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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 |
| ASS1 | 603470 | 215700 | 9q34 | 467G>A (Gly156Asp) | | CITRULLINEMIA | 1 |
| ASS1 | 603470 | 215700 | 9q34 | ARG304TRP | 10 | CITRULLINEMIA | 1 |
| ASS1 | 603470 | 215700 | 9q34 | c.805G>A | | CITRULLINEMIA | 1 |
| ASS1 | 603470 | 215700 | 9q34 | c.814C>T | | CITRULLINEMIA | 1 |
| ASS1 | 603470 | 215700 | 9q34 | GLY390ARG | 0009 | CITRULLINEMIA | 1 |
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