ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0790 | Small Variation | ISL1 | NM_002202.3:c.219-3C>T | isolated CHD: TOF |
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 |
V1804 | Small Variation | CELA1 | NC_000012.12:g.51346625T>G | isolated CHD: TOF |