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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| PEX26 | 608666 | 266510 | 22q11.21 | 1-BP INS, 255T | 0007 | REFSUM DISEASE, INFANTILE FORM | 1 |
| PEX26 | 608666 | 214100 | 22q11.21 | 1-BP INS, 35C | 0003 | ZELLWEGER SYNDROME | 1 |
| PEX26 | 608666 | 202370 | 22q11.21 | ARG98TRP | 0001 | NEONATAL ADRENOLEUKODYSTROPHY (REFSUM DISEASE, INFANTILE FORM INCLUDED) | 2 |
| PEX26 | 608666 | 214100 | 22q11.21 | IVS2+1,G>T | 0008 | ZELLWEGER SYNDROME | 1 |
| PEX26 | 608666 | 266510 | 22q11.21 | LEU45PRO | 0006 | REFSUM DISEASE, INFANTILE FORM | 1 |
| PEX26 | 608666 | 266510 | 22q11.21 | MET1THR | 0005 | REFSUM DISEASE, INFANTILE FORM | 1 |
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