Table 2 Summary of rare damaging variants in each family.
From: Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
Family ID | Patient ID | #Variants | #Variants shared (LOF)a | #2-Hitsb | #X-linked | #Heterozygotes |
|---|---|---|---|---|---|---|
1 | II.2 | 154 | 57 (8) | 0 | NAc | 3 |
III.3 | 153 | |||||
2 | II.5 | 130 | 68 (6) | 0 | NA | 0 |
II.4 | 155 | |||||
3 | III.1 | 198 | 15 (3) | 0 | 0 | NA |
III.2 | 209 | |||||
4 | II.2 | 174 | 10 (1) | 0 | NA | NA |
II.8 | 139 | |||||
5 | II.1 | 135 | 53 (1) | 0 | NA | 20 |
I.2 | 149 | |||||
6 | II.1 | 136 | 48 (2) | 0 | 0 | Paternal DNA not available |
II.2 | 134 | |||||
7 | III.1 | 208 | 2 (0) | 0 | NA | NA |
IV.1 | 150 | |||||
8 | II.1 | 179 | 90 (11) | 1 | 0 | 0 |
II.2 | 150 |
