| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52058349G>A | CA253014 | PKHD1 | c.1486C>T (p.Arg496Ter) c.775C>T (p.Arg259Ter) c.1411C>T (p.Arg471Ter) n.1762C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52058349G>C | CA3853549 | PKHD1 | c.1486C>G (p.Arg496Gly) c.775C>G (p.Arg259Gly) c.1411C>G (p.Arg471Gly) n.1762C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |