_2840+151insC n.340+150_340+151insC n.2128+150_2128+151insC n.1264+150_1264+151insC c.1018+150_1018+151insC (n.1018+150_1018+151insC) c.853+150_853+151insC (n.853+150_853+151insC) c.1221+150_1221+151insC (n.1221+150_1221+151insC) c.1209+150_1209+151insC (n.1209+150_1209+151insC) n.494+150_494+151insC c.956-5034_956-5033insC (n.956-5034_956-5033insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212092_73212093insCTTGCC | CA2525020142 | PSEN1 | c.1117+150_1117+151insCTTGCC (n.1117+150_1117+151insCTTGCC) c.1129+150_1129+151insCTTGCC (n.1129+150_1129+151insCTTGCC) n.1879+150_1879+151insCTTGCC c.*84+150_*84+151insCTTGCC (n.*84+150_*84+151insCTTGCC) n.1555+150_1555+151insCTTGCC c.1009+150_1009+151insCTTGCC (n.1009+150_1009+151insCTTGCC) c.*1073+150_*1073+151insCTTGCC (n.*1073+150_*1073+151insCTTGCC) n.6679+150_6679+151insCTTGCC c.*1341+150_*1341+151insCTTGCC (n.*1341+150_*1341+151insCTTGCC) c.944-5034_944-5033insCTTGCC (n.944-5034_944-5033insCTTGCC) c.1172+107_1172+108insCTTGCC (n.1172+107_1172+108insCTTGCC) c.*791+150_*791+151insCTTGCC (n.*791+150_*791+151insCTTGCC) c.*687+150_*687+151insCTTGCC (n.*687+150_*687+151insCTTGCC) c.1030+150_1030+151insCTTGCC (n.1030+150_1030+151insCTTGCC) c.*1218+150_*1218+151insCTTGCC (n.*1218+150_*1218+151insCTTGCC) c.880+150_880+151insCTTGCC (n.880+150_880+151insCTTGCC) c.*1068+150_*1068+151insCTTGCC (n.*1068+150_*1068+151insCTTGCC) c.*909+150_*909+151insCTTGCC (n.*909+150_*909+151insCTTGCC) c.*569+150_*569+151insCTTGCC (n.*569+150_*569+151insCTTGCC) c.1156+150_1156+151insCTTGCC (n.1156+150_1156+151insCTTGCC) c.*597+150_*597+151insCTTGCC (n.*597+150_*597+151insCTTGCC) n.1527+150_1527+151insCTTGCC n.2840+150_2840+151insCTTGCC n.340+150_340+151insCTTGCC n.2128+150_2128+151insCTTGCC n.1264+150_1264+151insCTTGCC c.1018+150_1018+151insCTTGCC (n.1018+150_1018+151insCTTGCC) c.853+150_853+151insCTTGCC (n.853+150_853+151insCTTGCC) c.1221+150_1221+151insCTTGCC (n.1221+150_1221+151insCTTGCC) c.1209+150_1209+151insCTTGCC (n.1209+150_1209+151insCTTGCC) n.494+150_494+151insCTTGCC c.956-5034_956-5033insCTTGCC (n.956-5034_956-5033insCTTGCC) | |
14 | g.73212093T>A | CA2625561496 | PSEN1 | c.1117+151T>A (n.1117+151T>A) c.1129+151T>A (n.1129+151T>A) n.1879+151T>A c.*84+151T>A (n.*84+151T>A) n.1555+151T>A c.1009+151T>A (n.1009+151T>A) c.*1073+151T>A (n.*1073+151T>A) n.6679+151T>A c.*1341+151T>A (n.*1341+151T>A) c.944-5033T>A (n.944-5033T>A) c.1172+108T>A (n.1172+108T>A) c.*791+151T>A (n.*791+151T>A) c.*687+151T>A (n.*687+151T>A) c.1030+151T>A (n.1030+151T>A) c.*1218+151T>A (n.*1218+151T>A) c.880+151T>A (n.880+151T>A) c.*1068+151T>A (n.*1068+151T>A) c.*909+151T>A (n.*909+151T>A) c.*569+151T>A (n.*569+151T>A) c.1156+151T>A (n.1156+151T>A) c.*597+151T>A (n.*597+151T>A) n.1527+151T>A n.2840+151T>A n.340+151T>A n.2128+151T>A n.1264+151T>A c.1018+151T>A (n.1018+151T>A) c.853+151T>A (n.853+151T>A) c.1221+151T>A (n.1221+151T>A) c.1209+151T>A (n.1209+151T>A) n.494+151T>A c.956-5033T>A (n.956-5033T>A) | gnomAD v4 |
14 | g.73212093T>C | CA262618863 | PSEN1 | c.1117+151T>C (n.1117+151T>C) c.1129+151T>C (n.1129+151T>C) n.1879+151T>C c.*84+151T>C (n.*84+151T>C) n.1555+151T>C c.1009+151T>C (n.1009+151T>C) c.*1073+151T>C (n.*1073+151T>C) n.6679+151T>C c.*1341+151T>C (n.*1341+151T>C) c.944-5033T>C (n.944-5033T>C) c.1172+108T>C (n.1172+108T>C) c.*791+151T>C (n.*791+151T>C) c.*687+151T>C (n.*687+151T>C) c.1030+151T>C (n.1030+151T>C) c.*1218+151T>C (n.*1218+151T>C) c.880+151T>C (n.880+151T>C) c.*1068+151T>C (n.*1068+151T>C) c.*909+151T>C (n.*909+151T>C) c.*569+151T>C (n.*569+151T>C) c.1156+151T>C (n.1156+151T>C) c.*597+151T>C (n.*597+151T>C) n.1527+151T>C n.2840+151T>C n.340+151T>C n.2128+151T>C n.1264+151T>C c.1018+151T>C (n.1018+151T>C) c.853+151T>C (n.853+151T>C) c.1221+151T>C (n.1221+151T>C) c.1209+151T>C (n.1209+151T>C) n.494+151T>C c.956-5033T>C (n.956-5033T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212093T>G | CA2625561497 | PSEN1 | c.1117+151T>G (n.1117+151T>G) c.1129+151T>G (n.1129+151T>G) n.1879+151T>G c.*84+151T>G (n.*84+151T>G) n.1555+151T>G c.1009+151T>G (n.1009+151T>G) c.*1073+151T>G (n.*1073+151T>G) n.6679+151T>G c.*1341+151T>G (n.*1341+151T>G) c.944-5033T>G (n.944-5033T>G) c.1172+108T>G (n.1172+108T>G) c.*791+151T>G (n.*791+151T>G) c.*687+151T>G (n.*687+151T>G) c.1030+151T>G (n.1030+151T>G) c.*1218+151T>G (n.*1218+151T>G) c.880+151T>G (n.880+151T>G) c.*1068+151T>G (n.*1068+151T>G) c.*909+151T>G (n.*909+151T>G) c.*569+151T>G (n.*569+151T>G) c.1156+151T>G (n.1156+151T>G) c.*597+151T>G (n.*597+151T>G) n.1527+151T>G n.2840+151T>G n.340+151T>G n.2128+151T>G n.1264+151T>G c.1018+151T>G (n.1018+151T>G) c.853+151T>G (n.853+151T>G) c.1221+151T>G (n.1221+151T>G) c.1209+151T>G (n.1209+151T>G) n.494+151T>G c.956-5033T>G (n.956-5033T>G) | gnomAD v4 |
14 | g.73212093T= | CA2146495562 | PSEN1 | c.1117+151T= (n.1117+151T=) c.1129+151T= (n.1129+151T=) n.1879+151T= c.*84+151T= (n.*84+151T=) n.1555+151T= c.1009+151T= (n.1009+151T=) c.*1073+151T= (n.*1073+151T=) n.6679+151T= c.*1341+151T= (n.*1341+151T=) c.944-5033T= (n.944-5033T=) c.1172+108T= (n.1172+108T=) c.*791+151T= (n.*791+151T=) c.*687+151T= (n.*687+151T=) c.1030+151T= (n.1030+151T=) c.*1218+151T= (n.*1218+151T=) c.880+151T= (n.880+151T=) c.*1068+151T= (n.*1068+151T=) c.*909+151T= (n.*909+151T=) c.*569+151T= (n.*569+151T=) c.1156+151T= (n.1156+151T=) c.*597+151T= (n.*597+151T=) n.1527+151T= n.2840+151T= n.340+151T= n.2128+151T= n.1264+151T= c.1018+151T= (n.1018+151T=) c.853+151T= (n.853+151T=) c.1221+151T= (n.1221+151T=) c.1209+151T= (n.1209+151T=) n.494+151T= c.956-5033T= (n.956-5033T=) | |
14 | g.73212094T>A | CA2563480497 | PSEN1 | c.1117+152T>A (n.1117+152T>A) c.1129+152T>A (n.1129+152T>A) n.1879+152T>A c.*84+152T>A (n.*84+152T>A) n.1555+152T>A c.1009+152T>A (n.1009+152T>A) c.*1073+152T>A (n.*1073+152T>A) n.6679+152T>A c.*1341+152T>A (n.*1341+152T>A) c.944-5032T>A (n.944-5032T>A) c.1172+109T>A (n.1172+109T>A) c.*791+152T>A (n.*791+152T>A) c.*687+152T>A (n.*687+152T>A) c.1030+152T>A (n.1030+152T>A) c.*1218+152T>A (n.*1218+152T>A) c.880+152T>A (n.880+152T>A) c.*1068+152T>A (n.*1068+152T>A) c.*909+152T>A (n.*909+152T>A) c.*569+152T>A (n.*569+152T>A) c.1156+152T>A (n.1156+152T>A) c.*597+152T>A (n.*597+152T>A) n.1527+152T>A n.2840+152T>A n.340+152T>A n.2128+152T>A n.1264+152T>A c.1018+152T>A (n.1018+152T>A) c.853+152T>A (n.853+152T>A) c.1221+152T>A (n.1221+152T>A) c.1209+152T>A (n.1209+152T>A) n.494+152T>A c.956-5032T>A (n.956-5032T>A) | |
14 | g.73212094T>C | CA964614971 | PSEN1 | c.1117+152T>C (n.1117+152T>C) c.1129+152T>C (n.1129+152T>C) n.1879+152T>C c.*84+152T>C (n.*84+152T>C) n.1555+152T>C c.1009+152T>C (n.1009+152T>C) c.*1073+152T>C (n.*1073+152T>C) n.6679+152T>C c.*1341+152T>C (n.*1341+152T>C) c.944-5032T>C (n.944-5032T>C) c.1172+109T>C (n.1172+109T>C) c.*791+152T>C (n.*791+152T>C) c.*687+152T>C (n.*687+152T>C) c.1030+152T>C (n.1030+152T>C) c.*1218+152T>C (n.*1218+152T>C) c.880+152T>C (n.880+152T>C) c.*1068+152T>C (n.*1068+152T>C) c.*909+152T>C (n.*909+152T>C) c.*569+152T>C (n.*569+152T>C) c.1156+152T>C (n.1156+152T>C) c.*597+152T>C (n.*597+152T>C) n.1527+152T>C n.2840+152T>C n.340+152T>C n.2128+152T>C n.1264+152T>C c.1018+152T>C (n.1018+152T>C) c.853+152T>C (n.853+152T>C) c.1221+152T>C (n.1221+152T>C) c.1209+152T>C (n.1209+152T>C) n.494+152T>C c.956-5032T>C (n.956-5032T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212094T= | CA2146495563 | PSEN1 | c.1117+152T= (n.1117+152T=) c.1129+152T= (n.1129+152T=) n.1879+152T= c.*84+152T= (n.*84+152T=) n.1555+152T= c.1009+152T= (n.1009+152T=) c.*1073+152T= (n.*1073+152T=) n.6679+152T= c.*1341+152T= (n.*1341+152T=) c.944-5032T= (n.944-5032T=) c.1172+109T= (n.1172+109T=) c.*791+152T= (n.*791+152T=) c.*687+152T= (n.*687+152T=) c.1030+152T= (n.1030+152T=) c.*1218+152T= (n.*1218+152T=) c.880+152T= (n.880+152T=) c.*1068+152T= (n.*1068+152T=) c.*909+152T= (n.*909+152T=) c.*569+152T= (n.*569+152T=) c.1156+152T= (n.1156+152T=) c.*597+152T= (n.*597+152T=) n.1527+152T= n.2840+152T= n.340+152T= n.2128+152T= n.1264+152T= c.1018+152T= (n.1018+152T=) c.853+152T= (n.853+152T=) c.1221+152T= (n.1221+152T=) c.1209+152T= (n.1209+152T=) n.494+152T= c.956-5032T= (n.956-5032T=) | |
14 | g.73212095T>A | CA2562741924 | PSEN1 | c.1117+153T>A (n.1117+153T>A) c.1129+153T>A (n.1129+153T>A) n.1879+153T>A c.*84+153T>A (n.*84+153T>A) n.1555+153T>A c.1009+153T>A (n.1009+153T>A) c.*1073+153T>A (n.*1073+153T>A) n.6679+153T>A c.*1341+153T>A (n.*1341+153T>A) c.944-5031T>A (n.944-5031T>A) c.1172+110T>A (n.1172+110T>A) c.*791+153T>A (n.*791+153T>A) c.*687+153T>A (n.*687+153T>A) c.1030+153T>A (n.1030+153T>A) c.*1218+153T>A (n.*1218+153T>A) c.880+153T>A (n.880+153T>A) c.*1068+153T>A (n.*1068+153T>A) c.*909+153T>A (n.*909+153T>A) c.*569+153T>A (n.*569+153T>A) c.1156+153T>A (n.1156+153T>A) c.*597+153T>A (n.*597+153T>A) n.1527+153T>A n.2840+153T>A n.340+153T>A n.2128+153T>A n.1264+153T>A c.1018+153T>A (n.1018+153T>A) c.853+153T>A (n.853+153T>A) c.1221+153T>A (n.1221+153T>A) c.1209+153T>A (n.1209+153T>A) n.494+153T>A c.956-5031T>A (n.956-5031T>A) | |
14 | g.73212095T>C | CA615000751 | PSEN1 | c.1117+153T>C (n.1117+153T>C) c.1129+153T>C (n.1129+153T>C) n.1879+153T>C c.*84+153T>C (n.*84+153T>C) n.1555+153T>C c.1009+153T>C (n.1009+153T>C) c.*1073+153T>C (n.*1073+153T>C) n.6679+153T>C c.*1341+153T>C (n.*1341+153T>C) c.944-5031T>C (n.944-5031T>C) c.1172+110T>C (n.1172+110T>C) c.*791+153T>C (n.*791+153T>C) c.*687+153T>C (n.*687+153T>C) c.1030+153T>C (n.1030+153T>C) c.*1218+153T>C (n.*1218+153T>C) c.880+153T>C (n.880+153T>C) c.*1068+153T>C (n.*1068+153T>C) c.*909+153T>C (n.*909+153T>C) c.*569+153T>C (n.*569+153T>C) c.1156+153T>C (n.1156+153T>C) c.*597+153T>C (n.*597+153T>C) n.1527+153T>C n.2840+153T>C n.340+153T>C n.2128+153T>C n.1264+153T>C c.1018+153T>C (n.1018+153T>C) c.853+153T>C (n.853+153T>C) c.1221+153T>C (n.1221+153T>C) c.1209+153T>C (n.1209+153T>C) n.494+153T>C c.956-5031T>C (n.956-5031T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212095T= | CA2146495564 | PSEN1 | c.1117+153T= (n.1117+153T=) c.1129+153T= (n.1129+153T=) n.1879+153T= c.*84+153T= (n.*84+153T=) n.1555+153T= c.1009+153T= (n.1009+153T=) c.*1073+153T= (n.*1073+153T=) n.6679+153T= c.*1341+153T= (n.*1341+153T=) c.944-5031T= (n.944-5031T=) c.1172+110T= (n.1172+110T=) c.*791+153T= (n.*791+153T=) c.*687+153T= (n.*687+153T=) c.1030+153T= (n.1030+153T=) c.*1218+153T= (n.*1218+153T=) c.880+153T= (n.880+153T=) c.*1068+153T= (n.*1068+153T=) c.*909+153T= (n.*909+153T=) c.*569+153T= (n.*569+153T=) c.1156+153T= (n.1156+153T=) c.*597+153T= (n.*597+153T=) n.1527+153T= n.2840+153T= n.340+153T= n.2128+153T= n.1264+153T= c.1018+153T= (n.1018+153T=) c.853+153T= (n.853+153T=) c.1221+153T= (n.1221+153T=) c.1209+153T= (n.1209+153T=) n.494+153T= c.956-5031T= (n.956-5031T=) | |
14 | g.73212104_73212105insCTTTTTTTTTT | CA964614973 | PSEN1 | c.1117+162_1117+163insCTTTTTTTTTT (n.1117+162_1117+163insCTTTTTTTTTT) c.1129+162_1129+163insCTTTTTTTTTT (n.1129+162_1129+163insCTTTTTTTTTT) n.1879+162_1879+163insCTTTTTTTTTT c.*84+162_*84+163insCTTTTTTTTTT (n.*84+162_*84+163insCTTTTTTTTTT) n.1555+162_1555+163insCTTTTTTTTTT c.1009+162_1009+163insCTTTTTTTTTT (n.1009+162_1009+163insCTTTTTTTTTT) c.*1073+162_*1073+163insCTTTTTTTTTT (n.*1073+162_*1073+163insCTTTTTTTTTT) n.6679+162_6679+163insCTTTTTTTTTT c.*1341+162_*1341+163insCTTTTTTTTTT (n.*1341+162_*1341+163insCTTTTTTTTTT) c.944-5022_944-5021insCTTTTTTTTTT (n.944-5022_944-5021insCTTTTTTTTTT) c.1172+119_1172+120insCTTTTTTTTTT (n.1172+119_1172+120insCTTTTTTTTTT) c.*791+162_*791+163insCTTTTTTTTTT (n.*791+162_*791+163insCTTTTTTTTTT) c.*687+162_*687+163insCTTTTTTTTTT (n.*687+162_*687+163insCTTTTTTTTTT) c.1030+162_1030+163insCTTTTTTTTTT (n.1030+162_1030+163insCTTTTTTTTTT) c.*1218+162_*1218+163insCTTTTTTTTTT (n.*1218+162_*1218+163insCTTTTTTTTTT) c.880+162_880+163insCTTTTTTTTTT (n.880+162_880+163insCTTTTTTTTTT) c.*1068+162_*1068+163insCTTTTTTTTTT (n.*1068+162_*1068+163insCTTTTTTTTTT) c.*909+162_*909+163insCTTTTTTTTTT (n.*909+162_*909+163insCTTTTTTTTTT) c.*569+162_*569+163insCTTTTTTTTTT (n.*569+162_*569+163insCTTTTTTTTTT) c.1156+162_1156+163insCTTTTTTTTTT (n.1156+162_1156+163insCTTTTTTTTTT) c.*597+162_*597+163insCTTTTTTTTTT (n.*597+162_*597+163insCTTTTTTTTTT) n.1527+162_1527+163insCTTTTTTTTTT n.2840+162_2840+163insCTTTTTTTTTT n.340+162_340+163insCTTTTTTTTTT n.2128+162_2128+163insCTTTTTTTTTT n.1264+162_1264+163insCTTTTTTTTTT c.1018+162_1018+163insCTTTTTTTTTT (n.1018+162_1018+163insCTTTTTTTTTT) c.853+162_853+163insCTTTTTTTTTT (n.853+162_853+163insCTTTTTTTTTT) c.1221+162_1221+163insCTTTTTTTTTT (n.1221+162_1221+163insCTTTTTTTTTT) c.1209+162_1209+163insCTTTTTTTTTT (n.1209+162_1209+163insCTTTTTTTTTT) n.494+162_494+163insCTTTTTTTTTT c.956-5022_956-5021insCTTTTTTTTTT (n.956-5022_956-5021insCTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212096T>C | CA615000752 | PSEN1 | c.1117+154T>C (n.1117+154T>C) c.1129+154T>C (n.1129+154T>C) n.1879+154T>C c.*84+154T>C (n.*84+154T>C) n.1555+154T>C c.1009+154T>C (n.1009+154T>C) c.*1073+154T>C (n.*1073+154T>C) n.6679+154T>C c.*1341+154T>C (n.*1341+154T>C) c.944-5030T>C (n.944-5030T>C) c.1172+111T>C (n.1172+111T>C) c.*791+154T>C (n.*791+154T>C) c.*687+154T>C (n.*687+154T>C) c.1030+154T>C (n.1030+154T>C) c.*1218+154T>C (n.*1218+154T>C) c.880+154T>C (n.880+154T>C) c.*1068+154T>C (n.*1068+154T>C) c.*909+154T>C (n.*909+154T>C) c.*569+154T>C (n.*569+154T>C) c.1156+154T>C (n.1156+154T>C) c.*597+154T>C (n.*597+154T>C) n.1527+154T>C n.2840+154T>C n.340+154T>C n.2128+154T>C n.1264+154T>C c.1018+154T>C (n.1018+154T>C) c.853+154T>C (n.853+154T>C) c.1221+154T>C (n.1221+154T>C) c.1209+154T>C (n.1209+154T>C) n.494+154T>C c.956-5030T>C (n.956-5030T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212096T= | CA2146495565 | PSEN1 | c.1117+154T= (n.1117+154T=) c.1129+154T= (n.1129+154T=) n.1879+154T= c.*84+154T= (n.*84+154T=) n.1555+154T= c.1009+154T= (n.1009+154T=) c.*1073+154T= (n.*1073+154T=) n.6679+154T= c.*1341+154T= (n.*1341+154T=) c.944-5030T= (n.944-5030T=) c.1172+111T= (n.1172+111T=) c.*791+154T= (n.*791+154T=) c.*687+154T= (n.*687+154T=) c.1030+154T= (n.1030+154T=) c.*1218+154T= (n.*1218+154T=) c.880+154T= (n.880+154T=) c.*1068+154T= (n.*1068+154T=) c.*909+154T= (n.*909+154T=) c.*569+154T= (n.*569+154T=) c.1156+154T= (n.1156+154T=) c.*597+154T= (n.*597+154T=) n.1527+154T= n.2840+154T= n.340+154T= n.2128+154T= n.1264+154T= c.1018+154T= (n.1018+154T=) c.853+154T= (n.853+154T=) c.1221+154T= (n.1221+154T=) c.1209+154T= (n.1209+154T=) n.494+154T= c.956-5030T= (n.956-5030T=) | |
14 | g.73212105_73212106insCTTTTTTTTTT | CA2802117610 | PSEN1 | c.1117+163_1117+164insCTTTTTTTTTT (n.1117+163_1117+164insCTTTTTTTTTT) c.1129+163_1129+164insCTTTTTTTTTT (n.1129+163_1129+164insCTTTTTTTTTT) n.1879+163_1879+164insCTTTTTTTTTT c.*84+163_*84+164insCTTTTTTTTTT (n.*84+163_*84+164insCTTTTTTTTTT) n.1555+163_1555+164insCTTTTTTTTTT c.1009+163_1009+164insCTTTTTTTTTT (n.1009+163_1009+164insCTTTTTTTTTT) c.*1073+163_*1073+164insCTTTTTTTTTT (n.*1073+163_*1073+164insCTTTTTTTTTT) n.6679+163_6679+164insCTTTTTTTTTT c.*1341+163_*1341+164insCTTTTTTTTTT (n.*1341+163_*1341+164insCTTTTTTTTTT) c.944-5021_944-5020insCTTTTTTTTTT (n.944-5021_944-5020insCTTTTTTTTTT) c.1172+120_1172+121insCTTTTTTTTTT (n.1172+120_1172+121insCTTTTTTTTTT) c.*791+163_*791+164insCTTTTTTTTTT (n.*791+163_*791+164insCTTTTTTTTTT) c.*687+163_*687+164insCTTTTTTTTTT (n.*687+163_*687+164insCTTTTTTTTTT) c.1030+163_1030+164insCTTTTTTTTTT (n.1030+163_1030+164insCTTTTTTTTTT) c.*1218+163_*1218+164insCTTTTTTTTTT (n.*1218+163_*1218+164insCTTTTTTTTTT) c.880+163_880+164insCTTTTTTTTTT (n.880+163_880+164insCTTTTTTTTTT) c.*1068+163_*1068+164insCTTTTTTTTTT (n.*1068+163_*1068+164insCTTTTTTTTTT) c.*909+163_*909+164insCTTTTTTTTTT (n.*909+163_*909+164insCTTTTTTTTTT) c.*569+163_*569+164insCTTTTTTTTTT (n.*569+163_*569+164insCTTTTTTTTTT) c.1156+163_1156+164insCTTTTTTTTTT (n.1156+163_1156+164insCTTTTTTTTTT) c.*597+163_*597+164insCTTTTTTTTTT (n.*597+163_*597+164insCTTTTTTTTTT) n.1527+163_1527+164insCTTTTTTTTTT n.2840+163_2840+164insCTTTTTTTTTT n.340+163_340+164insCTTTTTTTTTT n.2128+163_2128+164insCTTTTTTTTTT n.1264+163_1264+164insCTTTTTTTTTT c.1018+163_1018+164insCTTTTTTTTTT (n.1018+163_1018+164insCTTTTTTTTTT) c.853+163_853+164insCTTTTTTTTTT (n.853+163_853+164insCTTTTTTTTTT) c.1221+163_1221+164insCTTTTTTTTTT (n.1221+163_1221+164insCTTTTTTTTTT) c.1209+163_1209+164insCTTTTTTTTTT (n.1209+163_1209+164insCTTTTTTTTTT) n.494+163_494+164insCTTTTTTTTTT c.956-5021_956-5020insCTTTTTTTTTT (n.956-5021_956-5020insCTTTTTTTTTT) | |
14 | g.73212097T>C | CA964614980 | PSEN1 | c.1117+155T>C (n.1117+155T>C) c.1129+155T>C (n.1129+155T>C) n.1879+155T>C c.*84+155T>C (n.*84+155T>C) n.1555+155T>C c.1009+155T>C (n.1009+155T>C) c.*1073+155T>C (n.*1073+155T>C) n.6679+155T>C c.*1341+155T>C (n.*1341+155T>C) c.944-5029T>C (n.944-5029T>C) c.1172+112T>C (n.1172+112T>C) c.*791+155T>C (n.*791+155T>C) c.*687+155T>C (n.*687+155T>C) c.1030+155T>C (n.1030+155T>C) c.*1218+155T>C (n.*1218+155T>C) c.880+155T>C (n.880+155T>C) c.*1068+155T>C (n.*1068+155T>C) c.*909+155T>C (n.*909+155T>C) c.*569+155T>C (n.*569+155T>C) c.1156+155T>C (n.1156+155T>C) c.*597+155T>C (n.*597+155T>C) n.1527+155T>C n.2840+155T>C n.340+155T>C n.2128+155T>C n.1264+155T>C c.1018+155T>C (n.1018+155T>C) c.853+155T>C (n.853+155T>C) c.1221+155T>C (n.1221+155T>C) c.1209+155T>C (n.1209+155T>C) n.494+155T>C c.956-5029T>C (n.956-5029T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212097T>G | CA708388950 | PSEN1 | c.1117+155T>G (n.1117+155T>G) c.1129+155T>G (n.1129+155T>G) n.1879+155T>G c.*84+155T>G (n.*84+155T>G) n.1555+155T>G c.1009+155T>G (n.1009+155T>G) c.*1073+155T>G (n.*1073+155T>G) n.6679+155T>G c.*1341+155T>G (n.*1341+155T>G) c.944-5029T>G (n.944-5029T>G) c.1172+112T>G (n.1172+112T>G) c.*791+155T>G (n.*791+155T>G) c.*687+155T>G (n.*687+155T>G) c.1030+155T>G (n.1030+155T>G) c.*1218+155T>G (n.*1218+155T>G) c.880+155T>G (n.880+155T>G) c.*1068+155T>G (n.*1068+155T>G) c.*909+155T>G (n.*909+155T>G) c.*569+155T>G (n.*569+155T>G) c.1156+155T>G (n.1156+155T>G) c.*597+155T>G (n.*597+155T>G) n.1527+155T>G n.2840+155T>G n.340+155T>G n.2128+155T>G n.1264+155T>G c.1018+155T>G (n.1018+155T>G) c.853+155T>G (n.853+155T>G) c.1221+155T>G (n.1221+155T>G) c.1209+155T>G (n.1209+155T>G) n.494+155T>G c.956-5029T>G (n.956-5029T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212097T= | CA2146495566 | PSEN1 | c.1117+155T= (n.1117+155T=) c.1129+155T= (n.1129+155T=) n.1879+155T= c.*84+155T= (n.*84+155T=) n.1555+155T= c.1009+155T= (n.1009+155T=) c.*1073+155T= (n.*1073+155T=) n.6679+155T= c.*1341+155T= (n.*1341+155T=) c.944-5029T= (n.944-5029T=) c.1172+112T= (n.1172+112T=) c.*791+155T= (n.*791+155T=) c.*687+155T= (n.*687+155T=) c.1030+155T= (n.1030+155T=) c.*1218+155T= (n.*1218+155T=) c.880+155T= (n.880+155T=) c.*1068+155T= (n.*1068+155T=) c.*909+155T= (n.*909+155T=) c.*569+155T= (n.*569+155T=) c.1156+155T= (n.1156+155T=) c.*597+155T= (n.*597+155T=) n.1527+155T= n.2840+155T= n.340+155T= n.2128+155T= n.1264+155T= c.1018+155T= (n.1018+155T=) c.853+155T= (n.853+155T=) c.1221+155T= (n.1221+155T=) c.1209+155T= (n.1209+155T=) n.494+155T= c.956-5029T= (n.956-5029T=) | |
14 | g.73212098T>A | CA2539122947 | PSEN1 | c.1117+156T>A (n.1117+156T>A) c.1129+156T>A (n.1129+156T>A) n.1879+156T>A c.*84+156T>A (n.*84+156T>A) n.1555+156T>A c.1009+156T>A (n.1009+156T>A) c.*1073+156T>A (n.*1073+156T>A) n.6679+156T>A c.*1341+156T>A (n.*1341+156T>A) c.944-5028T>A (n.944-5028T>A) c.1172+113T>A (n.1172+113T>A) c.*791+156T>A (n.*791+156T>A) c.*687+156T>A (n.*687+156T>A) c.1030+156T>A (n.1030+156T>A) c.*1218+156T>A (n.*1218+156T>A) c.880+156T>A (n.880+156T>A) c.*1068+156T>A (n.*1068+156T>A) c.*909+156T>A (n.*909+156T>A) c.*569+156T>A (n.*569+156T>A) c.1156+156T>A (n.1156+156T>A) c.*597+156T>A (n.*597+156T>A) n.1527+156T>A n.2840+156T>A n.340+156T>A n.2128+156T>A n.1264+156T>A c.1018+156T>A (n.1018+156T>A) c.853+156T>A (n.853+156T>A) c.1221+156T>A (n.1221+156T>A) c.1209+156T>A (n.1209+156T>A) n.494+156T>A c.956-5028T>A (n.956-5028T>A) | |
14 | g.73212098T>C | CA964614982 | PSEN1 | c.1117+156T>C (n.1117+156T>C) c.1129+156T>C (n.1129+156T>C) n.1879+156T>C c.*84+156T>C (n.*84+156T>C) n.1555+156T>C c.1009+156T>C (n.1009+156T>C) c.*1073+156T>C (n.*1073+156T>C) n.6679+156T>C c.*1341+156T>C (n.*1341+156T>C) c.944-5028T>C (n.944-5028T>C) c.1172+113T>C (n.1172+113T>C) c.*791+156T>C (n.*791+156T>C) c.*687+156T>C (n.*687+156T>C) c.1030+156T>C (n.1030+156T>C) c.*1218+156T>C (n.*1218+156T>C) c.880+156T>C (n.880+156T>C) c.*1068+156T>C (n.*1068+156T>C) c.*909+156T>C (n.*909+156T>C) c.*569+156T>C (n.*569+156T>C) c.1156+156T>C (n.1156+156T>C) c.*597+156T>C (n.*597+156T>C) n.1527+156T>C n.2840+156T>C n.340+156T>C n.2128+156T>C n.1264+156T>C c.1018+156T>C (n.1018+156T>C) c.853+156T>C (n.853+156T>C) c.1221+156T>C (n.1221+156T>C) c.1209+156T>C (n.1209+156T>C) n.494+156T>C c.956-5028T>C (n.956-5028T>C) | dbSNP |
14 | g.73212098T= | CA2146495567 | PSEN1 | c.1117+156T= (n.1117+156T=) c.1129+156T= (n.1129+156T=) n.1879+156T= c.*84+156T= (n.*84+156T=) n.1555+156T= c.1009+156T= (n.1009+156T=) c.*1073+156T= (n.*1073+156T=) n.6679+156T= c.*1341+156T= (n.*1341+156T=) c.944-5028T= (n.944-5028T=) c.1172+113T= (n.1172+113T=) c.*791+156T= (n.*791+156T=) c.*687+156T= (n.*687+156T=) c.1030+156T= (n.1030+156T=) c.*1218+156T= (n.*1218+156T=) c.880+156T= (n.880+156T=) c.*1068+156T= (n.*1068+156T=) c.*909+156T= (n.*909+156T=) c.*569+156T= (n.*569+156T=) c.1156+156T= (n.1156+156T=) c.*597+156T= (n.*597+156T=) n.1527+156T= n.2840+156T= n.340+156T= n.2128+156T= n.1264+156T= c.1018+156T= (n.1018+156T=) c.853+156T= (n.853+156T=) c.1221+156T= (n.1221+156T=) c.1209+156T= (n.1209+156T=) n.494+156T= c.956-5028T= (n.956-5028T=) | |
14 | g.73212099T>C | CA2534400046 | PSEN1 | c.1117+157T>C (n.1117+157T>C) c.1129+157T>C (n.1129+157T>C) n.1879+157T>C c.*84+157T>C (n.*84+157T>C) n.1555+157T>C c.1009+157T>C (n.1009+157T>C) c.*1073+157T>C (n.*1073+157T>C) n.6679+157T>C c.*1341+157T>C (n.*1341+157T>C) c.944-5027T>C (n.944-5027T>C) c.1172+114T>C (n.1172+114T>C) c.*791+157T>C (n.*791+157T>C) c.*687+157T>C (n.*687+157T>C) c.1030+157T>C (n.1030+157T>C) c.*1218+157T>C (n.*1218+157T>C) c.880+157T>C (n.880+157T>C) c.*1068+157T>C (n.*1068+157T>C) c.*909+157T>C (n.*909+157T>C) c.*569+157T>C (n.*569+157T>C) c.1156+157T>C (n.1156+157T>C) c.*597+157T>C (n.*597+157T>C) n.1527+157T>C n.2840+157T>C n.340+157T>C n.2128+157T>C n.1264+157T>C c.1018+157T>C (n.1018+157T>C) c.853+157T>C (n.853+157T>C) c.1221+157T>C (n.1221+157T>C) c.1209+157T>C (n.1209+157T>C) n.494+157T>C c.956-5027T>C (n.956-5027T>C) | |
14 | g.73212099T= | CA2146495568 | PSEN1 | c.1117+157T= (n.1117+157T=) c.1129+157T= (n.1129+157T=) n.1879+157T= c.*84+157T= (n.*84+157T=) n.1555+157T= c.1009+157T= (n.1009+157T=) c.*1073+157T= (n.*1073+157T=) n.6679+157T= c.*1341+157T= (n.*1341+157T=) c.944-5027T= (n.944-5027T=) c.1172+114T= (n.1172+114T=) c.*791+157T= (n.*791+157T=) c.*687+157T= (n.*687+157T=) c.1030+157T= (n.1030+157T=) c.*1218+157T= (n.*1218+157T=) c.880+157T= (n.880+157T=) c.*1068+157T= (n.*1068+157T=) c.*909+157T= (n.*909+157T=) c.*569+157T= (n.*569+157T=) c.1156+157T= (n.1156+157T=) c.*597+157T= (n.*597+157T=) n.1527+157T= n.2840+157T= n.340+157T= n.2128+157T= n.1264+157T= c.1018+157T= (n.1018+157T=) c.853+157T= (n.853+157T=) c.1221+157T= (n.1221+157T=) c.1209+157T= (n.1209+157T=) n.494+157T= c.956-5027T= (n.956-5027T=) | |
14 | g.73212105_73212106insCTTTTTTT | CA964614984 | PSEN1 | c.1117+163_1117+164insCTTTTTTT (n.1117+163_1117+164insCTTTTTTT) c.1129+163_1129+164insCTTTTTTT (n.1129+163_1129+164insCTTTTTTT) n.1879+163_1879+164insCTTTTTTT c.*84+163_*84+164insCTTTTTTT (n.*84+163_*84+164insCTTTTTTT) n.1555+163_1555+164insCTTTTTTT c.1009+163_1009+164insCTTTTTTT (n.1009+163_1009+164insCTTTTTTT) c.*1073+163_*1073+164insCTTTTTTT (n.*1073+163_*1073+164insCTTTTTTT) n.6679+163_6679+164insCTTTTTTT c.*1341+163_*1341+164insCTTTTTTT (n.*1341+163_*1341+164insCTTTTTTT) c.944-5021_944-5020insCTTTTTTT (n.944-5021_944-5020insCTTTTTTT) c.1172+120_1172+121insCTTTTTTT (n.1172+120_1172+121insCTTTTTTT) c.*791+163_*791+164insCTTTTTTT (n.*791+163_*791+164insCTTTTTTT) c.*687+163_*687+164insCTTTTTTT (n.*687+163_*687+164insCTTTTTTT) c.1030+163_1030+164insCTTTTTTT (n.1030+163_1030+164insCTTTTTTT) c.*1218+163_*1218+164insCTTTTTTT (n.*1218+163_*1218+164insCTTTTTTT) c.880+163_880+164insCTTTTTTT (n.880+163_880+164insCTTTTTTT) c.*1068+163_*1068+164insCTTTTTTT (n.*1068+163_*1068+164insCTTTTTTT) c.*909+163_*909+164insCTTTTTTT (n.*909+163_*909+164insCTTTTTTT) c.*569+163_*569+164insCTTTTTTT (n.*569+163_*569+164insCTTTTTTT) c.1156+163_1156+164insCTTTTTTT (n.1156+163_1156+164insCTTTTTTT) c.*597+163_*597+164insCTTTTTTT (n.*597+163_*597+164insCTTTTTTT) n.1527+163_1527+164insCTTTTTTT n.2840+163_2840+164insCTTTTTTT n.340+163_340+164insCTTTTTTT n.2128+163_2128+164insCTTTTTTT n.1264+163_1264+164insCTTTTTTT c.1018+163_1018+164insCTTTTTTT (n.1018+163_1018+164insCTTTTTTT) c.853+163_853+164insCTTTTTTT (n.853+163_853+164insCTTTTTTT) c.1221+163_1221+164insCTTTTTTT (n.1221+163_1221+164insCTTTTTTT) c.1209+163_1209+164insCTTTTTTT (n.1209+163_1209+164insCTTTTTTT) n.494+163_494+164insCTTTTTTT c.956-5021_956-5020insCTTTTTTT (n.956-5021_956-5020insCTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212100T= | CA2146495569 | PSEN1 | c.1117+158T= (n.1117+158T=) c.1129+158T= (n.1129+158T=) n.1879+158T= c.*84+158T= (n.*84+158T=) n.1555+158T= c.1009+158T= (n.1009+158T=) c.*1073+158T= (n.*1073+158T=) n.6679+158T= c.*1341+158T= (n.*1341+158T=) c.944-5026T= (n.944-5026T=) c.1172+115T= (n.1172+115T=) c.*791+158T= (n.*791+158T=) c.*687+158T= (n.*687+158T=) c.1030+158T= (n.1030+158T=) c.*1218+158T= (n.*1218+158T=) c.880+158T= (n.880+158T=) c.*1068+158T= (n.*1068+158T=) c.*909+158T= (n.*909+158T=) c.*569+158T= (n.*569+158T=) c.1156+158T= (n.1156+158T=) c.*597+158T= (n.*597+158T=) n.1527+158T= n.2840+158T= n.340+158T= n.2128+158T= n.1264+158T= c.1018+158T= (n.1018+158T=) c.853+158T= (n.853+158T=) c.1221+158T= (n.1221+158T=) c.1209+158T= (n.1209+158T=) n.494+158T= c.956-5026T= (n.956-5026T=) | |
14 | g.73212104_73212105insGCTTTTT | CA964614997 | PSEN1 | c.1117+162_1117+163insGCTTTTT (n.1117+162_1117+163insGCTTTTT) c.1129+162_1129+163insGCTTTTT (n.1129+162_1129+163insGCTTTTT) n.1879+162_1879+163insGCTTTTT c.*84+162_*84+163insGCTTTTT (n.*84+162_*84+163insGCTTTTT) n.1555+162_1555+163insGCTTTTT c.1009+162_1009+163insGCTTTTT (n.1009+162_1009+163insGCTTTTT) c.*1073+162_*1073+163insGCTTTTT (n.*1073+162_*1073+163insGCTTTTT) n.6679+162_6679+163insGCTTTTT c.*1341+162_*1341+163insGCTTTTT (n.*1341+162_*1341+163insGCTTTTT) c.944-5022_944-5021insGCTTTTT (n.944-5022_944-5021insGCTTTTT) c.1172+119_1172+120insGCTTTTT (n.1172+119_1172+120insGCTTTTT) c.*791+162_*791+163insGCTTTTT (n.*791+162_*791+163insGCTTTTT) c.*687+162_*687+163insGCTTTTT (n.*687+162_*687+163insGCTTTTT) c.1030+162_1030+163insGCTTTTT (n.1030+162_1030+163insGCTTTTT) c.*1218+162_*1218+163insGCTTTTT (n.*1218+162_*1218+163insGCTTTTT) c.880+162_880+163insGCTTTTT (n.880+162_880+163insGCTTTTT) c.*1068+162_*1068+163insGCTTTTT (n.*1068+162_*1068+163insGCTTTTT) c.*909+162_*909+163insGCTTTTT (n.*909+162_*909+163insGCTTTTT) c.*569+162_*569+163insGCTTTTT (n.*569+162_*569+163insGCTTTTT) c.1156+162_1156+163insGCTTTTT (n.1156+162_1156+163insGCTTTTT) c.*597+162_*597+163insGCTTTTT (n.*597+162_*597+163insGCTTTTT) n.1527+162_1527+163insGCTTTTT n.2840+162_2840+163insGCTTTTT n.340+162_340+163insGCTTTTT n.2128+162_2128+163insGCTTTTT n.1264+162_1264+163insGCTTTTT c.1018+162_1018+163insGCTTTTT (n.1018+162_1018+163insGCTTTTT) c.853+162_853+163insGCTTTTT (n.853+162_853+163insGCTTTTT) c.1221+162_1221+163insGCTTTTT (n.1221+162_1221+163insGCTTTTT) c.1209+162_1209+163insGCTTTTT (n.1209+162_1209+163insGCTTTTT) n.494+162_494+163insGCTTTTT c.956-5022_956-5021insGCTTTTT (n.956-5022_956-5021insGCTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212105_73212106insCTTTTTT | CA615000753 | PSEN1 | c.1117+163_1117+164insCTTTTTT (n.1117+163_1117+164insCTTTTTT) c.1129+163_1129+164insCTTTTTT (n.1129+163_1129+164insCTTTTTT) n.1879+163_1879+164insCTTTTTT c.*84+163_*84+164insCTTTTTT (n.*84+163_*84+164insCTTTTTT) n.1555+163_1555+164insCTTTTTT c.1009+163_1009+164insCTTTTTT (n.1009+163_1009+164insCTTTTTT) c.*1073+163_*1073+164insCTTTTTT (n.*1073+163_*1073+164insCTTTTTT) n.6679+163_6679+164insCTTTTTT c.*1341+163_*1341+164insCTTTTTT (n.*1341+163_*1341+164insCTTTTTT) c.944-5021_944-5020insCTTTTTT (n.944-5021_944-5020insCTTTTTT) c.1172+120_1172+121insCTTTTTT (n.1172+120_1172+121insCTTTTTT) c.*791+163_*791+164insCTTTTTT (n.*791+163_*791+164insCTTTTTT) c.*687+163_*687+164insCTTTTTT (n.*687+163_*687+164insCTTTTTT) c.1030+163_1030+164insCTTTTTT (n.1030+163_1030+164insCTTTTTT) c.*1218+163_*1218+164insCTTTTTT (n.*1218+163_*1218+164insCTTTTTT) c.880+163_880+164insCTTTTTT (n.880+163_880+164insCTTTTTT) c.*1068+163_*1068+164insCTTTTTT (n.*1068+163_*1068+164insCTTTTTT) c.*909+163_*909+164insCTTTTTT (n.*909+163_*909+164insCTTTTTT) c.*569+163_*569+164insCTTTTTT (n.*569+163_*569+164insCTTTTTT) c.1156+163_1156+164insCTTTTTT (n.1156+163_1156+164insCTTTTTT) c.*597+163_*597+164insCTTTTTT (n.*597+163_*597+164insCTTTTTT) n.1527+163_1527+164insCTTTTTT n.2840+163_2840+164insCTTTTTT n.340+163_340+164insCTTTTTT n.2128+163_2128+164insCTTTTTT n.1264+163_1264+164insCTTTTTT c.1018+163_1018+164insCTTTTTT (n.1018+163_1018+164insCTTTTTT) c.853+163_853+164insCTTTTTT (n.853+163_853+164insCTTTTTT) c.1221+163_1221+164insCTTTTTT (n.1221+163_1221+164insCTTTTTT) c.1209+163_1209+164insCTTTTTT (n.1209+163_1209+164insCTTTTTT) n.494+163_494+164insCTTTTTT c.956-5021_956-5020insCTTTTTT (n.956-5021_956-5020insCTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212101T>C | CA2729783335 | PSEN1 | c.1117+159T>C (n.1117+159T>C) c.1129+159T>C (n.1129+159T>C) n.1879+159T>C c.*84+159T>C (n.*84+159T>C) n.1555+159T>C c.1009+159T>C (n.1009+159T>C) c.*1073+159T>C (n.*1073+159T>C) n.6679+159T>C c.*1341+159T>C (n.*1341+159T>C) c.944-5025T>C (n.944-5025T>C) c.1172+116T>C (n.1172+116T>C) c.*791+159T>C (n.*791+159T>C) c.*687+159T>C (n.*687+159T>C) c.1030+159T>C (n.1030+159T>C) c.*1218+159T>C (n.*1218+159T>C) c.880+159T>C (n.880+159T>C) c.*1068+159T>C (n.*1068+159T>C) c.*909+159T>C (n.*909+159T>C) c.*569+159T>C (n.*569+159T>C) c.1156+159T>C (n.1156+159T>C) c.*597+159T>C (n.*597+159T>C) n.1527+159T>C n.2840+159T>C n.340+159T>C n.2128+159T>C n.1264+159T>C c.1018+159T>C (n.1018+159T>C) c.853+159T>C (n.853+159T>C) c.1221+159T>C (n.1221+159T>C) c.1209+159T>C (n.1209+159T>C) n.494+159T>C c.956-5025T>C (n.956-5025T>C) | dbSNP |
14 | g.73212105_73212106insCTTTTT | CA615000758 | PSEN1 | c.1117+163_1117+164insCTTTTT (n.1117+163_1117+164insCTTTTT) c.1129+163_1129+164insCTTTTT (n.1129+163_1129+164insCTTTTT) n.1879+163_1879+164insCTTTTT c.*84+163_*84+164insCTTTTT (n.*84+163_*84+164insCTTTTT) n.1555+163_1555+164insCTTTTT c.1009+163_1009+164insCTTTTT (n.1009+163_1009+164insCTTTTT) c.*1073+163_*1073+164insCTTTTT (n.*1073+163_*1073+164insCTTTTT) n.6679+163_6679+164insCTTTTT c.*1341+163_*1341+164insCTTTTT (n.*1341+163_*1341+164insCTTTTT) c.944-5021_944-5020insCTTTTT (n.944-5021_944-5020insCTTTTT) c.1172+120_1172+121insCTTTTT (n.1172+120_1172+121insCTTTTT) c.*791+163_*791+164insCTTTTT (n.*791+163_*791+164insCTTTTT) c.*687+163_*687+164insCTTTTT (n.*687+163_*687+164insCTTTTT) c.1030+163_1030+164insCTTTTT (n.1030+163_1030+164insCTTTTT) c.*1218+163_*1218+164insCTTTTT (n.*1218+163_*1218+164insCTTTTT) c.880+163_880+164insCTTTTT (n.880+163_880+164insCTTTTT) c.*1068+163_*1068+164insCTTTTT (n.*1068+163_*1068+164insCTTTTT) c.*909+163_*909+164insCTTTTT (n.*909+163_*909+164insCTTTTT) c.*569+163_*569+164insCTTTTT (n.*569+163_*569+164insCTTTTT) c.1156+163_1156+164insCTTTTT (n.1156+163_1156+164insCTTTTT) c.*597+163_*597+164insCTTTTT (n.*597+163_*597+164insCTTTTT) n.1527+163_1527+164insCTTTTT n.2840+163_2840+164insCTTTTT n.340+163_340+164insCTTTTT n.2128+163_2128+164insCTTTTT n.1264+163_1264+164insCTTTTT c.1018+163_1018+164insCTTTTT (n.1018+163_1018+164insCTTTTT) c.853+163_853+164insCTTTTT (n.853+163_853+164insCTTTTT) c.1221+163_1221+164insCTTTTT (n.1221+163_1221+164insCTTTTT) c.1209+163_1209+164insCTTTTT (n.1209+163_1209+164insCTTTTT) n.494+163_494+164insCTTTTT c.956-5021_956-5020insCTTTTT (n.956-5021_956-5020insCTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212102T>C | CA2595750854 | PSEN1 | c.1117+160T>C (n.1117+160T>C) c.1129+160T>C (n.1129+160T>C) n.1879+160T>C c.*84+160T>C (n.*84+160T>C) n.1555+160T>C c.1009+160T>C (n.1009+160T>C) c.*1073+160T>C (n.*1073+160T>C) n.6679+160T>C c.*1341+160T>C (n.*1341+160T>C) c.944-5024T>C (n.944-5024T>C) c.1172+117T>C (n.1172+117T>C) c.*791+160T>C (n.*791+160T>C) c.*687+160T>C (n.*687+160T>C) c.1030+160T>C (n.1030+160T>C) c.*1218+160T>C (n.*1218+160T>C) c.880+160T>C (n.880+160T>C) c.*1068+160T>C (n.*1068+160T>C) c.*909+160T>C (n.*909+160T>C) c.*569+160T>C (n.*569+160T>C) c.1156+160T>C (n.1156+160T>C) c.*597+160T>C (n.*597+160T>C) n.1527+160T>C n.2840+160T>C n.340+160T>C n.2128+160T>C n.1264+160T>C c.1018+160T>C (n.1018+160T>C) c.853+160T>C (n.853+160T>C) c.1221+160T>C (n.1221+160T>C) c.1209+160T>C (n.1209+160T>C) n.494+160T>C c.956-5024T>C (n.956-5024T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212102T>G | CA2146495571 | PSEN1 | c.1117+160T>G (n.1117+160T>G) c.1129+160T>G (n.1129+160T>G) n.1879+160T>G c.*84+160T>G (n.*84+160T>G) n.1555+160T>G c.1009+160T>G (n.1009+160T>G) c.*1073+160T>G (n.*1073+160T>G) n.6679+160T>G c.*1341+160T>G (n.*1341+160T>G) c.944-5024T>G (n.944-5024T>G) c.1172+117T>G (n.1172+117T>G) c.*791+160T>G (n.*791+160T>G) c.*687+160T>G (n.*687+160T>G) c.1030+160T>G (n.1030+160T>G) c.*1218+160T>G (n.*1218+160T>G) c.880+160T>G (n.880+160T>G) c.*1068+160T>G (n.*1068+160T>G) c.*909+160T>G (n.*909+160T>G) c.*569+160T>G (n.*569+160T>G) c.1156+160T>G (n.1156+160T>G) c.*597+160T>G (n.*597+160T>G) n.1527+160T>G n.2840+160T>G n.340+160T>G n.2128+160T>G n.1264+160T>G c.1018+160T>G (n.1018+160T>G) c.853+160T>G (n.853+160T>G) c.1221+160T>G (n.1221+160T>G) c.1209+160T>G (n.1209+160T>G) n.494+160T>G c.956-5024T>G (n.956-5024T>G) | dbSNP |
14 | g.73212102T= | CA2146495570 | PSEN1 | c.1117+160T= (n.1117+160T=) c.1129+160T= (n.1129+160T=) n.1879+160T= c.*84+160T= (n.*84+160T=) n.1555+160T= c.1009+160T= (n.1009+160T=) c.*1073+160T= (n.*1073+160T=) n.6679+160T= c.*1341+160T= (n.*1341+160T=) c.944-5024T= (n.944-5024T=) c.1172+117T= (n.1172+117T=) c.*791+160T= (n.*791+160T=) c.*687+160T= (n.*687+160T=) c.1030+160T= (n.1030+160T=) c.*1218+160T= (n.*1218+160T=) c.880+160T= (n.880+160T=) c.*1068+160T= (n.*1068+160T=) c.*909+160T= (n.*909+160T=) c.*569+160T= (n.*569+160T=) c.1156+160T= (n.1156+160T=) c.*597+160T= (n.*597+160T=) n.1527+160T= n.2840+160T= n.340+160T= n.2128+160T= n.1264+160T= c.1018+160T= (n.1018+160T=) c.853+160T= (n.853+160T=) c.1221+160T= (n.1221+160T=) c.1209+160T= (n.1209+160T=) n.494+160T= c.956-5024T= (n.956-5024T=) | |
14 | g.73212105_73212106insCTTTT | CA964614998 | PSEN1 | c.1117+163_1117+164insCTTTT (n.1117+163_1117+164insCTTTT) c.1129+163_1129+164insCTTTT (n.1129+163_1129+164insCTTTT) n.1879+163_1879+164insCTTTT c.*84+163_*84+164insCTTTT (n.*84+163_*84+164insCTTTT) n.1555+163_1555+164insCTTTT c.1009+163_1009+164insCTTTT (n.1009+163_1009+164insCTTTT) c.*1073+163_*1073+164insCTTTT (n.*1073+163_*1073+164insCTTTT) n.6679+163_6679+164insCTTTT c.*1341+163_*1341+164insCTTTT (n.*1341+163_*1341+164insCTTTT) c.944-5021_944-5020insCTTTT (n.944-5021_944-5020insCTTTT) c.1172+120_1172+121insCTTTT (n.1172+120_1172+121insCTTTT) c.*791+163_*791+164insCTTTT (n.*791+163_*791+164insCTTTT) c.*687+163_*687+164insCTTTT (n.*687+163_*687+164insCTTTT) c.1030+163_1030+164insCTTTT (n.1030+163_1030+164insCTTTT) c.*1218+163_*1218+164insCTTTT (n.*1218+163_*1218+164insCTTTT) c.880+163_880+164insCTTTT (n.880+163_880+164insCTTTT) c.*1068+163_*1068+164insCTTTT (n.*1068+163_*1068+164insCTTTT) c.*909+163_*909+164insCTTTT (n.*909+163_*909+164insCTTTT) c.*569+163_*569+164insCTTTT (n.*569+163_*569+164insCTTTT) c.1156+163_1156+164insCTTTT (n.1156+163_1156+164insCTTTT) c.*597+163_*597+164insCTTTT (n.*597+163_*597+164insCTTTT) n.1527+163_1527+164insCTTTT n.2840+163_2840+164insCTTTT n.340+163_340+164insCTTTT n.2128+163_2128+164insCTTTT n.1264+163_1264+164insCTTTT c.1018+163_1018+164insCTTTT (n.1018+163_1018+164insCTTTT) c.853+163_853+164insCTTTT (n.853+163_853+164insCTTTT) c.1221+163_1221+164insCTTTT (n.1221+163_1221+164insCTTTT) c.1209+163_1209+164insCTTTT (n.1209+163_1209+164insCTTTT) n.494+163_494+164insCTTTT c.956-5021_956-5020insCTTTT (n.956-5021_956-5020insCTTTT) | gnomAD v3 gnomAD v4 |
14 | g.73212103T>A | CA2565913521 | PSEN1 | c.1117+161T>A (n.1117+161T>A) c.1129+161T>A (n.1129+161T>A) n.1879+161T>A c.*84+161T>A (n.*84+161T>A) n.1555+161T>A c.1009+161T>A (n.1009+161T>A) c.*1073+161T>A (n.*1073+161T>A) n.6679+161T>A c.*1341+161T>A (n.*1341+161T>A) c.944-5023T>A (n.944-5023T>A) c.1172+118T>A (n.1172+118T>A) c.*791+161T>A (n.*791+161T>A) c.*687+161T>A (n.*687+161T>A) c.1030+161T>A (n.1030+161T>A) c.*1218+161T>A (n.*1218+161T>A) c.880+161T>A (n.880+161T>A) c.*1068+161T>A (n.*1068+161T>A) c.*909+161T>A (n.*909+161T>A) c.*569+161T>A (n.*569+161T>A) c.1156+161T>A (n.1156+161T>A) c.*597+161T>A (n.*597+161T>A) n.1527+161T>A n.2840+161T>A n.340+161T>A n.2128+161T>A n.1264+161T>A c.1018+161T>A (n.1018+161T>A) c.853+161T>A (n.853+161T>A) c.1221+161T>A (n.1221+161T>A) c.1209+161T>A (n.1209+161T>A) n.494+161T>A c.956-5023T>A (n.956-5023T>A) | |
14 | g.73212103T>C | CA964614999 | PSEN1 | c.1117+161T>C (n.1117+161T>C) c.1129+161T>C (n.1129+161T>C) n.1879+161T>C c.*84+161T>C (n.*84+161T>C) n.1555+161T>C c.1009+161T>C (n.1009+161T>C) c.*1073+161T>C (n.*1073+161T>C) n.6679+161T>C c.*1341+161T>C (n.*1341+161T>C) c.944-5023T>C (n.944-5023T>C) c.1172+118T>C (n.1172+118T>C) c.*791+161T>C (n.*791+161T>C) c.*687+161T>C (n.*687+161T>C) c.1030+161T>C (n.1030+161T>C) c.*1218+161T>C (n.*1218+161T>C) c.880+161T>C (n.880+161T>C) c.*1068+161T>C (n.*1068+161T>C) c.*909+161T>C (n.*909+161T>C) c.*569+161T>C (n.*569+161T>C) c.1156+161T>C (n.1156+161T>C) c.*597+161T>C (n.*597+161T>C) n.1527+161T>C n.2840+161T>C n.340+161T>C n.2128+161T>C n.1264+161T>C c.1018+161T>C (n.1018+161T>C) c.853+161T>C (n.853+161T>C) c.1221+161T>C (n.1221+161T>C) c.1209+161T>C (n.1209+161T>C) n.494+161T>C c.956-5023T>C (n.956-5023T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212103_73212130delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA2146495572 | PSEN1 | c.1117+161_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1117+161_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1129+161_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1129+161_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1879+161_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG c.*84+161_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*84+161_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1555+161_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG c.1009+161_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1009+161_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+161_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+161_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.6679+161_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG c.*1341+161_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+161_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.944-5023_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.944-5023_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1172+118_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1172+118_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*791+161_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*791+161_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*687+161_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*687+161_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1030+161_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1030+161_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+161_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+161_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.880+161_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.880+161_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+161_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+161_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*909+161_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*909+161_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*569+161_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*569+161_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1156+161_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1156+161_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*597+161_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*597+161_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1527+161_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG n.2840+161_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG n.340+161_340+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG n.2128+161_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG n.1264+161_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG c.1018+161_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1018+161_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.853+161_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.853+161_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1221+161_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1221+161_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1209+161_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1209+161_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.494+161_494+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG c.956-5023_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.956-5023_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212104T>A | CA2535192943 | PSEN1 | c.1117+162T>A (n.1117+162T>A) c.1129+162T>A (n.1129+162T>A) n.1879+162T>A c.*84+162T>A (n.*84+162T>A) n.1555+162T>A c.1009+162T>A (n.1009+162T>A) c.*1073+162T>A (n.*1073+162T>A) n.6679+162T>A c.*1341+162T>A (n.*1341+162T>A) c.944-5022T>A (n.944-5022T>A) c.1172+119T>A (n.1172+119T>A) c.*791+162T>A (n.*791+162T>A) c.*687+162T>A (n.*687+162T>A) c.1030+162T>A (n.1030+162T>A) c.*1218+162T>A (n.*1218+162T>A) c.880+162T>A (n.880+162T>A) c.*1068+162T>A (n.*1068+162T>A) c.*909+162T>A (n.*909+162T>A) c.*569+162T>A (n.*569+162T>A) c.1156+162T>A (n.1156+162T>A) c.*597+162T>A (n.*597+162T>A) n.1527+162T>A n.2840+162T>A n.340+162T>A n.2128+162T>A n.1264+162T>A c.1018+162T>A (n.1018+162T>A) c.853+162T>A (n.853+162T>A) c.1221+162T>A (n.1221+162T>A) c.1209+162T>A (n.1209+162T>A) n.494+162T>A c.956-5022T>A (n.956-5022T>A) | |
14 | g.73212104T>C | CA964615000 | PSEN1 | c.1117+162T>C (n.1117+162T>C) c.1129+162T>C (n.1129+162T>C) n.1879+162T>C c.*84+162T>C (n.*84+162T>C) n.1555+162T>C c.1009+162T>C (n.1009+162T>C) c.*1073+162T>C (n.*1073+162T>C) n.6679+162T>C c.*1341+162T>C (n.*1341+162T>C) c.944-5022T>C (n.944-5022T>C) c.1172+119T>C (n.1172+119T>C) c.*791+162T>C (n.*791+162T>C) c.*687+162T>C (n.*687+162T>C) c.1030+162T>C (n.1030+162T>C) c.*1218+162T>C (n.*1218+162T>C) c.880+162T>C (n.880+162T>C) c.*1068+162T>C (n.*1068+162T>C) c.*909+162T>C (n.*909+162T>C) c.*569+162T>C (n.*569+162T>C) c.1156+162T>C (n.1156+162T>C) c.*597+162T>C (n.*597+162T>C) n.1527+162T>C n.2840+162T>C n.340+162T>C n.2128+162T>C n.1264+162T>C c.1018+162T>C (n.1018+162T>C) c.853+162T>C (n.853+162T>C) c.1221+162T>C (n.1221+162T>C) c.1209+162T>C (n.1209+162T>C) n.494+162T>C c.956-5022T>C (n.956-5022T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212104_73212130del | CA2146495573 | PSEN1 | c.1117+162_1117+188del (n.1117+162_1117+188del) c.1129+162_1129+188del (n.1129+162_1129+188del) n.1879+162_1879+188del c.*84+162_*84+188del (n.*84+162_*84+188del) n.1555+162_1555+188del c.1009+162_1009+188del (n.1009+162_1009+188del) c.*1073+162_*1073+188del (n.*1073+162_*1073+188del) n.6679+162_6679+188del c.*1341+162_*1341+188del (n.*1341+162_*1341+188del) c.944-5022_944-4996del (n.944-5022_944-4996del) c.1172+119_1172+145del (n.1172+119_1172+145del) c.*791+162_*791+188del (n.*791+162_*791+188del) c.*687+162_*687+188del (n.*687+162_*687+188del) c.1030+162_1030+188del (n.1030+162_1030+188del) c.*1218+162_*1218+188del (n.*1218+162_*1218+188del) c.880+162_880+188del (n.880+162_880+188del) c.*1068+162_*1068+188del (n.*1068+162_*1068+188del) c.*909+162_*909+188del (n.*909+162_*909+188del) c.*569+162_*569+188del (n.*569+162_*569+188del) c.1156+162_1156+188del (n.1156+162_1156+188del) c.*597+162_*597+188del (n.*597+162_*597+188del) n.1527+162_1527+188del n.2840+162_2840+188del n.340+162_340+188del n.2128+162_2128+188del n.1264+162_1264+188del c.1018+162_1018+188del (n.1018+162_1018+188del) c.853+162_853+188del (n.853+162_853+188del) c.1221+162_1221+188del (n.1221+162_1221+188del) c.1209+162_1209+188del (n.1209+162_1209+188del) n.494+162_494+188del c.956-5022_956-4996del (n.956-5022_956-4996del) | dbSNP |
14 | g.73212104_73212130delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA2146495574 | PSEN1 | c.1117+162_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1117+162_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1129+162_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1129+162_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1879+162_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG c.*84+162_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*84+162_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1555+162_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG c.1009+162_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1009+162_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+162_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+162_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.6679+162_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG c.*1341+162_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+162_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.944-5022_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.944-5022_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1172+119_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1172+119_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*791+162_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*791+162_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*687+162_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*687+162_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1030+162_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1030+162_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+162_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+162_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.880+162_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.880+162_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+162_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+162_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*909+162_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*909+162_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*569+162_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*569+162_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1156+162_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1156+162_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*597+162_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*597+162_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1527+162_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG n.2840+162_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG n.340+162_340+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG n.2128+162_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG n.1264+162_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG c.1018+162_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1018+162_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.853+162_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.853+162_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1221+162_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1221+162_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1209+162_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1209+162_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) n.494+162_494+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG c.956-5022_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.956-5022_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212105T>A | CA2509885163 | PSEN1 | c.1117+163T>A (n.1117+163T>A) c.1129+163T>A (n.1129+163T>A) n.1879+163T>A c.*84+163T>A (n.*84+163T>A) n.1555+163T>A c.1009+163T>A (n.1009+163T>A) c.*1073+163T>A (n.*1073+163T>A) n.6679+163T>A c.*1341+163T>A (n.*1341+163T>A) c.944-5021T>A (n.944-5021T>A) c.1172+120T>A (n.1172+120T>A) c.*791+163T>A (n.*791+163T>A) c.*687+163T>A (n.*687+163T>A) c.1030+163T>A (n.1030+163T>A) c.*1218+163T>A (n.*1218+163T>A) c.880+163T>A (n.880+163T>A) c.*1068+163T>A (n.*1068+163T>A) c.*909+163T>A (n.*909+163T>A) c.*569+163T>A (n.*569+163T>A) c.1156+163T>A (n.1156+163T>A) c.*597+163T>A (n.*597+163T>A) n.1527+163T>A n.2840+163T>A n.340+163T>A n.2128+163T>A n.1264+163T>A c.1018+163T>A (n.1018+163T>A) c.853+163T>A (n.853+163T>A) c.1221+163T>A (n.1221+163T>A) c.1209+163T>A (n.1209+163T>A) n.494+163T>A c.956-5021T>A (n.956-5021T>A) | |
14 | g.73212105T>C | CA2146495575 | PSEN1 | c.1117+163T>C (n.1117+163T>C) c.1129+163T>C (n.1129+163T>C) n.1879+163T>C c.*84+163T>C (n.*84+163T>C) n.1555+163T>C c.1009+163T>C (n.1009+163T>C) c.*1073+163T>C (n.*1073+163T>C) n.6679+163T>C c.*1341+163T>C (n.*1341+163T>C) c.944-5021T>C (n.944-5021T>C) c.1172+120T>C (n.1172+120T>C) c.*791+163T>C (n.*791+163T>C) c.*687+163T>C (n.*687+163T>C) c.1030+163T>C (n.1030+163T>C) c.*1218+163T>C (n.*1218+163T>C) c.880+163T>C (n.880+163T>C) c.*1068+163T>C (n.*1068+163T>C) c.*909+163T>C (n.*909+163T>C) c.*569+163T>C (n.*569+163T>C) c.1156+163T>C (n.1156+163T>C) c.*597+163T>C (n.*597+163T>C) n.1527+163T>C n.2840+163T>C n.340+163T>C n.2128+163T>C n.1264+163T>C c.1018+163T>C (n.1018+163T>C) c.853+163T>C (n.853+163T>C) c.1221+163T>C (n.1221+163T>C) c.1209+163T>C (n.1209+163T>C) n.494+163T>C c.956-5021T>C (n.956-5021T>C) | dbSNP |
14 | g.73212105T= | CA2146495576 | PSEN1 | c.1117+163T= (n.1117+163T=) c.1129+163T= (n.1129+163T=) n.1879+163T= c.*84+163T= (n.*84+163T=) n.1555+163T= c.1009+163T= (n.1009+163T=) c.*1073+163T= (n.*1073+163T=) n.6679+163T= c.*1341+163T= (n.*1341+163T=) c.944-5021T= (n.944-5021T=) c.1172+120T= (n.1172+120T=) c.*791+163T= (n.*791+163T=) c.*687+163T= (n.*687+163T=) c.1030+163T= (n.1030+163T=) c.*1218+163T= (n.*1218+163T=) c.880+163T= (n.880+163T=) c.*1068+163T= (n.*1068+163T=) c.*909+163T= (n.*909+163T=) c.*569+163T= (n.*569+163T=) c.1156+163T= (n.1156+163T=) c.*597+163T= (n.*597+163T=) n.1527+163T= n.2840+163T= n.340+163T= n.2128+163T= n.1264+163T= c.1018+163T= (n.1018+163T=) c.853+163T= (n.853+163T=) c.1221+163T= (n.1221+163T=) c.1209+163T= (n.1209+163T=) n.494+163T= c.956-5021T= (n.956-5021T=) | |
14 | g.73212105_73212130del | CA615000762 | PSEN1 | c.1117+163_1117+188del (n.1117+163_1117+188del) c.1129+163_1129+188del (n.1129+163_1129+188del) n.1879+163_1879+188del c.*84+163_*84+188del (n.*84+163_*84+188del) n.1555+163_1555+188del c.1009+163_1009+188del (n.1009+163_1009+188del) c.*1073+163_*1073+188del (n.*1073+163_*1073+188del) n.6679+163_6679+188del c.*1341+163_*1341+188del (n.*1341+163_*1341+188del) c.944-5021_944-4996del (n.944-5021_944-4996del) c.1172+120_1172+145del (n.1172+120_1172+145del) c.*791+163_*791+188del (n.*791+163_*791+188del) c.*687+163_*687+188del (n.*687+163_*687+188del) c.1030+163_1030+188del (n.1030+163_1030+188del) c.*1218+163_*1218+188del (n.*1218+163_*1218+188del) c.880+163_880+188del (n.880+163_880+188del) c.*1068+163_*1068+188del (n.*1068+163_*1068+188del) c.*909+163_*909+188del (n.*909+163_*909+188del) c.*569+163_*569+188del (n.*569+163_*569+188del) c.1156+163_1156+188del (n.1156+163_1156+188del) c.*597+163_*597+188del (n.*597+163_*597+188del) n.1527+163_1527+188del n.2840+163_2840+188del n.340+163_340+188del n.2128+163_2128+188del n.1264+163_1264+188del c.1018+163_1018+188del (n.1018+163_1018+188del) c.853+163_853+188del (n.853+163_853+188del) c.1221+163_1221+188del (n.1221+163_1221+188del) c.1209+163_1209+188del (n.1209+163_1209+188del) n.494+163_494+188del c.956-5021_956-4996del (n.956-5021_956-4996del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212105_73212130delinsTTTTTTTTTTTTTTTTTTTTTTTTTG | CA2146495577 | PSEN1 | c.1117+163_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1117+163_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1129+163_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1129+163_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1879+163_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG c.*84+163_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*84+163_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1555+163_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG c.1009+163_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1009+163_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+163_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+163_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) n.6679+163_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG c.*1341+163_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+163_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.944-5021_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.944-5021_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1172+120_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1172+120_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*791+163_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*791+163_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*687+163_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*687+163_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1030+163_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1030+163_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+163_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+163_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.880+163_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.880+163_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+163_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+163_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*909+163_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*909+163_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*569+163_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*569+163_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1156+163_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1156+163_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.*597+163_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*597+163_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) n.1527+163_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG n.2840+163_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG n.340+163_340+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG n.2128+163_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG n.1264+163_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG c.1018+163_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1018+163_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.853+163_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.853+163_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1221+163_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1221+163_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) c.1209+163_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.1209+163_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) n.494+163_494+188delinsTTTTTTTTTTTTTTTTTTTTTTTTTG c.956-5021_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTG (n.956-5021_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212106T>C | CA615000767 | PSEN1 | c.1117+164T>C (n.1117+164T>C) c.1129+164T>C (n.1129+164T>C) n.1879+164T>C c.*84+164T>C (n.*84+164T>C) n.1555+164T>C c.1009+164T>C (n.1009+164T>C) c.*1073+164T>C (n.*1073+164T>C) n.6679+164T>C c.*1341+164T>C (n.*1341+164T>C) c.944-5020T>C (n.944-5020T>C) c.1172+121T>C (n.1172+121T>C) c.*791+164T>C (n.*791+164T>C) c.*687+164T>C (n.*687+164T>C) c.1030+164T>C (n.1030+164T>C) c.*1218+164T>C (n.*1218+164T>C) c.880+164T>C (n.880+164T>C) c.*1068+164T>C (n.*1068+164T>C) c.*909+164T>C (n.*909+164T>C) c.*569+164T>C (n.*569+164T>C) c.1156+164T>C (n.1156+164T>C) c.*597+164T>C (n.*597+164T>C) n.1527+164T>C n.2840+164T>C n.340+164T>C n.2128+164T>C n.1264+164T>C c.1018+164T>C (n.1018+164T>C) c.853+164T>C (n.853+164T>C) c.1221+164T>C (n.1221+164T>C) c.1209+164T>C (n.1209+164T>C) n.494+164T>C c.956-5020T>C (n.956-5020T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212106T= | CA2146495578 | PSEN1 | c.1117+164T= (n.1117+164T=) c.1129+164T= (n.1129+164T=) n.1879+164T= c.*84+164T= (n.*84+164T=) n.1555+164T= c.1009+164T= (n.1009+164T=) c.*1073+164T= (n.*1073+164T=) n.6679+164T= c.*1341+164T= (n.*1341+164T=) c.944-5020T= (n.944-5020T=) c.1172+121T= (n.1172+121T=) c.*791+164T= (n.*791+164T=) c.*687+164T= (n.*687+164T=) c.1030+164T= (n.1030+164T=) c.*1218+164T= (n.*1218+164T=) c.880+164T= (n.880+164T=) c.*1068+164T= (n.*1068+164T=) c.*909+164T= (n.*909+164T=) c.*569+164T= (n.*569+164T=) c.1156+164T= (n.1156+164T=) c.*597+164T= (n.*597+164T=) n.1527+164T= n.2840+164T= n.340+164T= n.2128+164T= n.1264+164T= c.1018+164T= (n.1018+164T=) c.853+164T= (n.853+164T=) c.1221+164T= (n.1221+164T=) c.1209+164T= (n.1209+164T=) n.494+164T= c.956-5020T= (n.956-5020T=) | |
14 | g.73212106_73212130del | CA708388951 | PSEN1 | c.1117+164_1117+188del (n.1117+164_1117+188del) c.1129+164_1129+188del (n.1129+164_1129+188del) n.1879+164_1879+188del c.*84+164_*84+188del (n.*84+164_*84+188del) n.1555+164_1555+188del c.1009+164_1009+188del (n.1009+164_1009+188del) c.*1073+164_*1073+188del (n.*1073+164_*1073+188del) n.6679+164_6679+188del c.*1341+164_*1341+188del (n.*1341+164_*1341+188del) c.944-5020_944-4996del (n.944-5020_944-4996del) c.1172+121_1172+145del (n.1172+121_1172+145del) c.*791+164_*791+188del (n.*791+164_*791+188del) c.*687+164_*687+188del (n.*687+164_*687+188del) c.1030+164_1030+188del (n.1030+164_1030+188del) c.*1218+164_*1218+188del (n.*1218+164_*1218+188del) c.880+164_880+188del (n.880+164_880+188del) c.*1068+164_*1068+188del (n.*1068+164_*1068+188del) c.*909+164_*909+188del (n.*909+164_*909+188del) c.*569+164_*569+188del (n.*569+164_*569+188del) c.1156+164_1156+188del (n.1156+164_1156+188del) c.*597+164_*597+188del (n.*597+164_*597+188del) n.1527+164_1527+188del n.2840+164_2840+188del n.340+164_340+188del n.2128+164_2128+188del n.1264+164_1264+188del c.1018+164_1018+188del (n.1018+164_1018+188del) c.853+164_853+188del (n.853+164_853+188del) c.1221+164_1221+188del (n.1221+164_1221+188del) c.1209+164_1209+188del (n.1209+164_1209+188del) n.494+164_494+188del c.956-5020_956-4996del (n.956-5020_956-4996del) | dbSNP |
14 | g.73212106_73212130delinsTTTTTTTTTTTTTTTTTTTTTTTTG | CA2146495579 | PSEN1 | c.1117+164_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1117+164_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1129+164_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1129+164_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) n.1879+164_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG c.*84+164_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*84+164_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) n.1555+164_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG c.1009+164_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1009+164_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+164_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+164_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) n.6679+164_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG c.*1341+164_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+164_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.944-5020_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.944-5020_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1172+121_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1172+121_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*791+164_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*791+164_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*687+164_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*687+164_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1030+164_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1030+164_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+164_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+164_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.880+164_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.880+164_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+164_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+164_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*909+164_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*909+164_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*569+164_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*569+164_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1156+164_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1156+164_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.*597+164_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.*597+164_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) n.1527+164_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG n.2840+164_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG n.340+164_340+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG n.2128+164_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG n.1264+164_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG c.1018+164_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1018+164_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.853+164_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.853+164_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1221+164_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1221+164_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) c.1209+164_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.1209+164_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG) n.494+164_494+188delinsTTTTTTTTTTTTTTTTTTTTTTTTG c.956-5020_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTG (n.956-5020_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212107T>C | CA964615004 | PSEN1 | c.1117+165T>C (n.1117+165T>C) c.1129+165T>C (n.1129+165T>C) n.1879+165T>C c.*84+165T>C (n.*84+165T>C) n.1555+165T>C c.1009+165T>C (n.1009+165T>C) c.*1073+165T>C (n.*1073+165T>C) n.6679+165T>C c.*1341+165T>C (n.*1341+165T>C) c.944-5019T>C (n.944-5019T>C) c.1172+122T>C (n.1172+122T>C) c.*791+165T>C (n.*791+165T>C) c.*687+165T>C (n.*687+165T>C) c.1030+165T>C (n.1030+165T>C) c.*1218+165T>C (n.*1218+165T>C) c.880+165T>C (n.880+165T>C) c.*1068+165T>C (n.*1068+165T>C) c.*909+165T>C (n.*909+165T>C) c.*569+165T>C (n.*569+165T>C) c.1156+165T>C (n.1156+165T>C) c.*597+165T>C (n.*597+165T>C) n.1527+165T>C n.2840+165T>C n.340+165T>C n.2128+165T>C n.1264+165T>C c.1018+165T>C (n.1018+165T>C) c.853+165T>C (n.853+165T>C) c.1221+165T>C (n.1221+165T>C) c.1209+165T>C (n.1209+165T>C) n.494+165T>C c.956-5019T>C (n.956-5019T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212107_73212130del | CA2146495580 | PSEN1 | c.1117+165_1117+188del (n.1117+165_1117+188del) c.1129+165_1129+188del (n.1129+165_1129+188del) n.1879+165_1879+188del c.*84+165_*84+188del (n.*84+165_*84+188del) n.1555+165_1555+188del c.1009+165_1009+188del (n.1009+165_1009+188del) c.*1073+165_*1073+188del (n.*1073+165_*1073+188del) n.6679+165_6679+188del c.*1341+165_*1341+188del (n.*1341+165_*1341+188del) c.944-5019_944-4996del (n.944-5019_944-4996del) c.1172+122_1172+145del (n.1172+122_1172+145del) c.*791+165_*791+188del (n.*791+165_*791+188del) c.*687+165_*687+188del (n.*687+165_*687+188del) c.1030+165_1030+188del (n.1030+165_1030+188del) c.*1218+165_*1218+188del (n.*1218+165_*1218+188del) c.880+165_880+188del (n.880+165_880+188del) c.*1068+165_*1068+188del (n.*1068+165_*1068+188del) c.*909+165_*909+188del (n.*909+165_*909+188del) c.*569+165_*569+188del (n.*569+165_*569+188del) c.1156+165_1156+188del (n.1156+165_1156+188del) c.*597+165_*597+188del (n.*597+165_*597+188del) n.1527+165_1527+188del n.2840+165_2840+188del n.340+165_340+188del n.2128+165_2128+188del n.1264+165_1264+188del c.1018+165_1018+188del (n.1018+165_1018+188del) c.853+165_853+188del (n.853+165_853+188del) c.1221+165_1221+188del (n.1221+165_1221+188del) c.1209+165_1209+188del (n.1209+165_1209+188del) n.494+165_494+188del c.956-5019_956-4996del (n.956-5019_956-4996del) | dbSNP |
14 | g.73212107_73212130delinsTTTTTTTTTTTTTTTTTTTTTTTG | CA2146495581 | PSEN1 | c.1117+165_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1117+165_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1129+165_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1129+165_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) n.1879+165_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTTG c.*84+165_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*84+165_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) n.1555+165_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTTG c.1009+165_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1009+165_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+165_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+165_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) n.6679+165_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTTG c.*1341+165_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+165_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.944-5019_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.944-5019_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1172+122_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1172+122_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*791+165_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*791+165_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*687+165_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*687+165_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1030+165_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1030+165_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+165_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+165_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.880+165_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.880+165_880+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+165_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+165_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*909+165_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*909+165_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*569+165_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*569+165_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1156+165_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1156+165_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.*597+165_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.*597+165_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) n.1527+165_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTTG n.2840+165_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTTG n.340+165_340+188delinsTTTTTTTTTTTTTTTTTTTTTTTG n.2128+165_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTTG n.1264+165_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTTG c.1018+165_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1018+165_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.853+165_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.853+165_853+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1221+165_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1221+165_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) c.1209+165_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.1209+165_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTTG) n.494+165_494+188delinsTTTTTTTTTTTTTTTTTTTTTTTG c.956-5019_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTG (n.956-5019_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212108T>A | CA2559284595 | PSEN1 | c.1117+166T>A (n.1117+166T>A) c.1129+166T>A (n.1129+166T>A) n.1879+166T>A c.*84+166T>A (n.*84+166T>A) n.1555+166T>A c.1009+166T>A (n.1009+166T>A) c.*1073+166T>A (n.*1073+166T>A) n.6679+166T>A c.*1341+166T>A (n.*1341+166T>A) c.944-5018T>A (n.944-5018T>A) c.1172+123T>A (n.1172+123T>A) c.*791+166T>A (n.*791+166T>A) c.*687+166T>A (n.*687+166T>A) c.1030+166T>A (n.1030+166T>A) c.*1218+166T>A (n.*1218+166T>A) c.880+166T>A (n.880+166T>A) c.*1068+166T>A (n.*1068+166T>A) c.*909+166T>A (n.*909+166T>A) c.*569+166T>A (n.*569+166T>A) c.1156+166T>A (n.1156+166T>A) c.*597+166T>A (n.*597+166T>A) n.1527+166T>A n.2840+166T>A n.340+166T>A n.2128+166T>A n.1264+166T>A c.1018+166T>A (n.1018+166T>A) c.853+166T>A (n.853+166T>A) c.1221+166T>A (n.1221+166T>A) c.1209+166T>A (n.1209+166T>A) n.494+166T>A c.956-5018T>A (n.956-5018T>A) | |
14 | g.73212108T>C | CA2513529674 | PSEN1 | c.1117+166T>C (n.1117+166T>C) c.1129+166T>C (n.1129+166T>C) n.1879+166T>C c.*84+166T>C (n.*84+166T>C) n.1555+166T>C c.1009+166T>C (n.1009+166T>C) c.*1073+166T>C (n.*1073+166T>C) n.6679+166T>C c.*1341+166T>C (n.*1341+166T>C) c.944-5018T>C (n.944-5018T>C) c.1172+123T>C (n.1172+123T>C) c.*791+166T>C (n.*791+166T>C) c.*687+166T>C (n.*687+166T>C) c.1030+166T>C (n.1030+166T>C) c.*1218+166T>C (n.*1218+166T>C) c.880+166T>C (n.880+166T>C) c.*1068+166T>C (n.*1068+166T>C) c.*909+166T>C (n.*909+166T>C) c.*569+166T>C (n.*569+166T>C) c.1156+166T>C (n.1156+166T>C) c.*597+166T>C (n.*597+166T>C) n.1527+166T>C n.2840+166T>C n.340+166T>C n.2128+166T>C n.1264+166T>C c.1018+166T>C (n.1018+166T>C) c.853+166T>C (n.853+166T>C) c.1221+166T>C (n.1221+166T>C) c.1209+166T>C (n.1209+166T>C) n.494+166T>C c.956-5018T>C (n.956-5018T>C) | |
14 | g.73212108_73212130del | CA615000770 | PSEN1 | c.1117+166_1117+188del (n.1117+166_1117+188del) c.1129+166_1129+188del (n.1129+166_1129+188del) n.1879+166_1879+188del c.*84+166_*84+188del (n.*84+166_*84+188del) n.1555+166_1555+188del c.1009+166_1009+188del (n.1009+166_1009+188del) c.*1073+166_*1073+188del (n.*1073+166_*1073+188del) n.6679+166_6679+188del c.*1341+166_*1341+188del (n.*1341+166_*1341+188del) c.944-5018_944-4996del (n.944-5018_944-4996del) c.1172+123_1172+145del (n.1172+123_1172+145del) c.*791+166_*791+188del (n.*791+166_*791+188del) c.*687+166_*687+188del (n.*687+166_*687+188del) c.1030+166_1030+188del (n.1030+166_1030+188del) c.*1218+166_*1218+188del (n.*1218+166_*1218+188del) c.880+166_880+188del (n.880+166_880+188del) c.*1068+166_*1068+188del (n.*1068+166_*1068+188del) c.*909+166_*909+188del (n.*909+166_*909+188del) c.*569+166_*569+188del (n.*569+166_*569+188del) c.1156+166_1156+188del (n.1156+166_1156+188del) c.*597+166_*597+188del (n.*597+166_*597+188del) n.1527+166_1527+188del n.2840+166_2840+188del n.340+166_340+188del n.2128+166_2128+188del n.1264+166_1264+188del c.1018+166_1018+188del (n.1018+166_1018+188del) c.853+166_853+188del (n.853+166_853+188del) c.1221+166_1221+188del (n.1221+166_1221+188del) c.1209+166_1209+188del (n.1209+166_1209+188del) n.494+166_494+188del c.956-5018_956-4996del (n.956-5018_956-4996del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212108_73212130delinsTTTTTTTTTTTTTTTTTTTTTTG | CA2146495582 | PSEN1 | c.1117+166_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1117+166_1117+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1129+166_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1129+166_1129+188delinsTTTTTTTTTTTTTTTTTTTTTTG) n.1879+166_1879+188delinsTTTTTTTTTTTTTTTTTTTTTTG c.*84+166_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*84+166_*84+188delinsTTTTTTTTTTTTTTTTTTTTTTG) n.1555+166_1555+188delinsTTTTTTTTTTTTTTTTTTTTTTG c.1009+166_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1009+166_1009+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*1073+166_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*1073+166_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTTG) n.6679+166_6679+188delinsTTTTTTTTTTTTTTTTTTTTTTG c.*1341+166_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*1341+166_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.944-5018_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTG (n.944-5018_944-4996delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1172+123_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1172+123_1172+145delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*791+166_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*791+166_*791+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*687+166_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*687+166_*687+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1030+166_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1030+166_1030+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*1218+166_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*1218+166_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.880+166_880+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.880+166_880+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*1068+166_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*1068+166_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*909+166_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*909+166_*909+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*569+166_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*569+166_*569+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1156+166_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1156+166_1156+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.*597+166_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.*597+166_*597+188delinsTTTTTTTTTTTTTTTTTTTTTTG) n.1527+166_1527+188delinsTTTTTTTTTTTTTTTTTTTTTTG n.2840+166_2840+188delinsTTTTTTTTTTTTTTTTTTTTTTG n.340+166_340+188delinsTTTTTTTTTTTTTTTTTTTTTTG n.2128+166_2128+188delinsTTTTTTTTTTTTTTTTTTTTTTG n.1264+166_1264+188delinsTTTTTTTTTTTTTTTTTTTTTTG c.1018+166_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1018+166_1018+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.853+166_853+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.853+166_853+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1221+166_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1221+166_1221+188delinsTTTTTTTTTTTTTTTTTTTTTTG) c.1209+166_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTG (n.1209+166_1209+188delinsTTTTTTTTTTTTTTTTTTTTTTG) n.494+166_494+188delinsTTTTTTTTTTTTTTTTTTTTTTG c.956-5018_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTG (n.956-5018_956-4996delinsTTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212109T>C | CA964615028 | PSEN1 | c.1117+167T>C (n.1117+167T>C) c.1129+167T>C (n.1129+167T>C) n.1879+167T>C c.*84+167T>C (n.*84+167T>C) n.1555+167T>C c.1009+167T>C (n.1009+167T>C) c.*1073+167T>C (n.*1073+167T>C) n.6679+167T>C c.*1341+167T>C (n.*1341+167T>C) c.944-5017T>C (n.944-5017T>C) c.1172+124T>C (n.1172+124T>C) c.*791+167T>C (n.*791+167T>C) c.*687+167T>C (n.*687+167T>C) c.1030+167T>C (n.1030+167T>C) c.*1218+167T>C (n.*1218+167T>C) c.880+167T>C (n.880+167T>C) c.*1068+167T>C (n.*1068+167T>C) c.*909+167T>C (n.*909+167T>C) c.*569+167T>C (n.*569+167T>C) c.1156+167T>C (n.1156+167T>C) c.*597+167T>C (n.*597+167T>C) n.1527+167T>C n.2840+167T>C n.340+167T>C n.2128+167T>C n.1264+167T>C c.1018+167T>C (n.1018+167T>C) c.853+167T>C (n.853+167T>C) c.1221+167T>C (n.1221+167T>C) c.1209+167T>C (n.1209+167T>C) n.494+167T>C c.956-5017T>C (n.956-5017T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212109T= | CA2146495583 | PSEN1 | c.1117+167T= (n.1117+167T=) c.1129+167T= (n.1129+167T=) n.1879+167T= c.*84+167T= (n.*84+167T=) n.1555+167T= c.1009+167T= (n.1009+167T=) c.*1073+167T= (n.*1073+167T=) n.6679+167T= c.*1341+167T= (n.*1341+167T=) c.944-5017T= (n.944-5017T=) c.1172+124T= (n.1172+124T=) c.*791+167T= (n.*791+167T=) c.*687+167T= (n.*687+167T=) c.1030+167T= (n.1030+167T=) c.*1218+167T= (n.*1218+167T=) c.880+167T= (n.880+167T=) c.*1068+167T= (n.*1068+167T=) c.*909+167T= (n.*909+167T=) c.*569+167T= (n.*569+167T=) c.1156+167T= (n.1156+167T=) c.*597+167T= (n.*597+167T=) n.1527+167T= n.2840+167T= n.340+167T= n.2128+167T= n.1264+167T= c.1018+167T= (n.1018+167T=) c.853+167T= (n.853+167T=) c.1221+167T= (n.1221+167T=) c.1209+167T= (n.1209+167T=) n.494+167T= c.956-5017T= (n.956-5017T=) | |
14 | g.73212109_73212130del | CA708388954 | PSEN1 | c.1117+167_1117+188del (n.1117+167_1117+188del) c.1129+167_1129+188del (n.1129+167_1129+188del) n.1879+167_1879+188del c.*84+167_*84+188del (n.*84+167_*84+188del) n.1555+167_1555+188del c.1009+167_1009+188del (n.1009+167_1009+188del) c.*1073+167_*1073+188del (n.*1073+167_*1073+188del) n.6679+167_6679+188del c.*1341+167_*1341+188del (n.*1341+167_*1341+188del) c.944-5017_944-4996del (n.944-5017_944-4996del) c.1172+124_1172+145del (n.1172+124_1172+145del) c.*791+167_*791+188del (n.*791+167_*791+188del) c.*687+167_*687+188del (n.*687+167_*687+188del) c.1030+167_1030+188del (n.1030+167_1030+188del) c.*1218+167_*1218+188del (n.*1218+167_*1218+188del) c.880+167_880+188del (n.880+167_880+188del) c.*1068+167_*1068+188del (n.*1068+167_*1068+188del) c.*909+167_*909+188del (n.*909+167_*909+188del) c.*569+167_*569+188del (n.*569+167_*569+188del) c.1156+167_1156+188del (n.1156+167_1156+188del) c.*597+167_*597+188del (n.*597+167_*597+188del) n.1527+167_1527+188del n.2840+167_2840+188del n.340+167_340+188del n.2128+167_2128+188del n.1264+167_1264+188del c.1018+167_1018+188del (n.1018+167_1018+188del) c.853+167_853+188del (n.853+167_853+188del) c.1221+167_1221+188del (n.1221+167_1221+188del) c.1209+167_1209+188del (n.1209+167_1209+188del) n.494+167_494+188del c.956-5017_956-4996del (n.956-5017_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212109_73212130delinsTTTTTTTTTTTTTTTTTTTTTG | CA2146495584 | PSEN1 | c.1117+167_1117+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1117+167_1117+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.1129+167_1129+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1129+167_1129+188delinsTTTTTTTTTTTTTTTTTTTTTG) n.1879+167_1879+188delinsTTTTTTTTTTTTTTTTTTTTTG c.*84+167_*84+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*84+167_*84+188delinsTTTTTTTTTTTTTTTTTTTTTG) n.1555+167_1555+188delinsTTTTTTTTTTTTTTTTTTTTTG c.1009+167_1009+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1009+167_1009+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*1073+167_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*1073+167_*1073+188delinsTTTTTTTTTTTTTTTTTTTTTG) n.6679+167_6679+188delinsTTTTTTTTTTTTTTTTTTTTTG c.*1341+167_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*1341+167_*1341+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.944-5017_944-4996delinsTTTTTTTTTTTTTTTTTTTTTG (n.944-5017_944-4996delinsTTTTTTTTTTTTTTTTTTTTTG) c.1172+124_1172+145delinsTTTTTTTTTTTTTTTTTTTTTG (n.1172+124_1172+145delinsTTTTTTTTTTTTTTTTTTTTTG) c.*791+167_*791+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*791+167_*791+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*687+167_*687+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*687+167_*687+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.1030+167_1030+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1030+167_1030+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*1218+167_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*1218+167_*1218+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.880+167_880+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.880+167_880+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*1068+167_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*1068+167_*1068+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*909+167_*909+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*909+167_*909+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*569+167_*569+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*569+167_*569+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.1156+167_1156+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1156+167_1156+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.*597+167_*597+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.*597+167_*597+188delinsTTTTTTTTTTTTTTTTTTTTTG) n.1527+167_1527+188delinsTTTTTTTTTTTTTTTTTTTTTG n.2840+167_2840+188delinsTTTTTTTTTTTTTTTTTTTTTG n.340+167_340+188delinsTTTTTTTTTTTTTTTTTTTTTG n.2128+167_2128+188delinsTTTTTTTTTTTTTTTTTTTTTG n.1264+167_1264+188delinsTTTTTTTTTTTTTTTTTTTTTG c.1018+167_1018+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1018+167_1018+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.853+167_853+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.853+167_853+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.1221+167_1221+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1221+167_1221+188delinsTTTTTTTTTTTTTTTTTTTTTG) c.1209+167_1209+188delinsTTTTTTTTTTTTTTTTTTTTTG (n.1209+167_1209+188delinsTTTTTTTTTTTTTTTTTTTTTG) n.494+167_494+188delinsTTTTTTTTTTTTTTTTTTTTTG c.956-5017_956-4996delinsTTTTTTTTTTTTTTTTTTTTTG (n.956-5017_956-4996delinsTTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212110_73212130del | CA964615032 | PSEN1 | c.1117+168_1117+188del (n.1117+168_1117+188del) c.1129+168_1129+188del (n.1129+168_1129+188del) n.1879+168_1879+188del c.*84+168_*84+188del (n.*84+168_*84+188del) n.1555+168_1555+188del c.1009+168_1009+188del (n.1009+168_1009+188del) c.*1073+168_*1073+188del (n.*1073+168_*1073+188del) n.6679+168_6679+188del c.*1341+168_*1341+188del (n.*1341+168_*1341+188del) c.944-5016_944-4996del (n.944-5016_944-4996del) c.1172+125_1172+145del (n.1172+125_1172+145del) c.*791+168_*791+188del (n.*791+168_*791+188del) c.*687+168_*687+188del (n.*687+168_*687+188del) c.1030+168_1030+188del (n.1030+168_1030+188del) c.*1218+168_*1218+188del (n.*1218+168_*1218+188del) c.880+168_880+188del (n.880+168_880+188del) c.*1068+168_*1068+188del (n.*1068+168_*1068+188del) c.*909+168_*909+188del (n.*909+168_*909+188del) c.*569+168_*569+188del (n.*569+168_*569+188del) c.1156+168_1156+188del (n.1156+168_1156+188del) c.*597+168_*597+188del (n.*597+168_*597+188del) n.1527+168_1527+188del n.2840+168_2840+188del n.340+168_340+188del n.2128+168_2128+188del n.1264+168_1264+188del c.1018+168_1018+188del (n.1018+168_1018+188del) c.853+168_853+188del (n.853+168_853+188del) c.1221+168_1221+188del (n.1221+168_1221+188del) c.1209+168_1209+188del (n.1209+168_1209+188del) n.494+168_494+188del c.956-5016_956-4996del (n.956-5016_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212110_73212130delinsTTTTTTTTTTTTTTTTTTTTG | CA2146495585 | PSEN1 | c.1117+168_1117+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1117+168_1117+188delinsTTTTTTTTTTTTTTTTTTTTG) c.1129+168_1129+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1129+168_1129+188delinsTTTTTTTTTTTTTTTTTTTTG) n.1879+168_1879+188delinsTTTTTTTTTTTTTTTTTTTTG c.*84+168_*84+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*84+168_*84+188delinsTTTTTTTTTTTTTTTTTTTTG) n.1555+168_1555+188delinsTTTTTTTTTTTTTTTTTTTTG c.1009+168_1009+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1009+168_1009+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*1073+168_*1073+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*1073+168_*1073+188delinsTTTTTTTTTTTTTTTTTTTTG) n.6679+168_6679+188delinsTTTTTTTTTTTTTTTTTTTTG c.*1341+168_*1341+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*1341+168_*1341+188delinsTTTTTTTTTTTTTTTTTTTTG) c.944-5016_944-4996delinsTTTTTTTTTTTTTTTTTTTTG (n.944-5016_944-4996delinsTTTTTTTTTTTTTTTTTTTTG) c.1172+125_1172+145delinsTTTTTTTTTTTTTTTTTTTTG (n.1172+125_1172+145delinsTTTTTTTTTTTTTTTTTTTTG) c.*791+168_*791+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*791+168_*791+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*687+168_*687+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*687+168_*687+188delinsTTTTTTTTTTTTTTTTTTTTG) c.1030+168_1030+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1030+168_1030+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*1218+168_*1218+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*1218+168_*1218+188delinsTTTTTTTTTTTTTTTTTTTTG) c.880+168_880+188delinsTTTTTTTTTTTTTTTTTTTTG (n.880+168_880+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*1068+168_*1068+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*1068+168_*1068+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*909+168_*909+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*909+168_*909+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*569+168_*569+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*569+168_*569+188delinsTTTTTTTTTTTTTTTTTTTTG) c.1156+168_1156+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1156+168_1156+188delinsTTTTTTTTTTTTTTTTTTTTG) c.*597+168_*597+188delinsTTTTTTTTTTTTTTTTTTTTG (n.*597+168_*597+188delinsTTTTTTTTTTTTTTTTTTTTG) n.1527+168_1527+188delinsTTTTTTTTTTTTTTTTTTTTG n.2840+168_2840+188delinsTTTTTTTTTTTTTTTTTTTTG n.340+168_340+188delinsTTTTTTTTTTTTTTTTTTTTG n.2128+168_2128+188delinsTTTTTTTTTTTTTTTTTTTTG n.1264+168_1264+188delinsTTTTTTTTTTTTTTTTTTTTG c.1018+168_1018+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1018+168_1018+188delinsTTTTTTTTTTTTTTTTTTTTG) c.853+168_853+188delinsTTTTTTTTTTTTTTTTTTTTG (n.853+168_853+188delinsTTTTTTTTTTTTTTTTTTTTG) c.1221+168_1221+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1221+168_1221+188delinsTTTTTTTTTTTTTTTTTTTTG) c.1209+168_1209+188delinsTTTTTTTTTTTTTTTTTTTTG (n.1209+168_1209+188delinsTTTTTTTTTTTTTTTTTTTTG) n.494+168_494+188delinsTTTTTTTTTTTTTTTTTTTTG c.956-5016_956-4996delinsTTTTTTTTTTTTTTTTTTTTG (n.956-5016_956-4996delinsTTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212111T>C | CA262618866 | PSEN1 | c.1117+169T>C (n.1117+169T>C) c.1129+169T>C (n.1129+169T>C) n.1879+169T>C c.*84+169T>C (n.*84+169T>C) n.1555+169T>C c.1009+169T>C (n.1009+169T>C) c.*1073+169T>C (n.*1073+169T>C) n.6679+169T>C c.*1341+169T>C (n.*1341+169T>C) c.944-5015T>C (n.944-5015T>C) c.1172+126T>C (n.1172+126T>C) c.*791+169T>C (n.*791+169T>C) c.*687+169T>C (n.*687+169T>C) c.1030+169T>C (n.1030+169T>C) c.*1218+169T>C (n.*1218+169T>C) c.880+169T>C (n.880+169T>C) c.*1068+169T>C (n.*1068+169T>C) c.*909+169T>C (n.*909+169T>C) c.*569+169T>C (n.*569+169T>C) c.1156+169T>C (n.1156+169T>C) c.*597+169T>C (n.*597+169T>C) n.1527+169T>C n.2840+169T>C n.340+169T>C n.2128+169T>C n.1264+169T>C c.1018+169T>C (n.1018+169T>C) c.853+169T>C (n.853+169T>C) c.1221+169T>C (n.1221+169T>C) c.1209+169T>C (n.1209+169T>C) n.494+169T>C c.956-5015T>C (n.956-5015T>C) | dbSNP gnomAD v2 |
14 | g.73212111T= | CA2146495586 | PSEN1 | c.1117+169T= (n.1117+169T=) c.1129+169T= (n.1129+169T=) n.1879+169T= c.*84+169T= (n.*84+169T=) n.1555+169T= c.1009+169T= (n.1009+169T=) c.*1073+169T= (n.*1073+169T=) n.6679+169T= c.*1341+169T= (n.*1341+169T=) c.944-5015T= (n.944-5015T=) c.1172+126T= (n.1172+126T=) c.*791+169T= (n.*791+169T=) c.*687+169T= (n.*687+169T=) c.1030+169T= (n.1030+169T=) c.*1218+169T= (n.*1218+169T=) c.880+169T= (n.880+169T=) c.*1068+169T= (n.*1068+169T=) c.*909+169T= (n.*909+169T=) c.*569+169T= (n.*569+169T=) c.1156+169T= (n.1156+169T=) c.*597+169T= (n.*597+169T=) n.1527+169T= n.2840+169T= n.340+169T= n.2128+169T= n.1264+169T= c.1018+169T= (n.1018+169T=) c.853+169T= (n.853+169T=) c.1221+169T= (n.1221+169T=) c.1209+169T= (n.1209+169T=) n.494+169T= c.956-5015T= (n.956-5015T=) | |
14 | g.73212111_73212130del | CA708388955 | PSEN1 | c.1117+169_1117+188del (n.1117+169_1117+188del) c.1129+169_1129+188del (n.1129+169_1129+188del) n.1879+169_1879+188del c.*84+169_*84+188del (n.*84+169_*84+188del) n.1555+169_1555+188del c.1009+169_1009+188del (n.1009+169_1009+188del) c.*1073+169_*1073+188del (n.*1073+169_*1073+188del) n.6679+169_6679+188del c.*1341+169_*1341+188del (n.*1341+169_*1341+188del) c.944-5015_944-4996del (n.944-5015_944-4996del) c.1172+126_1172+145del (n.1172+126_1172+145del) c.*791+169_*791+188del (n.*791+169_*791+188del) c.*687+169_*687+188del (n.*687+169_*687+188del) c.1030+169_1030+188del (n.1030+169_1030+188del) c.*1218+169_*1218+188del (n.*1218+169_*1218+188del) c.880+169_880+188del (n.880+169_880+188del) c.*1068+169_*1068+188del (n.*1068+169_*1068+188del) c.*909+169_*909+188del (n.*909+169_*909+188del) c.*569+169_*569+188del (n.*569+169_*569+188del) c.1156+169_1156+188del (n.1156+169_1156+188del) c.*597+169_*597+188del (n.*597+169_*597+188del) n.1527+169_1527+188del n.2840+169_2840+188del n.340+169_340+188del n.2128+169_2128+188del n.1264+169_1264+188del c.1018+169_1018+188del (n.1018+169_1018+188del) c.853+169_853+188del (n.853+169_853+188del) c.1221+169_1221+188del (n.1221+169_1221+188del) c.1209+169_1209+188del (n.1209+169_1209+188del) n.494+169_494+188del c.956-5015_956-4996del (n.956-5015_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212111_73212130delinsTTTTTTTTTTTTTTTTTTTG | CA2146495587 | PSEN1 | c.1117+169_1117+188delinsTTTTTTTTTTTTTTTTTTTG (n.1117+169_1117+188delinsTTTTTTTTTTTTTTTTTTTG) c.1129+169_1129+188delinsTTTTTTTTTTTTTTTTTTTG (n.1129+169_1129+188delinsTTTTTTTTTTTTTTTTTTTG) n.1879+169_1879+188delinsTTTTTTTTTTTTTTTTTTTG c.*84+169_*84+188delinsTTTTTTTTTTTTTTTTTTTG (n.*84+169_*84+188delinsTTTTTTTTTTTTTTTTTTTG) n.1555+169_1555+188delinsTTTTTTTTTTTTTTTTTTTG c.1009+169_1009+188delinsTTTTTTTTTTTTTTTTTTTG (n.1009+169_1009+188delinsTTTTTTTTTTTTTTTTTTTG) c.*1073+169_*1073+188delinsTTTTTTTTTTTTTTTTTTTG (n.*1073+169_*1073+188delinsTTTTTTTTTTTTTTTTTTTG) n.6679+169_6679+188delinsTTTTTTTTTTTTTTTTTTTG c.*1341+169_*1341+188delinsTTTTTTTTTTTTTTTTTTTG (n.*1341+169_*1341+188delinsTTTTTTTTTTTTTTTTTTTG) c.944-5015_944-4996delinsTTTTTTTTTTTTTTTTTTTG (n.944-5015_944-4996delinsTTTTTTTTTTTTTTTTTTTG) c.1172+126_1172+145delinsTTTTTTTTTTTTTTTTTTTG (n.1172+126_1172+145delinsTTTTTTTTTTTTTTTTTTTG) c.*791+169_*791+188delinsTTTTTTTTTTTTTTTTTTTG (n.*791+169_*791+188delinsTTTTTTTTTTTTTTTTTTTG) c.*687+169_*687+188delinsTTTTTTTTTTTTTTTTTTTG (n.*687+169_*687+188delinsTTTTTTTTTTTTTTTTTTTG) c.1030+169_1030+188delinsTTTTTTTTTTTTTTTTTTTG (n.1030+169_1030+188delinsTTTTTTTTTTTTTTTTTTTG) c.*1218+169_*1218+188delinsTTTTTTTTTTTTTTTTTTTG (n.*1218+169_*1218+188delinsTTTTTTTTTTTTTTTTTTTG) c.880+169_880+188delinsTTTTTTTTTTTTTTTTTTTG (n.880+169_880+188delinsTTTTTTTTTTTTTTTTTTTG) c.*1068+169_*1068+188delinsTTTTTTTTTTTTTTTTTTTG (n.*1068+169_*1068+188delinsTTTTTTTTTTTTTTTTTTTG) c.*909+169_*909+188delinsTTTTTTTTTTTTTTTTTTTG (n.*909+169_*909+188delinsTTTTTTTTTTTTTTTTTTTG) c.*569+169_*569+188delinsTTTTTTTTTTTTTTTTTTTG (n.*569+169_*569+188delinsTTTTTTTTTTTTTTTTTTTG) c.1156+169_1156+188delinsTTTTTTTTTTTTTTTTTTTG (n.1156+169_1156+188delinsTTTTTTTTTTTTTTTTTTTG) c.*597+169_*597+188delinsTTTTTTTTTTTTTTTTTTTG (n.*597+169_*597+188delinsTTTTTTTTTTTTTTTTTTTG) n.1527+169_1527+188delinsTTTTTTTTTTTTTTTTTTTG n.2840+169_2840+188delinsTTTTTTTTTTTTTTTTTTTG n.340+169_340+188delinsTTTTTTTTTTTTTTTTTTTG n.2128+169_2128+188delinsTTTTTTTTTTTTTTTTTTTG n.1264+169_1264+188delinsTTTTTTTTTTTTTTTTTTTG c.1018+169_1018+188delinsTTTTTTTTTTTTTTTTTTTG (n.1018+169_1018+188delinsTTTTTTTTTTTTTTTTTTTG) c.853+169_853+188delinsTTTTTTTTTTTTTTTTTTTG (n.853+169_853+188delinsTTTTTTTTTTTTTTTTTTTG) c.1221+169_1221+188delinsTTTTTTTTTTTTTTTTTTTG (n.1221+169_1221+188delinsTTTTTTTTTTTTTTTTTTTG) c.1209+169_1209+188delinsTTTTTTTTTTTTTTTTTTTG (n.1209+169_1209+188delinsTTTTTTTTTTTTTTTTTTTG) n.494+169_494+188delinsTTTTTTTTTTTTTTTTTTTG c.956-5015_956-4996delinsTTTTTTTTTTTTTTTTTTTG (n.956-5015_956-4996delinsTTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212112T>C | CA964615038 | PSEN1 | c.1117+170T>C (n.1117+170T>C) c.1129+170T>C (n.1129+170T>C) n.1879+170T>C c.*84+170T>C (n.*84+170T>C) n.1555+170T>C c.1009+170T>C (n.1009+170T>C) c.*1073+170T>C (n.*1073+170T>C) n.6679+170T>C c.*1341+170T>C (n.*1341+170T>C) c.944-5014T>C (n.944-5014T>C) c.1172+127T>C (n.1172+127T>C) c.*791+170T>C (n.*791+170T>C) c.*687+170T>C (n.*687+170T>C) c.1030+170T>C (n.1030+170T>C) c.*1218+170T>C (n.*1218+170T>C) c.880+170T>C (n.880+170T>C) c.*1068+170T>C (n.*1068+170T>C) c.*909+170T>C (n.*909+170T>C) c.*569+170T>C (n.*569+170T>C) c.1156+170T>C (n.1156+170T>C) c.*597+170T>C (n.*597+170T>C) n.1527+170T>C n.2840+170T>C n.340+170T>C n.2128+170T>C n.1264+170T>C c.1018+170T>C (n.1018+170T>C) c.853+170T>C (n.853+170T>C) c.1221+170T>C (n.1221+170T>C) c.1209+170T>C (n.1209+170T>C) n.494+170T>C c.956-5014T>C (n.956-5014T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212112T= | CA2146495588 | PSEN1 | c.1117+170T= (n.1117+170T=) c.1129+170T= (n.1129+170T=) n.1879+170T= c.*84+170T= (n.*84+170T=) n.1555+170T= c.1009+170T= (n.1009+170T=) c.*1073+170T= (n.*1073+170T=) n.6679+170T= c.*1341+170T= (n.*1341+170T=) c.944-5014T= (n.944-5014T=) c.1172+127T= (n.1172+127T=) c.*791+170T= (n.*791+170T=) c.*687+170T= (n.*687+170T=) c.1030+170T= (n.1030+170T=) c.*1218+170T= (n.*1218+170T=) c.880+170T= (n.880+170T=) c.*1068+170T= (n.*1068+170T=) c.*909+170T= (n.*909+170T=) c.*569+170T= (n.*569+170T=) c.1156+170T= (n.1156+170T=) c.*597+170T= (n.*597+170T=) n.1527+170T= n.2840+170T= n.340+170T= n.2128+170T= n.1264+170T= c.1018+170T= (n.1018+170T=) c.853+170T= (n.853+170T=) c.1221+170T= (n.1221+170T=) c.1209+170T= (n.1209+170T=) n.494+170T= c.956-5014T= (n.956-5014T=) | |
14 | g.73212112_73212130del | CA708388958 | PSEN1 | c.1117+170_1117+188del (n.1117+170_1117+188del) c.1129+170_1129+188del (n.1129+170_1129+188del) n.1879+170_1879+188del c.*84+170_*84+188del (n.*84+170_*84+188del) n.1555+170_1555+188del c.1009+170_1009+188del (n.1009+170_1009+188del) c.*1073+170_*1073+188del (n.*1073+170_*1073+188del) n.6679+170_6679+188del c.*1341+170_*1341+188del (n.*1341+170_*1341+188del) c.944-5014_944-4996del (n.944-5014_944-4996del) c.1172+127_1172+145del (n.1172+127_1172+145del) c.*791+170_*791+188del (n.*791+170_*791+188del) c.*687+170_*687+188del (n.*687+170_*687+188del) c.1030+170_1030+188del (n.1030+170_1030+188del) c.*1218+170_*1218+188del (n.*1218+170_*1218+188del) c.880+170_880+188del (n.880+170_880+188del) c.*1068+170_*1068+188del (n.*1068+170_*1068+188del) c.*909+170_*909+188del (n.*909+170_*909+188del) c.*569+170_*569+188del (n.*569+170_*569+188del) c.1156+170_1156+188del (n.1156+170_1156+188del) c.*597+170_*597+188del (n.*597+170_*597+188del) n.1527+170_1527+188del n.2840+170_2840+188del n.340+170_340+188del n.2128+170_2128+188del n.1264+170_1264+188del c.1018+170_1018+188del (n.1018+170_1018+188del) c.853+170_853+188del (n.853+170_853+188del) c.1221+170_1221+188del (n.1221+170_1221+188del) c.1209+170_1209+188del (n.1209+170_1209+188del) n.494+170_494+188del c.956-5014_956-4996del (n.956-5014_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212112_73212130delinsTTTTTTTTTTTTTTTTTTG | CA2146495589 | PSEN1 | c.1117+170_1117+188delinsTTTTTTTTTTTTTTTTTTG (n.1117+170_1117+188delinsTTTTTTTTTTTTTTTTTTG) c.1129+170_1129+188delinsTTTTTTTTTTTTTTTTTTG (n.1129+170_1129+188delinsTTTTTTTTTTTTTTTTTTG) n.1879+170_1879+188delinsTTTTTTTTTTTTTTTTTTG c.*84+170_*84+188delinsTTTTTTTTTTTTTTTTTTG (n.*84+170_*84+188delinsTTTTTTTTTTTTTTTTTTG) n.1555+170_1555+188delinsTTTTTTTTTTTTTTTTTTG c.1009+170_1009+188delinsTTTTTTTTTTTTTTTTTTG (n.1009+170_1009+188delinsTTTTTTTTTTTTTTTTTTG) c.*1073+170_*1073+188delinsTTTTTTTTTTTTTTTTTTG (n.*1073+170_*1073+188delinsTTTTTTTTTTTTTTTTTTG) n.6679+170_6679+188delinsTTTTTTTTTTTTTTTTTTG c.*1341+170_*1341+188delinsTTTTTTTTTTTTTTTTTTG (n.*1341+170_*1341+188delinsTTTTTTTTTTTTTTTTTTG) c.944-5014_944-4996delinsTTTTTTTTTTTTTTTTTTG (n.944-5014_944-4996delinsTTTTTTTTTTTTTTTTTTG) c.1172+127_1172+145delinsTTTTTTTTTTTTTTTTTTG (n.1172+127_1172+145delinsTTTTTTTTTTTTTTTTTTG) c.*791+170_*791+188delinsTTTTTTTTTTTTTTTTTTG (n.*791+170_*791+188delinsTTTTTTTTTTTTTTTTTTG) c.*687+170_*687+188delinsTTTTTTTTTTTTTTTTTTG (n.*687+170_*687+188delinsTTTTTTTTTTTTTTTTTTG) c.1030+170_1030+188delinsTTTTTTTTTTTTTTTTTTG (n.1030+170_1030+188delinsTTTTTTTTTTTTTTTTTTG) c.*1218+170_*1218+188delinsTTTTTTTTTTTTTTTTTTG (n.*1218+170_*1218+188delinsTTTTTTTTTTTTTTTTTTG) c.880+170_880+188delinsTTTTTTTTTTTTTTTTTTG (n.880+170_880+188delinsTTTTTTTTTTTTTTTTTTG) c.*1068+170_*1068+188delinsTTTTTTTTTTTTTTTTTTG (n.*1068+170_*1068+188delinsTTTTTTTTTTTTTTTTTTG) c.*909+170_*909+188delinsTTTTTTTTTTTTTTTTTTG (n.*909+170_*909+188delinsTTTTTTTTTTTTTTTTTTG) c.*569+170_*569+188delinsTTTTTTTTTTTTTTTTTTG (n.*569+170_*569+188delinsTTTTTTTTTTTTTTTTTTG) c.1156+170_1156+188delinsTTTTTTTTTTTTTTTTTTG (n.1156+170_1156+188delinsTTTTTTTTTTTTTTTTTTG) c.*597+170_*597+188delinsTTTTTTTTTTTTTTTTTTG (n.*597+170_*597+188delinsTTTTTTTTTTTTTTTTTTG) n.1527+170_1527+188delinsTTTTTTTTTTTTTTTTTTG n.2840+170_2840+188delinsTTTTTTTTTTTTTTTTTTG n.340+170_340+188delinsTTTTTTTTTTTTTTTTTTG n.2128+170_2128+188delinsTTTTTTTTTTTTTTTTTTG n.1264+170_1264+188delinsTTTTTTTTTTTTTTTTTTG c.1018+170_1018+188delinsTTTTTTTTTTTTTTTTTTG (n.1018+170_1018+188delinsTTTTTTTTTTTTTTTTTTG) c.853+170_853+188delinsTTTTTTTTTTTTTTTTTTG (n.853+170_853+188delinsTTTTTTTTTTTTTTTTTTG) c.1221+170_1221+188delinsTTTTTTTTTTTTTTTTTTG (n.1221+170_1221+188delinsTTTTTTTTTTTTTTTTTTG) c.1209+170_1209+188delinsTTTTTTTTTTTTTTTTTTG (n.1209+170_1209+188delinsTTTTTTTTTTTTTTTTTTG) n.494+170_494+188delinsTTTTTTTTTTTTTTTTTTG c.956-5014_956-4996delinsTTTTTTTTTTTTTTTTTTG (n.956-5014_956-4996delinsTTTTTTTTTTTTTTTTTTG) | |
14 | g.73212113T>A | CA2528341862 | PSEN1 | c.1117+171T>A (n.1117+171T>A) c.1129+171T>A (n.1129+171T>A) n.1879+171T>A c.*84+171T>A (n.*84+171T>A) n.1555+171T>A c.1009+171T>A (n.1009+171T>A) c.*1073+171T>A (n.*1073+171T>A) n.6679+171T>A c.*1341+171T>A (n.*1341+171T>A) c.944-5013T>A (n.944-5013T>A) c.1172+128T>A (n.1172+128T>A) c.*791+171T>A (n.*791+171T>A) c.*687+171T>A (n.*687+171T>A) c.1030+171T>A (n.1030+171T>A) c.*1218+171T>A (n.*1218+171T>A) c.880+171T>A (n.880+171T>A) c.*1068+171T>A (n.*1068+171T>A) c.*909+171T>A (n.*909+171T>A) c.*569+171T>A (n.*569+171T>A) c.1156+171T>A (n.1156+171T>A) c.*597+171T>A (n.*597+171T>A) n.1527+171T>A n.2840+171T>A n.340+171T>A n.2128+171T>A n.1264+171T>A c.1018+171T>A (n.1018+171T>A) c.853+171T>A (n.853+171T>A) c.1221+171T>A (n.1221+171T>A) c.1209+171T>A (n.1209+171T>A) n.494+171T>A c.956-5013T>A (n.956-5013T>A) | |
14 | g.73212113T>C | CA964615042 | PSEN1 | c.1117+171T>C (n.1117+171T>C) c.1129+171T>C (n.1129+171T>C) n.1879+171T>C c.*84+171T>C (n.*84+171T>C) n.1555+171T>C c.1009+171T>C (n.1009+171T>C) c.*1073+171T>C (n.*1073+171T>C) n.6679+171T>C c.*1341+171T>C (n.*1341+171T>C) c.944-5013T>C (n.944-5013T>C) c.1172+128T>C (n.1172+128T>C) c.*791+171T>C (n.*791+171T>C) c.*687+171T>C (n.*687+171T>C) c.1030+171T>C (n.1030+171T>C) c.*1218+171T>C (n.*1218+171T>C) c.880+171T>C (n.880+171T>C) c.*1068+171T>C (n.*1068+171T>C) c.*909+171T>C (n.*909+171T>C) c.*569+171T>C (n.*569+171T>C) c.1156+171T>C (n.1156+171T>C) c.*597+171T>C (n.*597+171T>C) n.1527+171T>C n.2840+171T>C n.340+171T>C n.2128+171T>C n.1264+171T>C c.1018+171T>C (n.1018+171T>C) c.853+171T>C (n.853+171T>C) c.1221+171T>C (n.1221+171T>C) c.1209+171T>C (n.1209+171T>C) n.494+171T>C c.956-5013T>C (n.956-5013T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212113T= | CA2146495591 | PSEN1 | c.1117+171T= (n.1117+171T=) c.1129+171T= (n.1129+171T=) n.1879+171T= c.*84+171T= (n.*84+171T=) n.1555+171T= c.1009+171T= (n.1009+171T=) c.*1073+171T= (n.*1073+171T=) n.6679+171T= c.*1341+171T= (n.*1341+171T=) c.944-5013T= (n.944-5013T=) c.1172+128T= (n.1172+128T=) c.*791+171T= (n.*791+171T=) c.*687+171T= (n.*687+171T=) c.1030+171T= (n.1030+171T=) c.*1218+171T= (n.*1218+171T=) c.880+171T= (n.880+171T=) c.*1068+171T= (n.*1068+171T=) c.*909+171T= (n.*909+171T=) c.*569+171T= (n.*569+171T=) c.1156+171T= (n.1156+171T=) c.*597+171T= (n.*597+171T=) n.1527+171T= n.2840+171T= n.340+171T= n.2128+171T= n.1264+171T= c.1018+171T= (n.1018+171T=) c.853+171T= (n.853+171T=) c.1221+171T= (n.1221+171T=) c.1209+171T= (n.1209+171T=) n.494+171T= c.956-5013T= (n.956-5013T=) | |
14 | g.73212113_73212130del | CA2146495590 | PSEN1 | c.1117+171_1117+188del (n.1117+171_1117+188del) c.1129+171_1129+188del (n.1129+171_1129+188del) n.1879+171_1879+188del c.*84+171_*84+188del (n.*84+171_*84+188del) n.1555+171_1555+188del c.1009+171_1009+188del (n.1009+171_1009+188del) c.*1073+171_*1073+188del (n.*1073+171_*1073+188del) n.6679+171_6679+188del c.*1341+171_*1341+188del (n.*1341+171_*1341+188del) c.944-5013_944-4996del (n.944-5013_944-4996del) c.1172+128_1172+145del (n.1172+128_1172+145del) c.*791+171_*791+188del (n.*791+171_*791+188del) c.*687+171_*687+188del (n.*687+171_*687+188del) c.1030+171_1030+188del (n.1030+171_1030+188del) c.*1218+171_*1218+188del (n.*1218+171_*1218+188del) c.880+171_880+188del (n.880+171_880+188del) c.*1068+171_*1068+188del (n.*1068+171_*1068+188del) c.*909+171_*909+188del (n.*909+171_*909+188del) c.*569+171_*569+188del (n.*569+171_*569+188del) c.1156+171_1156+188del (n.1156+171_1156+188del) c.*597+171_*597+188del (n.*597+171_*597+188del) n.1527+171_1527+188del n.2840+171_2840+188del n.340+171_340+188del n.2128+171_2128+188del n.1264+171_1264+188del c.1018+171_1018+188del (n.1018+171_1018+188del) c.853+171_853+188del (n.853+171_853+188del) c.1221+171_1221+188del (n.1221+171_1221+188del) c.1209+171_1209+188del (n.1209+171_1209+188del) n.494+171_494+188del c.956-5013_956-4996del (n.956-5013_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212113_73212131del | CA964615040 | PSEN1 | c.1117+171_1117+189del (n.1117+171_1117+189del) c.1129+171_1129+189del (n.1129+171_1129+189del) n.1879+171_1879+189del c.*84+171_*84+189del (n.*84+171_*84+189del) n.1555+171_1555+189del c.1009+171_1009+189del (n.1009+171_1009+189del) c.*1073+171_*1073+189del (n.*1073+171_*1073+189del) n.6679+171_6679+189del c.*1341+171_*1341+189del (n.*1341+171_*1341+189del) c.944-5013_944-4995del (n.944-5013_944-4995del) c.1172+128_1172+146del (n.1172+128_1172+146del) c.*791+171_*791+189del (n.*791+171_*791+189del) c.*687+171_*687+189del (n.*687+171_*687+189del) c.1030+171_1030+189del (n.1030+171_1030+189del) c.*1218+171_*1218+189del (n.*1218+171_*1218+189del) c.880+171_880+189del (n.880+171_880+189del) c.*1068+171_*1068+189del (n.*1068+171_*1068+189del) c.*909+171_*909+189del (n.*909+171_*909+189del) c.*569+171_*569+189del (n.*569+171_*569+189del) c.1156+171_1156+189del (n.1156+171_1156+189del) c.*597+171_*597+189del (n.*597+171_*597+189del) n.1527+171_1527+189del n.2840+171_2840+189del n.340+171_340+189del n.2128+171_2128+189del n.1264+171_1264+189del c.1018+171_1018+189del (n.1018+171_1018+189del) c.853+171_853+189del (n.853+171_853+189del) c.1221+171_1221+189del (n.1221+171_1221+189del) c.1209+171_1209+189del (n.1209+171_1209+189del) n.494+171_494+189del c.956-5013_956-4995del (n.956-5013_956-4995del) | gnomAD v3 gnomAD v4 |
14 | g.73212114T>C | CA2555437374 | PSEN1 | c.1117+172T>C (n.1117+172T>C) c.1129+172T>C (n.1129+172T>C) n.1879+172T>C c.*84+172T>C (n.*84+172T>C) n.1555+172T>C c.1009+172T>C (n.1009+172T>C) c.*1073+172T>C (n.*1073+172T>C) n.6679+172T>C c.*1341+172T>C (n.*1341+172T>C) c.944-5012T>C (n.944-5012T>C) c.1172+129T>C (n.1172+129T>C) c.*791+172T>C (n.*791+172T>C) c.*687+172T>C (n.*687+172T>C) c.1030+172T>C (n.1030+172T>C) c.*1218+172T>C (n.*1218+172T>C) c.880+172T>C (n.880+172T>C) c.*1068+172T>C (n.*1068+172T>C) c.*909+172T>C (n.*909+172T>C) c.*569+172T>C (n.*569+172T>C) c.1156+172T>C (n.1156+172T>C) c.*597+172T>C (n.*597+172T>C) n.1527+172T>C n.2840+172T>C n.340+172T>C n.2128+172T>C n.1264+172T>C c.1018+172T>C (n.1018+172T>C) c.853+172T>C (n.853+172T>C) c.1221+172T>C (n.1221+172T>C) c.1209+172T>C (n.1209+172T>C) n.494+172T>C c.956-5012T>C (n.956-5012T>C) | |
14 | g.73212114_73212130delinsTTTTTTTTTTTTTTTTG | CA2146495592 | PSEN1 | c.1117+172_1117+188delinsTTTTTTTTTTTTTTTTG (n.1117+172_1117+188delinsTTTTTTTTTTTTTTTTG) c.1129+172_1129+188delinsTTTTTTTTTTTTTTTTG (n.1129+172_1129+188delinsTTTTTTTTTTTTTTTTG) n.1879+172_1879+188delinsTTTTTTTTTTTTTTTTG c.*84+172_*84+188delinsTTTTTTTTTTTTTTTTG (n.*84+172_*84+188delinsTTTTTTTTTTTTTTTTG) n.1555+172_1555+188delinsTTTTTTTTTTTTTTTTG c.1009+172_1009+188delinsTTTTTTTTTTTTTTTTG (n.1009+172_1009+188delinsTTTTTTTTTTTTTTTTG) c.*1073+172_*1073+188delinsTTTTTTTTTTTTTTTTG (n.*1073+172_*1073+188delinsTTTTTTTTTTTTTTTTG) n.6679+172_6679+188delinsTTTTTTTTTTTTTTTTG c.*1341+172_*1341+188delinsTTTTTTTTTTTTTTTTG (n.*1341+172_*1341+188delinsTTTTTTTTTTTTTTTTG) c.944-5012_944-4996delinsTTTTTTTTTTTTTTTTG (n.944-5012_944-4996delinsTTTTTTTTTTTTTTTTG) c.1172+129_1172+145delinsTTTTTTTTTTTTTTTTG (n.1172+129_1172+145delinsTTTTTTTTTTTTTTTTG) c.*791+172_*791+188delinsTTTTTTTTTTTTTTTTG (n.*791+172_*791+188delinsTTTTTTTTTTTTTTTTG) c.*687+172_*687+188delinsTTTTTTTTTTTTTTTTG (n.*687+172_*687+188delinsTTTTTTTTTTTTTTTTG) c.1030+172_1030+188delinsTTTTTTTTTTTTTTTTG (n.1030+172_1030+188delinsTTTTTTTTTTTTTTTTG) c.*1218+172_*1218+188delinsTTTTTTTTTTTTTTTTG (n.*1218+172_*1218+188delinsTTTTTTTTTTTTTTTTG) c.880+172_880+188delinsTTTTTTTTTTTTTTTTG (n.880+172_880+188delinsTTTTTTTTTTTTTTTTG) c.*1068+172_*1068+188delinsTTTTTTTTTTTTTTTTG (n.*1068+172_*1068+188delinsTTTTTTTTTTTTTTTTG) c.*909+172_*909+188delinsTTTTTTTTTTTTTTTTG (n.*909+172_*909+188delinsTTTTTTTTTTTTTTTTG) c.*569+172_*569+188delinsTTTTTTTTTTTTTTTTG (n.*569+172_*569+188delinsTTTTTTTTTTTTTTTTG) c.1156+172_1156+188delinsTTTTTTTTTTTTTTTTG (n.1156+172_1156+188delinsTTTTTTTTTTTTTTTTG) c.*597+172_*597+188delinsTTTTTTTTTTTTTTTTG (n.*597+172_*597+188delinsTTTTTTTTTTTTTTTTG) n.1527+172_1527+188delinsTTTTTTTTTTTTTTTTG n.2840+172_2840+188delinsTTTTTTTTTTTTTTTTG n.340+172_340+188delinsTTTTTTTTTTTTTTTTG n.2128+172_2128+188delinsTTTTTTTTTTTTTTTTG n.1264+172_1264+188delinsTTTTTTTTTTTTTTTTG c.1018+172_1018+188delinsTTTTTTTTTTTTTTTTG (n.1018+172_1018+188delinsTTTTTTTTTTTTTTTTG) c.853+172_853+188delinsTTTTTTTTTTTTTTTTG (n.853+172_853+188delinsTTTTTTTTTTTTTTTTG) c.1221+172_1221+188delinsTTTTTTTTTTTTTTTTG (n.1221+172_1221+188delinsTTTTTTTTTTTTTTTTG) c.1209+172_1209+188delinsTTTTTTTTTTTTTTTTG (n.1209+172_1209+188delinsTTTTTTTTTTTTTTTTG) n.494+172_494+188delinsTTTTTTTTTTTTTTTTG c.956-5012_956-4996delinsTTTTTTTTTTTTTTTTG (n.956-5012_956-4996delinsTTTTTTTTTTTTTTTTG) | |
14 | g.73212114_73212132del | CA2802117614 | PSEN1 | c.1117+172_1117+190del (n.1117+172_1117+190del) c.1129+172_1129+190del (n.1129+172_1129+190del) n.1879+172_1879+190del c.*84+172_*84+190del (n.*84+172_*84+190del) n.1555+172_1555+190del c.1009+172_1009+190del (n.1009+172_1009+190del) c.*1073+172_*1073+190del (n.*1073+172_*1073+190del) n.6679+172_6679+190del c.*1341+172_*1341+190del (n.*1341+172_*1341+190del) c.944-5012_944-4994del (n.944-5012_944-4994del) c.1172+129_1172+147del (n.1172+129_1172+147del) c.*791+172_*791+190del (n.*791+172_*791+190del) c.*687+172_*687+190del (n.*687+172_*687+190del) c.1030+172_1030+190del (n.1030+172_1030+190del) c.*1218+172_*1218+190del (n.*1218+172_*1218+190del) c.880+172_880+190del (n.880+172_880+190del) c.*1068+172_*1068+190del (n.*1068+172_*1068+190del) c.*909+172_*909+190del (n.*909+172_*909+190del) c.*569+172_*569+190del (n.*569+172_*569+190del) c.1156+172_1156+190del (n.1156+172_1156+190del) c.*597+172_*597+190del (n.*597+172_*597+190del) n.1527+172_1527+190del n.2840+172_2840+190del n.340+172_340+190del n.2128+172_2128+190del n.1264+172_1264+190del c.1018+172_1018+190del (n.1018+172_1018+190del) c.853+172_853+190del (n.853+172_853+190del) c.1221+172_1221+190del (n.1221+172_1221+190del) c.1209+172_1209+190del (n.1209+172_1209+190del) n.494+172_494+190del c.956-5012_956-4994del (n.956-5012_956-4994del) | |
14 | g.73212115T>A | CA2509885164 | PSEN1 | c.1117+173T>A (n.1117+173T>A) c.1129+173T>A (n.1129+173T>A) n.1879+173T>A c.*84+173T>A (n.*84+173T>A) n.1555+173T>A c.1009+173T>A (n.1009+173T>A) c.*1073+173T>A (n.*1073+173T>A) n.6679+173T>A c.*1341+173T>A (n.*1341+173T>A) c.944-5011T>A (n.944-5011T>A) c.1172+130T>A (n.1172+130T>A) c.*791+173T>A (n.*791+173T>A) c.*687+173T>A (n.*687+173T>A) c.1030+173T>A (n.1030+173T>A) c.*1218+173T>A (n.*1218+173T>A) c.880+173T>A (n.880+173T>A) c.*1068+173T>A (n.*1068+173T>A) c.*909+173T>A (n.*909+173T>A) c.*569+173T>A (n.*569+173T>A) c.1156+173T>A (n.1156+173T>A) c.*597+173T>A (n.*597+173T>A) n.1527+173T>A n.2840+173T>A n.340+173T>A n.2128+173T>A n.1264+173T>A c.1018+173T>A (n.1018+173T>A) c.853+173T>A (n.853+173T>A) c.1221+173T>A (n.1221+173T>A) c.1209+173T>A (n.1209+173T>A) n.494+173T>A c.956-5011T>A (n.956-5011T>A) | |
14 | g.73212115T>C | CA708388960 | PSEN1 | c.1117+173T>C (n.1117+173T>C) c.1129+173T>C (n.1129+173T>C) n.1879+173T>C c.*84+173T>C (n.*84+173T>C) n.1555+173T>C c.1009+173T>C (n.1009+173T>C) c.*1073+173T>C (n.*1073+173T>C) n.6679+173T>C c.*1341+173T>C (n.*1341+173T>C) c.944-5011T>C (n.944-5011T>C) c.1172+130T>C (n.1172+130T>C) c.*791+173T>C (n.*791+173T>C) c.*687+173T>C (n.*687+173T>C) c.1030+173T>C (n.1030+173T>C) c.*1218+173T>C (n.*1218+173T>C) c.880+173T>C (n.880+173T>C) c.*1068+173T>C (n.*1068+173T>C) c.*909+173T>C (n.*909+173T>C) c.*569+173T>C (n.*569+173T>C) c.1156+173T>C (n.1156+173T>C) c.*597+173T>C (n.*597+173T>C) n.1527+173T>C n.2840+173T>C n.340+173T>C n.2128+173T>C n.1264+173T>C c.1018+173T>C (n.1018+173T>C) c.853+173T>C (n.853+173T>C) c.1221+173T>C (n.1221+173T>C) c.1209+173T>C (n.1209+173T>C) n.494+173T>C c.956-5011T>C (n.956-5011T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212115T= | CA2146495594 | PSEN1 | c.1117+173T= (n.1117+173T=) c.1129+173T= (n.1129+173T=) n.1879+173T= c.*84+173T= (n.*84+173T=) n.1555+173T= c.1009+173T= (n.1009+173T=) c.*1073+173T= (n.*1073+173T=) n.6679+173T= c.*1341+173T= (n.*1341+173T=) c.944-5011T= (n.944-5011T=) c.1172+130T= (n.1172+130T=) c.*791+173T= (n.*791+173T=) c.*687+173T= (n.*687+173T=) c.1030+173T= (n.1030+173T=) c.*1218+173T= (n.*1218+173T=) c.880+173T= (n.880+173T=) c.*1068+173T= (n.*1068+173T=) c.*909+173T= (n.*909+173T=) c.*569+173T= (n.*569+173T=) c.1156+173T= (n.1156+173T=) c.*597+173T= (n.*597+173T=) n.1527+173T= n.2840+173T= n.340+173T= n.2128+173T= n.1264+173T= c.1018+173T= (n.1018+173T=) c.853+173T= (n.853+173T=) c.1221+173T= (n.1221+173T=) c.1209+173T= (n.1209+173T=) n.494+173T= c.956-5011T= (n.956-5011T=) | |
14 | g.73212115_73212130del | CA708388959 | PSEN1 | c.1117+173_1117+188del (n.1117+173_1117+188del) c.1129+173_1129+188del (n.1129+173_1129+188del) n.1879+173_1879+188del c.*84+173_*84+188del (n.*84+173_*84+188del) n.1555+173_1555+188del c.1009+173_1009+188del (n.1009+173_1009+188del) c.*1073+173_*1073+188del (n.*1073+173_*1073+188del) n.6679+173_6679+188del c.*1341+173_*1341+188del (n.*1341+173_*1341+188del) c.944-5011_944-4996del (n.944-5011_944-4996del) c.1172+130_1172+145del (n.1172+130_1172+145del) c.*791+173_*791+188del (n.*791+173_*791+188del) c.*687+173_*687+188del (n.*687+173_*687+188del) c.1030+173_1030+188del (n.1030+173_1030+188del) c.*1218+173_*1218+188del (n.*1218+173_*1218+188del) c.880+173_880+188del (n.880+173_880+188del) c.*1068+173_*1068+188del (n.*1068+173_*1068+188del) c.*909+173_*909+188del (n.*909+173_*909+188del) c.*569+173_*569+188del (n.*569+173_*569+188del) c.1156+173_1156+188del (n.1156+173_1156+188del) c.*597+173_*597+188del (n.*597+173_*597+188del) n.1527+173_1527+188del n.2840+173_2840+188del n.340+173_340+188del n.2128+173_2128+188del n.1264+173_1264+188del c.1018+173_1018+188del (n.1018+173_1018+188del) c.853+173_853+188del (n.853+173_853+188del) c.1221+173_1221+188del (n.1221+173_1221+188del) c.1209+173_1209+188del (n.1209+173_1209+188del) n.494+173_494+188del c.956-5011_956-4996del (n.956-5011_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212115_73212130delinsTTTTTTTTTTTTTTTG | CA2146495593 | PSEN1 | c.1117+173_1117+188delinsTTTTTTTTTTTTTTTG (n.1117+173_1117+188delinsTTTTTTTTTTTTTTTG) c.1129+173_1129+188delinsTTTTTTTTTTTTTTTG (n.1129+173_1129+188delinsTTTTTTTTTTTTTTTG) n.1879+173_1879+188delinsTTTTTTTTTTTTTTTG c.*84+173_*84+188delinsTTTTTTTTTTTTTTTG (n.*84+173_*84+188delinsTTTTTTTTTTTTTTTG) n.1555+173_1555+188delinsTTTTTTTTTTTTTTTG c.1009+173_1009+188delinsTTTTTTTTTTTTTTTG (n.1009+173_1009+188delinsTTTTTTTTTTTTTTTG) c.*1073+173_*1073+188delinsTTTTTTTTTTTTTTTG (n.*1073+173_*1073+188delinsTTTTTTTTTTTTTTTG) n.6679+173_6679+188delinsTTTTTTTTTTTTTTTG c.*1341+173_*1341+188delinsTTTTTTTTTTTTTTTG (n.*1341+173_*1341+188delinsTTTTTTTTTTTTTTTG) c.944-5011_944-4996delinsTTTTTTTTTTTTTTTG (n.944-5011_944-4996delinsTTTTTTTTTTTTTTTG) c.1172+130_1172+145delinsTTTTTTTTTTTTTTTG (n.1172+130_1172+145delinsTTTTTTTTTTTTTTTG) c.*791+173_*791+188delinsTTTTTTTTTTTTTTTG (n.*791+173_*791+188delinsTTTTTTTTTTTTTTTG) c.*687+173_*687+188delinsTTTTTTTTTTTTTTTG (n.*687+173_*687+188delinsTTTTTTTTTTTTTTTG) c.1030+173_1030+188delinsTTTTTTTTTTTTTTTG (n.1030+173_1030+188delinsTTTTTTTTTTTTTTTG) c.*1218+173_*1218+188delinsTTTTTTTTTTTTTTTG (n.*1218+173_*1218+188delinsTTTTTTTTTTTTTTTG) c.880+173_880+188delinsTTTTTTTTTTTTTTTG (n.880+173_880+188delinsTTTTTTTTTTTTTTTG) c.*1068+173_*1068+188delinsTTTTTTTTTTTTTTTG (n.*1068+173_*1068+188delinsTTTTTTTTTTTTTTTG) c.*909+173_*909+188delinsTTTTTTTTTTTTTTTG (n.*909+173_*909+188delinsTTTTTTTTTTTTTTTG) c.*569+173_*569+188delinsTTTTTTTTTTTTTTTG (n.*569+173_*569+188delinsTTTTTTTTTTTTTTTG) c.1156+173_1156+188delinsTTTTTTTTTTTTTTTG (n.1156+173_1156+188delinsTTTTTTTTTTTTTTTG) c.*597+173_*597+188delinsTTTTTTTTTTTTTTTG (n.*597+173_*597+188delinsTTTTTTTTTTTTTTTG) n.1527+173_1527+188delinsTTTTTTTTTTTTTTTG n.2840+173_2840+188delinsTTTTTTTTTTTTTTTG n.340+173_340+188delinsTTTTTTTTTTTTTTTG n.2128+173_2128+188delinsTTTTTTTTTTTTTTTG n.1264+173_1264+188delinsTTTTTTTTTTTTTTTG c.1018+173_1018+188delinsTTTTTTTTTTTTTTTG (n.1018+173_1018+188delinsTTTTTTTTTTTTTTTG) c.853+173_853+188delinsTTTTTTTTTTTTTTTG (n.853+173_853+188delinsTTTTTTTTTTTTTTTG) c.1221+173_1221+188delinsTTTTTTTTTTTTTTTG (n.1221+173_1221+188delinsTTTTTTTTTTTTTTTG) c.1209+173_1209+188delinsTTTTTTTTTTTTTTTG (n.1209+173_1209+188delinsTTTTTTTTTTTTTTTG) n.494+173_494+188delinsTTTTTTTTTTTTTTTG c.956-5011_956-4996delinsTTTTTTTTTTTTTTTG (n.956-5011_956-4996delinsTTTTTTTTTTTTTTTG) | |
14 | g.73212115_73212116insGAAAG | CA2802117619 | PSEN1 | c.1117+173_1117+174insGAAAG (n.1117+173_1117+174insGAAAG) c.1129+173_1129+174insGAAAG (n.1129+173_1129+174insGAAAG) n.1879+173_1879+174insGAAAG c.*84+173_*84+174insGAAAG (n.*84+173_*84+174insGAAAG) n.1555+173_1555+174insGAAAG c.1009+173_1009+174insGAAAG (n.1009+173_1009+174insGAAAG) c.*1073+173_*1073+174insGAAAG (n.*1073+173_*1073+174insGAAAG) n.6679+173_6679+174insGAAAG c.*1341+173_*1341+174insGAAAG (n.*1341+173_*1341+174insGAAAG) c.944-5011_944-5010insGAAAG (n.944-5011_944-5010insGAAAG) c.1172+130_1172+131insGAAAG (n.1172+130_1172+131insGAAAG) c.*791+173_*791+174insGAAAG (n.*791+173_*791+174insGAAAG) c.*687+173_*687+174insGAAAG (n.*687+173_*687+174insGAAAG) c.1030+173_1030+174insGAAAG (n.1030+173_1030+174insGAAAG) c.*1218+173_*1218+174insGAAAG (n.*1218+173_*1218+174insGAAAG) c.880+173_880+174insGAAAG (n.880+173_880+174insGAAAG) c.*1068+173_*1068+174insGAAAG (n.*1068+173_*1068+174insGAAAG) c.*909+173_*909+174insGAAAG (n.*909+173_*909+174insGAAAG) c.*569+173_*569+174insGAAAG (n.*569+173_*569+174insGAAAG) c.1156+173_1156+174insGAAAG (n.1156+173_1156+174insGAAAG) c.*597+173_*597+174insGAAAG (n.*597+173_*597+174insGAAAG) n.1527+173_1527+174insGAAAG n.2840+173_2840+174insGAAAG n.340+173_340+174insGAAAG n.2128+173_2128+174insGAAAG n.1264+173_1264+174insGAAAG c.1018+173_1018+174insGAAAG (n.1018+173_1018+174insGAAAG) c.853+173_853+174insGAAAG (n.853+173_853+174insGAAAG) c.1221+173_1221+174insGAAAG (n.1221+173_1221+174insGAAAG) c.1209+173_1209+174insGAAAG (n.1209+173_1209+174insGAAAG) n.494+173_494+174insGAAAG c.956-5011_956-5010insGAAAG (n.956-5011_956-5010insGAAAG) | |
14 | g.73212116_73212130del | CA964615045 | PSEN1 | c.1117+174_1117+188del (n.1117+174_1117+188del) c.1129+174_1129+188del (n.1129+174_1129+188del) n.1879+174_1879+188del c.*84+174_*84+188del (n.*84+174_*84+188del) n.1555+174_1555+188del c.1009+174_1009+188del (n.1009+174_1009+188del) c.*1073+174_*1073+188del (n.*1073+174_*1073+188del) n.6679+174_6679+188del c.*1341+174_*1341+188del (n.*1341+174_*1341+188del) c.944-5010_944-4996del (n.944-5010_944-4996del) c.1172+131_1172+145del (n.1172+131_1172+145del) c.*791+174_*791+188del (n.*791+174_*791+188del) c.*687+174_*687+188del (n.*687+174_*687+188del) c.1030+174_1030+188del (n.1030+174_1030+188del) c.*1218+174_*1218+188del (n.*1218+174_*1218+188del) c.880+174_880+188del (n.880+174_880+188del) c.*1068+174_*1068+188del (n.*1068+174_*1068+188del) c.*909+174_*909+188del (n.*909+174_*909+188del) c.*569+174_*569+188del (n.*569+174_*569+188del) c.1156+174_1156+188del (n.1156+174_1156+188del) c.*597+174_*597+188del (n.*597+174_*597+188del) n.1527+174_1527+188del n.2840+174_2840+188del n.340+174_340+188del n.2128+174_2128+188del n.1264+174_1264+188del c.1018+174_1018+188del (n.1018+174_1018+188del) c.853+174_853+188del (n.853+174_853+188del) c.1221+174_1221+188del (n.1221+174_1221+188del) c.1209+174_1209+188del (n.1209+174_1209+188del) n.494+174_494+188del c.956-5010_956-4996del (n.956-5010_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212116_73212130delinsTTTTTTTTTTTTTTG | CA2146495595 | PSEN1 | c.1117+174_1117+188delinsTTTTTTTTTTTTTTG (n.1117+174_1117+188delinsTTTTTTTTTTTTTTG) c.1129+174_1129+188delinsTTTTTTTTTTTTTTG (n.1129+174_1129+188delinsTTTTTTTTTTTTTTG) n.1879+174_1879+188delinsTTTTTTTTTTTTTTG c.*84+174_*84+188delinsTTTTTTTTTTTTTTG (n.*84+174_*84+188delinsTTTTTTTTTTTTTTG) n.1555+174_1555+188delinsTTTTTTTTTTTTTTG c.1009+174_1009+188delinsTTTTTTTTTTTTTTG (n.1009+174_1009+188delinsTTTTTTTTTTTTTTG) c.*1073+174_*1073+188delinsTTTTTTTTTTTTTTG (n.*1073+174_*1073+188delinsTTTTTTTTTTTTTTG) n.6679+174_6679+188delinsTTTTTTTTTTTTTTG c.*1341+174_*1341+188delinsTTTTTTTTTTTTTTG (n.*1341+174_*1341+188delinsTTTTTTTTTTTTTTG) c.944-5010_944-4996delinsTTTTTTTTTTTTTTG (n.944-5010_944-4996delinsTTTTTTTTTTTTTTG) c.1172+131_1172+145delinsTTTTTTTTTTTTTTG (n.1172+131_1172+145delinsTTTTTTTTTTTTTTG) c.*791+174_*791+188delinsTTTTTTTTTTTTTTG (n.*791+174_*791+188delinsTTTTTTTTTTTTTTG) c.*687+174_*687+188delinsTTTTTTTTTTTTTTG (n.*687+174_*687+188delinsTTTTTTTTTTTTTTG) c.1030+174_1030+188delinsTTTTTTTTTTTTTTG (n.1030+174_1030+188delinsTTTTTTTTTTTTTTG) c.*1218+174_*1218+188delinsTTTTTTTTTTTTTTG (n.*1218+174_*1218+188delinsTTTTTTTTTTTTTTG) c.880+174_880+188delinsTTTTTTTTTTTTTTG (n.880+174_880+188delinsTTTTTTTTTTTTTTG) c.*1068+174_*1068+188delinsTTTTTTTTTTTTTTG (n.*1068+174_*1068+188delinsTTTTTTTTTTTTTTG) c.*909+174_*909+188delinsTTTTTTTTTTTTTTG (n.*909+174_*909+188delinsTTTTTTTTTTTTTTG) c.*569+174_*569+188delinsTTTTTTTTTTTTTTG (n.*569+174_*569+188delinsTTTTTTTTTTTTTTG) c.1156+174_1156+188delinsTTTTTTTTTTTTTTG (n.1156+174_1156+188delinsTTTTTTTTTTTTTTG) c.*597+174_*597+188delinsTTTTTTTTTTTTTTG (n.*597+174_*597+188delinsTTTTTTTTTTTTTTG) n.1527+174_1527+188delinsTTTTTTTTTTTTTTG n.2840+174_2840+188delinsTTTTTTTTTTTTTTG n.340+174_340+188delinsTTTTTTTTTTTTTTG n.2128+174_2128+188delinsTTTTTTTTTTTTTTG n.1264+174_1264+188delinsTTTTTTTTTTTTTTG c.1018+174_1018+188delinsTTTTTTTTTTTTTTG (n.1018+174_1018+188delinsTTTTTTTTTTTTTTG) c.853+174_853+188delinsTTTTTTTTTTTTTTG (n.853+174_853+188delinsTTTTTTTTTTTTTTG) c.1221+174_1221+188delinsTTTTTTTTTTTTTTG (n.1221+174_1221+188delinsTTTTTTTTTTTTTTG) c.1209+174_1209+188delinsTTTTTTTTTTTTTTG (n.1209+174_1209+188delinsTTTTTTTTTTTTTTG) n.494+174_494+188delinsTTTTTTTTTTTTTTG c.956-5010_956-4996delinsTTTTTTTTTTTTTTG (n.956-5010_956-4996delinsTTTTTTTTTTTTTTG) | |
14 | g.73212116_73212131del | CA964615047 | PSEN1 | c.1117+174_1117+189del (n.1117+174_1117+189del) c.1129+174_1129+189del (n.1129+174_1129+189del) n.1879+174_1879+189del c.*84+174_*84+189del (n.*84+174_*84+189del) n.1555+174_1555+189del c.1009+174_1009+189del (n.1009+174_1009+189del) c.*1073+174_*1073+189del (n.*1073+174_*1073+189del) n.6679+174_6679+189del c.*1341+174_*1341+189del (n.*1341+174_*1341+189del) c.944-5010_944-4995del (n.944-5010_944-4995del) c.1172+131_1172+146del (n.1172+131_1172+146del) c.*791+174_*791+189del (n.*791+174_*791+189del) c.*687+174_*687+189del (n.*687+174_*687+189del) c.1030+174_1030+189del (n.1030+174_1030+189del) c.*1218+174_*1218+189del (n.*1218+174_*1218+189del) c.880+174_880+189del (n.880+174_880+189del) c.*1068+174_*1068+189del (n.*1068+174_*1068+189del) c.*909+174_*909+189del (n.*909+174_*909+189del) c.*569+174_*569+189del (n.*569+174_*569+189del) c.1156+174_1156+189del (n.1156+174_1156+189del) c.*597+174_*597+189del (n.*597+174_*597+189del) n.1527+174_1527+189del n.2840+174_2840+189del n.340+174_340+189del n.2128+174_2128+189del n.1264+174_1264+189del c.1018+174_1018+189del (n.1018+174_1018+189del) c.853+174_853+189del (n.853+174_853+189del) c.1221+174_1221+189del (n.1221+174_1221+189del) c.1209+174_1209+189del (n.1209+174_1209+189del) n.494+174_494+189del c.956-5010_956-4995del (n.956-5010_956-4995del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212117T>C | CA2146495597 | PSEN1 | c.1117+175T>C (n.1117+175T>C) c.1129+175T>C (n.1129+175T>C) n.1879+175T>C c.*84+175T>C (n.*84+175T>C) n.1555+175T>C c.1009+175T>C (n.1009+175T>C) c.*1073+175T>C (n.*1073+175T>C) n.6679+175T>C c.*1341+175T>C (n.*1341+175T>C) c.944-5009T>C (n.944-5009T>C) c.1172+132T>C (n.1172+132T>C) c.*791+175T>C (n.*791+175T>C) c.*687+175T>C (n.*687+175T>C) c.1030+175T>C (n.1030+175T>C) c.*1218+175T>C (n.*1218+175T>C) c.880+175T>C (n.880+175T>C) c.*1068+175T>C (n.*1068+175T>C) c.*909+175T>C (n.*909+175T>C) c.*569+175T>C (n.*569+175T>C) c.1156+175T>C (n.1156+175T>C) c.*597+175T>C (n.*597+175T>C) n.1527+175T>C n.2840+175T>C n.340+175T>C n.2128+175T>C n.1264+175T>C c.1018+175T>C (n.1018+175T>C) c.853+175T>C (n.853+175T>C) c.1221+175T>C (n.1221+175T>C) c.1209+175T>C (n.1209+175T>C) n.494+175T>C c.956-5009T>C (n.956-5009T>C) | dbSNP |
14 | g.73212117T>G | CA262618869 | PSEN1 | c.1117+175T>G (n.1117+175T>G) c.1129+175T>G (n.1129+175T>G) n.1879+175T>G c.*84+175T>G (n.*84+175T>G) n.1555+175T>G c.1009+175T>G (n.1009+175T>G) c.*1073+175T>G (n.*1073+175T>G) n.6679+175T>G c.*1341+175T>G (n.*1341+175T>G) c.944-5009T>G (n.944-5009T>G) c.1172+132T>G (n.1172+132T>G) c.*791+175T>G (n.*791+175T>G) c.*687+175T>G (n.*687+175T>G) c.1030+175T>G (n.1030+175T>G) c.*1218+175T>G (n.*1218+175T>G) c.880+175T>G (n.880+175T>G) c.*1068+175T>G (n.*1068+175T>G) c.*909+175T>G (n.*909+175T>G) c.*569+175T>G (n.*569+175T>G) c.1156+175T>G (n.1156+175T>G) c.*597+175T>G (n.*597+175T>G) n.1527+175T>G n.2840+175T>G n.340+175T>G n.2128+175T>G n.1264+175T>G c.1018+175T>G (n.1018+175T>G) c.853+175T>G (n.853+175T>G) c.1221+175T>G (n.1221+175T>G) c.1209+175T>G (n.1209+175T>G) n.494+175T>G c.956-5009T>G (n.956-5009T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212117T= | CA2146495596 | PSEN1 | c.1117+175T= (n.1117+175T=) c.1129+175T= (n.1129+175T=) n.1879+175T= c.*84+175T= (n.*84+175T=) n.1555+175T= c.1009+175T= (n.1009+175T=) c.*1073+175T= (n.*1073+175T=) n.6679+175T= c.*1341+175T= (n.*1341+175T=) c.944-5009T= (n.944-5009T=) c.1172+132T= (n.1172+132T=) c.*791+175T= (n.*791+175T=) c.*687+175T= (n.*687+175T=) c.1030+175T= (n.1030+175T=) c.*1218+175T= (n.*1218+175T=) c.880+175T= (n.880+175T=) c.*1068+175T= (n.*1068+175T=) c.*909+175T= (n.*909+175T=) c.*569+175T= (n.*569+175T=) c.1156+175T= (n.1156+175T=) c.*597+175T= (n.*597+175T=) n.1527+175T= n.2840+175T= n.340+175T= n.2128+175T= n.1264+175T= c.1018+175T= (n.1018+175T=) c.853+175T= (n.853+175T=) c.1221+175T= (n.1221+175T=) c.1209+175T= (n.1209+175T=) n.494+175T= c.956-5009T= (n.956-5009T=) | |
14 | g.73212117_73212130del | CA964615049 | PSEN1 | c.1117+175_1117+188del (n.1117+175_1117+188del) c.1129+175_1129+188del (n.1129+175_1129+188del) n.1879+175_1879+188del c.*84+175_*84+188del (n.*84+175_*84+188del) n.1555+175_1555+188del c.1009+175_1009+188del (n.1009+175_1009+188del) c.*1073+175_*1073+188del (n.*1073+175_*1073+188del) n.6679+175_6679+188del c.*1341+175_*1341+188del (n.*1341+175_*1341+188del) c.944-5009_944-4996del (n.944-5009_944-4996del) c.1172+132_1172+145del (n.1172+132_1172+145del) c.*791+175_*791+188del (n.*791+175_*791+188del) c.*687+175_*687+188del (n.*687+175_*687+188del) c.1030+175_1030+188del (n.1030+175_1030+188del) c.*1218+175_*1218+188del (n.*1218+175_*1218+188del) c.880+175_880+188del (n.880+175_880+188del) c.*1068+175_*1068+188del (n.*1068+175_*1068+188del) c.*909+175_*909+188del (n.*909+175_*909+188del) c.*569+175_*569+188del (n.*569+175_*569+188del) c.1156+175_1156+188del (n.1156+175_1156+188del) c.*597+175_*597+188del (n.*597+175_*597+188del) n.1527+175_1527+188del n.2840+175_2840+188del n.340+175_340+188del n.2128+175_2128+188del n.1264+175_1264+188del c.1018+175_1018+188del (n.1018+175_1018+188del) c.853+175_853+188del (n.853+175_853+188del) c.1221+175_1221+188del (n.1221+175_1221+188del) c.1209+175_1209+188del (n.1209+175_1209+188del) n.494+175_494+188del c.956-5009_956-4996del (n.956-5009_956-4996del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212117_73212131del | CA964615054 | PSEN1 | c.1117+175_1117+189del (n.1117+175_1117+189del) c.1129+175_1129+189del (n.1129+175_1129+189del) n.1879+175_1879+189del c.*84+175_*84+189del (n.*84+175_*84+189del) n.1555+175_1555+189del c.1009+175_1009+189del (n.1009+175_1009+189del) c.*1073+175_*1073+189del (n.*1073+175_*1073+189del) n.6679+175_6679+189del c.*1341+175_*1341+189del (n.*1341+175_*1341+189del) c.944-5009_944-4995del (n.944-5009_944-4995del) c.1172+132_1172+146del (n.1172+132_1172+146del) c.*791+175_*791+189del (n.*791+175_*791+189del) c.*687+175_*687+189del (n.*687+175_*687+189del) c.1030+175_1030+189del (n.1030+175_1030+189del) c.*1218+175_*1218+189del (n.*1218+175_*1218+189del) c.880+175_880+189del (n.880+175_880+189del) c.*1068+175_*1068+189del (n.*1068+175_*1068+189del) c.*909+175_*909+189del (n.*909+175_*909+189del) c.*569+175_*569+189del (n.*569+175_*569+189del) c.1156+175_1156+189del (n.1156+175_1156+189del) c.*597+175_*597+189del (n.*597+175_*597+189del) n.1527+175_1527+189del n.2840+175_2840+189del n.340+175_340+189del n.2128+175_2128+189del n.1264+175_1264+189del c.1018+175_1018+189del (n.1018+175_1018+189del) c.853+175_853+189del (n.853+175_853+189del) c.1221+175_1221+189del (n.1221+175_1221+189del) c.1209+175_1209+189del (n.1209+175_1209+189del) n.494+175_494+189del c.956-5009_956-4995del (n.956-5009_956-4995del) | gnomAD v3 gnomAD v4 |
14 | g.73212117_73212132del | CA2802117624 | PSEN1 | c.1117+175_1117+190del (n.1117+175_1117+190del) c.1129+175_1129+190del (n.1129+175_1129+190del) n.1879+175_1879+190del c.*84+175_*84+190del (n.*84+175_*84+190del) n.1555+175_1555+190del c.1009+175_1009+190del (n.1009+175_1009+190del) c.*1073+175_*1073+190del (n.*1073+175_*1073+190del) n.6679+175_6679+190del c.*1341+175_*1341+190del (n.*1341+175_*1341+190del) c.944-5009_944-4994del (n.944-5009_944-4994del) c.1172+132_1172+147del (n.1172+132_1172+147del) c.*791+175_*791+190del (n.*791+175_*791+190del) c.*687+175_*687+190del (n.*687+175_*687+190del) c.1030+175_1030+190del (n.1030+175_1030+190del) c.*1218+175_*1218+190del (n.*1218+175_*1218+190del) c.880+175_880+190del (n.880+175_880+190del) c.*1068+175_*1068+190del (n.*1068+175_*1068+190del) c.*909+175_*909+190del (n.*909+175_*909+190del) c.*569+175_*569+190del (n.*569+175_*569+190del) c.1156+175_1156+190del (n.1156+175_1156+190del) c.*597+175_*597+190del (n.*597+175_*597+190del) n.1527+175_1527+190del n.2840+175_2840+190del n.340+175_340+190del n.2128+175_2128+190del n.1264+175_1264+190del c.1018+175_1018+190del (n.1018+175_1018+190del) c.853+175_853+190del (n.853+175_853+190del) c.1221+175_1221+190del (n.1221+175_1221+190del) c.1209+175_1209+190del (n.1209+175_1209+190del) n.494+175_494+190del c.956-5009_956-4994del (n.956-5009_956-4994del) | |
14 | g.73212117_73212118insAAAAA | CA2595750860 | PSEN1 | c.1117+175_1117+176insAAAAA (n.1117+175_1117+176insAAAAA) c.1129+175_1129+176insAAAAA (n.1129+175_1129+176insAAAAA) n.1879+175_1879+176insAAAAA c.*84+175_*84+176insAAAAA (n.*84+175_*84+176insAAAAA) n.1555+175_1555+176insAAAAA c.1009+175_1009+176insAAAAA (n.1009+175_1009+176insAAAAA) c.*1073+175_*1073+176insAAAAA (n.*1073+175_*1073+176insAAAAA) n.6679+175_6679+176insAAAAA c.*1341+175_*1341+176insAAAAA (n.*1341+175_*1341+176insAAAAA) c.944-5009_944-5008insAAAAA (n.944-5009_944-5008insAAAAA) c.1172+132_1172+133insAAAAA (n.1172+132_1172+133insAAAAA) c.*791+175_*791+176insAAAAA (n.*791+175_*791+176insAAAAA) c.*687+175_*687+176insAAAAA (n.*687+175_*687+176insAAAAA) c.1030+175_1030+176insAAAAA (n.1030+175_1030+176insAAAAA) c.*1218+175_*1218+176insAAAAA (n.*1218+175_*1218+176insAAAAA) c.880+175_880+176insAAAAA (n.880+175_880+176insAAAAA) c.*1068+175_*1068+176insAAAAA (n.*1068+175_*1068+176insAAAAA) c.*909+175_*909+176insAAAAA (n.*909+175_*909+176insAAAAA) c.*569+175_*569+176insAAAAA (n.*569+175_*569+176insAAAAA) c.1156+175_1156+176insAAAAA (n.1156+175_1156+176insAAAAA) c.*597+175_*597+176insAAAAA (n.*597+175_*597+176insAAAAA) n.1527+175_1527+176insAAAAA n.2840+175_2840+176insAAAAA n.340+175_340+176insAAAAA n.2128+175_2128+176insAAAAA n.1264+175_1264+176insAAAAA c.1018+175_1018+176insAAAAA (n.1018+175_1018+176insAAAAA) c.853+175_853+176insAAAAA (n.853+175_853+176insAAAAA) c.1221+175_1221+176insAAAAA (n.1221+175_1221+176insAAAAA) c.1209+175_1209+176insAAAAA (n.1209+175_1209+176insAAAAA) n.494+175_494+176insAAAAA c.956-5009_956-5008insAAAAA (n.956-5009_956-5008insAAAAA) | gnomAD v3 gnomAD v4 |
14 | g.73212117_73212118insAAAAAA | CA2802117629 | PSEN1 | c.1117+175_1117+176insAAAAAA (n.1117+175_1117+176insAAAAAA) c.1129+175_1129+176insAAAAAA (n.1129+175_1129+176insAAAAAA) n.1879+175_1879+176insAAAAAA c.*84+175_*84+176insAAAAAA (n.*84+175_*84+176insAAAAAA) n.1555+175_1555+176insAAAAAA c.1009+175_1009+176insAAAAAA (n.1009+175_1009+176insAAAAAA) c.*1073+175_*1073+176insAAAAAA (n.*1073+175_*1073+176insAAAAAA) n.6679+175_6679+176insAAAAAA c.*1341+175_*1341+176insAAAAAA (n.*1341+175_*1341+176insAAAAAA) c.944-5009_944-5008insAAAAAA (n.944-5009_944-5008insAAAAAA) c.1172+132_1172+133insAAAAAA (n.1172+132_1172+133insAAAAAA) c.*791+175_*791+176insAAAAAA (n.*791+175_*791+176insAAAAAA) c.*687+175_*687+176insAAAAAA (n.*687+175_*687+176insAAAAAA) c.1030+175_1030+176insAAAAAA (n.1030+175_1030+176insAAAAAA) c.*1218+175_*1218+176insAAAAAA (n.*1218+175_*1218+176insAAAAAA) c.880+175_880+176insAAAAAA (n.880+175_880+176insAAAAAA) c.*1068+175_*1068+176insAAAAAA (n.*1068+175_*1068+176insAAAAAA) c.*909+175_*909+176insAAAAAA (n.*909+175_*909+176insAAAAAA) c.*569+175_*569+176insAAAAAA (n.*569+175_*569+176insAAAAAA) c.1156+175_1156+176insAAAAAA (n.1156+175_1156+176insAAAAAA) c.*597+175_*597+176insAAAAAA (n.*597+175_*597+176insAAAAAA) n.1527+175_1527+176insAAAAAA n.2840+175_2840+176insAAAAAA n.340+175_340+176insAAAAAA n.2128+175_2128+176insAAAAAA n.1264+175_1264+176insAAAAAA c.1018+175_1018+176insAAAAAA (n.1018+175_1018+176insAAAAAA) c.853+175_853+176insAAAAAA (n.853+175_853+176insAAAAAA) c.1221+175_1221+176insAAAAAA (n.1221+175_1221+176insAAAAAA) c.1209+175_1209+176insAAAAAA (n.1209+175_1209+176insAAAAAA) n.494+175_494+176insAAAAAA c.956-5009_956-5008insAAAAAA (n.956-5009_956-5008insAAAAAA) | |
14 | g.73212118T>C | CA2595750862 | PSEN1 | c.1117+176T>C (n.1117+176T>C) c.1129+176T>C (n.1129+176T>C) n.1879+176T>C c.*84+176T>C (n.*84+176T>C) n.1555+176T>C c.1009+176T>C (n.1009+176T>C) c.*1073+176T>C (n.*1073+176T>C) n.6679+176T>C c.*1341+176T>C (n.*1341+176T>C) c.944-5008T>C (n.944-5008T>C) c.1172+133T>C (n.1172+133T>C) c.*791+176T>C (n.*791+176T>C) c.*687+176T>C (n.*687+176T>C) c.1030+176T>C (n.1030+176T>C) c.*1218+176T>C (n.*1218+176T>C) c.880+176T>C (n.880+176T>C) c.*1068+176T>C (n.*1068+176T>C) c.*909+176T>C (n.*909+176T>C) c.*569+176T>C (n.*569+176T>C) c.1156+176T>C (n.1156+176T>C) c.*597+176T>C (n.*597+176T>C) n.1527+176T>C n.2840+176T>C n.340+176T>C n.2128+176T>C n.1264+176T>C c.1018+176T>C (n.1018+176T>C) c.853+176T>C (n.853+176T>C) c.1221+176T>C (n.1221+176T>C) c.1209+176T>C (n.1209+176T>C) n.494+176T>C c.956-5008T>C (n.956-5008T>C) | gnomAD v3 gnomAD v4 |
14 | g.73212118_73212130del | CA2595750861 | PSEN1 | c.1117+176_1117+188del (n.1117+176_1117+188del) c.1129+176_1129+188del (n.1129+176_1129+188del) n.1879+176_1879+188del c.*84+176_*84+188del (n.*84+176_*84+188del) n.1555+176_1555+188del c.1009+176_1009+188del (n.1009+176_1009+188del) c.*1073+176_*1073+188del (n.*1073+176_*1073+188del) n.6679+176_6679+188del c.*1341+176_*1341+188del (n.*1341+176_*1341+188del) c.944-5008_944-4996del (n.944-5008_944-4996del) c.1172+133_1172+145del (n.1172+133_1172+145del) c.*791+176_*791+188del (n.*791+176_*791+188del) c.*687+176_*687+188del (n.*687+176_*687+188del) c.1030+176_1030+188del (n.1030+176_1030+188del) c.*1218+176_*1218+188del (n.*1218+176_*1218+188del) c.880+176_880+188del (n.880+176_880+188del) c.*1068+176_*1068+188del (n.*1068+176_*1068+188del) c.*909+176_*909+188del (n.*909+176_*909+188del) c.*569+176_*569+188del (n.*569+176_*569+188del) c.1156+176_1156+188del (n.1156+176_1156+188del) c.*597+176_*597+188del (n.*597+176_*597+188del) n.1527+176_1527+188del n.2840+176_2840+188del n.340+176_340+188del n.2128+176_2128+188del n.1264+176_1264+188del c.1018+176_1018+188del (n.1018+176_1018+188del) c.853+176_853+188del (n.853+176_853+188del) c.1221+176_1221+188del (n.1221+176_1221+188del) c.1209+176_1209+188del (n.1209+176_1209+188del) n.494+176_494+188del c.956-5008_956-4996del (n.956-5008_956-4996del) | gnomAD v3 gnomAD v4 |
14 | g.73212118_73212131del | CA964615063 | PSEN1 | c.1117+176_1117+189del (n.1117+176_1117+189del) c.1129+176_1129+189del (n.1129+176_1129+189del) n.1879+176_1879+189del c.*84+176_*84+189del (n.*84+176_*84+189del) n.1555+176_1555+189del c.1009+176_1009+189del (n.1009+176_1009+189del) c.*1073+176_*1073+189del (n.*1073+176_*1073+189del) n.6679+176_6679+189del c.*1341+176_*1341+189del (n.*1341+176_*1341+189del) c.944-5008_944-4995del (n.944-5008_944-4995del) c.1172+133_1172+146del (n.1172+133_1172+146del) c.*791+176_*791+189del (n.*791+176_*791+189del) c.*687+176_*687+189del (n.*687+176_*687+189del) c.1030+176_1030+189del (n.1030+176_1030+189del) c.*1218+176_*1218+189del (n.*1218+176_*1218+189del) c.880+176_880+189del (n.880+176_880+189del) c.*1068+176_*1068+189del (n.*1068+176_*1068+189del) c.*909+176_*909+189del (n.*909+176_*909+189del) c.*569+176_*569+189del (n.*569+176_*569+189del) c.1156+176_1156+189del (n.1156+176_1156+189del) c.*597+176_*597+189del (n.*597+176_*597+189del) n.1527+176_1527+189del n.2840+176_2840+189del n.340+176_340+189del n.2128+176_2128+189del n.1264+176_1264+189del c.1018+176_1018+189del (n.1018+176_1018+189del) c.853+176_853+189del (n.853+176_853+189del) c.1221+176_1221+189del (n.1221+176_1221+189del) c.1209+176_1209+189del (n.1209+176_1209+189del) n.494+176_494+189del c.956-5008_956-4995del (n.956-5008_956-4995del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212118_73212132del | CA2802117631 | PSEN1 | c.1117+176_1117+190del (n.1117+176_1117+190del) c.1129+176_1129+190del (n.1129+176_1129+190del) n.1879+176_1879+190del c.*84+176_*84+190del (n.*84+176_*84+190del) n.1555+176_1555+190del c.1009+176_1009+190del (n.1009+176_1009+190del) c.*1073+176_*1073+190del (n.*1073+176_*1073+190del) n.6679+176_6679+190del c.*1341+176_*1341+190del (n.*1341+176_*1341+190del) c.944-5008_944-4994del (n.944-5008_944-4994del) c.1172+133_1172+147del (n.1172+133_1172+147del) c.*791+176_*791+190del (n.*791+176_*791+190del) c.*687+176_*687+190del (n.*687+176_*687+190del) c.1030+176_1030+190del (n.1030+176_1030+190del) c.*1218+176_*1218+190del (n.*1218+176_*1218+190del) c.880+176_880+190del (n.880+176_880+190del) c.*1068+176_*1068+190del (n.*1068+176_*1068+190del) c.*909+176_*909+190del (n.*909+176_*909+190del) c.*569+176_*569+190del (n.*569+176_*569+190del) c.1156+176_1156+190del (n.1156+176_1156+190del) c.*597+176_*597+190del (n.*597+176_*597+190del) n.1527+176_1527+190del n.2840+176_2840+190del n.340+176_340+190del n.2128+176_2128+190del n.1264+176_1264+190del c.1018+176_1018+190del (n.1018+176_1018+190del) c.853+176_853+190del (n.853+176_853+190del) c.1221+176_1221+190del (n.1221+176_1221+190del) c.1209+176_1209+190del (n.1209+176_1209+190del) n.494+176_494+190del c.956-5008_956-4994del (n.956-5008_956-4994del) | |
14 | g.73212118_73212133del | CA2513517464 | PSEN1 | c.1117+176_1117+191del (n.1117+176_1117+191del) c.1129+176_1129+191del (n.1129+176_1129+191del) n.1879+176_1879+191del c.*84+176_*84+191del (n.*84+176_*84+191del) n.1555+176_1555+191del c.1009+176_1009+191del (n.1009+176_1009+191del) c.*1073+176_*1073+191del (n.*1073+176_*1073+191del) n.6679+176_6679+191del c.*1341+176_*1341+191del (n.*1341+176_*1341+191del) c.944-5008_944-4993del (n.944-5008_944-4993del) c.1172+133_1172+148del (n.1172+133_1172+148del) c.*791+176_*791+191del (n.*791+176_*791+191del) c.*687+176_*687+191del (n.*687+176_*687+191del) c.1030+176_1030+191del (n.1030+176_1030+191del) c.*1218+176_*1218+191del (n.*1218+176_*1218+191del) c.880+176_880+191del (n.880+176_880+191del) c.*1068+176_*1068+191del (n.*1068+176_*1068+191del) c.*909+176_*909+191del (n.*909+176_*909+191del) c.*569+176_*569+191del (n.*569+176_*569+191del) c.1156+176_1156+191del (n.1156+176_1156+191del) c.*597+176_*597+191del (n.*597+176_*597+191del) n.1527+176_1527+191del n.2840+176_2840+191del n.340+176_340+191del n.2128+176_2128+191del n.1264+176_1264+191del c.1018+176_1018+191del (n.1018+176_1018+191del) c.853+176_853+191del (n.853+176_853+191del) c.1221+176_1221+191del (n.1221+176_1221+191del) c.1209+176_1209+191del (n.1209+176_1209+191del) n.494+176_494+191del c.956-5008_956-4993del (n.956-5008_956-4993del) | |
14 | g.73212118_73212119insAAAG | CA2595750863 | PSEN1 | c.1117+176_1117+177insAAAG (n.1117+176_1117+177insAAAG) c.1129+176_1129+177insAAAG (n.1129+176_1129+177insAAAG) n.1879+176_1879+177insAAAG c.*84+176_*84+177insAAAG (n.*84+176_*84+177insAAAG) n.1555+176_1555+177insAAAG c.1009+176_1009+177insAAAG (n.1009+176_1009+177insAAAG) c.*1073+176_*1073+177insAAAG (n.*1073+176_*1073+177insAAAG) n.6679+176_6679+177insAAAG c.*1341+176_*1341+177insAAAG (n.*1341+176_*1341+177insAAAG) c.944-5008_944-5007insAAAG (n.944-5008_944-5007insAAAG) c.1172+133_1172+134insAAAG (n.1172+133_1172+134insAAAG) c.*791+176_*791+177insAAAG (n.*791+176_*791+177insAAAG) c.*687+176_*687+177insAAAG (n.*687+176_*687+177insAAAG) c.1030+176_1030+177insAAAG (n.1030+176_1030+177insAAAG) c.*1218+176_*1218+177insAAAG (n.*1218+176_*1218+177insAAAG) c.880+176_880+177insAAAG (n.880+176_880+177insAAAG) c.*1068+176_*1068+177insAAAG (n.*1068+176_*1068+177insAAAG) c.*909+176_*909+177insAAAG (n.*909+176_*909+177insAAAG) c.*569+176_*569+177insAAAG (n.*569+176_*569+177insAAAG) c.1156+176_1156+177insAAAG (n.1156+176_1156+177insAAAG) c.*597+176_*597+177insAAAG (n.*597+176_*597+177insAAAG) n.1527+176_1527+177insAAAG n.2840+176_2840+177insAAAG n.340+176_340+177insAAAG n.2128+176_2128+177insAAAG n.1264+176_1264+177insAAAG c.1018+176_1018+177insAAAG (n.1018+176_1018+177insAAAG) c.853+176_853+177insAAAG (n.853+176_853+177insAAAG) c.1221+176_1221+177insAAAG (n.1221+176_1221+177insAAAG) c.1209+176_1209+177insAAAG (n.1209+176_1209+177insAAAG) n.494+176_494+177insAAAG c.956-5008_956-5007insAAAG (n.956-5008_956-5007insAAAG) | gnomAD v3 gnomAD v4 |
14 | g.73212119_73212130del | CA2595750864 | PSEN1 | c.1117+177_1117+188del (n.1117+177_1117+188del) c.1129+177_1129+188del (n.1129+177_1129+188del) n.1879+177_1879+188del c.*84+177_*84+188del (n.*84+177_*84+188del) n.1555+177_1555+188del c.1009+177_1009+188del (n.1009+177_1009+188del) c.*1073+177_*1073+188del (n.*1073+177_*1073+188del) n.6679+177_6679+188del c.*1341+177_*1341+188del (n.*1341+177_*1341+188del) c.944-5007_944-4996del (n.944-5007_944-4996del) c.1172+134_1172+145del (n.1172+134_1172+145del) c.*791+177_*791+188del (n.*791+177_*791+188del) c.*687+177_*687+188del (n.*687+177_*687+188del) c.1030+177_1030+188del (n.1030+177_1030+188del) c.*1218+177_*1218+188del (n.*1218+177_*1218+188del) c.880+177_880+188del (n.880+177_880+188del) c.*1068+177_*1068+188del (n.*1068+177_*1068+188del) c.*909+177_*909+188del (n.*909+177_*909+188del) c.*569+177_*569+188del (n.*569+177_*569+188del) c.1156+177_1156+188del (n.1156+177_1156+188del) c.*597+177_*597+188del (n.*597+177_*597+188del) n.1527+177_1527+188del n.2840+177_2840+188del n.340+177_340+188del n.2128+177_2128+188del n.1264+177_1264+188del c.1018+177_1018+188del (n.1018+177_1018+188del) c.853+177_853+188del (n.853+177_853+188del) c.1221+177_1221+188del (n.1221+177_1221+188del) c.1209+177_1209+188del (n.1209+177_1209+188del) n.494+177_494+188del c.956-5007_956-4996del (n.956-5007_956-4996del) | gnomAD v3 gnomAD v4 |
14 | g.73212119_73212131del | CA2802117633 | PSEN1 | c.1117+177_1117+189del (n.1117+177_1117+189del) c.1129+177_1129+189del (n.1129+177_1129+189del) n.1879+177_1879+189del c.*84+177_*84+189del (n.*84+177_*84+189del) n.1555+177_1555+189del c.1009+177_1009+189del (n.1009+177_1009+189del) c.*1073+177_*1073+189del (n.*1073+177_*1073+189del) n.6679+177_6679+189del c.*1341+177_*1341+189del (n.*1341+177_*1341+189del) c.944-5007_944-4995del (n.944-5007_944-4995del) c.1172+134_1172+146del (n.1172+134_1172+146del) c.*791+177_*791+189del (n.*791+177_*791+189del) c.*687+177_*687+189del (n.*687+177_*687+189del) c.1030+177_1030+189del (n.1030+177_1030+189del) c.*1218+177_*1218+189del (n.*1218+177_*1218+189del) c.880+177_880+189del (n.880+177_880+189del) c.*1068+177_*1068+189del (n.*1068+177_*1068+189del) c.*909+177_*909+189del (n.*909+177_*909+189del) c.*569+177_*569+189del (n.*569+177_*569+189del) c.1156+177_1156+189del (n.1156+177_1156+189del) c.*597+177_*597+189del (n.*597+177_*597+189del) n.1527+177_1527+189del n.2840+177_2840+189del n.340+177_340+189del n.2128+177_2128+189del n.1264+177_1264+189del c.1018+177_1018+189del (n.1018+177_1018+189del) c.853+177_853+189del (n.853+177_853+189del) c.1221+177_1221+189del (n.1221+177_1221+189del) c.1209+177_1209+189del (n.1209+177_1209+189del) n.494+177_494+189del c.956-5007_956-4995del (n.956-5007_956-4995del) | |
14 | g.73212119_73212132del | CA964615066 | PSEN1 | c.1117+177_1117+190del (n.1117+177_1117+190del) c.1129+177_1129+190del (n.1129+177_1129+190del) n.1879+177_1879+190del c.*84+177_*84+190del (n.*84+177_*84+190del) n.1555+177_1555+190del c.1009+177_1009+190del (n.1009+177_1009+190del) c.*1073+177_*1073+190del (n.*1073+177_*1073+190del) n.6679+177_6679+190del c.*1341+177_*1341+190del (n.*1341+177_*1341+190del) c.944-5007_944-4994del (n.944-5007_944-4994del) c.1172+134_1172+147del (n.1172+134_1172+147del) c.*791+177_*791+190del (n.*791+177_*791+190del) c.*687+177_*687+190del (n.*687+177_*687+190del) c.1030+177_1030+190del (n.1030+177_1030+190del) c.*1218+177_*1218+190del (n.*1218+177_*1218+190del) c.880+177_880+190del (n.880+177_880+190del) c.*1068+177_*1068+190del (n.*1068+177_*1068+190del) c.*909+177_*909+190del (n.*909+177_*909+190del) c.*569+177_*569+190del (n.*569+177_*569+190del) c.1156+177_1156+190del (n.1156+177_1156+190del) c.*597+177_*597+190del (n.*597+177_*597+190del) n.1527+177_1527+190del n.2840+177_2840+190del n.340+177_340+190del n.2128+177_2128+190del n.1264+177_1264+190del c.1018+177_1018+190del (n.1018+177_1018+190del) c.853+177_853+190del (n.853+177_853+190del) c.1221+177_1221+190del (n.1221+177_1221+190del) c.1209+177_1209+190del (n.1209+177_1209+190del) n.494+177_494+190del c.956-5007_956-4994del (n.956-5007_956-4994del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212119_73212120insAAGAG | CA2595750865 | PSEN1 | c.1117+177_1117+178insAAGAG (n.1117+177_1117+178insAAGAG) c.1129+177_1129+178insAAGAG (n.1129+177_1129+178insAAGAG) n.1879+177_1879+178insAAGAG c.*84+177_*84+178insAAGAG (n.*84+177_*84+178insAAGAG) n.1555+177_1555+178insAAGAG c.1009+177_1009+178insAAGAG (n.1009+177_1009+178insAAGAG) c.*1073+177_*1073+178insAAGAG (n.*1073+177_*1073+178insAAGAG) n.6679+177_6679+178insAAGAG c.*1341+177_*1341+178insAAGAG (n.*1341+177_*1341+178insAAGAG) c.944-5007_944-5006insAAGAG (n.944-5007_944-5006insAAGAG) c.1172+134_1172+135insAAGAG (n.1172+134_1172+135insAAGAG) c.*791+177_*791+178insAAGAG (n.*791+177_*791+178insAAGAG) c.*687+177_*687+178insAAGAG (n.*687+177_*687+178insAAGAG) c.1030+177_1030+178insAAGAG (n.1030+177_1030+178insAAGAG) c.*1218+177_*1218+178insAAGAG (n.*1218+177_*1218+178insAAGAG) c.880+177_880+178insAAGAG (n.880+177_880+178insAAGAG) c.*1068+177_*1068+178insAAGAG (n.*1068+177_*1068+178insAAGAG) c.*909+177_*909+178insAAGAG (n.*909+177_*909+178insAAGAG) c.*569+177_*569+178insAAGAG (n.*569+177_*569+178insAAGAG) c.1156+177_1156+178insAAGAG (n.1156+177_1156+178insAAGAG) c.*597+177_*597+178insAAGAG (n.*597+177_*597+178insAAGAG) n.1527+177_1527+178insAAGAG n.2840+177_2840+178insAAGAG n.340+177_340+178insAAGAG n.2128+177_2128+178insAAGAG n.1264+177_1264+178insAAGAG c.1018+177_1018+178insAAGAG (n.1018+177_1018+178insAAGAG) c.853+177_853+178insAAGAG (n.853+177_853+178insAAGAG) c.1221+177_1221+178insAAGAG (n.1221+177_1221+178insAAGAG) c.1209+177_1209+178insAAGAG (n.1209+177_1209+178insAAGAG) n.494+177_494+178insAAGAG c.956-5007_956-5006insAAGAG (n.956-5007_956-5006insAAGAG) | gnomAD v3 gnomAD v4 |
14 | g.73212120T>C | CA2546494013 | PSEN1 | c.1117+178T>C (n.1117+178T>C) c.1129+178T>C (n.1129+178T>C) n.1879+178T>C c.*84+178T>C (n.*84+178T>C) n.1555+178T>C c.1009+178T>C (n.1009+178T>C) c.*1073+178T>C (n.*1073+178T>C) n.6679+178T>C c.*1341+178T>C (n.*1341+178T>C) c.944-5006T>C (n.944-5006T>C) c.1172+135T>C (n.1172+135T>C) c.*791+178T>C (n.*791+178T>C) c.*687+178T>C (n.*687+178T>C) c.1030+178T>C (n.1030+178T>C) c.*1218+178T>C (n.*1218+178T>C) c.880+178T>C (n.880+178T>C) c.*1068+178T>C (n.*1068+178T>C) c.*909+178T>C (n.*909+178T>C) c.*569+178T>C (n.*569+178T>C) c.1156+178T>C (n.1156+178T>C) c.*597+178T>C (n.*597+178T>C) n.1527+178T>C n.2840+178T>C n.340+178T>C n.2128+178T>C n.1264+178T>C c.1018+178T>C (n.1018+178T>C) c.853+178T>C (n.853+178T>C) c.1221+178T>C (n.1221+178T>C) c.1209+178T>C (n.1209+178T>C) n.494+178T>C c.956-5006T>C (n.956-5006T>C) | |
14 | g.73212120_73212131del | CA2595750866 | PSEN1 | c.1117+178_1117+189del (n.1117+178_1117+189del) c.1129+178_1129+189del (n.1129+178_1129+189del) n.1879+178_1879+189del c.*84+178_*84+189del (n.*84+178_*84+189del) n.1555+178_1555+189del c.1009+178_1009+189del (n.1009+178_1009+189del) c.*1073+178_*1073+189del (n.*1073+178_*1073+189del) n.6679+178_6679+189del c.*1341+178_*1341+189del (n.*1341+178_*1341+189del) c.944-5006_944-4995del (n.944-5006_944-4995del) c.1172+135_1172+146del (n.1172+135_1172+146del) c.*791+178_*791+189del (n.*791+178_*791+189del) c.*687+178_*687+189del (n.*687+178_*687+189del) c.1030+178_1030+189del (n.1030+178_1030+189del) c.*1218+178_*1218+189del (n.*1218+178_*1218+189del) c.880+178_880+189del (n.880+178_880+189del) c.*1068+178_*1068+189del (n.*1068+178_*1068+189del) c.*909+178_*909+189del (n.*909+178_*909+189del) c.*569+178_*569+189del (n.*569+178_*569+189del) c.1156+178_1156+189del (n.1156+178_1156+189del) c.*597+178_*597+189del (n.*597+178_*597+189del) n.1527+178_1527+189del n.2840+178_2840+189del n.340+178_340+189del n.2128+178_2128+189del n.1264+178_1264+189del c.1018+178_1018+189del (n.1018+178_1018+189del) c.853+178_853+189del (n.853+178_853+189del) c.1221+178_1221+189del (n.1221+178_1221+189del) c.1209+178_1209+189del (n.1209+178_1209+189del) n.494+178_494+189del c.956-5006_956-4995del (n.956-5006_956-4995del) | gnomAD v3 gnomAD v4 |
14 | g.73212120_73212132del | CA2595750867 | PSEN1 | c.1117+178_1117+190del (n.1117+178_1117+190del) c.1129+178_1129+190del (n.1129+178_1129+190del) n.1879+178_1879+190del c.*84+178_*84+190del (n.*84+178_*84+190del) n.1555+178_1555+190del c.1009+178_1009+190del (n.1009+178_1009+190del) c.*1073+178_*1073+190del (n.*1073+178_*1073+190del) n.6679+178_6679+190del c.*1341+178_*1341+190del (n.*1341+178_*1341+190del) c.944-5006_944-4994del (n.944-5006_944-4994del) c.1172+135_1172+147del (n.1172+135_1172+147del) c.*791+178_*791+190del (n.*791+178_*791+190del) c.*687+178_*687+190del (n.*687+178_*687+190del) c.1030+178_1030+190del (n.1030+178_1030+190del) c.*1218+178_*1218+190del (n.*1218+178_*1218+190del) c.880+178_880+190del (n.880+178_880+190del) c.*1068+178_*1068+190del (n.*1068+178_*1068+190del) c.*909+178_*909+190del (n.*909+178_*909+190del) c.*569+178_*569+190del (n.*569+178_*569+190del) c.1156+178_1156+190del (n.1156+178_1156+190del) c.*597+178_*597+190del (n.*597+178_*597+190del) n.1527+178_1527+190del n.2840+178_2840+190del n.340+178_340+190del n.2128+178_2128+190del n.1264+178_1264+190del c.1018+178_1018+190del (n.1018+178_1018+190del) c.853+178_853+190del (n.853+178_853+190del) c.1221+178_1221+190del (n.1221+178_1221+190del) c.1209+178_1209+190del (n.1209+178_1209+190del) n.494+178_494+190del c.956-5006_956-4994del (n.956-5006_956-4994del) | gnomAD v3 gnomAD v4 |
14 | g.73212121T>C | CA262618872 | PSEN1 | c.1117+179T>C (n.1117+179T>C) c.1129+179T>C (n.1129+179T>C) n.1879+179T>C c.*84+179T>C (n.*84+179T>C) n.1555+179T>C c.1009+179T>C (n.1009+179T>C) c.*1073+179T>C (n.*1073+179T>C) n.6679+179T>C c.*1341+179T>C (n.*1341+179T>C) c.944-5005T>C (n.944-5005T>C) c.1172+136T>C (n.1172+136T>C) c.*791+179T>C (n.*791+179T>C) c.*687+179T>C (n.*687+179T>C) c.1030+179T>C (n.1030+179T>C) c.*1218+179T>C (n.*1218+179T>C) c.880+179T>C (n.880+179T>C) c.*1068+179T>C (n.*1068+179T>C) c.*909+179T>C (n.*909+179T>C) c.*569+179T>C (n.*569+179T>C) c.1156+179T>C (n.1156+179T>C) c.*597+179T>C (n.*597+179T>C) n.1527+179T>C n.2840+179T>C n.340+179T>C n.2128+179T>C n.1264+179T>C c.1018+179T>C (n.1018+179T>C) c.853+179T>C (n.853+179T>C) c.1221+179T>C (n.1221+179T>C) c.1209+179T>C (n.1209+179T>C) n.494+179T>C c.956-5005T>C (n.956-5005T>C) | dbSNP |
14 | g.73212121T= | CA2146495598 | PSEN1 | c.1117+179T= (n.1117+179T=) c.1129+179T= (n.1129+179T=) n.1879+179T= c.*84+179T= (n.*84+179T=) n.1555+179T= c.1009+179T= (n.1009+179T=) c.*1073+179T= (n.*1073+179T=) n.6679+179T= c.*1341+179T= (n.*1341+179T=) c.944-5005T= (n.944-5005T=) c.1172+136T= (n.1172+136T=) c.*791+179T= (n.*791+179T=) c.*687+179T= (n.*687+179T=) c.1030+179T= (n.1030+179T=) c.*1218+179T= (n.*1218+179T=) c.880+179T= (n.880+179T=) c.*1068+179T= (n.*1068+179T=) c.*909+179T= (n.*909+179T=) c.*569+179T= (n.*569+179T=) c.1156+179T= (n.1156+179T=) c.*597+179T= (n.*597+179T=) n.1527+179T= n.2840+179T= n.340+179T= n.2128+179T= n.1264+179T= c.1018+179T= (n.1018+179T=) c.853+179T= (n.853+179T=) c.1221+179T= (n.1221+179T=) c.1209+179T= (n.1209+179T=) n.494+179T= c.956-5005T= (n.956-5005T=) | |
14 | g.73212121_73212130del | CA2802117634 | PSEN1 | c.1117+179_1117+188del (n.1117+179_1117+188del) c.1129+179_1129+188del (n.1129+179_1129+188del) n.1879+179_1879+188del c.*84+179_*84+188del (n.*84+179_*84+188del) n.1555+179_1555+188del c.1009+179_1009+188del (n.1009+179_1009+188del) c.*1073+179_*1073+188del (n.*1073+179_*1073+188del) n.6679+179_6679+188del c.*1341+179_*1341+188del (n.*1341+179_*1341+188del) c.944-5005_944-4996del (n.944-5005_944-4996del) c.1172+136_1172+145del (n.1172+136_1172+145del) c.*791+179_*791+188del (n.*791+179_*791+188del) c.*687+179_*687+188del (n.*687+179_*687+188del) c.1030+179_1030+188del (n.1030+179_1030+188del) c.*1218+179_*1218+188del (n.*1218+179_*1218+188del) c.880+179_880+188del (n.880+179_880+188del) c.*1068+179_*1068+188del (n.*1068+179_*1068+188del) c.*909+179_*909+188del (n.*909+179_*909+188del) c.*569+179_*569+188del (n.*569+179_*569+188del) c.1156+179_1156+188del (n.1156+179_1156+188del) c.*597+179_*597+188del (n.*597+179_*597+188del) n.1527+179_1527+188del n.2840+179_2840+188del n.340+179_340+188del n.2128+179_2128+188del n.1264+179_1264+188del c.1018+179_1018+188del (n.1018+179_1018+188del) c.853+179_853+188del (n.853+179_853+188del) c.1221+179_1221+188del (n.1221+179_1221+188del) c.1209+179_1209+188del (n.1209+179_1209+188del) n.494+179_494+188del c.956-5005_956-4996del (n.956-5005_956-4996del) | |
14 | g.73212121_73212131del | CA2802117635 | PSEN1 | c.1117+179_1117+189del (n.1117+179_1117+189del) c.1129+179_1129+189del (n.1129+179_1129+189del) n.1879+179_1879+189del c.*84+179_*84+189del (n.*84+179_*84+189del) n.1555+179_1555+189del c.1009+179_1009+189del (n.1009+179_1009+189del) c.*1073+179_*1073+189del (n.*1073+179_*1073+189del) n.6679+179_6679+189del c.*1341+179_*1341+189del (n.*1341+179_*1341+189del) c.944-5005_944-4995del (n.944-5005_944-4995del) c.1172+136_1172+146del (n.1172+136_1172+146del) c.*791+179_*791+189del (n.*791+179_*791+189del) c.*687+179_*687+189del (n.*687+179_*687+189del) c.1030+179_1030+189del (n.1030+179_1030+189del) c.*1218+179_*1218+189del (n.*1218+179_*1218+189del) c.880+179_880+189del (n.880+179_880+189del) c.*1068+179_*1068+189del (n.*1068+179_*1068+189del) c.*909+179_*909+189del (n.*909+179_*909+189del) c.*569+179_*569+189del (n.*569+179_*569+189del) c.1156+179_1156+189del (n.1156+179_1156+189del) c.*597+179_*597+189del (n.*597+179_*597+189del) n.1527+179_1527+189del n.2840+179_2840+189del n.340+179_340+189del n.2128+179_2128+189del n.1264+179_1264+189del c.1018+179_1018+189del (n.1018+179_1018+189del) c.853+179_853+189del (n.853+179_853+189del) c.1221+179_1221+189del (n.1221+179_1221+189del) c.1209+179_1209+189del (n.1209+179_1209+189del) n.494+179_494+189del c.956-5005_956-4995del (n.956-5005_956-4995del) | |
14 | g.73212121_73212122insATAAAG | CA2802117638 | PSEN1 | c.1117+179_1117+180insATAAAG (n.1117+179_1117+180insATAAAG) c.1129+179_1129+180insATAAAG (n.1129+179_1129+180insATAAAG) n.1879+179_1879+180insATAAAG c.*84+179_*84+180insATAAAG (n.*84+179_*84+180insATAAAG) n.1555+179_1555+180insATAAAG c.1009+179_1009+180insATAAAG (n.1009+179_1009+180insATAAAG) c.*1073+179_*1073+180insATAAAG (n.*1073+179_*1073+180insATAAAG) n.6679+179_6679+180insATAAAG c.*1341+179_*1341+180insATAAAG (n.*1341+179_*1341+180insATAAAG) c.944-5005_944-5004insATAAAG (n.944-5005_944-5004insATAAAG) c.1172+136_1172+137insATAAAG (n.1172+136_1172+137insATAAAG) c.*791+179_*791+180insATAAAG (n.*791+179_*791+180insATAAAG) c.*687+179_*687+180insATAAAG (n.*687+179_*687+180insATAAAG) c.1030+179_1030+180insATAAAG (n.1030+179_1030+180insATAAAG) c.*1218+179_*1218+180insATAAAG (n.*1218+179_*1218+180insATAAAG) c.880+179_880+180insATAAAG (n.880+179_880+180insATAAAG) c.*1068+179_*1068+180insATAAAG (n.*1068+179_*1068+180insATAAAG) c.*909+179_*909+180insATAAAG (n.*909+179_*909+180insATAAAG) c.*569+179_*569+180insATAAAG (n.*569+179_*569+180insATAAAG) c.1156+179_1156+180insATAAAG (n.1156+179_1156+180insATAAAG) c.*597+179_*597+180insATAAAG (n.*597+179_*597+180insATAAAG) n.1527+179_1527+180insATAAAG n.2840+179_2840+180insATAAAG n.340+179_340+180insATAAAG n.2128+179_2128+180insATAAAG n.1264+179_1264+180insATAAAG c.1018+179_1018+180insATAAAG (n.1018+179_1018+180insATAAAG) c.853+179_853+180insATAAAG (n.853+179_853+180insATAAAG) c.1221+179_1221+180insATAAAG (n.1221+179_1221+180insATAAAG) c.1209+179_1209+180insATAAAG (n.1209+179_1209+180insATAAAG) n.494+179_494+180insATAAAG c.956-5005_956-5004insATAAAG (n.956-5005_956-5004insATAAAG) | |
14 | g.73212121_73212122insGAAAGA | CA2566409076 | PSEN1 | c.1117+179_1117+180insGAAAGA (n.1117+179_1117+180insGAAAGA) c.1129+179_1129+180insGAAAGA (n.1129+179_1129+180insGAAAGA) n.1879+179_1879+180insGAAAGA c.*84+179_*84+180insGAAAGA (n.*84+179_*84+180insGAAAGA) n.1555+179_1555+180insGAAAGA c.1009+179_1009+180insGAAAGA (n.1009+179_1009+180insGAAAGA) c.*1073+179_*1073+180insGAAAGA (n.*1073+179_*1073+180insGAAAGA) n.6679+179_6679+180insGAAAGA c.*1341+179_*1341+180insGAAAGA (n.*1341+179_*1341+180insGAAAGA) c.944-5005_944-5004insGAAAGA (n.944-5005_944-5004insGAAAGA) c.1172+136_1172+137insGAAAGA (n.1172+136_1172+137insGAAAGA) c.*791+179_*791+180insGAAAGA (n.*791+179_*791+180insGAAAGA) c.*687+179_*687+180insGAAAGA (n.*687+179_*687+180insGAAAGA) c.1030+179_1030+180insGAAAGA (n.1030+179_1030+180insGAAAGA) c.*1218+179_*1218+180insGAAAGA (n.*1218+179_*1218+180insGAAAGA) c.880+179_880+180insGAAAGA (n.880+179_880+180insGAAAGA) c.*1068+179_*1068+180insGAAAGA (n.*1068+179_*1068+180insGAAAGA) c.*909+179_*909+180insGAAAGA (n.*909+179_*909+180insGAAAGA) c.*569+179_*569+180insGAAAGA (n.*569+179_*569+180insGAAAGA) c.1156+179_1156+180insGAAAGA (n.1156+179_1156+180insGAAAGA) c.*597+179_*597+180insGAAAGA (n.*597+179_*597+180insGAAAGA) n.1527+179_1527+180insGAAAGA n.2840+179_2840+180insGAAAGA n.340+179_340+180insGAAAGA n.2128+179_2128+180insGAAAGA n.1264+179_1264+180insGAAAGA c.1018+179_1018+180insGAAAGA (n.1018+179_1018+180insGAAAGA) c.853+179_853+180insGAAAGA (n.853+179_853+180insGAAAGA) c.1221+179_1221+180insGAAAGA (n.1221+179_1221+180insGAAAGA) c.1209+179_1209+180insGAAAGA (n.1209+179_1209+180insGAAAGA) n.494+179_494+180insGAAAGA c.956-5005_956-5004insGAAAGA (n.956-5005_956-5004insGAAAGA) | |
14 | g.73212122T>G | CA2802117639 | PSEN1 | c.1117+180T>G (n.1117+180T>G) c.1129+180T>G (n.1129+180T>G) n.1879+180T>G c.*84+180T>G (n.*84+180T>G) n.1555+180T>G c.1009+180T>G (n.1009+180T>G) c.*1073+180T>G (n.*1073+180T>G) n.6679+180T>G c.*1341+180T>G (n.*1341+180T>G) c.944-5004T>G (n.944-5004T>G) c.1172+137T>G (n.1172+137T>G) c.*791+180T>G (n.*791+180T>G) c.*687+180T>G (n.*687+180T>G) c.1030+180T>G (n.1030+180T>G) c.*1218+180T>G (n.*1218+180T>G) c.880+180T>G (n.880+180T>G) c.*1068+180T>G (n.*1068+180T>G) c.*909+180T>G (n.*909+180T>G) c.*569+180T>G (n.*569+180T>G) c.1156+180T>G (n.1156+180T>G) c.*597+180T>G (n.*597+180T>G) n.1527+180T>G n.2840+180T>G n.340+180T>G n.2128+180T>G n.1264+180T>G c.1018+180T>G (n.1018+180T>G) c.853+180T>G (n.853+180T>G) c.1221+180T>G (n.1221+180T>G) c.1209+180T>G (n.1209+180T>G) n.494+180T>G c.956-5004T>G (n.956-5004T>G) | |
14 | g.73212122_73212130del | CA2538534598 | PSEN1 | c.1117+180_1117+188del (n.1117+180_1117+188del) c.1129+180_1129+188del (n.1129+180_1129+188del) n.1879+180_1879+188del c.*84+180_*84+188del (n.*84+180_*84+188del) n.1555+180_1555+188del c.1009+180_1009+188del (n.1009+180_1009+188del) c.*1073+180_*1073+188del (n.*1073+180_*1073+188del) n.6679+180_6679+188del c.*1341+180_*1341+188del (n.*1341+180_*1341+188del) c.944-5004_944-4996del (n.944-5004_944-4996del) c.1172+137_1172+145del (n.1172+137_1172+145del) c.*791+180_*791+188del (n.*791+180_*791+188del) c.*687+180_*687+188del (n.*687+180_*687+188del) c.1030+180_1030+188del (n.1030+180_1030+188del) c.*1218+180_*1218+188del (n.*1218+180_*1218+188del) c.880+180_880+188del (n.880+180_880+188del) c.*1068+180_*1068+188del (n.*1068+180_*1068+188del) c.*909+180_*909+188del (n.*909+180_*909+188del) c.*569+180_*569+188del (n.*569+180_*569+188del) c.1156+180_1156+188del (n.1156+180_1156+188del) c.*597+180_*597+188del (n.*597+180_*597+188del) n.1527+180_1527+188del n.2840+180_2840+188del n.340+180_340+188del n.2128+180_2128+188del n.1264+180_1264+188del c.1018+180_1018+188del (n.1018+180_1018+188del) c.853+180_853+188del (n.853+180_853+188del) c.1221+180_1221+188del (n.1221+180_1221+188del) c.1209+180_1209+188del (n.1209+180_1209+188del) n.494+180_494+188del c.956-5004_956-4996del (n.956-5004_956-4996del) | gnomAD v3 gnomAD v4 |
14 | g.73212122_73212131del | CA2802117640 | PSEN1 | c.1117+180_1117+189del (n.1117+180_1117+189del) c.1129+180_1129+189del (n.1129+180_1129+189del) n.1879+180_1879+189del c.*84+180_*84+189del (n.*84+180_*84+189del) n.1555+180_1555+189del c.1009+180_1009+189del (n.1009+180_1009+189del) c.*1073+180_*1073+189del (n.*1073+180_*1073+189del) n.6679+180_6679+189del c.*1341+180_*1341+189del (n.*1341+180_*1341+189del) c.944-5004_944-4995del (n.944-5004_944-4995del) c.1172+137_1172+146del (n.1172+137_1172+146del) c.*791+180_*791+189del (n.*791+180_*791+189del) c.*687+180_*687+189del (n.*687+180_*687+189del) c.1030+180_1030+189del (n.1030+180_1030+189del) c.*1218+180_*1218+189del (n.*1218+180_*1218+189del) c.880+180_880+189del (n.880+180_880+189del) c.*1068+180_*1068+189del (n.*1068+180_*1068+189del) c.*909+180_*909+189del (n.*909+180_*909+189del) c.*569+180_*569+189del (n.*569+180_*569+189del) c.1156+180_1156+189del (n.1156+180_1156+189del) c.*597+180_*597+189del (n.*597+180_*597+189del) n.1527+180_1527+189del n.2840+180_2840+189del n.340+180_340+189del n.2128+180_2128+189del n.1264+180_1264+189del c.1018+180_1018+189del (n.1018+180_1018+189del) c.853+180_853+189del (n.853+180_853+189del) c.1221+180_1221+189del (n.1221+180_1221+189del) c.1209+180_1209+189del (n.1209+180_1209+189del) n.494+180_494+189del c.956-5004_956-4995del (n.956-5004_956-4995del) | |
14 | g.73212122_73212123insGAAAG | CA2802117642 | PSEN1 | c.1117+180_1117+181insGAAAG (n.1117+180_1117+181insGAAAG) c.1129+180_1129+181insGAAAG (n.1129+180_1129+181insGAAAG) n.1879+180_1879+181insGAAAG c.*84+180_*84+181insGAAAG (n.*84+180_*84+181insGAAAG) n.1555+180_1555+181insGAAAG c.1009+180_1009+181insGAAAG (n.1009+180_1009+181insGAAAG) c.*1073+180_*1073+181insGAAAG (n.*1073+180_*1073+181insGAAAG) n.6679+180_6679+181insGAAAG c.*1341+180_*1341+181insGAAAG (n.*1341+180_*1341+181insGAAAG) c.944-5004_944-5003insGAAAG (n.944-5004_944-5003insGAAAG) c.1172+137_1172+138insGAAAG (n.1172+137_1172+138insGAAAG) c.*791+180_*791+181insGAAAG (n.*791+180_*791+181insGAAAG) c.*687+180_*687+181insGAAAG (n.*687+180_*687+181insGAAAG) c.1030+180_1030+181insGAAAG (n.1030+180_1030+181insGAAAG) c.*1218+180_*1218+181insGAAAG (n.*1218+180_*1218+181insGAAAG) c.880+180_880+181insGAAAG (n.880+180_880+181insGAAAG) c.*1068+180_*1068+181insGAAAG (n.*1068+180_*1068+181insGAAAG) c.*909+180_*909+181insGAAAG (n.*909+180_*909+181insGAAAG) c.*569+180_*569+181insGAAAG (n.*569+180_*569+181insGAAAG) c.1156+180_1156+181insGAAAG (n.1156+180_1156+181insGAAAG) c.*597+180_*597+181insGAAAG (n.*597+180_*597+181insGAAAG) n.1527+180_1527+181insGAAAG n.2840+180_2840+181insGAAAG n.340+180_340+181insGAAAG n.2128+180_2128+181insGAAAG n.1264+180_1264+181insGAAAG c.1018+180_1018+181insGAAAG (n.1018+180_1018+181insGAAAG) c.853+180_853+181insGAAAG (n.853+180_853+181insGAAAG) c.1221+180_1221+181insGAAAG (n.1221+180_1221+181insGAAAG) c.1209+180_1209+181insGAAAG (n.1209+180_1209+181insGAAAG) n.494+180_494+181insGAAAG c.956-5004_956-5003insGAAAG (n.956-5004_956-5003insGAAAG) | |
14 | g.73212123_73212130del | CA2595750868 | PSEN1 | c.1117+181_1117+188del (n.1117+181_1117+188del) c.1129+181_1129+188del (n.1129+181_1129+188del) n.1879+181_1879+188del c.*84+181_*84+188del (n.*84+181_*84+188del) n.1555+181_1555+188del c.1009+181_1009+188del (n.1009+181_1009+188del) c.*1073+181_*1073+188del (n.*1073+181_*1073+188del) n.6679+181_6679+188del c.*1341+181_*1341+188del (n.*1341+181_*1341+188del) c.944-5003_944-4996del (n.944-5003_944-4996del) c.1172+138_1172+145del (n.1172+138_1172+145del) c.*791+181_*791+188del (n.*791+181_*791+188del) c.*687+181_*687+188del (n.*687+181_*687+188del) c.1030+181_1030+188del (n.1030+181_1030+188del) c.*1218+181_*1218+188del (n.*1218+181_*1218+188del) c.880+181_880+188del (n.880+181_880+188del) c.*1068+181_*1068+188del (n.*1068+181_*1068+188del) c.*909+181_*909+188del (n.*909+181_*909+188del) c.*569+181_*569+188del (n.*569+181_*569+188del) c.1156+181_1156+188del (n.1156+181_1156+188del) c.*597+181_*597+188del (n.*597+181_*597+188del) n.1527+181_1527+188del n.2840+181_2840+188del n.340+181_340+188del n.2128+181_2128+188del n.1264+181_1264+188del c.1018+181_1018+188del (n.1018+181_1018+188del) c.853+181_853+188del (n.853+181_853+188del) c.1221+181_1221+188del (n.1221+181_1221+188del) c.1209+181_1209+188del (n.1209+181_1209+188del) n.494+181_494+188del c.956-5003_956-4996del (n.956-5003_956-4996del) | gnomAD v3 gnomAD v4 |
14 | g.73212123_73212131del | CA964615068 | PSEN1 | c.1117+181_1117+189del (n.1117+181_1117+189del) c.1129+181_1129+189del (n.1129+181_1129+189del) n.1879+181_1879+189del c.*84+181_*84+189del (n.*84+181_*84+189del) n.1555+181_1555+189del c.1009+181_1009+189del (n.1009+181_1009+189del) c.*1073+181_*1073+189del (n.*1073+181_*1073+189del) n.6679+181_6679+189del c.*1341+181_*1341+189del (n.*1341+181_*1341+189del) c.944-5003_944-4995del (n.944-5003_944-4995del) c.1172+138_1172+146del (n.1172+138_1172+146del) c.*791+181_*791+189del (n.*791+181_*791+189del) c.*687+181_*687+189del (n.*687+181_*687+189del) c.1030+181_1030+189del (n.1030+181_1030+189del) c.*1218+181_*1218+189del (n.*1218+181_*1218+189del) c.880+181_880+189del (n.880+181_880+189del) c.*1068+181_*1068+189del (n.*1068+181_*1068+189del) c.*909+181_*909+189del (n.*909+181_*909+189del) c.*569+181_*569+189del (n.*569+181_*569+189del) c.1156+181_1156+189del (n.1156+181_1156+189del) c.*597+181_*597+189del (n.*597+181_*597+189del) n.1527+181_1527+189del n.2840+181_2840+189del n.340+181_340+189del n.2128+181_2128+189del n.1264+181_1264+189del c.1018+181_1018+189del (n.1018+181_1018+189del) c.853+181_853+189del (n.853+181_853+189del) c.1221+181_1221+189del (n.1221+181_1221+189del) c.1209+181_1209+189del (n.1209+181_1209+189del) n.494+181_494+189del c.956-5003_956-4995del (n.956-5003_956-4995del) | gnomAD v3 gnomAD v4 |
14 | g.73212123_73212124insAAA | CA2802117645 | PSEN1 | c.1117+181_1117+182insAAA (n.1117+181_1117+182insAAA) c.1129+181_1129+182insAAA (n.1129+181_1129+182insAAA) n.1879+181_1879+182insAAA c.*84+181_*84+182insAAA (n.*84+181_*84+182insAAA) n.1555+181_1555+182insAAA c.1009+181_1009+182insAAA (n.1009+181_1009+182insAAA) c.*1073+181_*1073+182insAAA (n.*1073+181_*1073+182insAAA) n.6679+181_6679+182insAAA c.*1341+181_*1341+182insAAA (n.*1341+181_*1341+182insAAA) c.944-5003_944-5002insAAA (n.944-5003_944-5002insAAA) c.1172+138_1172+139insAAA (n.1172+138_1172+139insAAA) c.*791+181_*791+182insAAA (n.*791+181_*791+182insAAA) c.*687+181_*687+182insAAA (n.*687+181_*687+182insAAA) c.1030+181_1030+182insAAA (n.1030+181_1030+182insAAA) c.*1218+181_*1218+182insAAA (n.*1218+181_*1218+182insAAA) c.880+181_880+182insAAA (n.880+181_880+182insAAA) c.*1068+181_*1068+182insAAA (n.*1068+181_*1068+182insAAA) c.*909+181_*909+182insAAA (n.*909+181_*909+182insAAA) c.*569+181_*569+182insAAA (n.*569+181_*569+182insAAA) c.1156+181_1156+182insAAA (n.1156+181_1156+182insAAA) c.*597+181_*597+182insAAA (n.*597+181_*597+182insAAA) n.1527+181_1527+182insAAA n.2840+181_2840+182insAAA n.340+181_340+182insAAA n.2128+181_2128+182insAAA n.1264+181_1264+182insAAA c.1018+181_1018+182insAAA (n.1018+181_1018+182insAAA) c.853+181_853+182insAAA (n.853+181_853+182insAAA) c.1221+181_1221+182insAAA (n.1221+181_1221+182insAAA) c.1209+181_1209+182insAAA (n.1209+181_1209+182insAAA) n.494+181_494+182insAAA c.956-5003_956-5002insAAA (n.956-5003_956-5002insAAA) | |
14 | g.73212123_73212124insAAAA | CA2802117646 | PSEN1 | c.1117+181_1117+182insAAAA (n.1117+181_1117+182insAAAA) c.1129+181_1129+182insAAAA (n.1129+181_1129+182insAAAA) n.1879+181_1879+182insAAAA c.*84+181_*84+182insAAAA (n.*84+181_*84+182insAAAA) n.1555+181_1555+182insAAAA c.1009+181_1009+182insAAAA (n.1009+181_1009+182insAAAA) c.*1073+181_*1073+182insAAAA (n.*1073+181_*1073+182insAAAA) n.6679+181_6679+182insAAAA c.*1341+181_*1341+182insAAAA (n.*1341+181_*1341+182insAAAA) c.944-5003_944-5002insAAAA (n.944-5003_944-5002insAAAA) c.1172+138_1172+139insAAAA (n.1172+138_1172+139insAAAA) c.*791+181_*791+182insAAAA (n.*791+181_*791+182insAAAA) c.*687+181_*687+182insAAAA (n.*687+181_*687+182insAAAA) c.1030+181_1030+182insAAAA (n.1030+181_1030+182insAAAA) c.*1218+181_*1218+182insAAAA (n.*1218+181_*1218+182insAAAA) c.880+181_880+182insAAAA (n.880+181_880+182insAAAA) c.*1068+181_*1068+182insAAAA (n.*1068+181_*1068+182insAAAA) c.*909+181_*909+182insAAAA (n.*909+181_*909+182insAAAA) c.*569+181_*569+182insAAAA (n.*569+181_*569+182insAAAA) c.1156+181_1156+182insAAAA (n.1156+181_1156+182insAAAA) c.*597+181_*597+182insAAAA (n.*597+181_*597+182insAAAA) n.1527+181_1527+182insAAAA n.2840+181_2840+182insAAAA n.340+181_340+182insAAAA n.2128+181_2128+182insAAAA n.1264+181_1264+182insAAAA c.1018+181_1018+182insAAAA (n.1018+181_1018+182insAAAA) c.853+181_853+182insAAAA (n.853+181_853+182insAAAA) c.1221+181_1221+182insAAAA (n.1221+181_1221+182insAAAA) c.1209+181_1209+182insAAAA (n.1209+181_1209+182insAAAA) n.494+181_494+182insAAAA c.956-5003_956-5002insAAAA (n.956-5003_956-5002insAAAA) | |
14 | g.73212123_73212124insAAAG | CA2595750869 | PSEN1 | c.1117+181_1117+182insAAAG (n.1117+181_1117+182insAAAG) c.1129+181_1129+182insAAAG (n.1129+181_1129+182insAAAG) n.1879+181_1879+182insAAAG c.*84+181_*84+182insAAAG (n.*84+181_*84+182insAAAG) n.1555+181_1555+182insAAAG c.1009+181_1009+182insAAAG (n.1009+181_1009+182insAAAG) c.*1073+181_*1073+182insAAAG (n.*1073+181_*1073+182insAAAG) n.6679+181_6679+182insAAAG c.*1341+181_*1341+182insAAAG (n.*1341+181_*1341+182insAAAG) c.944-5003_944-5002insAAAG (n.944-5003_944-5002insAAAG) c.1172+138_1172+139insAAAG (n.1172+138_1172+139insAAAG) c.*791+181_*791+182insAAAG (n.*791+181_*791+182insAAAG) c.*687+181_*687+182insAAAG (n.*687+181_*687+182insAAAG) c.1030+181_1030+182insAAAG (n.1030+181_1030+182insAAAG) c.*1218+181_*1218+182insAAAG (n.*1218+181_*1218+182insAAAG) c.880+181_880+182insAAAG (n.880+181_880+182insAAAG) c.*1068+181_*1068+182insAAAG (n.*1068+181_*1068+182insAAAG) c.*909+181_*909+182insAAAG (n.*909+181_*909+182insAAAG) c.*569+181_*569+182insAAAG (n.*569+181_*569+182insAAAG) c.1156+181_1156+182insAAAG (n.1156+181_1156+182insAAAG) c.*597+181_*597+182insAAAG (n.*597+181_*597+182insAAAG) n.1527+181_1527+182insAAAG n.2840+181_2840+182insAAAG n.340+181_340+182insAAAG n.2128+181_2128+182insAAAG n.1264+181_1264+182insAAAG c.1018+181_1018+182insAAAG (n.1018+181_1018+182insAAAG) c.853+181_853+182insAAAG (n.853+181_853+182insAAAG) c.1221+181_1221+182insAAAG (n.1221+181_1221+182insAAAG) c.1209+181_1209+182insAAAG (n.1209+181_1209+182insAAAG) n.494+181_494+182insAAAG c.956-5003_956-5002insAAAG (n.956-5003_956-5002insAAAG) | gnomAD v3 gnomAD v4 |
14 | g.73212123_73212124insAAAGA | CA2802117647 | PSEN1 | c.1117+181_1117+182insAAAGA (n.1117+181_1117+182insAAAGA) c.1129+181_1129+182insAAAGA (n.1129+181_1129+182insAAAGA) n.1879+181_1879+182insAAAGA c.*84+181_*84+182insAAAGA (n.*84+181_*84+182insAAAGA) n.1555+181_1555+182insAAAGA c.1009+181_1009+182insAAAGA (n.1009+181_1009+182insAAAGA) c.*1073+181_*1073+182insAAAGA (n.*1073+181_*1073+182insAAAGA) n.6679+181_6679+182insAAAGA c.*1341+181_*1341+182insAAAGA (n.*1341+181_*1341+182insAAAGA) c.944-5003_944-5002insAAAGA (n.944-5003_944-5002insAAAGA) c.1172+138_1172+139insAAAGA (n.1172+138_1172+139insAAAGA) c.*791+181_*791+182insAAAGA (n.*791+181_*791+182insAAAGA) c.*687+181_*687+182insAAAGA (n.*687+181_*687+182insAAAGA) c.1030+181_1030+182insAAAGA (n.1030+181_1030+182insAAAGA) c.*1218+181_*1218+182insAAAGA (n.*1218+181_*1218+182insAAAGA) c.880+181_880+182insAAAGA (n.880+181_880+182insAAAGA) c.*1068+181_*1068+182insAAAGA (n.*1068+181_*1068+182insAAAGA) c.*909+181_*909+182insAAAGA (n.*909+181_*909+182insAAAGA) c.*569+181_*569+182insAAAGA (n.*569+181_*569+182insAAAGA) c.1156+181_1156+182insAAAGA (n.1156+181_1156+182insAAAGA) c.*597+181_*597+182insAAAGA (n.*597+181_*597+182insAAAGA) n.1527+181_1527+182insAAAGA n.2840+181_2840+182insAAAGA n.340+181_340+182insAAAGA n.2128+181_2128+182insAAAGA n.1264+181_1264+182insAAAGA c.1018+181_1018+182insAAAGA (n.1018+181_1018+182insAAAGA) c.853+181_853+182insAAAGA (n.853+181_853+182insAAAGA) c.1221+181_1221+182insAAAGA (n.1221+181_1221+182insAAAGA) c.1209+181_1209+182insAAAGA (n.1209+181_1209+182insAAAGA) n.494+181_494+182insAAAGA c.956-5003_956-5002insAAAGA (n.956-5003_956-5002insAAAGA) | |
14 | g.73212124_73212130del | CA2802117649 | PSEN1 | c.1117+182_1117+188del (n.1117+182_1117+188del) c.1129+182_1129+188del (n.1129+182_1129+188del) n.1879+182_1879+188del c.*84+182_*84+188del (n.*84+182_*84+188del) n.1555+182_1555+188del c.1009+182_1009+188del (n.1009+182_1009+188del) c.*1073+182_*1073+188del (n.*1073+182_*1073+188del) n.6679+182_6679+188del c.*1341+182_*1341+188del (n.*1341+182_*1341+188del) c.944-5002_944-4996del (n.944-5002_944-4996del) c.1172+139_1172+145del (n.1172+139_1172+145del) c.*791+182_*791+188del (n.*791+182_*791+188del) c.*687+182_*687+188del (n.*687+182_*687+188del) c.1030+182_1030+188del (n.1030+182_1030+188del) c.*1218+182_*1218+188del (n.*1218+182_*1218+188del) c.880+182_880+188del (n.880+182_880+188del) c.*1068+182_*1068+188del (n.*1068+182_*1068+188del) c.*909+182_*909+188del (n.*909+182_*909+188del) c.*569+182_*569+188del (n.*569+182_*569+188del) c.1156+182_1156+188del (n.1156+182_1156+188del) c.*597+182_*597+188del (n.*597+182_*597+188del) n.1527+182_1527+188del n.2840+182_2840+188del n.340+182_340+188del n.2128+182_2128+188del n.1264+182_1264+188del c.1018+182_1018+188del (n.1018+182_1018+188del) c.853+182_853+188del (n.853+182_853+188del) c.1221+182_1221+188del (n.1221+182_1221+188del) c.1209+182_1209+188del (n.1209+182_1209+188del) n.494+182_494+188del c.956-5002_956-4996del (n.956-5002_956-4996del) | |
14 | g.73212124_73212131del | CA2595750871 | PSEN1 | c.1117+182_1117+189del (n.1117+182_1117+189del) c.1129+182_1129+189del (n.1129+182_1129+189del) n.1879+182_1879+189del c.*84+182_*84+189del (n.*84+182_*84+189del) n.1555+182_1555+189del c.1009+182_1009+189del (n.1009+182_1009+189del) c.*1073+182_*1073+189del (n.*1073+182_*1073+189del) n.6679+182_6679+189del c.*1341+182_*1341+189del (n.*1341+182_*1341+189del) c.944-5002_944-4995del (n.944-5002_944-4995del) c.1172+139_1172+146del (n.1172+139_1172+146del) c.*791+182_*791+189del (n.*791+182_*791+189del) c.*687+182_*687+189del (n.*687+182_*687+189del) c.1030+182_1030+189del (n.1030+182_1030+189del) c.*1218+182_*1218+189del (n.*1218+182_*1218+189del) c.880+182_880+189del (n.880+182_880+189del) c.*1068+182_*1068+189del (n.*1068+182_*1068+189del) c.*909+182_*909+189del (n.*909+182_*909+189del) c.*569+182_*569+189del (n.*569+182_*569+189del) c.1156+182_1156+189del (n.1156+182_1156+189del) c.*597+182_*597+189del (n.*597+182_*597+189del) n.1527+182_1527+189del n.2840+182_2840+189del n.340+182_340+189del n.2128+182_2128+189del n.1264+182_1264+189del c.1018+182_1018+189del (n.1018+182_1018+189del) c.853+182_853+189del (n.853+182_853+189del) c.1221+182_1221+189del (n.1221+182_1221+189del) c.1209+182_1209+189del (n.1209+182_1209+189del) n.494+182_494+189del c.956-5002_956-4995del (n.956-5002_956-4995del) | gnomAD v3 gnomAD v4 |
14 | g.73212124_73212132del | CA2595750870 | PSEN1 | c.1117+182_1117+190del (n.1117+182_1117+190del) c.1129+182_1129+190del (n.1129+182_1129+190del) n.1879+182_1879+190del c.*84+182_*84+190del (n.*84+182_*84+190del) n.1555+182_1555+190del c.1009+182_1009+190del (n.1009+182_1009+190del) c.*1073+182_*1073+190del (n.*1073+182_*1073+190del) n.6679+182_6679+190del c.*1341+182_*1341+190del (n.*1341+182_*1341+190del) c.944-5002_944-4994del (n.944-5002_944-4994del) c.1172+139_1172+147del (n.1172+139_1172+147del) c.*791+182_*791+190del (n.*791+182_*791+190del) c.*687+182_*687+190del (n.*687+182_*687+190del) c.1030+182_1030+190del (n.1030+182_1030+190del) c.*1218+182_*1218+190del (n.*1218+182_*1218+190del) c.880+182_880+190del (n.880+182_880+190del) c.*1068+182_*1068+190del (n.*1068+182_*1068+190del) c.*909+182_*909+190del (n.*909+182_*909+190del) c.*569+182_*569+190del (n.*569+182_*569+190del) c.1156+182_1156+190del (n.1156+182_1156+190del) c.*597+182_*597+190del (n.*597+182_*597+190del) n.1527+182_1527+190del n.2840+182_2840+190del n.340+182_340+190del n.2128+182_2128+190del n.1264+182_1264+190del c.1018+182_1018+190del (n.1018+182_1018+190del) c.853+182_853+190del (n.853+182_853+190del) c.1221+182_1221+190del (n.1221+182_1221+190del) c.1209+182_1209+190del (n.1209+182_1209+190del) n.494+182_494+190del c.956-5002_956-4994del (n.956-5002_956-4994del) | gnomAD v3 gnomAD v4 |
14 | g.73212124_73212125insAAG | CA2729783389 | PSEN1 | c.1117+182_1117+183insAAG (n.1117+182_1117+183insAAG) c.1129+182_1129+183insAAG (n.1129+182_1129+183insAAG) n.1879+182_1879+183insAAG c.*84+182_*84+183insAAG (n.*84+182_*84+183insAAG) n.1555+182_1555+183insAAG c.1009+182_1009+183insAAG (n.1009+182_1009+183insAAG) c.*1073+182_*1073+183insAAG (n.*1073+182_*1073+183insAAG) n.6679+182_6679+183insAAG c.*1341+182_*1341+183insAAG (n.*1341+182_*1341+183insAAG) c.944-5002_944-5001insAAG (n.944-5002_944-5001insAAG) c.1172+139_1172+140insAAG (n.1172+139_1172+140insAAG) c.*791+182_*791+183insAAG (n.*791+182_*791+183insAAG) c.*687+182_*687+183insAAG (n.*687+182_*687+183insAAG) c.1030+182_1030+183insAAG (n.1030+182_1030+183insAAG) c.*1218+182_*1218+183insAAG (n.*1218+182_*1218+183insAAG) c.880+182_880+183insAAG (n.880+182_880+183insAAG) c.*1068+182_*1068+183insAAG (n.*1068+182_*1068+183insAAG) c.*909+182_*909+183insAAG (n.*909+182_*909+183insAAG) c.*569+182_*569+183insAAG (n.*569+182_*569+183insAAG) c.1156+182_1156+183insAAG (n.1156+182_1156+183insAAG) c.*597+182_*597+183insAAG (n.*597+182_*597+183insAAG) n.1527+182_1527+183insAAG n.2840+182_2840+183insAAG n.340+182_340+183insAAG n.2128+182_2128+183insAAG n.1264+182_1264+183insAAG c.1018+182_1018+183insAAG (n.1018+182_1018+183insAAG) c.853+182_853+183insAAG (n.853+182_853+183insAAG) c.1221+182_1221+183insAAG (n.1221+182_1221+183insAAG) c.1209+182_1209+183insAAG (n.1209+182_1209+183insAAG) n.494+182_494+183insAAG c.956-5002_956-5001insAAG (n.956-5002_956-5001insAAG) | dbSNP |
14 | g.73212124_73212125insATAAA | CA2802117652 | PSEN1 | c.1117+182_1117+183insATAAA (n.1117+182_1117+183insATAAA) c.1129+182_1129+183insATAAA (n.1129+182_1129+183insATAAA) n.1879+182_1879+183insATAAA c.*84+182_*84+183insATAAA (n.*84+182_*84+183insATAAA) n.1555+182_1555+183insATAAA c.1009+182_1009+183insATAAA (n.1009+182_1009+183insATAAA) c.*1073+182_*1073+183insATAAA (n.*1073+182_*1073+183insATAAA) n.6679+182_6679+183insATAAA c.*1341+182_*1341+183insATAAA (n.*1341+182_*1341+183insATAAA) c.944-5002_944-5001insATAAA (n.944-5002_944-5001insATAAA) c.1172+139_1172+140insATAAA (n.1172+139_1172+140insATAAA) c.*791+182_*791+183insATAAA (n.*791+182_*791+183insATAAA) c.*687+182_*687+183insATAAA (n.*687+182_*687+183insATAAA) c.1030+182_1030+183insATAAA (n.1030+182_1030+183insATAAA) c.*1218+182_*1218+183insATAAA (n.*1218+182_*1218+183insATAAA) c.880+182_880+183insATAAA (n.880+182_880+183insATAAA) c.*1068+182_*1068+183insATAAA (n.*1068+182_*1068+183insATAAA) c.*909+182_*909+183insATAAA (n.*909+182_*909+183insATAAA) c.*569+182_*569+183insATAAA (n.*569+182_*569+183insATAAA) c.1156+182_1156+183insATAAA (n.1156+182_1156+183insATAAA) c.*597+182_*597+183insATAAA (n.*597+182_*597+183insATAAA) n.1527+182_1527+183insATAAA n.2840+182_2840+183insATAAA n.340+182_340+183insATAAA n.2128+182_2128+183insATAAA n.1264+182_1264+183insATAAA c.1018+182_1018+183insATAAA (n.1018+182_1018+183insATAAA) c.853+182_853+183insATAAA (n.853+182_853+183insATAAA) c.1221+182_1221+183insATAAA (n.1221+182_1221+183insATAAA) c.1209+182_1209+183insATAAA (n.1209+182_1209+183insATAAA) n.494+182_494+183insATAAA c.956-5002_956-5001insATAAA (n.956-5002_956-5001insATAAA) | |
14 | g.73212125T>C | CA2146495600 | PSEN1 | c.1117+183T>C (n.1117+183T>C) c.1129+183T>C (n.1129+183T>C) n.1879+183T>C c.*84+183T>C (n.*84+183T>C) n.1555+183T>C c.1009+183T>C (n.1009+183T>C) c.*1073+183T>C (n.*1073+183T>C) n.6679+183T>C c.*1341+183T>C (n.*1341+183T>C) c.944-5001T>C (n.944-5001T>C) c.1172+140T>C (n.1172+140T>C) c.*791+183T>C (n.*791+183T>C) c.*687+183T>C (n.*687+183T>C) c.1030+183T>C (n.1030+183T>C) c.*1218+183T>C (n.*1218+183T>C) c.880+183T>C (n.880+183T>C) c.*1068+183T>C (n.*1068+183T>C) c.*909+183T>C (n.*909+183T>C) c.*569+183T>C (n.*569+183T>C) c.1156+183T>C (n.1156+183T>C) c.*597+183T>C (n.*597+183T>C) n.1527+183T>C n.2840+183T>C n.340+183T>C n.2128+183T>C n.1264+183T>C c.1018+183T>C (n.1018+183T>C) c.853+183T>C (n.853+183T>C) c.1221+183T>C (n.1221+183T>C) c.1209+183T>C (n.1209+183T>C) n.494+183T>C c.956-5001T>C (n.956-5001T>C) | dbSNP |
14 | g.73212125T= | CA2146495599 | PSEN1 | c.1117+183T= (n.1117+183T=) c.1129+183T= (n.1129+183T=) n.1879+183T= c.*84+183T= (n.*84+183T=) n.1555+183T= c.1009+183T= (n.1009+183T=) c.*1073+183T= (n.*1073+183T=) n.6679+183T= c.*1341+183T= (n.*1341+183T=) c.944-5001T= (n.944-5001T=) c.1172+140T= (n.1172+140T=) c.*791+183T= (n.*791+183T=) c.*687+183T= (n.*687+183T=) c.1030+183T= (n.1030+183T=) c.*1218+183T= (n.*1218+183T=) c.880+183T= (n.880+183T=) c.*1068+183T= (n.*1068+183T=) c.*909+183T= (n.*909+183T=) c.*569+183T= (n.*569+183T=) c.1156+183T= (n.1156+183T=) c.*597+183T= (n.*597+183T=) n.1527+183T= n.2840+183T= n.340+183T= n.2128+183T= n.1264+183T= c.1018+183T= (n.1018+183T=) c.853+183T= (n.853+183T=) c.1221+183T= (n.1221+183T=) c.1209+183T= (n.1209+183T=) n.494+183T= c.956-5001T= (n.956-5001T=) | |
14 | g.73212125_73212130del | CA2802117653 | PSEN1 | c.1117+183_1117+188del (n.1117+183_1117+188del) c.1129+183_1129+188del (n.1129+183_1129+188del) n.1879+183_1879+188del c.*84+183_*84+188del (n.*84+183_*84+188del) n.1555+183_1555+188del c.1009+183_1009+188del (n.1009+183_1009+188del) c.*1073+183_*1073+188del (n.*1073+183_*1073+188del) n.6679+183_6679+188del c.*1341+183_*1341+188del (n.*1341+183_*1341+188del) c.944-5001_944-4996del (n.944-5001_944-4996del) c.1172+140_1172+145del (n.1172+140_1172+145del) c.*791+183_*791+188del (n.*791+183_*791+188del) c.*687+183_*687+188del (n.*687+183_*687+188del) c.1030+183_1030+188del (n.1030+183_1030+188del) c.*1218+183_*1218+188del (n.*1218+183_*1218+188del) c.880+183_880+188del (n.880+183_880+188del) c.*1068+183_*1068+188del (n.*1068+183_*1068+188del) c.*909+183_*909+188del (n.*909+183_*909+188del) c.*569+183_*569+188del (n.*569+183_*569+188del) c.1156+183_1156+188del (n.1156+183_1156+188del) c.*597+183_*597+188del (n.*597+183_*597+188del) n.1527+183_1527+188del n.2840+183_2840+188del n.340+183_340+188del n.2128+183_2128+188del n.1264+183_1264+188del c.1018+183_1018+188del (n.1018+183_1018+188del) c.853+183_853+188del (n.853+183_853+188del) c.1221+183_1221+188del (n.1221+183_1221+188del) c.1209+183_1209+188del (n.1209+183_1209+188del) n.494+183_494+188del c.956-5001_956-4996del (n.956-5001_956-4996del) | |
14 | g.73212125_73212132del | CA2802117654 | PSEN1 | c.1117+183_1117+190del (n.1117+183_1117+190del) c.1129+183_1129+190del (n.1129+183_1129+190del) n.1879+183_1879+190del c.*84+183_*84+190del (n.*84+183_*84+190del) n.1555+183_1555+190del c.1009+183_1009+190del (n.1009+183_1009+190del) c.*1073+183_*1073+190del (n.*1073+183_*1073+190del) n.6679+183_6679+190del c.*1341+183_*1341+190del (n.*1341+183_*1341+190del) c.944-5001_944-4994del (n.944-5001_944-4994del) c.1172+140_1172+147del (n.1172+140_1172+147del) c.*791+183_*791+190del (n.*791+183_*791+190del) c.*687+183_*687+190del (n.*687+183_*687+190del) c.1030+183_1030+190del (n.1030+183_1030+190del) c.*1218+183_*1218+190del (n.*1218+183_*1218+190del) c.880+183_880+190del (n.880+183_880+190del) c.*1068+183_*1068+190del (n.*1068+183_*1068+190del) c.*909+183_*909+190del (n.*909+183_*909+190del) c.*569+183_*569+190del (n.*569+183_*569+190del) c.1156+183_1156+190del (n.1156+183_1156+190del) c.*597+183_*597+190del (n.*597+183_*597+190del) n.1527+183_1527+190del n.2840+183_2840+190del n.340+183_340+190del n.2128+183_2128+190del n.1264+183_1264+190del c.1018+183_1018+190del (n.1018+183_1018+190del) c.853+183_853+190del (n.853+183_853+190del) c.1221+183_1221+190del (n.1221+183_1221+190del) c.1209+183_1209+190del (n.1209+183_1209+190del) n.494+183_494+190del c.956-5001_956-4994del (n.956-5001_956-4994del) | |
14 | g.73212126_73212130del | CA2802117657 | PSEN1 | c.1117+184_1117+188del (n.1117+184_1117+188del) c.1129+184_1129+188del (n.1129+184_1129+188del) n.1879+184_1879+188del c.*84+184_*84+188del (n.*84+184_*84+188del) n.1555+184_1555+188del c.1009+184_1009+188del (n.1009+184_1009+188del) c.*1073+184_*1073+188del (n.*1073+184_*1073+188del) n.6679+184_6679+188del c.*1341+184_*1341+188del (n.*1341+184_*1341+188del) c.944-5000_944-4996del (n.944-5000_944-4996del) c.1172+141_1172+145del (n.1172+141_1172+145del) c.*791+184_*791+188del (n.*791+184_*791+188del) c.*687+184_*687+188del (n.*687+184_*687+188del) c.1030+184_1030+188del (n.1030+184_1030+188del) c.*1218+184_*1218+188del (n.*1218+184_*1218+188del) c.880+184_880+188del (n.880+184_880+188del) c.*1068+184_*1068+188del (n.*1068+184_*1068+188del) c.*909+184_*909+188del (n.*909+184_*909+188del) c.*569+184_*569+188del (n.*569+184_*569+188del) c.1156+184_1156+188del (n.1156+184_1156+188del) c.*597+184_*597+188del (n.*597+184_*597+188del) n.1527+184_1527+188del n.2840+184_2840+188del n.340+184_340+188del n.2128+184_2128+188del n.1264+184_1264+188del c.1018+184_1018+188del (n.1018+184_1018+188del) c.853+184_853+188del (n.853+184_853+188del) c.1221+184_1221+188del (n.1221+184_1221+188del) c.1209+184_1209+188del (n.1209+184_1209+188del) n.494+184_494+188del c.956-5000_956-4996del (n.956-5000_956-4996del) | |
14 | g.73212126_73212131del | CA2802117659 | PSEN1 | c.1117+184_1117+189del (n.1117+184_1117+189del) c.1129+184_1129+189del (n.1129+184_1129+189del) n.1879+184_1879+189del c.*84+184_*84+189del (n.*84+184_*84+189del) n.1555+184_1555+189del c.1009+184_1009+189del (n.1009+184_1009+189del) c.*1073+184_*1073+189del (n.*1073+184_*1073+189del) n.6679+184_6679+189del c.*1341+184_*1341+189del (n.*1341+184_*1341+189del) c.944-5000_944-4995del (n.944-5000_944-4995del) c.1172+141_1172+146del (n.1172+141_1172+146del) c.*791+184_*791+189del (n.*791+184_*791+189del) c.*687+184_*687+189del (n.*687+184_*687+189del) c.1030+184_1030+189del (n.1030+184_1030+189del) c.*1218+184_*1218+189del (n.*1218+184_*1218+189del) c.880+184_880+189del (n.880+184_880+189del) c.*1068+184_*1068+189del (n.*1068+184_*1068+189del) c.*909+184_*909+189del (n.*909+184_*909+189del) c.*569+184_*569+189del (n.*569+184_*569+189del) c.1156+184_1156+189del (n.1156+184_1156+189del) c.*597+184_*597+189del (n.*597+184_*597+189del) n.1527+184_1527+189del n.2840+184_2840+189del n.340+184_340+189del n.2128+184_2128+189del n.1264+184_1264+189del c.1018+184_1018+189del (n.1018+184_1018+189del) c.853+184_853+189del (n.853+184_853+189del) c.1221+184_1221+189del (n.1221+184_1221+189del) c.1209+184_1209+189del (n.1209+184_1209+189del) n.494+184_494+189del c.956-5000_956-4995del (n.956-5000_956-4995del) | |
14 | g.73212126_73212132del | CA2595750872 | PSEN1 | c.1117+184_1117+190del (n.1117+184_1117+190del) c.1129+184_1129+190del (n.1129+184_1129+190del) n.1879+184_1879+190del c.*84+184_*84+190del (n.*84+184_*84+190del) n.1555+184_1555+190del c.1009+184_1009+190del (n.1009+184_1009+190del) c.*1073+184_*1073+190del (n.*1073+184_*1073+190del) n.6679+184_6679+190del c.*1341+184_*1341+190del (n.*1341+184_*1341+190del) c.944-5000_944-4994del (n.944-5000_944-4994del) c.1172+141_1172+147del (n.1172+141_1172+147del) c.*791+184_*791+190del (n.*791+184_*791+190del) c.*687+184_*687+190del (n.*687+184_*687+190del) c.1030+184_1030+190del (n.1030+184_1030+190del) c.*1218+184_*1218+190del (n.*1218+184_*1218+190del) c.880+184_880+190del (n.880+184_880+190del) c.*1068+184_*1068+190del (n.*1068+184_*1068+190del) c.*909+184_*909+190del (n.*909+184_*909+190del) c.*569+184_*569+190del (n.*569+184_*569+190del) c.1156+184_1156+190del (n.1156+184_1156+190del) c.*597+184_*597+190del (n.*597+184_*597+190del) n.1527+184_1527+190del n.2840+184_2840+190del n.340+184_340+190del n.2128+184_2128+190del n.1264+184_1264+190del c.1018+184_1018+190del (n.1018+184_1018+190del) c.853+184_853+190del (n.853+184_853+190del) c.1221+184_1221+190del (n.1221+184_1221+190del) c.1209+184_1209+190del (n.1209+184_1209+190del) n.494+184_494+190del c.956-5000_956-4994del (n.956-5000_956-4994del) | gnomAD v3 gnomAD v4 |
14 | g.73212126_73212133del | CA2802117661 | PSEN1 | c.1117+184_1117+191del (n.1117+184_1117+191del) c.1129+184_1129+191del (n.1129+184_1129+191del) n.1879+184_1879+191del c.*84+184_*84+191del (n.*84+184_*84+191del) n.1555+184_1555+191del c.1009+184_1009+191del (n.1009+184_1009+191del) c.*1073+184_*1073+191del (n.*1073+184_*1073+191del) n.6679+184_6679+191del c.*1341+184_*1341+191del (n.*1341+184_*1341+191del) c.944-5000_944-4993del (n.944-5000_944-4993del) c.1172+141_1172+148del (n.1172+141_1172+148del) c.*791+184_*791+191del (n.*791+184_*791+191del) c.*687+184_*687+191del (n.*687+184_*687+191del) c.1030+184_1030+191del (n.1030+184_1030+191del) c.*1218+184_*1218+191del (n.*1218+184_*1218+191del) c.880+184_880+191del (n.880+184_880+191del) c.*1068+184_*1068+191del (n.*1068+184_*1068+191del) c.*909+184_*909+191del (n.*909+184_*909+191del) c.*569+184_*569+191del (n.*569+184_*569+191del) c.1156+184_1156+191del (n.1156+184_1156+191del) c.*597+184_*597+191del (n.*597+184_*597+191del) n.1527+184_1527+191del n.2840+184_2840+191del n.340+184_340+191del n.2128+184_2128+191del n.1264+184_1264+191del c.1018+184_1018+191del (n.1018+184_1018+191del) c.853+184_853+191del (n.853+184_853+191del) c.1221+184_1221+191del (n.1221+184_1221+191del) c.1209+184_1209+191del (n.1209+184_1209+191del) n.494+184_494+191del c.956-5000_956-4993del (n.956-5000_956-4993del) | |
14 | g.73212127T>A | CA615000781 | PSEN1 | c.1117+185T>A (n.1117+185T>A) c.1129+185T>A (n.1129+185T>A) n.1879+185T>A c.*84+185T>A (n.*84+185T>A) n.1555+185T>A c.1009+185T>A (n.1009+185T>A) c.*1073+185T>A (n.*1073+185T>A) n.6679+185T>A c.*1341+185T>A (n.*1341+185T>A) c.944-4999T>A (n.944-4999T>A) c.1172+142T>A (n.1172+142T>A) c.*791+185T>A (n.*791+185T>A) c.*687+185T>A (n.*687+185T>A) c.1030+185T>A (n.1030+185T>A) c.*1218+185T>A (n.*1218+185T>A) c.880+185T>A (n.880+185T>A) c.*1068+185T>A (n.*1068+185T>A) c.*909+185T>A (n.*909+185T>A) c.*569+185T>A (n.*569+185T>A) c.1156+185T>A (n.1156+185T>A) c.*597+185T>A (n.*597+185T>A) n.1527+185T>A n.2840+185T>A n.340+185T>A n.2128+185T>A n.1264+185T>A c.1018+185T>A (n.1018+185T>A) c.853+185T>A (n.853+185T>A) c.1221+185T>A (n.1221+185T>A) c.1209+185T>A (n.1209+185T>A) n.494+185T>A c.956-4999T>A (n.956-4999T>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212127T>G | CA964615078 | PSEN1 | c.1117+185T>G (n.1117+185T>G) c.1129+185T>G (n.1129+185T>G) n.1879+185T>G c.*84+185T>G (n.*84+185T>G) n.1555+185T>G c.1009+185T>G (n.1009+185T>G) c.*1073+185T>G (n.*1073+185T>G) n.6679+185T>G c.*1341+185T>G (n.*1341+185T>G) c.944-4999T>G (n.944-4999T>G) c.1172+142T>G (n.1172+142T>G) c.*791+185T>G (n.*791+185T>G) c.*687+185T>G (n.*687+185T>G) c.1030+185T>G (n.1030+185T>G) c.*1218+185T>G (n.*1218+185T>G) c.880+185T>G (n.880+185T>G) c.*1068+185T>G (n.*1068+185T>G) c.*909+185T>G (n.*909+185T>G) c.*569+185T>G (n.*569+185T>G) c.1156+185T>G (n.1156+185T>G) c.*597+185T>G (n.*597+185T>G) n.1527+185T>G n.2840+185T>G n.340+185T>G n.2128+185T>G n.1264+185T>G c.1018+185T>G (n.1018+185T>G) c.853+185T>G (n.853+185T>G) c.1221+185T>G (n.1221+185T>G) c.1209+185T>G (n.1209+185T>G) n.494+185T>G c.956-4999T>G (n.956-4999T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212127_73212130del | CA2802117664 | PSEN1 | c.1117+185_1117+188del (n.1117+185_1117+188del) c.1129+185_1129+188del (n.1129+185_1129+188del) n.1879+185_1879+188del c.*84+185_*84+188del (n.*84+185_*84+188del) n.1555+185_1555+188del c.1009+185_1009+188del (n.1009+185_1009+188del) c.*1073+185_*1073+188del (n.*1073+185_*1073+188del) n.6679+185_6679+188del c.*1341+185_*1341+188del (n.*1341+185_*1341+188del) c.944-4999_944-4996del (n.944-4999_944-4996del) c.1172+142_1172+145del (n.1172+142_1172+145del) c.*791+185_*791+188del (n.*791+185_*791+188del) c.*687+185_*687+188del (n.*687+185_*687+188del) c.1030+185_1030+188del (n.1030+185_1030+188del) c.*1218+185_*1218+188del (n.*1218+185_*1218+188del) c.880+185_880+188del (n.880+185_880+188del) c.*1068+185_*1068+188del (n.*1068+185_*1068+188del) c.*909+185_*909+188del (n.*909+185_*909+188del) c.*569+185_*569+188del (n.*569+185_*569+188del) c.1156+185_1156+188del (n.1156+185_1156+188del) c.*597+185_*597+188del (n.*597+185_*597+188del) n.1527+185_1527+188del n.2840+185_2840+188del n.340+185_340+188del n.2128+185_2128+188del n.1264+185_1264+188del c.1018+185_1018+188del (n.1018+185_1018+188del) c.853+185_853+188del (n.853+185_853+188del) c.1221+185_1221+188del (n.1221+185_1221+188del) c.1209+185_1209+188del (n.1209+185_1209+188del) n.494+185_494+188del c.956-4999_956-4996del (n.956-4999_956-4996del) | |
14 | g.73212127_73212131del | CA2802117663 | PSEN1 | c.1117+185_1117+189del (n.1117+185_1117+189del) c.1129+185_1129+189del (n.1129+185_1129+189del) n.1879+185_1879+189del c.*84+185_*84+189del (n.*84+185_*84+189del) n.1555+185_1555+189del c.1009+185_1009+189del (n.1009+185_1009+189del) c.*1073+185_*1073+189del (n.*1073+185_*1073+189del) n.6679+185_6679+189del c.*1341+185_*1341+189del (n.*1341+185_*1341+189del) c.944-4999_944-4995del (n.944-4999_944-4995del) c.1172+142_1172+146del (n.1172+142_1172+146del) c.*791+185_*791+189del (n.*791+185_*791+189del) c.*687+185_*687+189del (n.*687+185_*687+189del) c.1030+185_1030+189del (n.1030+185_1030+189del) c.*1218+185_*1218+189del (n.*1218+185_*1218+189del) c.880+185_880+189del (n.880+185_880+189del) c.*1068+185_*1068+189del (n.*1068+185_*1068+189del) c.*909+185_*909+189del (n.*909+185_*909+189del) c.*569+185_*569+189del (n.*569+185_*569+189del) c.1156+185_1156+189del (n.1156+185_1156+189del) c.*597+185_*597+189del (n.*597+185_*597+189del) n.1527+185_1527+189del n.2840+185_2840+189del n.340+185_340+189del n.2128+185_2128+189del n.1264+185_1264+189del c.1018+185_1018+189del (n.1018+185_1018+189del) c.853+185_853+189del (n.853+185_853+189del) c.1221+185_1221+189del (n.1221+185_1221+189del) c.1209+185_1209+189del (n.1209+185_1209+189del) n.494+185_494+189del c.956-4999_956-4995del (n.956-4999_956-4995del) | |
14 | g.73212127_73212128insG | CA2802117665 | PSEN1 | c.1117+185_1117+186insG (n.1117+185_1117+186insG) c.1129+185_1129+186insG (n.1129+185_1129+186insG) n.1879+185_1879+186insG c.*84+185_*84+186insG (n.*84+185_*84+186insG) n.1555+185_1555+186insG c.1009+185_1009+186insG (n.1009+185_1009+186insG) c.*1073+185_*1073+186insG (n.*1073+185_*1073+186insG) n.6679+185_6679+186insG c.*1341+185_*1341+186insG (n.*1341+185_*1341+186insG) c.944-4999_944-4998insG (n.944-4999_944-4998insG) c.1172+142_1172+143insG (n.1172+142_1172+143insG) c.*791+185_*791+186insG (n.*791+185_*791+186insG) c.*687+185_*687+186insG (n.*687+185_*687+186insG) c.1030+185_1030+186insG (n.1030+185_1030+186insG) c.*1218+185_*1218+186insG (n.*1218+185_*1218+186insG) c.880+185_880+186insG (n.880+185_880+186insG) c.*1068+185_*1068+186insG (n.*1068+185_*1068+186insG) c.*909+185_*909+186insG (n.*909+185_*909+186insG) c.*569+185_*569+186insG (n.*569+185_*569+186insG) c.1156+185_1156+186insG (n.1156+185_1156+186insG) c.*597+185_*597+186insG (n.*597+185_*597+186insG) n.1527+185_1527+186insG n.2840+185_2840+186insG n.340+185_340+186insG n.2128+185_2128+186insG n.1264+185_1264+186insG c.1018+185_1018+186insG (n.1018+185_1018+186insG) c.853+185_853+186insG (n.853+185_853+186insG) c.1221+185_1221+186insG (n.1221+185_1221+186insG) c.1209+185_1209+186insG (n.1209+185_1209+186insG) n.494+185_494+186insG c.956-4999_956-4998insG (n.956-4999_956-4998insG) | |
14 | g.73212128T>G | CA708388963 | PSEN1 | c.1117+186T>G (n.1117+186T>G) c.1129+186T>G (n.1129+186T>G) n.1879+186T>G c.*84+186T>G (n.*84+186T>G) n.1555+186T>G c.1009+186T>G (n.1009+186T>G) c.*1073+186T>G (n.*1073+186T>G) n.6679+186T>G c.*1341+186T>G (n.*1341+186T>G) c.944-4998T>G (n.944-4998T>G) c.1172+143T>G (n.1172+143T>G) c.*791+186T>G (n.*791+186T>G) c.*687+186T>G (n.*687+186T>G) c.1030+186T>G (n.1030+186T>G) c.*1218+186T>G (n.*1218+186T>G) c.880+186T>G (n.880+186T>G) c.*1068+186T>G (n.*1068+186T>G) c.*909+186T>G (n.*909+186T>G) c.*569+186T>G (n.*569+186T>G) c.1156+186T>G (n.1156+186T>G) c.*597+186T>G (n.*597+186T>G) n.1527+186T>G n.2840+186T>G n.340+186T>G n.2128+186T>G n.1264+186T>G c.1018+186T>G (n.1018+186T>G) c.853+186T>G (n.853+186T>G) c.1221+186T>G (n.1221+186T>G) c.1209+186T>G (n.1209+186T>G) n.494+186T>G c.956-4998T>G (n.956-4998T>G) | dbSNP |
14 | g.73212128T= | CA2146495601 | PSEN1 | c.1117+186T= (n.1117+186T=) c.1129+186T= (n.1129+186T=) n.1879+186T= c.*84+186T= (n.*84+186T=) n.1555+186T= c.1009+186T= (n.1009+186T=) c.*1073+186T= (n.*1073+186T=) n.6679+186T= c.*1341+186T= (n.*1341+186T=) c.944-4998T= (n.944-4998T=) c.1172+143T= (n.1172+143T=) c.*791+186T= (n.*791+186T=) c.*687+186T= (n.*687+186T=) c.1030+186T= (n.1030+186T=) c.*1218+186T= (n.*1218+186T=) c.880+186T= (n.880+186T=) c.*1068+186T= (n.*1068+186T=) c.*909+186T= (n.*909+186T=) c.*569+186T= (n.*569+186T=) c.1156+186T= (n.1156+186T=) c.*597+186T= (n.*597+186T=) n.1527+186T= n.2840+186T= n.340+186T= n.2128+186T= n.1264+186T= c.1018+186T= (n.1018+186T=) c.853+186T= (n.853+186T=) c.1221+186T= (n.1221+186T=) c.1209+186T= (n.1209+186T=) n.494+186T= c.956-4998T= (n.956-4998T=) | |
14 | g.73212129_73212130insTTTTTTTTTTTTTGTT | CA964615082 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTGTT (n.1117+187_1117+188insTTTTTTTTTTTTTGTT) c.1129+187_1129+188insTTTTTTTTTTTTTGTT (n.1129+187_1129+188insTTTTTTTTTTTTTGTT) n.1879+187_1879+188insTTTTTTTTTTTTTGTT c.*84+187_*84+188insTTTTTTTTTTTTTGTT (n.*84+187_*84+188insTTTTTTTTTTTTTGTT) n.1555+187_1555+188insTTTTTTTTTTTTTGTT c.1009+187_1009+188insTTTTTTTTTTTTTGTT (n.1009+187_1009+188insTTTTTTTTTTTTTGTT) c.*1073+187_*1073+188insTTTTTTTTTTTTTGTT (n.*1073+187_*1073+188insTTTTTTTTTTTTTGTT) n.6679+187_6679+188insTTTTTTTTTTTTTGTT c.*1341+187_*1341+188insTTTTTTTTTTTTTGTT (n.*1341+187_*1341+188insTTTTTTTTTTTTTGTT) c.944-4997_944-4996insTTTTTTTTTTTTTGTT (n.944-4997_944-4996insTTTTTTTTTTTTTGTT) c.1172+144_1172+145insTTTTTTTTTTTTTGTT (n.1172+144_1172+145insTTTTTTTTTTTTTGTT) c.*791+187_*791+188insTTTTTTTTTTTTTGTT (n.*791+187_*791+188insTTTTTTTTTTTTTGTT) c.*687+187_*687+188insTTTTTTTTTTTTTGTT (n.*687+187_*687+188insTTTTTTTTTTTTTGTT) c.1030+187_1030+188insTTTTTTTTTTTTTGTT (n.1030+187_1030+188insTTTTTTTTTTTTTGTT) c.*1218+187_*1218+188insTTTTTTTTTTTTTGTT (n.*1218+187_*1218+188insTTTTTTTTTTTTTGTT) c.880+187_880+188insTTTTTTTTTTTTTGTT (n.880+187_880+188insTTTTTTTTTTTTTGTT) c.*1068+187_*1068+188insTTTTTTTTTTTTTGTT (n.*1068+187_*1068+188insTTTTTTTTTTTTTGTT) c.*909+187_*909+188insTTTTTTTTTTTTTGTT (n.*909+187_*909+188insTTTTTTTTTTTTTGTT) c.*569+187_*569+188insTTTTTTTTTTTTTGTT (n.*569+187_*569+188insTTTTTTTTTTTTTGTT) c.1156+187_1156+188insTTTTTTTTTTTTTGTT (n.1156+187_1156+188insTTTTTTTTTTTTTGTT) c.*597+187_*597+188insTTTTTTTTTTTTTGTT (n.*597+187_*597+188insTTTTTTTTTTTTTGTT) n.1527+187_1527+188insTTTTTTTTTTTTTGTT n.2840+187_2840+188insTTTTTTTTTTTTTGTT n.340+187_340+188insTTTTTTTTTTTTTGTT n.2128+187_2128+188insTTTTTTTTTTTTTGTT n.1264+187_1264+188insTTTTTTTTTTTTTGTT c.1018+187_1018+188insTTTTTTTTTTTTTGTT (n.1018+187_1018+188insTTTTTTTTTTTTTGTT) c.853+187_853+188insTTTTTTTTTTTTTGTT (n.853+187_853+188insTTTTTTTTTTTTTGTT) c.1221+187_1221+188insTTTTTTTTTTTTTGTT (n.1221+187_1221+188insTTTTTTTTTTTTTGTT) c.1209+187_1209+188insTTTTTTTTTTTTTGTT (n.1209+187_1209+188insTTTTTTTTTTTTTGTT) n.494+187_494+188insTTTTTTTTTTTTTGTT c.956-4997_956-4996insTTTTTTTTTTTTTGTT (n.956-4997_956-4996insTTTTTTTTTTTTTGTT) | gnomAD v3 gnomAD v4 |
14 | g.73212128_73212130del | CA2831774401 | PSEN1 | c.1117+186_1117+188del (n.1117+186_1117+188del) c.1129+186_1129+188del (n.1129+186_1129+188del) n.1879+186_1879+188del c.*84+186_*84+188del (n.*84+186_*84+188del) n.1555+186_1555+188del c.1009+186_1009+188del (n.1009+186_1009+188del) c.*1073+186_*1073+188del (n.*1073+186_*1073+188del) n.6679+186_6679+188del c.*1341+186_*1341+188del (n.*1341+186_*1341+188del) c.944-4998_944-4996del (n.944-4998_944-4996del) c.1172+143_1172+145del (n.1172+143_1172+145del) c.*791+186_*791+188del (n.*791+186_*791+188del) c.*687+186_*687+188del (n.*687+186_*687+188del) c.1030+186_1030+188del (n.1030+186_1030+188del) c.*1218+186_*1218+188del (n.*1218+186_*1218+188del) c.880+186_880+188del (n.880+186_880+188del) c.*1068+186_*1068+188del (n.*1068+186_*1068+188del) c.*909+186_*909+188del (n.*909+186_*909+188del) c.*569+186_*569+188del (n.*569+186_*569+188del) c.1156+186_1156+188del (n.1156+186_1156+188del) c.*597+186_*597+188del (n.*597+186_*597+188del) n.1527+186_1527+188del n.2840+186_2840+188del n.340+186_340+188del n.2128+186_2128+188del n.1264+186_1264+188del c.1018+186_1018+188del (n.1018+186_1018+188del) c.853+186_853+188del (n.853+186_853+188del) c.1221+186_1221+188del (n.1221+186_1221+188del) c.1209+186_1209+188del (n.1209+186_1209+188del) n.494+186_494+188del c.956-4998_956-4996del (n.956-4998_956-4996del) | |
14 | g.73212128_73212131del | CA2802117666 | PSEN1 | c.1117+186_1117+189del (n.1117+186_1117+189del) c.1129+186_1129+189del (n.1129+186_1129+189del) n.1879+186_1879+189del c.*84+186_*84+189del (n.*84+186_*84+189del) n.1555+186_1555+189del c.1009+186_1009+189del (n.1009+186_1009+189del) c.*1073+186_*1073+189del (n.*1073+186_*1073+189del) n.6679+186_6679+189del c.*1341+186_*1341+189del (n.*1341+186_*1341+189del) c.944-4998_944-4995del (n.944-4998_944-4995del) c.1172+143_1172+146del (n.1172+143_1172+146del) c.*791+186_*791+189del (n.*791+186_*791+189del) c.*687+186_*687+189del (n.*687+186_*687+189del) c.1030+186_1030+189del (n.1030+186_1030+189del) c.*1218+186_*1218+189del (n.*1218+186_*1218+189del) c.880+186_880+189del (n.880+186_880+189del) c.*1068+186_*1068+189del (n.*1068+186_*1068+189del) c.*909+186_*909+189del (n.*909+186_*909+189del) c.*569+186_*569+189del (n.*569+186_*569+189del) c.1156+186_1156+189del (n.1156+186_1156+189del) c.*597+186_*597+189del (n.*597+186_*597+189del) n.1527+186_1527+189del n.2840+186_2840+189del n.340+186_340+189del n.2128+186_2128+189del n.1264+186_1264+189del c.1018+186_1018+189del (n.1018+186_1018+189del) c.853+186_853+189del (n.853+186_853+189del) c.1221+186_1221+189del (n.1221+186_1221+189del) c.1209+186_1209+189del (n.1209+186_1209+189del) n.494+186_494+189del c.956-4998_956-4995del (n.956-4998_956-4995del) | |
14 | g.73212128_73212129insG | CA2802117672 | PSEN1 | c.1117+186_1117+187insG (n.1117+186_1117+187insG) c.1129+186_1129+187insG (n.1129+186_1129+187insG) n.1879+186_1879+187insG c.*84+186_*84+187insG (n.*84+186_*84+187insG) n.1555+186_1555+187insG c.1009+186_1009+187insG (n.1009+186_1009+187insG) c.*1073+186_*1073+187insG (n.*1073+186_*1073+187insG) n.6679+186_6679+187insG c.*1341+186_*1341+187insG (n.*1341+186_*1341+187insG) c.944-4998_944-4997insG (n.944-4998_944-4997insG) c.1172+143_1172+144insG (n.1172+143_1172+144insG) c.*791+186_*791+187insG (n.*791+186_*791+187insG) c.*687+186_*687+187insG (n.*687+186_*687+187insG) c.1030+186_1030+187insG (n.1030+186_1030+187insG) c.*1218+186_*1218+187insG (n.*1218+186_*1218+187insG) c.880+186_880+187insG (n.880+186_880+187insG) c.*1068+186_*1068+187insG (n.*1068+186_*1068+187insG) c.*909+186_*909+187insG (n.*909+186_*909+187insG) c.*569+186_*569+187insG (n.*569+186_*569+187insG) c.1156+186_1156+187insG (n.1156+186_1156+187insG) c.*597+186_*597+187insG (n.*597+186_*597+187insG) n.1527+186_1527+187insG n.2840+186_2840+187insG n.340+186_340+187insG n.2128+186_2128+187insG n.1264+186_1264+187insG c.1018+186_1018+187insG (n.1018+186_1018+187insG) c.853+186_853+187insG (n.853+186_853+187insG) c.1221+186_1221+187insG (n.1221+186_1221+187insG) c.1209+186_1209+187insG (n.1209+186_1209+187insG) n.494+186_494+187insG c.956-4998_956-4997insG (n.956-4998_956-4997insG) | |
14 | g.73212128_73212129insGAAAG | CA2802117673 | PSEN1 | c.1117+186_1117+187insGAAAG (n.1117+186_1117+187insGAAAG) c.1129+186_1129+187insGAAAG (n.1129+186_1129+187insGAAAG) n.1879+186_1879+187insGAAAG c.*84+186_*84+187insGAAAG (n.*84+186_*84+187insGAAAG) n.1555+186_1555+187insGAAAG c.1009+186_1009+187insGAAAG (n.1009+186_1009+187insGAAAG) c.*1073+186_*1073+187insGAAAG (n.*1073+186_*1073+187insGAAAG) n.6679+186_6679+187insGAAAG c.*1341+186_*1341+187insGAAAG (n.*1341+186_*1341+187insGAAAG) c.944-4998_944-4997insGAAAG (n.944-4998_944-4997insGAAAG) c.1172+143_1172+144insGAAAG (n.1172+143_1172+144insGAAAG) c.*791+186_*791+187insGAAAG (n.*791+186_*791+187insGAAAG) c.*687+186_*687+187insGAAAG (n.*687+186_*687+187insGAAAG) c.1030+186_1030+187insGAAAG (n.1030+186_1030+187insGAAAG) c.*1218+186_*1218+187insGAAAG (n.*1218+186_*1218+187insGAAAG) c.880+186_880+187insGAAAG (n.880+186_880+187insGAAAG) c.*1068+186_*1068+187insGAAAG (n.*1068+186_*1068+187insGAAAG) c.*909+186_*909+187insGAAAG (n.*909+186_*909+187insGAAAG) c.*569+186_*569+187insGAAAG (n.*569+186_*569+187insGAAAG) c.1156+186_1156+187insGAAAG (n.1156+186_1156+187insGAAAG) c.*597+186_*597+187insGAAAG (n.*597+186_*597+187insGAAAG) n.1527+186_1527+187insGAAAG n.2840+186_2840+187insGAAAG n.340+186_340+187insGAAAG n.2128+186_2128+187insGAAAG n.1264+186_1264+187insGAAAG c.1018+186_1018+187insGAAAG (n.1018+186_1018+187insGAAAG) c.853+186_853+187insGAAAG (n.853+186_853+187insGAAAG) c.1221+186_1221+187insGAAAG (n.1221+186_1221+187insGAAAG) c.1209+186_1209+187insGAAAG (n.1209+186_1209+187insGAAAG) n.494+186_494+187insGAAAG c.956-4998_956-4997insGAAAG (n.956-4998_956-4997insGAAAG) | |
14 | g.73212128_73212129insAAATATTG | CA2802117671 | PSEN1 | c.1117+186_1117+187insAAATATTG (n.1117+186_1117+187insAAATATTG) c.1129+186_1129+187insAAATATTG (n.1129+186_1129+187insAAATATTG) n.1879+186_1879+187insAAATATTG c.*84+186_*84+187insAAATATTG (n.*84+186_*84+187insAAATATTG) n.1555+186_1555+187insAAATATTG c.1009+186_1009+187insAAATATTG (n.1009+186_1009+187insAAATATTG) c.*1073+186_*1073+187insAAATATTG (n.*1073+186_*1073+187insAAATATTG) n.6679+186_6679+187insAAATATTG c.*1341+186_*1341+187insAAATATTG (n.*1341+186_*1341+187insAAATATTG) c.944-4998_944-4997insAAATATTG (n.944-4998_944-4997insAAATATTG) c.1172+143_1172+144insAAATATTG (n.1172+143_1172+144insAAATATTG) c.*791+186_*791+187insAAATATTG (n.*791+186_*791+187insAAATATTG) c.*687+186_*687+187insAAATATTG (n.*687+186_*687+187insAAATATTG) c.1030+186_1030+187insAAATATTG (n.1030+186_1030+187insAAATATTG) c.*1218+186_*1218+187insAAATATTG (n.*1218+186_*1218+187insAAATATTG) c.880+186_880+187insAAATATTG (n.880+186_880+187insAAATATTG) c.*1068+186_*1068+187insAAATATTG (n.*1068+186_*1068+187insAAATATTG) c.*909+186_*909+187insAAATATTG (n.*909+186_*909+187insAAATATTG) c.*569+186_*569+187insAAATATTG (n.*569+186_*569+187insAAATATTG) c.1156+186_1156+187insAAATATTG (n.1156+186_1156+187insAAATATTG) c.*597+186_*597+187insAAATATTG (n.*597+186_*597+187insAAATATTG) n.1527+186_1527+187insAAATATTG n.2840+186_2840+187insAAATATTG n.340+186_340+187insAAATATTG n.2128+186_2128+187insAAATATTG n.1264+186_1264+187insAAATATTG c.1018+186_1018+187insAAATATTG (n.1018+186_1018+187insAAATATTG) c.853+186_853+187insAAATATTG (n.853+186_853+187insAAATATTG) c.1221+186_1221+187insAAATATTG (n.1221+186_1221+187insAAATATTG) c.1209+186_1209+187insAAATATTG (n.1209+186_1209+187insAAATATTG) n.494+186_494+187insAAATATTG c.956-4998_956-4997insAAATATTG (n.956-4998_956-4997insAAATATTG) | |
14 | g.73212129T>A | CA2802117679 | PSEN1 | c.1117+187T>A (n.1117+187T>A) c.1129+187T>A (n.1129+187T>A) n.1879+187T>A c.*84+187T>A (n.*84+187T>A) n.1555+187T>A c.1009+187T>A (n.1009+187T>A) c.*1073+187T>A (n.*1073+187T>A) n.6679+187T>A c.*1341+187T>A (n.*1341+187T>A) c.944-4997T>A (n.944-4997T>A) c.1172+144T>A (n.1172+144T>A) c.*791+187T>A (n.*791+187T>A) c.*687+187T>A (n.*687+187T>A) c.1030+187T>A (n.1030+187T>A) c.*1218+187T>A (n.*1218+187T>A) c.880+187T>A (n.880+187T>A) c.*1068+187T>A (n.*1068+187T>A) c.*909+187T>A (n.*909+187T>A) c.*569+187T>A (n.*569+187T>A) c.1156+187T>A (n.1156+187T>A) c.*597+187T>A (n.*597+187T>A) n.1527+187T>A n.2840+187T>A n.340+187T>A n.2128+187T>A n.1264+187T>A c.1018+187T>A (n.1018+187T>A) c.853+187T>A (n.853+187T>A) c.1221+187T>A (n.1221+187T>A) c.1209+187T>A (n.1209+187T>A) n.494+187T>A c.956-4997T>A (n.956-4997T>A) | |
14 | g.73212129T>G | CA708388964 | PSEN1 | c.1117+187T>G (n.1117+187T>G) c.1129+187T>G (n.1129+187T>G) n.1879+187T>G c.*84+187T>G (n.*84+187T>G) n.1555+187T>G c.1009+187T>G (n.1009+187T>G) c.*1073+187T>G (n.*1073+187T>G) n.6679+187T>G c.*1341+187T>G (n.*1341+187T>G) c.944-4997T>G (n.944-4997T>G) c.1172+144T>G (n.1172+144T>G) c.*791+187T>G (n.*791+187T>G) c.*687+187T>G (n.*687+187T>G) c.1030+187T>G (n.1030+187T>G) c.*1218+187T>G (n.*1218+187T>G) c.880+187T>G (n.880+187T>G) c.*1068+187T>G (n.*1068+187T>G) c.*909+187T>G (n.*909+187T>G) c.*569+187T>G (n.*569+187T>G) c.1156+187T>G (n.1156+187T>G) c.*597+187T>G (n.*597+187T>G) n.1527+187T>G n.2840+187T>G n.340+187T>G n.2128+187T>G n.1264+187T>G c.1018+187T>G (n.1018+187T>G) c.853+187T>G (n.853+187T>G) c.1221+187T>G (n.1221+187T>G) c.1209+187T>G (n.1209+187T>G) n.494+187T>G c.956-4997T>G (n.956-4997T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212129T= | CA2146495603 | PSEN1 | c.1117+187T= (n.1117+187T=) c.1129+187T= (n.1129+187T=) n.1879+187T= c.*84+187T= (n.*84+187T=) n.1555+187T= c.1009+187T= (n.1009+187T=) c.*1073+187T= (n.*1073+187T=) n.6679+187T= c.*1341+187T= (n.*1341+187T=) c.944-4997T= (n.944-4997T=) c.1172+144T= (n.1172+144T=) c.*791+187T= (n.*791+187T=) c.*687+187T= (n.*687+187T=) c.1030+187T= (n.1030+187T=) c.*1218+187T= (n.*1218+187T=) c.880+187T= (n.880+187T=) c.*1068+187T= (n.*1068+187T=) c.*909+187T= (n.*909+187T=) c.*569+187T= (n.*569+187T=) c.1156+187T= (n.1156+187T=) c.*597+187T= (n.*597+187T=) n.1527+187T= n.2840+187T= n.340+187T= n.2128+187T= n.1264+187T= c.1018+187T= (n.1018+187T=) c.853+187T= (n.853+187T=) c.1221+187T= (n.1221+187T=) c.1209+187T= (n.1209+187T=) n.494+187T= c.956-4997T= (n.956-4997T=) | |
14 | g.73212129_73212130del | CA2802117674 | PSEN1 | c.1117+187_1117+188del (n.1117+187_1117+188del) c.1129+187_1129+188del (n.1129+187_1129+188del) n.1879+187_1879+188del c.*84+187_*84+188del (n.*84+187_*84+188del) n.1555+187_1555+188del c.1009+187_1009+188del (n.1009+187_1009+188del) c.*1073+187_*1073+188del (n.*1073+187_*1073+188del) n.6679+187_6679+188del c.*1341+187_*1341+188del (n.*1341+187_*1341+188del) c.944-4997_944-4996del (n.944-4997_944-4996del) c.1172+144_1172+145del (n.1172+144_1172+145del) c.*791+187_*791+188del (n.*791+187_*791+188del) c.*687+187_*687+188del (n.*687+187_*687+188del) c.1030+187_1030+188del (n.1030+187_1030+188del) c.*1218+187_*1218+188del (n.*1218+187_*1218+188del) c.880+187_880+188del (n.880+187_880+188del) c.*1068+187_*1068+188del (n.*1068+187_*1068+188del) c.*909+187_*909+188del (n.*909+187_*909+188del) c.*569+187_*569+188del (n.*569+187_*569+188del) c.1156+187_1156+188del (n.1156+187_1156+188del) c.*597+187_*597+188del (n.*597+187_*597+188del) n.1527+187_1527+188del n.2840+187_2840+188del n.340+187_340+188del n.2128+187_2128+188del n.1264+187_1264+188del c.1018+187_1018+188del (n.1018+187_1018+188del) c.853+187_853+188del (n.853+187_853+188del) c.1221+187_1221+188del (n.1221+187_1221+188del) c.1209+187_1209+188del (n.1209+187_1209+188del) n.494+187_494+188del c.956-4997_956-4996del (n.956-4997_956-4996del) | |
14 | g.73212129_73212131del | CA2802117675 | PSEN1 | c.1117+187_1117+189del (n.1117+187_1117+189del) c.1129+187_1129+189del (n.1129+187_1129+189del) n.1879+187_1879+189del c.*84+187_*84+189del (n.*84+187_*84+189del) n.1555+187_1555+189del c.1009+187_1009+189del (n.1009+187_1009+189del) c.*1073+187_*1073+189del (n.*1073+187_*1073+189del) n.6679+187_6679+189del c.*1341+187_*1341+189del (n.*1341+187_*1341+189del) c.944-4997_944-4995del (n.944-4997_944-4995del) c.1172+144_1172+146del (n.1172+144_1172+146del) c.*791+187_*791+189del (n.*791+187_*791+189del) c.*687+187_*687+189del (n.*687+187_*687+189del) c.1030+187_1030+189del (n.1030+187_1030+189del) c.*1218+187_*1218+189del (n.*1218+187_*1218+189del) c.880+187_880+189del (n.880+187_880+189del) c.*1068+187_*1068+189del (n.*1068+187_*1068+189del) c.*909+187_*909+189del (n.*909+187_*909+189del) c.*569+187_*569+189del (n.*569+187_*569+189del) c.1156+187_1156+189del (n.1156+187_1156+189del) c.*597+187_*597+189del (n.*597+187_*597+189del) n.1527+187_1527+189del n.2840+187_2840+189del n.340+187_340+189del n.2128+187_2128+189del n.1264+187_1264+189del c.1018+187_1018+189del (n.1018+187_1018+189del) c.853+187_853+189del (n.853+187_853+189del) c.1221+187_1221+189del (n.1221+187_1221+189del) c.1209+187_1209+189del (n.1209+187_1209+189del) n.494+187_494+189del c.956-4997_956-4995del (n.956-4997_956-4995del) | |
14 | g.73212129_73212132del | CA2802117677 | PSEN1 | c.1117+187_1117+190del (n.1117+187_1117+190del) c.1129+187_1129+190del (n.1129+187_1129+190del) n.1879+187_1879+190del c.*84+187_*84+190del (n.*84+187_*84+190del) n.1555+187_1555+190del c.1009+187_1009+190del (n.1009+187_1009+190del) c.*1073+187_*1073+190del (n.*1073+187_*1073+190del) n.6679+187_6679+190del c.*1341+187_*1341+190del (n.*1341+187_*1341+190del) c.944-4997_944-4994del (n.944-4997_944-4994del) c.1172+144_1172+147del (n.1172+144_1172+147del) c.*791+187_*791+190del (n.*791+187_*791+190del) c.*687+187_*687+190del (n.*687+187_*687+190del) c.1030+187_1030+190del (n.1030+187_1030+190del) c.*1218+187_*1218+190del (n.*1218+187_*1218+190del) c.880+187_880+190del (n.880+187_880+190del) c.*1068+187_*1068+190del (n.*1068+187_*1068+190del) c.*909+187_*909+190del (n.*909+187_*909+190del) c.*569+187_*569+190del (n.*569+187_*569+190del) c.1156+187_1156+190del (n.1156+187_1156+190del) c.*597+187_*597+190del (n.*597+187_*597+190del) n.1527+187_1527+190del n.2840+187_2840+190del n.340+187_340+190del n.2128+187_2128+190del n.1264+187_1264+190del c.1018+187_1018+190del (n.1018+187_1018+190del) c.853+187_853+190del (n.853+187_853+190del) c.1221+187_1221+190del (n.1221+187_1221+190del) c.1209+187_1209+190del (n.1209+187_1209+190del) n.494+187_494+190del c.956-4997_956-4994del (n.956-4997_956-4994del) | |
14 | g.73212129_73212134del | CA2802117678 | PSEN1 | c.1117+187_1117+192del (n.1117+187_1117+192del) c.1129+187_1129+192del (n.1129+187_1129+192del) n.1879+187_1879+192del c.*84+187_*84+192del (n.*84+187_*84+192del) n.1555+187_1555+192del c.1009+187_1009+192del (n.1009+187_1009+192del) c.*1073+187_*1073+192del (n.*1073+187_*1073+192del) n.6679+187_6679+192del c.*1341+187_*1341+192del (n.*1341+187_*1341+192del) c.944-4997_944-4992del (n.944-4997_944-4992del) c.1172+144_1172+149del (n.1172+144_1172+149del) c.*791+187_*791+192del (n.*791+187_*791+192del) c.*687+187_*687+192del (n.*687+187_*687+192del) c.1030+187_1030+192del (n.1030+187_1030+192del) c.*1218+187_*1218+192del (n.*1218+187_*1218+192del) c.880+187_880+192del (n.880+187_880+192del) c.*1068+187_*1068+192del (n.*1068+187_*1068+192del) c.*909+187_*909+192del (n.*909+187_*909+192del) c.*569+187_*569+192del (n.*569+187_*569+192del) c.1156+187_1156+192del (n.1156+187_1156+192del) c.*597+187_*597+192del (n.*597+187_*597+192del) n.1527+187_1527+192del n.2840+187_2840+192del n.340+187_340+192del n.2128+187_2128+192del n.1264+187_1264+192del c.1018+187_1018+192del (n.1018+187_1018+192del) c.853+187_853+192del (n.853+187_853+192del) c.1221+187_1221+192del (n.1221+187_1221+192del) c.1209+187_1209+192del (n.1209+187_1209+192del) n.494+187_494+192del c.956-4997_956-4992del (n.956-4997_956-4992del) | |
14 | g.73212129_73212140delinsTGAGACAGAGTC | CA2146495602 | PSEN1 | c.1117+187_1117+198delinsTGAGACAGAGTC (n.1117+187_1117+198delinsTGAGACAGAGTC) c.1129+187_1129+198delinsTGAGACAGAGTC (n.1129+187_1129+198delinsTGAGACAGAGTC) n.1879+187_1879+198delinsTGAGACAGAGTC c.*84+187_*84+198delinsTGAGACAGAGTC (n.*84+187_*84+198delinsTGAGACAGAGTC) n.1555+187_1555+198delinsTGAGACAGAGTC c.1009+187_1009+198delinsTGAGACAGAGTC (n.1009+187_1009+198delinsTGAGACAGAGTC) c.*1073+187_*1073+198delinsTGAGACAGAGTC (n.*1073+187_*1073+198delinsTGAGACAGAGTC) n.6679+187_6679+198delinsTGAGACAGAGTC c.*1341+187_*1341+198delinsTGAGACAGAGTC (n.*1341+187_*1341+198delinsTGAGACAGAGTC) c.944-4997_944-4986delinsTGAGACAGAGTC (n.944-4997_944-4986delinsTGAGACAGAGTC) c.1172+144_1172+155delinsTGAGACAGAGTC (n.1172+144_1172+155delinsTGAGACAGAGTC) c.*791+187_*791+198delinsTGAGACAGAGTC (n.*791+187_*791+198delinsTGAGACAGAGTC) c.*687+187_*687+198delinsTGAGACAGAGTC (n.*687+187_*687+198delinsTGAGACAGAGTC) c.1030+187_1030+198delinsTGAGACAGAGTC (n.1030+187_1030+198delinsTGAGACAGAGTC) c.*1218+187_*1218+198delinsTGAGACAGAGTC (n.*1218+187_*1218+198delinsTGAGACAGAGTC) c.880+187_880+198delinsTGAGACAGAGTC (n.880+187_880+198delinsTGAGACAGAGTC) c.*1068+187_*1068+198delinsTGAGACAGAGTC (n.*1068+187_*1068+198delinsTGAGACAGAGTC) c.*909+187_*909+198delinsTGAGACAGAGTC (n.*909+187_*909+198delinsTGAGACAGAGTC) c.*569+187_*569+198delinsTGAGACAGAGTC (n.*569+187_*569+198delinsTGAGACAGAGTC) c.1156+187_1156+198delinsTGAGACAGAGTC (n.1156+187_1156+198delinsTGAGACAGAGTC) c.*597+187_*597+198delinsTGAGACAGAGTC (n.*597+187_*597+198delinsTGAGACAGAGTC) n.1527+187_1527+198delinsTGAGACAGAGTC n.2840+187_2840+198delinsTGAGACAGAGTC n.340+187_340+198delinsTGAGACAGAGTC n.2128+187_2128+198delinsTGAGACAGAGTC n.1264+187_1264+198delinsTGAGACAGAGTC c.1018+187_1018+198delinsTGAGACAGAGTC (n.1018+187_1018+198delinsTGAGACAGAGTC) c.853+187_853+198delinsTGAGACAGAGTC (n.853+187_853+198delinsTGAGACAGAGTC) c.1221+187_1221+198delinsTGAGACAGAGTC (n.1221+187_1221+198delinsTGAGACAGAGTC) c.1209+187_1209+198delinsTGAGACAGAGTC (n.1209+187_1209+198delinsTGAGACAGAGTC) n.494+187_494+198delinsTGAGACAGAGTC c.956-4997_956-4986delinsTGAGACAGAGTC (n.956-4997_956-4986delinsTGAGACAGAGTC) | |
14 | g.73212129_73212130insTTTA | CA2802117691 | PSEN1 | c.1117+187_1117+188insTTTA (n.1117+187_1117+188insTTTA) c.1129+187_1129+188insTTTA (n.1129+187_1129+188insTTTA) n.1879+187_1879+188insTTTA c.*84+187_*84+188insTTTA (n.*84+187_*84+188insTTTA) n.1555+187_1555+188insTTTA c.1009+187_1009+188insTTTA (n.1009+187_1009+188insTTTA) c.*1073+187_*1073+188insTTTA (n.*1073+187_*1073+188insTTTA) n.6679+187_6679+188insTTTA c.*1341+187_*1341+188insTTTA (n.*1341+187_*1341+188insTTTA) c.944-4997_944-4996insTTTA (n.944-4997_944-4996insTTTA) c.1172+144_1172+145insTTTA (n.1172+144_1172+145insTTTA) c.*791+187_*791+188insTTTA (n.*791+187_*791+188insTTTA) c.*687+187_*687+188insTTTA (n.*687+187_*687+188insTTTA) c.1030+187_1030+188insTTTA (n.1030+187_1030+188insTTTA) c.*1218+187_*1218+188insTTTA (n.*1218+187_*1218+188insTTTA) c.880+187_880+188insTTTA (n.880+187_880+188insTTTA) c.*1068+187_*1068+188insTTTA (n.*1068+187_*1068+188insTTTA) c.*909+187_*909+188insTTTA (n.*909+187_*909+188insTTTA) c.*569+187_*569+188insTTTA (n.*569+187_*569+188insTTTA) c.1156+187_1156+188insTTTA (n.1156+187_1156+188insTTTA) c.*597+187_*597+188insTTTA (n.*597+187_*597+188insTTTA) n.1527+187_1527+188insTTTA n.2840+187_2840+188insTTTA n.340+187_340+188insTTTA n.2128+187_2128+188insTTTA n.1264+187_1264+188insTTTA c.1018+187_1018+188insTTTA (n.1018+187_1018+188insTTTA) c.853+187_853+188insTTTA (n.853+187_853+188insTTTA) c.1221+187_1221+188insTTTA (n.1221+187_1221+188insTTTA) c.1209+187_1209+188insTTTA (n.1209+187_1209+188insTTTA) n.494+187_494+188insTTTA c.956-4997_956-4996insTTTA (n.956-4997_956-4996insTTTA) | |
14 | g.73212129_73212130insTTTAA | CA2595750874 | PSEN1 | c.1117+187_1117+188insTTTAA (n.1117+187_1117+188insTTTAA) c.1129+187_1129+188insTTTAA (n.1129+187_1129+188insTTTAA) n.1879+187_1879+188insTTTAA c.*84+187_*84+188insTTTAA (n.*84+187_*84+188insTTTAA) n.1555+187_1555+188insTTTAA c.1009+187_1009+188insTTTAA (n.1009+187_1009+188insTTTAA) c.*1073+187_*1073+188insTTTAA (n.*1073+187_*1073+188insTTTAA) n.6679+187_6679+188insTTTAA c.*1341+187_*1341+188insTTTAA (n.*1341+187_*1341+188insTTTAA) c.944-4997_944-4996insTTTAA (n.944-4997_944-4996insTTTAA) c.1172+144_1172+145insTTTAA (n.1172+144_1172+145insTTTAA) c.*791+187_*791+188insTTTAA (n.*791+187_*791+188insTTTAA) c.*687+187_*687+188insTTTAA (n.*687+187_*687+188insTTTAA) c.1030+187_1030+188insTTTAA (n.1030+187_1030+188insTTTAA) c.*1218+187_*1218+188insTTTAA (n.*1218+187_*1218+188insTTTAA) c.880+187_880+188insTTTAA (n.880+187_880+188insTTTAA) c.*1068+187_*1068+188insTTTAA (n.*1068+187_*1068+188insTTTAA) c.*909+187_*909+188insTTTAA (n.*909+187_*909+188insTTTAA) c.*569+187_*569+188insTTTAA (n.*569+187_*569+188insTTTAA) c.1156+187_1156+188insTTTAA (n.1156+187_1156+188insTTTAA) c.*597+187_*597+188insTTTAA (n.*597+187_*597+188insTTTAA) n.1527+187_1527+188insTTTAA n.2840+187_2840+188insTTTAA n.340+187_340+188insTTTAA n.2128+187_2128+188insTTTAA n.1264+187_1264+188insTTTAA c.1018+187_1018+188insTTTAA (n.1018+187_1018+188insTTTAA) c.853+187_853+188insTTTAA (n.853+187_853+188insTTTAA) c.1221+187_1221+188insTTTAA (n.1221+187_1221+188insTTTAA) c.1209+187_1209+188insTTTAA (n.1209+187_1209+188insTTTAA) n.494+187_494+188insTTTAA c.956-4997_956-4996insTTTAA (n.956-4997_956-4996insTTTAA) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTAAA | CA2802117692 | PSEN1 | c.1117+187_1117+188insTTTAAA (n.1117+187_1117+188insTTTAAA) c.1129+187_1129+188insTTTAAA (n.1129+187_1129+188insTTTAAA) n.1879+187_1879+188insTTTAAA c.*84+187_*84+188insTTTAAA (n.*84+187_*84+188insTTTAAA) n.1555+187_1555+188insTTTAAA c.1009+187_1009+188insTTTAAA (n.1009+187_1009+188insTTTAAA) c.*1073+187_*1073+188insTTTAAA (n.*1073+187_*1073+188insTTTAAA) n.6679+187_6679+188insTTTAAA c.*1341+187_*1341+188insTTTAAA (n.*1341+187_*1341+188insTTTAAA) c.944-4997_944-4996insTTTAAA (n.944-4997_944-4996insTTTAAA) c.1172+144_1172+145insTTTAAA (n.1172+144_1172+145insTTTAAA) c.*791+187_*791+188insTTTAAA (n.*791+187_*791+188insTTTAAA) c.*687+187_*687+188insTTTAAA (n.*687+187_*687+188insTTTAAA) c.1030+187_1030+188insTTTAAA (n.1030+187_1030+188insTTTAAA) c.*1218+187_*1218+188insTTTAAA (n.*1218+187_*1218+188insTTTAAA) c.880+187_880+188insTTTAAA (n.880+187_880+188insTTTAAA) c.*1068+187_*1068+188insTTTAAA (n.*1068+187_*1068+188insTTTAAA) c.*909+187_*909+188insTTTAAA (n.*909+187_*909+188insTTTAAA) c.*569+187_*569+188insTTTAAA (n.*569+187_*569+188insTTTAAA) c.1156+187_1156+188insTTTAAA (n.1156+187_1156+188insTTTAAA) c.*597+187_*597+188insTTTAAA (n.*597+187_*597+188insTTTAAA) n.1527+187_1527+188insTTTAAA n.2840+187_2840+188insTTTAAA n.340+187_340+188insTTTAAA n.2128+187_2128+188insTTTAAA n.1264+187_1264+188insTTTAAA c.1018+187_1018+188insTTTAAA (n.1018+187_1018+188insTTTAAA) c.853+187_853+188insTTTAAA (n.853+187_853+188insTTTAAA) c.1221+187_1221+188insTTTAAA (n.1221+187_1221+188insTTTAAA) c.1209+187_1209+188insTTTAAA (n.1209+187_1209+188insTTTAAA) n.494+187_494+188insTTTAAA c.956-4997_956-4996insTTTAAA (n.956-4997_956-4996insTTTAAA) | |
14 | g.73212129_73212130insTTTTAA | CA2595750875 | PSEN1 | c.1117+187_1117+188insTTTTAA (n.1117+187_1117+188insTTTTAA) c.1129+187_1129+188insTTTTAA (n.1129+187_1129+188insTTTTAA) n.1879+187_1879+188insTTTTAA c.*84+187_*84+188insTTTTAA (n.*84+187_*84+188insTTTTAA) n.1555+187_1555+188insTTTTAA c.1009+187_1009+188insTTTTAA (n.1009+187_1009+188insTTTTAA) c.*1073+187_*1073+188insTTTTAA (n.*1073+187_*1073+188insTTTTAA) n.6679+187_6679+188insTTTTAA c.*1341+187_*1341+188insTTTTAA (n.*1341+187_*1341+188insTTTTAA) c.944-4997_944-4996insTTTTAA (n.944-4997_944-4996insTTTTAA) c.1172+144_1172+145insTTTTAA (n.1172+144_1172+145insTTTTAA) c.*791+187_*791+188insTTTTAA (n.*791+187_*791+188insTTTTAA) c.*687+187_*687+188insTTTTAA (n.*687+187_*687+188insTTTTAA) c.1030+187_1030+188insTTTTAA (n.1030+187_1030+188insTTTTAA) c.*1218+187_*1218+188insTTTTAA (n.*1218+187_*1218+188insTTTTAA) c.880+187_880+188insTTTTAA (n.880+187_880+188insTTTTAA) c.*1068+187_*1068+188insTTTTAA (n.*1068+187_*1068+188insTTTTAA) c.*909+187_*909+188insTTTTAA (n.*909+187_*909+188insTTTTAA) c.*569+187_*569+188insTTTTAA (n.*569+187_*569+188insTTTTAA) c.1156+187_1156+188insTTTTAA (n.1156+187_1156+188insTTTTAA) c.*597+187_*597+188insTTTTAA (n.*597+187_*597+188insTTTTAA) n.1527+187_1527+188insTTTTAA n.2840+187_2840+188insTTTTAA n.340+187_340+188insTTTTAA n.2128+187_2128+188insTTTTAA n.1264+187_1264+188insTTTTAA c.1018+187_1018+188insTTTTAA (n.1018+187_1018+188insTTTTAA) c.853+187_853+188insTTTTAA (n.853+187_853+188insTTTTAA) c.1221+187_1221+188insTTTTAA (n.1221+187_1221+188insTTTTAA) c.1209+187_1209+188insTTTTAA (n.1209+187_1209+188insTTTTAA) n.494+187_494+188insTTTTAA c.956-4997_956-4996insTTTTAA (n.956-4997_956-4996insTTTTAA) | gnomAD v3 gnomAD v4 |
14 | g.73212129_73212130insTTTGAAA | CA2802117693 | PSEN1 | c.1117+187_1117+188insTTTGAAA (n.1117+187_1117+188insTTTGAAA) c.1129+187_1129+188insTTTGAAA (n.1129+187_1129+188insTTTGAAA) n.1879+187_1879+188insTTTGAAA c.*84+187_*84+188insTTTGAAA (n.*84+187_*84+188insTTTGAAA) n.1555+187_1555+188insTTTGAAA c.1009+187_1009+188insTTTGAAA (n.1009+187_1009+188insTTTGAAA) c.*1073+187_*1073+188insTTTGAAA (n.*1073+187_*1073+188insTTTGAAA) n.6679+187_6679+188insTTTGAAA c.*1341+187_*1341+188insTTTGAAA (n.*1341+187_*1341+188insTTTGAAA) c.944-4997_944-4996insTTTGAAA (n.944-4997_944-4996insTTTGAAA) c.1172+144_1172+145insTTTGAAA (n.1172+144_1172+145insTTTGAAA) c.*791+187_*791+188insTTTGAAA (n.*791+187_*791+188insTTTGAAA) c.*687+187_*687+188insTTTGAAA (n.*687+187_*687+188insTTTGAAA) c.1030+187_1030+188insTTTGAAA (n.1030+187_1030+188insTTTGAAA) c.*1218+187_*1218+188insTTTGAAA (n.*1218+187_*1218+188insTTTGAAA) c.880+187_880+188insTTTGAAA (n.880+187_880+188insTTTGAAA) c.*1068+187_*1068+188insTTTGAAA (n.*1068+187_*1068+188insTTTGAAA) c.*909+187_*909+188insTTTGAAA (n.*909+187_*909+188insTTTGAAA) c.*569+187_*569+188insTTTGAAA (n.*569+187_*569+188insTTTGAAA) c.1156+187_1156+188insTTTGAAA (n.1156+187_1156+188insTTTGAAA) c.*597+187_*597+188insTTTGAAA (n.*597+187_*597+188insTTTGAAA) n.1527+187_1527+188insTTTGAAA n.2840+187_2840+188insTTTGAAA n.340+187_340+188insTTTGAAA n.2128+187_2128+188insTTTGAAA n.1264+187_1264+188insTTTGAAA c.1018+187_1018+188insTTTGAAA (n.1018+187_1018+188insTTTGAAA) c.853+187_853+188insTTTGAAA (n.853+187_853+188insTTTGAAA) c.1221+187_1221+188insTTTGAAA (n.1221+187_1221+188insTTTGAAA) c.1209+187_1209+188insTTTGAAA (n.1209+187_1209+188insTTTGAAA) n.494+187_494+188insTTTGAAA c.956-4997_956-4996insTTTGAAA (n.956-4997_956-4996insTTTGAAA) | |
14 | g.73212129_73212130insTTTTTTAA | CA2802117689 | PSEN1 | c.1117+187_1117+188insTTTTTTAA (n.1117+187_1117+188insTTTTTTAA) c.1129+187_1129+188insTTTTTTAA (n.1129+187_1129+188insTTTTTTAA) n.1879+187_1879+188insTTTTTTAA c.*84+187_*84+188insTTTTTTAA (n.*84+187_*84+188insTTTTTTAA) n.1555+187_1555+188insTTTTTTAA c.1009+187_1009+188insTTTTTTAA (n.1009+187_1009+188insTTTTTTAA) c.*1073+187_*1073+188insTTTTTTAA (n.*1073+187_*1073+188insTTTTTTAA) n.6679+187_6679+188insTTTTTTAA c.*1341+187_*1341+188insTTTTTTAA (n.*1341+187_*1341+188insTTTTTTAA) c.944-4997_944-4996insTTTTTTAA (n.944-4997_944-4996insTTTTTTAA) c.1172+144_1172+145insTTTTTTAA (n.1172+144_1172+145insTTTTTTAA) c.*791+187_*791+188insTTTTTTAA (n.*791+187_*791+188insTTTTTTAA) c.*687+187_*687+188insTTTTTTAA (n.*687+187_*687+188insTTTTTTAA) c.1030+187_1030+188insTTTTTTAA (n.1030+187_1030+188insTTTTTTAA) c.*1218+187_*1218+188insTTTTTTAA (n.*1218+187_*1218+188insTTTTTTAA) c.880+187_880+188insTTTTTTAA (n.880+187_880+188insTTTTTTAA) c.*1068+187_*1068+188insTTTTTTAA (n.*1068+187_*1068+188insTTTTTTAA) c.*909+187_*909+188insTTTTTTAA (n.*909+187_*909+188insTTTTTTAA) c.*569+187_*569+188insTTTTTTAA (n.*569+187_*569+188insTTTTTTAA) c.1156+187_1156+188insTTTTTTAA (n.1156+187_1156+188insTTTTTTAA) c.*597+187_*597+188insTTTTTTAA (n.*597+187_*597+188insTTTTTTAA) n.1527+187_1527+188insTTTTTTAA n.2840+187_2840+188insTTTTTTAA n.340+187_340+188insTTTTTTAA n.2128+187_2128+188insTTTTTTAA n.1264+187_1264+188insTTTTTTAA c.1018+187_1018+188insTTTTTTAA (n.1018+187_1018+188insTTTTTTAA) c.853+187_853+188insTTTTTTAA (n.853+187_853+188insTTTTTTAA) c.1221+187_1221+188insTTTTTTAA (n.1221+187_1221+188insTTTTTTAA) c.1209+187_1209+188insTTTTTTAA (n.1209+187_1209+188insTTTTTTAA) n.494+187_494+188insTTTTTTAA c.956-4997_956-4996insTTTTTTAA (n.956-4997_956-4996insTTTTTTAA) | |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTAA | CA2802117690 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTAA (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTAA) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTAA (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTAA) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTAA c.*84+187_*84+188insTTTTTTTTTTTTTTTTTAA (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTAA) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTAA c.1009+187_1009+188insTTTTTTTTTTTTTTTTTAA (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTAA) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTAA (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTAA) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTAA c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTAA (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTAA) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTAA (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTAA) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTAA (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTAA) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTAA (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTAA) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTAA (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTAA) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTAA (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTAA) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTAA (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTAA) c.880+187_880+188insTTTTTTTTTTTTTTTTTAA (n.880+187_880+188insTTTTTTTTTTTTTTTTTAA) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTAA (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTAA) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTAA (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTAA) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTAA (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTAA) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTAA (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTAA) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTAA (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTAA) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTAA n.2840+187_2840+188insTTTTTTTTTTTTTTTTTAA n.340+187_340+188insTTTTTTTTTTTTTTTTTAA n.2128+187_2128+188insTTTTTTTTTTTTTTTTTAA n.1264+187_1264+188insTTTTTTTTTTTTTTTTTAA c.1018+187_1018+188insTTTTTTTTTTTTTTTTTAA (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTAA) c.853+187_853+188insTTTTTTTTTTTTTTTTTAA (n.853+187_853+188insTTTTTTTTTTTTTTTTTAA) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTAA (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTAA) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTAA (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTAA) n.494+187_494+188insTTTTTTTTTTTTTTTTTAA c.956-4997_956-4996insTTTTTTTTTTTTTTTTTAA (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTAA) | |
14 | g.73212129_73212130insTTTTTTTTTTTTTTTTTTTTTC | CA2802117688 | PSEN1 | c.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTC (n.1117+187_1117+188insTTTTTTTTTTTTTTTTTTTTTC) c.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTC (n.1129+187_1129+188insTTTTTTTTTTTTTTTTTTTTTC) n.1879+187_1879+188insTTTTTTTTTTTTTTTTTTTTTC c.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTC (n.*84+187_*84+188insTTTTTTTTTTTTTTTTTTTTTC) n.1555+187_1555+188insTTTTTTTTTTTTTTTTTTTTTC c.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTC (n.1009+187_1009+188insTTTTTTTTTTTTTTTTTTTTTC) c.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTC (n.*1073+187_*1073+188insTTTTTTTTTTTTTTTTTTTTTC) n.6679+187_6679+188insTTTTTTTTTTTTTTTTTTTTTC c.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTC (n.*1341+187_*1341+188insTTTTTTTTTTTTTTTTTTTTTC) c.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTC (n.944-4997_944-4996insTTTTTTTTTTTTTTTTTTTTTC) c.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTC (n.1172+144_1172+145insTTTTTTTTTTTTTTTTTTTTTC) c.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTC (n.*791+187_*791+188insTTTTTTTTTTTTTTTTTTTTTC) c.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTC (n.*687+187_*687+188insTTTTTTTTTTTTTTTTTTTTTC) c.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTC (n.1030+187_1030+188insTTTTTTTTTTTTTTTTTTTTTC) c.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTC (n.*1218+187_*1218+188insTTTTTTTTTTTTTTTTTTTTTC) c.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTC (n.880+187_880+188insTTTTTTTTTTTTTTTTTTTTTC) c.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTC (n.*1068+187_*1068+188insTTTTTTTTTTTTTTTTTTTTTC) c.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTC (n.*909+187_*909+188insTTTTTTTTTTTTTTTTTTTTTC) c.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTC (n.*569+187_*569+188insTTTTTTTTTTTTTTTTTTTTTC) c.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTC (n.1156+187_1156+188insTTTTTTTTTTTTTTTTTTTTTC) c.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTC (n.*597+187_*597+188insTTTTTTTTTTTTTTTTTTTTTC) n.1527+187_1527+188insTTTTTTTTTTTTTTTTTTTTTC n.2840+187_2840+188insTTTTTTTTTTTTTTTTTTTTTC n.340+187_340+188insTTTTTTTTTTTTTTTTTTTTTC n.2128+187_2128+188insTTTTTTTTTTTTTTTTTTTTTC n.1264+187_1264+188insTTTTTTTTTTTTTTTTTTTTTC c.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTC (n.1018+187_1018+188insTTTTTTTTTTTTTTTTTTTTTC) c.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTC (n.853+187_853+188insTTTTTTTTTTTTTTTTTTTTTC) c.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTC (n.1221+187_1221+188insTTTTTTTTTTTTTTTTTTTTTC) c.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTC (n.1209+187_1209+188insTTTTTTTTTTTTTTTTTTTTTC) n.494+187_494+188insTTTTTTTTTTTTTTTTTTTTTC c.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTC (n.956-4997_956-4996insTTTTTTTTTTTTTTTTTTTTTC) | |
14 | g.73212130del | CA2802117687 | PSEN1 | c.1117+188del (n.1117+188del) c.1129+188del (n.1129+188del) n.1879+188del c.*84+188del (n.*84+188del) n.1555+188del c.1009+188del (n.1009+188del) c.*1073+188del (n.*1073+188del) n.6679+188del c.*1341+188del (n.*1341+188del) c.944-4996del (n.944-4996del) c.1172+145del (n.1172+145del) c.*791+188del (n.*791+188del) c.*687+188del (n.*687+188del) c.1030+188del (n.1030+188del) c.*1218+188del (n.*1218+188del) c.880+188del (n.880+188del) c.*1068+188del (n.*1068+188del) c.*909+188del (n.*909+188del) c.*569+188del (n.*569+188del) c.1156+188del (n.1156+188del) c.*597+188del (n.*597+188del) n.1527+188del n.2840+188del n.340+188del n.2128+188del n.1264+188del c.1018+188del (n.1018+188del) c.853+188del (n.853+188del) c.1221+188del (n.1221+188del) c.1209+188del (n.1209+188del) n.494+188del c.956-4996del (n.956-4996del) | |
14 | g.73212130G>A | CA964615084 | PSEN1 | c.1117+188G>A (n.1117+188G>A) c.1129+188G>A (n.1129+188G>A) n.1879+188G>A c.*84+188G>A (n.*84+188G>A) n.1555+188G>A c.1009+188G>A (n.1009+188G>A) c.*1073+188G>A (n.*1073+188G>A) n.6679+188G>A c.*1341+188G>A (n.*1341+188G>A) c.944-4996G>A (n.944-4996G>A) c.1172+145G>A (n.1172+145G>A) c.*791+188G>A (n.*791+188G>A) c.*687+188G>A (n.*687+188G>A) c.1030+188G>A (n.1030+188G>A) c.*1218+188G>A (n.*1218+188G>A) c.880+188G>A (n.880+188G>A) c.*1068+188G>A (n.*1068+188G>A) c.*909+188G>A (n.*909+188G>A) c.*569+188G>A (n.*569+188G>A) c.1156+188G>A (n.1156+188G>A) c.*597+188G>A (n.*597+188G>A) n.1527+188G>A n.2840+188G>A n.340+188G>A n.2128+188G>A n.1264+188G>A c.1018+188G>A (n.1018+188G>A) c.853+188G>A (n.853+188G>A) c.1221+188G>A (n.1221+188G>A) c.1209+188G>A (n.1209+188G>A) n.494+188G>A c.956-4996G>A (n.956-4996G>A) | gnomAD v3 gnomAD v4 |
14 | g.73212130G= | CA2146495604 | PSEN1 | c.1117+188G= (n.1117+188G=) c.1129+188G= (n.1129+188G=) n.1879+188G= c.*84+188G= (n.*84+188G=) n.1555+188G= c.1009+188G= (n.1009+188G=) c.*1073+188G= (n.*1073+188G=) n.6679+188G= c.*1341+188G= (n.*1341+188G=) c.944-4996G= (n.944-4996G=) c.1172+145G= (n.1172+145G=) c.*791+188G= (n.*791+188G=) c.*687+188G= (n.*687+188G=) c.1030+188G= (n.1030+188G=) c.*1218+188G= (n.*1218+188G=) c.880+188G= (n.880+188G=) c.*1068+188G= (n.*1068+188G=) c.*909+188G= (n.*909+188G=) c.*569+188G= (n.*569+188G=) c.1156+188G= (n.1156+188G=) c.*597+188G= (n.*597+188G=) n.1527+188G= n.2840+188G= n.340+188G= n.2128+188G= n.1264+188G= c.1018+188G= (n.1018+188G=) c.853+188G= (n.853+188G=) c.1221+188G= (n.1221+188G=) c.1209+188G= (n.1209+188G=) n.494+188G= c.956-4996G= (n.956-4996G=) | |
14 | g.73212130G>T | CA615000789 | PSEN1 | c.1117+188G>T (n.1117+188G>T) c.1129+188G>T (n.1129+188G>T) n.1879+188G>T c.*84+188G>T (n.*84+188G>T) n.1555+188G>T c.1009+188G>T (n.1009+188G>T) c.*1073+188G>T (n.*1073+188G>T) n.6679+188G>T c.*1341+188G>T (n.*1341+188G>T) c.944-4996G>T (n.944-4996G>T) c.1172+145G>T (n.1172+145G>T) c.*791+188G>T (n.*791+188G>T) c.*687+188G>T (n.*687+188G>T) c.1030+188G>T (n.1030+188G>T) c.*1218+188G>T (n.*1218+188G>T) c.880+188G>T (n.880+188G>T) c.*1068+188G>T (n.*1068+188G>T) c.*909+188G>T (n.*909+188G>T) c.*569+188G>T (n.*569+188G>T) c.1156+188G>T (n.1156+188G>T) c.*597+188G>T (n.*597+188G>T) n.1527+188G>T n.2840+188G>T n.340+188G>T n.2128+188G>T n.1264+188G>T c.1018+188G>T (n.1018+188G>T) c.853+188G>T (n.853+188G>T) c.1221+188G>T (n.1221+188G>T) c.1209+188G>T (n.1209+188G>T) n.494+188G>T c.956-4996G>T (n.956-4996G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212130_73212132del | CA2802117685 | PSEN1 | c.1117+188_1117+190del (n.1117+188_1117+190del) c.1129+188_1129+190del (n.1129+188_1129+190del) n.1879+188_1879+190del c.*84+188_*84+190del (n.*84+188_*84+190del) n.1555+188_1555+190del c.1009+188_1009+190del (n.1009+188_1009+190del) c.*1073+188_*1073+190del (n.*1073+188_*1073+190del) n.6679+188_6679+190del c.*1341+188_*1341+190del (n.*1341+188_*1341+190del) c.944-4996_944-4994del (n.944-4996_944-4994del) c.1172+145_1172+147del (n.1172+145_1172+147del) c.*791+188_*791+190del (n.*791+188_*791+190del) c.*687+188_*687+190del (n.*687+188_*687+190del) c.1030+188_1030+190del (n.1030+188_1030+190del) c.*1218+188_*1218+190del (n.*1218+188_*1218+190del) c.880+188_880+190del (n.880+188_880+190del) c.*1068+188_*1068+190del (n.*1068+188_*1068+190del) c.*909+188_*909+190del (n.*909+188_*909+190del) c.*569+188_*569+190del (n.*569+188_*569+190del) c.1156+188_1156+190del (n.1156+188_1156+190del) c.*597+188_*597+190del (n.*597+188_*597+190del) n.1527+188_1527+190del n.2840+188_2840+190del n.340+188_340+190del n.2128+188_2128+190del n.1264+188_1264+190del c.1018+188_1018+190del (n.1018+188_1018+190del) c.853+188_853+190del (n.853+188_853+190del) c.1221+188_1221+190del (n.1221+188_1221+190del) c.1209+188_1209+190del (n.1209+188_1209+190del) n.494+188_494+190del c.956-4996_956-4994del (n.956-4996_956-4994del) | |
14 | g.73212130_73212140del | CA262618874 | PSEN1 | c.1117+188_1117+198del (n.1117+188_1117+198del) c.1129+188_1129+198del (n.1129+188_1129+198del) n.1879+188_1879+198del c.*84+188_*84+198del (n.*84+188_*84+198del) n.1555+188_1555+198del c.1009+188_1009+198del (n.1009+188_1009+198del) c.*1073+188_*1073+198del (n.*1073+188_*1073+198del) n.6679+188_6679+198del c.*1341+188_*1341+198del (n.*1341+188_*1341+198del) c.944-4996_944-4986del (n.944-4996_944-4986del) c.1172+145_1172+155del (n.1172+145_1172+155del) c.*791+188_*791+198del (n.*791+188_*791+198del) c.*687+188_*687+198del (n.*687+188_*687+198del) c.1030+188_1030+198del (n.1030+188_1030+198del) c.*1218+188_*1218+198del (n.*1218+188_*1218+198del) c.880+188_880+198del (n.880+188_880+198del) c.*1068+188_*1068+198del (n.*1068+188_*1068+198del) c.*909+188_*909+198del (n.*909+188_*909+198del) c.*569+188_*569+198del (n.*569+188_*569+198del) c.1156+188_1156+198del (n.1156+188_1156+198del) c.*597+188_*597+198del (n.*597+188_*597+198del) n.1527+188_1527+198del n.2840+188_2840+198del n.340+188_340+198del n.2128+188_2128+198del n.1264+188_1264+198del c.1018+188_1018+198del (n.1018+188_1018+198del) c.853+188_853+198del (n.853+188_853+198del) c.1221+188_1221+198del (n.1221+188_1221+198del) c.1209+188_1209+198del (n.1209+188_1209+198del) n.494+188_494+198del c.956-4996_956-4986del (n.956-4996_956-4986del) | dbSNP |
14 | g.73212131del | CA2802117698 | PSEN1 | c.1117+189del (n.1117+189del) c.1129+189del (n.1129+189del) n.1879+189del c.*84+189del (n.*84+189del) n.1555+189del c.1009+189del (n.1009+189del) c.*1073+189del (n.*1073+189del) n.6679+189del c.*1341+189del (n.*1341+189del) c.944-4995del (n.944-4995del) c.1172+146del (n.1172+146del) c.*791+189del (n.*791+189del) c.*687+189del (n.*687+189del) c.1030+189del (n.1030+189del) c.*1218+189del (n.*1218+189del) c.880+189del (n.880+189del) c.*1068+189del (n.*1068+189del) c.*909+189del (n.*909+189del) c.*569+189del (n.*569+189del) c.1156+189del (n.1156+189del) c.*597+189del (n.*597+189del) n.1527+189del n.2840+189del n.340+189del n.2128+189del n.1264+189del c.1018+189del (n.1018+189del) c.853+189del (n.853+189del) c.1221+189del (n.1221+189del) c.1209+189del (n.1209+189del) n.494+189del c.956-4995del (n.956-4995del) | |
14 | g.73212131A>G | CA2729783392 | PSEN1 | c.1117+189A>G (n.1117+189A>G) c.1129+189A>G (n.1129+189A>G) n.1879+189A>G c.*84+189A>G (n.*84+189A>G) n.1555+189A>G c.1009+189A>G (n.1009+189A>G) c.*1073+189A>G (n.*1073+189A>G) n.6679+189A>G c.*1341+189A>G (n.*1341+189A>G) c.944-4995A>G (n.944-4995A>G) c.1172+146A>G (n.1172+146A>G) c.*791+189A>G (n.*791+189A>G) c.*687+189A>G (n.*687+189A>G) c.1030+189A>G (n.1030+189A>G) c.*1218+189A>G (n.*1218+189A>G) c.880+189A>G (n.880+189A>G) c.*1068+189A>G (n.*1068+189A>G) c.*909+189A>G (n.*909+189A>G) c.*569+189A>G (n.*569+189A>G) c.1156+189A>G (n.1156+189A>G) c.*597+189A>G (n.*597+189A>G) n.1527+189A>G n.2840+189A>G n.340+189A>G n.2128+189A>G n.1264+189A>G c.1018+189A>G (n.1018+189A>G) c.853+189A>G (n.853+189A>G) c.1221+189A>G (n.1221+189A>G) c.1209+189A>G (n.1209+189A>G) n.494+189A>G c.956-4995A>G (n.956-4995A>G) | dbSNP |
14 | g.73212131A>T | CA964615087 | PSEN1 | c.1117+189A>T (n.1117+189A>T) c.1129+189A>T (n.1129+189A>T) n.1879+189A>T c.*84+189A>T (n.*84+189A>T) n.1555+189A>T c.1009+189A>T (n.1009+189A>T) c.*1073+189A>T (n.*1073+189A>T) n.6679+189A>T c.*1341+189A>T (n.*1341+189A>T) c.944-4995A>T (n.944-4995A>T) c.1172+146A>T (n.1172+146A>T) c.*791+189A>T (n.*791+189A>T) c.*687+189A>T (n.*687+189A>T) c.1030+189A>T (n.1030+189A>T) c.*1218+189A>T (n.*1218+189A>T) c.880+189A>T (n.880+189A>T) c.*1068+189A>T (n.*1068+189A>T) c.*909+189A>T (n.*909+189A>T) c.*569+189A>T (n.*569+189A>T) c.1156+189A>T (n.1156+189A>T) c.*597+189A>T (n.*597+189A>T) n.1527+189A>T n.2840+189A>T n.340+189A>T n.2128+189A>T n.1264+189A>T c.1018+189A>T (n.1018+189A>T) c.853+189A>T (n.853+189A>T) c.1221+189A>T (n.1221+189A>T) c.1209+189A>T (n.1209+189A>T) n.494+189A>T c.956-4995A>T (n.956-4995A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212132del | CA2532677160 | PSEN1 | c.1117+190del (n.1117+190del) c.1129+190del (n.1129+190del) n.1879+190del c.*84+190del (n.*84+190del) n.1555+190del c.1009+190del (n.1009+190del) c.*1073+190del (n.*1073+190del) n.6679+190del c.*1341+190del (n.*1341+190del) c.944-4994del (n.944-4994del) c.1172+147del (n.1172+147del) c.*791+190del (n.*791+190del) c.*687+190del (n.*687+190del) c.1030+190del (n.1030+190del) c.*1218+190del (n.*1218+190del) c.880+190del (n.880+190del) c.*1068+190del (n.*1068+190del) c.*909+190del (n.*909+190del) c.*569+190del (n.*569+190del) c.1156+190del (n.1156+190del) c.*597+190del (n.*597+190del) n.1527+190del n.2840+190del n.340+190del n.2128+190del n.1264+190del c.1018+190del (n.1018+190del) c.853+190del (n.853+190del) c.1221+190del (n.1221+190del) c.1209+190del (n.1209+190del) n.494+190del c.956-4994del (n.956-4994del) | |
14 | g.73212132G>A | CA964615094 | PSEN1 | c.1117+190G>A (n.1117+190G>A) c.1129+190G>A (n.1129+190G>A) n.1879+190G>A c.*84+190G>A (n.*84+190G>A) n.1555+190G>A c.1009+190G>A (n.1009+190G>A) c.*1073+190G>A (n.*1073+190G>A) n.6679+190G>A c.*1341+190G>A (n.*1341+190G>A) c.944-4994G>A (n.944-4994G>A) c.1172+147G>A (n.1172+147G>A) c.*791+190G>A (n.*791+190G>A) c.*687+190G>A (n.*687+190G>A) c.1030+190G>A (n.1030+190G>A) c.*1218+190G>A (n.*1218+190G>A) c.880+190G>A (n.880+190G>A) c.*1068+190G>A (n.*1068+190G>A) c.*909+190G>A (n.*909+190G>A) c.*569+190G>A (n.*569+190G>A) c.1156+190G>A (n.1156+190G>A) c.*597+190G>A (n.*597+190G>A) n.1527+190G>A n.2840+190G>A n.340+190G>A n.2128+190G>A n.1264+190G>A c.1018+190G>A (n.1018+190G>A) c.853+190G>A (n.853+190G>A) c.1221+190G>A (n.1221+190G>A) c.1209+190G>A (n.1209+190G>A) n.494+190G>A c.956-4994G>A (n.956-4994G>A) | gnomAD v3 gnomAD v4 |
14 | g.73212132G>T | CA964615096 | PSEN1 | c.1117+190G>T (n.1117+190G>T) c.1129+190G>T (n.1129+190G>T) n.1879+190G>T c.*84+190G>T (n.*84+190G>T) n.1555+190G>T c.1009+190G>T (n.1009+190G>T) c.*1073+190G>T (n.*1073+190G>T) n.6679+190G>T c.*1341+190G>T (n.*1341+190G>T) c.944-4994G>T (n.944-4994G>T) c.1172+147G>T (n.1172+147G>T) c.*791+190G>T (n.*791+190G>T) c.*687+190G>T (n.*687+190G>T) c.1030+190G>T (n.1030+190G>T) c.*1218+190G>T (n.*1218+190G>T) c.880+190G>T (n.880+190G>T) c.*1068+190G>T (n.*1068+190G>T) c.*909+190G>T (n.*909+190G>T) c.*569+190G>T (n.*569+190G>T) c.1156+190G>T (n.1156+190G>T) c.*597+190G>T (n.*597+190G>T) n.1527+190G>T n.2840+190G>T n.340+190G>T n.2128+190G>T n.1264+190G>T c.1018+190G>T (n.1018+190G>T) c.853+190G>T (n.853+190G>T) c.1221+190G>T (n.1221+190G>T) c.1209+190G>T (n.1209+190G>T) n.494+190G>T c.956-4994G>T (n.956-4994G>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212133A= | CA2146495605 | PSEN1 | c.1117+191A= (n.1117+191A=) c.1129+191A= (n.1129+191A=) n.1879+191A= c.*84+191A= (n.*84+191A=) n.1555+191A= c.1009+191A= (n.1009+191A=) c.*1073+191A= (n.*1073+191A=) n.6679+191A= c.*1341+191A= (n.*1341+191A=) c.944-4993A= (n.944-4993A=) c.1172+148A= (n.1172+148A=) c.*791+191A= (n.*791+191A=) c.*687+191A= (n.*687+191A=) c.1030+191A= (n.1030+191A=) c.*1218+191A= (n.*1218+191A=) c.880+191A= (n.880+191A=) c.*1068+191A= (n.*1068+191A=) c.*909+191A= (n.*909+191A=) c.*569+191A= (n.*569+191A=) c.1156+191A= (n.1156+191A=) c.*597+191A= (n.*597+191A=) n.1527+191A= n.2840+191A= n.340+191A= n.2128+191A= n.1264+191A= c.1018+191A= (n.1018+191A=) c.853+191A= (n.853+191A=) c.1221+191A= (n.1221+191A=) c.1209+191A= (n.1209+191A=) n.494+191A= c.956-4993A= (n.956-4993A=) | |
14 | g.73212133A>C | CA2533274771 | PSEN1 | c.1117+191A>C (n.1117+191A>C) c.1129+191A>C (n.1129+191A>C) n.1879+191A>C c.*84+191A>C (n.*84+191A>C) n.1555+191A>C c.1009+191A>C (n.1009+191A>C) c.*1073+191A>C (n.*1073+191A>C) n.6679+191A>C c.*1341+191A>C (n.*1341+191A>C) c.944-4993A>C (n.944-4993A>C) c.1172+148A>C (n.1172+148A>C) c.*791+191A>C (n.*791+191A>C) c.*687+191A>C (n.*687+191A>C) c.1030+191A>C (n.1030+191A>C) c.*1218+191A>C (n.*1218+191A>C) c.880+191A>C (n.880+191A>C) c.*1068+191A>C (n.*1068+191A>C) c.*909+191A>C (n.*909+191A>C) c.*569+191A>C (n.*569+191A>C) c.1156+191A>C (n.1156+191A>C) c.*597+191A>C (n.*597+191A>C) n.1527+191A>C n.2840+191A>C n.340+191A>C n.2128+191A>C n.1264+191A>C c.1018+191A>C (n.1018+191A>C) c.853+191A>C (n.853+191A>C) c.1221+191A>C (n.1221+191A>C) c.1209+191A>C (n.1209+191A>C) n.494+191A>C c.956-4993A>C (n.956-4993A>C) | |
14 | g.73212133A>G | CA2146495606 | PSEN1 | c.1117+191A>G (n.1117+191A>G) c.1129+191A>G (n.1129+191A>G) n.1879+191A>G c.*84+191A>G (n.*84+191A>G) n.1555+191A>G c.1009+191A>G (n.1009+191A>G) c.*1073+191A>G (n.*1073+191A>G) n.6679+191A>G c.*1341+191A>G (n.*1341+191A>G) c.944-4993A>G (n.944-4993A>G) c.1172+148A>G (n.1172+148A>G) c.*791+191A>G (n.*791+191A>G) c.*687+191A>G (n.*687+191A>G) c.1030+191A>G (n.1030+191A>G) c.*1218+191A>G (n.*1218+191A>G) c.880+191A>G (n.880+191A>G) c.*1068+191A>G (n.*1068+191A>G) c.*909+191A>G (n.*909+191A>G) c.*569+191A>G (n.*569+191A>G) c.1156+191A>G (n.1156+191A>G) c.*597+191A>G (n.*597+191A>G) n.1527+191A>G n.2840+191A>G n.340+191A>G n.2128+191A>G n.1264+191A>G c.1018+191A>G (n.1018+191A>G) c.853+191A>G (n.853+191A>G) c.1221+191A>G (n.1221+191A>G) c.1209+191A>G (n.1209+191A>G) n.494+191A>G c.956-4993A>G (n.956-4993A>G) | dbSNP |
14 | g.73212133A>T | CA964615101 | PSEN1 | c.1117+191A>T (n.1117+191A>T) c.1129+191A>T (n.1129+191A>T) n.1879+191A>T c.*84+191A>T (n.*84+191A>T) n.1555+191A>T c.1009+191A>T (n.1009+191A>T) c.*1073+191A>T (n.*1073+191A>T) n.6679+191A>T c.*1341+191A>T (n.*1341+191A>T) c.944-4993A>T (n.944-4993A>T) c.1172+148A>T (n.1172+148A>T) c.*791+191A>T (n.*791+191A>T) c.*687+191A>T (n.*687+191A>T) c.1030+191A>T (n.1030+191A>T) c.*1218+191A>T (n.*1218+191A>T) c.880+191A>T (n.880+191A>T) c.*1068+191A>T (n.*1068+191A>T) c.*909+191A>T (n.*909+191A>T) c.*569+191A>T (n.*569+191A>T) c.1156+191A>T (n.1156+191A>T) c.*597+191A>T (n.*597+191A>T) n.1527+191A>T n.2840+191A>T n.340+191A>T n.2128+191A>T n.1264+191A>T c.1018+191A>T (n.1018+191A>T) c.853+191A>T (n.853+191A>T) c.1221+191A>T (n.1221+191A>T) c.1209+191A>T (n.1209+191A>T) n.494+191A>T c.956-4993A>T (n.956-4993A>T) | gnomAD v3 gnomAD v4 |
14 | g.73212134C>A | CA964615103 | PSEN1 | c.1117+192C>A (n.1117+192C>A) c.1129+192C>A (n.1129+192C>A) n.1879+192C>A c.*84+192C>A (n.*84+192C>A) n.1555+192C>A c.1009+192C>A (n.1009+192C>A) c.*1073+192C>A (n.*1073+192C>A) n.6679+192C>A c.*1341+192C>A (n.*1341+192C>A) c.944-4992C>A (n.944-4992C>A) c.1172+149C>A (n.1172+149C>A) c.*791+192C>A (n.*791+192C>A) c.*687+192C>A (n.*687+192C>A) c.1030+192C>A (n.1030+192C>A) c.*1218+192C>A (n.*1218+192C>A) c.880+192C>A (n.880+192C>A) c.*1068+192C>A (n.*1068+192C>A) c.*909+192C>A (n.*909+192C>A) c.*569+192C>A (n.*569+192C>A) c.1156+192C>A (n.1156+192C>A) c.*597+192C>A (n.*597+192C>A) n.1527+192C>A n.2840+192C>A n.340+192C>A n.2128+192C>A n.1264+192C>A c.1018+192C>A (n.1018+192C>A) c.853+192C>A (n.853+192C>A) c.1221+192C>A (n.1221+192C>A) c.1209+192C>A (n.1209+192C>A) n.494+192C>A c.956-4992C>A (n.956-4992C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212134C= | CA2146495607 | PSEN1 | c.1117+192C= (n.1117+192C=) c.1129+192C= (n.1129+192C=) n.1879+192C= c.*84+192C= (n.*84+192C=) n.1555+192C= c.1009+192C= (n.1009+192C=) c.*1073+192C= (n.*1073+192C=) n.6679+192C= c.*1341+192C= (n.*1341+192C=) c.944-4992C= (n.944-4992C=) c.1172+149C= (n.1172+149C=) c.*791+192C= (n.*791+192C=) c.*687+192C= (n.*687+192C=) c.1030+192C= (n.1030+192C=) c.*1218+192C= (n.*1218+192C=) c.880+192C= (n.880+192C=) c.*1068+192C= (n.*1068+192C=) c.*909+192C= (n.*909+192C=) c.*569+192C= (n.*569+192C=) c.1156+192C= (n.1156+192C=) c.*597+192C= (n.*597+192C=) n.1527+192C= n.2840+192C= n.340+192C= n.2128+192C= n.1264+192C= c.1018+192C= (n.1018+192C=) c.853+192C= (n.853+192C=) c.1221+192C= (n.1221+192C=) c.1209+192C= (n.1209+192C=) n.494+192C= c.956-4992C= (n.956-4992C=) | |
14 | g.73212134C>T | CA262618877 | PSEN1 | c.1117+192C>T (n.1117+192C>T) c.1129+192C>T (n.1129+192C>T) n.1879+192C>T c.*84+192C>T (n.*84+192C>T) n.1555+192C>T c.1009+192C>T (n.1009+192C>T) c.*1073+192C>T (n.*1073+192C>T) n.6679+192C>T c.*1341+192C>T (n.*1341+192C>T) c.944-4992C>T (n.944-4992C>T) c.1172+149C>T (n.1172+149C>T) c.*791+192C>T (n.*791+192C>T) c.*687+192C>T (n.*687+192C>T) c.1030+192C>T (n.1030+192C>T) c.*1218+192C>T (n.*1218+192C>T) c.880+192C>T (n.880+192C>T) c.*1068+192C>T (n.*1068+192C>T) c.*909+192C>T (n.*909+192C>T) c.*569+192C>T (n.*569+192C>T) c.1156+192C>T (n.1156+192C>T) c.*597+192C>T (n.*597+192C>T) n.1527+192C>T n.2840+192C>T n.340+192C>T n.2128+192C>T n.1264+192C>T c.1018+192C>T (n.1018+192C>T) c.853+192C>T (n.853+192C>T) c.1221+192C>T (n.1221+192C>T) c.1209+192C>T (n.1209+192C>T) n.494+192C>T c.956-4992C>T (n.956-4992C>T) | dbSNP |
14 | g.73212134_73212136del | CA2507758969 | PSEN1 | c.1117+192_1117+194del (n.1117+192_1117+194del) c.1129+192_1129+194del (n.1129+192_1129+194del) n.1879+192_1879+194del c.*84+192_*84+194del (n.*84+192_*84+194del) n.1555+192_1555+194del c.1009+192_1009+194del (n.1009+192_1009+194del) c.*1073+192_*1073+194del (n.*1073+192_*1073+194del) n.6679+192_6679+194del c.*1341+192_*1341+194del (n.*1341+192_*1341+194del) c.944-4992_944-4990del (n.944-4992_944-4990del) c.1172+149_1172+151del (n.1172+149_1172+151del) c.*791+192_*791+194del (n.*791+192_*791+194del) c.*687+192_*687+194del (n.*687+192_*687+194del) c.1030+192_1030+194del (n.1030+192_1030+194del) c.*1218+192_*1218+194del (n.*1218+192_*1218+194del) c.880+192_880+194del (n.880+192_880+194del) c.*1068+192_*1068+194del (n.*1068+192_*1068+194del) c.*909+192_*909+194del (n.*909+192_*909+194del) c.*569+192_*569+194del (n.*569+192_*569+194del) c.1156+192_1156+194del (n.1156+192_1156+194del) c.*597+192_*597+194del (n.*597+192_*597+194del) n.1527+192_1527+194del n.2840+192_2840+194del n.340+192_340+194del n.2128+192_2128+194del n.1264+192_1264+194del c.1018+192_1018+194del (n.1018+192_1018+194del) c.853+192_853+194del (n.853+192_853+194del) c.1221+192_1221+194del (n.1221+192_1221+194del) c.1209+192_1209+194del (n.1209+192_1209+194del) n.494+192_494+194del c.956-4992_956-4990del (n.956-4992_956-4990del) | |
14 | g.73212134_73212136delinsCAG | CA2146495608 | PSEN1 | c.1117+192_1117+194delinsCAG (n.1117+192_1117+194delinsCAG) c.1129+192_1129+194delinsCAG (n.1129+192_1129+194delinsCAG) n.1879+192_1879+194delinsCAG c.*84+192_*84+194delinsCAG (n.*84+192_*84+194delinsCAG) n.1555+192_1555+194delinsCAG c.1009+192_1009+194delinsCAG (n.1009+192_1009+194delinsCAG) c.*1073+192_*1073+194delinsCAG (n.*1073+192_*1073+194delinsCAG) n.6679+192_6679+194delinsCAG c.*1341+192_*1341+194delinsCAG (n.*1341+192_*1341+194delinsCAG) c.944-4992_944-4990delinsCAG (n.944-4992_944-4990delinsCAG) c.1172+149_1172+151delinsCAG (n.1172+149_1172+151delinsCAG) c.*791+192_*791+194delinsCAG (n.*791+192_*791+194delinsCAG) c.*687+192_*687+194delinsCAG (n.*687+192_*687+194delinsCAG) c.1030+192_1030+194delinsCAG (n.1030+192_1030+194delinsCAG) c.*1218+192_*1218+194delinsCAG (n.*1218+192_*1218+194delinsCAG) c.880+192_880+194delinsCAG (n.880+192_880+194delinsCAG) c.*1068+192_*1068+194delinsCAG (n.*1068+192_*1068+194delinsCAG) c.*909+192_*909+194delinsCAG (n.*909+192_*909+194delinsCAG) c.*569+192_*569+194delinsCAG (n.*569+192_*569+194delinsCAG) c.1156+192_1156+194delinsCAG (n.1156+192_1156+194delinsCAG) c.*597+192_*597+194delinsCAG (n.*597+192_*597+194delinsCAG) n.1527+192_1527+194delinsCAG n.2840+192_2840+194delinsCAG n.340+192_340+194delinsCAG n.2128+192_2128+194delinsCAG n.1264+192_1264+194delinsCAG c.1018+192_1018+194delinsCAG (n.1018+192_1018+194delinsCAG) c.853+192_853+194delinsCAG (n.853+192_853+194delinsCAG) c.1221+192_1221+194delinsCAG (n.1221+192_1221+194delinsCAG) c.1209+192_1209+194delinsCAG (n.1209+192_1209+194delinsCAG) n.494+192_494+194delinsCAG c.956-4992_956-4990delinsCAG (n.956-4992_956-4990delinsCAG) | |
14 | g.73212135A= | CA2146495609 | PSEN1 | c.1117+193A= (n.1117+193A=) c.1129+193A= (n.1129+193A=) n.1879+193A= c.*84+193A= (n.*84+193A=) n.1555+193A= c.1009+193A= (n.1009+193A=) c.*1073+193A= (n.*1073+193A=) n.6679+193A= c.*1341+193A= (n.*1341+193A=) c.944-4991A= (n.944-4991A=) c.1172+150A= (n.1172+150A=) c.*791+193A= (n.*791+193A=) c.*687+193A= (n.*687+193A=) c.1030+193A= (n.1030+193A=) c.*1218+193A= (n.*1218+193A=) c.880+193A= (n.880+193A=) c.*1068+193A= (n.*1068+193A=) c.*909+193A= (n.*909+193A=) c.*569+193A= (n.*569+193A=) c.1156+193A= (n.1156+193A=) c.*597+193A= (n.*597+193A=) n.1527+193A= n.2840+193A= n.340+193A= n.2128+193A= n.1264+193A= c.1018+193A= (n.1018+193A=) c.853+193A= (n.853+193A=) c.1221+193A= (n.1221+193A=) c.1209+193A= (n.1209+193A=) n.494+193A= c.956-4991A= (n.956-4991A=) | |
14 | g.73212135A>G | CA262618880 | PSEN1 | c.1117+193A>G (n.1117+193A>G) c.1129+193A>G (n.1129+193A>G) n.1879+193A>G c.*84+193A>G (n.*84+193A>G) n.1555+193A>G c.1009+193A>G (n.1009+193A>G) c.*1073+193A>G (n.*1073+193A>G) n.6679+193A>G c.*1341+193A>G (n.*1341+193A>G) c.944-4991A>G (n.944-4991A>G) c.1172+150A>G (n.1172+150A>G) c.*791+193A>G (n.*791+193A>G) c.*687+193A>G (n.*687+193A>G) c.1030+193A>G (n.1030+193A>G) c.*1218+193A>G (n.*1218+193A>G) c.880+193A>G (n.880+193A>G) c.*1068+193A>G (n.*1068+193A>G) c.*909+193A>G (n.*909+193A>G) c.*569+193A>G (n.*569+193A>G) c.1156+193A>G (n.1156+193A>G) c.*597+193A>G (n.*597+193A>G) n.1527+193A>G n.2840+193A>G n.340+193A>G n.2128+193A>G n.1264+193A>G c.1018+193A>G (n.1018+193A>G) c.853+193A>G (n.853+193A>G) c.1221+193A>G (n.1221+193A>G) c.1209+193A>G (n.1209+193A>G) n.494+193A>G c.956-4991A>G (n.956-4991A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212137_73212138del | CA2146495610 | PSEN1 | c.1117+195_1117+196del (n.1117+195_1117+196del) c.1129+195_1129+196del (n.1129+195_1129+196del) n.1879+195_1879+196del c.*84+195_*84+196del (n.*84+195_*84+196del) n.1555+195_1555+196del c.1009+195_1009+196del (n.1009+195_1009+196del) c.*1073+195_*1073+196del (n.*1073+195_*1073+196del) n.6679+195_6679+196del c.*1341+195_*1341+196del (n.*1341+195_*1341+196del) c.944-4989_944-4988del (n.944-4989_944-4988del) c.1172+152_1172+153del (n.1172+152_1172+153del) c.*791+195_*791+196del (n.*791+195_*791+196del) c.*687+195_*687+196del (n.*687+195_*687+196del) c.1030+195_1030+196del (n.1030+195_1030+196del) c.*1218+195_*1218+196del (n.*1218+195_*1218+196del) c.880+195_880+196del (n.880+195_880+196del) c.*1068+195_*1068+196del (n.*1068+195_*1068+196del) c.*909+195_*909+196del (n.*909+195_*909+196del) c.*569+195_*569+196del (n.*569+195_*569+196del) c.1156+195_1156+196del (n.1156+195_1156+196del) c.*597+195_*597+196del (n.*597+195_*597+196del) n.1527+195_1527+196del n.2840+195_2840+196del n.340+195_340+196del n.2128+195_2128+196del n.1264+195_1264+196del c.1018+195_1018+196del (n.1018+195_1018+196del) c.853+195_853+196del (n.853+195_853+196del) c.1221+195_1221+196del (n.1221+195_1221+196del) c.1209+195_1209+196del (n.1209+195_1209+196del) n.494+195_494+196del c.956-4989_956-4988del (n.956-4989_956-4988del) | dbSNP |
14 | g.73212137A= | CA2146495611 | PSEN1 | c.1117+195A= (n.1117+195A=) c.1129+195A= (n.1129+195A=) n.1879+195A= c.*84+195A= (n.*84+195A=) n.1555+195A= c.1009+195A= (n.1009+195A=) c.*1073+195A= (n.*1073+195A=) n.6679+195A= c.*1341+195A= (n.*1341+195A=) c.944-4989A= (n.944-4989A=) c.1172+152A= (n.1172+152A=) c.*791+195A= (n.*791+195A=) c.*687+195A= (n.*687+195A=) c.1030+195A= (n.1030+195A=) c.*1218+195A= (n.*1218+195A=) c.880+195A= (n.880+195A=) c.*1068+195A= (n.*1068+195A=) c.*909+195A= (n.*909+195A=) c.*569+195A= (n.*569+195A=) c.1156+195A= (n.1156+195A=) c.*597+195A= (n.*597+195A=) n.1527+195A= n.2840+195A= n.340+195A= n.2128+195A= n.1264+195A= c.1018+195A= (n.1018+195A=) c.853+195A= (n.853+195A=) c.1221+195A= (n.1221+195A=) c.1209+195A= (n.1209+195A=) n.494+195A= c.956-4989A= (n.956-4989A=) | |
14 | g.73212137A>T | CA708388968 | PSEN1 | c.1117+195A>T (n.1117+195A>T) c.1129+195A>T (n.1129+195A>T) n.1879+195A>T c.*84+195A>T (n.*84+195A>T) n.1555+195A>T c.1009+195A>T (n.1009+195A>T) c.*1073+195A>T (n.*1073+195A>T) n.6679+195A>T c.*1341+195A>T (n.*1341+195A>T) c.944-4989A>T (n.944-4989A>T) c.1172+152A>T (n.1172+152A>T) c.*791+195A>T (n.*791+195A>T) c.*687+195A>T (n.*687+195A>T) c.1030+195A>T (n.1030+195A>T) c.*1218+195A>T (n.*1218+195A>T) c.880+195A>T (n.880+195A>T) c.*1068+195A>T (n.*1068+195A>T) c.*909+195A>T (n.*909+195A>T) c.*569+195A>T (n.*569+195A>T) c.1156+195A>T (n.1156+195A>T) c.*597+195A>T (n.*597+195A>T) n.1527+195A>T n.2840+195A>T n.340+195A>T n.2128+195A>T n.1264+195A>T c.1018+195A>T (n.1018+195A>T) c.853+195A>T (n.853+195A>T) c.1221+195A>T (n.1221+195A>T) c.1209+195A>T (n.1209+195A>T) n.494+195A>T c.956-4989A>T (n.956-4989A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212138G>A | CA708388971 | PSEN1 | c.1117+196G>A (n.1117+196G>A) c.1129+196G>A (n.1129+196G>A) n.1879+196G>A c.*84+196G>A (n.*84+196G>A) n.1555+196G>A c.1009+196G>A (n.1009+196G>A) c.*1073+196G>A (n.*1073+196G>A) n.6679+196G>A c.*1341+196G>A (n.*1341+196G>A) c.944-4988G>A (n.944-4988G>A) c.1172+153G>A (n.1172+153G>A) c.*791+196G>A (n.*791+196G>A) c.*687+196G>A (n.*687+196G>A) c.1030+196G>A (n.1030+196G>A) c.*1218+196G>A (n.*1218+196G>A) c.880+196G>A (n.880+196G>A) c.*1068+196G>A (n.*1068+196G>A) c.*909+196G>A (n.*909+196G>A) c.*569+196G>A (n.*569+196G>A) c.1156+196G>A (n.1156+196G>A) c.*597+196G>A (n.*597+196G>A) n.1527+196G>A n.2840+196G>A n.340+196G>A n.2128+196G>A n.1264+196G>A c.1018+196G>A (n.1018+196G>A) c.853+196G>A (n.853+196G>A) c.1221+196G>A (n.1221+196G>A) c.1209+196G>A (n.1209+196G>A) n.494+196G>A c.956-4988G>A (n.956-4988G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212138G= | CA2146495612 | PSEN1 | c.1117+196G= (n.1117+196G=) c.1129+196G= (n.1129+196G=) n.1879+196G= c.*84+196G= (n.*84+196G=) n.1555+196G= c.1009+196G= (n.1009+196G=) c.*1073+196G= (n.*1073+196G=) n.6679+196G= c.*1341+196G= (n.*1341+196G=) c.944-4988G= (n.944-4988G=) c.1172+153G= (n.1172+153G=) c.*791+196G= (n.*791+196G=) c.*687+196G= (n.*687+196G=) c.1030+196G= (n.1030+196G=) c.*1218+196G= (n.*1218+196G=) c.880+196G= (n.880+196G=) c.*1068+196G= (n.*1068+196G=) c.*909+196G= (n.*909+196G=) c.*569+196G= (n.*569+196G=) c.1156+196G= (n.1156+196G=) c.*597+196G= (n.*597+196G=) n.1527+196G= n.2840+196G= n.340+196G= n.2128+196G= n.1264+196G= c.1018+196G= (n.1018+196G=) c.853+196G= (n.853+196G=) c.1221+196G= (n.1221+196G=) c.1209+196G= (n.1209+196G=) n.494+196G= c.956-4988G= (n.956-4988G=) | |
14 | g.73212138G>T | CA964615105 | PSEN1 | c.1117+196G>T (n.1117+196G>T) c.1129+196G>T (n.1129+196G>T) n.1879+196G>T c.*84+196G>T (n.*84+196G>T) n.1555+196G>T c.1009+196G>T (n.1009+196G>T) c.*1073+196G>T (n.*1073+196G>T) n.6679+196G>T c.*1341+196G>T (n.*1341+196G>T) c.944-4988G>T (n.944-4988G>T) c.1172+153G>T (n.1172+153G>T) c.*791+196G>T (n.*791+196G>T) c.*687+196G>T (n.*687+196G>T) c.1030+196G>T (n.1030+196G>T) c.*1218+196G>T (n.*1218+196G>T) c.880+196G>T (n.880+196G>T) c.*1068+196G>T (n.*1068+196G>T) c.*909+196G>T (n.*909+196G>T) c.*569+196G>T (n.*569+196G>T) c.1156+196G>T (n.1156+196G>T) c.*597+196G>T (n.*597+196G>T) n.1527+196G>T n.2840+196G>T n.340+196G>T n.2128+196G>T n.1264+196G>T c.1018+196G>T (n.1018+196G>T) c.853+196G>T (n.853+196G>T) c.1221+196G>T (n.1221+196G>T) c.1209+196G>T (n.1209+196G>T) n.494+196G>T c.956-4988G>T (n.956-4988G>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212139T>G | CA964615106 | PSEN1 | c.1117+197T>G (n.1117+197T>G) c.1129+197T>G (n.1129+197T>G) n.1879+197T>G c.*84+197T>G (n.*84+197T>G) n.1555+197T>G c.1009+197T>G (n.1009+197T>G) c.*1073+197T>G (n.*1073+197T>G) n.6679+197T>G c.*1341+197T>G (n.*1341+197T>G) c.944-4987T>G (n.944-4987T>G) c.1172+154T>G (n.1172+154T>G) c.*791+197T>G (n.*791+197T>G) c.*687+197T>G (n.*687+197T>G) c.1030+197T>G (n.1030+197T>G) c.*1218+197T>G (n.*1218+197T>G) c.880+197T>G (n.880+197T>G) c.*1068+197T>G (n.*1068+197T>G) c.*909+197T>G (n.*909+197T>G) c.*569+197T>G (n.*569+197T>G) c.1156+197T>G (n.1156+197T>G) c.*597+197T>G (n.*597+197T>G) n.1527+197T>G n.2840+197T>G n.340+197T>G n.2128+197T>G n.1264+197T>G c.1018+197T>G (n.1018+197T>G) c.853+197T>G (n.853+197T>G) c.1221+197T>G (n.1221+197T>G) c.1209+197T>G (n.1209+197T>G) n.494+197T>G c.956-4987T>G (n.956-4987T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212140C>A | CA2802117712 | PSEN1 | c.1117+198C>A (n.1117+198C>A) c.1129+198C>A (n.1129+198C>A) n.1879+198C>A c.*84+198C>A (n.*84+198C>A) n.1555+198C>A c.1009+198C>A (n.1009+198C>A) c.*1073+198C>A (n.*1073+198C>A) n.6679+198C>A c.*1341+198C>A (n.*1341+198C>A) c.944-4986C>A (n.944-4986C>A) c.1172+155C>A (n.1172+155C>A) c.*791+198C>A (n.*791+198C>A) c.*687+198C>A (n.*687+198C>A) c.1030+198C>A (n.1030+198C>A) c.*1218+198C>A (n.*1218+198C>A) c.880+198C>A (n.880+198C>A) c.*1068+198C>A (n.*1068+198C>A) c.*909+198C>A (n.*909+198C>A) c.*569+198C>A (n.*569+198C>A) c.1156+198C>A (n.1156+198C>A) c.*597+198C>A (n.*597+198C>A) n.1527+198C>A n.2840+198C>A n.340+198C>A n.2128+198C>A n.1264+198C>A c.1018+198C>A (n.1018+198C>A) c.853+198C>A (n.853+198C>A) c.1221+198C>A (n.1221+198C>A) c.1209+198C>A (n.1209+198C>A) n.494+198C>A c.956-4986C>A (n.956-4986C>A) | |
14 | g.73212140C= | CA2146495613 | PSEN1 | c.1117+198C= (n.1117+198C=) c.1129+198C= (n.1129+198C=) n.1879+198C= c.*84+198C= (n.*84+198C=) n.1555+198C= c.1009+198C= (n.1009+198C=) c.*1073+198C= (n.*1073+198C=) n.6679+198C= c.*1341+198C= (n.*1341+198C=) c.944-4986C= (n.944-4986C=) c.1172+155C= (n.1172+155C=) c.*791+198C= (n.*791+198C=) c.*687+198C= (n.*687+198C=) c.1030+198C= (n.1030+198C=) c.*1218+198C= (n.*1218+198C=) c.880+198C= (n.880+198C=) c.*1068+198C= (n.*1068+198C=) c.*909+198C= (n.*909+198C=) c.*569+198C= (n.*569+198C=) c.1156+198C= (n.1156+198C=) c.*597+198C= (n.*597+198C=) n.1527+198C= n.2840+198C= n.340+198C= n.2128+198C= n.1264+198C= c.1018+198C= (n.1018+198C=) c.853+198C= (n.853+198C=) c.1221+198C= (n.1221+198C=) c.1209+198C= (n.1209+198C=) n.494+198C= c.956-4986C= (n.956-4986C=) | |
14 | g.73212140C>T | CA708388972 | PSEN1 | c.1117+198C>T (n.1117+198C>T) c.1129+198C>T (n.1129+198C>T) n.1879+198C>T c.*84+198C>T (n.*84+198C>T) n.1555+198C>T c.1009+198C>T (n.1009+198C>T) c.*1073+198C>T (n.*1073+198C>T) n.6679+198C>T c.*1341+198C>T (n.*1341+198C>T) c.944-4986C>T (n.944-4986C>T) c.1172+155C>T (n.1172+155C>T) c.*791+198C>T (n.*791+198C>T) c.*687+198C>T (n.*687+198C>T) c.1030+198C>T (n.1030+198C>T) c.*1218+198C>T (n.*1218+198C>T) c.880+198C>T (n.880+198C>T) c.*1068+198C>T (n.*1068+198C>T) c.*909+198C>T (n.*909+198C>T) c.*569+198C>T (n.*569+198C>T) c.1156+198C>T (n.1156+198C>T) c.*597+198C>T (n.*597+198C>T) n.1527+198C>T n.2840+198C>T n.340+198C>T n.2128+198C>T n.1264+198C>T c.1018+198C>T (n.1018+198C>T) c.853+198C>T (n.853+198C>T) c.1221+198C>T (n.1221+198C>T) c.1209+198C>T (n.1209+198C>T) n.494+198C>T c.956-4986C>T (n.956-4986C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212141T>G | CA964615107 | PSEN1 | c.1117+199T>G (n.1117+199T>G) c.1129+199T>G (n.1129+199T>G) n.1879+199T>G c.*84+199T>G (n.*84+199T>G) n.1555+199T>G c.1009+199T>G (n.1009+199T>G) c.*1073+199T>G (n.*1073+199T>G) n.6679+199T>G c.*1341+199T>G (n.*1341+199T>G) c.944-4985T>G (n.944-4985T>G) c.1172+156T>G (n.1172+156T>G) c.*791+199T>G (n.*791+199T>G) c.*687+199T>G (n.*687+199T>G) c.1030+199T>G (n.1030+199T>G) c.*1218+199T>G (n.*1218+199T>G) c.880+199T>G (n.880+199T>G) c.*1068+199T>G (n.*1068+199T>G) c.*909+199T>G (n.*909+199T>G) c.*569+199T>G (n.*569+199T>G) c.1156+199T>G (n.1156+199T>G) c.*597+199T>G (n.*597+199T>G) n.1527+199T>G n.2840+199T>G n.340+199T>G n.2128+199T>G n.1264+199T>G c.1018+199T>G (n.1018+199T>G) c.853+199T>G (n.853+199T>G) c.1221+199T>G (n.1221+199T>G) c.1209+199T>G (n.1209+199T>G) n.494+199T>G c.956-4985T>G (n.956-4985T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212142C>A | CA2802117716 | PSEN1 | c.1117+200C>A (n.1117+200C>A) c.1129+200C>A (n.1129+200C>A) n.1879+200C>A c.*84+200C>A (n.*84+200C>A) n.1555+200C>A c.1009+200C>A (n.1009+200C>A) c.*1073+200C>A (n.*1073+200C>A) n.6679+200C>A c.*1341+200C>A (n.*1341+200C>A) c.944-4984C>A (n.944-4984C>A) c.1172+157C>A (n.1172+157C>A) c.*791+200C>A (n.*791+200C>A) c.*687+200C>A (n.*687+200C>A) c.1030+200C>A (n.1030+200C>A) c.*1218+200C>A (n.*1218+200C>A) c.880+200C>A (n.880+200C>A) c.*1068+200C>A (n.*1068+200C>A) c.*909+200C>A (n.*909+200C>A) c.*569+200C>A (n.*569+200C>A) c.1156+200C>A (n.1156+200C>A) c.*597+200C>A (n.*597+200C>A) n.1527+200C>A n.2840+200C>A n.340+200C>A n.2128+200C>A n.1264+200C>A c.1018+200C>A (n.1018+200C>A) c.853+200C>A (n.853+200C>A) c.1221+200C>A (n.1221+200C>A) c.1209+200C>A (n.1209+200C>A) n.494+200C>A c.956-4984C>A (n.956-4984C>A) | |
14 | g.73212142C= | CA2146495614 | PSEN1 | c.1117+200C= (n.1117+200C=) c.1129+200C= (n.1129+200C=) n.1879+200C= c.*84+200C= (n.*84+200C=) n.1555+200C= c.1009+200C= (n.1009+200C=) c.*1073+200C= (n.*1073+200C=) n.6679+200C= c.*1341+200C= (n.*1341+200C=) c.944-4984C= (n.944-4984C=) c.1172+157C= (n.1172+157C=) c.*791+200C= (n.*791+200C=) c.*687+200C= (n.*687+200C=) c.1030+200C= (n.1030+200C=) c.*1218+200C= (n.*1218+200C=) c.880+200C= (n.880+200C=) c.*1068+200C= (n.*1068+200C=) c.*909+200C= (n.*909+200C=) c.*569+200C= (n.*569+200C=) c.1156+200C= (n.1156+200C=) c.*597+200C= (n.*597+200C=) n.1527+200C= n.2840+200C= n.340+200C= n.2128+200C= n.1264+200C= c.1018+200C= (n.1018+200C=) c.853+200C= (n.853+200C=) c.1221+200C= (n.1221+200C=) c.1209+200C= (n.1209+200C=) n.494+200C= c.956-4984C= (n.956-4984C=) | |
14 | g.73212142C>T | CA262618883 | PSEN1 | c.1117+200C>T (n.1117+200C>T) c.1129+200C>T (n.1129+200C>T) n.1879+200C>T c.*84+200C>T (n.*84+200C>T) n.1555+200C>T c.1009+200C>T (n.1009+200C>T) c.*1073+200C>T (n.*1073+200C>T) n.6679+200C>T c.*1341+200C>T (n.*1341+200C>T) c.944-4984C>T (n.944-4984C>T) c.1172+157C>T (n.1172+157C>T) c.*791+200C>T (n.*791+200C>T) c.*687+200C>T (n.*687+200C>T) c.1030+200C>T (n.1030+200C>T) c.*1218+200C>T (n.*1218+200C>T) c.880+200C>T (n.880+200C>T) c.*1068+200C>T (n.*1068+200C>T) c.*909+200C>T (n.*909+200C>T) c.*569+200C>T (n.*569+200C>T) c.1156+200C>T (n.1156+200C>T) c.*597+200C>T (n.*597+200C>T) n.1527+200C>T n.2840+200C>T n.340+200C>T n.2128+200C>T n.1264+200C>T c.1018+200C>T (n.1018+200C>T) c.853+200C>T (n.853+200C>T) c.1221+200C>T (n.1221+200C>T) c.1209+200C>T (n.1209+200C>T) n.494+200C>T c.956-4984C>T (n.956-4984C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212143G>A | CA262618886 | PSEN1 | c.1117+201G>A (n.1117+201G>A) c.1129+201G>A (n.1129+201G>A) n.1879+201G>A c.*84+201G>A (n.*84+201G>A) n.1555+201G>A c.1009+201G>A (n.1009+201G>A) c.*1073+201G>A (n.*1073+201G>A) n.6679+201G>A c.*1341+201G>A (n.*1341+201G>A) c.944-4983G>A (n.944-4983G>A) c.1172+158G>A (n.1172+158G>A) c.*791+201G>A (n.*791+201G>A) c.*687+201G>A (n.*687+201G>A) c.1030+201G>A (n.1030+201G>A) c.*1218+201G>A (n.*1218+201G>A) c.880+201G>A (n.880+201G>A) c.*1068+201G>A (n.*1068+201G>A) c.*909+201G>A (n.*909+201G>A) c.*569+201G>A (n.*569+201G>A) c.1156+201G>A (n.1156+201G>A) c.*597+201G>A (n.*597+201G>A) n.1527+201G>A n.2840+201G>A n.340+201G>A n.2128+201G>A n.1264+201G>A c.1018+201G>A (n.1018+201G>A) c.853+201G>A (n.853+201G>A) c.1221+201G>A (n.1221+201G>A) c.1209+201G>A (n.1209+201G>A) n.494+201G>A c.956-4983G>A (n.956-4983G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212143G>C | CA964615115 | PSEN1 | c.1117+201G>C (n.1117+201G>C) c.1129+201G>C (n.1129+201G>C) n.1879+201G>C c.*84+201G>C (n.*84+201G>C) n.1555+201G>C c.1009+201G>C (n.1009+201G>C) c.*1073+201G>C (n.*1073+201G>C) n.6679+201G>C c.*1341+201G>C (n.*1341+201G>C) c.944-4983G>C (n.944-4983G>C) c.1172+158G>C (n.1172+158G>C) c.*791+201G>C (n.*791+201G>C) c.*687+201G>C (n.*687+201G>C) c.1030+201G>C (n.1030+201G>C) c.*1218+201G>C (n.*1218+201G>C) c.880+201G>C (n.880+201G>C) c.*1068+201G>C (n.*1068+201G>C) c.*909+201G>C (n.*909+201G>C) c.*569+201G>C (n.*569+201G>C) c.1156+201G>C (n.1156+201G>C) c.*597+201G>C (n.*597+201G>C) n.1527+201G>C n.2840+201G>C n.340+201G>C n.2128+201G>C n.1264+201G>C c.1018+201G>C (n.1018+201G>C) c.853+201G>C (n.853+201G>C) c.1221+201G>C (n.1221+201G>C) c.1209+201G>C (n.1209+201G>C) n.494+201G>C c.956-4983G>C (n.956-4983G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212143G= | CA2146495615 | PSEN1 | c.1117+201G= (n.1117+201G=) c.1129+201G= (n.1129+201G=) n.1879+201G= c.*84+201G= (n.*84+201G=) n.1555+201G= c.1009+201G= (n.1009+201G=) c.*1073+201G= (n.*1073+201G=) n.6679+201G= c.*1341+201G= (n.*1341+201G=) c.944-4983G= (n.944-4983G=) c.1172+158G= (n.1172+158G=) c.*791+201G= (n.*791+201G=) c.*687+201G= (n.*687+201G=) c.1030+201G= (n.1030+201G=) c.*1218+201G= (n.*1218+201G=) c.880+201G= (n.880+201G=) c.*1068+201G= (n.*1068+201G=) c.*909+201G= (n.*909+201G=) c.*569+201G= (n.*569+201G=) c.1156+201G= (n.1156+201G=) c.*597+201G= (n.*597+201G=) n.1527+201G= n.2840+201G= n.340+201G= n.2128+201G= n.1264+201G= c.1018+201G= (n.1018+201G=) c.853+201G= (n.853+201G=) c.1221+201G= (n.1221+201G=) c.1209+201G= (n.1209+201G=) n.494+201G= c.956-4983G= (n.956-4983G=) | |
14 | g.73212143G>T | CA615000814 | PSEN1 | c.1117+201G>T (n.1117+201G>T) c.1129+201G>T (n.1129+201G>T) n.1879+201G>T c.*84+201G>T (n.*84+201G>T) n.1555+201G>T c.1009+201G>T (n.1009+201G>T) c.*1073+201G>T (n.*1073+201G>T) n.6679+201G>T c.*1341+201G>T (n.*1341+201G>T) c.944-4983G>T (n.944-4983G>T) c.1172+158G>T (n.1172+158G>T) c.*791+201G>T (n.*791+201G>T) c.*687+201G>T (n.*687+201G>T) c.1030+201G>T (n.1030+201G>T) c.*1218+201G>T (n.*1218+201G>T) c.880+201G>T (n.880+201G>T) c.*1068+201G>T (n.*1068+201G>T) c.*909+201G>T (n.*909+201G>T) c.*569+201G>T (n.*569+201G>T) c.1156+201G>T (n.1156+201G>T) c.*597+201G>T (n.*597+201G>T) n.1527+201G>T n.2840+201G>T n.340+201G>T n.2128+201G>T n.1264+201G>T c.1018+201G>T (n.1018+201G>T) c.853+201G>T (n.853+201G>T) c.1221+201G>T (n.1221+201G>T) c.1209+201G>T (n.1209+201G>T) n.494+201G>T c.956-4983G>T (n.956-4983G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212145T>C | CA615000832 | PSEN1 | c.1117+203T>C (n.1117+203T>C) c.1129+203T>C (n.1129+203T>C) n.1879+203T>C c.*84+203T>C (n.*84+203T>C) n.1555+203T>C c.1009+203T>C (n.1009+203T>C) c.*1073+203T>C (n.*1073+203T>C) n.6679+203T>C c.*1341+203T>C (n.*1341+203T>C) c.944-4981T>C (n.944-4981T>C) c.1172+160T>C (n.1172+160T>C) c.*791+203T>C (n.*791+203T>C) c.*687+203T>C (n.*687+203T>C) c.1030+203T>C (n.1030+203T>C) c.*1218+203T>C (n.*1218+203T>C) c.880+203T>C (n.880+203T>C) c.*1068+203T>C (n.*1068+203T>C) c.*909+203T>C (n.*909+203T>C) c.*569+203T>C (n.*569+203T>C) c.1156+203T>C (n.1156+203T>C) c.*597+203T>C (n.*597+203T>C) n.1527+203T>C n.2840+203T>C n.340+203T>C n.2128+203T>C n.1264+203T>C c.1018+203T>C (n.1018+203T>C) c.853+203T>C (n.853+203T>C) c.1221+203T>C (n.1221+203T>C) c.1209+203T>C (n.1209+203T>C) n.494+203T>C c.956-4981T>C (n.956-4981T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212145T>G | CA964615133 | PSEN1 | c.1117+203T>G (n.1117+203T>G) c.1129+203T>G (n.1129+203T>G) n.1879+203T>G c.*84+203T>G (n.*84+203T>G) n.1555+203T>G c.1009+203T>G (n.1009+203T>G) c.*1073+203T>G (n.*1073+203T>G) n.6679+203T>G c.*1341+203T>G (n.*1341+203T>G) c.944-4981T>G (n.944-4981T>G) c.1172+160T>G (n.1172+160T>G) c.*791+203T>G (n.*791+203T>G) c.*687+203T>G (n.*687+203T>G) c.1030+203T>G (n.1030+203T>G) c.*1218+203T>G (n.*1218+203T>G) c.880+203T>G (n.880+203T>G) c.*1068+203T>G (n.*1068+203T>G) c.*909+203T>G (n.*909+203T>G) c.*569+203T>G (n.*569+203T>G) c.1156+203T>G (n.1156+203T>G) c.*597+203T>G (n.*597+203T>G) n.1527+203T>G n.2840+203T>G n.340+203T>G n.2128+203T>G n.1264+203T>G c.1018+203T>G (n.1018+203T>G) c.853+203T>G (n.853+203T>G) c.1221+203T>G (n.1221+203T>G) c.1209+203T>G (n.1209+203T>G) n.494+203T>G c.956-4981T>G (n.956-4981T>G) | gnomAD v3 gnomAD v4 |
14 | g.73212145T= | CA2146495616 | PSEN1 | c.1117+203T= (n.1117+203T=) c.1129+203T= (n.1129+203T=) n.1879+203T= c.*84+203T= (n.*84+203T=) n.1555+203T= c.1009+203T= (n.1009+203T=) c.*1073+203T= (n.*1073+203T=) n.6679+203T= c.*1341+203T= (n.*1341+203T=) c.944-4981T= (n.944-4981T=) c.1172+160T= (n.1172+160T=) c.*791+203T= (n.*791+203T=) c.*687+203T= (n.*687+203T=) c.1030+203T= (n.1030+203T=) c.*1218+203T= (n.*1218+203T=) c.880+203T= (n.880+203T=) c.*1068+203T= (n.*1068+203T=) c.*909+203T= (n.*909+203T=) c.*569+203T= (n.*569+203T=) c.1156+203T= (n.1156+203T=) c.*597+203T= (n.*597+203T=) n.1527+203T= n.2840+203T= n.340+203T= n.2128+203T= n.1264+203T= c.1018+203T= (n.1018+203T=) c.853+203T= (n.853+203T=) c.1221+203T= (n.1221+203T=) c.1209+203T= (n.1209+203T=) n.494+203T= c.956-4981T= (n.956-4981T=) | |
14 | g.73212146C= | CA2146495617 | PSEN1 | c.1117+204C= (n.1117+204C=) c.1129+204C= (n.1129+204C=) n.1879+204C= c.*84+204C= (n.*84+204C=) n.1555+204C= c.1009+204C= (n.1009+204C=) c.*1073+204C= (n.*1073+204C=) n.6679+204C= c.*1341+204C= (n.*1341+204C=) c.944-4980C= (n.944-4980C=) c.1172+161C= (n.1172+161C=) c.*791+204C= (n.*791+204C=) c.*687+204C= (n.*687+204C=) c.1030+204C= (n.1030+204C=) c.*1218+204C= (n.*1218+204C=) c.880+204C= (n.880+204C=) c.*1068+204C= (n.*1068+204C=) c.*909+204C= (n.*909+204C=) c.*569+204C= (n.*569+204C=) c.1156+204C= (n.1156+204C=) c.*597+204C= (n.*597+204C=) n.1527+204C= n.2840+204C= n.340+204C= n.2128+204C= n.1264+204C= c.1018+204C= (n.1018+204C=) c.853+204C= (n.853+204C=) c.1221+204C= (n.1221+204C=) c.1209+204C= (n.1209+204C=) n.494+204C= c.956-4980C= (n.956-4980C=) | |
14 | g.73212146C>T | CA615000836 | PSEN1 | c.1117+204C>T (n.1117+204C>T) c.1129+204C>T (n.1129+204C>T) n.1879+204C>T c.*84+204C>T (n.*84+204C>T) n.1555+204C>T c.1009+204C>T (n.1009+204C>T) c.*1073+204C>T (n.*1073+204C>T) n.6679+204C>T c.*1341+204C>T (n.*1341+204C>T) c.944-4980C>T (n.944-4980C>T) c.1172+161C>T (n.1172+161C>T) c.*791+204C>T (n.*791+204C>T) c.*687+204C>T (n.*687+204C>T) c.1030+204C>T (n.1030+204C>T) c.*1218+204C>T (n.*1218+204C>T) c.880+204C>T (n.880+204C>T) c.*1068+204C>T (n.*1068+204C>T) c.*909+204C>T (n.*909+204C>T) c.*569+204C>T (n.*569+204C>T) c.1156+204C>T (n.1156+204C>T) c.*597+204C>T (n.*597+204C>T) n.1527+204C>T n.2840+204C>T n.340+204C>T n.2128+204C>T n.1264+204C>T c.1018+204C>T (n.1018+204C>T) c.853+204C>T (n.853+204C>T) c.1221+204C>T (n.1221+204C>T) c.1209+204C>T (n.1209+204C>T) n.494+204C>T c.956-4980C>T (n.956-4980C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212148G>A | CA708388982 | PSEN1 | c.1117+206G>A (n.1117+206G>A) c.1129+206G>A (n.1129+206G>A) n.1879+206G>A c.*84+206G>A (n.*84+206G>A) n.1555+206G>A c.1009+206G>A (n.1009+206G>A) c.*1073+206G>A (n.*1073+206G>A) n.6679+206G>A c.*1341+206G>A (n.*1341+206G>A) c.944-4978G>A (n.944-4978G>A) c.1172+163G>A (n.1172+163G>A) c.*791+206G>A (n.*791+206G>A) c.*687+206G>A (n.*687+206G>A) c.1030+206G>A (n.1030+206G>A) c.*1218+206G>A (n.*1218+206G>A) c.880+206G>A (n.880+206G>A) c.*1068+206G>A (n.*1068+206G>A) c.*909+206G>A (n.*909+206G>A) c.*569+206G>A (n.*569+206G>A) c.1156+206G>A (n.1156+206G>A) c.*597+206G>A (n.*597+206G>A) n.1527+206G>A n.2840+206G>A n.340+206G>A n.2128+206G>A n.1264+206G>A c.1018+206G>A (n.1018+206G>A) c.853+206G>A (n.853+206G>A) c.1221+206G>A (n.1221+206G>A) c.1209+206G>A (n.1209+206G>A) n.494+206G>A c.956-4978G>A (n.956-4978G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212148G>C | CA2146495618 | PSEN1 | c.1117+206G>C (n.1117+206G>C) c.1129+206G>C (n.1129+206G>C) n.1879+206G>C c.*84+206G>C (n.*84+206G>C) n.1555+206G>C c.1009+206G>C (n.1009+206G>C) c.*1073+206G>C (n.*1073+206G>C) n.6679+206G>C c.*1341+206G>C (n.*1341+206G>C) c.944-4978G>C (n.944-4978G>C) c.1172+163G>C (n.1172+163G>C) c.*791+206G>C (n.*791+206G>C) c.*687+206G>C (n.*687+206G>C) c.1030+206G>C (n.1030+206G>C) c.*1218+206G>C (n.*1218+206G>C) c.880+206G>C (n.880+206G>C) c.*1068+206G>C (n.*1068+206G>C) c.*909+206G>C (n.*909+206G>C) c.*569+206G>C (n.*569+206G>C) c.1156+206G>C (n.1156+206G>C) c.*597+206G>C (n.*597+206G>C) n.1527+206G>C n.2840+206G>C n.340+206G>C n.2128+206G>C n.1264+206G>C c.1018+206G>C (n.1018+206G>C) c.853+206G>C (n.853+206G>C) c.1221+206G>C (n.1221+206G>C) c.1209+206G>C (n.1209+206G>C) n.494+206G>C c.956-4978G>C (n.956-4978G>C) | dbSNP |
14 | g.73212148G= | CA2146495619 | PSEN1 | c.1117+206G= (n.1117+206G=) c.1129+206G= (n.1129+206G=) n.1879+206G= c.*84+206G= (n.*84+206G=) n.1555+206G= c.1009+206G= (n.1009+206G=) c.*1073+206G= (n.*1073+206G=) n.6679+206G= c.*1341+206G= (n.*1341+206G=) c.944-4978G= (n.944-4978G=) c.1172+163G= (n.1172+163G=) c.*791+206G= (n.*791+206G=) c.*687+206G= (n.*687+206G=) c.1030+206G= (n.1030+206G=) c.*1218+206G= (n.*1218+206G=) c.880+206G= (n.880+206G=) c.*1068+206G= (n.*1068+206G=) c.*909+206G= (n.*909+206G=) c.*569+206G= (n.*569+206G=) c.1156+206G= (n.1156+206G=) c.*597+206G= (n.*597+206G=) n.1527+206G= n.2840+206G= n.340+206G= n.2128+206G= n.1264+206G= c.1018+206G= (n.1018+206G=) c.853+206G= (n.853+206G=) c.1221+206G= (n.1221+206G=) c.1209+206G= (n.1209+206G=) n.494+206G= c.956-4978G= (n.956-4978G=) | |
14 | g.73212149T= | CA2146495620 | PSEN1 | c.1117+207T= (n.1117+207T=) c.1129+207T= (n.1129+207T=) n.1879+207T= c.*84+207T= (n.*84+207T=) n.1555+207T= c.1009+207T= (n.1009+207T=) c.*1073+207T= (n.*1073+207T=) n.6679+207T= c.*1341+207T= (n.*1341+207T=) c.944-4977T= (n.944-4977T=) c.1172+164T= (n.1172+164T=) c.*791+207T= (n.*791+207T=) c.*687+207T= (n.*687+207T=) c.1030+207T= (n.1030+207T=) c.*1218+207T= (n.*1218+207T=) c.880+207T= (n.880+207T=) c.*1068+207T= (n.*1068+207T=) c.*909+207T= (n.*909+207T=) c.*569+207T= (n.*569+207T=) c.1156+207T= (n.1156+207T=) c.*597+207T= (n.*597+207T=) n.1527+207T= n.2840+207T= n.340+207T= n.2128+207T= n.1264+207T= c.1018+207T= (n.1018+207T=) c.853+207T= (n.853+207T=) c.1221+207T= (n.1221+207T=) c.1209+207T= (n.1209+207T=) n.494+207T= c.956-4977T= (n.956-4977T=) | |
14 | g.73212150C= | CA2146495621 | PSEN1 | c.1117+208C= (n.1117+208C=) c.1129+208C= (n.1129+208C=) n.1879+208C= c.*84+208C= (n.*84+208C=) n.1555+208C= c.1009+208C= (n.1009+208C=) c.*1073+208C= (n.*1073+208C=) n.6679+208C= c.*1341+208C= (n.*1341+208C=) c.944-4976C= (n.944-4976C=) c.1172+165C= (n.1172+165C=) c.*791+208C= (n.*791+208C=) c.*687+208C= (n.*687+208C=) c.1030+208C= (n.1030+208C=) c.*1218+208C= (n.*1218+208C=) c.880+208C= (n.880+208C=) c.*1068+208C= (n.*1068+208C=) c.*909+208C= (n.*909+208C=) c.*569+208C= (n.*569+208C=) c.1156+208C= (n.1156+208C=) c.*597+208C= (n.*597+208C=) n.1527+208C= n.2840+208C= n.340+208C= n.2128+208C= n.1264+208C= c.1018+208C= (n.1018+208C=) c.853+208C= (n.853+208C=) c.1221+208C= (n.1221+208C=) c.1209+208C= (n.1209+208C=) n.494+208C= c.956-4976C= (n.956-4976C=) | |
14 | g.73212150C>T | CA2146495622 | PSEN1 | c.1117+208C>T (n.1117+208C>T) c.1129+208C>T (n.1129+208C>T) n.1879+208C>T c.*84+208C>T (n.*84+208C>T) n.1555+208C>T c.1009+208C>T (n.1009+208C>T) c.*1073+208C>T (n.*1073+208C>T) n.6679+208C>T c.*1341+208C>T (n.*1341+208C>T) c.944-4976C>T (n.944-4976C>T) c.1172+165C>T (n.1172+165C>T) c.*791+208C>T (n.*791+208C>T) c.*687+208C>T (n.*687+208C>T) c.1030+208C>T (n.1030+208C>T) c.*1218+208C>T (n.*1218+208C>T) c.880+208C>T (n.880+208C>T) c.*1068+208C>T (n.*1068+208C>T) c.*909+208C>T (n.*909+208C>T) c.*569+208C>T (n.*569+208C>T) c.1156+208C>T (n.1156+208C>T) c.*597+208C>T (n.*597+208C>T) n.1527+208C>T n.2840+208C>T n.340+208C>T n.2128+208C>T n.1264+208C>T c.1018+208C>T (n.1018+208C>T) c.853+208C>T (n.853+208C>T) c.1221+208C>T (n.1221+208C>T) c.1209+208C>T (n.1209+208C>T) n.494+208C>T c.956-4976C>T (n.956-4976C>T) | dbSNP |
14 | g.73212151_73212153dup | CA708388984 | PSEN1 | c.1117+209_1117+211dup (n.1117+209_1117+211dup) c.1129+209_1129+211dup (n.1129+209_1129+211dup) n.1879+209_1879+211dup c.*84+209_*84+211dup (n.*84+209_*84+211dup) n.1555+209_1555+211dup c.1009+209_1009+211dup (n.1009+209_1009+211dup) c.*1073+209_*1073+211dup (n.*1073+209_*1073+211dup) n.6679+209_6679+211dup c.*1341+209_*1341+211dup (n.*1341+209_*1341+211dup) c.944-4975_944-4973dup (n.944-4975_944-4973dup) c.1172+166_1172+168dup (n.1172+166_1172+168dup) c.*791+209_*791+211dup (n.*791+209_*791+211dup) c.*687+209_*687+211dup (n.*687+209_*687+211dup) c.1030+209_1030+211dup (n.1030+209_1030+211dup) c.*1218+209_*1218+211dup (n.*1218+209_*1218+211dup) c.880+209_880+211dup (n.880+209_880+211dup) c.*1068+209_*1068+211dup (n.*1068+209_*1068+211dup) c.*909+209_*909+211dup (n.*909+209_*909+211dup) c.*569+209_*569+211dup (n.*569+209_*569+211dup) c.1156+209_1156+211dup (n.1156+209_1156+211dup) c.*597+209_*597+211dup (n.*597+209_*597+211dup) n.1527+209_1527+211dup n.2840+209_2840+211dup n.340+209_340+211dup n.2128+209_2128+211dup n.1264+209_1264+211dup c.1018+209_1018+211dup (n.1018+209_1018+211dup) c.853+209_853+211dup (n.853+209_853+211dup) c.1221+209_1221+211dup (n.1221+209_1221+211dup) c.1209+209_1209+211dup (n.1209+209_1209+211dup) n.494+209_494+211dup c.956-4975_956-4973dup (n.956-4975_956-4973dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212151G>A | CA262618889 | PSEN1 | c.1117+209G>A (n.1117+209G>A) c.1129+209G>A (n.1129+209G>A) n.1879+209G>A c.*84+209G>A (n.*84+209G>A) n.1555+209G>A c.1009+209G>A (n.1009+209G>A) c.*1073+209G>A (n.*1073+209G>A) n.6679+209G>A c.*1341+209G>A (n.*1341+209G>A) c.944-4975G>A (n.944-4975G>A) c.1172+166G>A (n.1172+166G>A) c.*791+209G>A (n.*791+209G>A) c.*687+209G>A (n.*687+209G>A) c.1030+209G>A (n.1030+209G>A) c.*1218+209G>A (n.*1218+209G>A) c.880+209G>A (n.880+209G>A) c.*1068+209G>A (n.*1068+209G>A) c.*909+209G>A (n.*909+209G>A) c.*569+209G>A (n.*569+209G>A) c.1156+209G>A (n.1156+209G>A) c.*597+209G>A (n.*597+209G>A) n.1527+209G>A n.2840+209G>A n.340+209G>A n.2128+209G>A n.1264+209G>A c.1018+209G>A (n.1018+209G>A) c.853+209G>A (n.853+209G>A) c.1221+209G>A (n.1221+209G>A) c.1209+209G>A (n.1209+209G>A) n.494+209G>A c.956-4975G>A (n.956-4975G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.73212151G= | CA2146495623 | PSEN1 | c.1117+209G= (n.1117+209G=) c.1129+209G= (n.1129+209G=) n.1879+209G= c.*84+209G= (n.*84+209G=) n.1555+209G= c.1009+209G= (n.1009+209G=) c.*1073+209G= (n.*1073+209G=) n.6679+209G= c.*1341+209G= (n.*1341+209G=) c.944-4975G= (n.944-4975G=) c.1172+166G= (n.1172+166G=) c.*791+209G= (n.*791+209G=) c.*687+209G= (n.*687+209G=) c.1030+209G= (n.1030+209G=) c.*1218+209G= (n.*1218+209G=) c.880+209G= (n.880+209G=) c.*1068+209G= (n.*1068+209G=) c.*909+209G= (n.*909+209G=) c.*569+209G= (n.*569+209G=) c.1156+209G= (n.1156+209G=) c.*597+209G= (n.*597+209G=) n.1527+209G= n.2840+209G= n.340+209G= n.2128+209G= n.1264+209G= c.1018+209G= (n.1018+209G=) c.853+209G= (n.853+209G=) c.1221+209G= (n.1221+209G=) c.1209+209G= (n.1209+209G=) n.494+209G= c.956-4975G= (n.956-4975G=) | |
14 | g.73212152C= | CA2146495624 | PSEN1 | c.1117+210C= (n.1117+210C=) c.1129+210C= (n.1129+210C=) n.1879+210C= c.*84+210C= (n.*84+210C=) n.1555+210C= c.1009+210C= (n.1009+210C=) c.*1073+210C= (n.*1073+210C=) n.6679+210C= c.*1341+210C= (n.*1341+210C=) c.944-4974C= (n.944-4974C=) c.1172+167C= (n.1172+167C=) c.*791+210C= (n.*791+210C=) c.*687+210C= (n.*687+210C=) c.1030+210C= (n.1030+210C=) c.*1218+210C= (n.*1218+210C=) c.880+210C= (n.880+210C=) c.*1068+210C= (n.*1068+210C=) c.*909+210C= (n.*909+210C=) c.*569+210C= (n.*569+210C=) c.1156+210C= (n.1156+210C=) c.*597+210C= (n.*597+210C=) n.1527+210C= n.2840+210C= n.340+210C= n.2128+210C= n.1264+210C= c.1018+210C= (n.1018+210C=) c.853+210C= (n.853+210C=) c.1221+210C= (n.1221+210C=) c.1209+210C= (n.1209+210C=) n.494+210C= c.956-4974C= (n.956-4974C=) | |
14 | g.73212152C>G | CA708388990 | PSEN1 | c.1117+210C>G (n.1117+210C>G) c.1129+210C>G (n.1129+210C>G) n.1879+210C>G c.*84+210C>G (n.*84+210C>G) n.1555+210C>G c.1009+210C>G (n.1009+210C>G) c.*1073+210C>G (n.*1073+210C>G) n.6679+210C>G c.*1341+210C>G (n.*1341+210C>G) c.944-4974C>G (n.944-4974C>G) c.1172+167C>G (n.1172+167C>G) c.*791+210C>G (n.*791+210C>G) c.*687+210C>G (n.*687+210C>G) c.1030+210C>G (n.1030+210C>G) c.*1218+210C>G (n.*1218+210C>G) c.880+210C>G (n.880+210C>G) c.*1068+210C>G (n.*1068+210C>G) c.*909+210C>G (n.*909+210C>G) c.*569+210C>G (n.*569+210C>G) c.1156+210C>G (n.1156+210C>G) c.*597+210C>G (n.*597+210C>G) n.1527+210C>G n.2840+210C>G n.340+210C>G n.2128+210C>G n.1264+210C>G c.1018+210C>G (n.1018+210C>G) c.853+210C>G (n.853+210C>G) c.1221+210C>G (n.1221+210C>G) c.1209+210C>G (n.1209+210C>G) n.494+210C>G c.956-4974C>G (n.956-4974C>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.73212152C>T | CA964615145 | PSEN1 | c.1117+210C>T (n.1117+210C>T) c.1129+210C>T (n.1129+210C>T) n.1879+210C>T c.*84+210C>T (n.*84+210C>T) n.1555+210C>T c.1009+210C>T (n.1009+210C>T) c.*1073+210C>T (n.*1073+210C>T) n.6679+210C>T c.*1341+210C>T (n.*1341+210C>T) c.944-4974C>T (n.944-4974C>T) c.1172+167C>T (n.1172+167C>T) c.*791+210C>T (n.*791+210C>T) c.*687+210C>T (n.*687+210C>T) c.1030+210C>T (n.1030+210C>T) c.*1218+210C>T (n.*1218+210C>T) c.880+210C>T (n.880+210C>T) c.*1068+210C>T (n.*1068+210C>T) c.*909+210C>T (n.*909+210C>T) c.*569+210C>T (n.*569+210C>T) c.1156+210C>T (n.1156+210C>T) c.*597+210C>T (n.*597+210C>T) n.1527+210C>T n.2840+210C>T n.340+210C>T n.2128+210C>T n.1264+210C>T c.1018+210C>T (n.1018+210C>T) c.853+210C>T (n.853+210C>T) c.1221+210C>T (n.1221+210C>T) c.1209+210C>T (n.1209+210C>T) n.494+210C>T c.956-4974C>T (n.956-4974C>T) | gnomAD v3 gnomAD v4 |
14 | g.73212153dup | CA2802117719 | PSEN1 | c.1117+211dup (n.1117+211dup) c.1129+211dup (n.1129+211dup) n.1879+211dup c.*84+211dup (n.*84+211dup) n.1555+211dup c.1009+211dup (n.1009+211dup) c.*1073+211dup (n.*1073+211dup) n.6679+211dup c.*1341+211dup (n.*1341+211dup) c.944-4973dup (n.944-4973dup) c.1172+168dup (n.1172+168dup) c.*791+211dup (n.*791+211dup) c.*687+211dup (n.*687+211dup) c.1030+211dup (n.1030+211dup) c.*1218+211dup (n.*1218+211dup) c.880+211dup (n.880+211dup) c.*1068+211dup (n.*1068+211dup) c.*909+211dup (n.*909+211dup) c.*569+211dup (n.*569+211dup) c.1156+211dup (n.1156+211dup) c.*597+211dup (n.*597+211dup) n.1527+211dup n.2840+211dup n.340+211dup n.2128+211dup n.1264+211dup c.1018+211dup (n.1018+211dup) c.853+211dup (n.853+211dup) c.1221+211dup (n.1221+211dup) c.1209+211dup (n.1209+211dup) n.494+211dup c.956-4973dup (n.956-4973dup) |