Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340099C>T | CA023133 | BRCA2 | c.5744C>T (p.Thr1915Met) c.5375C>T (p.Thr1792Met) n.5744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340099C>A | CA387786977 | BRCA2 | c.5744C>A (p.Thr1915Lys) c.5375C>A (p.Thr1792Lys) n.5744C>A | ClinVar dbSNP |
13 | g.32340099C>G | CA387786979 | BRCA2 | c.5744C>G (p.Thr1915Arg) c.5375C>G (p.Thr1792Arg) n.5744C>G | dbSNP |