Table 3. Prediction of variants of exon7 in FGFR3 with different software .
HGVS Genomic Change | Driver Statement | Prediction index | Features | MamPhCons | MamPhyloP | Phred Score |
Chr4: 1803568C>A | Predicted driver: tier1 | Disease-Causing | Spl, pr affected* | 0.999 | 1.9 | 22.9 |
Chr4: 1803570C>A | Predicted passenger | Disease-Causing | Spl, pr affected* | 0.998 | 1.9 | 22.7 |
Chr4: 1803611G>T | Predicted passenger | Disease-Causing | Spl, pr affected* | 1 | 1.9 | 23.8 |
Chr4: 1803704T>C | Polymorphism | Polymorphism | - | 0.94 | -1.001 | 2.721 |
Chr4: 1803735T>C | Predicted passenger | Disease-Causing | pr affected* | 1 | 1.575 | 23.7 |
Spl: Splicing site, pr: protein