Table 2.
Rare and novel functional variants identified
| Disease (n) | CFH | CD46 | CFI | CFB | C3 | CFHR5 | ADAMTS13 | THBD | DGKE | PLG | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| TMA (147) | 14 | 9 | 10 | 1 | 8 | 4 | 10 | 2 | 3 | 4 | 65 |
| aHUS (118) | 12 (4)a | 9 (3) | 8 (2) | 1 | 7 (1) | 2 | 6 | 3 (2) | 3 | 51 | |
| TTP (6) | 1 (1) | 2 | 1 | 4 | |||||||
| aHUS/TTPb (12) | 1 | 1 | 2 | 1 | 1 | 6 | |||||
| Other (11) | 1 | 1 (1) | 2 (1) | 4 | |||||||
| C3G (37) | 6 | 0 | 2 | 3 | 5 | 1 | 1 | 1 | 3 | 1 | 23 |
| C3GN (30) | 5 | 1 | 3 | 3 (2) | 1 | 1 | 1 | 2 | 1 | 18 | |
| DDD (5) | 1 | 1 | 2 | 4 | |||||||
| C3GN/DDDb (2) | 1 | 1 | |||||||||
| Other (9) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 3 |
| SLE (4) | 0 | ||||||||||
| ARF (2) | 0 | ||||||||||
| IgAN (2) | 1 | 2 | 3 | ||||||||
| Acute GN (1) | 0 |
a
Variant count: total (novel); novel variants are not reported in any database or literature.
b
Ambiguous diagnostic information was provided for some patients.