Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337326A>C | CA387774522 | BRCA2 | c.2971A>C (p.Asn991His) c.2602A>C (p.Asn868His) n.2971A>C | dbSNP |
13 | g.32337326A>T | CA387774524 | BRCA2 | c.2971A>T (p.Asn991Tyr) c.2602A>T (p.Asn868Tyr) n.2971A>T | dbSNP |
13 | g.32337326A>G | CA016928 | BRCA2 | c.2971A>G (p.Asn991Asp) c.2602A>G (p.Asn868Asp) n.2971A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |