Table 1.

Pathogenic variants in patients with DADA2 from PUMCH

		P1	P1	P2	P3	P3	P4	P4	P5	P5
ADA2 mutation	Nucleotide Changes	c.1232A > G	c.983A > T	c.13G > C	c.878A > C	c.263A > G	c.506G > A	c.393delG	c.254A > T	c.851G > T
	Amino Acid Changes	p.Y411C	p.N328I	p.G5R	p.H293P	p.Y88C	p.R169Q	p.R131Sfsb52	p.N85I	p.G284V
	Gene Type	het	het	het	het	het	het	het	het	het
Gene Database	dbsnp147	rs376785840	–	rs202134424	rs2231495	–	rs77563738	–	rs547716532	–
	PathSNP	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
	MutInNormal	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
	1000Genome	N/A	N/A	N/A	chr22–17,669,306	N/A	chr22–17,687,997	N/A	N/A	N/A
	MutInDatabase	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
MAF	1000g2015aug_all	–	–	–	–	–	0.0002	–	–	–
	ESP6500si	0.0002	–	–	–	–	0.0005	–	–	–
	ExAC_ALL	0.0001	–	0.0000	0.00002478	–	0.0005	–	0.0000	–
	ExAC_EAS	–	–	–	–	–	–	–	–	–
Patho-genicity speculated by software	SIFT	0.003	0.0	0.002	0.2	0.002	0.0	–	0.001	0.003
	SIFT_Predict	Damaging	Damaging	Damaging	Tolerated	Damaging	Damaging	–	Damaging	Damaging
	PolyPhen2	0.998	1.0	0.999	0.055	0.999	0.993	–	0.973	1.0
	PolyPhen2 Predict	Probably damaging	Probably damaging	Probably damaging	Benign	Probably damaging	Probably damaging	–	Probably damaging	Probably damaging
	MutationTaster	0.999	1.000	1	1	1	1	–	1.000	1
	MutationTaster Predict	Disease causing	Disease causing	Disease causing	Polymorphism_automatic	Disease causing	Polymorphism	–	Disease causing	Disease causing
	GERP++	2.73	2.68	4.76	0.283	3.26	2.21	–	3.54	4.02
	GERP++ Predict	Conserved	Conserved	Conserved	Nonconserved	Conserved	Conserved	–	Conserved	Conserved

N/A, not available