| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52050157C>T | CA274068 | PKHD1 | c.2279G>A (p.Arg760His) c.1568G>A (p.Arg523His) c.2204G>A (p.Arg735His) c.419G>A (p.Arg140His) n.2555G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52050157C= | CA1628638739 | PKHD1 | c.2279G= (p.Arg760=) c.1568G= (p.Arg523=) c.2204G= (p.Arg735=) c.419G= (p.Arg140=) n.2555G= | dbSNP |