| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51909466G>T | CA3852238 | PKHD1 | c.6499C>A (p.Gln2167Lys) c.5857C>A (p.Gln1953Lys) c.5788C>A (p.Gln1930Lys) c.574C>A (p.Gln192Lys) c.6424C>A (p.Gln2142Lys) c.6235C>A (p.Gln2079Lys) c.4639C>A (p.Gln1547Lys) n.6775C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51909466G>A | CA234569 | PKHD1 | c.6499C>T (p.Gln2167Ter) c.5857C>T (p.Gln1953Ter) c.5788C>T (p.Gln1930Ter) c.574C>T (p.Gln192Ter) c.6424C>T (p.Gln2142Ter) c.6235C>T (p.Gln2079Ter) c.4639C>T (p.Gln1547Ter) n.6775C>T | ClinVar dbSNP gnomAD v4 |