Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
ASL | 608310 | 207900 | 7cen-q11.2 | 839delG | | ARGININOSUCCINIC ACIDURIA | 2 |
ASL | 608310 | 207900 | 7cen-q11.2 | ARG12GLN | | ARGININOSUCCINIC ACIDURIA | 2 |
ASL | 608310 | 207900 | 7cen-q11.2 | ARG193GLN | | ARGININOSUCCINIC ACIDURIA | 2 |
ASL | 608310 | 207900 | 7cen-q11.2 | MET256THR | | ARGININOSUCCINIC ACIDURIA | 1 |
ASL | 608310 | 207900 | 7cen-q11.2 | VAL178MET | 0005 | ARGININOSUCCINIC ACIDURIA | 3 |