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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 |
| HADHB | 143450 | 609015 | 2p23 | ARG247HIS | 0003 | TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 2 | 1 |
| HADHB | 143450 | 609015 | 2p23 | ARG28HIS | | TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 2 | 1 |
| HADHB | 143450 | 609015 | 2p23 | ARG61HIS | 0002 | TRIFUNCTIONAL PROTEIN DEFICIENCY, TYPE 2 | 1 |
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