| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52048558G>A | CA224056 | PKHD1 | c.2341C>T (p.Arg781Ter) c.1630C>T (p.Arg544Ter) c.2266C>T (p.Arg756Ter) c.481C>T (p.Arg161Ter) n.2617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52048558G>C | CA364443561 | PKHD1 | c.2341C>G (p.Arg781Gly) c.1630C>G (p.Arg544Gly) c.2266C>G (p.Arg756Gly) c.481C>G (p.Arg161Gly) n.2617C>G | ClinVar dbSNP gnomAD v4 |