Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340178del | CA023272 | BRCA2 | c.5823del (p.Val1942PhefsTer21) c.5454del (p.Val1819PhefsTer21) n.5823del | ClinVar dbSNP |
13 | g.32340177_32340178del | CA2580087781 | BRCA2 | c.5822_5823del (p.Lys1941SerfsTer3) c.5453_5454del (p.Lys1818SerfsTer3) n.5822_5823del | ClinVar dbSNP |