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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| XPA | 278700 | 278700 | 9q22.3-q31 | 5BP DEL | 0003 | XERODERMA PIGMENTOSUM, TYPE A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | A>G change in intron 3 | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | ARG228TER | 0004 | XERODERMA PIGMENTOSUM, TYPE A | 1 |
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