| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61801327G>T | CA501151866 | BRIP1 | c.559C>A (p.Arg187=) c.1066C>A (p.Arg356=) n.2807C>A c.919-2028C>A (n.919-2028C>A) c.644C>A (n.644C>A) c.583C>A (p.Arg195=) c.523C>A (p.Arg175=) | dbSNP |
| 17 | g.61801327G>C | CA400484005 | BRIP1 | c.559C>G (p.Arg187Gly) c.1066C>G (p.Arg356Gly) n.2807C>G c.919-2028C>G (n.919-2028C>G) c.644C>G (n.644C>G) c.583C>G (p.Arg195Gly) c.523C>G (p.Arg175Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801327G>A | CA298869 | BRIP1 | c.559C>T (p.Arg187Ter) c.1066C>T (p.Arg356Ter) n.2807C>T c.919-2028C>T (n.919-2028C>T) c.644C>T (n.644C>T) c.583C>T (p.Arg195Ter) c.523C>T (p.Arg175Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |