| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| PEX1 | 602136 | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B, INCLUDED | PEX1, LEU664PRO | rs121434455 | 7 | 92504812 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;E_Cited;CLIN_pathogenic;AA=A |
