| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52042978T>C | CA236264 | PKHD1 | c.2978A>G (p.His993Arg) c.2267A>G (p.His756Arg) c.2903A>G (p.His968Arg) c.1118A>G (p.His373Arg) n.3254A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52042978T= | CA1628626118 | PKHD1 | c.2978A= (p.His993=) c.2267A= (p.His756=) c.2903A= (p.His968=) c.1118A= (p.His373=) n.3254A= | dbSNP |