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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CPN1 | 603103 | 212070 | 10q24.2 | 1-BP INS, 385G | 0001 | CARBOXYPEPTIDASE N DEFICIENCY | 1 |
| CPN1 | 603103 | 212070 | 10q24.2 | GLY178ASP | 0002 | CARBOXYPEPTIDASE N DEFICIENCY | 1 |
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