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. 2020 Aug 28;34:108. doi: 10.34171/mjiri.34.108

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