Additional file 1: of Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Figure S1. Sequencing data for SLC35A2 mutation. [A]- Integrative Genomics Viewer image of next generation sequencing data showing chrX:g.48762195C > T (HG19) variant present in 20% of reads. [B] Bidirectional Sanger sequence confirmation of c.991G > A SLC35A2 variant in peripheral blood sample from proband. [C] Bidirectional Sanger sequence data from maternal blood sample demonstrating absence of the c.991G > A variant. Note- next generation sequence data shown in relation to the HG19 chromosome X reference sequence, while Sanger sequencing data is presented in relation to the SLC35A2 reference transcript (NM_005660.2) which is located on the opposite strand. (TIFF 1521 kb)