| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149808G>T | CA020418 | VHL | c.*162G>T (n.*162G>T) c.621G>T (n.621G>T) c.596G>T (p.Cys199Phe) c.485G>T (p.Cys162Phe) c.362G>T (p.Cys121Phe) n.621G>T c.*39G>T (n.*39G>T) | ClinVar dbSNP ExAC COSMIC |
| 3 | g.10149808G>A | CA357010 | VHL | c.*162G>A (n.*162G>A) c.621G>A (n.621G>A) c.596G>A (p.Cys199Tyr) c.485G>A (p.Cys162Tyr) c.362G>A (p.Cys121Tyr) n.621G>A c.*39G>A (n.*39G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149808G>C | CA351756124 | VHL | c.*162G>C (n.*162G>C) c.621G>C (n.621G>C) c.596G>C (p.Cys199Ser) c.485G>C (p.Cys162Ser) c.362G>C (p.Cys121Ser) n.621G>C c.*39G>C (n.*39G>C) | ClinVar dbSNP gnomAD v4 |