| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52408056T>C | CA143983 | BAP1 | c.277A>G (p.Thr93Ala) c.40A>G (p.Thr14Ala) n.277A>G c.*18A>G (n.*18A>G) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.52408056T>A | CA2437131 | BAP1 | c.277A>T (p.Thr93Ser) c.40A>T (p.Thr14Ser) n.277A>T c.*18A>T (n.*18A>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.52408056T>G | CA353112574 | BAP1 | c.277A>C (p.Thr93Pro) c.40A>C (p.Thr14Pro) n.277A>C c.*18A>C (n.*18A>C) | dbSNP |