| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52083223C>A | CA224105 | PKHD1 | c.85G>T (p.Glu29Ter) n.361G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52083223C>T | CA364440972 | PKHD1 | c.85G>A (p.Glu29Lys) n.361G>A | dbSNP gnomAD v4 |
| 6 | g.52083223C= | CA1628652893 | PKHD1 | c.85G= (p.Glu29=) n.361G= | dbSNP |