ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0170 | Small Variation | NODAL | NM_018055.5:c.892-1G>C | non-isolated CHD: TGA, IVS |
V1125 | Small Variation | NOTCH1 | NM_017617.5:c.3511-2A>G | non-isolated CHD: AVS, AVR, PVS |
V1127 | Small Variation | NOTCH1 | NM_017617.5:c.3511-2A>G | isolated CHD: BAV |
V2205 | Small Variation | ELN | NM_000501.4:c.572-1G>A | non-isolated CHD: PPS, VSD |
V2289 | Small Variation | PKP2 | NM_004572.3:c.2146-1G>C | non-isolated CHD: AVS, HAA |