| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51648115G>A | CA16041022 | PKHD1 | c.11314C>T (p.Arg3772Ter) c.11185C>T (p.Arg3729Ter) c.11176C>T (p.Arg3726Ter) c.10672C>T (p.Arg3558Ter) c.10603C>T (p.Arg3535Ter) c.5389C>T (p.Arg1797Ter) c.11239C>T (p.Arg3747Ter) c.11119C>T (p.Arg3707Ter) c.11050C>T (p.Arg3684Ter) c.9454C>T (p.Arg3152Ter) n.11604C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51648115G>T | CA450412153 | PKHD1 | c.11314C>A (p.Arg3772=) c.11185C>A (p.Arg3729=) c.11176C>A (p.Arg3726=) c.10672C>A (p.Arg3558=) c.10603C>A (p.Arg3535=) c.5389C>A (p.Arg1797=) c.11239C>A (p.Arg3747=) c.11119C>A (p.Arg3707=) c.11050C>A (p.Arg3684=) c.9454C>A (p.Arg3152=) n.11604C>A | ClinVar dbSNP gnomAD v4 |