Table 6 Mutation screening of CFH , CD46... | American Society of Hematology

Table 6

Mutation screening of CFH, CD46, CFI, CFB, C3, and measurement of CFHR1, CFHR3, and CFHR4 copy number

Patient ID	CFH	CD46	CFI	CFB	C3	Copy number
Patient ID	CFH	CD46	CFI	CFB	C3	CFHR1	CFHR3	CFHR4
1	nmd	nmd	nmd	nmd	nmd	0	0	2
2	nmd	nmd	nmd	nmd	c.-3_-2dup	0	0	2
3	nmd	nmd	nmd	nmd	nmd	0	1	1
4	nmd	nmd	Exon 11, c.1216C>T;p.Arg406Cys	nmd	nmd	0	1	1
5	nmd	nmd	nmd	nmd	c.1898A>G;p.Lys633Arg	0	0	2
6	nmd	nmd	nmd	nmd	nmd	2	2	2
7	nmd	nmd	nmd	nmd	nmd	2	2	2
8	nmd	nmd	nmd	nmd	nmd	0	0	2
9	nmd	c.718T>C;p. Ser240Pro	nmd	nmd	nmd	2	2	2
10	nmd	nmd	nmd	nmd	nmd	0	1	1
11	nmd	nmd	nmd	nmd	nmd	0	0	2
12	c.2850G>T; p.Gln950His	nmd	nmd	nmd	nmd	0	0	2
13	nmd	nmd	nmd	nmd	nmd	0	0	2

Patient ID	CFH	CD46	CFI	CFB	C3	Copy number
Patient ID	CFH	CD46	CFI	CFB	C3	CFHR1	CFHR3	CFHR4
1	nmd	nmd	nmd	nmd	nmd	0	0	2
2	nmd	nmd	nmd	nmd	c.-3_-2dup	0	0	2
3	nmd	nmd	nmd	nmd	nmd	0	1	1
4	nmd	nmd	Exon 11, c.1216C>T;p.Arg406Cys	nmd	nmd	0	1	1
5	nmd	nmd	nmd	nmd	c.1898A>G;p.Lys633Arg	0	0	2
6	nmd	nmd	nmd	nmd	nmd	2	2	2
7	nmd	nmd	nmd	nmd	nmd	2	2	2
8	nmd	nmd	nmd	nmd	nmd	0	0	2
9	nmd	c.718T>C;p. Ser240Pro	nmd	nmd	nmd	2	2	2
10	nmd	nmd	nmd	nmd	nmd	0	1	1
11	nmd	nmd	nmd	nmd	nmd	0	0	2
12	c.2850G>T; p.Gln950His	nmd	nmd	nmd	nmd	0	0	2
13	nmd	nmd	nmd	nmd	nmd	0	0	2

CFHR indicates complement factor H–related; and nmd, no mutation detected.