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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 |
| ACADM | 607008 | 201450 | 1p31 | ALA56PRO | | MCAD DEFICIENCY | 1 |
| ACADM | 607008 | 201450 | 1p31 | CYS116TYR | | MCAD DEFICIENCY | 1 |
| ACADM | 607008 | 201450 | 1p31 | LYS304GLU | 0001 | MCAD DEFICIENCY | 14 |
| ACADM | 607008 | 201450 | 1p31 | LYS329GLU (K329E) | | MCAD DEFICIENCY | 1 |
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