| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52024589C>T | CA234572 | PKHD1 | c.5221G>A (p.Val1741Met) c.4579G>A (p.Val1527Met) c.4510G>A (p.Val1504Met) c.5146G>A (p.Val1716Met) c.4957G>A (p.Val1653Met) c.3361G>A (p.Val1121Met) n.5497G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52024589C= | CA1628645990 | PKHD1 | c.5221G= (p.Val1741=) c.4579G= (p.Val1527=) c.4510G= (p.Val1504=) c.5146G= (p.Val1716=) c.4957G= (p.Val1653=) c.3361G= (p.Val1121=) n.5497G= | dbSNP |