|
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 |