Research Article
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate
Table 2
Novel mutations detected by semiconductor sequencing and confirmed by Sanger sequencing.
| | Case no. | Position | Gene | Type | Zygosity | Nucleotide substitution | Consequence | Novelty | Sanger sequencing validation | SIFT score | PolyPhen result | PhyloP score | GERP++ score |
| | 1 | 38279353 | FGFR1 | SNV | Het | C/T | Nonsynonymous | Novel | TURE | 0 | D | 2.542 | 5.4 | | 2 | 919955 | KISS1R | SNV | Het | C/A | Nonsynonymous | Previously reported | TURE | 0 | D | 2.099 | 4.6 | | 3 | 38283760 | FGFR1 | SNV | Het | G/A | Nonsynonymous | Novel | TURE | 0 | D | 2.737 | 5.78 |
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