| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S4049 | splice_acceptor_variant | ELN | NM_000501.4:c.572-1G>A | A | non-isolated CHD: PPS, VSD |
| S4050 | splice_acceptor_variant | ELN | NM_000501.4:c.572-1G>A | A | isolated CHD: SVAS |
| S4051 | splice_acceptor_variant | ELN | NM_000501.4:c.572-1G>A | A | non-isolated CHD: SVAS, PPS |