V0002 |
Small Variation |
MYOCD |
NM_001146312.2:c.776A>G |
NA: NA |
V0009 |
Small Variation |
HBG1 |
NM_000559.2:c.202G>A |
NA: C-CHD |
V0010 |
Small Variation |
TBX20 |
NM_001077653.2:c.774T>C |
isolated CHD/non-isolated CHD: NA |
V0011 |
Small Variation |
CFC1 |
NM_032545.3:c.(232C>T) |
isolated CHD: ASD |
V0012 |
Small Variation |
CFC1 |
NM_032545.3:c.(433G>A) |
isolated CHD: ASD |
V0013 |
Small Variation |
CFC1 |
NM_032545.3:c.(433G>A) |
non-isolated CHD: PA, ASD, TVD |
V0021 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PVS |
V0022 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS |
V0023 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: CoA |
V0024 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: AVS |
V0025 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TGA |
V0026 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TAPVC |
V0027 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: AVSD |
V0028 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
V0029 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
V0030 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: other |
V0031 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
V0033 |
Small Variation |
CFC1 |
NM_001270420.1:c.(232C>T) |
non-isolated CHD: DORV, PA, DI, SRV |
V0034 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
isolated CHD: ASD |
V0035 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
non-isolated CHD: ASD, HLHS |
V0044 |
Small Variation |
BMPR2 |
NM_001204.7:c.1509A>C |
non-isolated CHD: ASD, PAPVR, PDA |
V0045 |
Small Variation |
BMPR2 |
NM_001204.7:c.140G>A |
non-isolated CHD: AP window, VSD |
V0046 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
V0048 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: NA |
V0050 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
NA: NA |
V0051 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: ASD |
V0052 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: VSD |
V0053 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: PAD |
V0054 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: TOF |
V0055 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: other |
V0056 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: NA |
V0057 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD/VSD/AVSD/AC/AS/EA/PS/PDA/TOF |
V0064 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: ASD |
V0065 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: VSD |
V0066 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: PDA |
V0067 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: TOF/other |
V0068 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: NA |
V0069 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF/HLHS/TGA/VSD/AVS/ CoA/PS |
V0070 |
Small Variation |
TBX20 |
NM_001077653.2:c.456C>G |
isolated CHD: VSD |
V0071 |
Small Variation |
TBX20 |
NM_001077653.2:c.456C>G |
non-isolated CHD: PFO, P-LRBS |
V0072 |
Small Variation |
TBX20 |
NM_001077653.2:c.456C>G |
isolated CHD: ASD |
V0082 |
Small Variation |
GATA4 |
NM_002052.5:c.278G>C |
isolated CHD: ASD |
V0090 |
Small Variation |
GATA4 |
NM_002052.5:c.946C>G |
isolated CHD: ASD |
V0094 |
Small Variation |
GATA4 |
NM_002052.5:c.1232C>T |
isolated CHD: VSD |
V0095 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
V0096 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: TOF |
V0100 |
Small Variation |
GATA4 |
NM_002052.5:c.17C>T |
isolated CHD: VSD |
V0102 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
V0103 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: ECD |
V0106 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: VSD |
V0107 |
Small Variation |
GATA4 |
NM_002052.5:c.1075G>A |
isolated CHD: VSD |
V0108 |
Small Variation |
GATA4 |
NM_002052.5:c.1286G>C |
isolated CHD: VSD |
V0109 |
Small Variation |
GATA4 |
NM_002052.5:c.1325C>T |
isolated CHD: VSD |
V0110 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: NA |
V0117 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: NA |
V0121 |
Small Variation |
GATA4 |
NM_002052.5:c.91C>T |
isolated CHD: NA |
V0136 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
V0137 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: VSD |
V0145 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD/non-isolated CHD: NA |
V0146 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: ASD |
V0147 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: VSD |
V0148 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: PS |
V0149 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: PDA |
V0150 |
Small Variation |
SALL4 |
NM_020436.5:c.586C>T |
isolated CHD: VSD |
V0151 |
Small Variation |
SALL4 |
NM_020436.5:c.2389A>T |
isolated CHD: VSD |
V0152 |
Small Variation |
CFC1 |
NM_001270420.1:c.506G>T |
isolated CHD: ASD |
V0153 |
Small Variation |
CFC1 |
NM_001270420.1:c.506G>T |
non-isolated CHD: VSD, PAH |
V0154 |
Small Variation |
CFC1 |
NM_001270420.1:c.517G>A |
isolated CHD: ASD |
V0162 |
Small Variation |
ALDH1A2 |
NM_003888.4:c.451G>T |
isolated CHD: TOF |
V0163 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF |
V0164 |
Small Variation |
FOXH1 |
NM_003923.3:c.61C>T |
non-isolated CHD: TGA, IVS |
V0165 |
Small Variation |
ZIC3 |
NM_001330661.1:c.49G>T |
non-isolated CHD: TGA, IVS |
V0166 |
Small Variation |
ZIC3 |
NM_001330661.1:c.49G>T |
isolated CHD: VSD |
V0167 |
Small Variation |
NKX2-5 |
NM_004387.4:c.448G>A |
isolated CHD: VSD |
V0168 |
Small Variation |
CFC1 |
NM_001270420.1:c.61A>C |
non-isolated CHD: TGA, IVS |
V0169 |
Small Variation |
CFC1 |
NM_001270420.1:c.140G>A |
non-isolated CHD: TGA, IVS |
V0171 |
Small Variation |
GATA4 |
NM_002052.5:c.928A>G |
isolated CHD: ASD |
V0172 |
Small Variation |
GATA4 |
NM_002052.5:c.928A>G |
non-isolated CHD: ASD, PS |
V0173 |
Small Variation |
GATA4 |
NM_002052.5:c.270C>A |
NA: NA |
V0174 |
Small Variation |
GATA4 |
NM_002052.5:c.285C>G |
NA: NA |
V0175 |
Small Variation |
GATA4 |
NM_002052.5:c.987G>T |
NA: NA |
V0177 |
Small Variation |
NKX2-5 |
NM_004387.4:c.73C>T |
isolated CHD: HLHS |
V0178 |
Small Variation |
NKX2-5 |
NM_004387.4:c.569G>T |
isolated CHD: ASDII, AV block |
V0183 |
Small Variation |
GATA6 |
NM_005257.5:c.740C>T |
isolated CHD: U-AVSD |
V0184 |
Small Variation |
GATA6 |
NM_005257.5:c.799C>G |
isolated CHD: TOF |
V0188 |
Small Variation |
GATA6 |
NM_005257.5:c.43G>C |
NA: NA |
V0189 |
Small Variation |
CITED2 |
NM_001168388.2:c.550G>A |
non-isolated CHD: RAA, TOF, MID |
V0190 |
Small Variation |
CITED2 |
NM_001168388.2:c.574A>G |
isolated CHD: AS |
V0192 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS/TOF/DORV/TGV/EA/VSD/PS/ CoA/ASD |
V0193 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
isolated CHD: HLHS/TOF/DORV/TGV/EA/VSD/PS/ CoA/ASD |
V0196 |
Small Variation |
NKX2-5 |
NM_004387.4:c.769C>G |
isolated CHD: VSD |
V0197 |
Small Variation |
GATA4 |
NM_001308093.1:c.839C>T |
non-isolated CHD: ASD, PS |
V0199 |
Small Variation |
HAND2 |
NM_021973.3:c.32C>G |
isolated CHD: TOF |
V0203 |
Small Variation |
HAND2 |
NM_021973.3:c.107G>A |
isolated CHD: TOF |
V0204 |
Small Variation |
HAND2 |
NM_021973.3:c.107G>A |
non-isolated CHD: TOF, PDA |
V0205 |
Small Variation |
HAND2 |
NM_021973.3:c.247G>T |
non-isolated CHD: TOF, PA, PDA |
V0215 |
Small Variation |
GATA4 |
NM_002052.5:c.206G>A |
non-isolated CHD: VSD, PAPVC, PFO |
V0222 |
Small Variation |
GATA4 |
NM_002052.5:c.488C>G |
non-isolated CHD: VSD, DORV, PS |
V0223 |
Small Variation |
GATA4 |
NM_002052.5:c.1232C>T |
non-isolated CHD: VSD, PFO |
V0224 |
Small Variation |
GATA4 |
NM_002052.5:c.1232C>T |
isolated CHD: ASD |
V0225 |
Small Variation |
GATA4 |
NM_002052.5:c.1273C>T |
non-isolated CHD: VSD, IAA, ASD |
V0230 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
NA: C-CHD |
V0232 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TGA |
V0235 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: other |
V0238 |
Small Variation |
NKX2-5 |
NM_004387.4:c.848C>A |
non-isolated CHD: VSD, PDA, aorticisthmus stenosis |
V0239 |
Small Variation |
GATA4 |
NM_002052.5:c.62G>T |
isolated CHD: ASD |
V0240 |
Small Variation |
GATA4 |
NM_002052.5:c.62G>T |
non-isolated CHD: ASD, VSD |
V0241 |
Small Variation |
CRELD1 |
NM_001031717.3:c.985C>T |
isolated CHD: PPHT |
V0246 |
Small Variation |
NFATC1 |
NM_006162.5:c.(2251T>G) |
isolated CHD: valvulo septal defects |
V0248 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: TOF |
V0252 |
Small Variation |
HAND1 |
NM_004821.3:c.173C>A |
isolated CHD: TOF |
V0253 |
Small Variation |
IRX4 |
NM_001278632.1:c.253A>T |
isolated CHD: VSD |
V0254 |
Small Variation |
IRX4 |
NM_001278632.1:c.275A>G |
isolated CHD: VSD |
V0260 |
Small Variation |
NKX2-5 |
NM_004387.4:c.365T>C |
isolated CHD: ASD |
V0261 |
Small Variation |
MYH6 |
NM_002471.3:c.4328C>A |
isolated CHD: ASD |
V0262 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: PFO |
V0263 |
Small Variation |
MYH6 |
NM_002471.3:c.2098G>A |
isolated CHD: PFO |
V0264 |
Small Variation |
NKX2-5 |
NM_004387.4:c.694G>A |
isolated CHD: PVS |
V0265 |
Small Variation |
GATA4 |
NM_002052.5:c.1037C>T |
isolated CHD: TGA |
V0266 |
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: VSD |
V0267 |
Small Variation |
TBX5 |
NM_000192.3:c.331G>T |
non-isolated CHD: DORV, VSD, ASD, PDA |
V0268 |
Small Variation |
HAND1 |
NM_004821.3:c.217G>A |
isolated CHD: VSD |
V0269 |
Small Variation |
HAND1 |
NM_004821.3:c.456G>T |
isolated CHD: VSD |
V0277 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: TGA |
V0283 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: HLHS |
V0290 |
Small Variation |
GATA4 |
NM_002052.5:c.127C>T |
isolated CHD: VSD |
V0292 |
Small Variation |
GATA4 |
NM_002052.5:c.127C>T |
non-isolated CHD: VSD, ASD |
V0293 |
Small Variation |
GATA4 |
NM_002052.5:c.127C>T |
non-isolated CHD: VSD, PDA |
V0294 |
Small Variation |
NKX2-5 |
NM_004387.4:c.64C>A |
non-isolated CHD: ASD, PS, RVHP |
V0295 |
Small Variation |
NKX2-5 |
NM_004387.4:c.64C>A |
isolated CHD: ASD |
V0296 |
Small Variation |
NKX2-5 |
NM_004387.4:c.106C>A |
isolated CHD: VSD |
V0297 |
Small Variation |
NKX2-5 |
NM_004387.4:c.160G>A |
isolated CHD: TOF |
V0301 |
Small Variation |
DUSP6 |
NM_001946.4:c.253C>T |
isolated CHD: ASD |
V0302 |
Small Variation |
ANK3 |
NM_001149.3:c.2380G>T |
isolated CHD: ASD |
V0303 |
Small Variation |
SCRIB |
NM_015356.5:c.1720G>C |
isolated CHD: ASD |
V0304 |
Small Variation |
ADGRB2 |
NM_001294335.2:c.608G>T |
isolated CHD: ASD |
V0305 |
Small Variation |
AFAP1L2 |
NM_001001936.3:c.2174G>A |
isolated CHD: ASD |
V0306 |
Small Variation |
FARP2 |
NM_001282983.2:c.1174G>A |
isolated CHD: ASD |
V0307 |
Small Variation |
SEMA4G |
NM_001203244.1:c.1529G>A |
isolated CHD: ASD |
V0308 |
Small Variation |
DUSP27 |
NM_001080426.3:c.1996G>A |
isolated CHD: ASD |
V0309 |
Small Variation |
ECE1 |
NM_001113347.2:c.1525A>T |
isolated CHD: ASD |
V0310 |
Small Variation |
EPPK1 |
NM_031308.4:c.4626G>T |
isolated CHD: ASD |
V0311 |
Small Variation |
GAS2L2 |
NM_139285.4:c.863C>T |
isolated CHD: ASD |
V0312 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
isolated CHD: ASD |
V0313 |
Small Variation |
TLE1 |
NM_001303103.1:c.962C>T |
isolated CHD: ASD |
V0314 |
Small Variation |
FCN1 |
NM_002003.5:c.449C>T |
isolated CHD: ASD |
V0315 |
Small Variation |
TBC1D9B |
NM_015043.4:c.686C>G |
isolated CHD: ASD |
V0316 |
Small Variation |
UVRAG |
NM_003369.4:c.1922C>T |
isolated CHD: ASD |
V0317 |
Small Variation |
FOCAD |
NM_017794.4:c.5333C>T |
isolated CHD: ASD |
V0318 |
Small Variation |
JMJD1C |
NM_001282948.1:c.3826A>G |
isolated CHD: ASD |
V0319 |
Small Variation |
DUSP6 |
NM_001946.4:c.253C>T |
non-isolated CHD: CoA, BAV |
V0320 |
Small Variation |
ADGRB2 |
NM_001294335.2:c.608G>T |
non-isolated CHD: CoA, BAV |
V0321 |
Small Variation |
DUSP27 |
NM_001080426.3:c.1996G>A |
non-isolated CHD: CoA, BAV |
V0322 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
non-isolated CHD: CoA, BAV |
V0323 |
Small Variation |
FCN1 |
NM_002003.5:c.449C>T |
non-isolated CHD: CoA, BAV |
V0324 |
Small Variation |
UVRAG |
NM_003369.4:c.1922C>T |
non-isolated CHD: CoA, BAV |
V0325 |
Small Variation |
FOCAD |
NM_017794.4:c.5333C>T |
non-isolated CHD: CoA, BAV |
V0326 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
non-isolated CHD: ASD, CoA |
V0327 |
Small Variation |
DUSP6 |
NM_001946.4:c.253C>T |
non-isolated CHD: ASD, VSD, arotic aneurysm |
V0328 |
Small Variation |
ANK3 |
NM_001149.3:c.2380G>T |
non-isolated CHD: ASD, VSD, arotic aneurysm |
V0329 |
Small Variation |
DUSP27 |
NM_001080426.3:c.1996G>A |
non-isolated CHD: ASD, VSD, arotic aneurysm |
V0330 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
non-isolated CHD: ASD, VSD, arotic aneurysm |
V0331 |
Small Variation |
JMJD1C |
NM_001282948.1:c.3826A>G |
non-isolated CHD: ASD, VSD, arotic aneurysm |
V0332 |
Small Variation |
AFAP1L2 |
NM_001001936.3:c.2174G>A |
non-isolated CHD: CoA, AS |
V0333 |
Small Variation |
GAS2L2 |
NM_139285.4:c.863C>T |
non-isolated CHD: CoA, AS |
V0334 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
non-isolated CHD: CoA, AS |
V0335 |
Small Variation |
TBC1D9B |
NM_015043.4:c.686C>G |
non-isolated CHD: CoA, AS |
V0336 |
Small Variation |
AFAP1L2 |
NM_001001936.3:c.2174G>A |
non-isolated CHD: CoA, VSD, MR |
V0337 |
Small Variation |
MYH6 |
NM_002471.3:c.688G>C |
non-isolated CHD: CoA, VSD, MR |
V0338 |
Small Variation |
TBC1D9B |
NM_015043.4:c.686C>G |
non-isolated CHD: CoA, VSD, MR |
V0339 |
Small Variation |
NODAL |
NM_003888.4:c.182T>A |
non-isolated CHD: VSD, PAH |
V0340 |
Small Variation |
NODAL |
NM_003888.4:c.494A>G |
isolated CHD: ASD |
V0341 |
Small Variation |
NODAL |
NM_003888.4:c.607G>A |
isolated CHD: PDA |
V0364 |
Small Variation |
GATA5 |
NM_080473.5:c.8A>G |
isolated CHD: BAV |
V0365 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: BAV |
V0366 |
Small Variation |
GATA5 |
NM_080473.5:c.199A>C |
isolated CHD: BAV |
V0367 |
Small Variation |
GATA5 |
NM_080473.5:c424T>C |
isolated CHD: BAV |
V0368 |
Small Variation |
GATA5 |
NM_080473.5:c.496G>A |
isolated CHD: BAV |
V0375 |
Small Variation |
GATA4 |
NM_001308093.1:c.164A>G |
isolated CHD: VSD |
V0376 |
Small Variation |
GATA4 |
NM_001308093.1:c.286G>A |
non-isolated CHD: VSD, ASD |
V0377 |
Small Variation |
GATA4 |
NM_001308093.1:c.590A>G |
non-isolated CHD: VSD, PS |
V0378 |
Small Variation |
GATA4 |
NM_001308093.1:c.1211A>G |
isolated CHD: VSD |
V0379 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
V0380 |
Small Variation |
GJA5 |
NM_005266.6:c.793C>T |
isolated CHD: TOF |
V0381 |
Small Variation |
GJA5 |
NM_005266.6:c.793C>T |
non-isolated CHD: TOF, PS |
V0414 |
Small Variation |
GATA4 |
NM_002052.5:c.788C>G |
isolated CHD: VSD |
V0427 |
Small Variation |
TFAP2B |
NM_003221.4:c.31A>G |
isolated CHD: ECD |
V0433 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: TOF |
V0434 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: PTA |
V0435 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: PDA |
V0436 |
Small Variation |
GATA5 |
NM_080473.5:c.595C>G |
non-isolated CHD: VSD, AS |
V0437 |
Small Variation |
GATA5 |
NM_080473.5:c.595C>G |
isolated CHD: VSD |
V0438 |
Small Variation |
GATA5 |
NM_080473.5:c.595C>G |
non-isolated CHD: VSD, DORV |
V0439 |
Small Variation |
GATA6 |
NM_005257.5:c.1210G>T |
non-isolated CHD: VSD, PDA |
V0440 |
Small Variation |
GATA6 |
NM_005257.5:c.1210G>T |
non-isolated CHD: VSD, PS |
V0441 |
Small Variation |
GATA6 |
NM_005257.5:c.1210G>T |
isolated CHD: VSD |
V0481 |
Small Variation |
GATA6 |
NM_005257.5:c.1180G>T |
isolated CHD: TOF |
V0482 |
Small Variation |
NFATC1 |
NM_172390.3:c.197C>T |
isolated CHD: TA |
V0483 |
Small Variation |
NFATC1 |
NM_172390.3:c.2101A>G |
isolated CHD: TA |
V0487 |
Small Variation |
GATA5 |
NM_080473.5:c.559C>G |
isolated CHD: TOF |
V0488 |
Small Variation |
GATA5 |
NM_080473.5:c.559C>G |
non-isolated CHD: TOF, PDA |
V0491 |
Small Variation |
ZIC3 |
NM_003413.4:c.49G>T |
isolated CHD: DORV |
V0492 |
Small Variation |
ZIC3 |
NM_003413.4:c.98C>T |
isolated CHD: D-TGA |
V0494 |
Small Variation |
ZIC3 |
NM_003413.4:c.649C>G |
isolated CHD: DORV |
V0495 |
Small Variation |
ZIC3 |
NM_003413.4:c.649C>G |
isolated CHD: L-TGA |
V0496 |
Small Variation |
ZIC3 |
NM_003413.4:c.649C>G |
isolated CHD: TOF |
V0497 |
Small Variation |
HOMEZ |
NM_020834.3:c.116C>T |
isolated CHD: VSD |
V0498 |
Small Variation |
HOMEZ |
NM_020834.3:c.630T>A |
isolated CHD: VSD |
V0499 |
Small Variation |
GATA4 |
NM_001308093.1:c.196G>A |
non-isolated CHD: PDA, VSD |
V0500 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
isolated CHD: VSD |
V0510 |
Small Variation |
GATA4 |
NM_001308093.1:c.221C>A |
isolated CHD: PS |
V0514 |
Small Variation |
GATA4 |
NM_001308093.1:c.448G>T |
isolated CHD: TOF |
V0515 |
Small Variation |
GATA4 |
NM_001308093.1:c.628G>A |
NA: C-CHD |
V0516 |
Small Variation |
GATA4 |
NM_001308093.1:c.749T>A |
isolated CHD: VSD |
V0517 |
Small Variation |
GATA4 |
NM_001308093.1:c.1057G>A |
isolated CHD: TOF |
V0518 |
Small Variation |
GATA4 |
NM_001308093.1:c.1079A>G |
isolated CHD: VSD |
V0519 |
Small Variation |
GATA4 |
NM_001308093.1:c.1325C>T |
isolated CHD: VSD |
V0520 |
Small Variation |
GATA4 |
NM_001308093.1:c.1123G>A |
non-isolated CHD: VSD, PDA |
V0521 |
Small Variation |
GATA4 |
NM_001308093.1:c.487C>T |
isolated CHD: VSD |
V0549 |
Small Variation |
PITX2 |
NM_000325.6:c.294C>A |
isolated CHD: ASD |
V0550 |
Small Variation |
PITX2 |
NM_000325.6:c.356T>C |
isolated CHD: ASD |
V0551 |
Small Variation |
GATA4 |
NM_001308093.1:c.25G>C |
isolated CHD: TOF |
V0552 |
Small Variation |
GATA4 |
NM_001308093.1:c.151C>G |
isolated CHD: TOF |
V0553 |
Small Variation |
GATA4 |
NM_001308093.1:c.151C>G |
non-isolated CHD: TOF, ASD |
V0554 |
Small Variation |
GATA4 |
NM_001308093.1:c.854A>G |
isolated CHD: TOF |
V0555 |
Small Variation |
SMAD7 |
NM_005904.3:c.224C>T |
isolated CHD: NA |
V0556 |
Small Variation |
SMAD7 |
NM_005904.3:c.403A>G |
isolated CHD: NA |
V0557 |
Small Variation |
SMAD7 |
NM_005904.3:c.560A>G |
isolated CHD: NA |
V0558 |
Small Variation |
SMAD7 |
NM_005904.3:c.1084C>T |
isolated CHD: NA |
V0560 |
Small Variation |
SMAD7 |
NM_005904.3:c.1247C>A |
isolated CHD: NA |
V0577 |
Small Variation |
MESP1 |
NM_018670.3:c.33G>C |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
V0580 |
Small Variation |
MESP1 |
NM_018670.3:c.157G>C |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
V0583 |
Small Variation |
MESP1 |
NM_018670.3:c.182T>G |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
V0590 |
Small Variation |
MESP1 |
NM_018670.3:c.669C>G |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
V0597 |
Small Variation |
PITX2 |
NM_000325.6:c.441G>A |
non-isolated CHD: VSD, DORV |
V0598 |
Small Variation |
PITX2 |
NM_000325.6:c.457A>G |
isolated CHD: VSD |
V0599 |
Small Variation |
PITX2 |
NM_000325.6:c.457A>G |
isolated CHD: VSD |
V0600 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
V0601 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
isolated CHD/non-isolated CHD: NA |
V0602 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
NA: Septa and valve abnormalities |
V0603 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
NA: Septa and valve abnormalities |
V0604 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
V0605 |
Small Variation |
ZIC3 |
NM_003413.4:c.1340C>G |
non-isolated CHD: PA, VSD, ASD |
V0607 |
Small Variation |
ZIC3 |
NM_003413.4:c.326C>G |
non-isolated CHD: D-TGA, PDA |
V0608 |
Small Variation |
ZIC3 |
NM_003413.4:c.649C>G |
non-isolated CHD: VI, HLV, MV, D-TGA, DORV, VSD |
V0611 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(3836G>A) |
isolated CHD: CoA |
V0621 |
Small Variation |
CITED2 |
NM_001168388.2:c.550G>A |
non-isolated CHD: MID, RAA, TOF |
V0622 |
Small Variation |
CITED2 |
NM_001168388.2:c.574A>G |
isolated CHD: ASD |
V0625 |
Small Variation |
TTN |
NM_001267550.2:c.98242C>T |
isolated CHD: TOF |
V0626 |
Small Variation |
BARX1 |
NM_021570.4:c.632C>T |
isolated CHD: TOF |
V0627 |
Small Variation |
TTN |
NM_001267550.2:c.64987C>T |
isolated CHD: TOF |
V0628 |
Small Variation |
EDN1 |
NM_001955.5:c.570T>G |
isolated CHD: TOF |
V0629 |
Small Variation |
MYOM2 |
NM_003970.4:c.590C>T |
isolated CHD: TOF |
V0630 |
Small Variation |
TP53BP2 |
NM_005426.2:c.919A>G |
isolated CHD: TOF |
V0631 |
Small Variation |
TTN |
NM_001267550.2:c.65047C>G |
isolated CHD: TOF |
V0632 |
Small Variation |
RCC1L |
NM_030798.5:c.43C>T |
isolated CHD: TOF |
V0633 |
Small Variation |
MYOM2 |
NM_003970.4:c.3904A>G |
isolated CHD: TOF |
V0634 |
Small Variation |
DAG1 |
NM_004393.6:c.359T>A |
isolated CHD: TOF |
V0635 |
Small Variation |
FMR1 |
NM_002024.5:c.1732C>T |
isolated CHD: TOF |
V0636 |
Small Variation |
PEX6 |
NM_000287.4:c.1718C>T |
isolated CHD: TOF |
V0637 |
Small Variation |
TTN |
NM_001267550.2:c.75035G>A |
isolated CHD: TOF |
V0638 |
Small Variation |
BCCIP |
NM_016567.4:c.902T>A |
isolated CHD: TOF |
V0639 |
Small Variation |
FANCL |
NM_001114636.1:c.685A>G |
isolated CHD: TOF |
V0640 |
Small Variation |
FOXK1 |
NM_001037165.2:c.2080G>A |
isolated CHD: TOF |
V0641 |
Small Variation |
PEX6 |
NM_000287.4:c.488G>C |
isolated CHD: TOF |
V0642 |
Small Variation |
TTN |
NM_001267550.2:c.9359G>A |
isolated CHD: TOF |
V0643 |
Small Variation |
TTN |
NM_001267550.2:c.98242C>T |
isolated CHD: TOF |
V0644 |
Small Variation |
DAG1 |
NM_004393.6:c.2151G>C |
isolated CHD: TOF |
V0645 |
Small Variation |
FANCL |
NM_001114636.1:c.112C>T |
isolated CHD: TOF |
V0646 |
Small Variation |
ELOA |
NM_003198.2:c.373C>T |
isolated CHD: TOF |
V0647 |
Small Variation |
EDN1 |
NM_001955.5:c.354G>C |
isolated CHD: TOF |
V0648 |
Small Variation |
ROCK1 |
NM_005406.3:c.2000A>T |
isolated CHD: TOF |
V0649 |
Small Variation |
TTN |
NM_001267550.2:c.49150A>C |
isolated CHD: TOF |
V0650 |
Small Variation |
TTN |
NM_001267550.2:c.52852C>T |
isolated CHD: TOF |
V0651 |
Small Variation |
MYOM2 |
NM_003970.4:c.2119G>A |
isolated CHD: TOF |
V0652 |
Small Variation |
TTN |
NM_001267550.2:c.30389G>A |
isolated CHD: TOF |
V0653 |
Small Variation |
TTN |
NM_001267550.2:c.100432T>G |
isolated CHD: TOF |
V0654 |
Small Variation |
FANCM |
NM_020937.4:c.3676G>A |
isolated CHD: TOF |
V0655 |
Small Variation |
FOXK1 |
NM_001037165.2:c.2080G>A |
isolated CHD: TOF |
V0656 |
Small Variation |
TP53BP2 |
NM_005426.2:c.1405G>A |
isolated CHD: TOF |
V0657 |
Small Variation |
BCCIP |
NM_016567.4:c.106G>A |
isolated CHD: TOF |
V0659 |
Small Variation |
HCN2 |
NM_001194.4:c.979C>T |
isolated CHD: TOF |
V0660 |
Small Variation |
MYOM2 |
NM_003970.4:c.3320G>C |
isolated CHD: TOF |
V0661 |
Small Variation |
ELOA |
NM_003198.2:c.1939G>A |
isolated CHD: TOF |
V0662 |
Small Variation |
ACTC1 |
NM_005159.5:c.532A>T |
isolated CHD: ASD |
V0663 |
Small Variation |
GATA4 |
NM_001308093.1:c.955A>G |
non-isolated CHD: ASD, PS |
V0666 |
Small Variation |
HAS2 |
NM_005328.3:c.1496A>T |
isolated CHD: VSD |
V0667 |
Small Variation |
FBN1 |
NM_000138.4:c.1586G>A |
isolated CHD: BAV |
V0668 |
Small Variation |
FBN1 |
NM_000138.4:c.1906A>G |
isolated CHD: BAV |
V0669 |
Small Variation |
FBN1 |
NM_000138.4:c.8176C>T |
isolated CHD: BAV |
V0670 |
Small Variation |
MTHFR |
NM_005957.5:c.665C>T |
isolated CHD: PDA |
V0671 |
Small Variation |
MTHFR |
NM_005957.5:c.1286A>C |
isolated CHD: PDA |
V0672 |
Small Variation |
GATA5 |
NM_080473.5:c.609C>G |
isolated CHD: TOF |
V0674 |
Small Variation |
DLC1 |
NM_006094.5:c.797G>A |
non-isolated CHD: VSD, PFO |
V0675 |
Small Variation |
DLC1 |
NM_006094.5:c.1237T>A |
isolated CHD: VSD |
V0676 |
Small Variation |
DLC1 |
NM_006094.5:c.1683C>A |
isolated CHD: PDA |
V0677 |
Small Variation |
DLC1 |
NM_006094.5:c.2854C>G |
isolated CHD: VSD |
V0678 |
Small Variation |
DLC1 |
NM_006094.5:c.4111G>C |
isolated CHD: VSD |
V0680 |
Small Variation |
DLC1 |
NM_006094.5:c.1048G>A |
isolated CHD: VSD |
V0681 |
Small Variation |
DLC1 |
NM_006094.5:c.1079T>A |
isolated CHD: ASD |
V0682 |
Small Variation |
DLC1 |
NM_006094.5:c.1252G>A |
isolated CHD: PS |
V0683 |
Small Variation |
DLC1 |
NM_006094.5:c.1298C>A |
isolated CHD: PDA |
V0684 |
Small Variation |
DLC1 |
NM_006094.5:c.1661_1662delinsTC |
isolated CHD: PDA |
V0685 |
Small Variation |
DLC1 |
NM_006094.5:c.659C>T |
isolated CHD: TOF |
V0686 |
Small Variation |
DLC1 |
NM_006094.5:c.1051C>T |
isolated CHD: TOF |
V0691 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: ASD |
V0692 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: VSD |
V0693 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: TOF |
V0694 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: ASD/VSD/TOF |
V0715 |
Small Variation |
PITX2 |
NM_000325.6:c.272G>A |
isolated CHD: VSD |
V0716 |
Small Variation |
PITX2 |
NM_000325.6:c.272G>A |
non-isolated CHD: TGA, VSD |
V0717 |
Small Variation |
PITX2 |
NM_000325.6:c.385A>T |
isolated CHD: VSD |
V0721 |
Small Variation |
GATA5 |
NM_080473.5:c.46T>G |
non-isolated CHD: BAV, VSD, AV |
V0722 |
Small Variation |
GATA5 |
NM_080473.5:c.46T>G |
isolated CHD: BAV |
V0723 |
Small Variation |
GATA5 |
NM_080473.5:c.754A>C |
isolated CHD: BAV |
V0725 |
Small Variation |
GATA5 |
NM_080473.5:c.8A>G |
non-isolated CHD: BAV, CoA, R-L |
V0726 |
Small Variation |
GATA5 |
NM_080473.5:c.698T>C |
non-isolated CHD: BAV, CoA, R-NC |
V0727 |
Small Variation |
GATA6 |
NM_005257.5:c.43G>C |
isolated CHD/non-isolated CHD: CTDs |
V0728 |
Small Variation |
GATA6 |
NM_005257.5:c.151G>A |
isolated CHD: TOF |
V0729 |
Small Variation |
GATA6 |
NM_005257.5:c.551G>A |
isolated CHD: TOF |
V0737 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
V0744 |
Small Variation |
SCN5A |
NM_000335.4:c.4485C>A |
non-isolated CHD: AV block, TOF |
V0747 |
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: ASD |
V0748 |
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: VSD |
V0754 |
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: VSD/ASD |
V0757 |
Small Variation |
ZFPM2 |
NM_012082.4:c.1015G>A |
isolated CHD: DORV |
V0758 |
Small Variation |
ZFPM2 |
NM_012082.4:c.1276G>A |
isolated CHD: DORV |
V0759 |
Small Variation |
ZFPM2 |
NM_012082.4:c.2107A>C |
isolated CHD: TOF |
V0760 |
Small Variation |
ZFPM2 |
NM_012082.4:c.2528C>T |
isolated CHD: TOF |
V0773 |
Small Variation |
FOXC2 |
NM_005251.3:c.583C>G |
isolated CHD: TOF |
V0774 |
Small Variation |
FOXC2 |
NM_005251.3:c.1331A>G |
isolated CHD: TOF |
V0779 |
Small Variation |
FOXH1 |
NM_003923.3:c.338G>C |
isolated CHD: TOF |
V0782 |
Small Variation |
GATA4 |
NM_001308093.1:c.1037C>T |
isolated CHD: TOF |
V0784 |
Small Variation |
FOXA2 |
NM_153675.3:c.280G>C |
isolated CHD: TOF |
V0787 |
Small Variation |
GATA4 |
NM_001308093.1:c.886G>A |
isolated CHD: TOF |
V0788 |
Small Variation |
TBX1 |
NM_005992.1:c.1074G>A |
isolated CHD: TOF |
V0789 |
Small Variation |
GATA4 |
NM_001308093.1:c.1012G>C |
isolated CHD: TOF |
V0797 |
Small Variation |
FOXA2 |
NM_153675.3:c.565A>T |
isolated CHD: TOF |
V0799 |
Small Variation |
TBX1 |
NM_005992.1:c.115G>A |
isolated CHD: TOF |
V0800 |
Small Variation |
TBX20 |
NM_001077653.2:c.364A>G |
isolated CHD: TOF |
V0802 |
Small Variation |
TBX1 |
NM_005992.1:c.11C>T |
isolated CHD: TOF |
V0803 |
Small Variation |
TBX1 |
NM_005992.1:c.1074G>A |
isolated CHD: TOF |
V0804 |
Small Variation |
FOXA2 |
NM_153675.3:c.872C>T |
isolated CHD: TOF |
V0805 |
Small Variation |
GATA4 |
NM_001308093.1:c.979G>C |
isolated CHD: TOF |
V0806 |
Small Variation |
FOXA2 |
NM_153675.3:c.1334A>G |
isolated CHD: TOF |
V0809 |
Small Variation |
FOXC1 |
NM_001453.3:c.889C>T |
isolated CHD: TOF |
V0812 |
Small Variation |
CCN1 |
NM_001554.5:c.139C>T |
isolated CHD: ASD |
V0813 |
Small Variation |
TBX20 |
NM_001077653.2:c.526G>A |
isolated CHD: ASD |
V0814 |
Small Variation |
NKX2-6 |
NM_001136271.2:c.527T>C |
isolated CHD: TOF |
V0816 |
Small Variation |
NTRK3 |
NM_002530.4:c.488A>T |
isolated CHD: VSD |
V0817 |
Small Variation |
NTRK3 |
NM_002530.4:c.1597A>T |
isolated CHD: VSD |
V0835 |
Small Variation |
APC |
NM_000038.6:c.7862C>G |
isolated CHD: BAV |
V0836 |
Small Variation |
MCTP2 |
NM_018349.3:c.2539C>T |
isolated CHD: BAV |
V0837 |
Small Variation |
MSX1 |
NM_002448.3:c.581A>G |
isolated CHD: BAV |
V0838 |
Small Variation |
NFATC1 |
NM_006162.5:c.230C>T |
isolated CHD: BAV |
V0839 |
Small Variation |
NFATC1 |
NM_006162.5:c.628G>A |
isolated CHD: BAV |
V0840 |
Small Variation |
NOS1 |
NM_000620.5:c.1975G>A |
isolated CHD: BAV |
V0841 |
Small Variation |
NOTCH1 |
NM_017617.5:c.6481C>T |
isolated CHD: BAV |
V0842 |
Small Variation |
NOTCH2 |
NM_024408.4:c.6363G>C |
isolated CHD: BAV |
V0843 |
Small Variation |
NOTCH3 |
NM_000435.3:c.509A>G |
isolated CHD: BAV |
V0844 |
Small Variation |
PAX6 |
NM_000280.4:c.1225G>A |
isolated CHD: BAV |
V0845 |
Small Variation |
PIGF |
NM_002643.4:c.370A>G |
isolated CHD: BAV |
V0847 |
Small Variation |
PPP3CA |
NM_000944.5:c.334C>T |
isolated CHD: BAV |
V0848 |
Small Variation |
PTCH1 |
NM_000264.5:c.3487G>A |
isolated CHD: BAV |
V0850 |
Small Variation |
SLC35B2 |
NM_178148.4:c.1105A>G |
isolated CHD: BAV |
V0851 |
Small Variation |
SNAI3 |
NM_178310.4:c.488C>T |
isolated CHD: BAV |
V0852 |
Small Variation |
SOX9 |
NM_000346.4:c.817G>C |
isolated CHD: BAV |
V0853 |
Small Variation |
TBX5 |
NM_000192.3:c.1115C>T |
isolated CHD: BAV |
V0854 |
Small Variation |
TBX5 |
NM_000192.3:c.787G>A |
isolated CHD: BAV |
V0855 |
Small Variation |
VEGFB |
NM_003377.5:c.286C>G |
isolated CHD: BAV |
V0856 |
Small Variation |
VEGFC |
NM_005429.5:c.140A>T |
isolated CHD: BAV |
V0857 |
Small Variation |
AXIN2 |
NM_004655.4:c.2051C>T |
isolated CHD: BAV |
V0859 |
Small Variation |
ZNF236 |
NM_007345.3:c.4628C>T |
isolated CHD: BAV |
V0860 |
Small Variation |
FLT1 |
NM_002019.4:c.3092C>G |
isolated CHD: BAV |
V0861 |
Small Variation |
GATA4 |
NM_001308093.1:c.1310G>C |
isolated CHD: BAV |
V0862 |
Small Variation |
GATA5 |
NM_080473.5:c.698T>C |
isolated CHD: BAV |
V0863 |
Small Variation |
GLI1 |
NM_005269.3:c.3142G>A |
isolated CHD: BAV |
V0864 |
Small Variation |
JAG1 |
NM_000214.3:c.2810G>A |
isolated CHD: BAV |
V0865 |
Small Variation |
MCTP2 |
NM_018349.3:c.1634C>T |
isolated CHD: BAV |
V0870 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
isolated CHD: ASD |
V0872 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
isolated CHD: VSD |
V0873 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
NA: Septa and valve abnormalities |
V0875 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
non-isolated CHD: ASD, VSD |
V0877 |
Small Variation |
LARS |
NM_020117.11:c.3263G>A |
NA: Septa and valve abnormalities |
V0878 |
Small Variation |
RARS |
NM_002887.4:c.7G>A |
NA: Septa and valve abnormalities |
V0882 |
Small Variation |
IARS |
NM_002161.5:c.3544A>G |
NA: Septa and valve abnormalities |
V0896 |
Small Variation |
CRELD1 |
NM_015513.5:c.(985C>T) |
isolated CHD: AVSD |
V0898 |
Small Variation |
CRELD1 |
NM_015513.5:c.(932C>T) |
isolated CHD: AVSD |
V0899 |
Small Variation |
CRELD1 |
NM_015513.5:c.(320G>A) |
isolated CHD: AVSD |
V0900 |
Small Variation |
NKX2-6 |
NM_001136271.2:c.454A>C |
isolated CHD: VSD |
V0901 |
Small Variation |
TBX20 |
NM_001077653.2:c.766T>C |
isolated CHD: NA |
V0902 |
Small Variation |
TBX20 |
NM_001077653.2:c.657A>C |
isolated CHD: NA |
V0903 |
Small Variation |
TFAP2B |
NM_003221.4:c.(854G>A) |
isolated CHD: PDA |
V0910 |
Small Variation |
TBX5 |
NM_000192.3:c.(497A>G) |
isolated CHD: Pm VSD |
V0911 |
Small Variation |
TBX5 |
NM_000192.3:c.(497A>G) |
non-isolated CHD: Pm VSD, ASD |
V0912 |
Small Variation |
TBX5 |
NM_000192.3:c.(497A>G) |
non-isolated CHD: ASD, VSD |
V0914 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
isolated CHD: TOF |
V0915 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
non-isolated CHD: PTA, VSD |
V0916 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
non-isolated CHD: PA, VSD, MAPCA |
V0917 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
isolated CHD: ALCAPA |
V0926 |
Small Variation |
TBX20 |
NM_001077653.2:c.400G>T |
non-isolated CHD: DORV, VSD |
V0927 |
Small Variation |
TBX20 |
NM_001077653.2:c.400G>T |
isolated CHD: DORV |
V0930 |
Small Variation |
NKX2-5 |
NM_004387.4:c.(809G>A) |
isolated CHD: ASD |
V0931 |
Small Variation |
NKX2-5 |
NM_004387.4:c.(461A>G) |
isolated CHD: ASD |
V0934 |
Small Variation |
NKX2-5 |
NM_004387.4:c.(73C>T) |
isolated CHD: ASD |
V1001 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: ASD |
V1002 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: VSD |
V1003 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: TOF |
V1004 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: SV |
V1005 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
V1006 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: VSD |
V1007 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: TOF |
V1008 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: SV |
V1029 |
Small Variation |
TWIST1 |
NM_000474.4:c.247C>T |
isolated CHD: VSD |
V1030 |
Small Variation |
TWIST1 |
NM_000474.4:c.283T>C |
isolated CHD: VSD |
V1051 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS |
V1052 |
Small Variation |
TBX5 |
NM_000192.3:c.322C>A |
isolated CHD: TA |
V1053 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: AS |
V1054 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: TOF |
V1055 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: TGA |
V1056 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
non-isolated CHD: SVAS, PS |
V1057 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
non-isolated CHD: DORV, HLV |
V1058 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
non-isolated CHD: CoA, VSD |
V1059 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: DORV, HLV |
V1060 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: CoA, VSD |
V1061 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: VSD |
V1062 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: SV, PS |
V1063 |
Small Variation |
TBX5 |
NM_000192.3:c.791G>A |
isolated CHD: VSD |
V1064 |
Small Variation |
GATA4 |
NM_001308093.1:c.1292T>G |
non-isolated CHD: SV, PS |
V1065 |
Small Variation |
GATA4 |
NM_001308093.1:c.1292T>G |
isolated CHD: ASD |
V1066 |
Small Variation |
CFC1 |
NM_032545.3:c.433G>A |
isolated CHD: TGA |
V1069 |
Small Variation |
TBX5 |
NM_000192.3:c.791G>A |
non-isolated CHD: VSD, PA |
V1070 |
Small Variation |
TBX20 |
NM_001077653.2:c.991A>G |
isolated CHD: VSD |
V1072 |
Small Variation |
GATA4 |
NM_001308093.1:c.431C>T |
non-isolated CHD: PA, ASD |
V1073 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
non-isolated CHD: SV, PS |
V1074 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: AVSD |
V1075 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: TA |
V1076 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD/non-isolated CHD: SV, PS/AVSD/AS/TOF/TGA/SVAS, PS |
V1077 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD |
V1078 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1079 |
Small Variation |
GATA4 |
NM_001308093.1:c.1292T>G |
isolated CHD/non-isolated CHD: SV, PS/ASD |
V1080 |
Small Variation |
CFC1 |
NM_032545.3:c.433G>A |
isolated CHD: TGA |
V1106 |
Small Variation |
PITX2 |
NM_000325.6:c.305A>T |
isolated CHD: TOF |
V1107 |
Small Variation |
HAND2 |
NM_021973.3:c.140T>C |
isolated CHD: TOF |
V1114 |
Small Variation |
MESP1 |
NM_018670.3:c.209G>A |
isolated CHD: cVSD |
V1115 |
Small Variation |
MESP1 |
NM_018670.3:c.310G>A |
isolated CHD: TOF |
V1116 |
Small Variation |
MESP1 |
NM_018670.3:c.359T>C |
isolated CHD: TOF |
V1118 |
Small Variation |
MESP1 |
NM_018670.3:c.503A>G |
isolated CHD: cVSD |
V1119 |
Small Variation |
MESP1 |
NM_018670.3:c.804G>C |
non-isolated CHD: mVSD, CoA, AA |
V1120 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD/ASD/PDA/TOF/TGA/PTA |
V1121 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
isolated CHD: VSD/ASD/PDA/TOF/TGA/PTA |
V1122 |
Small Variation |
MTHFR |
NM_005957.5:c.1793G>A |
isolated CHD: VSD/ASD/PDA/TOF/TGA/PTA |
V1145 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3787C>T |
isolated CHD: VT |
V1146 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3787C>T |
isolated CHD: LVNC |
V1147 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3787C>T |
non-isolated CHD: PDA, LV |
V1159 |
Small Variation |
HAND2 |
NM_021973.3:c.194G>T |
non-isolated CHD: VSD, PS |
V1160 |
Small Variation |
HAND2 |
NM_021973.3:c.194G>T |
isolated CHD: VSD |
V1161 |
Small Variation |
HAND2 |
NM_021973.3:c.194G>T |
non-isolated CHD: VSD, DORV |
V1170 |
Small Variation |
EDEM2 |
NM_018217.3:c.1366G>A |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
V1177 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
V1178 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
V1179 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
V1180 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PDA |
V1181 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PFO |
V1182 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: CHD with PAH |
V1183 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: other |
V1186 |
Small Variation |
BMPR2 |
NM_001204.7:c.536G>A |
isolated CHD/non-isolated CHD: PVD |
V1188 |
Small Variation |
BMPR2 |
NM_001204.7:c.907C>T |
isolated CHD/non-isolated CHD: PVD |
V1189 |
Small Variation |
BMPR2 |
NM_001204.7:c.1042G>A |
isolated CHD/non-isolated CHD: PVD |
V1191 |
Small Variation |
BMPR2 |
NM_001204.7:c.1042G>A |
isolated CHD/non-isolated CHD: PVD |
V1193 |
Small Variation |
BMPR2 |
NM_001204.7:c.1310A>G |
isolated CHD/non-isolated CHD: PVD |
V1194 |
Small Variation |
BMPR2 |
NM_001204.7:c.2495C>G |
isolated CHD/non-isolated CHD: PVD |
V1196 |
Small Variation |
BMPR2 |
NM_001204.7:c.79T>G |
isolated CHD/non-isolated CHD: PVD |
V1197 |
Small Variation |
BMPR2 |
NM_001204.7:c.145A>G |
isolated CHD/non-isolated CHD: PVD |
V1199 |
Small Variation |
BMPR2 |
NM_001204.7:c.276A>C |
isolated CHD/non-isolated CHD: NA |
V1200 |
Small Variation |
BMPR2 |
NM_001204.7:c.344T>G |
isolated CHD/non-isolated CHD: PVD |
V1201 |
Small Variation |
BMPR2 |
NM_001204.7:c.383C>T |
isolated CHD/non-isolated CHD: PVD |
V1202 |
Small Variation |
GATA5 |
NM_080473.5:c.(865A>G) |
isolated CHD: AVC |
V1203 |
Small Variation |
GATA5 |
NM_080473.5:c.698T>C |
isolated CHD: CoA |
V1204 |
Small Variation |
GATA5 |
NM_080473.5:c.496G>A |
isolated CHD: SV |
V1205 |
Small Variation |
GATA5 |
NM_080473.5:c.496G>A |
isolated CHD: TOF |
V1206 |
Small Variation |
GATA5 |
NM_080473.5:c.424T>C |
isolated CHD: DORV |
V1207 |
Small Variation |
GATA5 |
NM_080473.5:c.(188G>C) |
isolated CHD: PS |
V1208 |
Small Variation |
GATA5 |
NM_080473.5:c.(181C>A) |
isolated CHD: VSD |
V1209 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: ASD |
V1210 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: TOF |
V1211 |
Small Variation |
GATA5 |
NM_080473.5:c.199A>C |
isolated CHD: AS/ CoA/VSD/PDA/AVC |
V1219 |
Small Variation |
NKX2-5 |
NM_004387.4:c.738T>A |
isolated CHD: ASD/VSD/PDA/PS/TOF/AS |
V1221 |
Small Variation |
RNF41 |
NM_005785.4:c.206T>A |
NA: NA |
V1223 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
NA: NA |
V1224 |
Small Variation |
BMP4 |
NM_001202.6:c.455T>C |
NA: NA |
V1225 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: VSD |
V1226 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: ASD |
V1227 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: PDA |
V1228 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
non-isolated CHD: ASD, PS |
V1229 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: TOF |
V1233 |
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD/non-isolated CHD: NA |
V1239 |
Small Variation |
KDR |
NM_002253.3:c.1416A>T |
isolated CHD/non-isolated CHD: NA |
V1241 |
Small Variation |
KDR |
NM_002253.3:c.889G>A |
isolated CHD/non-isolated CHD: NA |
V1257 |
Small Variation |
BCL-6 |
NM_001706.5:c.1477G>A |
isolated CHD/non-isolated CHD: NA |
V1267 |
Small Variation |
CASZ1 |
NM_017766.5:c.113T>C |
isolated CHD: VSD |
V1268 |
Small Variation |
CASZ1 |
NM_017766.5:c.113T>C |
non-isolated CHD: VSD, DORV |
V1289 |
Small Variation |
HAND1 |
NM_004821.3:c.352C>T |
isolated CHD: TOF |
V1291 |
Small Variation |
DYSF |
NM_001130987.2:c.1481G>A |
isolated CHD: PFO |
V1292 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3835C>T |
isolated CHD: PFO |
V1293 |
Small Variation |
NRG2 |
NM_004883.3:c.768G>T |
isolated CHD: PFO |
V1294 |
Small Variation |
PRRC2B |
NM_013318.3:c.2869A>G |
isolated CHD: PFO |
V1295 |
Small Variation |
SRPK2 |
NM_182691.2:c.2044C>T |
isolated CHD: PFO |
V1297 |
Small Variation |
DYSF |
NM_001130987.2:c.1481G>A |
isolated CHD: ASD |
V1298 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3835C>T |
isolated CHD: ASD |
V1299 |
Small Variation |
NRG2 |
NM_004883.3:c.768G>T |
isolated CHD: ASD |
V1300 |
Small Variation |
PRRC2B |
NM_013318.3:c.2869A>G |
isolated CHD: ASD |
V1301 |
Small Variation |
SRPK2 |
NM_182691.2:c.2044C>T |
isolated CHD: ASD |
V1302 |
Small Variation |
CNOT1 |
NM_016284.5:c.6455T>G |
isolated CHD: ASD |
V1303 |
Small Variation |
DYSF |
NM_001130987.2:c.1481G>A |
isolated CHD: ASD |
V1304 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3835C>T |
isolated CHD: ASD |
V1305 |
Small Variation |
NRG2 |
NM_004883.3:c.768G>T |
isolated CHD: ASD |
V1306 |
Small Variation |
PRRC2B |
NM_013318.3:c.2869A>G |
isolated CHD: ASD |
V1307 |
Small Variation |
SRPK2 |
NM_182691.2:c.2044C>T |
isolated CHD: ASD |
V1308 |
Small Variation |
CNOT1 |
NM_016284.5:c.6455T>G |
isolated CHD: ASD |
V1309 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3835C>T |
isolated CHD: ASD |
V1310 |
Small Variation |
PRRC2B |
NM_013318.3:c.2869A>G |
isolated CHD: ASD |
V1311 |
Small Variation |
SRPK2 |
NM_182691.2:c.2044C>T |
isolated CHD: ASD |
V1331 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
isolated CHD: TOF |
V1332 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
isolated CHD: DORV |
V1333 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
non-isolated CHD: PA, VSD |
V1334 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
isolated CHD: TGA |
V1335 |
Small Variation |
GATA4 |
NM_001308093.1:c.191G>A |
isolated CHD: TOF |
V1336 |
Small Variation |
GATA4 |
NM_001308093.1:c.191G>A |
isolated CHD: DORV |
V1337 |
Small Variation |
GATA4 |
NM_001308093.1:c.500C>A |
isolated CHD: DORV |
V1341 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
isolated CHD: TOF |
V1342 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
non-isolated CHD: PA, VSD |
V1343 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
non-isolated CHD: SA, SV |
V1344 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TOF |
V1345 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TGA |
V1346 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: TOF |
V1347 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: DORV |
V1348 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: PA, VSD |
V1349 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: TGA |
V1350 |
Small Variation |
GATA4 |
NM_001308093.1:c.196G>A |
isolated CHD: TOF |
V1374 |
Small Variation |
IRX1 |
NM_024337.4:c.893G>A |
isolated CHD: TAPVD |
V1375 |
Small Variation |
IRX1 |
NM_024337.4:c.1142C>A |
isolated CHD: VSD |
V1376 |
Small Variation |
JAG1 |
NM_000214.3:c.1511A>G |
non-isolated CHD: TOF, PFO |
V1377 |
Small Variation |
ZFPM2 |
NM_012082.4:c.3014A>G |
isolated CHD: TOF |
V1379 |
Small Variation |
TBX5 |
NM_000192.3:c.409G>T |
non-isolated CHD: TOF, PDA, PFO |
V1381 |
Small Variation |
GATA6 |
NM_005257.5:c.972C>G |
isolated CHD: TOF |
V1382 |
Small Variation |
JAG1 |
NM_000214.3:c.3038A>T |
isolated CHD: TOF |
V1383 |
Small Variation |
GATA5 |
NM_080473.5:c.274G>T |
isolated CHD: TOF |
V1384 |
Small Variation |
JAG1 |
NM_000214.3:c.2906T>C |
isolated CHD: TOF |
V1385 |
Small Variation |
JAG1 |
NM_000214.3:c.806C>G |
non-isolated CHD: TOF, ASD |
V1386 |
Small Variation |
GATA4 |
NM_001308093.1:c.1138G>A |
non-isolated CHD: TOF, PFO |
V1387 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: TOF, PFO |
V1388 |
Small Variation |
GATA5 |
NM_080473.5:c.943T>A |
non-isolated CHD: TOF, PFO |
V1389 |
Small Variation |
GATA6 |
NM_005257.5:c.331G>A |
isolated CHD: TOF |
V1390 |
Small Variation |
ZFPM2 |
NM_012082.4:c.3442G>A |
non-isolated CHD: TOF, PFO |
V1391 |
Small Variation |
TBX5 |
NM_000192.3:c.40C>A |
isolated CHD: VSD |
V1422 |
Small Variation |
KCNH2 |
NM_000238.4:c.(1714G>A) |
isolated CHD: TOF |
V1423 |
Small Variation |
KCNQ1 |
NM_000218.3:c.(1768G>A) |
non-isolated CHD: PS, hypoplastic RV, Long ST/QT |
V1425 |
Small Variation |
KCNQ1 |
NM_000218.3:c.(569G>A) |
non-isolated CHD: TA, VSD, NRGV |
V1427 |
Small Variation |
KCNH2 |
NM_000238.4:c.(1591C>T) |
isolated CHD: PDA |
V1428 |
Small Variation |
KCNH2 |
NM_000238.4:c.(2147T>G) |
non-isolated CHD: HA/Fenestrated ASDs |
V1429 |
Small Variation |
KCNH2 |
NM_000238.4:c.(2536C>T) |
isolated CHD: Pm VSD |
V1440 |
Small Variation |
BMP2 |
NM_001200.4:c.109T>G |
isolated CHD: HLHS |
V1441 |
Small Variation |
IRX4 |
NM_016358.3:c.355G>A |
isolated CHD: HLHS |
V1453 |
Small Variation |
KMT2D |
NM_003482.3:c.10836G>A |
isolated CHD: HLHS |
V1457 |
Small Variation |
KMT2D |
NM_003482.3:c.2438C>T |
isolated CHD: HLHS |
V1462 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
isolated CHD: HLHS |
V1467 |
Small Variation |
NOTCH2 |
NM_024408.4:c.61G>A |
isolated CHD: HLHS |
V1468 |
Small Variation |
NOTCH2 |
NM_024408.4:c.57C>G |
isolated CHD: HLHS |
V1469 |
Small Variation |
PTCH1 |
NM_000264.5:c.3944C>T |
isolated CHD: HLHS |
V1481 |
Small Variation |
CITED2 |
NM_001168388.2:c.428G>C |
isolated CHD: PDA |
V1482 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
isolated CHD: ASD, AV block |
V1484 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
non-isolated CHD: ASD, SVAS, LVH |
V1485 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
isolated CHD: ASD, AV block |
V1486 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
isolated CHD: AV block |
V1503 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
V1565 |
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD: valvulo septal defects |
V1579 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD/VSD/AVSD/AC/AS/EA/PS/PDA/TOF |
V1580 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
NA: NA |
V1581 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: ASD |
V1582 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: VSD |
V1583 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: PAD |
V1584 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: TOF |
V1597 |
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD/non-isolated CHD: NA |
V1603 |
Small Variation |
KDR |
NM_002253.3:c.1416A>T |
isolated CHD/non-isolated CHD: NA |
V1605 |
Small Variation |
KDR |
NM_002253.3:c.889G>A |
isolated CHD/non-isolated CHD: NA |
V1618 |
Small Variation |
BCL-6 |
NM_001706.5:c.1477G>A |
isolated CHD/non-isolated CHD: NA |
V1621 |
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
NA: NA |
V1622 |
Small Variation |
BMP4 |
NM_001202.6:c.455T>C |
NA: NA |
V1623 |
Small Variation |
RNF41 |
NM_005785.4:c.206T>A |
NA: NA |
V1633 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
V1634 |
Small Variation |
TBX20 |
NM_001077653.2:c.766T>C |
isolated CHD: NA |
V1635 |
Small Variation |
TBX20 |
NM_001077653.2:c.657A>C |
isolated CHD: NA |
V1638 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS/TOF/DORV/TGV/EA/VSD/PS/ CoA/ASD |
V1647 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
V1649 |
Small Variation |
MTHFR |
NM_005957.5:c.1958G>A |
isolated CHD: NA |
V1653 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF |
V1657 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
V1658 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
isolated CHD/non-isolated CHD: NA |
V1659 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: NA |
V1662 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
V1663 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
V1664 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
V1665 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PDA |
V1666 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PFO |
V1667 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: CHD with PAH |
V1668 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: other |
V1730 |
Small Variation |
MEF2C |
NM_002397.5:c.43C>T |
non-isolated CHD: DORV, VSD |
V1735 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: TOF |
V1755 |
Small Variation |
FOXL1 |
NM_005250.3:c.926A>G |
isolated CHD: HLHS |
V1756 |
Small Variation |
MYH7 |
NM_000257.4:c.722C>T |
isolated CHD: EA |
V1764 |
Small Variation |
ZFPM2 |
NM_012082.4:c.2287G>A |
non-isolated CHD: TOF, MAPCA |
V1765 |
Small Variation |
NKX2-5 |
NM_004387.4:c.73C>T |
isolated CHD: TOF |
V1766 |
Small Variation |
MYH6 |
NM_002471.3:c.5477G>A |
isolated CHD: AS |
V1767 |
Small Variation |
MYH6 |
NM_002471.3:c.4822C>T |
isolated CHD: VSD |
V1768 |
Small Variation |
NKX2-5 |
NM_004387.4:c.919G>A |
non-isolated CHD: VSD, PS |
V1769 |
Small Variation |
MYH6 |
NM_002471.3:c.4193G>A |
isolated CHD: PS |
V1770 |
Small Variation |
NOTCH1 |
NM_017617.5:c.6949G>T |
isolated CHD: PS |
V1771 |
Small Variation |
GDF1 |
NM_198207.3:c.409G>A |
non-isolated CHD: VSD, CoA |
V1772 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5011G>A |
isolated CHD: CoA |
V1773 |
Small Variation |
TBX1 |
NM_005992.1:c.707G>T |
isolated CHD: TGV |
V1774 |
Small Variation |
MYH6 |
NM_002471.3:c.119C>G |
isolated CHD: VSD |
V1775 |
Small Variation |
ELN |
NM_001278939.1:c.593C>T |
isolated CHD: CAVC |
V1776 |
Small Variation |
TBX1 |
NM_005992.1:c.577G>C |
isolated CHD: CAVC |
V1777 |
Small Variation |
MYH6 |
NM_002471.3:c.831G>T |
isolated CHD: VSD |
V1778 |
Small Variation |
ZFPM2 |
NM_012082.4:c.260C>T |
non-isolated CHD: TGV, VSD, PS |
V1779 |
Small Variation |
MYH6 |
NM_002471.3:c.831G>T |
non-isolated CHD: PS, DOLV |
V1780 |
Small Variation |
ELN |
NM_001278939.1:c.493G>T |
non-isolated CHD: PA, VSD, MAPCA |
V1781 |
Small Variation |
ELN |
NM_001278939.1:c.892G>A |
non-isolated CHD: PA, VSD, MAPCA |
V1782 |
Small Variation |
GATA4 |
NM_002052.5:c.919C>T |
non-isolated CHD: ASD, PS |
V1783 |
Small Variation |
NKX2-5 |
NM_004387.4:c.351G>C |
isolated CHD: TOF |
V1784 |
Small Variation |
TBX20 |
NM_001077653.2:c.1006T>A |
isolated CHD: TOF |
V1792 |
Small Variation |
NACA |
NM_001365896.1:c.3848A>C |
isolated CHD: TOF |
V1793 |
Small Variation |
PCDHB4 |
NM_018938.4:c.1597T>A |
isolated CHD: TOF |
V1794 |
Small Variation |
PEX5 |
NM_001131023.1:c.178G>C |
isolated CHD: TOF |
V1797 |
Small Variation |
FAM47C |
NM_001013736.2:c.2146G>C |
isolated CHD: TOF |
V1798 |
Small Variation |
UBXN11 |
NM_183008.2:c.1510G>T |
isolated CHD: TOF |
V1799 |
Small Variation |
ODF2L |
NM_001007022.3:c.1093A>G |
isolated CHD: TOF |
V1800 |
Small Variation |
DSPP |
NM_014208.3:c.2206G>A |
isolated CHD: TOF |
V1801 |
Small Variation |
DSPP |
NM_014208.3:c.2215A>G |
isolated CHD: TOF |
V1802 |
Small Variation |
PKD2 |
NM_000297.4:c.568G>A |
isolated CHD: TOF |
V1803 |
Small Variation |
KRTAP5-7 |
NM_001012503.2:c.293A>G |
isolated CHD: TOF |
V1805 |
Small Variation |
ACAN |
NM_013227.3:c.4207A>G |
isolated CHD: TOF |
V1806 |
Small Variation |
ESX1 |
NM_153448.4:c.940A>C |
isolated CHD: TOF |
V1816 |
Small Variation |
TBX1 |
NM_005992.1:c.698C>A |
non-isolated CHD: TGA, VSD |
V1844 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: VSD/ASD/TOF |
V1845 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: VSD/ASD/TOF |
V1847 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: VSD/ASD/TOF |
V1848 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: VSD |
V1849 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: ASD |
V1850 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: TOF |
V1851 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: VSD |
V1852 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: ASD |
V1853 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: TOF |
V1854 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: VSD |
V1855 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: ASD |
V1856 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: TOF |
V2148 |
Small Variation |
CITED2 |
NM_006079.5:c.550G>A |
non-isolated CHD: TS, VSD |
V2149 |
Small Variation |
CITED2 |
NM_006079.5:c.574A>G |
non-isolated CHD: TS, VSD |
V2151 |
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
non-isolated CHD: TS, VSD |
V2163 |
Small Variation |
HOXB1 |
NM_002144.4:c.309A>T |
isolated CHD: DORV |
V2164 |
Small Variation |
HOXB1 |
NM_002144.4:c.309A>T |
isolated CHD: Pm VSD |
V2165 |
Small Variation |
HOXB1 |
NM_002144.4:c.309A>T |
isolated CHD: Pm VSD |
V2169 |
Small Variation |
NKX2-5 |
NM_004387.4:c.95A>T |
non-isolated CHD: TOF, VSD |
V2173 |
Small Variation |
MIB1 |
NM_020774.3:c.711G>C |
isolated CHD: PDA |
V2174 |
Small Variation |
MIB1 |
NM_020774.3:c.811T>G |
non-isolated CHD: VSD, ASD, PDA |
V2176 |
Small Variation |
MIB1 |
NM_020774.3:c.1558A>C |
non-isolated CHD: ASD, PS |
V2177 |
Small Variation |
MIB1 |
NM_020774.3:c.2186C>T |
normal: non CHD |
V2178 |
Small Variation |
TGFβ1 |
NM_000660.7:c.29C>T |
non-isolated CHD: TS, VSD |
V2179 |
Small Variation |
TGFβ1 |
NM_000660.7:c.74G>C |
non-isolated CHD: TS, VSD |
V2185 |
Small Variation |
MYH6 |
NM_002471.3:c.731G>A |
isolated CHD: OL |
V2186 |
Small Variation |
NF1 |
NM_000267.3:c.3560T>G |
isolated CHD: MOT |
V2187 |
Small Variation |
TLL1 |
NM_012464.5:c.2578A>G |
isolated CHD: MOT |
V2188 |
Small Variation |
TEK |
NM_000459.4:c.2744G>A |
non-isolated CHD: SDMA |
V2189 |
Small Variation |
HNRNPK |
NM_002140.4:c.1259C>T |
isolated CHD: SD |
V2191 |
Small Variation |
SCN5A |
NM_000335.4:c.874G>A |
non-isolated CHD: TA, PS |
V2192 |
Small Variation |
KCNH2 |
NM_000238.4:c.934C>T |
isolated CHD: ASD |
V2193 |
Small Variation |
KCNH2 |
NM_000238.4:c.1696T>C |
isolated CHD: TOF |
V2194 |
Small Variation |
KCNH2 |
NM_000238.4:c.1682C>T |
non-isolated CHD: VSD, RVOT stenosis |
V2196 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.89C>T |
isolated CHD: TOF |
V2197 |
Small Variation |
TBX1 |
NM_080647.1:c.1189A>C |
isolated CHD: TOF |
V2198 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.155C>G |
isolated CHD: TOF |
V2199 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.337G>A |
isolated CHD: TGA/VSD/ASD/PS |
V2200 |
Small Variation |
TBX1 |
NM_080647.1:c.1189A>C |
isolated CHD: TGA/VSD/ASD/PS |
V2201 |
Small Variation |
RIPPLY3 |
NM_018962.3:c.536T>A |
isolated CHD: PA/VSD/PDA |
V2202 |
Small Variation |
TBX1 |
NM_005992.1:c.928G>A |
isolated CHD: PA/VSD/PDA |
V2208 |
Small Variation |
NKX2-5 |
NM_004387.4:c.907G>A |
isolated CHD: TOF |
V2223 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
V2227 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD/non-isolated CHD: NA |
V2228 |
Small Variation |
SOX17 |
NM_022454.4:c.398C>T |
isolated CHD: ASD |
V2233 |
Small Variation |
SOX17 |
NM_022454.4:c.284A>G |
isolated CHD: PDA |
V2235 |
Small Variation |
SOX17 |
NM_022454.4:c.226A>G |
isolated CHD: PDA |
V2244 |
Small Variation |
HOXB1 |
NM_002144.4:c.309A>T |
isolated CHD: DORV |
V2245 |
Small Variation |
HOXB1 |
NM_002144.4:c.309A>T |
isolated CHD: Pm VSD |
V2248 |
Small Variation |
EPAS1 |
NM_001430.5:c.607A>C |
isolated CHD: PDA |
V2249 |
Small Variation |
EPAS1 |
NM_001430.5:c.2170G>T |
isolated CHD: VSD |
V2286 |
Small Variation |
AXIN2 |
NM_004655.4:c.28C>T |
isolated CHD: TOF |
V2287 |
Small Variation |
AXIN2 |
NM_004655.4:c.395A>G |
isolated CHD: MI |
V2288 |
Small Variation |
BMPR1A |
NM_004329.2:c.1328G>A |
isolated CHD: AVSD/ASD/VSD/EA/CMV |
V2290 |
Small Variation |
TBX1 |
NM_005992.1:c.385G>A |
non-isolated CHD: PA, SYPCA, VSD |
V2292 |
Small Variation |
MYH6 |
NM_002471.:c.831G>T |
non-isolated CHD: HLHS, Shone's Complex |
V2294 |
Small Variation |
EGLN1 |
NM_022051.2:c.380G>C |
isolated CHD: TOF/DORV/PTA/TGA/AVSD |
V2295 |
Small Variation |
EGLN1 |
NM_022051.2:c.380G>C |
isolated CHD: TOF/DORV/PTA/TGA/AVSD(combined with collateral vessel) |
V2326 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
V2327 |
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
V2331 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV |
V2332 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: VSD |
V2333 |
Small Variation |
GATA4 |
NM_002052.5:c.1309G>A |
isolated CHD: BAV |
V2335 |
Small Variation |
GATA4 |
NM_002052.5:c.1309G>A |
isolated CHD: ASD |
V2340 |
Small Variation |
BMPR2 |
NM_001204.7:c.304A>G |
isolated CHD: AVC |
V2341 |
Small Variation |
BMPR2 |
NM_001204.7:c.319T>C |
isolated CHD: AVC |
V2342 |
Small Variation |
BMPR2 |
NM_001204.7:c.556A>G |
non-isolated CHD: ASD, PDA |
V2379 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
NA: NA |
V2380 |
Small Variation |
MTHFR |
NM_005957.5:c.665C>T |
NA: NA |
V2381 |
Small Variation |
MTR |
NM_000254.2:c.2756A>G |
NA: NA |
V2383 |
Small Variation |
MTRR |
NM_024010.4:c.66A>G |
NA: NA |
V2385 |
Small Variation |
RFC1 |
NM_194255.4:c.80A>G |
NA: NA |
V2386 |
Small Variation |
GSTO1 |
NM_004832.3:c.419C>A |
NA: NA |
V2387 |
Small Variation |
MTHFR |
NM_005957.5:c.1286A>C |
NA: NA |
V2389 |
Small Variation |
CN2 |
NM_000355.4:c.776G>C |
NA: NA |
V2391 |
Small Variation |
MTHFD1 |
NM_005956.4 :c.1958G>A |
NA: NA |
V2392 |
Small Variation |
RFC1 |
NM_194255.4 :c.80A>G |
NA: NA |
V2393 |
Small Variation |
MTHFD1 |
NM_005956.4 :c.1958G>A |
NA: NA |
V2394 |
Small Variation |
MTHFR |
NM_005957.5 :c.1286A>C |
NA: NA |
V2471 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TOF |
V2472 |
Small Variation |
GATA4 |
NM_001308093.3:c.1223C>A |
non-isolated CHD: VSD, TOF |
V2473 |
Small Variation |
GATA4 |
NM_001308093.3:c.1141G>A |
non-isolated CHD: VSD, TOF |
V2477 |
Small Variation |
BVES |
NM_147147.3:c.407G>A |
isolated CHD: TOF |
V2531 |
Small Variation |
GATA4 |
NM_002052.5:c.1064C>G |
isolated CHD: ASD |
V2532 |
Small Variation |
GATA4 |
NM_002052.5:c.1064C>G |
non-isolated CHD: ASD, PDA |
V2552 |
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: ASD |
V2559 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
non-isolated CHD: ASD, PDA |
V2563 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
non-isolated CHD: ASD, VSD |
V2595 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: TOF, VSD, PS |
V2597 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
non-isolated CHD: ASD, VSD, PDA |
V2599 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
V2602 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: ASD |
V2604 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
V2605 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: VSD |