Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.52407210C>T | CA353109695 | BAP1 | c.544G>A (p.Glu182Lys) c.307G>A (p.Glu103Lys) n.259G>A n.437+189G>A c.*285G>A (n.*285G>A) | ClinVar dbSNP |
3 | g.52407210C>A | CA16611445 | BAP1 | c.544G>T (p.Glu182Ter) c.307G>T (p.Glu103Ter) n.259G>T n.437+189G>T c.*285G>T (n.*285G>T) | ClinVar dbSNP COSMIC |
3 | g.52407210C>G | CA353109694 | BAP1 | c.544G>C (p.Glu182Gln) c.307G>C (p.Glu103Gln) n.259G>C n.437+189G>C c.*285G>C (n.*285G>C) | dbSNP |