All sequence variations detected in CHX10 were in exons 3 and 5. Homoduplex indicates two identical alleles. Heteroduplex indicates different alleles. One allele is the wild type sequence and the other one is a sequence variant differing from the wild type one. The single nucleotide substitution at c.471 C>T is a known SNP (rs35435463) and results in a synonymous change in the protein sequence (p.Ser157Ser). The single nucleotide substitution at c.579 G>A is a novel SNP and results in a synonymous change in the protein sequence (p. Gln193Gln). Another novel sequence variation, c.871 G>A, is identified in exon 5 in one affected individual and results in a non-synonymous change in the protein sequence (p. Asp291Asn). This sequence variation is also identified in healthy controls. G=guanosine, T=thymidine, C=cytidine, A=adenosine, S=Ser=serine, Q=Gln=glutamine, D=Asp=aspartic Acid, N=Asn=asparagine. The asterisk indicates that the heteroduplex is detected in 4 of 50 healthy control samples.