| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S4216 | missense_variant | EGLN1 | NM_022051.2:c.380G>C | C | isolated CHD: TOF/DORV/PTA/TGA/AVSD(combined with collateral vessel) |
| S4217 | missense_variant | EGLN1 | NM_022051.2:c.380G>C | G/G | isolated CHD: TOF/DORV/PTA/TGA/AVSD(combined with collateral vessel) |