| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S2482 | missense_variant | MTHFR | NM_005957.5:c.677T>C | C/C | isolated CHD: CHD with PAH |
| S2483 | missense_variant | MTHFR | NM_005957.5:c.677T>C | C/T | isolated CHD: CHD with PAH |
| S2484 | missense_variant | MTHFR | NM_005957.5:c.677T>C | T/T | isolated CHD: CHD with PAH |