| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42965262G>A | CA138222058 | PEX6 | c.2578C>T (p.Arg860Trp) c.2331C>T (n.2331C>T) c.2314C>T (p.Arg772Trp) n.2424C>T c.2494C>T (p.Arg832Trp) n.3540C>T n.2362C>T | ClinVar dbSNP |
| 6 | g.42965262G= | CA1624307904 | PEX6 | c.2578C= (p.Arg860=) c.2331C= (n.2331C=) c.2314C= (p.Arg772=) n.2424C= c.2494C= (p.Arg832=) n.3540C= n.2362C= | dbSNP |