Patient | Complement factor | Genetic variants |
---|---|---|
Patient [13] | CFH | Heterozygous G3717A mutation |
Heterozygous polymorphism of C257T | ||
Heterozygous polymorphism of A2089G | ||
Heterozygous polymorphism of G2881T | ||
Heterozygous polymorphism of G1492A | ||
Patient [13] | CFH | Heterozygous G3717A mutation |
Heterozygous polymorphism of C257T | ||
Heterozygous polymorphism of A2089G | ||
Heterozygous polymorphism of G2881T | ||
Heterozygous polymorphism of C994A | ||
heterozygous polymorphism of G1492A | ||
Heterozygous polymorphism of G3364A | ||
Patient [13] | CFH | Heterozygous G3717A mutation |
Heterozygous polymorphism of C994A | ||
Heterozygous polymorphism of G1492A | ||
Patient [13] | CFH | Heterozygous polymorphism of C257T |
Heterozygous polymorphism of C994A | ||
Heterozygous polymorphism of G3364A | ||
Patient [13] | CFH | Heterozygous polymorphism of C257T |
Heterozygous polymorphism of A2089G | ||
Heterozygous polymorphism of G2881T | ||
Heterozygous polymorphism of G1492A | ||
C3645T (Ser1191Leu) in exon 23 | ||
Patient [13] | CFH | Heterozygous polymorphism of C257T |
Heterozygous polymorphism of A2089G | ||
Heterozygous polymorphism of G2881T | ||
Patient [13] | CFH | heterozygous polymorphism of C257T |
Heterozygous polymorphism of A2089G | ||
Heterozygous polymorphism of G2881T | ||
Patient [21] | C3 | p.I1157T |
CFH | p.E936D(homo) | |
CFB | p.R32W | |
Patient [21] | C3 | p.I1157T(homo) |
CFH | p.E936D | |
CFB | p.R32W | |
THBD | p.D486Y | |
Patient [21] | C3 | p.I1157T |
CFH | p.E936D(homo) | |
 | p.Y1058H | |
 | p.V1060L | |
CFB | p.R32W | |
Patient [21] | C3 | p.I1157T |
CFH | p.V62I | |
 | p.E936D | |
 | p.Y1058H | |
 | p.V1060L | |
CFI | p.R406H | |
THBD | p.A473V | |
Patient [21] | C3 | p.I1157T |
CFH | p.E936D(homo) | |
CFI | p.R201S | |
CFB | p.R32W | |
Patient [18] | C3 | p.I1157T |
CFH | p.V837I | |
 | p.E936D | |
CFI | p.R201S | |
CFB | p.R32W(homo) | |
Patient [21] | C3 | p.I1157T |
CFH | p.V62I | |
p.E936D | ||
THBD | p.R403K | |
p.A473V | ||
Patient [21] | C3 | p.I1157T |
CFH | p.V62I | |
p.E936D | ||
p.Y1058H | ||
p.V1060L | ||
CFB | p.R32Q | |
Patient [22] | C3 | p.I1157T |
CFH | p.Y1058H | |
p.V1060L | ||
Patient [23] | CFH | p.R1215Q |
Patient [24] | MCP | p.Ala311Val |
Patient [25] | C3 | p.R425C |
Patient [26] | CFH | p.R1215G |
Patient [12] | CFH | p.Val62Ile |
p.His402Tyr | ||
Patient [27] | THBD | p.Val231Ile (heterozygous) |
Patient [27] | MCP | p.Ala311Val |
Patient [28] | CFHR | del-CFHR1 |
Patient [29] | CFH | p.R1215G |
Patient [30] | CFHR | del CFHR1-CFHR3 |
Patient [31] | C3 | p.I1157T |
Patient [32] | CFH | p.R1215Q |
Patient [33] | CFHR | Heterozygous CFHR3-CFHR1gene deletion |
Patient [34] | CFB | p.Leu9His |
CFH | p.Glu936Asp | |
CFHR5 | p.Pro453Ser | |
THBD | p.Ala473Val | |
Patient [34] | CFB | p.Arg32Gln |
CFH | p.Val63Ile | |
p.His402Tyr | ||
p.Glu936Asp | ||
Patient [35] | C3 | p.Ile1157Thr |
MCP | p.Pro195Ser | |
Patient [35] | CFB | p.Leu9His |
MCP | p.Ala311Val | |
Patient [35] | CFH | p.Phe176Leu |
p.Arg1215Gln | ||
CFHR5 | p.Pro453Ser | |
Patient [35] | C3 | p.Ser179Pro |
CFH | p.His402Tyr | |
p.Glu936Asp | ||
Patient [35] | CFH | p.His402Tyr |
p.Glu936Asp | ||
MCP | p.Thr163Ile | |
Patient [35] | DGKE | c.71delT |
c.1213-2A>G |