| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149819G>A | CA351756173 | VHL | c.*173G>A (n.*173G>A) c.632G>A (n.632G>A) c.607G>A (p.Val203Ile) c.496G>A (p.Val166Ile) c.373G>A (p.Val125Ile) n.632G>A c.*50G>A (n.*50G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149819G>T | CA020436 | VHL | c.*173G>T (n.*173G>T) c.632G>T (n.632G>T) c.607G>T (p.Val203Phe) c.496G>T (p.Val166Phe) c.373G>T (p.Val125Phe) n.632G>T c.*50G>T (n.*50G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149819G>C | CA351756174 | VHL | c.*173G>C (n.*173G>C) c.632G>C (n.632G>C) c.607G>C (p.Val203Leu) c.496G>C (p.Val166Leu) c.373G>C (p.Val125Leu) n.632G>C c.*50G>C (n.*50G>C) | dbSNP |