| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52043721G>T | CA450420365 | PKHD1 | c.2725C>A (p.Arg909=) c.2014C>A (p.Arg672=) c.2650C>A (p.Arg884=) c.865C>A (p.Arg289=) n.3001C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52043721G>A | CA234576 | PKHD1 | c.2725C>T (p.Arg909Ter) c.2014C>T (p.Arg672Ter) c.2650C>T (p.Arg884Ter) c.865C>T (p.Arg289Ter) n.3001C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.52043721G= | CA1628627548 | PKHD1 | c.2725C= (p.Arg909=) c.2014C= (p.Arg672=) c.2650C= (p.Arg884=) c.865C= (p.Arg289=) n.3001C= | dbSNP |