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Gene Mutations
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| Records Return:
(10)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| HMBS | 609806 | 176000 | 11q23.3 | 578T>A | | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | 582_586delGCGCA | | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | ALA11ALA | | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | ARG116TRP | 0004 | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | ARG167TRP | 0013 | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | ARG195CYS | | PORPHYRIA, ACUTE INTERMITTENT | 2 |
| HMBS | 609806 | 176000 | 11q23.3 | ARG26CYS | | PORPHYRIA, ACUITE INTERMITTENT | 1 |
| HMBS | 609806 | 176000 | 11q23.3 | IVS1DS, G-A, +1 | 0001 | PORPHYRIA, ACUTE INTERMITTENT | 1 |
| HMBS | 609806 | 176100 | 11q23.3 | THR35MET | | PORPHYRIA, ACUTE INTERMITTENT | 5 |
| HMBS | 609806 | 176000 | 11q23.3 | VAL93PHE | | PORPHYRIA, ACUTE INTERMITTENT | 1 |
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