| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379495C>A | CA025877 | BRCA2 | c.8933C>A (p.Ser2978Ter) c.*300C>A (n.*300C>A) c.8564C>A (p.Ser2855Ter) c.*495C>A (n.*495C>A) c.1400C>A (p.Ser467Ter) n.1060C>A c.8941C>A (n.8941C>A) c.1811C>A c.495C>A (n.495C>A) c.8837C>A (p.Ser2946Ter) c.8755-255C>A (n.8755-255C>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32379495C>G | CA025878 | BRCA2 | c.8933C>G (p.Ser2978Ter) c.*300C>G (n.*300C>G) c.8564C>G (p.Ser2855Ter) c.*495C>G (n.*495C>G) c.1400C>G (p.Ser467Ter) n.1060C>G c.8941C>G (n.8941C>G) c.1811C>G c.495C>G (n.495C>G) c.8837C>G (p.Ser2946Ter) c.8755-255C>G (n.8755-255C>G) | ClinVar dbSNP |