| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52026063A>C | CA3852850 | PKHD1 | c.3747T>G (p.Cys1249Trp) c.3036T>G (p.Cys1012Trp) c.3672T>G (p.Cys1224Trp) c.3483T>G (p.Cys1161Trp) c.1887T>G (p.Cys629Trp) n.4023T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52026063A= | CA1628596498 | PKHD1 | c.3747T= (p.Cys1249=) c.3036T= (p.Cys1012=) c.3672T= (p.Cys1224=) c.3483T= (p.Cys1161=) c.1887T= (p.Cys629=) n.4023T= | dbSNP |