Table 4.

Common disease-causing variants within ATP7B among 569 WD patients.

Mutation	Domain affected	Number of patients			Allelic Frequencies	Classification
		WW	WM	MM
p.R778L	TM4	270	235	64	0.319	Pathogenic
p.P992L	TM6/Ph	419	124	26	0.155	Pathogenic
p.T935M	TM5	482	86	1	0.077	Pathogenic
p.A874V	Td/TM5	529	37	3	0.038	Likely pathogenic
p.I1148T	ATP loop	530	38	1	0.035	Likely pathogenic
p.Q511X	Cu5	541	26	2	0.026	Pathogenic
p.G943D	TM5	543	25	1	0.024	Pathogenic
p.N1270S	ATP hinge	544	25	0	0.022	Pathogenic
p.R778Q	TM4	548	18	3	0.021	Pathogenic
p.R919G	Td/TM5	545	24	0	0.021	Pathogenic
p.V1216M	ATP bind	547	20	2	0.021	Likely pathogenic
p.V176SfsX28	Cu2	551	17	1	0.017	Pathogenic
c.1708-1g>c	Cu6	553	14	2	0.016	Pathogenic
p.V1106I	ATP loop	556	13	0	0.011	Pathogenic

WW: neither of chromosome carries mutation; WM: one chromosome carries mutation;

MM: both chromosomes carry mutations.