Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340645C>T | CA023826 | BRCA2 | c.6290C>T (p.Thr2097Met) c.5921C>T (p.Thr1974Met) n.6290C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340645C>G | CA387789009 | BRCA2 | c.6290C>G (p.Thr2097Arg) c.5921C>G (p.Thr1974Arg) n.6290C>G | dbSNP |
13 | g.32340645C>A | CA387789010 | BRCA2 | c.6290C>A (p.Thr2097Lys) c.5921C>A (p.Thr1974Lys) n.6290C>A | ClinVar dbSNP |