| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10142001G>C | CA351748337 | VHL | c.154G>C (p.Glu52Gln) | dbSNP |
| 3 | g.10142001G>T | CA020061 | VHL | c.154G>T (p.Glu52Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142001G>A | CA020056 | VHL | c.154G>A (p.Glu52Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |