| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52403251G>T | CA353098950 | BAP1 | c.1777C>A (p.Gln593Lys) c.1723C>A (p.Gln575Lys) n.184C>A c.120-410C>A c.280C>A (p.Gln94Lys) | dbSNP |
| 3 | g.52403251G>A | CA16617996 | BAP1 | c.1777C>T (p.Gln593Ter) c.1723C>T (p.Gln575Ter) n.184C>T c.120-410C>T c.280C>T (p.Gln94Ter) | ClinVar dbSNP |
| 3 | g.52403251G>C | CA353098949 | BAP1 | c.1777C>G (p.Gln593Glu) c.1723C>G (p.Gln575Glu) n.184C>G c.120-410C>G c.280C>G (p.Gln94Glu) | dbSNP |