Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32326114C>G | CA387757037 | BRCA2 | c.439C>G (p.Gln147Glu) c.70C>G (p.Gln24Glu) n.310C>G c.*218C>G (n.*218C>G) n.637C>G n.439C>G | dbSNP |
13 | g.32326114C>T | CA020093 | BRCA2 | c.439C>T (p.Gln147Ter) c.70C>T (p.Gln24Ter) n.310C>T c.*218C>T (n.*218C>T) n.637C>T n.439C>T | ClinVar dbSNP |