Figure 1.

(a) Schematic representation of the variants found in the CHD3 protein (transcript 1, NM_001005273.3) except for the splicing canonical variant that is shown in (b), found in our cohort and in the literature [1,2,3,4,5,6]. Most of the variants are found within the ATPase/helicase functional domain. The colors of missense, nonsense, deletion/insertion and splicing canonical are shown in the legend. * Variants reported in this study. (b) Schematic representation of the CHD3 exons (transcript 1, NM_001005273.3) with the splicing canonical variants.