Figure 1

Sequence chromatograms for BHD, TP53, and HNF1β. R, N, and T are DNA from a commercially available reference, the normal tissue and its matched tumour tissue, respectively. (A) Corresponds to BHD with a somatic mutation (T68, c.1433(IVS12)-2A>T) (left) and a possible germline mutation (T16, c.103_125(558_580)del23) (right). (B) Corresponds to TP53 with a somatic mutation (T72, c.393_395delCAA) (left) and a possible germline mutation (T9, c.467G>A) (right). (C) Corresponds to HNF1β with a cytosine insertion in intron 8 (left) and a SNP in the non-coding region of exon 9 (c.*99C>) (right).