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Gene Mutations
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(1)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SLC25A4 | 103220 | 615418 | 4q35.1 | c.523delC; p.Q175RfsX38 | | MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 | 1 |
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