Figure 2. Sequence track of the SMCHD1 pathogenic variant in the family with FSHD2 and in a control sample.

The position of the variant in exon 3 is indicated above the sequence traces and is highlighted in yellow. The genomic position is based on reference genome hg19 and the transcript and protein position on accession number NM015295 and NP056110, respectively. FSHD2 = facioscapulohumeral muscular dystrophy type 2.