| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:650 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 8 | |||||
| Patient information: Monoallelic variation (8); 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 | 44 | 45 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |