Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32355219C>G | CA025044 | BRCA2 | c.7366C>G (p.Gln2456Glu) c.6997C>G (p.Gln2333Glu) n.7366C>G c.7270C>G (p.Gln2424Glu) | ClinVar dbSNP |
13 | g.32355219C>T | CA10579735 | BRCA2 | c.7366C>T (p.Gln2456Ter) c.6997C>T (p.Gln2333Ter) n.7366C>T c.7270C>T (p.Gln2424Ter) | ClinVar dbSNP |
13 | g.32355219C>A | CA387741542 | BRCA2 | c.7366C>A (p.Gln2456Lys) c.6997C>A (p.Gln2333Lys) n.7366C>A c.7270C>A (p.Gln2424Lys) | dbSNP gnomAD v4 |