Table 3.

Disease causing variant and phenotype in Chinese patients with D-G6PD and hemizygote missense variant in G6PD

Genome (h19)	DNA	Protein	known variant	SIFT		PROVEAN		Variant taster		PolyPhen-2
			ExAC or 1000G	score	prediction	score	prediction	prediction	probability	Prediction	Confidence
Chr X: 153760951 T > C	c.1118 T > C	p.Phe373Ser	No reports	0.000	Damaging	−6.58	Deleterious	disease-causing	1.0	Probably damaging	0.996