| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051110dup | CA003446 | BRCA1 | c.5286dup (p.Leu1763AlafsTer?) c.5289dup (p.Leu1764AlafsTer?) c.5163dup (p.Leu1722AlafsTer?) c.5283dup (p.Leu1762AlafsTer?) c.5211dup (p.Leu1738AlafsTer?) c.1977dup (p.Leu660AlafsTer?) c.1839dup (p.Leu614AlafsTer?) c.4401dup (p.Leu1468AlafsTer?) c.5166dup (p.Leu1723AlafsTer?) c.5355dup (p.Leu1786AlafsTer?) c.5148dup (p.Leu1717AlafsTer?) c.1851dup (p.Leu618AlafsTer?) c.5352dup (p.Leu1785AlafsTer?) c.1676dup c.1863dup (p.Leu622AlafsTer?) c.*5072dup (n.*5072dup) c.219dup (p.Leu74AlafsTer?) c.762dup (p.Leu255AlafsTer?) c.-98-916dup (n.-98-916dup) n.5425dup n.5466dup | ClinVar dbSNP |
| 17 | g.43051110del | CA003447 | BRCA1 | c.5286del (p.Leu1763Ter) c.5289del (p.Leu1764Ter) c.5163del (p.Leu1722Ter) c.5283del (p.Leu1762Ter) c.5211del (p.Leu1738Ter) c.1977del (p.Leu660Ter) c.1839del (p.Leu614Ter) c.4401del (p.Leu1468Ter) c.5166del (p.Leu1723Ter) c.5355del (p.Leu1786Ter) c.5148del (p.Leu1717Ter) c.1851del (p.Leu618Ter) c.5352del (p.Leu1785Ter) c.1676del c.1863del (p.Leu622Ter) c.*5072del (n.*5072del) c.219del (p.Leu74Ter) c.762del (p.Leu255Ter) c.-98-916del (n.-98-916del) n.5425del n.5466del | ClinVar dbSNP |