Summary of rare variants in complement genes
| . | Patients sequenced, n . | Patients with rare variants, n* . | Mutation rate (%) . |
|---|---|---|---|
| CAPS | 10 | 6 | 60.0 |
| APS | 55 | 12 | 21.8 |
| SLE | 21 | 6 | 28.6 |
| aHUS | 33 | 17 | 51.5 |
| Controls | 43 | 10 | 23.3 |
| . | Patients sequenced, n . | Patients with rare variants, n* . | Mutation rate (%) . |
|---|---|---|---|
| CAPS | 10 | 6 | 60.0 |
| APS | 55 | 12 | 21.8 |
| SLE | 21 | 6 | 28.6 |
| aHUS | 33 | 17 | 51.5 |
| Controls | 43 | 10 | 23.3 |
Genes included on the panel: CFH, CFI, CFB, CFD, CFP, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CR1, C3, THBD, CD46, DGKE.
Defined as minor allele frequency <.005