Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10142097G>C | CA10578180 | VHL | c.250G>C (p.Val84Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142097G>A | CA351750580 | VHL | c.250G>A (p.Val84Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142097G>T | CA020170 | VHL | c.250G>T (p.Val84Leu) | ClinVar dbSNP gnomAD v4 |