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| Sample | Cardiac defects | REPD | SOX7 | GATA4 |
| Father | None | − | n | n |
| Mother | None | − | n | n |
| Child | DORV,ASD,VSD,PS,etc | − | + | n |
| patient 1 | TOF | − | + | n |
| patient 2 | SV | − | + | n |
| general people in DGV | none | −/+ | n | n |
| patients in DECIPHER | ASD,VSD,PS,etc | −/+ | −/+ | −/+ |
+: duplication, −: deletion, n: normal. Losing or gain in the whole segments leads to diseases. REPD variations may not leads to diseases but impacts SOX7 which is related to CHD.
