| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52026025G>A | CA149508 | PKHD1 | c.3785C>T (p.Ala1262Val) c.3074C>T (p.Ala1025Val) c.3710C>T (p.Ala1237Val) c.3521C>T (p.Ala1174Val) c.1925C>T (p.Ala642Val) n.4061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52026025G= | CA1628596255 | PKHD1 | c.3785C= (p.Ala1262=) c.3074C= (p.Ala1025=) c.3710C= (p.Ala1237=) c.3521C= (p.Ala1174=) c.1925C= (p.Ala642=) n.4061C= | dbSNP |