| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52058377G>T | CA274453 | PKHD1 | c.1458C>A (p.Tyr486Ter) c.747C>A (p.Tyr249Ter) c.1383C>A (p.Tyr461Ter) n.1734C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52058377G= | CA1628603237 | PKHD1 | c.1458C= (p.Tyr486=) c.747C= (p.Tyr249=) c.1383C= (p.Tyr461=) n.1734C= | dbSNP |