| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| PEX16 | 603360 | PEROXISOME BIOGENESIS DISORDER 8B | PEX16, TYR331CYS | rs397514472 | 11 | 45910273 | T | C | ClinVar_20131230;TSA=SNV;CLIN_pathogenic;AA=T |
| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| PEX16 | 603360 | PEROXISOME BIOGENESIS DISORDER 8B | PEX16, TYR331CYS | rs397514472 | 11 | 45910273 | T | C | ClinVar_20131230;TSA=SNV;CLIN_pathogenic;AA=T |