|
V0004 |
Small Variation |
HOXC9 |
NM_006897.3:c.564C>T |
isolated CHD: VSD |
|
V0005 |
Small Variation |
PLAGL1 |
NM_001080951.3:c.486A>G |
isolated CHD: VSD |
|
V0017 |
Small Variation |
HOXA1 |
NM_005522.4:c.210C>T |
isolated CHD: VSD |
|
V0018 |
Small Variation |
HOXA1 |
NM_005522.4:c.861T>A |
isolated CHD: VSD |
|
V0036 |
Small Variation |
NKX2-5 |
NM_004387.4:c.171C>G |
isolated CHD: ASD |
|
V0061 |
Small Variation |
GATA4 |
NM_002052.5:c.216C>G |
isolated CHD: TOF |
|
V0083 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
isolated CHD: TOF |
|
V0084 |
Small Variation |
GATA4 |
NM_002052.5:c.579C>G |
non-isolated CHD: SV, ASD |
|
V0085 |
Small Variation |
GATA4 |
NM_002052.5:c.699G>A |
non-isolated CHD: TOF, PA |
|
V0086 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: TOF, PA |
|
V0087 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
isolated CHD: DORV |
|
V0088 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
isolated CHD: TOF |
|
V0089 |
Small Variation |
GATA4 |
NM_002052.5:c.1023T>C |
isolated CHD: TOF |
|
V0091 |
Small Variation |
GATA4 |
NM_002052.5:c.1023T>C |
isolated CHD: DORV |
|
V0092 |
Small Variation |
GATA4 |
NM_002052.5:c.1122C>T |
isolated CHD: ASD |
|
V0093 |
Small Variation |
GATA4 |
NM_002052.5:c.1164G>A |
isolated CHD: VSD |
|
V0097 |
Small Variation |
GATA4 |
NM_002052.5:c.13T>C |
non-isolated CHD: TOF, PA |
|
V0098 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: TA |
|
V0099 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
isolated CHD: ASD |
|
V0111 |
Small Variation |
GATA4 |
NM_002052.5:c.723C>T |
isolated CHD: NA |
|
V0114 |
Small Variation |
GATA4 |
NM_002052.5:c.975G>A |
isolated CHD: ASD |
|
V0119 |
Small Variation |
GATA4 |
NM_002052.5:c.1326G>A |
isolated CHD: VSD |
|
V0120 |
Small Variation |
GATA4 |
NM_002052.5:c.78A>T |
isolated CHD: NA |
|
V0131 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V0132 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V0133 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: AVSD |
|
V0134 |
Small Variation |
NKX2-5 |
NM_004387.4:c.543G>A |
isolated CHD: ASD |
|
V0135 |
Small Variation |
NKX2-5 |
NM_004387.4:c.852C>G |
isolated CHD: ASD |
|
V0138 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD/VSD/TOF/TAPVC/ECD/D-TGA |
|
V0139 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
NA: NA |
|
V0143 |
Small Variation |
GATA4 |
NM_002052.5:c.15G>A |
non-isolated CHD: TOF, PA |
|
V0155 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.453A>G |
NA: NA |
|
V0176 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
NA: NA |
|
V0186 |
Small Variation |
GATA6 |
NM_005257.5:c.768G>T |
NA: NA |
|
V0187 |
Small Variation |
GATA6 |
NM_005257.5:c.855G>T |
NA: NA |
|
V0194 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: VSD |
|
V0195 |
Small Variation |
GATA4 |
NM_001308093.1:c.744C>T |
isolated CHD: VSD |
|
V0206 |
Small Variation |
HAND2 |
NM_021973.3:c.42C>T |
non-isolated CHD: TOF, ASD |
|
V0211 |
Small Variation |
HAND2 |
NM_021973.3:c.153C>G |
NA: NA |
|
V0216 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: ASD |
|
V0217 |
Small Variation |
GATA4 |
NM_002052.5:c.699G>A |
non-isolated CHD: DORV, PFO |
|
V0218 |
Small Variation |
GATA4 |
NM_002052.5:c.723C>T |
non-isolated CHD: TGA, VSD, ASD |
|
V0219 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: L-TGA, VSD, ASD |
|
V0220 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: VSD, PFO, AR |
|
V0221 |
Small Variation |
GATA4 |
NM_002052.5:c.1227C>T |
non-isolated CHD: VSD, CoA, PDA |
|
V0226 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V0227 |
Small Variation |
GATA4 |
NM_002052.5:c.348C>T |
isolated CHD: ASD |
|
V0228 |
Small Variation |
GATA4 |
NM_002052.5:c.405C>G |
non-isolated CHD: TOF, ASD, VSD |
|
V0229 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
non-isolated CHD: TGA, VSD |
|
V0231 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: NA |
|
V0236 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CoA/AS/AVSD/DORV/D-TGA/PDA/PS/ASD/TOF/VSD/SV |
|
V0237 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: CoA/AS/AVSD/DORV/D-TGA/PDA/PS/ASD/TOF/VSD/SV |
|
V0247 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V0249 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: TOF |
|
V0250 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V0251 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: TOF |
|
V0273 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TGA |
|
V0276 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TGA |
|
V0278 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: HLHS |
|
V0282 |
Small Variation |
HAND1 |
NM_004821.3:c.468T>G |
isolated CHD: HLHS |
|
V0284 |
Small Variation |
HAND1 |
NM_004821.3:c.162G>A |
isolated CHD: HLHS |
|
V0285 |
Small Variation |
HAND1 |
NM_004821.3:c.531G>C |
isolated CHD: HLHS |
|
V0286 |
Small Variation |
GATA4 |
NM_002052.5:c.1113A>G |
isolated CHD: HLHS |
|
V0362 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V0363 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V0369 |
Small Variation |
GATA5 |
NM_080473.5:c.609C>T |
isolated CHD: BAV |
|
V0371 |
Small Variation |
GATA5 |
NM_080473.5:c.852G>A |
isolated CHD: BAV |
|
V0373 |
Small Variation |
GATA5 |
NM_080473.5:c.981G>C |
isolated CHD: BAV |
|
V0374 |
Small Variation |
GATA5 |
NM_080473.5:c.1128A>G |
isolated CHD: BAV |
|
V0412 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: TOF |
|
V0420 |
Small Variation |
GATA4 |
NM_002052.5:c.1308C>T |
isolated CHD: VSD |
|
V0421 |
Small Variation |
GATA4 |
NM_002052.5:c.1326G>A |
isolated CHD: PDA |
|
V0423 |
Small Variation |
GATA4 |
NM_002052.5:c.63A>G |
isolated CHD: PDA |
|
V0424 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V0501 |
Small Variation |
GATA4 |
NM_001308093.1:c.132G>T |
isolated CHD: VSD |
|
V0502 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
non-isolated CHD: VSD, PAH |
|
V0505 |
Small Variation |
GATA4 |
NM_001308093.1:c.678G>A |
isolated CHD: VSD |
|
V0506 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: VSD |
|
V0507 |
Small Variation |
GATA4 |
NM_001308093.1:c.744C>T |
non-isolated CHD: ASD, VSD |
|
V0509 |
Small Variation |
GATA4 |
NM_001308093.1:c.975G>A |
isolated CHD: ASD |
|
V0513 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: ASD |
|
V0522 |
Small Variation |
GATA4 |
NM_001308093.1:c.799G>A |
non-isolated CHD: VSD, PS |
|
V0523 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
non-isolated CHD: ASD, VSD, PDA, other |
|
V0559 |
Small Variation |
SMAD7 |
NM_005904.3:c.1172C>T |
isolated CHD: NA |
|
V0561 |
Small Variation |
SMAD7 |
NM_005904.3:c.108G>A |
isolated CHD: NA |
|
V0562 |
Small Variation |
SMAD7 |
NM_005904.3:c.147G>A |
isolated CHD: NA |
|
V0563 |
Small Variation |
SMAD7 |
NM_005904.3:c.183C>T |
isolated CHD: NA |
|
V0564 |
Small Variation |
SMAD7 |
NM_005904.3:c.312G>A |
isolated CHD: NA |
|
V0565 |
Small Variation |
SMAD7 |
NM_005904.3:c.894C>T |
isolated CHD: NA |
|
V0566 |
Small Variation |
SMAD7 |
NM_005904.3:c.951C>T |
isolated CHD: NA |
|
V0567 |
Small Variation |
SMAD7 |
NM_005904.3:c.1062G>A |
isolated CHD: NA |
|
V0568 |
Small Variation |
SMAD7 |
NM_005904.3:c.1122G>A |
isolated CHD: NA |
|
V0569 |
Small Variation |
SMAD7 |
NM_005904.3:c.1173G>A |
isolated CHD: NA |
|
V0570 |
Small Variation |
SMAD7 |
NM_005904.3:c.1206C>G |
isolated CHD: NA |
|
V0571 |
Small Variation |
SMAD7 |
NM_005904.3:c.1218C>T |
isolated CHD: NA |
|
V0573 |
Small Variation |
SMAD7 |
NM_005904.3:c.894C>T |
isolated CHD: NA |
|
V0574 |
Small Variation |
SMAD7 |
NM_005904.3:c.1206C>G |
isolated CHD: NA |
|
V0575 |
Small Variation |
SMAD7 |
NM_005904.3:c.894C>T |
isolated CHD: SD |
|
V0576 |
Small Variation |
SMAD7 |
NM_005904.3:c.1206C>G |
isolated CHD: SD |
|
V0578 |
Small Variation |
MESP1 |
NM_018670.3:c.147C>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0579 |
Small Variation |
MESP1 |
NM_018670.3:c.153C>A |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0582 |
Small Variation |
MESP1 |
NM_018670.3:c.174A>C |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0584 |
Small Variation |
MESP1 |
NM_018670.3:c.204C>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0585 |
Small Variation |
MESP1 |
NM_018670.3:c.357C>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0586 |
Small Variation |
MESP1 |
NM_018670.3:c.393C>G |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0587 |
Small Variation |
MESP1 |
NM_018670.3:c.528A>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0588 |
Small Variation |
MESP1 |
NM_018670.3:c.657G>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0589 |
Small Variation |
MESP1 |
NM_018670.3:c.663G>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0591 |
Small Variation |
MESP1 |
NM_018670.3:c.687T>G |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V0736 |
Small Variation |
GATA6 |
NM_005257.5:c.72G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V0780 |
Small Variation |
GATA4 |
NM_001308093.1:c.699G>A |
isolated CHD: TOF |
|
V0786 |
Small Variation |
GATA4 |
NM_001308093.1:c.1164G>A |
isolated CHD: TOF |
|
V0798 |
Small Variation |
TBX20 |
NM_001077653.2:c.81C>T |
isolated CHD: TOF |
|
V0871 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
NA: Septa and valve abnormalities |
|
V0889 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
isolated CHD: ASD |
|
V0890 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
isolated CHD: VSD |
|
V0891 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
non-isolated CHD: ASD, VSD |
|
V0892 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
isolated CHD: ASD |
|
V0893 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
isolated CHD: VSD |
|
V0894 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
non-isolated CHD: ASD, VSD |
|
V0948 |
Small Variation |
VEGFA |
NM_003376.6:c.534C>T |
isolated CHD: TOF |
|
V0961 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: ASD |
|
V0962 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: VSD |
|
V0963 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: TOF |
|
V0964 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: SV |
|
V1036 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V1037 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
|
V1038 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
V1039 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V1040 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
|
V1041 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
V1042 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V1043 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
|
V1045 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: ASD |
|
V1046 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V1047 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V1049 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1067 |
Small Variation |
CFC1 |
NM_032545.3:c.461C>T |
isolated CHD: TGA |
|
V1081 |
Small Variation |
CFC1 |
NM_032545.3:c.461C>T |
isolated CHD: TGA |
|
V1155 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD/non-isolated CHD: NA |
|
V1156 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: NA |
|
V1187 |
Small Variation |
BMPR2 |
NM_001204.7:c.711G>A |
isolated CHD/non-isolated CHD: PVD |
|
V1217 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD/VSD/PDA/PS/TOF/AS |
|
V1222 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
NA: NA |
|
V1232 |
Small Variation |
NFATC1 |
NM_006162.5:c.786T>G |
isolated CHD/non-isolated CHD: NA |
|
V1256 |
Small Variation |
BCL-6 |
NM_001706.5:c.1161C>T |
isolated CHD/non-isolated CHD: NA |
|
V1312 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
isolated CHD: DORV |
|
V1313 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
isolated CHD: TOF |
|
V1314 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
non-isolated CHD: PA, IVS |
|
V1315 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
non-isolated CHD: PA, VSD |
|
V1316 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
isolated CHD: TGA |
|
V1317 |
Small Variation |
GATA4 |
NM_001308093.1:c.330C>T |
isolated CHD: IAA |
|
V1318 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: TOF |
|
V1319 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
non-isolated CHD: PA, VSD |
|
V1320 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
non-isolated CHD: SA, SV |
|
V1321 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: TGA |
|
V1322 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
non-isolated CHD: PA, VSD |
|
V1323 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: DORV |
|
V1324 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
isolated CHD: TOF |
|
V1325 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
non-isolated CHD: PA, VSD |
|
V1326 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
non-isolated CHD: PA, IVS |
|
V1327 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
isolated CHD: DORV |
|
V1328 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
non-isolated CHD: SA, SV |
|
V1329 |
Small Variation |
GATA4 |
NM_001308093.1:c.99G>T |
isolated CHD: TGA |
|
V1330 |
Small Variation |
GATA4 |
NM_001308093.1:c.732C>T |
isolated CHD: TGA |
|
V1338 |
Small Variation |
GATA4 |
NM_001308093.1:c.799G>A |
isolated CHD: IAA |
|
V1339 |
Small Variation |
GATA4 |
NM_001308093.1:c.799G>A |
isolated CHD: TGA |
|
V1340 |
Small Variation |
GATA4 |
NM_001308093.1:c.799G>A |
non-isolated CHD: SA, SV |
|
V1373 |
Small Variation |
IRX1 |
NM_024337.4:c.718C>G |
non-isolated CHD: TGA, ASD |
|
V1439 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD/ASD/PDA/PS/AS |
|
V1442 |
Small Variation |
IRX4 |
NM_016358.3:c.90A>C |
isolated CHD: HLHS |
|
V1443 |
Small Variation |
JAG1 |
NM_000214.3:c.3528C>T |
isolated CHD: HLHS |
|
V1444 |
Small Variation |
JAG1 |
NM_000214.3:c.3417T>C |
isolated CHD: HLHS |
|
V1445 |
Small Variation |
JAG1 |
NM_000214.3:c.2214A>C |
isolated CHD: HLHS |
|
V1446 |
Small Variation |
JAG1 |
NM_000214.3:c.924C>T |
isolated CHD: HLHS |
|
V1447 |
Small Variation |
JAG1 |
NM_000214.3:c.765C>T |
isolated CHD: HLHS |
|
V1448 |
Small Variation |
JAG1 |
NM_000214.3:c.744A>G |
isolated CHD: HLHS |
|
V1449 |
Small Variation |
JAG1 |
NM_000214.3:c.267G>A |
isolated CHD: HLHS |
|
V1450 |
Small Variation |
KMT2D |
NM_003482.3:c.13689C>T |
isolated CHD: HLHS |
|
V1451 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
isolated CHD: HLHS |
|
V1452 |
Small Variation |
KMT2D |
NM_003482.3:c.12510A>G |
isolated CHD: HLHS |
|
V1454 |
Small Variation |
KMT2D |
NM_003482.3:c.9729C>T |
isolated CHD: HLHS |
|
V1455 |
Small Variation |
KMT2D |
NM_003482.3:c.7479G>T |
isolated CHD: HLHS |
|
V1456 |
Small Variation |
KMT2D |
NM_003482.3:c.2826C>T |
isolated CHD: HLHS |
|
V1458 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: HLHS |
|
V1459 |
Small Variation |
NOTCH1 |
NM_017617.5:c.6555C>T |
isolated CHD: HLHS |
|
V1460 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5853C>T |
isolated CHD: HLHS |
|
V1461 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5094C>T |
isolated CHD: HLHS |
|
V1464 |
Small Variation |
NOTCH1 |
NM_017617.5:c.2265T>C |
isolated CHD: HLHS |
|
V1465 |
Small Variation |
NOTCH1 |
NM_017617.5:c.312T>C |
isolated CHD: HLHS |
|
V1466 |
Small Variation |
NOTCH2 |
NM_024408.4:c.7341T>A |
isolated CHD: HLHS |
|
V1470 |
Small Variation |
PTCH1 |
NM_000264.5:c.3531C>T |
isolated CHD: HLHS |
|
V1471 |
Small Variation |
PTCH1 |
NM_000264.5:c.1686C>T |
isolated CHD: HLHS |
|
V1472 |
Small Variation |
PTCH1 |
NM_000264.5:c.1665T>C |
isolated CHD: HLHS |
|
V1473 |
Small Variation |
HEY2 |
XM_017010627.1:c.450G>C |
isolated CHD: HLHS |
|
V1474 |
Small Variation |
TBX2 |
NM_005994.4:c.366C>A |
isolated CHD: HLHS |
|
V1475 |
Small Variation |
TBX2 |
NM_005994.4:c.1827C>T |
isolated CHD: HLHS |
|
V1476 |
Small Variation |
HUWE1 |
NM_031407.7:c.12177T>C |
isolated CHD: HLHS |
|
V1478 |
Small Variation |
IRX4 |
NM_016358.3:c.1431C>T |
isolated CHD: HLHS |
|
V1479 |
Small Variation |
IRX4 |
NM_016358.3:c.1203G>A |
isolated CHD: HLHS |
|
V1480 |
Small Variation |
IRX4 |
NM_016358.3:c.381A>G |
isolated CHD: HLHS |
|
V1483 |
Small Variation |
NKX2-5 |
NM_004387.4:c.618C>T |
isolated CHD: ASD, AV block |
|
V1487 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V1488 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
|
V1490 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: ASD |
|
V1491 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V1492 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V1494 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1567 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
NA: NA |
|
V1574 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD/VSD/TOF/TAPVC/ECD/D-TGA |
|
V1575 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
NA: NA |
|
V1596 |
Small Variation |
NFATC1 |
NM_006162.5:c.786T>G |
isolated CHD/non-isolated CHD: NA |
|
V1617 |
Small Variation |
BCL-6 |
NM_001706.5:c.1161C>T |
isolated CHD/non-isolated CHD: NA |
|
V1620 |
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
NA: NA |
|
V1625 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD/non-isolated CHD: NA |
|
V1626 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: NA |
|
V1661 |
Small Variation |
VEGFA |
NM_001025366.3:c.405G>C |
isolated CHD/non-isolated CHD: NA |
|
V1685 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V1686 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
|
V1687 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
V1688 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V1689 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
|
V1690 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
V1714 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD/ASD/PDA/PS/AS |
|
V1739 |
Small Variation |
NRP1 |
NM_003873.6:c.1161C>T |
isolated CHD: TOF |
|
V1740 |
Small Variation |
NRP1 |
NM_003873.6:c.60C>T |
isolated CHD: TOF |
|
V2112 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V2116 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V2122 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V2128 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: SV |
|
V2156 |
Small Variation |
HOXB1 |
NM_002144.4:c.154C>T |
isolated CHD: DORV |
|
V2157 |
Small Variation |
HOXB1 |
NM_002144.4:c.154C>T |
isolated CHD: Pm VSD |
|
V2158 |
Small Variation |
HOXB1 |
NM_002144.4:c.237C>T |
isolated CHD: DORV |
|
V2159 |
Small Variation |
HOXB1 |
NM_002144.4:c.237C>T |
isolated CHD: Pm VSD |
|
V2160 |
Small Variation |
HOXB1 |
NM_002144.4:c.246G>A |
isolated CHD: DORV |
|
V2161 |
Small Variation |
HOXB1 |
NM_002144.4:c.246G>A |
isolated CHD: Pm VSD |
|
V2162 |
Small Variation |
HOXB1 |
NM_002144.4:c.246G>A |
isolated CHD: Pm VSD |
|
V2166 |
Small Variation |
HOXB1 |
NM_002144.4:c.450G>A |
isolated CHD: DORV |
|
V2167 |
Small Variation |
HOXB1 |
NM_002144.4:c.450G>A |
isolated CHD: Pm VSD |
|
V2168 |
Small Variation |
HOXB1 |
NM_002144.4:c.450G>A |
isolated CHD: Pm VSD |
|
V2170 |
Small Variation |
NKX2-5 |
NM_004387.4:c.93A>T |
non-isolated CHD: TOF, VSD |
|
V2171 |
Small Variation |
NKX2-5 |
NM_004387.4:c.543G>A |
isolated CHD: VSD |
|
V2172 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
|
V2209 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V2210 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V2211 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
non-isolated CHD: ASD, VSD |
|
V2212 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
|
V2213 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: PS |
|
V2214 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
non-isolated CHD: TAPVC, ASD |
|
V2215 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: D-TGA |
|
V2216 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: DCRV |
|
V2217 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: CAVC |
|
V2218 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V2219 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
non-isolated CHD: ASD, VSD |
|
V2220 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
non-isolated CHD: DCRV, VSD |
|
V2221 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V2222 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: TOF |
|
V2224 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD/non-isolated CHD: NA |
|
V2225 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: NA |
|
V2226 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD/non-isolated CHD: NA |
|
V2238 |
Small Variation |
HOXB1 |
NM_002144.4:c.154C>T |
isolated CHD: DORV |
|
V2239 |
Small Variation |
HOXB1 |
NM_002144.4:c.154C>T |
isolated CHD: Pm VSD |
|
V2240 |
Small Variation |
HOXB1 |
NM_002144.4:c.237C>T |
isolated CHD: DORV |
|
V2241 |
Small Variation |
HOXB1 |
NM_002144.4:c.237C>T |
isolated CHD: Pm VSD |
|
V2242 |
Small Variation |
HOXB1 |
NM_002144.4:c.246G>A |
isolated CHD: DORV |
|
V2243 |
Small Variation |
HOXB1 |
NM_002144.4:c.246G>A |
isolated CHD: Pm VSD |
|
V2246 |
Small Variation |
HOXB1 |
NM_002144.4:c.450G>A |
isolated CHD: DORV |
|
V2247 |
Small Variation |
HOXB1 |
NM_002144.4:c.450G>A |
isolated CHD: Pm VSD |
|
V2273 |
Small Variation |
GATA4 |
NM_002052.5:c.27C>A |
non-isolated CHD: LV, PDA |
|
V2274 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: ASD, VSD |
|
V2275 |
Small Variation |
GATA4 |
NM_002052.5:c.1233G>A |
isolated CHD: ASD |
|
V2276 |
Small Variation |
GATA4 |
NM_002052.5:c.1263C>T |
isolated CHD: VSD |
|
V2384 |
Small Variation |
CBS |
NM_000071.3:c.699C>T |
NA: NA |
|
V2478 |
Small Variation |
BVES |
NM_147147.3:c.195T>C |
isolated CHD: TOF |
|
V2479 |
Small Variation |
BVES |
NM_147147.3:c.385C>T |
isolated CHD: TOF |
|
V2480 |
Small Variation |
BVES |
NM_147147.3:c.1068C>T |
isolated CHD: TOF |