Factor V Variant Database

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Tabular Format | Multiple Variant List

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Patient ID	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain	Location	FVI:C (IU/dl)	FVI:C (%)	FVI:Ag (IU/dl)	FVI:Ag (%)	Inheritance of Primary Variant	Other Variants	Reported Severity	Comments	Reference
Patient ID	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain	Location	FVI:C (IU/dl)	FVI:C (%)	FVI:Ag (IU/dl)	FVI:Ag (%)	Inheritance of Primary Variant	Other Variants	Reported Severity	Comments	Reference	3	Deletion	Large Deletion	delexon1-7	NA	NA	NA	Multiple Domains	Exon 1-7	NA	NA	NA	NA	Heterozygous	NA	NA	Guella et al 2011
271	Deletion	Large Deletion	delexon1-7	NA	NA	NA	Multiple Domains	Exon 1-7	NA	1	NA	NA	Heterozygous	c.1975+5G>A (NA) AND c.3980A>G (p.His1327Arg)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
484	Deletion	Large Deletion	delexon1-7	NA	NA	NA	Multiple Domains	Exon 1-7	NA	1	NA	NA	Heterozygous	c.1975+5G>A (NA) AND c.3980A>G (p.His1327Arg)	Moderate	NA	Guella et al 2011
2	Deletion	Large Deletion	delexon1-7	NA	NA	NA	Multiple Domains	Exon 1-7	NA	1	NA	NA	Heterozygous	c.1975+5G>A (NA) AND c.3980A>G (p.His1327Arg)	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
97	Deletion	Large Deletion	delexon1-25	NA	NA	NA	Multiple Domains	Exon 1-25	NA	9	NA	NA	Heterozygous	c.785C>G (p.Ser262Trp)	Mild	NA	Caudill et al 2007
1	Deletion	Large Deletion	delexon1-25	NA	NA	NA	Multiple Domains	Exon 1-25	NA	9	NA	NA	Heterozygous	c.785C>G (p.Ser262Trp)	Mild	deletion of entire F5 gene	Caudill et al 2007
5	Point	Missense	c.43G>A	15	-13	p.Gly15Ser	Signal Peptide	Exon 1	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293644
6	Point	Missense	c.43G>A	15	-13	p.Gly15Ser	Signal Peptide	Exon 1	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293644
4	Point	Missense	c.43G>A	15	-13	p.Gly15Ser	Signal Peptide	Exon 1	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293644
7	Point	Missense	c.44G>A	15	-13	p.Gly15Asp	Signal Peptide	Exon 1	NA	60	NA	55	Heterozygous		Asymptomatic	>13% FV:C; major bleeding events not observed	Paraboschi et al 2020
8	Point	Missense	c.106G>A	36	8	p.Val36Met	d5A1	Exon 1	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 710594
684	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	0	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
732	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	0	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
10	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	59	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Bafunno et al 2012
685	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	59	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Bafunno et al 2012
9	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	<1	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
781	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	3	NA	2	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
11	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	3	NA	2	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6528G>C (p.Lys2176Asn)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
686	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	3	NA	2	Heterozygous	c.5789G>A (p.Gly1930Asp) AND c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
12	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	55	NA	53	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	antifibrinolytic treatment required following implantology surgery	Paraboschi et al 2019
687	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1	NA	55	NA	53	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Paraboschi et al 2019
13	Point	Intronic	c.250+1G>A	NA	NA	NA	Intron	Intron 2	NA	30	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010
14	Point	Missense	c.269T>C	90	62	p.Leu90Ser	d5A1	Exon 3	NA	43	NA	NA	Heterozygous		Asymptomatic	postoperative and postpartum bleeding	Cutler et al 2010
15	Point	Missense	c.271T>A	91	63	p.Tyr91Asn	d5A1	Exon 3	NA	51	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedure, epistaxis; haematoma	Delev et al 2009
16	Point	Missense	c.281T>C	94	66	p.Val94Ala	d5A1	Exon 3	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874767
17	Point	Missense	c.283G>A	95	67	p.Gly95Arg	d5A1	Exon 3	NA	40	NA	NA	Heterozygous		Asymptomatic	haematoma	Delev et al 2009
28	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
18	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	5	NA	6	Homozygous		Moderate	bleeding during teeth regeneration prolonged	Cao et al 2011
19	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	49	NA	85	Heterozygous		Asymptomatic	NA	Cao et al 2011
20	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	63	NA	85	Heterozygous		Asymptomatic	NA	Cao et al 2011
21	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	low	NA	low	Heterozygous		NA	NA	Huang et al 2010
22	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
746	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
59	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
23	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
24	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	66	NA	70	Heterozygous		Asymptomatic	NA	Liu et al 2014A
745	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
58	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	2	NA	<2	Heterozygous	c.524A>G (p.His175Arg) AND c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
26	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	44	NA	NA	Heterozygous		Asymptomatic	NA	Park et al 2016
25	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	41	NA	NA	Heterozygous		Asymptomatic	haematuria, menorrhagia	Park et al 2016
27	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	7	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	avascular necrosis of femoral heads needing surgery (FFP prophylaxis)	Park et al 2019
332	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3	NA	7	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	NA	Park et al 2019
29	Point	Missense	c.319G>C	107	79	p.Asp107His	d5A1	Exon 3	NA	NA	NA	NA	Heterozygous		NA	NA	Bossone et al 2003
31	Point	Missense	c.319G>C	107	79	p.Asp107His	d5A1	Exon 3	NA	NA	NA	NA	Heterozygous		NA	NA	van der Neut Kolfschoten et al 2004
30	Point	Missense	c.319G>C	107	79	p.Asp107His	d5A1	Exon 3	NA	NA	NA	NA	Both		NA	NA	Lunghi et al 2005A
32	Point	Missense	c.320A>G	107	79	p.Asp107Gly	d5A1	Exon 3	NA	0	NA	<1	Homozygous		Severe	Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported	Paraboschi et al 2020
33	Point	Missense	c.333C>A	111	83	p.Ser111Arg	d5A1	Exon 3	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 626955
34	Point	Missense	c.355T>A	119	91	p.Tyr119Asn	d5A1	Exon 3	NA	51	NA	NA	Heterozygous		Asymptomatic	muscle haematoma and one bleeding episode after delivery	Delev et al 2008
35	Point	Missense	c.358A>G	120	92	p.Ser120Gly	d5A1	Exon 3	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 626961
36	Point	Intronic	c.373+2T>C	NA	NA	NA	Intron	Intron 3	NA	<1	NA	2	Homozygous		Severe	intracranial haemorrhages even with FFP treatment and prophylaxis	Nuzzo et al 2017
37	Point	Intronic	c.373+2T>C	NA	NA	NA	Intron	Intron 3	NA	33	NA	48	Heterozygous		Asymptomatic	NA	Nuzzo et al 2017
38	Point	Intronic	c.373+2T>C	NA	NA	NA	Intron	Intron 3	NA	37	NA	27	Heterozygous		Asymptomatic	NA	Nuzzo et al 2017
39	Point	Intronic	c.373+2T>C	NA	NA	NA	Intron	Intron 3	NA	26	NA	28	Heterozygous		Asymptomatic	NA	Nuzzo et al 2017
40	Point	Missense	c.374G>A	125	97	p.Gly125Asp	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873809
42	Point	Silent	c.405NA	135	107	p.Ala135Ala	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
43	Point	Silent	c.405NA	135	107	p.Ala135Ala	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
44	Point	Silent	c.405NA	135	107	p.Ala135Ala	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
41	Point	Silent	c.405NA	135	107	p.Ala135Ala	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
45	Point	Missense	c.430C>A	144	116	p.Pro144Thr	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
48	Point	Missense	c.434G>A	145	117	p.Gly145Asp	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1312861
47	Deletion	Frameshift	c.434delG	145	117	p.Gly145Alafs*34	d5A1	Exon 4	NA	42	NA	NA	Heterozygous		Asymptomatic	mild epistaxis and gingival bleeding	Traynis et al 2006
46	Deletion	Frameshift	c.434delG	145	117	p.Gly145Alafs*34	d5A1	Exon 4	NA	45	NA	NA	Heterozygous		Asymptomatic	FVII deficiency (38% FVII:C) with paternal inheritance; microscopic haematuria	Traynis et al 2006
50	Point	Missense	c.437G>A	146	118	p.Arg146Gln	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293640
49	Point	Missense	c.437G>A	146	118	p.Arg146Gln	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293640
55	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	36	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
52	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	47	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
138	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	39	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	NA	Mumford et al 2003
53	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	39	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis of femoral vein and inferior vena cava: recurrent thrombosis even with warfarin treatment; APC resistance	Mumford et al 2003
139	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	35	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
54	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	35	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
51	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4	NA	48	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
57	Point	Missense	c.479C>G	160	132	p.Pro160Arg	d5A1	Exon 4	NA	53	NA	61	Heterozygous		Asymptomatic	NA	Paraboschi et al 2012
674	Point	Missense	c.479C>G	160	132	p.Pro160Arg	d5A1	Exon 4	NA	<1	NA	<1	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
56	Point	Missense	c.479C>G	160	132	p.Pro160Arg	d5A1	Exon 4	NA	0	NA	<1	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
60	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	60	NA	75	Heterozygous	c.6304C>T (p.Arg2102Cys)	Asymptomatic	NA	Liu et al 2014A
23	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
744	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	60	NA	75	Heterozygous	c.6304C>T (p.Arg2102Cys)	Asymptomatic	NA	Liu et al 2014A
58	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
745	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
59	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
746	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
22	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
62	Point	Missense	c.538G>A	180	152	p.Glu180Lys	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293638
61	Point	Missense	c.538G>A	180	152	p.Glu180Lys	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293638
64	Point	Silent	c.552NA	184	156	p.Ser184Ser	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
65	Point	Silent	c.552NA	184	156	p.Ser184Ser	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
66	Point	Silent	c.552NA	184	156	p.Ser184Ser	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
63	Point	Silent	c.552NA	184	156	p.Ser184Ser	d5A1	Exon 4	NA	NA	NA	NA	NA		NA	NA	Janicki et al 2013
67	Point	Missense	c.566C>T	189	161	p.Pro189Leu	d5A1	Exon 4	NA	44	NA	NA	Heterozygous		Asymptomatic	mild menorrhagia	Al-Numair et al 2019
155	Point	Missense	c.578G>C	193	165	p.Cys193Ser	d5A1	Exon 4	NA	<1	NA	<1	Heterozygous	c.1281C>G (p.Val427Val)	Severe	muscle bleeds induced by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
68	Point	Missense	c.578G>C	193	165	p.Cys193Ser	d5A1	Exon 4	NA	0	NA	<1	Heterozygous	c.1281C>G (p.Val427Val)	Severe	muscle caused by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
69	Deletion	Frameshift	c.585delA	197	169	p.Thr197Profs*2	d5A1	Exon 4	NA	1	NA	2	Heterozygous		Moderate	NA	Hou et al 2003
70	Duplication	Inframe	c.601_678dup	201	173	p.Gly201_Gln226dup	d5A1	Exon 5	NA	41	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010
72	Point	Missense	c.628C>A	210	182	p.Gln210Lys	d5A1	Exon 5	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875606
71	Point	Missense	c.628C>A	210	182	p.Gln210Lys	d5A1	Exon 5	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875606
73	Point	Missense	c.647C>T	216	188	p.Ala216Val	d5A1	Exon 5	NA	15	NA	NA	Homozygous		Asymptomatic	invasive procedure caused bleeding	Delev et al 2009
75	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5	NA	12	NA	<2	Homozygous		Asymptomatic	age 15	Kanaji et al 2009
74	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5	NA	6	NA	<2	Homozygous		Mild	age 80	Kanaji et al 2009
78	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5	NA	67	NA	49	Heterozygous		Asymptomatic	NA	Kanaji et al 2009
76	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5	NA	60	NA	40	Heterozygous		Asymptomatic	NA	Kanaji et al 2009
77	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5	NA	56	NA	32	Heterozygous		Asymptomatic	NA	Kanaji et al 2009
79	Point	Missense	c.692T>G	231	203	p.Met231Arg	d5A1	Exon 5	NA	0	NA	NA	Homozygous		Severe	intracranial bleeding immediately after birth, umbilical stump bleeding	Chapla et al 2011
80	Point	Missense	c.692T>G	231	203	p.Met231Arg	d5A1	Exon 5	NA	0	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
703	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5	NA	0	NA	<1	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth	Frotscher et al 2012
82	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5	NA	0	NA	<1	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth; spontaneous left knee haemarthrosis; subdural and extradural haematoma	Frotscher et al 2012
83	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5	NA	36	NA	NA	Heterozygous		Asymptomatic	NA	Frotscher et al 2012
702	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5	NA	0	NA	<1	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and other minor bleeds	Frotscher et al 2012
81	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5	NA	0	NA	<1	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and additional minor bleeds	Frotscher et al 2012
84	Point	Nonsense	c.706G>T	236	208	p.Gly236*	d5A1	Exon 5	NA	37	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010
85	Point	Intronic	c.731-2A>C	NA	NA	NA	Intron	Intron 5	NA	55	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
87	Point	Missense	c.746C>T	249	221	p.Ala249Val	d5A1	Exon 6	NA	27	NA	50	Heterozygous		Asymptomatic	NA	Murray et al 1995
88	Point	Missense	c.746C>T	249	221	p.Ala249Val	d5A1	Exon 6	NA	77	NA	101	Heterozygous		Asymptomatic	NA	Murray et al 1995
86	Point	Missense	c.746C>T	249	221	p.Ala249Val	d5A1	Exon 6	NA	26	NA	39	Heterozygous		Asymptomatic	gum and rectal bleeding; epistaxis	Murray et al 1995
573	Point	Missense	c.763T>C	255	227	p.Trp255Arg	d5A1	Exon 6	NA	3	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
89	Point	Missense	c.763T>C	255	227	p.Trp255Arg	d5A1	Exon 6	NA	3	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
90	Point	Missense	c.763T>C	255	227	p.Trp255Arg	d5A1	Exon 6	NA	0	NA	4	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding	Duckers et al 2010
540	Point	Missense	c.763T>C	255	227	p.Trp255Arg	d5A1	Exon 6	NA	0	NA	4	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding; occasional menses	Duckers et al 2010
91	Point	Missense	c.773T>C	258	230	p.Leu258Pro	d5A1	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627377
134	Point	Missense	c.776G>A	259	231	p.Gly259Glu	d5A1	Exon 6	NA	6	NA	6	Heterozygous	c.1118+1278 (NA)	Mild	NA	Cutler et al 2010
92	Point	Missense	c.776G>A	259	231	p.Gly259Glu	d5A1	Exon 6	NA	6	NA	6	Heterozygous	c.1118+1278 (NA)	Mild	NA	Cutler et al 2010
171	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6	NA	6	NA	33	Heterozygous	c.1321C>T (p.Arg441Cys)	Mild	NA	Jin et al 2009
94	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6	NA	66	NA	72	Heterozygous		Asymptomatic	NA	Jin et al 2009
95	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6	NA	58	NA	67	Heterozygous		Asymptomatic	NA	Jin et al 2009
96	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6	NA	52	NA	77	Heterozygous		Asymptomatic	NA	Jin et al 2009
93	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6	NA	6	NA	33	Heterozygous	c.1321C>T (p.Arg441Cys)	Mild	NA	Jin et al 2009
97	Point	Missense	c.785C>G	262	234	p.Ser262Trp	d5A1	Exon 6	NA	9	NA	NA	Heterozygous	delexon1-25 (NA)	Mild	NA	Caudill et al 2007
1	Point	Missense	c.785C>G	262	234	p.Ser262Trp	d5A1	Exon 6	NA	9	NA	NA	Heterozygous	delexon1-25 (NA)	Mild	deletion of entire F5 gene	Caudill et al 2007
98	Point	Missense	c.833A>G	278	250	p.Gln278Arg	d5A1	Exon 6	NA	42	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
99	Point	Missense	c.834G>C	278	250	p.Gln278His	d5B	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806280
101	Point	Missense	c.886G>A	296	268	p.Ala296Thr	d5A1	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293634
100	Point	Missense	c.886G>A	296	268	p.Ala296Thr	d5A1	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293634
102	Point	Missense	c.910G>A	304	276	p.Gly304Arg	d5A1	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806279
103	Point	Missense	c.911G>A	304	276	p.Gly304Glu	d5A1	Exon 6	NA	7	NA	NA	Homozygous		Mild	bleeding after invasive procedures	Delev et al 2009
104	Point	Missense	c.911G>A	304	276	p.Gly304Glu	d5A1	Exon 6	NA	44	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
106	Point	Missense	c.996A>C	332	304	p.Lys332Asn	NA	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550
105	Point	Missense	c.996A>C	332	304	p.Lys332Asn	NA	Exon 6	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550
108	Point	Missense	c.1000A>G	334	306	p.Arg334Gly	d5A2	Exon 7	NA	NA	NA	NA	Heterozygous		NA	NA	Chan et al 1998
109	Point	Missense	c.1000A>G	334	306	p.Arg334Gly	d5A2	Exon 7	NA	NA	NA	NA	Heterozygous		NA	one non-thrombotic case (of 40) from survey	Chan et al 1998
107	Point	Missense	c.1000A>G	334	306	p.Arg334Gly	d5A2	Exon 7	NA	NA	NA	NA	Heterozygous		NA	first of two thrombotic cases and one non-thrombotic case from survey	Chan et al 1998
111	Point	Missense	c.1001G>C	334	306	p.Arg334Thr	d5A2	Exon 7	NA	94-134	NA	NA	Heterozygous		Asymptomatic	NA	Williamson et al 1998
110	Point	Missense	c.1001G>C	334	306	p.Arg334Thr	d5A2	Exon 7	NA	94-134	NA	NA	Heterozygous		Asymptomatic	47 years old; spontaneous proximal DVT	Williamson et al 1998
113	Point	Nonsense	c.1012A>T	338	310	p.Lys338*	d5A2	Exon 7	NA	62	NA	69	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
114	Point	Nonsense	c.1012A>T	338	310	p.Lys338*	d5A2	Exon 7	NA	60	NA	64	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
112	Point	Nonsense	c.1012A>T	338	310	p.Lys338*	d5A2	Exon 7	NA	34	NA	51	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
776	Point	Missense	c.1021C>T	341	313	p.Arg341Cys	d5A2	Exon 7	NA	13	NA	18	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
115	Point	Missense	c.1021C>T	341	313	p.Arg341Cys	d5A2	Exon 7	NA	13	NA	18	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
117	Point	Missense	c.1033C>T	345	317	p.Arg345Trp	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874622
116	Point	Missense	c.1033C>T	345	317	p.Arg345Trp	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874622
119	Point	Missense	c.1034G>A	345	317	p.Arg345Gln	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293632
120	Point	Missense	c.1034G>A	345	317	p.Arg345Gln	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293632
118	Point	Missense	c.1034G>A	345	317	p.Arg345Gln	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293632
596	Deletion	Frameshift	c.1042_1049del	348	320	p.Lys348Glyfs*32	d5A2	Exon 7	NA	0	NA	<3	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	soft tissue bleeds of the mouth, epistaxis	van Wijk et al 2001A
121	Deletion	Frameshift	c.1042_1049del	348	320	p.Lys348Glyfs*32	d5A2	Exon 7	NA	<1	NA	<3	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat	van Wijk et al 2001A
123	Point	Missense	c.1059C>G	353	325	p.Phe353Leu	d5A2	Exon 7	NA	52	NA	58	Heterozygous		Asymptomatic	NA	Cai et al 2007
124	Point	Missense	c.1059C>G	353	325	p.Phe353Leu	d5A2	Exon 7	NA	45	NA	42	Heterozygous		Asymptomatic	NA	Cai et al 2007
644	Point	Missense	c.1059C>G	353	325	p.Phe353Leu	d5A2	Exon 7	NA	4	NA	4	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007
122	Point	Missense	c.1059C>G	353	325	p.Phe353Leu	d5A2	Exon 7	NA	4	NA	4	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007
125	Point	Missense	c.1064C>T	355	327	p.Ala355Val	d5A2	Exon 7	NA	50	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
127	Point	Missense	c.1106C>T	369	341	p.Ala369Val	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293631
128	Point	Missense	c.1106C>T	369	341	p.Ala369Val	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293631
129	Point	Missense	c.1106C>T	369	341	p.Ala369Val	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293631
126	Point	Missense	c.1106C>T	369	341	p.Ala369Val	d5A2	Exon 7	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293631
770	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	44	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
131	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	35	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr)	Al-Numair et al 2019
771	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	35	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
132	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	32	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	bleeding after invasive procedure, epistaxis, anaemia; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
772	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	32	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	bleeding after procedure, spontaneous epistaxis, anaemia; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
133	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	35	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild bleeding, mild epistaxis and bruising; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
773	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	35	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild bleeding symptoms, mild epistaxis; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
130	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7	NA	44	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
134	Point	Intronic	c.1118+1278	NA	NA	NA	Intron	Intron 7	NA	6	NA	6	Heterozygous	c.776G>A (p.Gly259Glu)	Mild	NA	Cutler et al 2010
92	Point	Intronic	c.1118+1278	NA	NA	NA	Intron	Intron 7	NA	6	NA	6	Heterozygous	c.776G>A (p.Gly259Glu)	Mild	NA	Cutler et al 2010
135	Point	Intronic	c.1119-12C>G	NA	NA	NA	Intron	Intron 7	NA	NA	NA	NA	NA		NA	NA	Peyvandi et al 2002
559	Point	Missense	c.1128G>T	376	348	p.Arg376Ser	d5A2	Exon 8	NA	33	NA	NA	Heterozygous	c.5009T>G (p.Leu1670Arg)	Asymptomatic	NA	Delev et al 2009
136	Point	Missense	c.1128G>T	376	348	p.Arg376Ser	d5A2	Exon 8	NA	33	NA	NA	Heterozygous	c.5009T>G (p.Leu1670Arg)	Asymptomatic	NA	Delev et al 2009
487	Deletion	Frameshift	c.1135_1136delCA	379	351	p.His379Phefs*3	d5A2	Exon 8	NA	30	NA	30	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
137	Deletion	Frameshift	c.1135_1136delCA	379	351	p.His379Phefs*3	d5A2	Exon 8	NA	30	NA	30	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants	Paraboschi et al 2020
140	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8	NA	104	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
54	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8	NA	35	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
138	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8	NA	39	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	NA	Mumford et al 2003
139	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8	NA	35	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
53	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8	NA	39	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis of femoral vein and inferior vena cava: recurrent thrombosis even with warfarin treatment; APC resistance	Mumford et al 2003
141	Point	Missense	c.1181T>C	394	366	p.Val394Ala	d5A2	Exon 8	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1084788
143	Point	Missense	c.1238T>C	413	385	p.Met413Thr	d5A2	Exon 8	NA	NA	NA	NA	Not reported		NA	NA	Chegeni et al 2007
142	Point	Missense	c.1238T>C	413	385	p.Met413Thr	d5A2	Exon 8	NA	NA	NA	NA	Both		NA	NA	de Visser et al 2000
144	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	2	NA	3	Homozygous		Moderate	gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring fresh-frozen plasma treatment	Chen et al 2005
148	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	63	NA	72	Heterozygous		Asymptomatic	NA	Chen et al 2005
145	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	43	NA	45	Heterozygous		Asymptomatic	NA	Chen et al 2005
146	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	76	NA	87	Heterozygous		Asymptomatic	NA	Chen et al 2005
147	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	72	NA	85	Heterozygous		Asymptomatic	NA	Chen et al 2005
152	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	53	NA	36	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
149	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	0	NA	1	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	prolonged bleeding after opthalmological surgery requiring fresh frozen plasma treatment	Fu Q et al 2003
153	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	36	NA	30	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
150	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	70	NA	40	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
535	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	<1	NA	1	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	opthalmological surgery requiring transfusions of fresh frozen plasma	Fu Q et al 2003
151	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8	NA	49	NA	26	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
154	Point	Missense	c.1265T>C	422	394	p.Ile422Thr	d5A2	Exon 8	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1176519
155	Point	Silent	c.1281C>G	427	399	p.Val427Val	d5A2	Exon 8	NA	<1	NA	<1	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle bleeds induced by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
68	Point	Silent	c.1281C>G	427	399	p.Val427Val	d5A2	Exon 8	NA	0	NA	<1	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle caused by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
156	Point	Intronic	c.1296+6T>C	NA	NA	NA	Intron	Intron 8	NA	5	NA	6	Homozygous		Moderate	epistaxis	Dall'osso et al 2008
157	Point	Intronic	c.1296+268A>G	NA	NA	NA	Intron	Intron 8	NA	<1	NA	<2	Homozygous		Severe	limb hematomas at birth and bleeding after umbilical cord resection; intracranial haemorrhage	Castoldi et al 2011
158	Point	Intronic	c.1296+268A>G	NA	NA	NA	Intron	Intron 8	NA	37	NA	43	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castoldi et al 2011
159	Point	Intronic	c.1296+268A>G	NA	NA	NA	Intron	Intron 8	NA	65	NA	68	Heterozygous		Asymptomatic	NA	Castoldi et al 2011
483	Point	Intronic	c.1296+268A>G	NA	NA	NA	Intron	Intron 8	NA	37	NA	43	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castoldi et al 2011
161	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8	NA	2	NA	7	Homozygous		Moderate	haemorrhage after appendectomy; intracerebral haemorrhage	Fu QH et al 2004
165	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8	NA	68	NA	50	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
162	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8	NA	68	NA	47	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
163	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8	NA	55	NA	38	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
164	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8	NA	66	NA	48	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
160	Deletion	Frameshift	Delexon9-10	NA	NA	NA	NA	Exon 9	NA	<5	NA	NA	Heterozygous		Asymptomatic	NA	Nuzzo et al 2015B
167	Point	Missense	c.1300G>A	434	406	p.Val434Met	d5A2	Exon 9	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293630
166	Point	Missense	c.1300G>A	434	406	p.Val434Met	d5A2	Exon 9	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293630
777	Point	Missense	c.1309A>G	437	409	p.Asn437Asp	d5A2	Exon 9	NA	28	NA	31	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
168	Point	Missense	c.1309A>G	437	409	p.Asn437Asp	d5A2	Exon 9	NA	28	NA	31	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
169	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
172	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	67	NA	74	Heterozygous		Asymptomatic	NA	Jin et al 2009
170	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	68	NA	68	Heterozygous		Asymptomatic	NA	Jin et al 2009
171	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	6	NA	33	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009
93	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	6	NA	33	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009
173	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	2	NA	<1	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
663	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9	NA	2	NA	<1	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
175	Point	Missense	c.1334T>C	445	417	p.Ile445Thr	d5A2	Exon 9	NA	46	NA	50	Heterozygous		Asymptomatic	NA	Kling et al 2006
527	Point	Missense	c.1334T>C	445	417	p.Ile445Thr	d5A2	Exon 9	NA	<5	NA	5	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	bleeding following abdominal surgery and tooth removal	Kling et al 2006
174	Point	Missense	c.1334T>C	445	417	p.Ile445Thr	d5A2	Exon 9	NA	<5	NA	5	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	extreme bleeding after surgery and tooth extractions	Kling et al 2006
176	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9	NA	1.8	NA	NA	Homozygous		Moderate	bruising, haematoma requiring fresh-frozen plasma	Borhany et al 2019
177	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9	NA	0	NA	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	melaena, haemarthrosis	Borhany et al 2019
392	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9	NA	<1	NA	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	melaena, haemarthrosis	Borhany et al 2019
562	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9	NA	<1	NA	NA	Heterozygous	c.5052_5053insTTTC (p.Thr1685Phefs*4)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
178	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9	NA	0	NA	NA	Heterozygous	c.5052_5053insTTTC (p.Thr1685Phefs*4)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
180	Point	Missense	c.1391C>T	464	436	p.Thr464Ile	d5A2	Exon 9	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293629
181	Point	Missense	c.1391C>T	464	436	p.Thr464Ile	d5A2	Exon 9	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293629
179	Point	Missense	c.1391C>T	464	436	p.Thr464Ile	d5A2	Exon 9	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293629
182	Point	Missense	c.1411A>T	471	443	p.Met471Leu	d5A2	Exon 10	NA	100	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015
184	Point	Nonsense	c.1426C>T	476	448	p.Gln476*	d5A2	Exon 10	NA	30	NA	NA	Heterozygous		Asymptomatic	haematuria	Delev et al 2009
220	Point	Nonsense	c.1426C>T	476	448	p.Gln476*	d5A2	Exon 10	NA	67	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
183	Point	Nonsense	c.1426C>T	476	448	p.Gln476*	d5A2	Exon 10	NA	67	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
185	Point	Missense	c.1465G>C	489	461	p.Glu489Gln	d5A2	Exon 10	NA	95	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015
561	Point	Missense	c.1498T>G	500	472	p.Cys500Gly	d5A2	Exon 10	NA	<1	NA	3	Heterozygous	c.5037dupA (p.Ser1680Ilefs*8)	Severe	bleeding of soft tissues of the mouth; severe epistaxis, hematomas, melaena, menorrhagia and hemarthroses	Montefusco et al 2003
186	Point	Missense	c.1498T>G	500	472	p.Cys500Gly	d5A2	Exon 10	NA	0	NA	3	Heterozygous	c.5037dupA (p.Ser1680Ilefs*8)	Severe	severe bleeding episodes after dental extraction and minor trauma	Montefusco et al 2003
188	Deletion	Inframe	c.1516_1518delTAC	506	478	p.Tyr506del	d5A2	Exon 10	NA	68	NA	NA	Heterozygous		Asymptomatic	NA	Jones et al 2007
373	Deletion	Inframe	c.1516_1518delTAC	506	478	p.Tyr506del	d5A2	Exon 10	NA	2	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Moderate	NA	Jones et al 2007
187	Deletion	Inframe	c.1516_1518delTAC	506	478	p.Tyr506del	d5A2	Exon 10	NA	2	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Moderate	Severe bleeding	Jones et al 2007
191	Point	Missense	c.1538G>A	513	485	p.Arg513Lys	d5A2	Exon 10	NA	normal	NA	NA	Both		Asymptomatic	NA	Gandrille et al 1995
189	Point	Missense	c.1538G>A	513	485	p.Arg513Lys	d5A2	Exon 10	NA	normal	NA	NA	Both		Asymptomatic	NA	Hiyoshi et al 1998
190	Point	Missense	c.1538G>A	513	485	p.Arg513Lys	d5A2	Exon 10	NA	NA	NA	NA	Both		NA	NA	Le et al 2000
192	Point	Missense	c.1546G>T	516	488	p.Ala516Ser	d5A2	Exon 10	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874517
194	Point	Missense	c.1561G>A	521	493	p.Gly521Arg	d5A2	Exon 10	NA	35	NA	33	Heterozygous		Asymptomatic	NA	Kovacs et al 2009
193	Point	Missense	c.1561G>A	521	493	p.Gly521Arg	d5A2	Exon 10	NA	32	NA	38	Heterozygous		Asymptomatic	extreme bleeding after surgeries including tonsillectomy at age 9; severe vaginal bleeding during first delivery	Kovacs et al 2009
195	Point	Missense	c.1562G>A	521	493	p.Gly521Glu	d5A2	Exon 10	NA	84	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015
196	Deletion	Frameshift	c.1599delG	533	505	p.Arg533Serfs*41	d5A2	Exon 10	NA	<1	NA	6	Homozygous		Severe	several intracranial haemorrhages, oral bleeding with tooth loss	Schrijver et al 2005
197	Deletion	Frameshift	c.1599delG	533	505	p.Arg533Serfs*41	d5A2	Exon 10	NA	55	NA	40	Heterozygous		Asymptomatic	NA	Schrijver et al 2005
198	Deletion	Frameshift	c.1599delG	533	505	p.Arg533Serfs*41	d5A2	Exon 10	NA	55	NA	37	Heterozygous		Asymptomatic	NA	Schrijver et al 2005
553	Deletion	Frameshift	c.1600delC	534	506	p.Arg534Lysfs*40	d5A2	Exon 10	NA	<1	NA	2	Heterozygous	c.4934delG (p.Gly1645Valfs*19)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
202	Deletion	Frameshift	c.1600delC	534	506	p.Arg534Lysfs*40	d5A2	Exon 10	NA	<1	NA	2	Heterozygous	c.4934delG (p.Gly1645Valfs*19)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
200	Point	Nonsense	c.1600C>T	534	506	p.Arg534*	d5A2	Exon 10	NA	29	NA	NA	Heterozygous		Asymptomatic	also has F8 c.6506G>A = FVIII p.(Arg2169His) (mild haemophilia A)	Suzuki et al 2018
201	Point	Nonsense	c.1600C>T	534	506	p.Arg534*	d5A2	Exon 10	NA	50	NA	NA	Heterozygous		Asymptomatic	also has F8 c.6506G>A = FVIII p.(Arg2169His)	Suzuki et al 2018
199	Point	Nonsense	c.1600C>T	534	506	p.Arg534*	d5A2	Exon 10	NA	38	NA	NA	Heterozygous		Asymptomatic	also has F8 mutations	Suzuki et al 2018
203	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	91	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
204	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	121	NA	NA	Homozygous		Asymptomatic	Thrombotic episodes	Castoldi et al 2004
206	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	<1	NA	<1	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
434	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	<1	NA	<1	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
205	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	<1	NA	<1	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
435	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	<1	NA	<1	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
728	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	39	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
207	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	65	NA	53	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
729	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	47	NA	46	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
208	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	39	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
727	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	65	NA	53	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
209	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	47	NA	46	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
210	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	41	NA	46	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
571	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	41	NA	46	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
481	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	47	NA	53	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
214	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	48	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castaman et al 1997
211	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	47	NA	53	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
478	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	52	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
212	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	52	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
480	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	48	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
213	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	98	NA	96	Heterozygous		Asymptomatic	DVT aged 55	Castaman et al 1997
445	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	42	NA	54	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
215	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	42	NA	54	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
216	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	50	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
583	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	50	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
217	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	50	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
591	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	50	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
780	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	40	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
659	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	48	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	in cis rescue from APC resistance; superficial thrombosis	Dargaud et al 2003
218	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	40	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
219	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	48	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	NA	Dargaud et al 2003
183	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	67	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
220	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	67	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
221	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	72	NA	73	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	Previous thrombotic episodes	Guasch et al 1997
631	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	72	NA	73	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	history of thrombosis	Guasch et al 1997
296	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	52	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
222	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	52	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
223	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	110	NA	NA	Heterozygous		Asymptomatic	one thrombophlebitic episode	Lunghi et al 1998
224	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	55	NA	54	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
547	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	57	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	phlebitis	Lunghi et al 2005B
225	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	57	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
548	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	20	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
226	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	20	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
546	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	55	NA	54	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
606	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	72	NA	37	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	72	NA	37	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
607	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	54	NA	30	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
229	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	54	NA	30	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
608	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	76	NA	52	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
230	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	76	NA	52	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
605	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	65	NA	43	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
227	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	65	NA	43	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
231	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	61	NA	51	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
235	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	51	NA	46	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
232	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	56	NA	59	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
446	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	60	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
676	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	51	NA	46	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
594	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	44	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
233	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	50	NA	60	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
734	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	61	NA	51	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
234	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	45	NA	44	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
769	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	56	NA	59	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
236	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	55	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden: thrombophilia	Zehnder et al 1999A see erratum & Mo
528	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	55	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden; thrombotic episodes	Zehnder et al 1999A see erratum & Mo
237	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	100	NA	NA	Heterozygous		Asymptomatic	NA	Zehnder et al 1999A see erratum & Mo
238	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10	NA	NA	NA	NA	Both		NA	first reports of prothrombotic F5 Leiden variant	Bertina et al 1994
509	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10	NA	0	NA	8	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream	Schrijver et al 2002B
239	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10	NA	0	NA	8	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage	Schrijver et al 2002B
240	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10	NA	25	NA	48	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
241	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10	NA	26	NA	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
242	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10	NA	29	NA	30	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
243	Point	Missense	c.1619C>T	540	512	p.Ala540Val*	d5A2	Exon 10	NA	NA	NA	NA	NA		NA	NA	Pezeshkpoor et al 2016
245	Point	Missense	c.1624A>G	542	514	p.Ile542Val	d5A2	Exon 10	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293626
244	Point	Missense	c.1624A>G	542	514	p.Ile542Val	d5A2	Exon 10	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293626
246	Point	Missense	c.1631A>G	544	516	p.Gln544Arg	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	Abdi et al 2017
247	Point	Nonsense	c.1633C>T	545	517	p.Gln545*	d5A2	Exon 11	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
248	Point	Missense	c.1640T>C	547	519	p.Val547Ala	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 391573
249	Point	Missense	c.1652T>C	551	523	p.Phe551Ser	d5A2	Exon 11	NA	18	NA	44	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
251	Point	Missense	c.1654G>C	552	524	p.Asp552His	d5A2	Exon 11	NA	0	NA	6	Homozygous		Severe	epistaxis in childhood; excessive bleeding after tooth extraction	Duckers et al 2010
250	Point	Missense	c.1654G>C	552	524	p.Asp552His	d5A2	Exon 11	NA	0	NA	2	Homozygous		Severe	epistaxis and gum bleeding age 5; severe bleeding postpartum	Duckers et al 2010
252	Point	Missense	c.1667G>A	556	528	p.Ser556Asn	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	Maharaj et al 2021
253	Point	Missense	c.1671G>C	557	529	p.Trp557Cys	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627013
254	Point	Missense	c.1673A>C	558	530	p.Tyr558Ser	d5A2	Exon 11	NA	0	NA	<1	Not reported		Severe	NA	Xie et al 2001
255	Point	Missense	c.1673A>C	558	530	p.Tyr558Ser	d5A2	Exon 11	NA	1	NA	2	Heterozygous	c.5420-1G>T (NA)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
256	Point	Missense	c.1673A>C	558	530	p.Tyr558Ser	d5A2	Exon 11	NA	NA	NA	NA	Heterozygous		NA	NA	Zheng et al 2006; see also PMID 2066
632	Point	Missense	c.1673A>C	558	530	p.Tyr558Ser	d5A2	Exon 11	NA	1	NA	2	Heterozygous	c.5420-1G>T (NA)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
257	Point	Nonsense	c.1674C>A	558	530	p.Tyr558*	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 666966
258	Duplication	Frameshift	c.1830_1831dup	611	583	p.His611fs	d5A2	Exon 11	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627264
263	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12	NA	39	NA	38	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
260	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12	NA	NA	NA	66	Heterozygous		NA	NA	van Wijk et al 2001A
261	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12	NA	52	NA	65	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
262	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12	NA	59	NA	68	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
259	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12	NA	55	NA	59	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
265	Duplication	Frameshift	c.1852dupC	618	590	p.Gln618Profs*3	d5A2	Exon 12	NA	65	NA	NA	Heterozygous		Asymptomatic	NA	Yamakage et al 2006
266	Duplication	Frameshift	c.1852dupC	618	590	p.Gln618Profs*3	d5A2	Exon 12	NA	65	NA	NA	Heterozygous		Asymptomatic	NA	Yamakage et al 2006
597	Duplication	Frameshift	c.1852dupC	618	590	p.Gln618Profs*3	d5A2	Exon 12	NA	<3	NA	<1	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent epistaxis, joint haematoma	Yamakage et al 2006
264	Duplication	Frameshift	c.1852dupC	618	590	p.Gln618Profs*3	d5A2	Exon 12	NA	<3	NA	<1	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent epistaxis	Yamakage et al 2006
267	Point	Missense	c.1867A>G	623	595	p.Thr623Ala	d5A2	Exon 12	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 691480
269	Point	Missense	c.1883G>A	628	600	p.Gly628Glu	d5A2	Exon 12	NA	0	NA	NA	Homozygous		Severe	post-trauma subdural hemorrhage, three episodes of severe hemarthrosis; bleeding from rectum; treated with fresh-frozen plasma	Paraboschi et al 2020
268	Point	Missense	c.1883G>A	628	600	p.Gly628Glu	d5A2	Exon 12	NA	2	NA	<1	Homozygous		Moderate	subdural hemorrhage, post injury bleeding treated with fresh-frozen plasma	Paraboschi et al 2020
270	Point	Missense	c.1973T>C	658	630	p.Val658Ala	d5A2	Exon 12	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1308782
274	Point	Intronic	c.1975+1G	NA	NA	NA	Intron	Intron 12	NA	NA	NA	NA	NA		NA	NA	Peyvandi et al 2002
273	Deletion	Truncation	c.delexon13	NA	NA	NA	NA	Exon 13	NA	NA	NA	NA	NA		NA	NA	Zimowski et al 2021
485	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12	NA	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	NA	NA	Guella et al 2011
271	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.3980A>G (p.His1327Arg)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
272	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12	NA	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	NA	NA	Guella et al 2011
484	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.3980A>G (p.His1327Arg)	Moderate	NA	Guella et al 2011
2	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.3980A>G (p.His1327Arg)	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
275	Point	Missense	c.1975G>A	659	631	p.Gly659Arg	d5A2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627029
276	Point	Missense	c.1990A>G	664	636	p.Thr664Ala	d5A2	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
277	Duplication	Nonsense	c.1999_2002dupAATT	668	640	p.Ser668*	d5A2	Exon 13	NA	37	NA	NA	Heterozygous		Asymptomatic	heavy menstruation and heavy bleeding after tonsillectomy	Moret et al 2019
278	Point	Missense	c.2032A>G	678	650	p.Lys678Glu	d5A2	Exon 13	NA	50	NA	36	Heterozygous		Asymptomatic	age 76	Kanaji et al 2009
279	Point	Missense	c.2037C>G	679	651	p.Phe679Leu	d5A2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875334
281	Point	Missense	c.2042A>G	681	653	p.Asp681Gly	d5A2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293623
280	Point	Missense	c.2042A>G	681	653	p.Asp681Gly	d5A2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293623
282	Point	Missense	c.2051G>A	684	656	p.Cys684Tyr	d5a2	Exon 13	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
284	Point	Missense	c.2082G>C	694	666	p.Glu694Asp	d5a2	Exon 13	NA	206	NA	NA	Heterozygous		Asymptomatic	NA	Cai et al 2010
285	Point	Missense	c.2082G>C	694	666	p.Glu694Asp	d5a2	Exon 13	NA	135	NA	NA	Heterozygous		Asymptomatic	NA	Cai et al 2010
286	Point	Missense	c.2082G>C	694	666	p.Glu694Asp	d5a2	Exon 13	NA	143	NA	NA	Heterozygous		Asymptomatic	NA	Cai et al 2010
283	Point	Missense	c.2082G>C	694	666	p.Glu694Asp	d5a2	Exon 13	NA	NA	NA	NA	Heterozygous		NA	vein thrombosis and pulmonary embolism	Cai et al 2010
287	Point	Missense	c.2105C>T	702	674	p.Thr702Ile	d5a2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 783954
288	Point	Missense	c.2127G>A	709	681	p.Met709Ile	d5a2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 161460
289	Point	Missense	c.2129A>G	710	682	p.His710Arg	d5a2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716055
290	Point	Missense	c.2135G>A	712	684	p.Arg712His	d5a2	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806275
292	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13	NA	54	NA	56	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
759	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13	NA	0	NA	2	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	recurrent epistaxis, easy bruising and gum bleeding; GI bleeding requiring fresh frozen plasma infusion	Fu QH et al 2004
291	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13	NA	<1	NA	2	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	bruising and gum bleeding; GI bleeding requiring fresh frozen plasma	Fu QH et al 2004
761	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13	NA	0	NA	2	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	NA	Zhou et al 2005
293	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13	NA	<1	NA	2	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	NA	Zhou et al 2005
294	Point	Silent	c.2208C>T	736	708	p.Ile736Ile	d5a2	Exon 13	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000
302	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
295	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	1	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia	Coppola et al 2010
442	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	1	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia; haemoperitoneum	Coppola et al 2010
296	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	52	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
297	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	44	NA	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 1998
222	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	52	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
298	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	<1	NA	5	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
299	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	61	NA	85	Heterozygous		Asymptomatic	mild menorrhagia	Montefusco et al 2003
300	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	60	NA	88	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
649	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	0	NA	5	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	easy bruising and epistaxis	Montefusco et al 2003
301	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	2	NA	2	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
730	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13	NA	2	NA	2	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
304	Point	Missense	c.2222A>G	741	713	p.Asn741Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293621
305	Point	Missense	c.2222A>G	741	713	p.Asn741Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293621
306	Point	Missense	c.2222A>G	741	713	p.Asn741Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293621
303	Point	Missense	c.2222A>G	741	713	p.Asn741Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293621
307	Point	Missense	c.2223C>A	741	713	p.Asn741Lys	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1176518
308	Point	Missense	c.2232G>C	744	716	p.Leu744Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
309	Point	Missense	c.2232G>C	744	716	p.Leu744Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098463
310	Point	Missense	c.2234A>G	745	717	p.Asn745Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
311	Point	Missense	c.2234A>G	745	717	p.Asn745Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098462
312	Point	Silent	c.2235T>C	745	717	p.Asn745Asn	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000
313	Point	Missense	c.2257C>A	753	725	p.Leu753Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1312444
314	Point	Silent	c.2289A>G	763	735	p.Glu763Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000
315	Point	Silent	c.2301A>G	767	739	p.Ser767Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000
316	Point	Missense	c.2339C>T	780	752	p.Pro780Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806274
317	Point	Missense	c.2345A>C	782	754	p.Asn782Thr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1313877
318	Point	Missense	c.2350A>G	784	756	p.Ser784Gly	d5B	Exon 13	NA	111	NA	NA	Heterozygous		Asymptomatic	bruising, epistaxis, significant bleeding after trauma	Kuang et al 2001
319	Point	Missense	c.2350A>G	784	756	p.Ser784Gly	d5B	Exon 13	NA	100	NA	NA	Heterozygous		Asymptomatic	bruising, epistaxis, bleeding from gums, and significant bleeding after minor trauma; causative splice variant short FV	Vincent et al 2013
320	Point	Missense	c.2383C>G	795	767	p.Gln795Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 727136
322	Deletion	Frameshift	c.2390_2390delC	798	770	p.Pro798Leufs*13	d5B	Exon 13	NA	59	NA	62	NA		Asymptomatic	NA	Deng et al 2021
323	Deletion	Frameshift	c.2390_2390delC	798	770	p.Pro798Leufs*13	d5B	Exon 13	NA	58	NA	60	NA		Asymptomatic	NA	Deng et al 2021
321	Deletion	Frameshift	c.2390_2390delC	798	770	p.Pro798Leufs*13	d5B	Exon 13	NA	24	NA	28	NA		Asymptomatic	NA	Deng et al 2021
324	Point	Nonsense	c.2401C>T	801	773	p.Gln801*	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	age 15	van Wijk et al 2001A
325	Point	Nonsense	c.2401C>T	801	773	p.Gln801*	d5B	Exon 13	NA	1	NA	3	Homozygous		Moderate	bleeding after dental work, nosebleeds, haematomas of the skin after minor trauma	Vellinga et al 2006
326	Point	Nonsense	c.2404C>T	802	774	p.Gln802*	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
331	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255198
328	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255198
329	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255198
330	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255198
327	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255198
332	Deletion	Frameshift	c.2426delC	809	781	p.Pro809Hisfs*2	d5B	Exon 13	NA	7	NA	NA	Heterozygous	c.286G>C (p.Asp96His)	Mild	NA	Park et al 2019
27	Deletion	Frameshift	c.2426delC	809	781	p.Pro809Hisfs*2	d5B	Exon 13	NA	7	NA	NA	Heterozygous	c.286G>C (p.Asp96His)	Mild	avascular necrosis of femoral heads needing surgery (FFP prophylaxis)	Park et al 2019
333	Point	Missense	c.2434C>T	812	784	p.His812Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806273
334	Point	Missense	c.2450A>C	817	789	p.Asn817Thr	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000
400	Deletion	Frameshift	c.2539delA	847	819	p.Ile847Tyrfs*24	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.3170_3174delACACA (p.Asp1057Ilefs*7)	NA	NA	Delev et al 2009
335	Deletion	Frameshift	c.2539delA	847	819	p.Ile847Tyrfs*24	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.3170_3174delACACA (p.Asp1057Ilefs*7)	NA	NA	Delev et al 2009
336	Point	Missense	c.2573A>G	858	830	p.Lys858Arg	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000
337	Point	Missense	c.2573A>G	858	830	p.Lys858Arg	d5B	Exon 13	NA	NA	NA	NA	Both		NA	NA	Smith et al 2007
339	Deletion	Frameshift	c.2574_2575delAA	860	832	p.Gln860Argfs*4	d5B	Exon 13	NA	NA	NA	2	Homozygous		NA	NA	Asselta et al 2006
338	Deletion	Frameshift	c.2574_2575delAA	860	832	p.Gln860Argfs*4	d5B	Exon 13	NA	NA	NA	2	Homozygous		NA	gum, nose, and joint bleeds	Asselta et al 2006
341	Point	Missense	c.2588C>G	863	835	p.Ala863Gly	d5B	Exon 13	NA	99	NA	NA	Heterozygous		Asymptomatic	prolonged bleeding of the umbilical stump, easy bruising	Cunha et al 2015
340	Point	Missense	c.2588C>G	863	835	p.Ala863Gly	d5B	Exon 13	NA	122	NA	NA	Heterozygous		Asymptomatic	bleeding after minor trauma, surgical procedures and childbirth	Cunha et al 2015
342	Point	Missense	c.2594A>G	865	837	p.His865Arg	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000
343	Deletion	Frameshift	c.2615delG	872	844	p.Arg872Lysfs*12	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	epistaxis	Al-Numair et al 2019
344	Point	Missense	c.2669T>C	890	862	p.Val890Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806272
345	Deletion	Frameshift	c.2743_2744delAC	915	887	p.Thr915Trpfs*14	d5B	Exon 13	NA	<1	NA	<1	Homozygous		Severe	age 2, severe GI bleeding, epistaxis	Montefusco et al 2000A
346	Deletion	Frameshift	c.2743_2744delAC	915	887	p.Thr915Trpfs*14	d5B	Exon 13	NA	64	NA	85	Heterozygous		Asymptomatic	NA	Montefusco et al 2000A
347	Point	Missense	c.2744C>G	915	887	p.Thr915Ser	d5B	Exon 13	NA	NA	NA	NA	Both		NA	NA	Smith et al 2007
348	Point	Missense	c.2752C>T	918	890	p.Pro918Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1136361
349	Point	Nonsense	c.2772G>A	924	896	p.Trp924*	d5B	Exon 13	NA	36	NA	22	Heterozygous		Asymptomatic	NA	Cutler et al 2010
350	Point	Missense	c.2773A>G	925	897	p.Lys925Glu	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000
351	Point	Missense	c.2806C>G	936	908	p.Gln936Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1148226
352	Point	Missense	c.2837G>T	946	918	p.Arg946Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
353	Point	Missense	c.2837G>T	946	918	p.Arg946Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098460
354	Point	Nonsense	c.2841G>A	947	919	p.Trp947*	d5B	Exon 13	NA	7	NA	<1	Homozygous		Mild	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
359	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	35	NA	41	NA		Asymptomatic	NA	Su et al 2021
356	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	35	NA	42	NA		Asymptomatic	NA	Su et al 2021
357	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	37	NA	46	NA		Asymptomatic	NA	Su et al 2021
358	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	29	NA	35	NA		Asymptomatic	NA	Su et al 2021
355	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	13	NA	17	NA		Asymptomatic	NA	Su et al 2021
359	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	35	NA	41	NA		Asymptomatic	NA	Su et al 2021
356	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	35	NA	42	NA		Asymptomatic	NA	Su et al 2021
357	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	37	NA	46	NA		Asymptomatic	NA	Su et al 2021
358	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	29	NA	35	NA		Asymptomatic	NA	Su et al 2021
355	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13	NA	13	NA	17	NA		Asymptomatic	NA	Su et al 2021
361	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	postsurgical bleeding after removal of haemorrhagic cyst	Borhany et al 2019
362	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	menorrhagia, gum bleeding, joint pain	Borhany et al 2019
363	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	postsurgical bleeding after circumcision and bleeding after trauma; knee pain	Borhany et al 2019
364	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	3	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
365	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	13	NA	<1	Homozygous		Asymptomatic	umbilical and intracranial hemorrhages (requiring blood transfusion) at birth	Paraboschi et al 2020
366	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	3	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
367	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	5	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
368	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	<1	NA	1	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising and severe hematoma after intramuscular injections	Ajzner et al 2002
369	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	59	NA	62	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
626	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	<1	NA	1	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising	Ajzner et al 2002
370	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	55	NA	32	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
372	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	50	NA	NA	Heterozygous		Asymptomatic	haematoma; epistaxis	Delev et al 2009
670	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	10	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009
371	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	10	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009
373	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	2	NA	NA	Heterozygous	c.1516_1518delTAC (p.Tyr506del)	Moderate	NA	Jones et al 2007
374	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	50	NA	NA	Heterozygous		Asymptomatic	NA	Jones et al 2007
187	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	2	NA	NA	Heterozygous	c.1516_1518delTAC (p.Tyr506del)	Moderate	Severe bleeding	Jones et al 2007
375	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	45	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
376	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13	NA	47	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
378	Point	Missense	c.2864G>T	955	927	p.Ser955Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293618
379	Point	Missense	c.2864G>T	955	927	p.Ser955Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293618
377	Point	Missense	c.2864G>T	955	927	p.Ser955Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293618
381	Point	Missense	c.2906A>G	969	941	p.Asn969Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293616
382	Point	Missense	c.2906A>G	969	941	p.Asn969Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293616
380	Point	Missense	c.2906A>G	969	941	p.Asn969Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293616
383	Point	Missense	c.2923C>T	975	947	p.Pro975Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1314611
385	Point	Missense	c.2938C>T	980	952	p.Arg980Cys	d5B	Exon 13	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
419	Point	Missense	c.2938C>T	980	952	p.Arg980Cys	d5B	Exon 13	NA	low	NA	low	Homozygous	c.3409C>T (p.Gln1137*)	NA	NA	Huang et al 2010
384	Point	Missense	c.2938C>T	980	952	p.Arg980Cys	d5B	Exon 13	NA	low	NA	low	Homozygous	c.3409C>T (p.Gln1137*)	NA	NA	Huang et al 2010
386	Point	Missense	c.2939G>T	980	952	p.Arg980Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 731270
388	Point	Nonsense	c.3037C>T	1013	985	p.Gln1013*	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	extracranial haematoma at birth; bleeding from minor injuries	Chapla et al 2011
387	Point	Nonsense	c.3037C>T	1013	985	p.Gln1013*	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	bleeding after tooth extraction, easily bruised	Chapla et al 2011
389	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	1	NA	NA	Homozygous		Moderate	severe bleeding, haematoma	Delev et al 2009
390	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	2	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
391	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	<1	Homozygous		Severe	subcutaneous and mucosal bleeding, severe menorrhagia	Schrijver et al 2005
392	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
177	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	0	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
393	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.6048+1G>A (NA)	Severe	intracranial bleeding and severe hypertension	Dall'osso et al 2008
714	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.6048+1G>A (NA)	Severe	intracranial bleeding with severe hypertension	Dall'osso et al 2008
711	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	repeated traumatic hemorrhages requiring fresh-frozen plasma	Montefusco et al 2003
394	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	posttraumatic large frontal hematoma ; repeated traumatic hemorrhages requiring fresh-frozen plasma; severe menorrhagia requiring plasma and red blood cell transfusion	Montefusco et al 2003
395	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13	NA	37	NA	46	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
396	Point	Missense	c.3089G>A	1030	1002	p.Arg1030Gln	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874312
397	Deletion	Frameshift	c.3105_3106delGA	1036	1008	p.Lys1036Alafs*18	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	umbilical stump bleeding, prolonged post-traumatic bleeding	Chapla et al 2011
398	Insertion	Frameshift	c.3153_3154insCT	1052	1024	p.Arg1052Leufs*44	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
399	Point	Missense	c.3162A>C	1054	1026	p.Glu1054Asp	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716054
400	Deletion	Frameshift	c.3170_3174delACACA	1057	1029	p.Asp1057Ilefs*7	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.2539delA (p.Ile847Tyrfs*24)	NA	NA	Delev et al 2009
335	Deletion	Frameshift	c.3170_3174delACACA	1057	1029	p.Asp1057Ilefs*7	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.2539delA (p.Ile847Tyrfs*24)	NA	NA	Delev et al 2009
401	Duplication	Frameshift	c.3187dupA	1063	1035	p.Arg1063fs	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56159
403	Point	MIssense	c.3211C>T	1071	1043	p.His1071Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293614
402	Point	MIssense	c.3211C>T	1071	1043	p.His1071Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293614
405	Point	Missense	c.3221A>G	1074	1046	p.Asn1074Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870845
404	Point	Missense	c.3221A>G	1074	1046	p.Asn1074Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870845
406	Point	Missense	c.3269A>G	1090	1062	p.Asp1090Gly	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875183
408	Point	Nonsense	c.3279G>A	1093	1065	p.Trp1093*	d5B	Exon 13	NA	<1	NA	NA	NA		Severe	NA	Bernal et al 2021
407	Point	Nonsense	c.3279G>A	1093	1065	p.Trp1093*	d5B	Exon 13	NA	21	NA	NA	NA		Asymptomatic	NA	Bernal et al 2021
410	Deletion	Frameshift	c.3296delA	1099	1071	p.Asp1099Alafs*72	d5B	Exon 13	NA	NA	NA	3	Homozygous		NA	haematomas	Asselta et al 2006
409	Deletion	Frameshift	c.3296delA	1099	1071	p.Asp1099Alafs*72	d5B	Exon 13	NA	NA	NA	3	Homozygous		NA	gum and nose bleeds	Asselta et al 2006
411	Deletion	Frameshift	c.3296delA	1099	1071	p.Asp1099Alafs*72	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
413	Point	Missense	c.3307A>T	1103	1075	p.Asn1103Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293611
412	Point	Missense	c.3307A>T	1103	1075	p.Asn1103Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293611
415	Point	Missense	c.3311C>A	1104	1076	p.Ser1104Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293610
414	Point	Missense	c.3311C>A	1104	1076	p.Ser1104Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293610
417	Point	Missense	c.3402C>A	1134	1106	p.Asp1134Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293609
418	Point	Missense	c.3402C>A	1134	1106	p.Asp1134Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293609
416	Point	Missense	c.3402C>A	1134	1106	p.Asp1134Glu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293609
419	Point	Nonsense	c.3409C>T	1137	1109	p.Gln1137*	d5B	Exon 13	NA	low	NA	low	Homozygous	c.2938C>T (p.Arg980Cys)	NA	NA	Huang et al 2010
384	Point	Nonsense	c.3409C>T	1137	1109	p.Gln1137*	d5B	Exon 13	NA	low	NA	low	Homozygous	c.2938C>T (p.Arg980Cys)	NA	NA	Huang et al 2010
421	Point	Missense	c.3438C>G	1146	1118	p.His1146Gln	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293608
422	Point	Missense	c.3438C>G	1146	1118	p.His1146Gln	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293608
420	Point	Missense	c.3438C>G	1146	1118	p.His1146Gln	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293608
424	Point	Missense	c.3442T>C	1148	1120	p.Ser1148Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293607
425	Point	Missense	c.3442T>C	1148	1120	p.Ser1148Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293607
423	Point	Missense	c.3442T>C	1148	1120	p.Ser1148Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293607
426	Point	Missense	c.3446C>T	1149	1121	p.Ser1149Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1091728
428	Point	Missense	c.3455A>C	1152	1124	p.Glu1152Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293606
429	Point	Missense	c.3455A>C	1152	1124	p.Glu1152Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293606
427	Point	Missense	c.3455A>C	1152	1124	p.Glu1152Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293606
430	Deletion	Frameshift	c.3472_3475delGAGT	1158	1130	p.Glu1158Metfs*12	d5B	Exon 13	NA	<1	NA	9	Homozygous		Severe	deep-tissue haemorrhage with neck hematomas needing surgical intervention	Schrijver et al 2005
441	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
431	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	1	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
432	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	1	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
433	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
206	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
434	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
435	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
205	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
437	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	50	NA	45	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
469	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
436	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
710	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	4	NA	3	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
438	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	4	NA	3	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
439	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	5	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
708	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	5	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
440	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13	NA	45	NA	25	Heterozygous		Asymptomatic	NA	Song et al 2009
442	Deletion	Frameshift	c.3510_3511delAA	1170	1142	p.Ile1170Metfs*10	d5B	Exon 13	NA	1	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	recurrent epistaxis; menorrhagia; haemoperitoneum	Coppola et al 2010
443	Deletion	Frameshift	c.3510_3511delAA	1170	1142	p.Ile1170Metfs*10	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Coppola et al 2010
295	Deletion	Frameshift	c.3510_3511delAA	1170	1142	p.Ile1170Metfs*10	d5B	Exon 13	NA	1	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	recurrent epistaxis; menorrhagia	Coppola et al 2010
444	Deletion	Nonsense	c.3576delG	1193	1165	p.Val1193*	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
445	Duplication	Frameshift	c.3615_3616dupTC	1206	1178	p.Pro1206Leufs*47	d5B	Exon 13	NA	42	NA	54	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
215	Duplication	Frameshift	c.3615_3616dupTC	1206	1178	p.Pro1206Leufs*47	d5B	Exon 13	NA	42	NA	54	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
233	Duplication	Frameshift	c.3615_3616dupTC	1206	1178	p.Pro1206Leufs*47	d5B	Exon 13	NA	50	NA	60	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
446	Duplication	Frameshift	c.3615_3616dupTC	1206	1178	p.Pro1206Leufs*47	d5B	Exon 13	NA	50	NA	60	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
447	Deletion	Frameshift	c.3642_3643delTC	1215	1187	p.Pro1215Argfs*175	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	rectal bleeding	Borhany et al 2019
448	Deletion	Frameshift	c.3653_3656delTTCA	1218	1190	p.Ile1218Argfs*33	d5B	Exon 13	NA	<1	NA	NA	Homozygous		Severe	fresh frozen plasma needed after circumcision	Borhany et al 2019
449	Point	Missense	c.3674C>A	1225	1197	p.Ala1225Asp	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
450	Point	Missense	c.3674C>A	1225	1197	p.Ala1225Asp	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098458
451	Point	Missense	c.3691A>C	1231	1203	p.Ile1231Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875127
453	Point	Missense	c.3776C>A	1259	1231	p.Ser1259Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 714099
452	Point	Missense	c.3776C>A	1259	1231	p.Ser1259Tyr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 714099
454	Deletion	Frameshift	c.3799delC	1267	1239	p.Leu1267Phefs*21	d5B	Exon 13	NA	NA	NA	<1	Homozygous		NA	gum and nose bleeds	Asselta et al 2006
455	Point	Missense	c.3845A>G	1282	1254	p.His1282Arg	d5B	Exon 13	NA	NA	NA	NA	Heterozygous		NA	NA	Jadaon et al 2006
457	Point	Missense	c.3851C>T	1284	1256	p.Thr1284Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293603
458	Point	Missense	c.3851C>T	1284	1256	p.Thr1284Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293603
456	Point	Missense	c.3851C>T	1284	1256	p.Thr1284Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293603
463	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255205
460	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255205
461	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255205
462	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255205
459	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255205
464	Point	Missense	c.3865T>C	1289	1261	p.Phe1289Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874153
465	Deletion	Frameshift	c.3899delA	1300	1272	p.His1300Leufs*2	d5B	Exon 13	NA	1.2	NA	NA	Homozygous		Moderate	gum bleeding after teeth fall, fresh frozen plasma needed after trauma	Borhany et al 2019
466	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13	NA	<2	NA	<1	Homozygous		Asymptomatic	severe bleeding from a cut lip; easy bruising	Guasch et al 1998
467	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13	NA	61	NA	NA	Heterozygous		Asymptomatic	NA	Guasch et al 1998
468	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13	NA	48	NA	NA	Heterozygous		Asymptomatic	Excessive bleeding after childbirth	Guasch et al 1998
469	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.3481C>T (p.Arg1161*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
436	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13	NA	<1	NA	<1	Heterozygous	c.3481C>T (p.Arg1161*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
471	Point	Missense	c.3949G>A	1317	1289	p.Gly1317Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293602
472	Point	Missense	c.3949G>A	1317	1289	p.Gly1317Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293602
470	Point	Missense	c.3949G>A	1317	1289	p.Gly1317Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293602
473	Point	Missense	c.3952C>A	1318	1290	p.Gln1318Lys	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875953
474	Point	Missense	c.3961A>C	1321	1293	p.Ile1321Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875952
493	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	NA	NA	NA	Not Reported		NA	NA	Le et al 2000
475	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	77	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
476	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	80	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
572	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	29	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
477	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	29	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
212	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	45	NA	52	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
479	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	55	NA	58	Heterozygous		Asymptomatic	NA	Castaman et al 1997
214	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	50	NA	48	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Castaman et al 1997
480	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	50	NA	48	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
211	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	47	NA	53	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
481	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	47	NA	53	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
478	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	45	NA	52	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
482	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	36	NA	43	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT and PE	Castoldi et al 2000A
584	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	36	NA	43	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT & PE	Castoldi et al 2000A
483	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	37	NA	43	Heterozygous	c.1296+268A>G (NA)	Asymptomatic	NA	Castoldi et al 2011
158	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	37	NA	43	Heterozygous	c.1296+268A>G (NA)	Asymptomatic	NA	Castoldi et al 2011
271	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.1975+5G>A (NA)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
484	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.1975+5G>A (NA)	Moderate	NA	Guella et al 2011
272	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.1975+5G>A (NA)	NA	NA	Guella et al 2011
2	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	1	NA	NA	Heterozygous	delexon1-7 (NA) AND c.1975+5G>A (NA)	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
485	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	NA	NA	NA	Heterozygous	c.1975+5G>A (NA)	NA	NA	Guella et al 2011
489	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	36	NA	27	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
137	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	30	NA	30	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants	Paraboschi et al 2020
486	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	66	NA	65	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
490	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	65	NA	60	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
487	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	30	NA	30	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
491	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	65	NA	40	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
526	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	45	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
488	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	45	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
492	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	NA	NA	NA	Both		NA	NA	de Visser et al 2000
494	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13	NA	NA	NA	NA	Both		NA	NA	Lunghi et al 1996
495	Point	Missense	c.3995T>C	1332	1304	p.Leu1332Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
496	Point	Missense	c.3995T>C	1332	1304	p.Leu1332Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098457
497	Point	Missense	c.4000T>C	1334	1306	p.Phe1334Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875030
498	Point	Missense	c.4013A>C	1338	1310	p.Asn1338Thr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874096
499	Point	Missense	c.4082C>T	1361	1333	p.Pro1361Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874095
500	Deletion	Frameshift	c.4096delC	1366	1338	p.Leu1366Phefs*3	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Mohan et al 2020
501	Point	Missense	c.4145C>A	1382	1354	p.Thr1382Lys	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1084141
502	Point	Missense	c.4172T>C	1391	1363	p.Met1391Thr	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875897
504	Point	Missense	c.4189C>T	1397	1369	p.Leu1397Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293600
505	Point	Missense	c.4189C>T	1397	1369	p.Leu1397Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293600
503	Point	Missense	c.4189C>T	1397	1369	p.Leu1397Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293600
506	Deletion	Frameshift	c.4204delC	1403	1375	p.Thr1403Profs*7	d5B	Exon 13	NA	<1	NA	<3	Homozygous		Severe	bleeding treated with fresh frozen plasma; bleeds in mouth	van Wijk et al 2001A
507	Deletion	Frameshift	c.4204delC	1403	1375	p.Thr1403Profs*7	d5B	Exon 13	NA	57	NA	56	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
508	Deletion	Frameshift	c.4204delC	1403	1375	p.Thr1403Profs*7	d5B	Exon 13	NA	52	NA	47	Heterozygous		Asymptomatic	NA	van Wijk et al 2001A
509	Point	Missense	c.4210C>T	1404	1376	p.Pro1404Ser	d5B	Exon 13	NA	0	NA	8	Homozygous	c.1611G>T (p.Gln537His)	Severe	umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream	Schrijver et al 2002B
239	Point	Missense	c.4210C>T	1404	1376	p.Pro1404Ser	d5B	Exon 13	NA	0	NA	8	Homozygous	c.1611G>T (p.Gln537His)	Severe	umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage	Schrijver et al 2002B
510	Point	Missense	c.4297C>T	1433	1405	p.Leu1433Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
511	Point	Missense	c.4297C>T	1433	1405	p.Leu1433Phe	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098456
513	Point	Missense	c.4309A>T	1437	1409	p.Thr1437Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293598
514	Point	Missense	c.4309A>T	1437	1409	p.Thr1437Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293598
512	Point	Missense	c.4309A>T	1437	1409	p.Thr1437Ser	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293598
516	Point	Missense	c.4333A>G	1445	1417	p.Thr1445Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293597
515	Point	Missense	c.4333A>G	1445	1417	p.Thr1445Ala	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293597
517	Point	Missense	c.4346C>T	1449	1421	p.Pro1449Leu	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1138027
518	Point	Missense	c.4356C>A	1452	1424	p.Ser1452Arg	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293596
519	Point	Nonsense	c.4357C>T	1453	1425	p.Gln1453*	d5B	Exon 13	NA	1	NA	NA	Homozygous		Moderate	bleeding after invasive procedures; epistaxis	Delev et al 2009
520	Point	Missense	c.4405T>C	1469	1441	p.Ser1469Pro	d5B	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293595
522	Point	Missense	c.4589A>C	1530	1502	p.Glu1530Ala	d5a3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 787578
523	Point	Missense	c.4589A>C	1530	1502	p.Glu1530Ala	d5a3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 787578
521	Point	Missense	c.4589A>C	1530	1502	p.Glu1530Ala	d5a3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 787578
524	Point	Missense	c.4633C>A	1545	1517	p.Pro1545Thr	d5a3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 653984
525	Point	Missense	c.4634C>T	1545	1517	p.Pro1545Leu	d5a3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870844
526	Point	Nonsense	c.4650C>G	1550	1522	p.Tyr1550*	NA	Exon 13	NA	45	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
488	Point	Nonsense	c.4650C>G	1550	1522	p.Tyr1550*	NA	Exon 13	NA	45	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
527	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13	NA	<5	NA	5	Heterozygous	c.1334T>C (p.Ile445Thr)	Asymptomatic	bleeding following abdominal surgery and tooth removal	Kling et al 2006
174	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13	NA	<5	NA	5	Heterozygous	c.1334T>C (p.Ile445Thr)	Asymptomatic	extreme bleeding after surgery and tooth extractions	Kling et al 2006
529	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13	NA	44	NA	NA	Heterozygous		Asymptomatic	NA	Zehnder et al 1999A see erratum & Mo
236	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13	NA	55	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden: thrombophilia	Zehnder et al 1999A see erratum & Mo
528	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13	NA	55	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; thrombotic episodes	Zehnder et al 1999A see erratum & Mo
530	Point	Missense	c.4744T>A	1582	1554	p.Tyr1582Asn	dA3	Exon 13	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627318
531	Point	Missense	c.4745A>G	1582	1554	p.Tyr1582Cys	dA3	Exon 13	NA	48	NA	NA	Heterozygous		Asymptomatic	NA	Moret et al 2019
692	Deletion	Inframe	c.4746_4748delTTA	1583	1555	p.Tyr1583del	NA	Exon 13	NA	10	NA	NA	Heterozygous	c.5900T>A (p.Met1967Lys)	Mild	NA	Delev et al 2009
532	Deletion	Inframe	c.4746_4748delTTA	1583	1555	p.Tyr1583del	NA	Exon 13	NA	10	NA	NA	Heterozygous	c.5900T>A (p.Met1967Lys)	Mild	NA	Delev et al 2009
534	Point	Nonsense	NA	1598	1570	p.Gln1598*	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	Brodard et al 2020
533	Point	Nonsense	NA	1598	1570	p.Gln1598*	d5A3	Exon 14	NA	<5	NA	NA	NA		Asymptomatic	NA	Brodard et al 2020
535	Deletion	Frameshift	c.4798delG	1600	1572	p.Glu1600Lysfs*19	d5A3	Exon 14	NA	<1	NA	1	Heterozygous	c.1258G>T (p.Gly420Cys)	Severe	opthalmological surgery requiring transfusions of fresh frozen plasma	Fu Q et al 2003
536	Deletion	Frameshift	c.4798delG	1600	1572	p.Glu1600Lysfs*19	d5A3	Exon 14	NA	62	NA	45	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
149	Deletion	Frameshift	c.4798delG	1600	1572	p.Glu1600Lysfs*19	d5A3	Exon 14	NA	0	NA	1	Heterozygous	c.1258G>T (p.Gly420Cys)	Severe	prolonged bleeding after opthalmological surgery requiring fresh frozen plasma treatment	Fu Q et al 2003
538	Point	Missense	c.4835A>T	1612	1584	p.Asp1612Val	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293594
537	Point	Missense	c.4835A>T	1612	1584	p.Asp1612Val	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293594
539	Point	Missense	c.4862G>A	1621	1593	p.Arg1621Gln	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627078
540	Point	Missense	c.4867T>G	1623	1595	p.Tyr1623Asp	d5A3	Exon 14	NA	0	NA	4	Heterozygous	c.763T>C (p.Trp255Arg)	Severe	very mild epistaxis and gum bleeding; occasional menses	Duckers et al 2010
90	Point	Missense	c.4867T>G	1623	1595	p.Tyr1623Asp	d5A3	Exon 14	NA	0	NA	4	Heterozygous	c.763T>C (p.Trp255Arg)	Severe	very mild epistaxis and gum bleeding	Duckers et al 2010
542	Point	Nonsense	c.4900C>T	1634	1606	p.Arg1634*	d5A3	Exon 14	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
541	Point	Nonsense	c.4900C>T	1634	1606	p.Arg1634*	d5A3	Exon 14	NA	37	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
543	Point	Nonsense	c.4900C>T	1634	1606	p.Arg1634*	d5A3	Exon 14	NA	<1	NA	<1	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
592	Point	Nonsense	c.4900C>T	1634	1606	p.Arg1634*	d5A3	Exon 14	NA	0	NA	<1	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003
545	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	44	NA	83	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
549	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	NA	NA	NA	Heterozygous		NA	recurrent superficial thrombophlebitis	Lunghi et al 2005B
225	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	57	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
546	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	55	NA	54	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
550	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	40	NA	36	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
226	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	20	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
547	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	57	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	phlebitis	Lunghi et al 2005B
551	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	38	NA	50	Heterozygous		Asymptomatic	spontaneous haematoma and metrorrhagia	Lunghi et al 2005B
544	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	39	NA	44	Heterozygous		Asymptomatic	epistaxis and haematoma frequently occur	Lunghi et al 2005B
548	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	20	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
224	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	55	NA	54	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
552	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14	NA	50	NA	70	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
553	Deletion	Frameshift	c.4934delG	1645	1617	p.Gly1645Valfs*19	d5A3	Exon 14	NA	<1	NA	2	Heterozygous	c.1600delC (p.Arg534Lysfs*40)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
202	Deletion	Frameshift	c.4934delG	1645	1617	p.Gly1645Valfs*19	d5A3	Exon 14	NA	<1	NA	2	Heterozygous	c.1600delC (p.Arg534Lysfs*40)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
554	Point	Missense	c.4937C>G	1646	1618	p.Pro1646Arg	d5A3	Exon 14	NA	<3	NA	<2	Homozygous		Asymptomatic	consanguineous parents; age 55	Kanaji et al 2009
555	Point	Missense	c.4949C>T	1650	1622	p.Ala1650Val	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1013261
556	Point	Missense	c.4959T>A	1653	1625	p.Asp1653Glu	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293593
557	Point	Missense	c.4976G>C	1659	1631	p.Arg1659Pro	d5A3	Exon 15	NA	41	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010
558	Point	Missense	c.5005T>C	1669	1641	p.Ser1669Pro	d5A3	Exon 15	NA	0	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
559	Point	Missense	c.5009T>G	1670	1642	p.Leu1670Arg	d5A3	Exon 15	NA	33	NA	NA	Heterozygous	c.1128G>T (p.Arg376Ser)	Asymptomatic	NA	Delev et al 2009
136	Point	Missense	c.5009T>G	1670	1642	p.Leu1670Arg	d5A3	Exon 15	NA	33	NA	NA	Heterozygous	c.1128G>T (p.Arg376Ser)	Asymptomatic	NA	Delev et al 2009
560	Deletion	Frameshift	c.5022delA	1674	1646	p.Gly1674Glyfs	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
561	Duplication	Frameshift	c.5037dupA	1680	1652	p.Ser1680Ilefs*8	d5A3	Exon 15	NA	<1	NA	3	Heterozygous	c.1498T>G (p.Cys500Gly)	Severe	bleeding of soft tissues of the mouth; severe epistaxis, hematomas, melaena, menorrhagia and hemarthroses	Montefusco et al 2003
186	Duplication	Frameshift	c.5037dupA	1680	1652	p.Ser1680Ilefs*8	d5A3	Exon 15	NA	0	NA	3	Heterozygous	c.1498T>G (p.Cys500Gly)	Severe	severe bleeding episodes after dental extraction and minor trauma	Montefusco et al 2003
562	Insertion	Frameshift	c.5052_5053insTTTC	1685	1657	p.Thr1685Phefs*4	d5A3	Exon 15	NA	<1	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
178	Insertion	Frameshift	c.5052_5053insTTTC	1685	1657	p.Thr1685Phefs*4	d5A3	Exon 15	NA	0	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
567	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293590
564	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293590
565	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293590
566	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293590
563	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293590
683	Point	Missense	c.5090A>G	1697	1669	p.Asp1697Gly	d5A3	Exon 15	NA	5	NA	NA	Heterozygous	c.5789-12_5789-11delinsAA (NA)	Moderate	NA	Paraboschi et al 2019
568	Point	Missense	c.5090A>G	1697	1669	p.Asp1697Gly	d5A3	Exon 15	NA	5	NA	NA	Heterozygous	c.5789-12_5789-11delinsAA (NA)	Moderate	tooth extractions done under prophylactic treatment, but bleeding still occurred; two pregnancies (no complications)	Paraboschi et al 2019
569	Deletion	Frameshift	c.5093delA	1698	1670	p.Asn1698Metfs*37	d5A3	Exon 15	NA	58	NA	45	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
570	Point	Missense	c.5144G>A	1715	1687	p.Arg1715Gln	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874864
572	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	29	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
210	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	41	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
477	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	29	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
571	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	41	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
573	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	3	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
574	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	6	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
716	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	6	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
89	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15	NA	3	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
576	Point	Missense	c.5177G>A	1726	1698	p.Arg1726Gln	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209
575	Point	Missense	c.5177G>A	1726	1698	p.Arg1726Gln	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209
578	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	1	NA	NA	Homozygous		Moderate	recurrent epistaxis; serious hemorrhage post dental extraction	Castoldi et al 2001
577	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	1	NA	NA	Homozygous		Moderate	NA	Castoldi et al 2001
579	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	1	Homozygous		Severe	NA	Montefusco et al 2003
580	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	<1	Homozygous		Severe	hernia with hemmorhages	Paraboschi et al 2020
581	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	2	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
582	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	<2	NA	NA	Homozygous		Asymptomatic	bleeding after trauma or surgery	Talbot et al 2010
585	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	60	NA	60	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
216	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	50	NA	50	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
482	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	36	NA	43	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT and PE	Castoldi et al 2000A
586	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	55	NA	50	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
583	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	50	NA	50	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
587	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	64	NA	56	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
584	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	36	NA	43	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT & PE	Castoldi et al 2000A
588	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	40	NA	45	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
589	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	NA	Heterozygous		Severe	gum bleeding from age 3; post-traumatic hemarthrosis age 8, recurrent menorrhagia age 15	Castoldi et al 2001
217	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	50	NA	50	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
590	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	30	NA	NA	Heterozygous		Asymptomatic	bleeding after tonsillectinomy	Castoldi et al 2001
591	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	50	NA	50	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
592	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	<1	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003
593	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	58	NA	63	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
543	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	<1	NA	<1	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
594	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	45	NA	44	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
234	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	45	NA	44	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
595	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	50	NA	50	Heterozygous		Asymptomatic	NA	Talbot et al 2010
596	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	0	NA	<3	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis	van Wijk et al 2001A
121	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	<1	NA	<3	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat	van Wijk et al 2001A
264	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	<3	NA	<1	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis	Yamakage et al 2006
597	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15	NA	<3	NA	<1	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis, joint haematoma	Yamakage et al 2006
598	Point	Missense	c.5215G>T	1739	1711	p.Asp1739Tyr	d5A3	Exon 16	NA	0	NA	<1	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
599	Point	Missense	c.5219T>G	1740	1712	p.Ile1740Ser	d5A3	Exon 15	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1315402
600	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16	NA	3	NA	7	Homozygous		Moderate	recurrent gingival bleeding	Liu et al 2020
604	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16	NA	52	NA	49	Heterozygous		Asymptomatic	NA	Liu et al 2020
601	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16	NA	60	NA	62	Heterozygous		Asymptomatic	NA	Liu et al 2020
602	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16	NA	47	NA	51	Heterozygous		Asymptomatic	NA	Liu et al 2020
603	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16	NA	45	NA	52	Heterozygous		Asymptomatic	NA	Liu et al 2020
605	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	65	NA	43	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	72	NA	37	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
606	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	72	NA	37	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
229	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	54	NA	30	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
607	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	54	NA	30	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
230	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	76	NA	52	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
608	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	76	NA	52	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
227	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16	NA	65	NA	43	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
610	Point	Missense	c.5245C>G	1749	1721	p.Leu1749Val	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 713561
611	Point	Missense	c.5245C>G	1749	1721	p.Leu1749Val	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 713561
612	Point	Missense	c.5245C>G	1749	1721	p.Leu1749Val	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 713561
609	Point	Missense	c.5245C>G	1749	1721	p.Leu1749Val	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 713561
617	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 579171
614	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 579171
615	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 579171
616	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 579171
613	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 579171
618	Point	Missense	c.5290A>G	1764	1736	p.Met1764Val	d5A3	Exon 16	NA	NA	NA	NA	Not reported		NA	NA	Chegeni et al 2007
620	Point	Missense	c.5308G>A	1770	1742	p.Val1770Ile	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293587
619	Point	Missense	c.5308G>A	1770	1742	p.Val1770Ile	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293587
621	Point	Missense	c.5318T>A	1773	1745	p.Phe1773Tyr	d5A3	Exon 16	NA	30	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
623	Point	Missense	c.5332G>C	1778	1750	p.Glu1778Gln	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293586
622	Point	Missense	c.5332G>C	1778	1750	p.Glu1778Gln	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293586
624	Point	Nonsense	c.5365C>T	1789	1761	p.Arg1789*	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627332
625	Point	Missense	c.5392G>A	1798	1770	p.Glu1798Lys	d5A3	Exon 16	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56160
626	Insertion	Frameshift	c.5403_5404insG	1802	1774	p.Ser1802Valfs*3	d5A3	Exon 16	NA	<1	NA	1	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Severe	subdural hematoma at birth; easy bruising	Ajzner et al 2002
627	Insertion	Frameshift	c.5403_5404insG	1802	1774	p.Ser1802Valfs*3	d5A3	Exon 16	NA	47	NA	33	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
368	Insertion	Frameshift	c.5403_5404insG	1802	1774	p.Ser1802Valfs*3	d5A3	Exon 16	NA	<1	NA	1	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Severe	subdural hematoma at birth; easy bruising and severe hematoma after intramuscular injections	Ajzner et al 2002
629	Point	Missense	c.5408A>G	1803	1775	p.His1803Arg	d5A3	Exon 16	NA	0	NA	NA	Heterozygous	c.6257C>A (p.Ser2086*)	Severe	NA	Cutler et al 2010
654	Point	Missense	c.5408A>G	1803	1775	p.His1803Arg	d5A3	Exon 16	NA	3	NA	5	Heterozygous	c.5546T>C (p.Leu1849Ser)	Moderate	NA	Cutler et al 2010
736	Point	Missense	c.5408A>G	1803	1775	p.His1803Arg	d5A3	Exon 16	NA	<1	NA	NA	Heterozygous	c.6257C>A (p.Ser2086*)	Severe	NA	Cutler et al 2010
628	Point	Missense	c.5408A>G	1803	1775	p.His1803Arg	d5A3	Exon 16	NA	3	NA	5	Heterozygous	c.5546T>C (p.Leu1849Ser)	Moderate	NA	Cutler et al 2010
630	Point	Missense	c.5419G>A	1807	1779	p.Ala1807Thr	d5A3	Exon 16	NA	30	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
631	Point	Missense	c.5419G>A	1807	1779	p.Ala1807Thr	d5A3	Exon 16	NA	72	NA	73	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	history of thrombosis	Guasch et al 1997
221	Point	Missense	c.5419G>A	1807	1779	p.Ala1807Thr	d5A3	Exon 16	NA	72	NA	73	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	Previous thrombotic episodes	Guasch et al 1997
632	Point	Intronic	c.5420-1G>T	NA	NA	NA	Intron	Intron 16	NA	1	NA	2	Heterozygous	c.1673A>C (p.Tyr558Ser)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
633	Point	Intronic	c.5420-1G>T	NA	NA	NA	Intron	Intron 16	NA	NA	NA	NA	Heterozygous		NA	NA	Zheng et al 2006; see also PMID 2066
255	Point	Intronic	c.5420-1G>T	NA	NA	NA	Intron	Intron 16	NA	1	NA	2	Heterozygous	c.1673A>C (p.Tyr558Ser)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
634	Point	Missense	c.5431A>T	1811	1783	p.Met1811Leu	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873864
635	Point	Missense	c.5446C>T	1816	1788	p.Pro1816Ser	d5A3	Exon 17	NA	47	NA	NA	Heterozygous		Asymptomatic	Na	Delev et al 2009
637	Point	Missense	c.5460G>A	1820	1792	p.Met1820Ile	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293583
638	Point	Missense	c.5460G>A	1820	1792	p.Met1820Ile	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293583
636	Point	Missense	c.5460G>A	1820	1792	p.Met1820Ile	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293583
639	Point	Nonsense	c.5474G>A	1825	1797	p.Trp1825*	d5A3	Exon 17	NA	NA	NA	70	Heterozygous		NA	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
641	Point	Missense	c.5492T>C	1831	1803	p.Leu1831Pro	d5A3	Exon 17	NA	47	NA	NA	Heterozygous		Asymptomatic	menorrhagia	Wang et al 2018
642	Point	Missense	c.5492T>C	1831	1803	p.Leu1831Pro	d5A3	Exon 17	NA	53	NA	NA	Heterozygous		Asymptomatic	menorrhagia	Wang et al 2018
643	Point	Missense	c.5492T>C	1831	1803	p.Leu1831Pro	d5A3	Exon 17	NA	42	NA	NA	Heterozygous		Asymptomatic	gingival bleeding	Wang et al 2018
640	Point	Missense	c.5492T>C	1831	1803	p.Leu1831Pro	d5A3	Exon 17	NA	41	NA	NA	Heterozygous		Asymptomatic	haematuria requiring frozen-fresh plasma transfusion; lower VWF activity	Wang et al 2018
644	Duplication	Frameshift	c.5520_5526dup	1843	1815	p.His1843Argfs*15	d5A3	Exon 17	NA	4	NA	4	Heterozygous	c.1059C>G (p.Phe353Leu)	Moderate	NA	Cai et al 2007
645	Duplication	Frameshift	c.5520_5526dup	1843	1815	p.His1843Argfs*15	d5A3	Exon 17	NA	43	NA	41	Heterozygous		Asymptomatic	NA	Cai et al 2007
646	Duplication	Frameshift	c.5520_5526dup	1843	1815	p.His1843Argfs*15	d5A3	Exon 17	NA	36	NA	26	Heterozygous		Asymptomatic	NA	Cai et al 2007
122	Duplication	Frameshift	c.5520_5526dup	1843	1815	p.His1843Argfs*15	d5A3	Exon 17	NA	4	NA	4	Heterozygous	c.1059C>G (p.Phe353Leu)	Moderate	NA	Cai et al 2007
647	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	0	NA	4	Homozygous		Severe	haemarthroses; dorsal muscle bleeding	Shinozawa et al 2007
648	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	35	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
649	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	0	NA	5	Heterozygous	c.2218C>T (p.Arg740*)	Severe	easy bruising and epistaxis	Montefusco et al 2003
298	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	<1	NA	5	Heterozygous	c.2218C>T (p.Arg740*)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
650	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	0	NA	9	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
651	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	69	NA	62	Heterozygous		Asymptomatic	NA	Shinozawa et al 2007
717	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17	NA	<1	NA	9	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
653	Point	Missense	c.5534A>G	1845	1817	p.His1845Arg	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293581
652	Point	Missense	c.5534A>G	1845	1817	p.His1845Arg	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293581
654	Point	Missense	c.5546T>C	1849	1821	p.Leu1849Ser	d5A3	Exon 17	NA	3	NA	5	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
655	Point	Missense	c.5546T>C	1849	1821	p.Leu1849Ser	d5A3	Exon 17	NA	35	NA	NA	Heterozygous		Asymptomatic	Na	Cutler et al 2010
628	Point	Missense	c.5546T>C	1849	1821	p.Leu1849Ser	d5A3	Exon 17	NA	3	NA	5	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
657	Point	Missense	c.5558G>T	1853	1825	p.Gly1853Val	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293580
658	Point	Missense	c.5558G>T	1853	1825	p.Gly1853Val	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293580
656	Point	Missense	c.5558G>T	1853	1825	p.Gly1853Val	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293580
659	Deletion	Frameshift	c.5592delT	1864	1836	p.Leu1864Cysfs*10	d5A3	Exon 17	NA	50	NA	48	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	in cis rescue from APC resistance; superficial thrombosis	Dargaud et al 2003
219	Deletion	Frameshift	c.5592delT	1864	1836	p.Leu1864Cysfs*10	d5A3	Exon 17	NA	50	NA	48	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Dargaud et al 2003
660	Point	Missense	c.5594T>G	2004	1976	p.Leu1865Arg	d5C1	Exon 17	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
661	Point	Missense	c.5594T>G	2004	1976	p.Leu1865Arg	d5C1	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098454
662	Point	Missense	c.5621T>C	1874	1846	p.Met1874Thr	d5A3	Exon 17	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627095
663	Point	Nonsense	c.5630C>A	1877	1849	p.Ser1877*	d5A3	Exon 18	NA	2	NA	<1	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
173	Point	Nonsense	c.5630C>A	1877	1849	p.Ser1877*	d5A3	Exon 18	NA	2	NA	<1	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
664	Point	Missense	c.5639G>T	1880	1852	p.Gly1880Val	d5A3	Exon 18	NA	NA	NA	NA	Homozygous		NA	NA	Fu-WJ et al 2003A
665	Point	Nonsense	c.5645G>A	1882	1854	p.Trp1882*	d5A3	Exon 18	NA	31	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
666	Point	Nonsense	c.5646G>A	1882	1854	p.Trp1882*	d5A3	Exon 18	NA	2	NA	1	Homozygous		Moderate	recurrent epistaxis; bleedings from the oral cavity, postinjection hematomas	Montefusco et al 2003
667	Point	Missense	c.5668G>A	1890	1862	p.Glu1890Lys	d5A3	Exon 18	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56161
668	Point	Missense	c.5683G>C	1895	1867	p.Gly1895Arg	d5A3	Exon 18	NA	49	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
669	Point	Missense	c.5693C>T	1898	1870	p.Thr1898Met	d5A3	Exon 18	NA	26	NA	NA	Homozygous		Asymptomatic	NA	Delev et al 2009
670	Point	Missense	c.5693C>T	1898	1870	p.Thr1898Met	d5A3	Exon 18	NA	10	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Mild	haematoma; epistaxis	Delev et al 2009
371	Point	Missense	c.5693C>T	1898	1870	p.Thr1898Met	d5A3	Exon 18	NA	10	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Mild	haematoma; epistaxis	Delev et al 2009
671	Point	Intronic	c.5717-12T>A	NA	NA	NA	Intron	Intron 18	NA	<1	NA	NA	Homozygous		Severe	GI, gum, joint & muscle bleeds	Lunghi et al 2008
672	Point	Missense	c.5723G>A	1908	1880	p.Arg1908Lys	d5C1	Exon 19	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 709012
673	Point	Missense	c.5729C>T	1910	1882	p.Pro1910Leu	d5C1	Exon 19	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 876651
674	Deletion	Frameshift	c.5752delA	1918	1890	p.Ile1918Tyrfs*19	d5C1	Exon 19	NA	<1	NA	<1	Heterozygous	c.479C>G (p.Pro160Arg)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
675	Deletion	Frameshift	c.5752delA	1918	1890	p.Ile1918Tyrfs*19	d5C1	Exon 19	NA	25	NA	26	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	NA	Paraboschi et al 2012
774	Deletion	Frameshift	c.5752delA	1918	1890	p.Ile1918Tyrfs*19	d5C1	Exon 19	NA	25	NA	26	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	NA	Paraboschi et al 2012
56	Deletion	Frameshift	c.5752delA	1918	1890	p.Ile1918Tyrfs*19	d5C1	Exon 19	NA	0	NA	<1	Heterozygous	c.479C>G (p.Pro160Arg)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
676	Point	Nonsense	c.5764C>T	1922	1894	p.Gln1922*	d5C1	Exon 19	NA	51	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
235	Point	Nonsense	c.5764C>T	1922	1894	p.Gln1922*	d5C1	Exon 19	NA	51	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
677	Point	Missense	c.5765A>C	1922	1894	p.Gln1922Pro	d5C1	Exon 19	NA	3	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
678	Point	Missense	c.5780A>G	1927	1899	p.Glu1927Gly	d5C1	Exon 19	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875652
679	Point	Intronic	c.5788+3A>T	NA	NA	NA	Intron	Intron 19	NA	<1	NA	<1	Homozygous		Severe	bleeding from nose and mouth; extreme bleeding after dental extractions	Asselta et al 2003A
680	Point	Intronic	c.5788+3A>T	NA	NA	NA	Intron	Intron 19	NA	40	NA	35	Heterozygous		Asymptomatic	NA	Asselta et al 2003A
681	Point	Intronic	c.5788+3A>T	NA	NA	NA	Intron	Intron 19	NA	85	NA	90	Heterozygous		Asymptomatic	NA	Asselta et al 2003A
683	Indel	Intronic	c.5789-12_5789-11delinsAA	NA	NA	NA	Intron	Intron 19	NA	5	NA	NA	Heterozygous	c.5090A>G (p.Asp1697Gly)	Moderate	NA	Paraboschi et al 2019
568	Indel	Intronic	c.5789-12_5789-11delinsAA	NA	NA	NA	Intron	Intron 19	NA	5	NA	NA	Heterozygous	c.5090A>G (p.Asp1697Gly)	Moderate	tooth extractions done under prophylactic treatment, but bleeding still occurred; two pregnancies (no complications)	Paraboschi et al 2019
682	Point	Intronic	c.5789-5T>G	NA	NA	NA	Intron	Intron 19	NA	4	NA	NA	Homozygous		Moderate	NA	Paraboschi et al 2019
684	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	0	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
732	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	0	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
10	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	59	NA	NA	Heterozygous	c.158+1G>A (NA)	Asymptomatic	NA	Bafunno et al 2012
685	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	59	NA	NA	Heterozygous	c.158+1G>A (NA)	Asymptomatic	NA	Bafunno et al 2012
9	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	<1	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
781	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
11	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.6528G>C (p.Lys2176Asn)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
686	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
12	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	55	NA	53	Heterozygous	c.158+1G>A (NA)	Asymptomatic	antifibrinolytic treatment required following implantology surgery	Paraboschi et al 2019
687	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20	NA	55	NA	53	Heterozygous	c.158+1G>A (NA)	Asymptomatic	NA	Paraboschi et al 2019
747	Point	Nonsense	c.5807T>A	1936	1908	p.Leu1936*	d5C1	Exon 20	NA	0	NA	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
688	Point	Nonsense	c.5807T>A	1936	1908	p.Leu1936*	d5C1	Exon 20	NA	<1	NA	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
689	Point	Missense	c.5842T>C	1948	1920	p.Trp1948Arg	d5C1	Exon 20	NA	10	NA	40	Homozygous		Mild	DVT with swelling of lower body; more APC resistance compared to FV Leiden	Nogami et al 2014
690	Point	Missense	c.5842T>C	1948	1920	p.Trp1948Arg	d5C1	Exon 20	NA	74	NA	74	Heterozygous		Asymptomatic	NA	Nogami et al 2014
691	Point	Missense	c.5842T>C	1948	1920	p.Trp1948Arg	d5C1	Exon 20	NA	88	NA	75	Heterozygous		Asymptomatic	NA	Nogami et al 2014
692	Point	Missense	c.5900T>A	1967	1939	p.Met1967Lys	d5C1	Exon 21	NA	10	NA	NA	Heterozygous	c.4746_4748delTTA (p.Tyr1583del)	Mild	NA	Delev et al 2009
532	Point	Missense	c.5900T>A	1967	1939	p.Met1967Lys	d5C1	Exon 21	NA	10	NA	NA	Heterozygous	c.4746_4748delTTA (p.Tyr1583del)	Mild	NA	Delev et al 2009
693	Point	Missense	c.5923G>C	1975	1947	p.Gly1975Arg	d5C1	Exon 21	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873759
694	Point	Missense	c.5933C>T	1978	1950	p.Thr1978Ile	d5C1	Exon 21	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873758
695	Point	Missense	c.5941G>T	1981	1953	p.Ala1981Ser	d5C1	Exon 21	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1013260
696	Point	Missense	c.5959T>C	1987	1959	p.Ser1987Pro	d5C1	Exon 21	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1301605
697	Point	Missense	c.5993G>T	1998	1970	p.Ser1998Ile	d5C1	Exon 21	NA	35	NA	28	Heterozygous		Asymptomatic	haemarthrosis affecting hip and elbow	Paraboschi et al 2020
698	Point	Missense	c.6008A>G	2003	1975	p.Asn2003Ser	d5C1	Exon 21	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806267
699	Point	Missense	c.6010T>C	2004	1976	p.Trp2004Arg	d5C1	Exon 21	NA	0	NA	NA	Homozygous		Severe	severe menorrhagia and spontaneous epistaxis	Al-Numair et al 2019
700	Point	Missense	c.6010T>C	2004	1976	p.Trp2004Arg	d5C1	Exon 21	NA	46	NA	NA	Heterozygous		Asymptomatic	NA	Al-Numair et al 2019
701	Point	Missense	c.6010T>C	2004	1976	p.Trp2004Arg	d5C1	Exon 21	NA	47	NA	NA	Heterozygous		Asymptomatic	mild menorrhagia and epistaxis	Al-Numair et al 2019
704	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21	NA	50	NA	NA	Heterozygous		Asymptomatic	NA	Frotscher et al 2012
82	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21	NA	0	NA	<1	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	umbilical cord bleed at birth; spontaneous left knee haemarthrosis; subdural and extradural haematoma	Frotscher et al 2012
702	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21	NA	0	NA	<1	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	GI bleeding at age 3 weeks and other minor bleeds	Frotscher et al 2012
703	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21	NA	0	NA	<1	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	umbilical cord bleed at birth	Frotscher et al 2012
81	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21	NA	0	NA	<1	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	GI bleeding at age 3 weeks and additional minor bleeds	Frotscher et al 2012
705	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	<1	NA	<2	Homozygous		Severe	age 64, consanguineous parents	Kanaji et al 2009
707	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	39	NA	NA	Heterozygous		Asymptomatic	suspected haematoma	Park et al 2016
790	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	3	NA	NA	Heterozygous	c.6604C>T (p.Arg2202Cys)	Moderate	easy bruising	Park et al 2016
706	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	3	NA	NA	Heterozygous	c.6604C>T (p.Arg2202Cys)	Moderate	easy bruising	Park et al 2016
439	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	5	NA	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	bleeding after tooth extraction	Song et al 2009
708	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	5	NA	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	bleeding after tooth extraction	Song et al 2009
709	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	50	NA	37	Heterozygous		Asymptomatic	NA	Song et al 2009
710	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	4	NA	3	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
438	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21	NA	4	NA	3	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
711	Duplication	Frameshift	6028_6032dupAACAG	2011	1983	p.Ser2011Argfs*7	d5C1	Exon 21	NA	<1	NA	<1	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	repeated traumatic hemorrhages requiring fresh-frozen plasma	Montefusco et al 2003
712	Duplication	Frameshift	6028_6032dupAACAG	2011	1983	p.Ser2011Argfs*7	d5C1	Exon 21	NA	57	NA	67	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
713	Duplication	Frameshift	6028_6032dupAACAG	2011	1983	p.Ser2011Argfs*7	d5C1	Exon 21	NA	47	NA	60	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
394	Duplication	Frameshift	6028_6032dupAACAG	2011	1983	p.Ser2011Argfs*7	d5C1	Exon 21	NA	<1	NA	<1	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	posttraumatic large frontal hematoma ; repeated traumatic hemorrhages requiring fresh-frozen plasma; severe menorrhagia requiring plasma and red blood cell transfusion	Montefusco et al 2003
714	Point	Intronic	c.6048+1G>A	NA	NA	NA	Intron	Intron 21	NA	<1	NA	<1	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	intracranial bleeding with severe hypertension	Dall'osso et al 2008
393	Point	Intronic	c.6048+1G>A	NA	NA	NA	Intron	Intron 21	NA	<1	NA	<1	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	intracranial bleeding and severe hypertension	Dall'osso et al 2008
715	Point	Missense	c.6100C>G	2034	2006	p.Pro2034Ala	d5C1	Exon 22	NA	low	NA	low	Homozygous		NA	NA	Huang et al 2010
716	Point	Nonsense	c.6139C>T	2047	2019	p.Arg2047*	d5C1	Exon 22	NA	6	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Mild	NA	Delev et al 2009
574	Point	Nonsense	c.6139C>T	2047	2019	p.Arg2047*	d5C1	Exon 22	NA	6	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Mild	NA	Delev et al 2009
717	Deletion	Frameshift	c.6157_6161delACCCT	2053	2025	p.Thr2053Serfs*8	d5C1	Exon 22	NA	<1	NA	9	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
718	Deletion	Frameshift	c.6157_6161delACCCT	2053	2025	p.Thr2053Serfs*8	d5C1	Exon 22	NA	58	NA	57	Heterozygous		Asymptomatic	NA	Shinozawa et al 2007
650	Deletion	Frameshift	c.6157_6161delACCCT	2053	2025	p.Thr2053Serfs*8	d5C1	Exon 22	NA	0	NA	9	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
720	Point	Missense	c.6164G>A	2055	2027	p.Arg2055Gln	d5C1	Exon 22	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293576
719	Point	Missense	c.6164G>A	2055	2027	p.Arg2055Gln	d5C1	Exon 22	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293576
725	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	26	NA	20	Heterozygous		Asymptomatic	easy bruising in the lower limbs; also has heterozygous polymorphism Arg513Lys	Wang et al 2014
722	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	47	NA	31	Heterozygous		Asymptomatic	NA	Wang et al 2014
726	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	24	NA	22	Heterozygous		Asymptomatic	NA	Wang et al 2014
723	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	48	NA	38	Heterozygous		Asymptomatic	NA	Wang et al 2014
724	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	47	NA	39	Heterozygous		Asymptomatic	NA	Wang et al 2014
721	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22	NA	52	NA	37	Heterozygous		Asymptomatic	NA	Wang et al 2014
728	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	50	NA	39	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
208	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	50	NA	39	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
729	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	47	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
209	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	47	NA	46	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
727	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	65	NA	53	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
207	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22	NA	65	NA	53	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
730	Point	Missense	c.6182G>A	2061	2033	p.Cys2061Tyr	d5C1	Exon 22	NA	2	NA	2	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
301	Point	Missense	c.6182G>A	2061	2033	p.Cys2061Tyr	d5C1	Exon 22	NA	2	NA	2	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
753	Point	Missense	c.6197G>A	2066	2038	p.Cys2066Tyr	d5C2	Exon 23	NA	0	NA	3	Heterozygous	c.6305G>A (p.Arg2102His)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
731	Point	Missense	c.6197G>A	2066	2038	p.Cys2066Tyr	d5C2	Exon 23	NA	0	NA	3	Heterozygous	c.6305G>A (p.Arg2102His)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
734	Deletion	Frameshift	c.6212delG	2071	2043	p.Gly2071Valfs*7	d5C2	Exon 23	NA	61	NA	51	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
231	Deletion	Frameshift	c.6212delG	2071	2043	p.Gly2071Valfs*7	d5C2	Exon 23	NA	61	NA	51	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
684	Point	Missense	c.6212G>T	2071	2043	p.Gly2071Val	d5C2	Exon 23	NA	0	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012
732	Point	Missense	c.6212G>T	2071	2043	p.Gly2071Val	d5C2	Exon 23	NA	0	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012
733	Point	Missense	c.6212G>T	2071	2043	p.Gly2071Val	d5C2	Exon 23	NA	64	NA	NA	Heterozygous		Asymptomatic	NA	Bafunno et al 2012
9	Point	Missense	c.6212G>T	2071	2043	p.Gly2071Val	d5C2	Exon 23	NA	<1	NA	NA	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012
735	Point	Missense	c.6241C>G	2081	2053	p.Gln2081Glu	d5C2	Exon 23	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875605
736	Point	Nonsense	c.6257C>A	2086	2058	p.Ser2086*	d5C2	Exon 23	NA	<1	NA	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Severe	NA	Cutler et al 2010
629	Point	Nonsense	c.6257C>A	2086	2058	p.Ser2086*	d5C2	Exon 23	NA	0	NA	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Severe	NA	Cutler et al 2010
738	Point	Missense	c.6293C>T	2098	2070	p.Pro2098Leu	d5C2	Exon 23	NA	NA	NA	NA	Homozygous		NA	NA	Asselta et al 2003B
737	Point	Missense	c.6293C>G	2098	2070	p.Pro2098Arg	d5C2	Exon 23	NA	0	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
739	Point	Missense	c.6298C>T	2100	2072	p.Arg2100Cys	d5C2	Exon 23	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875604
740	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	5	NA	14	Homozygous		Moderate	post-traumatic intracranial bleeding	Bossone et al 2002
741	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	4	NA	2	Homozygous		Moderate	easy bruising after minor trauma	Duga et al 2003
742	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	48	NA	100	Heterozygous		Asymptomatic	NA	Duga et al 2003
743	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	54	NA	64	Heterozygous		Asymptomatic	NA	Duga et al 2003
60	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	60	NA	75	Heterozygous	c.524A>G (p.His175Arg)	Asymptomatic	NA	Liu et al 2014A
23	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
746	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
58	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
744	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	60	NA	75	Heterozygous	c.524A>G (p.His175Arg)	Asymptomatic	NA	Liu et al 2014A
59	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
22	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
745	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	2	NA	<2	Heterozygous	c.286G>C (p.Asp96His) AND c.524A>G (p.His175Arg)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
688	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	<1	NA	NA	Heterozygous	c.5807T>A (p.Leu1936*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
747	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	0	NA	NA	Heterozygous	c.5807T>A (p.Leu1936*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
748	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23	NA	44	NA	73	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
749	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	2	NA	3	Homozygous		Moderate	recurrent epistaxis in early childhood	Schrijver et al 2002A
750	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	<5	NA	6	Homozygous		Asymptomatic	age 6 hospitalized with intractable epistaxis	Schrijver et al 2002A
751	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	<5	NA	3	Homozygous		Asymptomatic	NA	Schrijver et al 2002A
752	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	3	NA	NA	Heterozygous	c.6528+1_+4delGTAG (p.Met2148Ilefs*12)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
782	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	3	NA	NA	Heterozygous	c.6528+1_+4delGTAG (p.Met2148Ilefs*12)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
753	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	0	NA	3	Heterozygous	c.6197G>A (p.Cys2066Tyr)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
731	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	0	NA	3	Heterozygous	c.6197G>A (p.Cys2066Tyr)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
754	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	NA	NA	16	Heterozygous		NA	NA	Schrijver et al 2002A
755	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23	NA	NA	NA	NA	Heterozygous		NA	NA	Schrijver et al 2002A
762	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	low	NA	low	Not reported		NA	NA	Cao et al 2008
756	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	2	NA	2	Homozygous		Moderate	severe recurrent spontaneous epistaxis requiring blood transfusion	Cao et al 2011
758	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	78	NA	62	Heterozygous		Asymptomatic	NA	Cao et al 2011
757	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	65	NA	54	Heterozygous		Asymptomatic	NA	Cao et al 2011
759	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	0	NA	2	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	recurrent epistaxis, easy bruising and gum bleeding; GI bleeding requiring fresh frozen plasma infusion	Fu QH et al 2004
760	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	54	NA	50	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
291	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	<1	NA	2	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	bruising and gum bleeding; GI bleeding requiring fresh frozen plasma	Fu QH et al 2004
293	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	<1	NA	2	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
761	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23	NA	0	NA	2	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
534	Point	Nonsense	NA	2114	2086	p.Gln1598*	d5A3	Exon 14	NA	NA	NA	NA	NA		NA	NA	Brodard et al 2020
533	Point	Nonsense	NA	2114	2086	p.Gln1598*	d5A3	Exon 14	NA	<5	NA	NA	NA		Asymptomatic	NA	Brodard et al 2020
764	Point	Missense	c.6376G>T	2126	2098	p.Asp2126Tyr	d5C2	Exon 24	NA	4	NA	NA	Homozygous		Moderate	age 65	Delev et al 2008
765	Point	Missense	c.6376G>T	2126	2098	p.Asp2126Tyr	d5C2	Exon 24	NA	3	NA	NA	Homozygous		Moderate	bleeding after invasive procedures	Delev et al 2009
766	Point	Missense	c.6401C>T	2134	2106	p.Thr2134Met	d5C2	Exon 24	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1049414
767	Point	Missense	c.6419G>A	2140	2112	p.Gly2140Asp	d5C2	Exon 24	NA	4	NA	10	Homozygous		Moderate	mild menorrhagia; postpartum haemorrhage needing fresh frozen plasma	Duckers et al 2010
768	Point	Missense	c.6419G>A	2140	2112	p.Gly2140Asp	d5C2	Exon 24	NA	60	NA	65	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
769	Point	Missense	c.6419G>A	2140	2112	p.Gly2140Asp	d5C2	Exon 24	NA	56	NA	59	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
232	Point	Missense	c.6419G>A	2140	2112	p.Gly2140Asp	d5C2	Exon 24	NA	56	NA	59	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
133	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	35	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild bleeding, mild epistaxis and bruising; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
771	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	35	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
130	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	44	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
772	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	32	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	bleeding after procedure, spontaneous epistaxis, anaemia; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
131	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	35	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr)	Al-Numair et al 2019
773	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	35	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild bleeding symptoms, mild epistaxis; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
132	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	32	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	bleeding after invasive procedure, epistaxis, anaemia; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
770	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	44	NA	NA	Heterozygous	c.1118+5G>T (NA)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
675	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	25	NA	26	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
774	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	25	NA	26	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
775	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	40	NA	32	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
168	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	28	NA	31	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
776	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	13	NA	18	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
777	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	28	NA	31	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
115	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	13	NA	18	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
778	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24	NA	NA	NA	NA	Heterozygous		NA	NA	Scanavini et al 2004
779	Point	Missense	c.6492G>C	2164	2136	p.Trp2164Cys	d5C2	Exon 24	NA	0	NA	<1	Homozygous		Severe	hymen rupture needing blood transfusion; menorrhagia, extreme gum bleeding	Paraboschi et al 2020
780	Deletion	Frameshift	c.6523delG	2175	2147	p.Asp2175Thrfs*14	d5C2	Exon 24	NA	45	NA	40	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
218	Deletion	Frameshift	c.6523delG	2175	2147	p.Asp2175Thrfs*14	d5C2	Exon 24	NA	45	NA	40	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
782	Deletion	Intronic	c.6528+1_+4delGTAG	2148	2120	p.Met2148Ilefs*12	d5C2	Intron 24	NA	3	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
752	Deletion	Intronic	c.6528+1_+4delGTAG	2148	2120	p.Met2148Ilefs*12	d5C2	Intron 24	NA	3	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
686	Point	Missense	c.6528G>C	2176	2148	p.Lys2176Asn	d5C2	Exon 24	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
781	Point	Missense	c.6528G>C	2176	2148	p.Lys2176Asn	d5C2	Exon 24	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
11	Point	Missense	c.6528G>C	2176	2148	p.Lys2176Asn	d5C2	Exon 24	NA	3	NA	2	Heterozygous	c.158+1G>A (NA) AND c.5789G>A (p.Gly1930Asp)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
783	Point	Intronic	c.6529-1G>T	NA	NA	NA	Intron	Intron 24	NA	NA	NA	NA	NA		NA	NA	Maharaj et al 2021
784	Point	Missense	c.6554A>G	2185	2157	p.Lys2185Arg	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716051
785	Point	Missense	c.6584C>T	2195	2167	p.Pro2195Leu	d5C2	Exon 25	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
787	Point	Missense	c.6589A>G	2197	2169	p.Ile2197Val	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293572
786	Point	Missense	c.6589A>G	2197	2169	p.Ile2197Val	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293572
788	Point	Missense	c.6604C>T	2202	2174	p.Arg2202Cys	d5C2	Exon 25	NA	0	NA	NA	Homozygous		Severe	severe menorrhagia and anaemia	Al-Numair et al 2019
789	Point	Missense	c.6604C>T	2202	2174	p.Arg2202Cys	d5C2	Exon 25	NA	low	NA	low	Homozygous		NA	NA	Huang et al 2010
790	Point	Missense	c.6604C>T	2202	2174	p.Arg2202Cys	d5C2	Exon 25	NA	3	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	easy bruising	Park et al 2016
706	Point	Missense	c.6604C>T	2202	2174	p.Arg2202Cys	d5C2	Exon 25	NA	3	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	easy bruising	Park et al 2016
791	Point	Missense	c.6605G>T	2202	2174	p.Arg2202Leu	d5C2	Exon 25	NA	1	NA	5	Homozygous		Moderate	very mild bleeding tendency after operation	Shinozawa et al 2007
792	Point	Missense	c.6629A>T	2210	2182	p.Gln2210Leu	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293571
793	Point	Missense	c.6649G>A	2217	2189	p.Glu2217Lys	d5C2	Exon 25	NA	12	NA	<1	Homozygous		Asymptomatic	severe post-injury bleeding; bleeding in toe	Paraboschi et al 2020
794	Point	Missense	c.6653T>C	2218	2190	p.Leu2218Pro	d5C2	Exon 25	NA	0	NA	NA	Homozygous		Severe	recurrent epistaxis	Chapla et al 2011
800	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	van der Neut Kolfschoten et al 2003
801	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	NA	NA	NA	NA		NA	NA	Yamazaki et al 2002
795	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	NA	NA	NA	Homozygous		NA	NA	Castoldi et al 2000B
796	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	40	NA	NA	Homozygous		Asymptomatic	NA	Delev et al 2009
797	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	60	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures; hypermenorrhoea	Delev et al 2009
798	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
799	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25	NA	NA	NA	NA	Heterozygous		NA	NA	Scanavini et al 2004

Factor V Gene (F5)

Variant Database

FV Variant Database | Go To Advanced Search Tabular Format | Multiple Variant List Note: Clicking on the column headers will sort the table alphanumerically

FV Variant Database | Go To Advanced Search
Tabular Format | Multiple Variant List

Note: Clicking on the column headers will sort the table alphanumerically