Table 3 Showing the individuals without VUS in well-known disease genes. The population means in these individuals were compared to healthy controls and shown as percentages. For each of the six assays, the features as shown in Table 1 were used for quantification. Percentage values highlighted in bold indicate the values are outside the reference range measured in healthy controls
Patient ID | Gene | Golgi | ER stress | Autophagy | Llysosomes | Membrane potential | Mitochondrial mass | NFκβ- translocation |
|---|---|---|---|---|---|---|---|---|
143 | CSDE1VUS | 32% | 72% | 112% | 62% | 47% | 79% | 149% |
140 | LIMK1VUS | 112% | 173% | 90% | 153% | 138% | 66% | 160% |
093 | LIMK1VUS | 98% | 145% | 95% | 158% | 98% | 119% | 111% |
225 | ZNF806VUS | 63% | 186% | 81% | 135% | 68% | 48% | 167% |
227 | PDE3BVUS | 112% | 141% | 154% | 130% | 119% | 95% | 167% |
228 | MMS19VUS | 112% | 142% | 99% | 106% | 96% | 146% | 201% |
034 | NA | 99% | 113% | 126% | 146% | 63% | 153% | 183% |
211 | DLGAP2VUS, TNKSVUS, BLMVUS | 118% | 107% | 88% | 75% | 73% | 48% | 109% |
106 | RAD54L2VUS | 105% | 111% | 90% | 106% | 81% | 77% | 69% |
226 | PDE4DIPVUS | 90% | 33% | 124% | 152% | 127% | 97% | 66% |
216 | NA | 114% | 152% | 111% | 104% | 124% | 99% | 79% |
202 | MEIOCVUS | 132% | 78% | 95% | 81% | 101% | 101% | 97% |
217 | EIF4ENIF1VUS | 109% | 82% | 106% | 68% | 100% | 66% | 111% |