Table 2.
Novel sequence variants found in DDD patients
| Gene | Variant | Patients | ConSeq | PolyPhen | SIFT | Align GVGD |
|---|---|---|---|---|---|---|
| C3 | c0.3607 A>G p.K1203R | 1 | 1 | Benign | Affects protein function | Least likely to interfere with function |
| C3aR1 | c0.250 C>T p.L84F | 2 | 4 | Possibly damaging | Tolerated | Least likely to interfere with function |
| CR1 | c0.3664 G>T p.V1222L | 1 | 2 | Benign | Tolerated | Least likely to interfere with function |
| ADAM19 | c0.1522 G>A p.G507S | 1 | 1 | Benign | Tolerated | Most likely to interfere with function |