Table 2

Summary of mutation

NFKB2
Variant chr10:104162024A>G 
g.2594 A>G; c.2594A>G; 
Protein D865G 
Mutation taster Disease causing P = 0.999979076300663 
SIFT Damaging (0.04) 
PolyPhen-2 Probably damaging 1.0 (sensitivity 0, specificity 1.0) 
NFKB2
Variant chr10:104162024A>G 
g.2594 A>G; c.2594A>G; 
Protein D865G 
Mutation taster Disease causing P = 0.999979076300663 
SIFT Damaging (0.04) 
PolyPhen-2 Probably damaging 1.0 (sensitivity 0, specificity 1.0) 
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