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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 |
| ALPL | 171760 | 241510 | 1p36.1-p34 | ARG54CYS | 0002 | HYPOPHOSPHATASIA, INFANTILE | 2 |
| ALPL | 171760 | 241510 | 1p36.1-p34 | ARG54PRO | 0004 | HYPOPHOSPHATASIA, INFANTILE | 1 |
| ALPL | 171760 | 241510 | 1p36.1-p34 | ASP277ALA | 0003 | HYPOPHOSPHATASIA, INFANTILE | 2 |
| ALPL | 171760 | 241510 | 1p36.1-p34 | GLN190PRO | 0005 | HYPOPHOSPHATASIA, INFANTILE | 1 |
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