c.565C>T
p.Arg189Trp
| Mutation type:Point |
Mutation effect:Missense |
Nucleotide number:565 |
| Genome location:Exon7 |
Subdomain:Linker |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 279 |
|
Patient information:
Monoallelic variation (279);
Biallelic variation (0)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
NA |
NA |
hetero |
44 |
NA |
NA |
NA |
Other VTE |
48 |
USA |
thrombosis (Other VTE) |
PMID: 8972002 |
| 2 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
USA |
NA |
PMID: 8972002 |
| 3 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
USA |
NA |
PMID: 8972002 |
| 4 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
USA |
NA |
PMID: 8972002 |
| 5 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
USA |
NA |
PMID: 8972002 |
| 6 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 7 |
F |
49 |
hetero |
43 |
NA |
77 |
II |
PE, DVT (49, died later), lung cancer |
49 |
China |
NA |
PMID: 37950050 |
| 8 |
M |
NA |
hetero |
NA |
NA |
NA |
II |
lung cancer |
NA |
China |
NA |
PMID: 37950050 |
| 9 |
M |
NA |
hetero |
NA |
NA |
NA |
II |
stroke |
NA |
China |
NA |
PMID: 37950050 |
| 10 |
F |
25 |
hetero |
48 |
NA |
80 |
II |
asymptomatic |
25 |
China |
pregnancy |
PMID: 37950050 |
| 11 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 12 |
F |
64 |
hetero |
51 |
NA |
73 |
II |
DVT |
64 |
China |
NA |
PMID: 37950050 |
| 13 |
F |
NA |
hetero |
NA |
NA |
NA |
II |
DVT |
NA |
China |
NA |
PMID: 37950050 |
| 14 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 15 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 16 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 17 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 18 |
M |
53 |
hetero |
50 |
NA |
75 |
II |
DVT (53) |
53 |
China |
NA |
PMID: 37950050 |
| 19 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 20 |
NA |
NA |
hetero |
NA |
NA |
NA |
II |
asymptomatic |
NA |
China |
NA |
PMID: 37950050 |
| 21 |
M |
29 |
hetero |
NA |
NA |
NA |
NA |
PE (27, 29) |
27 |
China |
NA |
PMID: 37789321 |
| 22 |
F |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 23 |
M |
34 |
hetero |
NA |
NA |
NA |
NA |
multiple DVT and PE (32) |
32 |
China |
NA |
PMID: 37789321 |
| 24 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 25 |
M |
38 |
hetero |
NA |
NA |
NA |
NA |
Other VTE (31, 35) |
31 |
China |
PVT (Other VTE) |
PMID: 37789321 |
| 26 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 27 |
F |
26 |
hetero |
NA |
NA |
NA |
NA |
DVT and PE (21) |
21 |
China |
NA |
PMID: 37789321 |
| 28 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 29 |
F |
65 |
hetero |
NA |
NA |
NA |
NA |
DVT and PE (61) |
61 |
China |
NA |
PMID: 37789321 |
| 30 |
M |
32 |
hetero |
NA |
NA |
NA |
NA |
Other VTE (31) |
31 |
China |
CVT (Other VTE) |
PMID: 37789321 |
| 31 |
F |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 32 |
F |
37 |
hetero |
NA |
NA |
NA |
NA |
DVT (36) |
36 |
China |
NA |
PMID: 37789321 |
| 33 |
F |
27 |
hetero |
NA |
NA |
NA |
NA |
PE (26) |
26 |
China |
pregnancy |
PMID: 37789321 |
| 34 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 35 |
F |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 36 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 37 |
F |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 38 |
F |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 39 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 40 |
M |
35 |
hetero |
NA |
NA |
NA |
NA |
MI (26), PE, DVT (44) |
26 |
China |
PSD (p.E67A); sedentariness 1st |
PMID: 37789321 |
| 41 |
M |
38 |
hetero |
NA |
NA |
NA |
NA |
Other VTE (36) |
36 |
China |
PVT (Other VTE); PSD (R561W) |
PMID: 37789321 |
| 42 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 43 |
M |
46 |
hetero |
NA |
NA |
NA |
NA |
PE (38), stroke (40) |
38 |
China |
PLG (Exon1-2deletion) |
PMID: 37789321 |
| 44 |
M |
32 |
hetero |
NA |
NA |
NA |
NA |
DVT (30) |
30 |
China |
hyperlipidemia; Klinefelter syndrome |
PMID: 37789321 |
| 45 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
China |
NA |
PMID: 37789321 |
| 46 |
M |
53 |
hetero |
50 |
NA |
75 |
II |
DVT |
53 |
China |
Smoking |
PMID: 35231991 |
| 47 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 48 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 49 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 50 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 51 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 52 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 53 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 54 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 55 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 56 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
Other VTE |
NA |
France |
NA |
PMID: 32717757 |
| 57 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 58 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 59 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 60 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 61 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 62 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 63 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 64 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 65 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 66 |
NA |
NA |
hetero |
64.1 |
58 |
61.3 |
IIb |
asymptomatic |
NA |
France |
NA |
PMID: 32717757 |
| 67 |
F |
25 |
hetero |
62.75 |
NA |
<70 |
NA |
asymptomatic |
25 |
Thailand |
NA |
PMID: 30925296 |
| 68 |
M |
23 |
hetero |
62.75 |
NA |
<70 |
NA |
asymptomatic |
23 |
Thailand |
NA |
PMID: 30925296 |
| 69 |
F |
35 |
hetero |
68.75 |
NA |
<70 |
NA |
asymptomatic |
35 |
Thailand |
NA |
PMID: 30925296 |
| 70 |
F |
35 |
hetero |
NA |
NA |
57.6 |
NA |
stroke (35, recurrent), Other VTE (31), SLE, hyperthyroidism (31) |
31 |
China |
thrombosis (Other VTE); antiplatelet agent aspirin |
PMID: 30210609 |
| 71 |
M |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 30210609 |
| 72 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 73 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 74 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 75 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 76 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 77 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 78 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 79 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 80 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 81 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 82 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 83 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 84 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 85 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 86 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 87 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 88 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 89 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 90 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 91 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 92 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 93 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 94 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 95 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 96 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 97 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 98 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 99 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 100 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 101 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 102 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 103 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 104 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 105 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 106 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 107 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 108 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 109 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 110 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 111 |
NA |
NA |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 112 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 113 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 114 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 115 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 116 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 117 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Arterial ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 118 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 119 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 120 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 121 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 122 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 123 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 124 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
CVT (Other VTE) |
PMID: 28511552 |
| 125 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
CVT (Other VTE) |
PMID: 28511552 |
| 126 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
CVT (Other VTE) |
PMID: 28511552 |
| 127 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
CVT (Other VTE) |
PMID: 28511552 |
| 128 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
CVT (Other VTE) |
PMID: 28511552 |
| 129 |
NA |
≤18 |
hetero |
80.0 (37-168) |
NA |
NA |
NA |
Systemic AT |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 130 |
M |
35 |
hetero |
69 |
NA |
78 |
II |
asymptomatic |
35 |
China |
NA |
PMID: 28186585 |
| 131 |
F |
41 |
hetero |
65 |
NA |
76 |
II |
asymptomatic |
41 |
China |
NA |
PMID: 28186585 |
| 132 |
M |
53 |
hetero |
50 |
NA |
75 |
II |
Other VTE |
53 |
China |
long-term smoking |
PMID: 28186585 |
| 133 |
M |
29 |
hetero |
64 |
NA |
82 |
II |
asymptomatic |
29 |
China |
NA |
PMID: 28186585 |
| 134 |
M |
NA |
hetero |
60 |
NA |
79 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 27314862 |
| 135 |
F |
NA |
hetero |
61 |
NA |
76 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 27314862 |
| 136 |
NA |
NA |
hetero |
45.6 |
NA |
NA |
NA |
DVT, recurrent Other VTE |
NA |
China |
familly history of VTE |
PMID: 24028705 |
| 137 |
NA |
NA |
hetero |
63.9 |
NA |
NA |
NA |
DVT |
NA |
China |
NA |
PMID: 24028705 |
| 138 |
NA |
NA |
hetero |
77.6 |
NA |
NA |
NA |
DVT |
NA |
China |
NA |
PMID: 24028705 |
| 139 |
NA |
NA |
hetero |
46.8 |
NA |
NA |
NA |
DVT |
NA |
China |
NA |
PMID: 24028705 |
| 140 |
NA |
NA |
hetero |
26.2 |
NA |
NA |
NA |
DVT |
NA |
China |
NA |
PMID: 24028705 |
| 141 |
M |
24 |
hetero |
46 |
NA |
64.4 |
NA |
PE (22), DVT (22, 24) |
22 |
China |
PSD (Tyr519X), family history of DVT |
PMID: 22951146 |
| 142 |
F |
24 |
hetero |
65.9 |
NA |
76.5 |
NA |
DVT (21) |
21 |
China |
NA |
PMID: 22951146 |
| 143 |
F |
24 |
hetero |
38.6 |
NA |
45.3 |
NA |
DVT (23, 24) |
23 |
China |
NA |
PMID: 22951146 |
| 144 |
F |
33 |
hetero |
63.9 |
NA |
71.8 |
NA |
DVT (33) |
33 |
China |
Pregnancy |
PMID: 22951146 |
| 145 |
M |
19 |
hetero |
69.4 |
NA |
74.9 |
NA |
DVT (19) |
19 |
China |
NA |
PMID: 22951146 |
| 146 |
M |
68 |
hetero |
46.8 |
NA |
67.2 |
NA |
DVT and PE (68) |
68 |
China |
surgery |
PMID: 22951146 |
| 147 |
M |
28 |
hetero |
63.9 |
NA |
64 |
NA |
DVT (28) |
28 |
China |
NA |
PMID: 22951146 |
| 148 |
F |
24 |
hetero |
65.9 |
NA |
NA |
NA |
Other VTE |
24 |
China |
NA |
PMID: 22944127 |
| 149 |
M |
24 |
hetero |
38.6 |
NA |
NA |
NA |
Other VTE |
24 |
China |
NA |
PMID: 22944127 |
| 150 |
F |
33 |
hetero |
63.9 |
NA |
NA |
NA |
Other VTE |
33 |
China |
NA |
PMID: 22944127 |
| 151 |
M |
19 |
hetero |
61 |
NA |
NA |
NA |
Other VTE |
19 |
China |
NA |
PMID: 22944127 |
| 152 |
M |
68 |
hetero |
46.8 |
NA |
NA |
NA |
Other VTE |
68 |
China |
NA |
PMID: 22944127 |
| 153 |
M |
28 |
hetero |
26.2 |
NA |
NA |
NA |
Other VTE |
28 |
China |
NA |
PMID: 22944127 |
| 154 |
F |
26 |
hetero |
63 |
NA |
65 |
I |
DVT |
26 |
India |
NA |
PMID: 22576310 |
| 155 |
M |
46 |
hetero |
46 |
NA |
48 |
I |
DVT |
46 |
India |
NA |
PMID: 22576310 |
| 156 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 157 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 158 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 159 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 160 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 161 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 162 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 163 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 164 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 165 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 166 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 167 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 168 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 169 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 170 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 171 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 172 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
DVT |
NA |
China |
NA |
PMID: 22545135 |
| 173 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 174 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 175 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 176 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 177 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 178 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 179 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 180 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 181 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 182 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 183 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 184 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 185 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 186 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 187 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 188 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 189 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 190 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 191 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 192 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 193 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 194 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 195 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 196 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 197 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 198 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 199 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 200 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 201 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 202 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 203 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 204 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 205 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 206 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 207 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 208 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 209 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 210 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 211 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 212 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 213 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 214 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 215 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 216 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 217 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 218 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 219 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 220 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 221 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 222 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 223 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 224 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 225 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 226 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 227 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 228 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 229 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 230 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 231 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
Other VTE |
NA |
China |
NA |
PMID: 22545135 |
| 232 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 233 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 234 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 235 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 236 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 237 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 238 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 239 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 240 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 241 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 242 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 243 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 244 |
NA |
NA |
hetero |
40.4-62.3 |
NA |
68.7-83.0 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22545135 |
| 245 |
F |
NA |
hetero |
16 |
NA |
83 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22366017 |
| 246 |
F |
NA |
hetero |
15 |
NA |
72 |
II |
asymptomatic |
NA |
China |
NA |
PMID: 22366017 |
| 247 |
F |
26 |
hetero |
NA |
NA |
65 |
NA |
DVT (26) |
26 |
India |
NA |
PMID: 19350130 |
| 248 |
NA |
NA |
hetero |
35 |
NA |
49 |
NA |
Other VTE (42) |
42 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
| 249 |
NA |
NA |
hetero |
54 |
NA |
66 |
NA |
Other VTE (38) |
38 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
| 250 |
NA |
NA |
hetero |
44 |
NA |
48 |
NA |
Other VTE (75) |
75 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
| 251 |
NA |
NA |
hetero |
58 |
NA |
78 |
NA |
Other VTE (56) |
56 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
| 252 |
NA |
NA |
hetero |
72 |
NA |
74 |
NA |
Other VTE during SLE with nephritis (15) |
15 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
| 253 |
NA |
NA |
hetero |
65 |
NA |
76 |
NA |
Other VTE (29) |
29 |
China |
thrombosis (Other VTE); PSD |
PMID: 15114590 |
| 254 |
NA |
NA |
hetero |
54.7±13.6 |
NA |
54.7±11.5 |
NA |
DVT after an operation for brain abscess (43) |
43 |
China |
surgery |
PMID: 15114590 |
| 255 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 256 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 257 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 258 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 259 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 260 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 261 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 262 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 263 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 264 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 265 |
NA |
NA |
hetero |
61.8±6.6 |
NA |
65.2±13.5 |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 266 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 267 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 268 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 269 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 270 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 271 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 272 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 273 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 274 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 275 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 276 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
asymptomatic |
NA |
China |
NA |
PMID: 15114590 |
| 277 |
NA |
NA |
hetero |
49 |
NA |
45 |
I |
NA |
NA |
UK |
NA |
PMID: 7482420 |
| 278 |
NA |
NA |
hetero |
73 |
NA |
74 |
I |
NA |
NA |
Netherlands |
NA |
PMID: 7482420 |
| 279 |
NA |
NA |
hetero |
NA |
NA |
NA |
NA |
NA |
NA |
USA |
NA |
PMID: 7482420 |
c.566G>A
p.Arg189Gln
| Mutation type:Point |
Mutation effect:Missense |
Nucleotide number:566 |
| Genome location:Exon7 |
Subdomain:Linker |
| Alpha missense prediction value:0.0783 |
Alpha missense prediction class:benign |
| No. of patients reported: 5 |
|
Patient information:
Monoallelic variation (5);
Biallelic variation (0)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
21 |
hetero |
26 |
NA |
70 |
II |
Other VTE with peri-venous panniculitis (21) |
21 |
Japan |
apixaban, urokinase and unfractionated heparin |
PMID: 36312771 |
| 2 |
F |
84 |
hetero |
83 |
NA |
123 |
II |
NA |
NA |
Japan |
NA |
PMID: 36312771 |
| 3 |
F |
47 |
hetero |
98 |
NA |
165 |
II |
NA |
NA |
Japan |
NA |
PMID: 36312771 |
| 4 |
M |
23 |
hetero |
<10 |
NA |
33 |
II |
Other VTE (20) |
20 |
Japan |
anticoagulation therapy |
PMID: 36312771 |
| 5 |
F |
19 |
hetero |
20 |
NA |
90 |
II |
NA |
NA |
Japan |
NA |
PMID: 36312771 |
c.[565C>T]; [565C>T]
p.[Arg189Trp]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 565 |
| Genome location:Exon7; Exon7 |
Subdomain:Linker; Linker |
| Alpha missense prediction value:0.0952; 0.0952 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 15 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (15)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
F |
42 |
homo |
44 |
NA |
56 |
I |
Infertility |
42 |
China |
NA |
PMID: 37950050 |
| 2 |
F |
46 |
homo |
28 |
NA |
78 |
II |
Other VTE (46) |
46 |
China |
CVT (Other VTE) |
PMID: 37950050 |
| 3 |
F |
46 |
homo |
21 |
NA |
53 |
I |
Other VTE (46) |
46 |
China |
CVT (Other VTE) |
PMID: 37950050 |
| 4 |
F |
46 |
homo |
21 |
NA |
78 |
II |
Other VTE (46) |
46 |
China |
CVT (Other VTE); consanguineous marriage |
PMID: 35231991 |
| 5 |
F |
45 |
homo |
48 |
NA |
<70 |
NA |
asymptomatic |
45 |
Thailand |
NA |
PMID: 30925296 |
| 6 |
F |
22 |
homo |
49.5 |
NA |
<70 |
NA |
asymptomatic |
22 |
Thailand |
NA |
PMID: 30925296 |
| 7 |
F |
22 |
homo |
41.5 |
NA |
<70 |
NA |
asymptomatic |
22 |
Thailand |
NA |
PMID: 30925296 |
| 8 |
F |
32 |
homo |
54 |
NA |
<70 |
NA |
asymptomatic |
32 |
Thailand |
NA |
PMID: 30925296 |
| 9 |
M |
66 |
homo |
49.5 |
NA |
<70 |
NA |
asymptomatic |
66 |
Thailand |
NA |
PMID: 30925296 |
| 10 |
NA |
NA |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
asymptomatic |
NA |
Thailand |
NA |
PMID: 28511552 |
| 11 |
NA |
≤18 |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
acute ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 12 |
NA |
≤18 |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
acute ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 13 |
NA |
≤18 |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
acute ischemic stroke |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 14 |
NA |
≤18 |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
| 15 |
NA |
≤18 |
homo |
44.3 (14.4-73.1) |
NA |
NA |
NA |
Other VTE |
≤18 |
Thailand |
NA |
PMID: 28511552 |
c.[-228T>C]; [565C>T]
NA; p.Arg189Trp
| Mutation type:Point; Point |
Mutation effect:Gene expression; Missense |
Nucleotide number:-228; 565 |
| Genome location:Promoter; Exon7 |
Subdomain:NA; Linker |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 3 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (3)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
33 |
c.hetero |
61 |
NA |
<70 |
NA |
asymptomatic |
33 |
Thailand |
NA |
PMID: 30925296 |
| 2 |
F |
26 |
c.hetero |
65 |
NA |
<70 |
NA |
asymptomatic |
26 |
Thailand |
NA |
PMID: 30925296 |
| 3 |
F |
40 |
c.hetero |
57.75 |
NA |
<70 |
NA |
asymptomatic |
40 |
Thailand |
NA |
PMID: 30925296 |
c.[66T>C]; [565C>T]
p.[Pro22pro]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Silent; Missense |
Nucleotide number:66; 565 |
| Genome location:Exon2; Exon7 |
Subdomain:Propeptide; Linker |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
NA |
NA |
c.hetero |
NA |
NA |
NA |
NA |
Other VTE |
NA |
France |
thrombosis (Other VTE) |
PMID: 10669160 |
c.[76G>A]; [565C>T]
p.[Val26Met]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:76; 565 |
| Genome location:Exon3; Exon7 |
Subdomain:Propeptide; Linker |
| Alpha missense prediction value:0.3205; 0.0952 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
48 |
c.hetero |
NA |
NA |
PC defect |
I |
DVT, PE (48) |
48 |
China |
NA |
PMID: 37789321 |
c.[169C>T]; [565C>T]
p.[Arg57Trp]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:169; 565 |
| Genome location:Exon3; Exon7 |
Subdomain:Gla; Linker |
| Alpha missense prediction value:0.3331; 0.0952 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
27 |
c.hetero |
39 |
NA |
42.1 |
NA |
DVT (25, 26) |
25 |
China |
NA |
PMID: 22951146 |
c.[211G>A]; [565C>T]
p.[Glu71Lys]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:211; 565 |
| Genome location:Exon3; Exon7 |
Subdomain:Gla; Linker |
| Alpha missense prediction value:0.6691; 0.0952 |
Alpha missense prediction class:pathogenic; benign |
| No. of patients reported: 2 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (2)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
20 |
c.hetero |
19 |
NA |
42 |
NA |
PE (19) |
19 |
China |
NA |
PMID: 22951146 |
| 2 |
M |
19 |
c.hetero |
19 |
NA |
42 |
II |
PE |
19 |
China |
LMWH, thrombolysis, anticoagulation therapy |
PMID: 22366017 |
c.[247T>C]; [565C>T]
p.[Trp83Arg]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:247; 565 |
| Genome location:Exon4; Exon7 |
Subdomain:Gla; Linker |
| Alpha missense prediction value:0.9123; 0.0952 |
Alpha missense prediction class:pathogenic; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
54 |
c.hetero |
NA |
NA |
PC defect |
NA |
Other VTE (34); DVT (50) |
34 |
China |
thrombosis (Other VTE) |
PMID: 37789321 |
c.[262+2T>C]; [565C>T]
NA; p.Arg189Trp
| Mutation type:Point; Point |
Mutation effect:Splice; Missense |
Nucleotide number:262; 565 |
| Genome location:Intron4; Exon7 |
Subdomain:NA; Linker |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
35 |
c.hetero |
53 |
NA |
PC defect |
NA |
multiple DVT (29) |
29 |
China |
NA |
PMID: 37789321 |
c.[325G>C]; [565C>T]
p.[Gly109Arg]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:325; 565 |
| Genome location:Exon5; Exon7 |
Subdomain:EGF1; Linker |
| Alpha missense prediction value:0.8221; 0.0952 |
Alpha missense prediction class:pathogenic; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
49 |
c.hetero |
NA |
NA |
PC defect |
I |
PE (47) |
47 |
China |
NA |
PMID: 37789321 |
c.[383G>A]; [565C>T]
p.[Gly128Asp]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:383; 565 |
| Genome location:Exon5; Exon7 |
Subdomain:EGF1; Linker |
| Alpha missense prediction value:0.6093; 0.0952 |
Alpha missense prediction class:pathogenic; benign |
| No. of patients reported: 4 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (4)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
8 |
c.hetero |
30 |
NA |
35 |
I |
PF (8) |
8 |
China |
NA |
PMID: 37950050 |
| 2 |
M |
8 |
c.hetero |
18 |
NA |
58 |
I |
PF (8) |
8 |
China |
NA |
PMID: 35231991 |
| 3 |
M |
8 |
c.hetero |
30 |
NA |
35 |
I |
PF |
8 |
China |
NA |
PMID: 28186585 |
| 4 |
M |
12 |
c.hetero |
27 |
NA |
35 |
I |
asymptomatic |
12 |
China |
NA |
PMID: 27314862 |
c.[541T>G]; [565C>T]
p.[Phe181Val]; [Arg189Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:541; 565 |
| Genome location:Exon7; Exon7 |
Subdomain:Linker; Linker |
| Alpha missense prediction value:0.4146; 0.0952 |
Alpha missense prediction class:ambiguous; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
24 |
c.hetero |
NA |
NA |
PC defect |
I |
DVT (14, 22, 23), APS |
14 |
China |
NA |
PMID: 37789321 |
c.[565C>T]; [1081A>G]
p.[Arg189Trp]; [Asn361Asp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 1081 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.2464 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
F |
34 |
c.hetero |
58 |
NA |
PC defect |
NA |
Other VTE (31) |
31 |
China |
PVT (Other VTE); Oral contraceptives |
PMID: 37789321 |
c.[565C>T]; [1115A>G]
p.[Arg189Trp]; [Glu372Gly]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 1115 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.2224 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
31 |
c.hetero |
49 |
NA |
PC defect |
NA |
DVT (27, 30) |
27 |
China |
sedentariness 1st |
PMID: 37789321 |
c.[565C>T]; [1130T>C]
p.[Arg189Trp]; [Met377Thr]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 1130 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.7544 |
Alpha missense prediction class:benign; pathogenic |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
33 |
c.hetero |
NA |
NA |
PC defect |
I |
DVT, PE (29) |
29 |
China |
NA |
PMID: 37789321 |
c.[565C>T]; [1139_1145delTGGTGTC]
p.[Arg189Trp]; [Val381ArgfsX38]
| Mutation type:Point; Deletion |
Mutation effect:Missense; Frameshift |
Nucleotide number:565; 1139 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
69 |
c.hetero |
45 |
NA |
PC defect |
NA |
DVT (51, 60, 66) |
51 |
China |
surgery 2nd |
PMID: 37789321 |
c.[565C>T]; [1157T>C]
p.[Arg189Trp]; [Leu386Pro]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 1157 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.9891 |
Alpha missense prediction class:benign; pathogenic |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
58 |
c.hetero |
NA |
NA |
PC defect |
NA |
DVT, PE (42, 56) |
42 |
China |
NA |
PMID: 37789321 |
c.[565C>T]; [1212delG]
p.[Arg189Trp]; [Met406TrpfsX15]
| Mutation type:Point; Deletion |
Mutation effect:Missense; Frameshift |
Nucleotide number:565; 1212 |
| Genome location:Exon7; Exon9 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
NA |
NA |
c.hetero |
NA |
16 |
26 |
I |
Other VTE |
NA |
USA |
thrombosis (Other VTE) |
PMID: 7482420 |
c.[565C>T]; [574_576delAAG]
p.[Arg189Trp]; [Lys192del]
| Mutation type:Point; Deletion |
Mutation effect:Missense; Inframe |
Nucleotide number:565; 574 |
| Genome location:Exon7; Exon7 |
Subdomain:Linker; Linker |
| Alpha missense prediction value:0.0952 |
Alpha missense prediction class:benign |
| No. of patients reported: 6 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (6)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
38 |
c.hetero |
NA |
NA |
PC defect |
NA |
multiple DVT (34) |
34 |
China |
Surgery |
PMID: 37789321 |
| 2 |
M |
54 |
c.hetero |
NA |
NA |
PC defect |
NA |
DVT (48, 53), PE (53) |
48 |
China |
NA |
PMID: 37789321 |
| 3 |
M |
38 |
c.hetero |
NA |
NA |
PC defect |
NA |
multiple DVT (34) |
34 |
China |
NA |
PMID: 37789321 |
| 4 |
M |
54 |
c.hetero |
NA |
NA |
PC defect |
NA |
DVT (48, 53), PE (53) |
48 |
China |
NA |
PMID: 37789321 |
| 5 |
F |
NA |
c.hetero |
41 |
NA |
NA |
NA |
DVT |
NA |
Korea |
NA |
PMID: 24162787 |
| 6 |
NA |
NA |
c.hetero |
56 |
NA |
60 |
NA |
Other VTE (41) |
41 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |
c.[565C>T]; [632G>A]
p.[Arg189Trp]; [Arg211Gln]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 632 |
| Genome location:Exon7; Exon7 |
Subdomain:Linker; Activation peptide |
| Alpha missense prediction value:0.0952; 0.144 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
33 |
c.hetero |
NA |
NA |
PC defect |
NA |
multiple DVT (23, 24, 31) |
23 |
China |
Trauma 1st |
PMID: 37789321 |
c.[565C>T]; [658C>T]
p.[Arg189Trp]; [Arg220Trp]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 658 |
| Genome location:Exon7; Exon7 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.0663 |
Alpha missense prediction class:benign; benign |
| No. of patients reported: 4 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (4)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
M |
56 |
c.hetero |
NA |
NA |
PC defect |
I |
multiple DVT (49, 54) |
49 |
China |
NA |
PMID: 37789321 |
| 2 |
M |
26 |
c.hetero |
NA |
NA |
PC defect |
I |
stroke (21) |
21 |
China |
NA |
PMID: 37789321 |
| 3 |
M |
47 |
c.hetero |
30 |
NA |
48.4 |
I |
DVT (40, 43) |
40 |
China |
Cholecystectomy |
PMID: 22951146 |
| 4 |
M |
NA |
c.hetero |
NA |
NA |
NA |
I |
DVT |
NA |
China |
NA |
PMID: 22951146 |
c.[565C>T]; [743T>C]
p.[Arg189Trp]; [Val248Ala]
| Mutation type:Point; Point |
Mutation effect:Missense; Missense |
Nucleotide number:565; 743 |
| Genome location:Exon7; Exon8 |
Subdomain:Linker; Serine protease |
| Alpha missense prediction value:0.0952; 0.5727 |
Alpha missense prediction class:benign; pathogenic |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
NA |
NA |
c.hetero |
37 |
NA |
53 |
NA |
Other VTE (44) |
44 |
China |
thrombosis (Other VTE); Oral pill for 10 years+long airline flight |
PMID: 15114590 |
c.[565C>T]; [815G>A; 889G>C]
p.[Arg189Trp]; [Arg272His; Asp297His]
| Mutation type:Point; Point; Point |
Mutation effect:Missense; Missense; Missense |
Nucleotide number:565; 815; 889 |
| Genome location:Exon7; Exon9; Exon9 |
Subdomain:Linker; Serine protease; Serine protease |
| Alpha missense prediction value:0.0952; 0.1052; 0.735 |
Alpha missense prediction class:benign; benign; pathogenic |
| No. of patients reported: 1 |
|
Patient information:
Monoallelic variation (0);
Biallelic variation (1)
|
| Patient |
Sex |
Age |
Genotype |
PC: amidolytic act (%) |
PC: clotting act (%) |
PC: Ag (%) |
PCD type |
Clinical presentation (age) |
First onset age |
Country |
Comments |
Reference |
| 1 |
NA |
NA |
c.hetero |
16 |
NA |
42 |
NA |
Other VTE (14) |
14 |
China |
thrombosis (Other VTE) |
PMID: 15114590 |