Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114354331G>A | CA2621123921 | TBX5 | c.*1201C>T (n.*1201C>T) | gnomAD v4 |
12 | g.114354334C= | CA2064632871 | TBX5 | c.*1198G= (n.*1198G=) | |
12 | g.114354334C>T | CA244261949 | TBX5 | c.*1198G>A (n.*1198G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354335C= | CA2064632872 | TBX5 | c.*1197G= (n.*1197G=) | |
12 | g.114354335C>T | CA683909183 | TBX5 | c.*1197G>A (n.*1197G>A) | dbSNP |
12 | g.114354336A= | CA2064632873 | TBX5 | c.*1196T= (n.*1196T=) | |
12 | g.114354336A>G | CA10640994 | TBX5 | c.*1196T>C (n.*1196T>C) | ClinVar dbSNP |
12 | g.114354338T>C | CA244261950 | TBX5 | c.*1194A>G (n.*1194A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354338T= | CA2064632874 | TBX5 | c.*1194A= (n.*1194A=) | |
12 | g.114354344A= | CA2064632875 | TBX5 | c.*1188T= (n.*1188T=) | |
12 | g.114354344A>C | CA244261956 | TBX5 | c.*1188T>G (n.*1188T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354344A>G | CA10640995 | TBX5 | c.*1188T>C (n.*1188T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354345T>C | CA607711355 | TBX5 | c.*1187A>G (n.*1187A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354345T= | CA2064632876 | TBX5 | c.*1187A= (n.*1187A=) | |
12 | g.114354351C>A | CA2621123922 | TBX5 | c.*1181G>T (n.*1181G>T) | gnomAD v4 |
12 | g.114354352T>C | CA244261957 | TBX5 | c.*1180A>G (n.*1180A>G) | dbSNP |
12 | g.114354352T= | CA2064632877 | TBX5 | c.*1180A= (n.*1180A=) | |
12 | g.114354353G>A | CA2621123923 | TBX5 | c.*1179C>T (n.*1179C>T) | gnomAD v4 |
12 | g.114354353G>T | CA2621123924 | TBX5 | c.*1179C>A (n.*1179C>A) | gnomAD v4 |
12 | g.114354359C>A | CA244261958 | TBX5 | c.*1173G>T (n.*1173G>T) | dbSNP |
12 | g.114354359C= | CA2064632878 | TBX5 | c.*1173G= (n.*1173G=) | |
12 | g.114354359C>G | CA683909209 | TBX5 | c.*1173G>C (n.*1173G>C) | dbSNP |
12 | g.114354362T>C | CA683909220 | TBX5 | c.*1170A>G (n.*1170A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354362T= | CA2064632879 | TBX5 | c.*1170A= (n.*1170A=) | |
12 | g.114354363A>G | CA2569777984 | TBX5 | c.*1169T>C (n.*1169T>C) | |
12 | g.114354365C>A | CA2528193818 | TBX5 | c.*1167G>T (n.*1167G>T) | |
12 | g.114354368A= | CA2064632881 | TBX5 | c.*1164T= (n.*1164T=) | |
12 | g.114354368A>G | CA2064632880 | TBX5 | c.*1164T>C (n.*1164T>C) | dbSNP |
12 | g.114354370C>T | CA2556542951 | TBX5 | c.*1162G>A (n.*1162G>A) | |
12 | g.114354371A>G | CA2501968040 | TBX5 | c.*1161T>C (n.*1161T>C) | |
12 | g.114354372C>T | CA2565041801 | TBX5 | c.*1160G>A (n.*1160G>A) | |
12 | g.114354379T>C | CA2064632883 | TBX5 | c.*1153A>G (n.*1153A>G) | dbSNP |
12 | g.114354379T= | CA2064632882 | TBX5 | c.*1153A= (n.*1153A=) | |
12 | g.114354380dup | CA683909221 | TBX5 | c.*1152dup (n.*1152dup) | dbSNP |
12 | g.114354381C>A | CA2621123925 | TBX5 | c.*1151G>T (n.*1151G>T) | gnomAD v4 |
12 | g.114354381C= | CA2064632884 | TBX5 | c.*1151G= (n.*1151G=) | |
12 | g.114354381C>T | CA952036736 | TBX5 | c.*1151G>A (n.*1151G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354383C>A | CA2621123926 | TBX5 | c.*1149G>T (n.*1149G>T) | gnomAD v4 |
12 | g.114354385_114354386delinsCT | CA2064632885 | TBX5 | c.*1146_*1147delinsAG (n.*1146_*1147delinsAG) | |
12 | g.114354386T>C | CA2621123928 | TBX5 | c.*1146A>G (n.*1146A>G) | gnomAD v4 |
12 | g.114354392dup | CA2621123927 | TBX5 | c.*1146dup (n.*1146dup) | gnomAD v4 |
12 | g.114354392del | CA952036737 | TBX5 | c.*1146del (n.*1146del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354387T>A | CA683909246 | TBX5 | c.*1145A>T (n.*1145A>T) | dbSNP |
12 | g.114354387T= | CA2064632886 | TBX5 | c.*1145A= (n.*1145A=) | |
12 | g.114354392T>A | CA683909249 | TBX5 | c.*1140A>T (n.*1140A>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354392T= | CA2064632887 | TBX5 | c.*1140A= (n.*1140A=) | |
12 | g.114354392_114354393insTTA | CA2537618433 | TBX5 | c.*1139_*1140insTAA (n.*1139_*1140insTAA) | |
12 | g.114354394A= | CA2064632888 | TBX5 | c.*1138T= (n.*1138T=) | |
12 | g.114354394A>T | CA607711356 | TBX5 | c.*1138T>A (n.*1138T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354395T>C | CA2529727790 | TBX5 | c.*1137A>G (n.*1137A>G) |