Appendix 4 of Tang, Mol Vis 2016; 22:917-932.
To access the data, click or select the words “Appendix 4.” Hetero: Heterozygous; NA: Not available; * The Family 4 harbored both Y211H and S345_A351del mutations, and Y211H mutation was also found in a singleton. Family ID Location Allele status cDNA Change Protein Change Type Probands With FEVR (n=100) Control Subjects (n=150) SIFT PolyPhen2 Align GVGD Source 4,35 Eon2 Hetero 631T>C Y211H* Missense 1/100 0/150 0,D Benign Class C65 . 34 Exon2 Hetero 1310T>C I437T Missense 1/100 0/150 0,D Probably damaging Class C65 Novel For SIFT, amino acids changes with probabilities <0.05 are predicted to be deleterious. (D: Deleterious. T: Tolerated); For Align GVGD, class C0 indicates that a change is unlikely to be pathogenic, while class C65 represents the highest likelihood of a change to be pathogenic.