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 |
TTN | 188840 | 160150 | 2q31.2 | | | | 1 |
TTN | 188840 | 160150 | 2q31.2 | 32854 G>C | | CENTRONUCLEAR MYOPATHY 1 | 3 |
TTN | 188840 | 160150 | 2q31.2 | 37112-1G>A (IVS191-1G>A) | | CENTRONUCLEAR MYOPATHY 1 | 5 |
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