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Sequence chromatograms of family two. (a) The in‐frame mutation c.738_742delinsCCCACAGATCCTGC/p.Gly247_Tyr248delinsProGlnIleLeuHis in exon 5, (b) homozygous wild type, (c) the duplication mutation c.816dupC/p.Arg274Profs*15 in exon 6 and (d) homozygous wild type. The black arrowheads denote the loci of the variants. The black arrowheads denote the loci of the mutations
