Skip to main content
. 2018 Feb 21;11:919–932. doi: 10.2147/OTT.S156998

Table 2.

The screened SNV panel of published data

CHR Gene SIFT PPH2 Condel Label Mutation Reference
8 TNFRSF11B 0.005 0.540673 D M346T Pemov et al9
14 OTX2 0.12 0.001 0.542721 D A119V Pemov et al9
8 FGFR1 0.06 0.084 0.535774 D P681S Pemov et al9
17 BRCA1 0.01 0.653951 D Y560H Pemov et al9
14 WDHD1 0.21 0.544 0.496841 N E620V Pemov et al9
17 DNAH17 0.01 0.3 0.579439 D A3254V Pemov et al9
3 TGM4 0 0.997 0.54129 D R431W Pemov et al9
17 RNF43 0.01 0.998 0.378167 N R529W Pemov et al9
8 UNC5D 0 0.570825 D D360V Pemov et al9
2 GREB1 0.01 1 0.557216 D T1452M Pemov et al9
2 SOS1 0.04 0.981 0.598183 D S548R Santoro et al10
3 MLH1 0.01 0.983 0.599352 D R687W Gallinger et al11

Abbreviations: PPH2, PolyPhen-2; SIFT, Sorting Intolerant from Tolerant; SNV, single nucleotide variant; CHR, choromosome; D, deleterious; N, neutral.