| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076571del | CA002824 | BRCA1 | c.4398del (p.Asn1467IlefsTer?) c.4401del (p.Asn1468IlefsTer?) c.4275del (p.Asn1426IlefsTer?) c.4395del (p.Asn1466IlefsTer?) c.4323del (p.Asn1442IlefsTer?) c.1089del (p.Asn364IlefsTer?) c.951del (p.Asn318IlefsTer?) c.3513del (p.Asn1172IlefsTer?) c.4278del (p.Asn1427IlefsTer?) c.4467del (p.Asn1490IlefsTer?) c.4260del (p.Asn1421IlefsTer?) c.963del (p.Asn322IlefsTer?) c.1008del (p.Asn337IlefsTer?) c.4464del (p.Asn1489IlefsTer?) c.788del c.975del (p.Asn326IlefsTer?) c.*4184del (n.*4184del) c.692del c.714del (p.Asn239IlefsTer?) c.717del (p.Asn240IlefsTer?) c.5-12620del (n.5-12620del) c.-43-2050del (n.-43-2050del) c.-98-26381del (n.-98-26381del) n.292del n.4537del n.4578del | ClinVar dbSNP |
| 17 | g.43076571C= | CA3223341952 | BRCA1 | c.4398G= (p.Gln1466=) c.4401G= (p.Gln1467=) c.4275G= (p.Gln1425=) c.4395G= (p.Gln1465=) c.4323G= (p.Gln1441=) c.1089G= (p.Gln363=) c.951G= (p.Gln317=) c.3513G= (p.Gln1171=) c.4278G= (p.Gln1426=) c.4467G= (p.Gln1489=) c.4260G= (p.Gln1420=) c.963G= (p.Gln321=) c.1008G= (p.Gln336=) c.4464G= (p.Gln1488=) c.788G= c.975G= (p.Gln325=) c.*4184G= (n.*4184G=) c.692G= c.714G= (p.Gln238=) c.717G= (p.Gln239=) c.5-12620G= (n.5-12620G=) c.-43-2050G= (n.-43-2050G=) c.-98-26381G= (n.-98-26381G=) n.292G= n.4537G= n.4578G= | dbSNP dbSNP |