Fig. 2From: In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemiaPathogenic variants and in silico analysis. (A) The results of whole-exome sequencing. (B) Sanger sequencing confirmed the existence of LDLR c.2160delC. The reverse primer was used for Sanger sequencing. The shaded area represents the actual base. The contents of the box are the stop codon induced by the deletion mutation of the 2160 locusBack to article page