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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 |
| COL5A1 | 120215 | 130000 | 9q34.2-q34.3 | 2160insC | | EHLERS-DANLOS SYNDROME, TYPE I | 1 |
| COL5A1 | 120215 | 130000 | 9q34.2-q34.3 | c.3023C>T (p.THR1008MET) | | EHLERS-DANLOS SYNDROME, CLASSIC TYPE | 1 |
| COL5A1 | 120215 | 130010 | 9q34.2-q34.3 | SER530GLY | | EHERLS-DANLOS SYNDROME, TYPE II | 2 |
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