Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000551.3:c.340+1G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 193300.1.2 | Kuwait | Male | Yes | No | Brother of 193300.1.1 | |
| 193300.1.3 | Kuwait | Male | Yes | No | Brother of 193300.1.1 | |
| 193300.1.4 | Kuwait | Female | Yes | No | Sister of 193300.1.1 |