Table 3. List of selected variants after filtering of WES data.
| Gene | Full Gene Name | DNA change | Hg19 Chromosome location | Protein change | Exonic Func | dbSNP137 | MAF from ExAC Browser |
|---|---|---|---|---|---|---|---|
| GIGYF2 | GRB10 Interacting GYF Protein 2 | 3594_3595insCAG | chr2:233712209 | R1198delinsRQ | nonframeshift insertion | ||
| T3608C | chr2:233712223 | L1203P | nonsynonymous SNV | ||||
| A3620C | chr2:233712235 | Q1207P | nonsynonymous SNV | rs200557434 | NA | ||
| CCDC179 | Coiled-Coil Domain Containing 179 | G37A | chr11:22881931 | V13I | nonsynonymous SNV | rs145779712 | 0.001514 |
| PPFIBP2 | PTPRF Interacting Protein, Binding Protein 2 (Liprin Beta 2) | G1258A | chr11:7669658 | V420M | nonsynonymous SNV | ||
| ANKRD33 | Ankyrin Repeat Domain 33 | A796C | chr12:52285101 | I266L | nonsynonymous SNV | rs202069826 | 0.0004152 |
| DRD5 | Dopamine Receptor D5 | C262T | chr4:9783915 | L88F | nonsynonymous SNV | rs148402761 | 0.004521 |
| SLIT3 | Slit Homolog 3 (Drosophila) | C3341G | chr5:168112927 | P1114R | nonsynonymous SNV | rs35305517 | 0.01529 |
| AQP6 | Aquaporin 6, Kidney Specific | G700A | chr12:50369305 | V234I | nonsynonymous SNV | rs17124220 | 0.06377 |
| MRVI1 | Murine Retrovirus Integration Site 1 Homolog | C556T | chr11:10650367 | P186S | nonsynonymous SNV | rs35857561 | 0.07232 |
| SSPO | SCO-Spondin | C5644T | chr7:149489491 | R1882C | nonsynonymous SNV | rs1076277 | 0.08877 |
| CHD6 | Chromodomain Helicase DNA Binding Protein 6 | C3614G | chr20:40079655 | A1205G | nonsynonymous SNV | rs41278126 | 0.03144 |