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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 |
| GLA | 300644 | 301500 | Xq22 | 1187delAAG | | FABRY DISEASE | 1 |
| GLA | 300644 | 301500 | Xq22 | ARG220TER | | FABRY DISEASE | 3 |
| GLA | 300644 | 301500 | Xq22 | ARG301GLY | | FABRY DISEASE, CARDIAC TYPE | 1 |
| GLA | 300644 | 301500 | Xq22 | ASN215SER | 0018 | FABRY DISEASE | 1 |
| GLA | 300644 | 301500 | Xq22 | TRP162TER | | FABRY DISEASE | 1 |
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