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)