Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370508G>A | CA025646 | BRCA2 | c.8438G>A (p.Gly2813Glu) c.8069G>A (p.Gly2690Glu) c.905G>A (p.Gly302Glu) c.8446G>A (n.8446G>A) c.1003G>A c.8342G>A (p.Gly2781Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32370508G>C | CA387752559 | BRCA2 | c.8438G>C (p.Gly2813Ala) c.8069G>C (p.Gly2690Ala) c.905G>C (p.Gly302Ala) c.8446G>C (n.8446G>C) c.1003G>C c.8342G>C (p.Gly2781Ala) | dbSNP |