| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149921C>A | CA432423844 | VHL | c.*275C>A (n.*275C>A) c.734C>A (n.734C>A) c.709C>A (p.Arg237=) c.598C>A (p.Arg200=) c.475C>A (p.Arg159=) n.734C>A c.*152C>A (n.*152C>A) | dbSNP |
| 3 | g.10149921C>G | CA351756569 | VHL | c.*275C>G (n.*275C>G) c.734C>G (n.734C>G) c.709C>G (p.Arg237Gly) c.598C>G (p.Arg200Gly) c.475C>G (p.Arg159Gly) n.734C>G c.*152C>G (n.*152C>G) | dbSNP |
| 3 | g.10149921C>T | CA020510 | VHL | c.*275C>T (n.*275C>T) c.734C>T (n.734C>T) c.709C>T (p.Arg237Trp) c.598C>T (p.Arg200Trp) c.475C>T (p.Arg159Trp) n.734C>T c.*152C>T (n.*152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |