| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51753327G>A | CA224108 | PKHD1 | c.8824C>T (p.Arg2942Ter) c.8695C>T (p.Arg2899Ter) c.8686C>T (p.Arg2896Ter) c.8182C>T (p.Arg2728Ter) c.8113C>T (p.Arg2705Ter) c.2899C>T (p.Arg967Ter) c.8749C>T (p.Arg2917Ter) c.8629C>T (p.Arg2877Ter) c.8560C>T (p.Arg2854Ter) c.6964C>T (p.Arg2322Ter) c.*1428C>T (n.*1428C>T) n.9100C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.51753327G= | CA1628510213 | PKHD1 | c.8824C= (p.Arg2942=) c.8695C= (p.Arg2899=) c.8686C= (p.Arg2896=) c.8182C= (p.Arg2728=) c.8113C= (p.Arg2705=) c.2899C= (p.Arg967=) c.8749C= (p.Arg2917=) c.8629C= (p.Arg2877=) c.8560C= (p.Arg2854=) c.6964C= (p.Arg2322=) c.*1428C= (n.*1428C=) n.9100C= | dbSNP |