| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149804C>G | CA16621941 | VHL | c.*158C>G (n.*158C>G) c.617C>G (n.617C>G) c.592C>G (p.Arg198Gly) c.481C>G (p.Arg161Gly) c.358C>G (p.Arg120Gly) n.617C>G c.*35C>G (n.*35C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149804C>T | CA020408 | VHL | c.*158C>T (n.*158C>T) c.617C>T (n.617C>T) c.592C>T (p.Arg198Ter) c.481C>T (p.Arg161Ter) c.358C>T (p.Arg120Ter) n.617C>T c.*35C>T (n.*35C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149804C= | CA1345062224 | VHL | c.*158C= (n.*158C=) c.617C= (n.617C=) c.592C= (p.Arg198=) c.481C= (p.Arg161=) c.358C= (p.Arg120=) n.617C= c.*35C= (n.*35C=) | dbSNP |