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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CAPN3 | 114240 | 253600 | 15q15.1-q21.1 | 598_612del | | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A | 1 |
| CAPN3 | 114240 | 253600 | 15q15.1-q21.1 | ARG490GLN | 0010 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A | 1 |
| CAPN3 | 114240 | 253600 | 15q15.1-q21.1 | ILE113THR | | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A | 1 |
| CAPN3 | 114240 | 253600 | 15q15.1-q21.1 | THR184ARGfs*36 | | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A | 1 |
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