ID Type Gene/Location Detail CHD Type
V0049 Small Variation CBS NM_000071.2:c.844_845ins68 isolated CHD: NA
V0179 Small Variation NKX2-5 NM_004387.4:c.762delC isolated CHD: ASDII, AV block II
V0388 Small Variation TLL1 NM_001204760.2:c.60_61insA isolated CHD: ASD
V0932 Small Variation NKX2-5 NM_004387.4:c.(616delG) isolated CHD: ASD
V1068 Small Variation CFC1 NM_032545.3:c.563_574delACCGCCTCCTGC isolated CHD: DORV
V1082 Small Variation CFC1 NM_032545.3:c.563_574delACCGCCTCCTGC isolated CHD: DORV
V1109 Small Variation NKX2-5 NM_004387.4:c.112delG isolated CHD: ASD
V1111 Small Variation NKX2-5 NM_004387.4:c.112delG non-isolated CHD: DORV, TOF, CoA, VSD, ASD, PLSVC
V1112 Small Variation NKX2-5 NM_004387.4:c.112delG non-isolated CHD: VSD, ASD
V1136 Small Variation NOTCH1 NM_017617.5:c.2643delC isolated CHD: AVS
V1137 Small Variation NOTCH1 NM_017617.5:c.2643delC non-isolated CHD: BAV, AVS
V1138 Small Variation NOTCH1 NM_017617.5:c.2643delC non-isolated CHD: PA, IVS, TA, HRV, ASDII, PDA
V1142 Small Variation NOTCH1 NM_017617.5:c.4240delT non-isolated CHD: AVS, TAA
V1143 Small Variation NOTCH1 NM_017617.5:c.7455dupC non-isolated CHD: BAV, PVS
V1144 Small Variation NOTCH1 NM_017617.5:c.7455dupC isolated CHD: TA
V1148 Small Variation NOTCH1 NM_017617.5:c.2425delG non-isolated CHD: BAV, AVS, MVS
V1218 Small Variation NKX2-5 NM_004387.4:c.403delA isolated CHD: ASD/VSD/PDA/PS/TOF/AS
V1220 Small Variation GATA4 NM_001308093.1:c.363delC isolated CHD: ASD/VSD/PDA/PS/TOF/AS
V1290 Small Variation CNOT1 NM_016284.5:c.4629delT isolated CHD: PFO
V1296 Small Variation CNOT1 NM_016284.5:c.4629delT isolated CHD: ASD
V1786 Small Variation CSRP1 NM_004078.3:c.447_460dupTGGCAAAGGCCTTG non-isolated CHD: ASD, PS
V1787 Small Variation CSRP1 NM_004078.3:c.447_460dupTGGCAAAGGCCTTG isolated CHD: ASD
V2175 Small Variation MIB1 NM_020774.3:c.933_934insAA non-isolated CHD: ASD, PS
V2180 Small Variation NODAL NM_018055.5:c.123_142dup isolated CHD: FSV
V2181 Small Variation CFC1 NM_032545.3:c.522del isolated CHD: FSV
V2182 Small Variation NOTCH1 NM_017617.5:c.6105del isolated CHD: MOT
V2183 Small Variation INVS NM_014425.5:c.3182dup isolated CHD: FSV
V2203 Small Variation ELN NM_000501.4:c.370delT isolated CHD: SVAS
V2204 Small Variation ELN NM_000501.4:c.370delT isolated CHD: SVAS
V2206 Small Variation ELN NM_000501.4:c.218_219insTG non-isolated CHD: SVAS, PPS
V2230 Small Variation SOX17 NM_022454.4:c.1203delC isolated CHD: ASD
V2231 Small Variation SOX17 NM_022454.4:c.489_510del isolated CHD: ASD
V2232 Small Variation SOX17 NM_022454.4:c.344delG isolated CHD: ASD
V2250 Small Variation PCDHGA4 NM_018917.4:c.1187delT isolated CHD: ASD