| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52017497T>C | CA3852499 | PKHD1 | c.5513A>G (p.Tyr1838Cys) c.4871A>G (p.Tyr1624Cys) c.4802A>G (p.Tyr1601Cys) c.5438A>G (p.Tyr1813Cys) c.5249A>G (p.Tyr1750Cys) c.3653A>G (p.Tyr1218Cys) n.5789A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52017497T= | CA1628638761 | PKHD1 | c.5513A= (p.Tyr1838=) c.4871A= (p.Tyr1624=) c.4802A= (p.Tyr1601=) c.5438A= (p.Tyr1813=) c.5249A= (p.Tyr1750=) c.3653A= (p.Tyr1218=) n.5789A= | dbSNP |