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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 |
| COL1A2 | 120160 | 166210 | 7q21.3 | EX28DEL | 0018 | OSTEOGENESIS IMPERFECTA, TYPE II | 1 |
| COL1A2 | 120160 | 166220 | 7q21.3 | GLY610CYS | | OSTEOGENESIS IMPERFECTA, TYPE IV | 51 |
| COL1A2 | 120160 | 166210 | 7q21.3 | GLY907ASP | 0008 | OSTEOGENESIS IMPERFECTA, TYPE II | 1 |
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