| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51791269A>G | CA224100 | PKHD1 | c.8407T>C (p.Cys2803Arg) c.8278T>C (p.Cys2760Arg) c.8303-15348T>C (n.8303-15348T>C) c.7765T>C (p.Cys2589Arg) c.7696T>C (p.Cys2566Arg) c.2482T>C (p.Cys828Arg) c.8332T>C (p.Cys2778Arg) c.8212T>C (p.Cys2738Arg) c.8143T>C (p.Cys2715Arg) c.6547T>C (p.Cys2183Arg) n.8683T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51791269A= | CA1628529780 | PKHD1 | c.8407T= (p.Cys2803=) c.8278T= (p.Cys2760=) c.8303-15348T= (n.8303-15348T=) c.7765T= (p.Cys2589=) c.7696T= (p.Cys2566=) c.2482T= (p.Cys828=) c.8332T= (p.Cys2778=) c.8212T= (p.Cys2738=) c.8143T= (p.Cys2715=) c.6547T= (p.Cys2183=) n.8683T= | dbSNP |