Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337627T>A | CA16619695 | BRCA2 | c.3272T>A (p.Leu1091Ter) c.2903T>A (p.Leu968Ter) n.3272T>A | ClinVar dbSNP |
13 | g.32337627T>C | CA387776056 | BRCA2 | c.3272T>C (p.Leu1091Ser) c.2903T>C (p.Leu968Ser) n.3272T>C | ClinVar dbSNP gnomAD v4 |