Table 1.

Qualifying variants in the top 5 significant genes in the asymptomatic cohort

Variant	Gene	rsID	Variant Effect	MAF (NFE Population)a	CADD Score	MutationTaster	M-CAP score	No of Heterozygotes
p.(Ser109Cys)	MASP1	NA	Missense SNV	0	27.2	Disease	0.03738	1
p.(Arg677Cys)	MASP1	rs368168610	Missense SNV	0.00003434	29	Disease	0.231827	1
p.(Tyr244Cys)	MASP1	rs28945071	Missense SNV	0.0005	27.4	Disease	0.138472	1
p.(Val666Leu)	MASP1	NA	Missense SNV	0.000001804	33	Disease	0.172555	2
p.(Lys591Alafs∗14)	MASP1	rs533160857	Frameshift deletion	0.00013334	39	NA	NA	3
p.(Ser174Leu)	COLEC11	rs140226372	Missense SNV	0	32	Disease	0.070292	2
p.(Glu34Gly)	COLEC11	NA	Missense SNV	0	25.3	Disease	0.620558	4
p.(Asp81Gly)	COLEC10	rs770053333	Missense SNV	0.000001796	17.21	Disease	0.05912	5
p.(Arg130∗)	CFHR2	rs41313888	Stop gain	0.000575	34	Disease	NA	1
p.(Thr67Asnfs∗3)	CFHR2	rs779257906	Frameshift insertion	0.000008975	NA	NA	NA	1
p.(Pro166Ser)	CD55	rs924315999	Missense SNV	0.000002245	24.9	Disease	0.201836	1
p.(Cys225Arg)	CD55	NA	Missense SNV	0	23.5	Disease	0.645858	1

CADD, Combined Annotation Dependent Depletion; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database; MAF, minor allele frequency; M-CAP, Mendelian Clinically Applicable Pathogenicity; NA, not applicable; NFE, non-Finnish European; SNV, single-nucleotide variation.

^aMean of MAF frequency in NFE population according to gnomAD, ExAC, and 1000 Genomes projects.