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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| APRT | 102600 | 614723 | 16q24 | LEU110PRO | 0007 | APRT DEFICIENCY | 2 |
| APRT | 102600 | 614723 | 16q24 | MET136THR | 0003 | APRT DEFICIENCY, JAPANESE TYPE | 6 |
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