| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52069470G>T | CA364431790 | PKHD1 | c.765C>A (p.Tyr255Ter) c.54C>A (p.Tyr18Ter) n.389+274G>T c.690C>A (p.Tyr230Ter) n.1041C>A | dbSNP gnomAD v4 |
| 6 | g.52069470G>C | CA274961 | PKHD1 | c.765C>G (p.Tyr255Ter) c.54C>G (p.Tyr18Ter) n.389+274G>C c.690C>G (p.Tyr230Ter) n.1041C>G | ClinVar dbSNP |
| 6 | g.52069470G= | CA1628626499 | PKHD1 | c.765C= (p.Tyr255=) c.54C= (p.Tyr18=) n.389+274G= c.690C= (p.Tyr230=) n.1041C= | dbSNP |