Table 1.
OH III:3 | OH III:4 | OH IV:1 | |
---|---|---|---|
% Coverage at 10X | 91 | 84 | 89.9 |
Total SNPs | 18494 | 17115 | 18662 |
Novel SNPs | 1302 | 1098 | 632 |
(+) pathogenic | 921 | 725 | 471 |
(+) homozygous | 60 | 120 | 42 |
(+) chromosome 19q13.12-19q13.2 | 3 | 2 | 3 |
(+) shared by other 2 affected | 2 | 2 | 2 |