| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| IGFALS | 601489 | ACID-LABILE SUBUNIT DEFICIENCY | IGFALS, CYS540ARG | rs121909247 | 16 | 1790800 | A | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |
| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| IGFALS | 601489 | ACID-LABILE SUBUNIT DEFICIENCY | IGFALS, CYS540ARG | rs121909247 | 16 | 1790800 | A | G | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A |