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Sequence chromatograms of family one. (a) The deletion mutation c.604delC/p.Arg202Glyfs*27 in exon 4, (b) homozygous wild type, (c) the duplication mutation c.820dupC/p.Arg274Profs*15 in exon 6, and (d) homozygous wild type. The black arrowheads denote the loci of the mutations
