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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 |
| TSC1 | 605284 | 191100 | 9q34 | c.2692C>T (p.Q898X) | | TUBEROUS SCLEROSIS 1; TSC1 | 1 |
| TSC1 | 605284 | 191100 | 9q34 | c.994_995insA | | TUBEROUS SCLEROSIS, TYPE I | 7 |
| TSC1 | 605284 | 191100 | 9q34 | TRP750TER | | TUBEROUS SCLEROSIS, TYPE I | 3 |
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