| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52071016G>A | CA3853834 | PKHD1 | c.657C>T (p.Gly219=) c.-68C>T (n.-68C>T) n.402G>A c.582C>T (p.Gly194=) n.933C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52071016G= | CA1628629301 | PKHD1 | c.657C= (p.Gly219=) c.-68C= (n.-68C=) n.402G= c.582C= (p.Gly194=) n.933C= | dbSNP |