Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002458.2:c.14936T>C | 1 | |||
| NM_002458.2:c.16738G>A | 1 | |||
| NM_017950.4:c.1520A>T | 1 | |||
| NM_203447.4:c.3220C>A | 1 | |||
| NM_005518.4:c.1124C>T | 1 | |||
| NM_005518.4:c.754A>G | 1 | |||
| NM_000017.4:c.625G>A | 1 | |||
| NM_000388.3:c.1861G>A | 1 | |||
| NM_003611.3:c.1469A>G | 1 |