Table 1.
Chromosome | Start* | End* | Variants | Previously unreported variants† | Previously unreported protein-altering variants | Previously unreported protein-altering variants that cosegregate with the phenotype |
4 | 38,187,084 | 49,061,848 | 66 | 3 | 1 | 1 |
6 | 44,575,446 | 53,593,569 | 49 | 1 | 0 | 0 |
8 | 39,869,633 | 43,791,691 | 9 | 0 | 0 | 0 |
11 | 114,223,577 | 117,570,851 | 17 | 1 | 1 | 0 |
*NCBI37/hg19.
†Variants that were not previously identified in dbsnp (build 131) and 1,000 genomes project databases and among 2,400 exomes of European subjects sequenced at Yale.