Table 2.

Known cases of DNASE1L3 mutations in human subjects.

	Cohort details	Identified mutations in DNASE1L3	Disease characteristics	Reference
1.	6 families 17 affected subjects (6 Females. 11 males)	Homozygous 1-bp deletion c.643deiT	ANA+ve, Anti-dsDNA+ve, ANCA+ve Hypocomplementemia Nephritis in 10 subjects SLE in all subjects with SLEDAI: 8-22	(148)
2.	2 families 5 affected subjects (All females)	Homozygousframeshift mutation. c.289_290deiAC and c.320+4deiAGTA	HUVS in all subjects SLE in 4 subjects ANA+ve, Anti-dsDNA+ve, ANCA+ve Hypocomplementemia Nephntis(classll-111) in 3 subjects	(149)
3.	1 family 4 affected subjects (2 females. 2 males)	Homozygous 2b frameshift deletion c.289_290deiAC	ANA+ve, Anti-dsDNA+ve, ANCA+ve Polyarthritis Glomerulonephritis Vasculitis Hypocomplementemia	(150)
4.	9 populalons >90 subjects per group	Heterozygous SNP C686fT686 resulting in R206C substitution Found mainly in European Populations	Reduced Dnase1L3 enzymatic activity Disease association not studied	(151)