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Table 3 Disease causing variant and phenotype in Chinese patients with D-G6PD and hemizygote missense variant in G6PD

From: A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

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