| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149790A>G | CA020394 | VHL | c.*144A>G (n.*144A>G) c.603A>G (n.603A>G) c.578A>G (p.Tyr193Cys) c.467A>G (p.Tyr156Cys) c.344A>G (p.Tyr115Cys) n.603A>G c.*21A>G (n.*21A>G) | ClinVar dbSNP |
| 3 | g.10149790A>T | CA351756047 | VHL | c.*144A>T (n.*144A>T) c.603A>T (n.603A>T) c.578A>T (p.Tyr193Phe) c.467A>T (p.Tyr156Phe) c.344A>T (p.Tyr115Phe) n.603A>T c.*21A>T (n.*21A>T) | dbSNP |
| 3 | g.10149790A= | CA1345062134 | VHL | c.*144A= (n.*144A=) c.603A= (n.603A=) c.578A= (p.Tyr193=) c.467A= (p.Tyr156=) c.344A= (p.Tyr115=) n.603A= c.*21A= (n.*21A=) | dbSNP |