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Gene Mutations
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| Records Return:
(5)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ASPA | 608034 | 271900 | 17pter-p13 | ALA305GLU | 0003 | CANAVAN DISEASE | 3 |
| ASPA | 608034 | 271900 | 17pter-p13 | GLU285ALA | 0001 | CANAVAN DISEASE | 2 |
| ASPA | 608034 | 271900 | 17pter-p13 | GLY176ASP | | CANAVAN DISEASE | 3 |
| ASPA | 608034 | 271900 | 17pter-p13 | TYR231TER | 0005 | CANAVAN DISEASE | 3 |
| ASPA | 608034 | 271900 | 17pter-p13 | TYR231TYR | | CANAVAN DISEASE SILENT POLYMORPHISM | 3 |
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