| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61780307del | CA16620525 | BRIP1 | c.1471del (n.1471del) c.1889del (p.Thr630AsnfsTer?) c.1382del (p.Thr461AsnfsTer?) n.629del c.*1315del (n.*1315del) n.4068del c.1667del (p.Thr556AsnfsTer?) c.1889del (p.Thr630AsnfsTer17) n.362del c.582del c.1794+533del (n.1794+533del) c.1406del (p.Thr469AsnfsTer17) c.1406del (p.Thr469AsnfsTer?) c.1346del (p.Thr449AsnfsTer17) c.-72del (n.-72del) | ClinVar dbSNP |
| 17 | g.61780307G= | CA2269170272 | BRIP1 | c.1471C= (n.1471C=) c.1889C= (p.Thr630=) c.1382C= (p.Thr461=) n.629C= c.*1315C= (n.*1315C=) n.4068C= c.1667C= (p.Thr556=) n.362C= c.582C= c.1794+533C= (n.1794+533C=) c.1406C= (p.Thr469=) c.1346C= (p.Thr449=) c.-72C= (n.-72C=) | dbSNP dbSNP |