| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61799200G>C | CA400483622 | BRIP1 | c.733C>G (p.Gln245Glu) c.1240C>G (p.Gln414Glu) n.2981C>G c.1018C>G (p.Gln340Glu) c.818C>G (n.818C>G) c.757C>G (p.Gln253Glu) c.697C>G (p.Gln233Glu) | dbSNP |
| 17 | g.61799200G>A | CA165277 | BRIP1 | c.733C>T (p.Gln245Ter) c.1240C>T (p.Gln414Ter) n.2981C>T c.1018C>T (p.Gln340Ter) c.818C>T (n.818C>T) c.757C>T (p.Gln253Ter) c.697C>T (p.Gln233Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |