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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 |
| SLC7A9 | 604144 | 600918 | 19q13.1 | 789+2T>C | | NON-TYPE 1 CYSTINURIA | 1 |
| SLC7A9 | 604144 | 600918 | 19q13.1 | THR389MET | | NON-TYPE 1 CYSTINURIA | 1 |
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