| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61799125G>T | CA501151467 | BRIP1 | c.808C>A (p.Arg270=) c.1315C>A (p.Arg439=) n.3056C>A c.1093C>A (p.Arg365=) c.893C>A (n.893C>A) c.832C>A (p.Arg278=) c.772C>A (p.Arg258=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61799125G>C | CA400483419 | BRIP1 | c.808C>G (p.Arg270Gly) c.1315C>G (p.Arg439Gly) n.3056C>G c.1093C>G (p.Arg365Gly) c.893C>G (n.893C>G) c.832C>G (p.Arg278Gly) c.772C>G (p.Arg258Gly) | dbSNP |
| 17 | g.61799125G>A | CA288511 | BRIP1 | c.808C>T (p.Arg270Ter) c.1315C>T (p.Arg439Ter) n.3056C>T c.1093C>T (p.Arg365Ter) c.893C>T (n.893C>T) c.832C>T (p.Arg278Ter) c.772C>T (p.Arg258Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |