Table 2. Sequence variations in CHX10.
| Person ID | Exon 3 | Sequence results | Exon 5 | Sequence results |
| 012A | homoduplex | homoduplex | ||
| 013A | homoduplex | homoduplex | ||
| 018A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 023A | homoduplex | homoduplex | ||
| 023I | homoduplex | homoduplex | ||
| 025A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 027A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 029A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 030A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 031A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 033A | homoduplex | homoduplex | ||
| 034A | homoduplex | homoduplex | ||
| 035A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 037A | homoduplex | homoduplex | ||
| 038A | homoduplex | homoduplex | ||
| 040A | homoduplex | homoduplex | ||
| 041A | homoduplex | homoduplex | ||
| 042A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 043A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 044A | homoduplex | homoduplex | ||
| 045A | homoduplex | homoduplex | ||
| 046A | homoduplex | homoduplex | ||
| 047A | homoduplex | homoduplex | ||
| 048A | homoduplex | homoduplex | ||
| 049A | heteroduplex | c.579 G>A (Q193Q) | homoduplex | |
| 050A | homoduplex | homoduplex | ||
| 051A | homoduplex | homoduplex | ||
| 052A | homoduplex | homoduplex | ||
| 053A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 054A | homoduplex | homoduplex | ||
| 054H | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 055A | homoduplex | heteroduplex | c.871 G>A (p.D291N)* | |
| 056A | homoduplex | homoduplex | ||
| 058A | homoduplex | homoduplex | ||
| 059A | heteroduplex | c.471 C>T (p.S157S) | homoduplex | |
| 061A | homoduplex | homoduplex |
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.