Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350748.2:c.4420A>T | 1 | |||
| NM_001350748.2:c.4503A>C | 1 | |||
| NM_001350748.2:c.4042-50CT[5] | 1 | |||
| NM_001350748.2:c.3657T>C | 1 | |||
| NM_001350748.2:c.1764+21dup | 1 | |||
| NM_001350748.2:c.1593C>T | 1 |