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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
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
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
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
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
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
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
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
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
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
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
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
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
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
41
Point
Silent
c.405NA
135
107
p.Ala135Ala
d5A1
Exon 4
NA
NA
NA
NA
NA
NA
NA
Janicki et al 2013
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
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
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
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
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
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
51
Point
Nonsense
c.439G>T
147
119
p.Glu147*
d5A1
Exon 4
NA
48
NA
NA
Heterozygous
Asymptomatic
NA
Mumford et al 2003
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
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
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
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
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
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
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
63
Point
Silent
c.552NA
184
156
p.Ser184Ser
d5A1
Exon 4
NA
NA
NA
NA
NA
NA
NA
Janicki et al 2013
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
125
Point
Missense
c.1064C>T
355
327
p.Ala355Val
d5A2
Exon 7
NA
50
NA
NA
Heterozygous
Asymptomatic
NA
Delev et al 2009
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
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
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
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
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
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
135
Point
Intronic
c.1119-12C>G
NA
NA
NA
Intron
Intron 7
NA
NA
NA
NA
NA
NA
NA
Peyvandi et al 2002
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
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
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
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
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
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
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
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
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
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
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
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
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
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
169
Point
Missense
c.1321C>T
441
413
p.Arg441Cys
d5A2
Exon 9
NA
NA
NA
NA
Heterozygous
NA
NA
Delev 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
194
Point
Missense
c.1561G>A
521
493
p.Gly521Arg
d5A2
Exon 10
NA
35
NA
33
Heterozygous
Asymptomatic
NA
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
273
Deletion
Truncation
c.delexon13
NA
NA
NA
NA
Exon 13
NA
NA
NA
NA
NA
NA
NA
Zimowski et al 2021
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
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
274
Point
Intronic
c.1975+1G
NA
NA
NA
Intron
Intron 12
NA
NA
NA
NA
NA
NA
NA
Peyvandi et al 2002
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
401
Duplication
Frameshift
c.3187dupA
1063
1035
p.Arg1063fs
d5B
Exon 13
NA
NA
NA
NA
NA
NA
NA
NCBI Clinvar Variation ID: 56159
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
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
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
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
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
407
Point
Nonsense
c.3279G>A
1093
1065
p.Trp1093*
d5B
Exon 13
NA
21
NA
NA
NA
Asymptomatic
NA
Bernal et al 2021
408
Point
Nonsense
c.3279G>A
1093
1065
p.Trp1093*
d5B
Exon 13
NA
<1
NA
NA
NA
Severe
NA
Bernal et al 2021
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
410
Deletion
Frameshift
c.3296delA
1099
1071
p.Asp1099Alafs*72
d5B
Exon 13
NA
NA
NA
3
Homozygous
NA
haematomas
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
440
Point
Nonsense
c.3481C>T
1161
1133
p.Arg1161*
d5B
Exon 13
NA
45
NA
25
Heterozygous
Asymptomatic
NA
Song et al 2009
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
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
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
444
Deletion
Nonsense
c.3576delG
1193
1165
p.Val1193*
d5B
Exon 13
NA
NA
NA
NA
NA
NA
NA
Baz et al 2021
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
533
Point
Nonsense
NA
1598
1570
p.Gln1598*
d5A3
Exon 14
NA
<5
NA
NA
NA
Asymptomatic
NA
Brodard et al 2020
534
Point
Nonsense
NA
1598
1570
p.Gln1598*
d5A3
Exon 14
NA
NA
NA
NA
NA
NA
NA
Brodard et al 2020
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
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
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
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
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
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
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
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
542
Point
Nonsense
c.4900C>T
1634
1606
p.Arg1634*
d5A3
Exon 14
NA
NA
NA
NA
Heterozygous
NA
NA
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
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
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
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
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
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
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
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
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
560
Deletion
Frameshift
c.5022delA
1674
1646
p.Gly1674Glyfs
d5A3
Exon 15
NA
NA
NA
NA
NA
NA
NA
Baz et al 2021
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
588
Point
Missense
c.5189A>G
1730
1702
p.Tyr1730Cys
d5A3
Exon 15
NA
40
NA
45
Heterozygous
Asymptomatic
NA
Castoldi et al 2000A
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
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
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
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
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
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
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
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
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
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
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
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
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
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
621
Point
Missense
c.5318T>A
1773
1745
p.Phe1773Tyr
d5A3
Exon 16
NA
30
NA
NA
Heterozygous
Asymptomatic
NA
Delev et al 2009
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
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
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
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
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
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
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
630
Point
Missense
c.5419G>A
1807
1779
p.Ala1807Thr
d5A3
Exon 16
NA
30
NA
NA
Heterozygous
Asymptomatic
NA
Delev et al 2009
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
682
Point
Intronic
c.5789-5T>G
NA
NA
NA
Intron
Intron 19
NA
4
NA
NA
Homozygous
Moderate
NA
Paraboschi et al 2019
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
715
Point
Missense
c.6100C>G
2034
2006
p.Pro2034Ala
d5C1
Exon 22
NA
low
NA
low
Homozygous
NA
NA
Huang et al 2010
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
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
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
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
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
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
721
Point
Nonsense
c.6175C>T
2059
2031
p.Gln2059*
d5C1
Exon 22
NA
52
NA
37
Heterozygous
Asymptomatic
NA
Wang et al 2014
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
533
Point
Nonsense
NA
2114
2086
p.Gln1598*
d5A3
Exon 14
NA
<5
NA
NA
NA
Asymptomatic
NA
Brodard et al 2020
534
Point
Nonsense
NA
2114
2086
p.Gln1598*
d5A3
Exon 14
NA
NA
NA
NA
NA
NA
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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