| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045712dup | CA003713 | BRCA1 | c.5555dup (p.Tyr1852Ter) c.5558dup (p.Tyr1853Ter) c.5432dup (p.Tyr1811Ter) c.5552dup (p.Tyr1851Ter) c.5480dup (p.Tyr1827Ter) c.2246dup (p.Tyr749Ter) c.2108dup (p.Tyr703Ter) c.4670dup (p.Tyr1557Ter) c.5435dup (p.Tyr1812Ter) c.5624dup (p.Tyr1875Ter) c.5417dup (p.Tyr1806Ter) c.2120dup (p.Tyr707Ter) n.1441dup n.922dup c.5621dup (p.Tyr1874Ter) c.1945dup c.2132dup (p.Tyr711Ter) c.*5341dup (n.*5341dup) c.*72dup (n.*72dup) c.488dup (p.Tyr163Ter) c.1031dup (p.Tyr344Ter) c.257dup (p.Tyr86Ter) n.5694dup n.5735dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43045712T= | CA2260761042 | BRCA1 | c.5555A= (p.Tyr1852=) c.5558A= (p.Tyr1853=) c.5432A= (p.Tyr1811=) c.5552A= (p.Tyr1851=) c.5480A= (p.Tyr1827=) c.2246A= (p.Tyr749=) c.2108A= (p.Tyr703=) c.4670A= (p.Tyr1557=) c.5435A= (p.Tyr1812=) c.5624A= (p.Tyr1875=) c.5417A= (p.Tyr1806=) c.2120A= (p.Tyr707=) n.1441A= n.922A= c.5621A= (p.Tyr1874=) c.1945A= c.2132A= (p.Tyr711=) c.*5341A= (n.*5341A=) c.*72A= (n.*72A=) c.488A= (p.Tyr163=) c.1031A= (p.Tyr344=) c.257A= (p.Tyr86=) n.5694A= n.5735A= | dbSNP dbSNP |