| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52070431T>C | CA224089 | PKHD1 | c.682A>G (p.Ser228Gly) c.-30A>G (n.-30A>G) n.390-573T>C c.607A>G (p.Ser203Gly) n.958A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52070431T= | CA1628628071 | PKHD1 | c.682A= (p.Ser228=) c.-30A= (n.-30A=) n.390-573T= c.607A= (p.Ser203=) n.958A= | dbSNP |