| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.64099773C>A | CA129419 | PRICKLE2,PRICKLE2-AS1 | c.1981G>T (p.Val661Phe) c.1813G>T (p.Val605Phe) n.414G>T n.2452G>T n.3147C>A c.2179G>T (p.Val727Phe) c.2089G>T (p.Val697Phe) c.2071G>T (p.Val691Phe) c.1903G>T (p.Val635Phe) c.1552G>T (p.Val518Phe) c.*69G>T (n.*69G>T) c.1441G>T (p.Val481Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.64099773C= | CA1370512115 | PRICKLE2,PRICKLE2-AS1 | c.1981G= (p.Val661=) c.1813G= (p.Val605=) n.414G= n.2452G= n.3147C= c.2179G= (p.Val727=) c.2089G= (p.Val697=) c.2071G= (p.Val691=) c.1903G= (p.Val635=) c.1552G= (p.Val518=) c.*69G= (n.*69G=) c.1441G= (p.Val481=) | dbSNP |