| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S0478 | missense_variant | NKX2-5 | NM_004387.4:c.569G>T | T | isolated CHD: ASDII, AV block |
| S0479 | missense_variant | NKX2-5 | NM_004387.4:c.569G>T | T | isolated CHD: ASDII, AV block |
| S0480 | frameshift_variant | NKX2-5 | NM_004387.4:c.762delC | del | isolated CHD: ASDII, AV block II |