Table 2.
Individuals (affected and unaffected) in the family with or without the ARHGAP29 p.Ser552Pro variant
| Individual identification | Relationship Status | ARHGAP29:NM_004815.3: exon15:c.1654T>C | Status | Types of cleft palate |
|---|---|---|---|---|
| A_2 | Father | TC | Affected | CPO (soft) |
| A_3 | Mother | TT | Unaffected | |
| A_4 | Sibling | TC | Affected | CPO (soft) |
| A_1 | Child | TC | Affected | CPO (hard and soft) |
| A_7 | Paternal grand mother | TT | Unaffected | |
| A_6 | Paternal grand father | TC | Affected | CPO (hard and soft) |
| A_14 | Paternal second cousin | TC | Affected | CPO (hard and soft) |
| A_12 | Paternal grand uncle | TT | Unaffected | |
| CEPH1463_2 unrelated control | Unrelated control | TT | CEPH | |
| A_13 | Grandaunt | TC | Affected | CPO (soft) |
| A_5 | Uncle | TC | Affected | CPO (soft) |
| A_17 | Sibling | TT | Unaffected | |
| A_18 | Sibling | TC | Unaffected |