Table 2.

Monoallelic variants identified.

Patient ID	Gene symbol	Transcript ID	Transcript variant	Protein variant	gnomAD freq.	SIFT	PolyPhen-2	CADD score	MSC	ACMG classification
P2	NFKB1	NM_003998.3	c.950_964del CAAAGTATAAAGATA	p.P317_I322delinsL					3.313	4
P2	NFKB1	NM_003998.3	c.967A>T	p.N323Y	-	D	B	24.5	3.313	4
P3	STAT3	NM_139276.2	c.319C>T	p.R107W	-	T	PrD	25.2	15.290	3
P10	TNFAIP3	NM_006290.3	c.997dupG	p.A333fs*2	-				3.313	4
P11	IL17F	NM_052872.3	c.254C>T	p.T85I	0.002	T	B	22.5	3.313	3
P12	IRAK4	NM_016123.3	c.1120G>A	p.G374S	0.001	D	PrD	32	0.001	3
P15	TTC37	NM_014639.3	c.3988_3989delTC	p.S1330fs*14	-				4.836	4
P16	DDX41	NM_016222.3	c.1435C>T	p.R353W	0.002	D	PrD	29.8	3.313	3
P17	NLRC3	NM_178844.3	c.1189G>A	p.V397M	0.001	T	B	15.9	3.313	3
P18	TNFRSF1A	NM_001065.3	c.1343C>T	p.P448L	0.002	T	B	15	0.015	3
P18	PLCG2	NM_002661.4	c.2866C>T	p.R956C	0.002	T	PrD	33	3.313	3

D, damaging; T, Tolerated; B, Benign; PoD, Possibly Damaging; PrD, Probably Damaging.

Referencer: CADD, combined annotation dependent depletion, PMID 24487276; PolyPhen-2: PMID 20354512; SIFT: PMID 19561590; MSC, mutation significance cutoff, https://doi.org/10.1038/nmeth.3739; ACMG, American College of Medical Genetics and Genomics, https://doi.org/10.1038/gim.2015.30.