Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020547.3:c.762C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261550.3.2 | Jordan | Female | Yes | No | Sister of 261550.3.1 | |
| 261550.3.3 | Jordan | Female | Yes | No | Sister of 261550.3.1 | |
| 261550.3.4 | Jordan | Female | Yes | No | Sister of 261550.3.1 | |
| 261550.3.5 | Jordan | Male | Yes | Father of 261550.3.1 | ||
| 261550.3.6 | Jordan | Female | Yes | Mother of 261550.3.1 |