. 2022 Apr 13;15:2349–2363. doi: 10.2147/JIR.S351416

Table 4.

Mutations in Complement and Coagulation Cascades Pathway in Patients with ANP and IEP

Group	Gene	ID	Region	Variation Type	Accession	Genotype^a
ANP	A₂m	rs775058537	Splicing		NC_000012.11	g.9221327_9221330del
	A₂m	rs200420993	Exonic	Missense SNV	NC_000012.1	g.9266056G>A
	C1R	rs749274074	Exonic	Unknown	NC_000012.1	g.7241493C>T
	C3	rs138900723	Exonic	Missense SNV	NC_000019.9	g.6690729G>A
	C4BPA	rs140703266	Exonic	Missense SNV	NC_000001.10	g.207317935T>C
	C4BPB	rs764052227	Exonic	Missense SNV	NC_000001.10	g.207263768G>T
	C6		Exonic	Missense SNV	NC_000005.9	g.41159349A>G
	C7	rs200622924	Exonic	Missense SNV	NC_000005.9	g.40958328C>T
	C7	rs375805678	Exonic	Missense SNV	NC_000005.9	g.40981640A>G
	C8A	rs145228353	Exonic	Missense SNV	NC_000001.10	g.57341837G>A
	C8G	rs148537245	Exonic	Missense SNV	NC_000001.10	g.139840422C>T
	C8G	rs200109501	Splicing		NC_000001.10	g.139841101A>G
	C9	rs121909592	Exonic	Stop gain	NC_000005.9	g.39341378G>A
	CD46		Splicing		NC_000001.10	g.207930549_ 207930550ins AAGTAAACAAA
	CD46	rs368371683	Exonic	Missense SNV	NC_000001.10	g.207934692G>C
	CFH	rs367837226	Splicing		NC_000001.10	g.196646807A>G
	CFI	rs763931500	Exonic	Missense SNV	NC_000004.11	g.110670410C>A
	CPB2	rs202020888	Exonic	Missense SNV	NC_000013.10	g.46629913A>C
	CR1	rs55906048	Exonic	Missense SNV	NC_000001.10	g.207680151A>C
	CR1		Splicing		NC_000001.10	g.207787835G>A
	CR1		Exonic	Missense SNV	NC_000001.10	g.207791445G>A
	CR2	rs201760344	Exonic	Missense SNV	NC_000001.10	g.207642150C>T
	F11	rs281875279	Exonic	Stopgain	NC_000004.11	g.187197527G>A
	F12	rs138580930	Exonic	Missense SNV	NC_000005.9	g.176829661C>A
	F12	rs368879882	Exonic	Missense SNV	NC_000005.9	g.176832982G>A
	F5	rs774639785	Exonic	Missense SNV	NC_000001.10	g.169495167C>T
	F7	rs121964936	Exonic	Missense SNV	NC_000013.10	g.113773145T>G
	KLKB1		Exonic	Missense SNV	NC_000004.11	g.187179251G>T
	KNG1	rs187202560	Splicing		NC_000003.11	g.186459303C>T
	KNG1	rs1085307077	Exonic	Frameshift deletion	NC_000003.11	g.186460048_ 186460051del
	MASP1	rs755157142	Exonic	Missense SNV	NC_000003.11	g.186944295G>C
	PLG	rs4252128	Exonic	Missense SNV	NC_000006.11	g.161152819C>T
	PROC	rs121918145	Exonic	Missense SNV	NC_000002.11	g.128183754C>T
	SERPINA1	rs200945035	Exonic	Missense SNV	NC_000014.8	g.94844968T>C
	SERPINA5	rs201869477	Exonic	Missense SNV	NC_000014.8	g.95056500C>G
	SERPIND1	rs181138395	Exonic	Missense SNV	NC_000022.10	g.21138310C>T
	VWF	rs773544469	Exonic	Missense SNV	NC_000012.11	g.6127617G>A
	VWF		Exonic	Missense SNV	NC_000012.11	g.6143942G>A
	VWF	rs189409574	Exonic	Missense SNV	NC_000012.11	g.6172134T>C
IEP	C1QC	rs560156356	Exonic	Missense SNV	NC_000001.10	g.22974053C>T
	C1R	rs144141261	Exonic	Unknown	NC_000012.11	g.7242267G>A
	C5	rs747276237	Exonic	Missense SNV	NC_000009.11	g.123752013C>T
	C5		Exonic	Missense SNV	NC_000009.11	g.123760048C>T
	C9	rs527488079	Exonic	Missense SNV	NC_000005.9	g.39308359A>G
	CR1	rs376980117	Exonic	Missense SNV	NC_000001.10	g.207785379G>A
	F10		Exonic	Missense SNV	NC_000013.10	g.113803358A>G
	F5	rs201292247	Exonic	Missense SNV	NC_000001.10	g.169512296T>C
	F9	rs762986355	Exonic	Missense SNV	NC_000023.10	g.138633223C>T
	KNG1	rs1085307077	Exonic	Frameshift deletion	NC_000003.11	g.186460048_ 186460051del
	MASP1	rs3774266	Exonic	Missense SNV	NC_000003.11	g.186937924C>T
	PLAU	rs192623012	Exonic	Missense SNV	NC_000010.10	g.75673753G>T
	PLG	rs139357983	Exonic	Missense SNV	NC_000006.11	g.161132157C>T
	Serpinc1		Exonic	Missense SNV	NC_000001.10	g.173876643G>A
	VWF	rs372028373	Exonic	Missense SNV	NC_000012.11	g.6128632C>T
	VWF	rs139196998	Exonic	Missense SNV	NC_000012.11	g.6167131G>A