| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51959883dup | CA234571 | PKHD1 | c.5895dup (p.Leu1966ThrfsTer4) c.5253dup (p.Leu1752ThrfsTer4) c.5184dup (p.Leu1729ThrfsTer4) c.-17-25561dup (n.-17-25561dup) c.5820dup (p.Leu1941ThrfsTer4) c.5631dup (p.Leu1878ThrfsTer4) c.4035dup (p.Leu1346ThrfsTer4) n.6171dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51959883T= | CA3134983608 | PKHD1 | c.5895A= (p.Leu1965=) c.5253A= (p.Leu1751=) c.5184A= (p.Leu1728=) c.-17-25561A= (n.-17-25561A=) c.5820A= (p.Leu1940=) c.5631A= (p.Leu1877=) c.4035A= (p.Leu1345=) n.6171A= | dbSNP dbSNP |