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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 |
| 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 |
| TTN | 188840 | 160150 | 2q31.2 | c.106244delG (p.G32772fs) | | MYOPATHY, CENTRONUCLEAR | 1 |
| TTN | 188840 | 160150 | 2q31.2 | c.15721+1G>A | | MYOPATHY, CENTRONUCLEAR | 2 |
| TTN | 188840 | 160150 | 2q31.2 | c.35794C>A | | MYOPATHY, CENTRONUCLEAR, 1 | 1 |
| TTN | 188840 | 160150 | 2q31.2 | c.44998_45001del (p.N22897fs) | | MYOPATHY, CENTRONUCLEAR | 1 |
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