| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149822C>T | CA020450 | VHL | c.*176C>T (n.*176C>T) c.635C>T (n.635C>T) c.610C>T (p.Arg204Trp) c.499C>T (p.Arg167Trp) c.376C>T (p.Arg126Trp) n.635C>T c.*53C>T (n.*53C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149822C>G | CA020446 | VHL | c.*176C>G (n.*176C>G) c.635C>G (n.635C>G) c.610C>G (p.Arg204Gly) c.499C>G (p.Arg167Gly) c.376C>G (p.Arg126Gly) n.635C>G c.*53C>G (n.*53C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149822C= | CA1345062339 | VHL | c.*176C= (n.*176C=) c.635C= (n.635C=) c.610C= (p.Arg204=) c.499C= (p.Arg167=) c.376C= (p.Arg126=) n.635C= c.*53C= (n.*53C=) | dbSNP |