| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076516del | CA002859 | BRCA1 | c.4453del (p.Ser1485ValfsTer19) c.4456del (p.Ser1486ValfsTer19) c.4330del (p.Ser1444ValfsTer19) c.4450del (p.Ser1484ValfsTer19) c.4378del (p.Ser1460ValfsTer19) c.1144del (p.Ser382ValfsTer19) c.1006del (p.Ser336ValfsTer19) c.3568del (p.Ser1190ValfsTer19) c.4333del (p.Ser1445ValfsTer19) c.4522del (p.Ser1508ValfsTer19) c.4315del (p.Ser1439ValfsTer19) c.1018del (p.Ser340ValfsTer19) c.1063del (p.Ser355ValfsTer19) c.4519del (p.Ser1507ValfsTer19) c.843del c.1030del (p.Ser344ValfsTer19) c.*4239del (n.*4239del) c.769del (p.Ser257ValfsTer19) c.772del (p.Ser258ValfsTer?) c.5-12565del (n.5-12565del) c.-43-1995del (n.-43-1995del) c.-98-26326del (n.-98-26326del) n.347del n.4592del n.4633del | ClinVar dbSNP |
| 17 | g.43076516T= | CA2260775464 | BRCA1 | c.4453A= (p.Ser1485=) c.4456A= (p.Ser1486=) c.4330A= (p.Ser1444=) c.4450A= (p.Ser1484=) c.4378A= (p.Ser1460=) c.1144A= (p.Ser382=) c.1006A= (p.Ser336=) c.3568A= (p.Ser1190=) c.4333A= (p.Ser1445=) c.4522A= (p.Ser1508=) c.4315A= (p.Ser1439=) c.1018A= (p.Ser340=) c.1063A= (p.Ser355=) c.4519A= (p.Ser1507=) c.843A= c.1030A= (p.Ser344=) c.*4239A= (n.*4239A=) c.769A= (p.Ser257=) c.772A= (p.Ser258=) c.5-12565A= (n.5-12565A=) c.-43-1995A= (n.-43-1995A=) c.-98-26326A= (n.-98-26326A=) n.347A= n.4592A= n.4633A= | dbSNP dbSNP |