| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61808634G>C | CA400484987 | BRIP1 | c.244C>G (p.Arg82Gly) c.751C>G (p.Arg251Gly) n.2492C>G c.268C>G (p.Arg90Gly) c.208C>G (p.Arg70Gly) | dbSNP |
| 17 | g.61808634G>T | CA400484988 | BRIP1 | c.244C>A (p.Arg82Ser) c.751C>A (p.Arg251Ser) n.2492C>A c.268C>A (p.Arg90Ser) c.208C>A (p.Arg70Ser) | dbSNP |
| 17 | g.61808634G>A | CA193144 | BRIP1 | c.244C>T (p.Arg82Cys) c.751C>T (p.Arg251Cys) n.2492C>T c.268C>T (p.Arg90Cys) c.208C>T (p.Arg70Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |