| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52402608G>A | CA129103 | BAP1 | c.2050C>T (p.Gln684Ter) c.1996C>T (p.Gln666Ter) n.723C>T c.249C>T c.622C>T (p.Gln208Ter) c.2119C>T (p.Gln707Ter) c.2074C>T (p.Gln692Ter) c.2065C>T (p.Gln689Ter) c.2005C>T (p.Gln669Ter) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 3 | g.52402608G>C | CA353096129 | BAP1 | c.2050C>G (p.Gln684Glu) c.1996C>G (p.Gln666Glu) n.723C>G c.249C>G c.622C>G (p.Gln208Glu) c.2119C>G (p.Gln707Glu) c.2074C>G (p.Gln692Glu) c.2065C>G (p.Gln689Glu) c.2005C>G (p.Gln669Glu) | dbSNP gnomAD v4 |
| 3 | g.52402608G= | CA1364834827 | BAP1 | c.2050C= (p.Gln684=) c.1996C= (p.Gln666=) n.723C= c.249C= c.622C= (p.Gln208=) c.2119C= (p.Gln707=) c.2074C= (p.Gln692=) c.2065C= (p.Gln689=) c.2005C= (p.Gln669=) | dbSNP |