| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51632706G>A | CA273916 | PKHD1 | c.11524C>T (p.Arg3842Ter) c.11395C>T (p.Arg3799Ter) c.11386C>T (p.Arg3796Ter) c.10882C>T (p.Arg3628Ter) c.10813C>T (p.Arg3605Ter) c.5599C>T (p.Arg1867Ter) c.11449C>T (p.Arg3817Ter) c.11329C>T (p.Arg3777Ter) c.11260C>T (p.Arg3754Ter) c.9664C>T (p.Arg3222Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.51632706G= | CA1628476794 | PKHD1 | c.11524C= (p.Arg3842=) c.11395C= (p.Arg3799=) c.11386C= (p.Arg3796=) c.10882C= (p.Arg3628=) c.10813C= (p.Arg3605=) c.5599C= (p.Arg1867=) c.11449C= (p.Arg3817=) c.11329C= (p.Arg3777=) c.11260C= (p.Arg3754=) c.9664C= (p.Arg3222=) | dbSNP |