| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10142166C>G | CA020257 | VHL | c.319C>G (p.Arg107Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142166C>T | CA351751195 | VHL | c.319C>T (p.Arg107Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142166C>A | CA351751190 | VHL | c.319C>A (p.Arg107Ser) | ClinVar dbSNP |
| 3 | g.10142166C= | CA1345066447 | VHL | c.319C= (p.Arg107=) | dbSNP |