Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370485_32370486del | CA025631 | BRCA2 | c.8415_8416del (p.Leu2805PhefsTer6) c.8046_8047del (p.Leu2682PhefsTer6) c.882_883del (p.Leu294PhefsTer6) c.8423_8424del (n.8423_8424del) c.980_981del c.8319_8320del (p.Leu2773PhefsTer6) | ClinVar dbSNP gnomAD v4 |
13 | g.32370484_32370486delinsC | CA025629 | BRCA2 | c.8414_8416delinsC (p.Leu2805SerfsTer6) c.8045_8047delinsC (p.Leu2682SerfsTer6) c.881_883delinsC (p.Leu294SerfsTer6) c.8422_8424delinsC (n.8422_8424delinsC) c.979_981delinsC c.8318_8320delinsC (p.Leu2773SerfsTer6) | ClinVar dbSNP |