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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 |
| COL6A3 | 120250 | 158810 | 2q37 | ASP563GLY | | BETHLEM MYOPATHY | 3 |
| COL6A3 | 120250 | 254090 | 2q37 | c.1874G>C (P.Arg625Thr) | | ULLRICH CONGENITAL MUSCULAR DYSTROPHY | 1 |
| COL6A3 | 120250 | 158810 | 2q37 | c.5590G>A (p.A1864T) | | BETHLEM MYOPATHY 1; BTHLM1 | 1 |
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