| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52058355G>A | CA274284 | PKHD1 | c.1480C>T (p.Arg494Ter) c.769C>T (p.Arg257Ter) c.1405C>T (p.Arg469Ter) n.1756C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52058355G>C | CA364425984 | PKHD1 | c.1480C>G (p.Arg494Gly) c.769C>G (p.Arg257Gly) c.1405C>G (p.Arg469Gly) n.1756C>G | dbSNP |