Table 3. Filtered variants after WES analysis in family F05.
| Chr | Gene | Variation | Zygosity | Depth | ExAc frequency Total | phyloP | CADD_PHRED | Grantham Score | SIFT (score) | Polyphen V2 | Mutation taster (p-value) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11 | CEP164 | c.277C > T; p.(R93W) | Hom | 34 | 1/121,408 | 4.165 | 29 | 101 | Del (0.0) | PrD (1.000) | DC (1.0) |
| 4 | BBS12 | c.2014G > A; p.(A672T) | Het | 115 | 149/119,520 | 5.869 | 34 | 58 | Del (0.0) | PrD (1.000) | DC (1.0) |
Abbreviations: CADD: Combined Annotation Dependent Depletion, Chr: Chromosome, DC: Disease causing, Del: Deleterious, ExAC: Exome aggregation consortium, Het: Heterozygous, Hom: Homozygous, PhyloP: Phylogenetic p-value, Polyphen V2: Polymorphism phenotyping version2, PrD: Probably damaging, SIFT: Sorting intolerant from tolerant.