| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61716051G>C | CA400479816 | BRIP1 | c.2522C>G (n.2522C>G) n.1132C>G n.1471C>G c.2392C>G (p.Arg798Gly) c.*1818C>G (n.*1818C>G) n.8269C>G c.2170C>G (p.Arg724Gly) n.522C>G n.805C>G c.1885C>G (p.Arg629Gly) n.721C>G c.457C>G (p.Arg153Gly) c.2452C>G (p.Arg818Gly) c.2332C>G (p.Arg778Gly) c.2251C>G (p.Arg751Gly) c.1969C>G (p.Arg657Gly) c.*33C>G (n.*33C>G) c.1909C>G (p.Arg637Gly) c.538C>G (p.Arg180Gly) | dbSNP |
| 17 | g.61716051G>A | CA253268 | BRIP1 | c.2522C>T (n.2522C>T) n.1132C>T n.1471C>T c.2392C>T (p.Arg798Ter) c.*1818C>T (n.*1818C>T) n.8269C>T c.2170C>T (p.Arg724Ter) n.522C>T n.805C>T c.1885C>T (p.Arg629Ter) n.721C>T c.457C>T (p.Arg153Ter) c.2452C>T (p.Arg818Ter) c.2332C>T (p.Arg778Ter) c.2251C>T (p.Arg751Ter) c.1969C>T (p.Arg657Ter) c.*33C>T (n.*33C>T) c.1909C>T (p.Arg637Ter) c.538C>T (p.Arg180Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |