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