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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| FKRP | 606596 | 607155 | 19q13.3 | 826C>A | | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | 2 |
| FKRP | 606596 | 607155 | 19q13.3 | c.826C>A | 0004 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | 2 |
| FKRP | 606596 | 607155 | 19q13.3 | c.872delA | | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | 1 |
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