| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149820T>G | CA351756175 | VHL | c.*174T>G (n.*174T>G) c.633T>G (n.633T>G) c.608T>G (p.Val203Gly) c.497T>G (p.Val166Gly) c.374T>G (p.Val125Gly) n.633T>G c.*51T>G (n.*51T>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149820T>C | CA020442 | VHL | c.*174T>C (n.*174T>C) c.633T>C (n.633T>C) c.608T>C (p.Val203Ala) c.497T>C (p.Val166Ala) c.374T>C (p.Val125Ala) n.633T>C c.*51T>C (n.*51T>C) | ClinVar dbSNP |
| 3 | g.10149820T>A | CA351756176 | VHL | c.*174T>A (n.*174T>A) c.633T>A (n.633T>A) c.608T>A (p.Val203Asp) c.497T>A (p.Val166Asp) c.374T>A (p.Val125Asp) n.633T>A c.*51T>A (n.*51T>A) | ClinVar dbSNP COSMIC |