Sanger sequencing (SS) analysis of two mutated cases (#70 and #31) compared with a wild type reference DNA.
Wild type and deleted alleles are superimposed in SS electropherograms. In case #70, carrying a 2236–2250del, the peaks are perfectly aligned and the starting point of the deletion at base 2236 is easily detectable. Next generation sequencing (NGS) confirmed this type of deletion. In case #31, carrying the same mutation, as detected by NGS, peaks in the SS electropherogram are not well aligned and the starting point of the deletion was incorrectly positioned by the operator at base 2237.