| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52043636C>T | CA274389 | PKHD1 | c.2810G>A (p.Trp937Ter) c.2099G>A (p.Trp700Ter) c.2735G>A (p.Trp912Ter) c.950G>A (p.Trp317Ter) n.3086G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.52043636C= | CA1628627295 | PKHD1 | c.2810G= (p.Trp937=) c.2099G= (p.Trp700=) c.2735G= (p.Trp912=) c.950G= (p.Trp317=) n.3086G= | dbSNP |