| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.36092741del | CA16621729 | WDR62 | c.2263del (p.His755ThrfsTer?) c.*953del (n.*953del) c.53del c.2248del (p.His750ThrfsTer?) c.2257del (p.His753ThrfsTer?) c.1912del (p.His638ThrfsTer?) c.*1060del (n.*1060del) n.246del c.537del n.2586del c.*662del (n.*662del) c.*1092del (n.*1092del) c.461del c.649del c.1255del (p.His419ThrfsTer?) c.841del (p.His281ThrfsTer?) c.694del (p.His232ThrfsTer?) c.10del (p.His4ThrfsTer?) n.2290del n.2178del | ClinVar dbSNP |
| 19 | g.36092741C= | CA2333966467 | WDR62 | c.2263C= (p.His755=) c.*953C= (n.*953C=) c.53C= c.2248C= (p.His750=) c.2257C= (p.His753=) c.1912C= (p.His638=) c.*1060C= (n.*1060C=) n.246C= c.537C= n.2586C= c.*662C= (n.*662C=) c.*1092C= (n.*1092C=) c.461C= c.649C= c.1255C= (p.His419=) c.841C= (p.His281=) c.694C= (p.His232=) c.10C= (p.His4=) n.2290C= n.2178C= | dbSNP dbSNP |