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Identification of the c. 4894C>T (p.Arg1632CyS) missense mutation in the SCN5A gene. NGS paired-end reads loaded in the IGV genome browser. The arrow indicates the position of the single nucleotide variation in SCN5A gene in the proband (A) compared to a wild type control sample (B). SCN5A gene is in the reverse orientation on the chromosome. Sanger sequencing electropherogram confirm the presence of the variants in the proband (C) and the absence in a wild type control (D).
