Table 3.

Molecular characterization of patients phenotypically diagnosed as CGD.

Patient no.	Defective protein	Defective gene	Mutation type	Nucleotide change	Protein change	Location
1	p47 phox	NCF1	Not determined	Not determined	-	-
2	p47 phox	NCF1	Deletion	c.75_76delGT	p. Y26HfsX26	Exon 2
3	p47 phox	NCF1	Deletion	c.75_76delGT	p. Y26HfsX26	Exon 2
4	gp91phox	CYBB	Splice site	c. 338-4T>A	Not applicable	Intron 4
5	gp91 phox	CYBB	Missense	c.1546T>A	p.W516R	Exon 12