Table 2.

Summary of 27 variants identified in patients with aHUS

Gene	Patient code	Inheritance	SNP rs	Nucleotide	Predicted consequence	MAF score
						HGVD	1000 Genomes_phase3
C3	TC32	Heterozygous	–	c.535T>C	p.S179P	–	–
	TC28	Heterozygous	–	c.544T>C	p.S182P	–	–
	TC4	Heterozygous	–	c.640C>T	p.P214S	–	–
	2H	Heterozygous	rs200967589	c.1273C>T	p.R425C	0.0022	0.0006
	TC3	Heterozygous	rs767334972	c.1663G>A	p.V555I	–	–
	TC42	Heterozygous	–	c.3125G>T	p.R1042L	–	–
	3O	Heterozygous	–	c.3313A>C	p.K1105Q	–	–
	F1, F2, F3, F5, G1, G2, G3, H1, H2, 2A, 2J1, 2J2, 2N, 2Q, 2S, 2U, 2V, 2Z, 3M, 3V, 4B, 4G1, 4G2, TC46	Heterozygous	–	c.3470T>C	p.I1157T	–	–
	3Z	Heterozygous	–	c.3478G>A	p.E1160K	–	–
CFH	TC20a	Heterozygous	rs762132970	c.526T>C	p.F176L	–	–
	TC36	Heterozygous	–	c.695G>A	p.R232Q	–	–
	TC14a	Heterozygous	–	c.1951C>T	p.H651Y	–	–
	TC7	Heterozygous	rs55931547	c.2392G>A	p.D798N	0.002	–
	TC33	Heterozygous	–	c.3572C>G	p.S1191W	–	–
	TC14	Heterozygous	–	c.3593A>T	p.E1198V	–	–
	TC1	Heterozygous	–	c.3594A>T	p.E1198D	–	–
	2M, TC8	Heterozygous	rs121913051	c.3643C>G	p.R1215G	–	–
	X, 2I, TC20	Heterozygous	–	c.3644G>A	p.R1215Q	–	–
THBD	2Ia	Heterozygous	–	c.1499C>T	T500M	–	–
MCP	M1, M2	Homozygous	–	c.191G>A	p.C64Y	–	–
	F3a, F5a, TC43	Heterozygous	rs116800126	c.293C>T	p.T98I	0.0036	0.001
	P	Homozygous	–	c.509delA	p.N170Mfsa9	–	–
	2D	Heterozygous	rs202071781	c.565T>G	p.Y189D	0.000008	0.0002
	2Ua	Heterozygous	rs773860894	c.583C>T	p.P195S	0.00002	–
	2Da	Heterozygous	rs767322836	c.1076C>T	p.A359V	0.00002	–
DGKE	2R	Heterozygous	–	c.71delT	p.L24Cfsa145	–	–
	2R	Heterozygous	–	c.1213-2A>G	r.spl? p.(A405_E428del)	–	–

MAF minor allele frequency

^aPatients who had another candidate aHUS-predisposing variant with known pathogenicity