| Mutation type:Delins | Mutation effect:Inframe | Nucleotide number:344 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 41 | 45.4 | 41.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:355 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 42 | I | NA | NA | USA | NA | PMID: 7482420 |