| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52079920G>A | CA234592 | PKHD1 | c.370C>T (p.Arg124Ter) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52079920G>T | CA450421717 | PKHD1 | c.370C>A (p.Arg124=) n.646C>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.52079920G= | CA1628651412 | PKHD1 | c.370C= (p.Arg124=) n.646C= | dbSNP |