Figure 1

SMO missense mutation in sporadic KCOTs. A. This alternation at nucleotide position 776 of exon 2 is a heterozygous mutation from T to A and causes the p.Phe166Ile mutation. B. This alternation at nucleotide position 862 of exon 3 is a heterozygous mutation from A to G. However, this nucleotide change does not result in amino acid change (p. = (194) Glu). Minor allele frequency (MAF) = 0.0266. C. This alternation at nucleotide position 1444 of exon 6 was identified in seven tumors. Among 31 patients sequenced, 17 are homozygous and 13 are heterozygous at this site. This nucleotide change does not result in an amino acid change (p. = (388) Gly). MAF = 0.2277. D. This alternation at nucleotide position 2049 of exon 10 is a heterozygous mutation from G to C and causes the p.Ser590Thr mutation. E. This alternation at nucleotide position 1281 of exon 5 is a heterozygous mutation from T to C and causes the p.Val334Gly mutation.