Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32357753T>C | CA483439136 | BRCA2 | c.7629T>C (p.Tyr2543=) c.7260T>C (p.Tyr2420=) c.96T>C (p.Tyr32=) c.194T>C n.7629T>C c.7533T>C (p.Tyr2511=) | ClinVar dbSNP gnomAD v4 |
13 | g.32357753T>A | CA16619766 | BRCA2 | c.7629T>A (p.Tyr2543Ter) c.7260T>A (p.Tyr2420Ter) c.96T>A (p.Tyr32Ter) c.194T>A n.7629T>A c.7533T>A (p.Tyr2511Ter) | ClinVar dbSNP |