| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51868036dup | CA339528 | PKHD1 | c.7560dup (p.Ala2521CysfsTer?) c.6918dup (p.Ala2307CysfsTer?) c.6849dup (p.Ala2284CysfsTer?) c.1635dup (p.Ala546CysfsTer?) c.7485dup (p.Ala2496CysfsTer?) c.7296dup (p.Ala2433CysfsTer?) c.5700dup (p.Ala1901CysfsTer?) n.7836dup | ClinVar dbSNP gnomAD v4 |
| 6 | g.51868036A= | CA3135080622 | PKHD1 | c.7560T= (p.His2520=) c.6918T= (p.His2306=) c.6849T= (p.His2283=) c.1635T= (p.His545=) c.7485T= (p.His2495=) c.7296T= (p.His2432=) c.5700T= (p.His1900=) n.7836T= | dbSNP dbSNP |