Fig 2. Identification of a rare LAMC1 variant in RNA79 (from patient 2011–291).

RNASeq (top panel) and exome sequencing data (bottom panel) from the same individual are shown. The location of a C->T variant which leads to the R490W substitution in the LAMC1 protein is highlighted in both panels. Images were obtained from the Integrative Genomics Viewer.