| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10149866dup | CA645369326 | VHL | c.*220dup (n.*220dup) c.679dup (n.679dup) c.654dup (p.Arg219GlnfsTer?) c.543dup (p.Arg182GlnfsTer?) c.420dup (p.Arg141GlnfsTer?) n.679dup c.*97dup (n.*97dup) | ClinVar dbSNP |
| 3 | g.10149866C= | CA3057222492 | VHL | c.*220C= (n.*220C=) c.679C= (n.679C=) c.654C= (p.Val218=) c.543C= (p.Val181=) c.420C= (p.Val140=) n.679C= c.*97C= (n.*97C=) | dbSNP dbSNP |