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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 |
| LARGE | 603590 | 613154 | 22q12.3-q13.1 | DEL LARGE | | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A,6 | 1 |
| LARGE | 603590 | 613154 | 22q12.3-q13.1 | GLU509LYS | 0001 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A, 6 | 1 |
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