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Gene Mutations
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| Records Return:
(8)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PCCB | 232050 | 606054 | 3q21-q22 | 1172_1173delTT | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | 12-BP INS, 14-BP DEL, NT1218 | 0003 | PROPIONIC ACIDEMIA | 3 |
| PCCB | 232050 | 606054 | 3q21-q22 | 1204delG | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | 1209+2delT | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | ARG113TER | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | ASN536ASP | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | GLY112ASP | | PROPIONIC ACIDEMIA | 1 |
| PCCB | 232050 | 606054 | 3q21-q22 | PHE391SER | | PROPIONIC ACIDEMIA | 1 |
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