Figure 3.

Pathogenic variant p. Thr2337_Phe2338del. A. Electrophoregram centered on sequence variant. The black arrow indicates the first deleted base. B. Alignments between wild type (WT) and mutated DNA sequences (top) and wild-type and mutated protein sequence (bottom). C. Alignments between deleted region and orthologs. D. Alignments between deleted region and conserved REJ domains.