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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CFTR | 602421 | 219700 | 7q31.2 | 1-BP DEL, T1078 | 0059 | CYSTIC FIBROSIS | 1 |
| CFTR | 602421 | 219700 | 7q31.2 | 1898+1 G>A | | CYSTIC FIBROSIS | 4 |
| CFTR | 602421 | 219700 | 7q31.2 | 2184delA | | CYSTIC FIBROSIS | 1 |
| CFTR | 602421 | 219700 | 7q31.2 | 394delTT | 0128 | CYSTIC FIBROSIS | 1 |
| CFTR | 602421 | 219700 | 7q31.2 | ILE148THR | | CYSTIC FIBROSIS | 2 |
| CFTR | 602421 | 219700 | 7q31.2 | SER1235ARG | | CYSTIC FIBROSIS | 1 |
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