| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025077del | CA234573 | PKHD1 | c.4733del (p.Tyr1578PhefsTer14) c.4102-11del (n.4102-11del) c.4022del (p.Tyr1341PhefsTer14) c.4658del (p.Tyr1553PhefsTer14) c.4469del (p.Tyr1490PhefsTer14) c.2873del (p.Tyr958PhefsTer14) n.5009del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52025077T= | CA3134979521 | PKHD1 | c.4733A= (p.Tyr1578=) c.4102-11A= (n.4102-11A=) c.4022A= (p.Tyr1341=) c.4658A= (p.Tyr1553=) c.4469A= (p.Tyr1490=) c.2873A= (p.Tyr958=) n.5009A= | dbSNP |