TABLE 3.
The number of samples with potentially damaging HA variants and the number of unique samples (not seen with potentially damaging HA variants) with potentially damaging CH variants after filtering with 1000GP data.
| Disease | Total samples in study | Total samples with HA variants after filtering with 1000GP data | Unique samples with CH variants after filtering with 1000GP data | Percent increase in the number of samples |
| Adolescent idiopathic scoliosis | 16 | 4 | 1 | 25 |
| Congenital heart defects | 709 | 129 | 11 | 8.5 |
| Disorders of sex development | 79 | 18 | 2 | 11.1 |
| Ewing sarcoma | 287 | 37 | 7 | 18.9 |
| Neuroblastoma | 259 | 36 | 5 | 13.9 |
| Orofacial cleft | 105 | 13 | 3 | 23.1 |
| Syndromic cranial dysinnervation | 172 | 27 | 6 | 22.2 |