Table II.
Detailed characteristics of the variants in complement genes.
| Gene | Variant | Protein | MAF, % | In vitro defect | Classification |
|---|---|---|---|---|---|
| CFH | c.2558G>A | C853Y | 0 | Loss of function | Pathogenic |
| CFH | c.3486delA | K1162Nfs*7 | 0 | Loss of function | Pathogenic |
| CFI | c.772G>A | A258T | <0·03 | Unknown | Uncertain significance |
| CFI | c.1420C>T | R474* | <0·01 | Loss of function | Pathogenic |
| CD46 | c.811_816delGACAGT | ΔD271/S272 | 0 | Loss of function | Pathogenic |
| C3 | c.481C>T | R161W | <0·01 | Gain of function | Pathogenic |
| C3 | c.463A>C | K155Q | 0·2–0·4 | Gain of function | Pathogenic |
| C3 | c.3125G>A | R1042Q | 0 | Unknown | Uncertain significance |
MAF, minor allele frequency.