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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ALG12 | 607144 | 607143 | 22q13.33 | 29delG | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | 1 |
| ALG12 | 607144 | 607143 | 22q13.33 | ARG311CYS | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | 1 |
| ALG12 | 607144 | 607143 | 22q13.33 | SER275ASN | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | 1 |
| ALG12 | 607144 | 607143 | 22q13.33 | TYR230ASP | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | 1 |
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