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Gene Mutations
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| Records Return:
(5)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| FGFR3 | 134934 | 134934 | 4p16.3 | ARG248CYS | 0005 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | 9 |
| FGFR3 | 134934 | 146000 | 4p16.3 | ASN540LYS, 1620C>A | 0010 | HYPOCHONDROPLASIA | 1 |
| FGFR3 | 134934 | 100800 | 4p16.3 | GLY380ARG, 1138G>A | 0001 | ACHONDROPLASIA; ACH | 5 |
| FGFR3 | 134934 | 134934 | 4p16.3 | SER249CYS | 0013 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | 1 |
| FGFR3 | 134934 | 134934 | 4p16.3 | SER371CYS | 0006 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | 1 |
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