Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing

Table 2

Mutations likely associated with CVID in the three cases.

Case	Gene	dbSNP ID	mRNA Refseq	Coding change	Protein change	Functional effect	ExAC	SIFT/PolyPhen/ MutationTaster/CAD
1	LRBA	rs200809013	NM_006726	c.8436G>C	p.K2812N	missense	0.001	T/P/D/25.2
		-	NM_006726	c.4089A>T	p.Q1363H	missense	-	D/P/D/27.0
	TNFRSF13B	rs146436713	NM_012452	c.226G>A	p.G76S	missense	0.0002	D/D/D/28.6
2	LRBA	rs191899647	NM_006726	c.3764G>C	p.R1255T	missense	0.00005789	D/B/D/15.06
3	NFKB1	-	NM_003998	c.666dupG	p.P222fs	frameshift	-	-
						insertion
	LRBA	rs200935054	NM_006726	c.5084T>C	p.V1695A	missense	0.00007419	T/B/D/16.84

sing SIFT, PolyPhen, MutationTaster, and CADD to predict deleterious SNVs. SIFT (T, tolerated; D, deleterious); PolyPhen (D, probably damaging; P, possibly damaging; B, benign); MutationTaster (D, disease-causing); CADD (score>15 implied deleterious variations).