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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 |
| PLOD1 | 153454 | 225400 | 1p36.3-p36.2 | 3-BP DEL, GLU532DEL | 0004 | EHLERS-DANOLS SYNDROME TYPE VIA | 2 |
| PLOD1 | 153454 | 225400 | 1p36.3-p36.2 | c476delG (p.Gly159ValfsTer68) | | EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1 | 1 |
| PLOD1 | 153454 | 225400 | 1p36.3-p36.2 | GLY678ARG | 0003 | EHLERS-DANOLS SYNDROME TYPE VIA | 2 |
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