Table 2.

Currently reported DDX11 variants in WABS patients.

		Variant 1		Variant 2
		DNA	Protein	DNA	Protein
v.d. Lelij et al.1	WABS01	c.2271+2T>C	p.C754P fs*9	c.2689-2691del	p.K897del
Capo-Chichi et al.6	3 patients	c.788G>A	p.R263Q	c.788G>A	p.R263Q
Bailey et al.5	1 patient	c.638+1G>A	splice site	c.1888delC	p.R630F fs*23
Eppley et al.7	2 patients	c.1523T>G	p.L508R	c.1949-1G>A	splice site
Alkhunazi et al.4	Patient 1	c.606delC	p.Y202*	c.2372G>A	p.R791Q
	Patient 2	c.1133G>C	p.R378P	c.1133G>C	p.R378P
	Patient 3+4	c.2576T>G	p.V859G	c.2576T>G	p.V859G
	Patient 5	c.2638dupG	p.A880G fs*94	c.2638dupG	p.A880G fs*94
Bottega et al.8	2 patients	c.2507T>C	p.L836P	c.907-920del	p.K303E fs*22
Rabin et al.9	2 patients	c.1763-1G>C	splice site	c.1763-1G>C	splice site
Present study	WABS02	c.169G>C	p.G57R	c.2692-1G>A	p.K897_F898ins25
	WABS03	c.1403dupT	p.S469V fs*31	c.419G>A	p.R140Q
	WABS04	c.1930G>A	p.V644M	c.2114G>A	p.C705Y
	WABS05+WABS06	c.2571C>A	p.S857R	c.1672C>T	p.R558*
	WABS07+WABS08	c.1946-1948del	p.G650del	c.1763-1G>C	p.G588A fs*6

Note that the pathogenicity of variant c.419G>A (p.R140Q) in patient WABS03 is uncertain.