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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| DMD | 300377 | 310200 | Xp21.2 | 5'END-EX19DEL | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | 7893delC | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | ARG2905TER | 0082 | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX1-18DEL (DEL 5 PRIME END-18) | | DUCHENNE MUSCULAR DYSTROPHY | 2 |
| DMD | 300377 | 310200 | Xp21.2 | EX17DUP | | MUSCULAR DYSTROPHY, DUCHENNE TYPE | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX18-41DEL | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX2-30DUP | | DUCHENNE MUSCULAR DYSTROPHY | 2 |
| DMD | 300377 | 310200 | Xp21.2 | EX2-4DUP | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX27-28DUP | | BECKER MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX3-17DEL | | DUCHENNE MUSCULAR DYSTROPHY | 4 |
| DMD | 300377 | 310200 | Xp21.2 | EX3-5DEL | | DUCHENNE MUSCULAR DYSTROPHY | 2 |
| DMD | 300377 | 310200 | Xp21.2 | EX31-43DEL | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX35-43DEL | | DUCHENNE MUSCULAR DYSTROPHY | 3 |
| DMD | 300377 | 310200 | Xp21.2 | EX4-43DEL | | DUCHENNE MUSCULAR DYSTROPHY | 2 |
| DMD | 300377 | 310200 | Xp21.2 | EX44DEL | | DUCHENNE MUSCULAR DYSTROPHY | 1 |
| DMD | 300377 | 310200 | Xp21.2 | EX45-50DEL | | DUCHENNE MUSCULAR DYSTROPHY | 3 |
| DMD | 300377 | 310200 | Xp21.2 | EX45-53DEL | | DUCHENNE MUSCULAR DYSTROPHY | 2 |
| DMD | 300377 | 310200 | Xp21.2 | EX45-62DUP | | DUCHENNE MUSCULAR DYSTROPHY | 3 |
| DMD | 300377 | 310200 | Xp21.2 | EX45DEL | | DUCHENNE MUSCULAR DYSTROPHY | 6 |
| DMD | 300377 | 310200 | Xp21.2 | EX46-50DEL | | DUCHENNE MUSCULAR DYSTROPHY | 4 |