Table 2.

Congenital anomalies of reported variants residing in different regions of the CK2α protein

Individual			Variant	Reference	Age (y)	Sex	Anomalies
No.	Structural domain						Brain	Facial	Eyes/Ears	Skeletal	Limbs	Skin	Cardiac	Renal	Imm	GHD	SS	Micro	GR	Score
1	ATP/GTP binding loop	1	p.R47Q	5	6.1	M					+		+		+				+	4
2		2	p.R47Q	3	6	F	+	+			+	+						+		5
3		3	p.R47Q	11	2	F	+	+		+	+	+	+				+	+	+	9
4		4	p.Y50S	3	2	F		+	+	+	+	+			+		+	+	+	9
5		5	p.Y50C	13	8	M	+	+		+					+	+	+		+	7
6		6	p.Y50C	12	5	F	+	+		+	+			+			+		+	7
7		7	p.S51R	11	4	M		+		+	+				+	+	+			6
8		8	p.S51Y	5	11.1	F				+			+				+			3
9	Basic cluster	1	p.V73E	11	8	M												+	+	2
10		2	p.R80H	5	10.7	M				+										1
11		3	p.R80C	Current report	2	M	+	+										+		3
12	Active site	1	p.D156H	9	7	M	+	+											+	3
13	Non-specific kinase domain	1	c.824 + 2T>C	3	13	F				+					+				+	3
14		2	p.P231R	11	4	M		+									+		+	3
15		3	p.R312W	5	6	F					+	+	+				+		+	5
16		4	p.R312Q	11	14	M		+									+			2
17		5	p.H160R	Current report	3	F	+	+							+	+	+			5
18	Non-kinase domain	1	p.M1V	11	2.5	F		+		+										2
19		2	p.E27K	11	14	M	+			+	+				+					4
20		3	c.1061-1G>C	7	1	M	+		+											2
21	Activation segment	1	p.I174M	5	10.9	M													+	1
22		2	p.R191Q	5	10	F							+						+	2
23		3	p.D175G	8	1.7	M	+	+										+	+	4
24		4	p.R191*	4	1.7	M														0
25		5	p.K198R	10	8	M	+	+									+			3
26		6	p.K198R	4	15	F	+	+							+		+		+	5
27		7	p.F197I	5	8	F			+								+			2
28		8	p.K198R	5	7.3	F					+						+			2
29		9	p.K198R	5	10.9	M														0
30		10	p.K198R	5	18.3	M					+						+			2
31		11	p.K198R	5	18.7	F	+											+		2
32		12	p.K198R	11	5	M		+			+									2
33		13	p.K198R	3	4.5	F	+	+		+		+			+				+	6
34		14	p.K198R	14	6.8	M	+	+									+		+	4
35		15	p.D175G	3	4	F	+	+	+									+	+	5

Y, years; M, male; F, female;

SS, Short stature; Micro, Microcephaly; Imm, Immunological abnormalities; GR, Gastroesophageal reflux disorder; GHD, Growth hormone deficiency