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Gene Mutations
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| Records Return:
(23)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| BRCA1 | 113705 | 604370 | 17q21.31 | 1-BP INS, 5382C | 0018 | BREAST-OVARIAN CANCER | 2 |
| BRCA1 | 113705 | 604370 | 17q21.31 | 1-BP INS, 5438C | 0021 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 1323delG | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 2-BP DEL, 185AG | 0003 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 2187delA | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 2274insA | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 604370 | 17q21.31 | 3600del11 | 0025 | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 604370 | 17q21.31 | 4-BP DEL, FS1252TER | 0014 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 604370 | 17q21.31 | 4-BP DEL, FS1364TER | 0015 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 604370 | 17q21.31 | 40-BP DEL, FS397TER | 0006 | BREAST-OVARIAN CANCER | 2 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 5256delG | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 5677insA | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | 916delTT | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | ARG1443GLY | 0017 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | ARG1443TER | 0016 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | CYS61GLY | 0002 | OVARIAN CANCER, SPORADIC | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | GLU1250TER | 0013 | BREAST-OVARIAN CANCER | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | IVS2-2delA | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | IVS5-11T>G | | BREAST CANCER, TYPE 1 | 1 |
| BRCA1 | 113705 | 113705 | 17q21.31 | IVS8+2T>A | | BREAST CANCER, TYPE 1 | 1 |
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