The entire genomic sequence of SOX2 was screened by CSGE. Samples which show heteroduplex, triplet, and quadruplet on CSGE are sequenced bi-directionally. Homoduplex indicates two identical alleles. Heteroduplex, triplet, and quadruplet indicate different alleles. One allele is the wild type sequence and the other one is a sequence variant differing from the wild type one. Novel mutation at c.310 G>T results in a nonsense amino acid change at p. Glu104X. The novel single nucleotide deletion at c.549delC results in a frame shift mutation and premature termination at 19 amino acids downstream of the deletion site (p.Pro184ArgfsX19). The novel single nucleotide substitution at c.*557G>A is in the 3′-UTR and does not predictably change the SOX2 protein. Another single nucleotide substitution at *469 C>A is a known SNP (rs11915160) located in the 3′-UTR. G=guanosine, T=thymidine, C=cytidine, A=adenosine, Glu=glutamic acid, Pro=proline, Arg=arginine, X=Stop, FS=frameshift; ¹SNP rs11915160