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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| BCKDHA | 608348 | 248600 | 19q13.1-q13.2 | 8-BP DEL, NT887-894, FS255TER | 0002 | MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A | 2 |
| BCKDHA | 608348 | 248600 | 19q13.1-q13.2 | Arg399Gln | | Maple syrup urine disease, type IA | 1 |
| BCKDHA | 608348 | 248600 | 19q13.1-q13.2 | TYR394ASN | 0001 | MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A | 1 |
| BCKDHA | 608348 | 248600 | 19q13.1-q13.2 | TYR438ASN (FORMERLY TYR393ASN) | | MAPLE SYRUP URINE DISEASE, CLASSIC TYPE IA, DUE TO DEFICIENCY OF E1A | 3 |
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