Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209627501_209627503delinsTTG | CA2484299938 | LAMB3 | c.1365_1367delinsCAA (p.Pro455=) c.1173_1175delinsCAA (p.Pro391=) | |
1 | g.209627501_209627506del | CA2650322638 | LAMB3 | c.1362_1367del (p.Pro455_Asn456del) c.1170_1175del (p.Pro391_Asn392del) | gnomAD v4 |
1 | g.209627502T>A | CA344591213 | LAMB3 | c.1366A>T (p.Asn456Tyr) c.1174A>T (p.Asn392Tyr) | |
1 | g.209627502T>C | CA344591214 | LAMB3 | c.1366A>G (p.Asn456Asp) c.1174A>G (p.Asn392Asp) | |
1 | g.209627502T>G | CA344591215 | LAMB3 | c.1366A>C (p.Asn456His) c.1174A>C (p.Asn392His) | |
1 | g.209627502_209627503del | CA274239 | LAMB3 | c.1365_1366del (p.Asn456ArgfsTer7) c.1173_1174del (p.Asn392ArgfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209627503G>A | CA423031632 | LAMB3 | c.1365C>T (p.Pro455=) c.1173C>T (p.Pro391=) | ClinVar dbSNP gnomAD v4 |
1 | g.209627503G>C | CA423031633 | LAMB3 | c.1365C>G (p.Pro455=) c.1173C>G (p.Pro391=) | |
1 | g.209627503G>T | CA423031634 | LAMB3 | c.1365C>A (p.Pro455=) c.1173C>A (p.Pro391=) | |
1 | g.209627505del | CA645532778 | LAMB3 | c.1365del (p.Asn456ThrfsTer?) c.1173del (p.Asn392ThrfsTer?) | COSMIC |
1 | g.209627504G>A | CA344591216 | LAMB3 | c.1364C>T (p.Pro455Leu) c.1172C>T (p.Pro391Leu) | |
1 | g.209627504G>C | CA344591217 | LAMB3 | c.1364C>G (p.Pro455Arg) c.1172C>G (p.Pro391Arg) | gnomAD v4 |
1 | g.209627504G= | CA2484299939 | LAMB3 | c.1364C= (p.Pro455=) c.1172C= (p.Pro391=) | |
1 | g.209627504G>T | CA344591218 | LAMB3 | c.1364C>A (p.Pro455His) c.1172C>A (p.Pro391His) | dbSNP gnomAD v4 |
1 | g.209627505G>A | CA344591219 | LAMB3 | c.1363C>T (p.Pro455Ser) c.1171C>T (p.Pro391Ser) | |
1 | g.209627505G>C | CA344591220 | LAMB3 | c.1363C>G (p.Pro455Ala) c.1171C>G (p.Pro391Ala) | |
1 | g.209627505G>T | CA344591221 | LAMB3 | c.1363C>A (p.Pro455Thr) c.1171C>A (p.Pro391Thr) | |
1 | g.209627506C>A | CA423031638 | LAMB3 | c.1362G>T (p.Leu454=) c.1170G>T (p.Leu390=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209627506C= | CA2484299940 | LAMB3 | c.1362G= (p.Leu454=) c.1170G= (p.Leu390=) | |
1 | g.209627506C>G | CA423031640 | LAMB3 | c.1362G>C (p.Leu454=) c.1170G>C (p.Leu390=) | |
1 | g.209627506C>T | CA423031641 | LAMB3 | c.1362G>A (p.Leu454=) c.1170G>A (p.Leu390=) | gnomAD v4 |
1 | g.209627507A= | CA2484299941 | LAMB3 | c.1361T= (p.Leu454=) c.1169T= (p.Leu390=) | |
1 | g.209627507A>C | CA344591222 | LAMB3 | c.1361T>G (p.Leu454Arg) c.1169T>G (p.Leu390Arg) | |
1 | g.209627507A>G | CA344591223 | LAMB3 | c.1361T>C (p.Leu454Pro) c.1169T>C (p.Leu390Pro) | |
1 | g.209627507A>T | CA344591224 | LAMB3 | c.1361T>A (p.Leu454Gln) c.1169T>A (p.Leu390Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209627508G>A | CA423031645 | LAMB3 | c.1360C>T (p.Leu454=) c.1168C>T (p.Leu390=) | |
1 | g.209627508G>C | CA344591225 | LAMB3 | c.1360C>G (p.Leu454Val) c.1168C>G (p.Leu390Val) | |
1 | g.209627508G= | CA2484299942 | LAMB3 | c.1360C= (p.Leu454=) c.1168C= (p.Leu390=) | |
1 | g.209627508G>T | CA344591226 | LAMB3 | c.1360C>A (p.Leu454Met) c.1168C>A (p.Leu390Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209627509A>C | CA344591228 | LAMB3 | c.1359T>G (p.Cys453Trp) c.1167T>G (p.Cys389Trp) | |
1 | g.209627509A>G | CA423031647 | LAMB3 | c.1359T>C (p.Cys453=) c.1167T>C (p.Cys389=) | |
1 | g.209627509A>T | CA344591227 | LAMB3 | c.1359T>A (p.Cys453Ter) c.1167T>A (p.Cys389Ter) | |
1 | g.209627509_209627510insT | CA2650322658 | LAMB3 | c.1358_1359insA (p.Cys453Ter) c.1166_1167insA (p.Cys389Ter) | gnomAD v4 |
1 | g.209627510C>A | CA344591229 | LAMB3 | c.1358G>T (p.Cys453Phe) c.1166G>T (p.Cys389Phe) | |
1 | g.209627510C>G | CA344591230 | LAMB3 | c.1358G>C (p.Cys453Ser) c.1166G>C (p.Cys389Ser) | |
1 | g.209627510C>T | CA344591231 | LAMB3 | c.1358G>A (p.Cys453Tyr) c.1166G>A (p.Cys389Tyr) | |
1 | g.209627511A= | CA2484299943 | LAMB3 | c.1357T= (p.Cys453=) c.1165T= (p.Cys389=) | |
1 | g.209627511A>C | CA1375610 | LAMB3 | c.1357T>G (p.Cys453Gly) c.1165T>G (p.Cys389Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209627511A>G | CA344591232 | LAMB3 | c.1357T>C (p.Cys453Arg) c.1165T>C (p.Cys389Arg) | |
1 | g.209627511A>T | CA344591233 | LAMB3 | c.1357T>A (p.Cys453Ser) c.1165T>A (p.Cys389Ser) | gnomAD v4 |
1 | g.209627513del | CA2697554892 | LAMB3 | c.1357del (p.Cys453ValfsTer?) c.1165del (p.Cys389ValfsTer?) | ClinVar |
1 | g.209627512A>C | CA423031653 | LAMB3 | c.1356T>G (p.Leu452=) c.1164T>G (p.Leu388=) | |
1 | g.209627512A>G | CA423031652 | LAMB3 | c.1356T>C (p.Leu452=) c.1164T>C (p.Leu388=) | |
1 | g.209627512A>T | CA423031651 | LAMB3 | c.1356T>A (p.Leu452=) c.1164T>A (p.Leu388=) | |
1 | g.209627513A>C | CA344591234 | LAMB3 | c.1355T>G (p.Leu452Arg) c.1163T>G (p.Leu388Arg) | |
1 | g.209627513A>G | CA344591235 | LAMB3 | c.1355T>C (p.Leu452Pro) c.1163T>C (p.Leu388Pro) | |
1 | g.209627513A>T | CA344591236 | LAMB3 | c.1355T>A (p.Leu452His) c.1163T>A (p.Leu388His) | |
1 | g.209627513_209627515del | CA2650322663 | LAMB3 | c.1353_1355del (p.Leu452del) c.1161_1163del (p.Leu388del) | gnomAD v4 |
1 | g.209627514G>A | CA344591237 | LAMB3 | c.1354C>T (p.Leu452Phe) c.1162C>T (p.Leu388Phe) | gnomAD v4 |
1 | g.209627514G>C | CA344591238 | LAMB3 | c.1354C>G (p.Leu452Val) c.1162C>G (p.Leu388Val) |