Table 2.

Mutation screening of the genes encoding complement factor H, membrane cofactor protein, complement factor I, complement factor B, complement components C3, and thrombomodulin and measurement of the copy number of the genes encoding complement factor H–related proteins 1, 3, and 4

Patient ID	CFH	CD46	CFI	CFB	C3	THBD	CFHR1 Copy Number	CFHR3 Copy Number	CFHR4 Copy Number
1	c.3468dupA	nmd	c.1657 C>T; p.Pro553Ser	nmd	nmd	nmd	2	2	2
2	c.2018G>A; p.Cys673Tyr	nmd	nmd	nmd	nmd	nmd	2	2	2
3	nmd	nmd	nmd	nmd	nmd	nmd	2	2	2

CFH, complement factor H; CD46, membrane cofactor protein; CFI, complement factor I; CFB, complement factor B; C3, complement component C3; THBD, thrombomodulin; CFHR1, 3, and 4; complement factor H–related proteins 1, 3, and 4; nmd, no mutation detected.