Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339465A>T | CA16619718 | BRCA2 | c.5110A>T (p.Arg1704Ter) c.4741A>T (p.Arg1581Ter) n.5110A>T | ClinVar dbSNP |
13 | g.32339465A>G | CA387784136 | BRCA2 | c.5110A>G (p.Arg1704Gly) c.4741A>G (p.Arg1581Gly) n.5110A>G | ClinVar dbSNP gnomAD v4 |