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Gene Mutations
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| Records Return:
(9)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PCCA | 232000 | 606054 | 13q32 | 1593_1595delATT | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | 4-BP DEL, 1824IVS+3 | 0001 | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | 418delC | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | ARG243CYS | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | DEL EX13-20 | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | G216fs | | PROPIONIC ACIDEMIA | 3 |
| PCCA | 232000 | 606054 | 13q32 | GLU233LYS | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | GLY452VAL | | PROPIONIC ACIDEMIA | 1 |
| PCCA | 232000 | 606054 | 13q32 | LYS298ARG | | PROPIONIC ACIDEMIA | 1 |
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