Table 2. Summary of SNPs for exome capture sample.
| Categories | III-12 (proband) | III-10 (unaffected) | III-4 (affected) | IV-7 (affected) |
| 1Number of genomic positions for calling SNPs | 134975362 | 135126064 | 134975362 | 135126064 |
| 2Number of high-confidence genotypes | 128995083 | 128400486 | 128538834 | 128338404 |
| Number of high-confidence genotypes in TR | 50782259 | 50828750 | 50782665 | 50812238 |
| Total number of SNPs | 110292 | 108907 | 109560 | 108350 |
| Nonsense | 114 | 115 | 122 | 120 |
| Readthrough | 57 | 50 | 53 | 55 |
| Missense | 11030 | 11033 | 11010 | 10849 |
| 3Splice site | 2704 | 2767 | 2729 | 2673 |
| 5-UTR | 3813 | 3777 | 3836 | 3767 |
| 3-UTR | 7426 | 7276 | 7327 | 7187 |
| NR_exon | 10219 | 10113 | 10086 | 9933 |
| Synonymous-coding | 5856 | 5939 | 5929 | 5908 |
| Intron | 65755 | 64506 | 65128 | 64450 |
| Intergenic | 3318 | 3331 | 3340 | 3408 |
| Homozygous | 45692 | 45421 | 45114 | 45639 |
| Heterozygous | 64600 | 63486 | 64446 | 62711 |
1Genomic positions for calling SNPs include capture target regions and their 200-bp flanking regions; 2Consensus genotype with quality score of at least 20; 3Intronic SNPs within 10 bp of an exon/intron boundary.