ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0913 | Small Variation | ELN | NM_000501.4:c.950-3C>G | isolated CHD: SVAS |
V1149 | Small Variation | NOTCH1 | NM_017617.5:c.1904-2A>G | non-isolated CHD: BAV, AVS |
V1150 | Small Variation | NOTCH1 | NM_017617.5:c.1904-2A>G | non-isolated CHD: TOF, rDA |