Fig. 7.

Comparison of HAE causal variant types distribution in Czech cohort, other central European populations, and LOVD worldwide dataset. The data for the Polish population were taken from Obtulowicz et al. [65], and LOVD, while the data for the Hungarian population were taken from Szabó et al. [34]. The data for the German population were taken from LOVD. Regrettably, data for Slovak and Austrian populations, which should be closest to the Czech population from a historical point of view, are not available. The analysis shows that most types of variants were present in similar amounts in all populations studied. However, the proportion of causal splicing variants was remarkably higher in Czech patients than in the other populations and the LOVD dataset