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