| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51883179A>G | CA3851987 | PKHD1 | c.7264T>C (p.Cys2422Arg) c.6622T>C (p.Cys2208Arg) c.6553T>C (p.Cys2185Arg) c.1339T>C (p.Cys447Arg) c.7189T>C (p.Cys2397Arg) c.7000T>C (p.Cys2334Arg) c.5404T>C (p.Cys1802Arg) n.7540T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51883179A>C | CA3851986 | PKHD1 | c.7264T>G (p.Cys2422Gly) c.6622T>G (p.Cys2208Gly) c.6553T>G (p.Cys2185Gly) c.1339T>G (p.Cys447Gly) c.7189T>G (p.Cys2397Gly) c.7000T>G (p.Cys2334Gly) c.5404T>G (p.Cys1802Gly) n.7540T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51883179A= | CA1628593598 | PKHD1 | c.7264T= (p.Cys2422=) c.6622T= (p.Cys2208=) c.6553T= (p.Cys2185=) c.1339T= (p.Cys447=) c.7189T= (p.Cys2397=) c.7000T= (p.Cys2334=) c.5404T= (p.Cys1802=) n.7540T= | dbSNP |