| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61847211G>T | CA400483405 | BRIP1 | c.517C>A (p.Arg173Ser) c.10C>A (p.Arg4Ser) n.2258C>A c.*5C>A (n.*5C>A) c.34C>A (p.Arg12Ser) | ClinVar dbSNP |
| 17 | g.61847211G>A | CA157719 | BRIP1 | c.517C>T (p.Arg173Cys) c.10C>T (p.Arg4Cys) n.2258C>T c.*5C>T (n.*5C>T) c.34C>T (p.Arg12Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61847211G>C | CA400483402 | BRIP1 | c.517C>G (p.Arg173Gly) c.10C>G (p.Arg4Gly) n.2258C>G c.*5C>G (n.*5C>G) c.34C>G (p.Arg12Gly) | dbSNP |