Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10142055G>T | CA16602179 | VHL | c.208G>T (p.Glu70Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142055G>A | CA020108 | VHL | c.208G>A (p.Glu70Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142055G>C | CA351748955 | VHL | c.208G>C (p.Glu70Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142055G= | CA1345065695 | VHL | c.208G= (p.Glu70=) | dbSNP |