| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149847A>T | CA351756230 | VHL | c.*201A>T (n.*201A>T) c.660A>T (n.660A>T) c.635A>T (p.Tyr212Phe) c.524A>T (p.Tyr175Phe) c.401A>T (p.Tyr134Phe) n.660A>T c.*78A>T (n.*78A>T) | ClinVar dbSNP |
| 3 | g.10149847A>C | CA351756229 | VHL | c.*201A>C (n.*201A>C) c.660A>C (n.660A>C) c.635A>C (p.Tyr212Ser) c.524A>C (p.Tyr175Ser) c.401A>C (p.Tyr134Ser) n.660A>C c.*78A>C (n.*78A>C) | dbSNP |
| 3 | g.10149847A>G | CA020462 | VHL | c.*201A>G (n.*201A>G) c.660A>G (n.660A>G) c.635A>G (p.Tyr212Cys) c.524A>G (p.Tyr175Cys) c.401A>G (p.Tyr134Cys) n.660A>G c.*78A>G (n.*78A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |