| Mutation type:Point | Mutation effect:Missense | Nucleotide number:658 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0663 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 56 | |||||
| Patient information: Monoallelic variation (56); 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 42.6 | 45.4 | 42.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 51 | NA | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 15 | M | 41 | hetero | 66.2 | NA | NA | I | DVT, Other VTE (32, recurrent) | 32 | Poland | thrombosis (Other VTE) | PMID: 28607330 |
| 16 | F | NA | hetero | NA | NA | NA | I | Other VTE, died of cancer | NA | China | NA | PMID: 25393254 |
| 17 | NA | 37 | hetero | 40.9 | NA | 38.3 | I | DVT | 37 | China | NA | PMID: 22545135 |
| 18 | F | NA | hetero | 59 | NA | NA | I | miscarriage (n=3) | NA | Europe | NA | PMID: 18799939 |
| 19 | M | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Europe | NA | PMID: 18799939 |
| 20 | M | NA | hetero | NA | NA | NA | I | asymptomatic | NA | India | NA | PMID: 16820665 |
| 21 | F | 21 | hetero | 67 | NA | 68 | I | NA | NA | Syria | NA | PMID: 16689776 |
| 22 | M | 32 | hetero | 63 | NA | 65 | I | NA | NA | Syria | NA | PMID: 16689776 |
| 23 | NA | NA | hetero | 31; 46 | NA | 34 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 24 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 25 | NA | NA | hetero | 56; 48 | NA | 50 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 26 | NA | NA | hetero | 48; 58 | NA | 51 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 27 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 28 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 29 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 30 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 31 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 32 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 33 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 34 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 35 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 36 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 37 | NA | NA | hetero | 5 | NA | 15 | I | NA | NA | France | anticoagulation therapy | PMID: 7482420 |
| 38 | NA | NA | hetero | 23 | NA | <10 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 39 | NA | NA | hetero | 36 | NA | 41 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 40 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 41 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 42 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 43 | NA | NA | hetero | NA | NA | 22 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 44 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 45 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 46 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 47 | NA | NA | hetero | NA | NA | 64 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 48 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 49 | NA | NA | hetero | 53 | NA | 53 | I | NA | NA | UK | NA | PMID: 7482420 |
| 50 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 51 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 52 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 53 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 54 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 55 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 56 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:659 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0726 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 239 | |||||
| Patient information: Monoallelic variation (239); 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 | F | NA | hetero | NA | 38 | NA | NA | Other VTE | NA | Brazil | thrombosis (Other VTE) | PMID: 10942953 |
| 2 | F | NA | hetero | NA | 56 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 6 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 7 | NA | NA | hetero | NA | NA | <69 | I | DVT | NA | Canada | NA | PMID: 9798967 |
| 8 | NA | NA | hetero | NA | NA | <69 | I | DVT | NA | Canada | NA | PMID: 9798967 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 18 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 22 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 23 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 25 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 29 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 30 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 32 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 33 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 34 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 35 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 36 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 37 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 38 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 39 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 40 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 41 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 42 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 43 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 44 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 45 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 46 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 47 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 48 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 49 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 50 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 51 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 52 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 53 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 54 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 55 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 56 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 57 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 58 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 59 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 60 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 61 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 62 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 63 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 64 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 65 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 66 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 67 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 68 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 69 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 70 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 71 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 72 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 73 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 74 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 75 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 76 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 77 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 78 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 79 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 80 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 81 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 82 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 83 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 84 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 85 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 86 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 87 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 88 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 89 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 90 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 91 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 92 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 93 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 94 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 95 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 96 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 97 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 98 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 99 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 100 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 101 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 102 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 103 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 104 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 105 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 106 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 107 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 108 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 109 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 110 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 111 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 112 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 113 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 114 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 115 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 116 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 117 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 118 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 119 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 120 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 121 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 122 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 123 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 124 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 125 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 126 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 127 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 128 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 129 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 130 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 131 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 132 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 133 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 134 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 135 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 136 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 137 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 138 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 139 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 140 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 141 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 142 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 143 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 144 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 145 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 146 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 147 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 148 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 149 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 150 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 151 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 152 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 153 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 154 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 155 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 156 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 157 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 158 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 159 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 160 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 161 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 162 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 163 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 164 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 165 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 166 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 167 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 168 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 169 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 170 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 171 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 172 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 173 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 174 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 175 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 176 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 177 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 178 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 179 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 180 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 181 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 182 | NA | NA | hetero | 55.7 | 54.6 | 57.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 183 | F | 29 | hetero | 71 | 68 | NA | IIb | DVT (83) | 83 | Germany | FVL (homo). Grandfather with PE and DVT | PMID: 32309994 |
| 184 | F | 52 | hetero | 65 | 57 | NA | IIb | asymptomatic | 52 | Germany | father with PE, mother DVT (59) ; positive lupus anticoagulant | PMID: 32309994 |
| 185 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 186 | NA | 21 | hetero | NA | 70 | 60 | I | PE (18) | 18 | Spain | NA | PMID: 31254973 |
| 187 | NA | 39 | hetero | NA | NA | NA | I | asymptomatic | 39 | Spain | NA | PMID: 31254973 |
| 188 | NA | 38 | hetero | NA | 60 | 41 | I | Other VTE (34, recurrent) | 34 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 189 | M | NA | hetero | NA | NA | NA | I | Other VTE (52) | 52 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 190 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 191 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 192 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 193 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 194 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 195 | NA | 73 | hetero | 55 | 45 | NA | I | Other VTE (58) | 58 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 196 | M | NA | hetero | NA | NA | NA | I | Other VTE (39) | 39 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 197 | F | NA | hetero | NA | NA | NA | I | Other VTE (35) | 35 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 198 | NA | 82 | hetero | NA | 41 | NA | I | Other VTE (64) | 64 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 199 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 200 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 201 | M | 48 | hetero | 60 (58-64) | NA | 64 (61-66) | I | DVT (46, 47), varicose veins | 46 | Portugal | prothrombin G20210A mutation. Surgery varicose veins, obesity, sedentary lifestyle | PMID: 25533856 |
| 202 | NA | NA | hetero | 60 (58-64) | NA | 64 (61-66) | I | Other VTE | NA | Portugal | NA | PMID: 25533856 |
| 203 | NA | NA | hetero | 60 (58-64) | NA | 64 (61-66) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 204 | NA | NA | hetero | 60 (58-64) | NA | 64 (61-66) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 205 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 206 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 207 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 208 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 209 | NA | NA | hetero | NA | 44 | 57 | I | NA | NA | France | NA | PMID: 7482420 |
| 210 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 211 | NA | NA | hetero | NA | 60 | 67 | I | NA | NA | France | NA | PMID: 7482420 |
| 212 | NA | NA | hetero | 16 | NA | 30 | I | NA | NA | France | anticoagulation therapy | PMID: 7482420 |
| 213 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 214 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 215 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 216 | NA | NA | hetero | NA | 60 | 58 | I | NA | NA | France | NA | PMID: 7482420 |
| 217 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 218 | NA | NA | hetero | NA | 56 | 77 | I | NA | NA | France | NA | PMID: 7482420 |
| 219 | NA | NA | hetero | NA | 66 | 77 | I | NA | NA | France | NA | PMID: 7482420 |
| 220 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 221 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 222 | NA | NA | hetero | 30 | NA | 36 | I | NA | NA | UK | NA | PMID: 7482420 |
| 223 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 224 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 225 | NA | NA | hetero | NA | 55 | 54 | I | NA | NA | France | NA | PMID: 7482420 |
| 226 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 227 | NA | NA | hetero | NA | 48 | 58 | I | NA | NA | France | NA | PMID: 7482420 |
| 228 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 229 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 230 | NA | NA | hetero | NA | 46 | 46 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 231 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 232 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 233 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 234 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 235 | NA | NA | hetero | NA | NA | 48 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 236 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 237 | NA | NA | hetero | 58 | 40 | 52 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 238 | NA | NA | hetero | 41 | 53 | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 239 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Portugal | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:658; 658 | |||
| Genome location:Exon7; Exon7 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0663; 0.0663 | Alpha missense prediction class:benign; 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 | F | 18M | homo | 1 | NA | 1 | I | PF (24H), DIC, meningitis with sepsis (29D), OD | 0D | Europe | moderately visually impaired (OD); FFP, LMWH. consanguineous marriage | PMID: 18799939 |
| 2 | M | 2M | homo | <1 | NA | <2 | I | PF (neonate) | 0-1Y | Syria | FFP. consanguineous marriage. In the last three generations of their family, occasionally death in early infancy with PF (suspicion of protein C deficiency) was encountered. | PMID: 16689776 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:659; 659 | |||
| Genome location:Exon7; Exon7 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0726; 0.0726 | Alpha missense prediction class:benign; 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 | NA | 22 | homo | 20 | NA | 19 | I | asymptomatic | 22 | Portugal | NA | PMID: 25533856 |
| 2 | NA | NA | homo | NA | 15 | 16 | I | Other VTE | NA | Portugal | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:125; 659 | |||
| Genome location:Exon3; Exon7 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.3198; 0.0726 | 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 | NA | NA | c.hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:151; 659 | |||
| Genome location:Exon3; Exon7 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.2413; 0.0726 | 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 | NA | NA | c.hetero | NA | NA | 47 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Insertion; Point | Mutation effect:Frameshift; Missense | Nucleotide number:445; 659 | |||
| Genome location:Exon6; Exon7 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.0726 | Alpha missense prediction class: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 | NA | NA | c.hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | c.hetero | 2 | NA | 2 | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Silent | Nucleotide number:520; 660 | |||
| Genome location:Exon6; Exon7 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 24 | I | Other VTE | NA | Netherlands | thrombosis (Other VTE); anticoagulation therapy | PMID: 7482420; PMID: 1868249 |
| 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 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:658; 1163 | |||
| Genome location:Exon7; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0663; 0.8786 | 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 | neonate | c.hetero | <1 | NA | NA | I | PF (neonate), BD, severe thrombocytopenia, DIC | 0-1Y | India | hematuria (BD); FFP and vancomycin and ceftazidime, LMWH. He is the first offspring of nonconsanguineous parents who were childless for 11 years. | PMID: 16820665 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:658; 889 | |||
| Genome location:Exon7; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0663; 0.735 | 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 | 28 | c.hetero | 21 | NA | 18 | I | DVT (21, 23), Other VTE (21), PE | 21 | China | MVT (Other VTE) | PMID: 25393254 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:659; 1166 | |||
| Genome location:Exon7; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0726; 0.9815 | 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 | NA | NA | NA | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |