Table 2. Mutations found in Slovenian patients with HAE.
| Family | Traditional genomic numbering | cDNA numbering | Exon | Predicted effect on protein (traditional numbering) | Reference |
| 1 | g.2409C>T | c.265C>T | 3 | Gln67Stop | 16 |
| 2 | g.16743G>A | c.1351G>A | 8 | Glu429Lys | this study |
| 3 | g.16788C>T | c.1396C>T | 8 | Arg444Cys | 7 |
| 4 | g.2593C>T | c.449C>T | 3 | Ser128Phe | this study |
| 5 | g.635delGinsTT | c.49delGinsTT | 2 | frameshift | this study |
| 6 | g.16789G>A | c.1397G>A | 8 | Arg444His | 7 |
| 7 | g.4393_4394delCT | c.593_594delCT | 4 | frameshift | this study |
| 8 | g.566T>C1 | c.-21T>C1 | 2 | Possible splicing defect | 8,13,16,19 |
New mutations are in boldface type.
1
Homozygous nucleotide change; polymorphism referred as non-pathogenic in heterozygous form.