Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

Figure 1

(a) Sequence reference by Cystic Fibrosis Mutation Database (http://www.genet.sickkids.on.ca/app). (b) Amplicon Variant Analyzer v 2.7 (AVA) aligns the sequencing reads to the reference sequences NG_016465.1 for CFTR gene (Reads = 470; % A = 99.36%). (c) Sequencing electropherograms of patient showing the substitution of T to A at nucleotide 1043 at exon 8 (the arrow indicates the mutant nucleotide).