| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51748297G>A | CA274366 | PKHD1 | c.9319C>T (p.Arg3107Ter) c.9190C>T (p.Arg3064Ter) c.9181C>T (p.Arg3061Ter) c.8677C>T (p.Arg2893Ter) c.8608C>T (p.Arg2870Ter) c.3394C>T (p.Arg1132Ter) c.9244C>T (p.Arg3082Ter) c.9124C>T (p.Arg3042Ter) c.9055C>T (p.Arg3019Ter) c.7459C>T (p.Arg2487Ter) n.9595C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.51748297G= | CA1628503007 | PKHD1 | c.9319C= (p.Arg3107=) c.9190C= (p.Arg3064=) c.9181C= (p.Arg3061=) c.8677C= (p.Arg2893=) c.8608C= (p.Arg2870=) c.3394C= (p.Arg1132=) c.9244C= (p.Arg3082=) c.9124C= (p.Arg3042=) c.9055C= (p.Arg3019=) c.7459C= (p.Arg2487=) n.9595C= | dbSNP |
| 6 | g.51748297G>T | CA450613851 | PKHD1 | c.9319C>A (p.Arg3107=) c.9190C>A (p.Arg3064=) c.9181C>A (p.Arg3061=) c.8677C>A (p.Arg2893=) c.8608C>A (p.Arg2870=) c.3394C>A (p.Arg1132=) c.9244C>A (p.Arg3082=) c.9124C>A (p.Arg3042=) c.9055C>A (p.Arg3019=) c.7459C>A (p.Arg2487=) n.9595C>A | ClinVar dbSNP |