| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52046144G>A | CA224059 | PKHD1 | c.2452C>T (p.Gln818Ter) c.1741C>T (p.Gln581Ter) c.2377C>T (p.Gln793Ter) c.592C>T (p.Gln198Ter) n.2728C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.52046144G= | CA1628631412 | PKHD1 | c.2452C= (p.Gln818=) c.1741C= (p.Gln581=) c.2377C= (p.Gln793=) c.592C= (p.Gln198=) n.2728C= | dbSNP |