Fig. 2
From: Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome
Types of variants of the 177 families included and their position along the COL3A1 gene. Boxes represent exons of the COL3A1 gene (NG_007404.1). The color code indicates the type of variants (glycine substitutions in black, splice-site variants in red, deletions and indels in green, variants leading to haploinsufficiency in blue, and variants of uknown significance [VUS] in yellow). The complete nomenclature of each variant can be found in Supplemental Table 2. The numbers in bold indicate the number of times the variants were found.
