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Sequencing chromatograms. Normal nucleotides (marked with a black bar above the sequence) in the upper chromatogram of the normal individual, IV:2, are deleted, and the novel nucleotides (marked with a red bar above the sequence) are inserted in the lower chromatogram of the proband, IV:4. The deletion and insertion mutation is described as c.2680_2699delinsACTATAGTT (NM_182758.4) and p.(Ser894Thrfs*15).
