| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136898192A>G | CA343128 | PEX7 | c.854A>G (p.His285Arg) c.*119A>G (n.*119A>G) c.542A>G c.740A>G (p.His247Arg) c.734A>G (p.His245Arg) c.560A>G (p.His187Arg) c.577A>G (p.Ile193Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898192A= | CA3134713008 | PEX7 | c.854A= (p.His285=) c.*119A= (n.*119A=) c.542A= c.740A= (p.His247=) c.734A= (p.His245=) c.560A= (p.His187=) c.577A= (p.Ile193=) | dbSNP |