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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| IKBKAP | 603722 | 223900 | 9q31 | c.2204+6T>C (IVS20+6T-C) | 0001 | FAMILIAL DYSAUTONOMIA | 1 |
| IKBKAP | 603722 | 223900 | 9q31 | c.2204+6T>C (IVS20+6T>C) | 0001 | FAMILIAL DYSAUTONOMIA | 42 |
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