| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024819G>A | CA253009 | PKHD1 | c.4991C>T (p.Ser1664Phe) c.4349C>T (p.Ser1450Phe) c.4280C>T (p.Ser1427Phe) c.4916C>T (p.Ser1639Phe) c.4727C>T (p.Ser1576Phe) c.3131C>T (p.Ser1044Phe) n.5267C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.52024819G= | CA1628646718 | PKHD1 | c.4991C= (p.Ser1664=) c.4349C= (p.Ser1450=) c.4280C= (p.Ser1427=) c.4916C= (p.Ser1639=) c.4727C= (p.Ser1576=) c.3131C= (p.Ser1044=) n.5267C= | dbSNP |