| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S1994 | missense_variant | CRELD1 | NM_015513.5:c.(985C>T) | T | isolated CHD: AVSD |
| S1996 | missense_variant | CRELD1 | NM_015513.5:c.(985C>T) | T | isolated CHD: AVSD |
| S2002 | missense_variant | CRELD1 | NM_015513.5:c.(985C>T) | T | isolated CHD: AVSD |