| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.88074822C>T | CA3004284 | PKD2 | c.2533C>T (p.Arg845Ter) c.787C>T (p.Arg263Ter) n.785C>T n.1011C>T c.2308C>T (p.Arg770Ter) c.1813C>T (p.Arg605Ter) c.1693C>T (p.Arg565Ter) n.2499C>T n.2511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.88074822C= | CA1474592323 | PKD2 | c.2533C= (p.Arg845=) c.787C= (p.Arg263=) n.785C= n.1011C= c.2308C= (p.Arg770=) c.1813C= (p.Arg605=) c.1693C= (p.Arg565=) n.2499C= n.2511C= | dbSNP |