|
V0001
|
Small Variation |
NKX2-5 |
NM_004387.4:c.792C>A |
isolated CHD: ASD |
|
V0002
|
Small Variation |
MYOCD |
NM_001146312.2:c.776A>G |
NA: NA |
|
V0003
|
Small Variation |
HEY2 |
NA |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V0006
|
Small Variation |
TGFβ2 |
NM_001135599.3:c.597T>C |
isolated CHD: TOF/PA/TGA/DOLV/DORV |
|
V0007
|
Small Variation |
HHEX |
NM_002729.5:N/A |
isolated CHD/non-isolated CHD: NA |
|
V0008
|
Small Variation |
SMAD3 |
NM_001145102.1:c.3G>A |
non-isolated CHD: HLHS, AVS |
|
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 |
|
V0014
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218345083_218345086delCTTC |
isolated CHD: TOF |
|
V0015
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218345173A>C |
isolated CHD: TOF |
|
V0016
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218345400A>G |
isolated CHD: TOF |
|
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 |
|
V0019
|
Small Variation |
HOXA1 |
NM_005522.4:c.211_213delCAC |
isolated CHD: VSD |
|
V0020
|
Small Variation |
HOXA1 |
NM_005522.4:c.205_213delCACCACCAC |
isolated CHD: VSD |
|
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 |
|
V0032
|
Small Variation |
CFC1 |
NM_001270420.1:c.(520_522del) |
non-isolated CHD: DORV, VSD, HAA |
|
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 |
|
V0036
|
Small Variation |
NKX2-5 |
NM_004387.4:c.171C>G |
isolated CHD: ASD |
|
V0037
|
Small Variation |
MS |
NA |
isolated CHD: VSD |
|
V0038
|
Small Variation |
MS |
NA |
isolated CHD: ASD |
|
V0039
|
Small Variation |
MS |
NA |
isolated CHD: PDA |
|
V0040
|
Small Variation |
MS |
NA |
isolated CHD: TOF |
|
V0041
|
Small Variation |
MS |
NA |
isolated CHD/non-isolated CHD: DORV, HLV/CoA, VSD/VSD/SV, PS |
|
V0042
|
Small Variation |
MS |
NA |
isolated CHD: NA |
|
V0043
|
Small Variation |
MS |
NA |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V0047
|
Small Variation |
MS |
NA |
isolated CHD: NA |
|
V0048
|
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: NA |
|
V0049
|
Small Variation |
CBS |
NM_000071.2:c.844_845ins68 |
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 |
|
V0058
|
Small Variation |
HOXC4 |
NC_000012.12:g.54024359A>C |
isolated CHD: NA |
|
V0059
|
Small Variation |
HOXC4 |
NC_000012.12:g.54034748C>T |
isolated CHD: NA |
|
V0060
|
Small Variation |
HOXC4 |
NC_000012.12:g.54053018G>A |
isolated CHD: NA |
|
V0061
|
Small Variation |
GATA4 |
NM_002052.5:c.216C>G |
isolated CHD: TOF |
|
V0062
|
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
V0063
|
Small Variation |
NKX2-5 |
NM_004387.4:c.312delG |
non-isolated CHD: AS, PVS |
|
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 |
|
V0073
|
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
isolated CHD: MVA |
|
V0074
|
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
non-isolated CHD: DCM, apicolateral hypertrophy |
|
V0075
|
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
non-isolated CHD: MVS, LV |
|
V0076
|
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
isolated CHD: CHD with PAH |
|
V0077
|
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, AV block, AF |
|
V0078
|
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, VSD, AV block |
|
V0079
|
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PAS, AV block |
|
V0080
|
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PFO, AV block |
|
V0081
|
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PFO, AV block |
|
V0082
|
Small Variation |
GATA4 |
NM_002052.5:c.278G>C |
isolated CHD: ASD |
|
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 |
|
V0090
|
Small Variation |
GATA4 |
NM_002052.5:c.946C>G |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
V0100
|
Small Variation |
GATA4 |
NM_002052.5:c.17C>T |
isolated CHD: VSD |
|
V0101
|
Small Variation |
GATA4 |
NM_002052.5:c.354_355insGCC |
isolated CHD: TOF |
|
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 |
|
V0104
|
Small Variation |
GATA4 |
NM_002052.5:c.136_138delTCC |
isolated CHD: VSD |
|
V0105
|
Small Variation |
GATA4 |
NM_002052.5:c.374_375insTGCCGC |
isolated CHD: VSD |
|
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 |
|
V0111
|
Small Variation |
GATA4 |
NM_002052.5:c.723C>T |
isolated CHD: NA |
|
V0112
|
Small Variation |
GATA4 |
NM_002052.5:c.783+106G>A |
isolated CHD: NA |
|
V0113
|
Small Variation |
GATA4 |
NM_002052.5:c.784-16G>A |
isolated CHD: NA |
|
V0114
|
Small Variation |
GATA4 |
NM_002052.5:c.975G>A |
isolated CHD: ASD |
|
V0115
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: NA |
|
V0116
|
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: NA |
|
V0117
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: NA |
|
V0118
|
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: VSD |
|
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 |
|
V0121
|
Small Variation |
GATA4 |
NM_002052.5:c.91C>T |
isolated CHD: NA |
|
V0122
|
Small Variation |
CHD7 |
NM_017780.4:c.2699+34G>A |
NA: NA |
|
V0123
|
Small Variation |
CHD7 |
NM_017780.4:c.3272+39G>A |
NA: NA |
|
V0124
|
Small Variation |
CHD7 |
NM_017780.4:c.3991+127A>G |
NA: NA |
|
V0125
|
Small Variation |
CHD7 |
NM_017780.4:c.4235+21T>G |
NA: NA |
|
V0126
|
Small Variation |
CHD7 |
NM_017780.4:c.4236-5T>C |
NA: NA |
|
V0127
|
Small Variation |
CHD7 |
NM_017780.4:c.4557-35C>G |
NA: NA |
|
V0128
|
Small Variation |
CHD7 |
NM_017780.4:c5023+51C>A |
NA: NA |
|
V0129
|
Small Variation |
NKX2-5 |
NM_004387.4:N/A |
non-isolated CHD: EA, WPW |
|
V0130
|
Small Variation |
NKX2-5 |
NM_004387.4:N/A |
isolated CHD: TOF |
|
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 |
|
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 |
|
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 |
|
V0140
|
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
NA: NA |
|
V0141
|
Small Variation |
MIR149 |
NR_029702.1:n.86T>C |
NA: NA |
|
V0142
|
Small Variation |
MIR499A |
NR_030223.1:n.73A>G |
NA: NA |
|
V0143
|
Small Variation |
GATA4 |
NM_002052.5:c.15G>A |
non-isolated CHD: TOF, PA |
|
V0144
|
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
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 |
|
V0155
|
Small Variation |
ALDH1A2 |
NM_003888.4:c.453A>G |
NA: NA |
|
V0156
|
Small Variation |
ALDH1A2 |
NC_000015.10:g.58014104G>A |
NA: NA |
|
V0157
|
Small Variation |
ALDH1A2 |
NM_003888.4:c.160-422G>A |
NA: NA |
|
V0158
|
Small Variation |
ALDH1A2 |
NM_003888.4:c.25-422G>C |
NA: NA |
|
V0159
|
Small Variation |
ALDH1A2 |
NM_003888.4:c.116+613G>T |
NA: NA |
|
V0160
|
Small Variation |
ALDH1A2 |
NM_003888.4:c.92+742_92+743InsA |
NA: NA |
|
V0161
|
Small Variation |
ALDH1A2 |
NC_000015.10:g.57965649C>T |
NA: NA |
|
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 |
|
V0170
|
Small Variation |
NODAL |
NM_018055.5:c.892-1G>C |
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 |
|
V0176
|
Small Variation |
GATA4 |
NM_002052.5:c.99G>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 |
|
V0179
|
Small Variation |
NKX2-5 |
NM_004387.4:c.762delC |
isolated CHD: ASDII, AV block II |
|
V0180
|
Small Variation |
ISL1 |
NM_002202.3:c.-492A>G |
NA: NA, AVR |
|
V0181
|
Small Variation |
ISL1 |
NM_002202.3:c.28+17C>T |
NA: NA, AVR |
|
V0182
|
Small Variation |
ISL1 |
NM_002202.3:c.*651A>T |
NA: NA, AVR |
|
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 |
|
V0185
|
Small Variation |
GATA6 |
NM_005257.5:c.222G>A |
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 |
|
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 |
|
V0191
|
Small Variation |
CITED2 |
NM_001168388.2:c.573_578del |
non-isolated CHD: AS, PS |
|
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 |
|
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 |
|
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 |
|
V0198
|
Small Variation |
TMEM121 |
NC_000014.9:g.105529715_105529717dupGCC |
NA: NA |
|
V0199
|
Small Variation |
HAND2 |
NM_021973.3:c.32C>G |
isolated CHD: TOF |
|
V0200
|
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: PS |
|
V0201
|
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: DORV |
|
V0202
|
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: PS |
|
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 |
|
V0206
|
Small Variation |
HAND2 |
NM_021973.3:c.42C>T |
non-isolated CHD: TOF, ASD |
|
V0207
|
Small Variation |
HAND2 |
NM_021973.3:c.-697A>G |
isolated CHD: AVSD |
|
V0208
|
Small Variation |
HAND2 |
NM_021973.3:c.-334C>T |
isolated CHD: TOF |
|
V0209
|
Small Variation |
HAND2 |
NM_021973.3:c.*869T>A |
isolated CHD: TOF |
|
V0210
|
Small Variation |
HAND2 |
NM_021973.3:c.-101delG |
NA: NA |
|
V0211
|
Small Variation |
HAND2 |
NM_021973.3:c.153C>G |
NA: NA |
|
V0212
|
Small Variation |
HAND2 |
NM_021973.3:c.*608G>A |
NA: NA |
|
V0213
|
Small Variation |
HAND2 |
NM_021973.3:c.3236A>G |
NA: NA |
|
V0214
|
Small Variation |
HAND2 |
NM_021973.3:c.*1273_*1274insT |
NA: NA |
|
V0215
|
Small Variation |
GATA4 |
NM_002052.5:c.206G>A |
non-isolated CHD: VSD, PAPVC, PFO |
|
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 |
|
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 |
|
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 |
|
V0230
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
NA: C-CHD |
|
V0231
|
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: NA |
|
V0232
|
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: TGA |
|
V0233
|
Small Variation |
GATA4 |
NM_002052.5:c.50745A>T |
isolated CHD: NA |
|
V0234
|
Small Variation |
GATA4 |
NM_002052.5:c.50946A>C |
isolated CHD: NA |
|
V0235
|
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: other |
|
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 |
|
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 |
|
V0242
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: Pm VSD |
|
V0243
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: PS |
|
V0244
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: CAVC |
|
V0245
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: valvulo septal defects |
|
V0246
|
Small Variation |
NFATC1 |
NM_006162.5:c.(2251T>G) |
isolated CHD: valvulo septal defects |
|
V0247
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V0248
|
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
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 |
|
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 |
|
V0255
|
Small Variation |
TFAP2B |
NM_003221.4:c.1-34G>A |
isolated CHD: PDA |
|
V0256
|
Small Variation |
TFAP2B |
NM_003221.4:c.539+62G>C |
isolated CHD: PDA |
|
V0257
|
Small Variation |
TFAP2B |
NM_003221.4:c.601+5G>A |
isolated CHD: PDA |
|
V0258
|
Small Variation |
TFAP2B |
NM_003221.4:c.435_438delCCGG |
isolated CHD: PDA |
|
V0259
|
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD/non-isolated CHD: CTDs/SD/LVOTO/RVOTO/APVR/complex CHD/other |
|
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 |
|
V0270
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173232508C>A |
isolated CHD: TGA |
|
V0271
|
Small Variation |
GATA4 |
NM_002052.5:c.783+51G>A |
isolated CHD: TGA |
|
V0272
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: TGA |
|
V0273
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TGA |
|
V0274
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
V0275
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: HLHS |
|
V0276
|
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TGA |
|
V0277
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: TGA |
|
V0278
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: HLHS |
|
V0279
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: HLHS |
|
V0280
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: HLHS |
|
V0281
|
Small Variation |
GATA4 |
NM_002052.5:c.997+321G>A |
isolated CHD: HLHS |
|
V0282
|
Small Variation |
HAND1 |
NM_004821.3:c.468T>G |
isolated CHD: HLHS |
|
V0283
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>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 |
|
V0287
|
Small Variation |
GATA4 |
NM_002052.5:c.909+25G>A |
isolated CHD: HLHS |
|
V0288
|
Small Variation |
HAND1 |
NM_004821.3:c.543+30A>T |
isolated CHD: HLHS |
|
V0289
|
Small Variation |
GATA4 |
NM_002052.5:N/A |
isolated CHD: VSD |
|
V0290
|
Small Variation |
GATA4 |
NM_002052.5:c.127C>T |
isolated CHD: VSD |
|
V0291
|
Small Variation |
GATA4 |
NM_002052.5:N/A |
non-isolated CHD: VSD, PDA, PAS |
|
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 |
|
V0298
|
Small Variation |
GJA1 |
NM_000165.5:N/A |
isolated CHD: ALCAPA |
|
V0299
|
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: ASD |
|
V0300
|
Small Variation |
RTN4 |
AY102279.1:g.4548_
4554insCAA |
isolated CHD: ASD |
|
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 |
|
V0342
|
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD: VSD |
|
V0343
|
Small Variation |
TBX20 |
NG_015805.1:g.4741G>A |
isolated CHD: VSD |
|
V0344
|
Small Variation |
TBX20 |
NG_015805.1:g.4932G>A |
isolated CHD: VSD |
|
V0345
|
Small Variation |
TBX20 |
NG_015805.1:g.5198G>A |
isolated CHD: VSD |
|
V0346
|
Small Variation |
TBX20 |
NC_000007.14:g.35253806A>G |
isolated CHD: VSD |
|
V0347
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V0348
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: PDA |
|
V0349
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: VSD |
|
V0350
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
V0351
|
Small Variation |
PTPN11 |
NC_000012.12:g.112468611A>G |
isolated CHD: TOF |
|
V0352
|
Small Variation |
HEY2 |
NC_000006.12:g.124839101C>T |
isolated CHD: TOF |
|
V0353
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173236451C>T |
isolated CHD: TOF |
|
V0354
|
Small Variation |
FGF10 |
NC_000005.10:g.44395913G>A |
isolated CHD: TOF |
|
V0355
|
Small Variation |
CRKL |
NC_000022.11:g.20961970G>C |
isolated CHD: TOF |
|
V0356
|
Small Variation |
GATA4 |
NC_000008.11:g.11750421C>T |
isolated CHD: TOF |
|
V0357
|
Small Variation |
PTPN11 |
NC_000012.12::g.112468611A>G |
isolated CHD: TOF |
|
V0358
|
Small Variation |
NKX2-5 |
NG_013340.1:g.4209A>G |
isolated CHD: VSD |
|
V0359
|
Small Variation |
NKX2-5 |
NG_013340.1:g.4574delC |
isolated CHD: VSD |
|
V0360
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235491T>C |
isolated CHD: VSD |
|
V0361
|
Small Variation |
NKX2-5 |
NM_004387.4:c.-100G>A |
isolated CHD: VSD |
|
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 |
|
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 |
|
V0369
|
Small Variation |
GATA5 |
NM_080473.5:c.609C>T |
isolated CHD: BAV |
|
V0370
|
Small Variation |
GATA5 |
NC_000020.11:g.62475569G>A |
isolated CHD: BAV |
|
V0371
|
Small Variation |
GATA5 |
NM_080473.5:c.852G>A |
isolated CHD: BAV |
|
V0372
|
Small Variation |
GATA5 |
NC_000020.11:g.62466597G>C |
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 |
|
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 |
|
V0382
|
Small Variation |
TBX1 |
NC_000022.11:g.19755901C>T |
isolated CHD: VSD |
|
V0383
|
Small Variation |
TBX1 |
NG_009229.1:g.4353C>T |
isolated CHD: VSD |
|
V0384
|
Small Variation |
TBX1 |
NG_009229.1:g.4510A>C |
isolated CHD: VSD |
|
V0385
|
Small Variation |
NKX2-5 |
NG_013340:g.1467G>A |
isolated CHD: VSD |
|
V0386
|
Small Variation |
NKX2-5 |
NG_013340:g.1483_1484insGTGGCC(T)GGCCCCG |
isolated CHD: VSD |
|
V0387
|
Small Variation |
NKX2-5 |
NG_013340:g.1515_1516InsGCGGAG |
isolated CHD: VSD |
|
V0388
|
Small Variation |
TLL1 |
NM_001204760.2:c.60_61insA |
isolated CHD: ASD |
|
V0389
|
Small Variation |
SIRT1 |
NC_000010.11:g.67883935A>G |
isolated CHD: VSD |
|
V0390
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884205A>T |
isolated CHD: VSD |
|
V0391
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884213G>A |
isolated CHD: VSD |
|
V0392
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884608_67884609insGGGTCACGTGATGGGGT |
isolated CHD: VSD |
|
V0393
|
Small Variation |
SIRT1 |
NC_000010.11:g.67883949A>C |
isolated CHD: VSD |
|
V0394
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884001A>T |
isolated CHD: VSD |
|
V0395
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884116C>A |
isolated CHD: VSD |
|
V0396
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884201A>G |
isolated CHD: VSD |
|
V0397
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884451C>G |
isolated CHD: VSD |
|
V0398
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884455G>A |
isolated CHD: VSD |
|
V0399
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884459A>C |
isolated CHD: VSD |
|
V0400
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884461G>A |
isolated CHD: VSD |
|
V0401
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884482G>T |
isolated CHD: VSD |
|
V0402
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884510T>A |
isolated CHD: VSD |
|
V0403
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884577A>G |
isolated CHD: VSD |
|
V0404
|
Small Variation |
SIRT1 |
NC_000010.11:g.67884583G>C |
isolated CHD: VSD |
|
V0405
|
Small Variation |
SIRT1 |
NC_000010.11:g.69644351G>A |
isolated CHD: VSD |
|
V0406
|
Small Variation |
SIRT1 |
NC_000010.11:g.69644441G>A |
isolated CHD: VSD |
|
V0407
|
Small Variation |
GATA4 |
NM_002052.5:c.-229T>A |
isolated CHD: VSD |
|
V0408
|
Small Variation |
GATA4 |
NM_002052.5:c.-179T>G |
isolated CHD: VSD |
|
V0409
|
Small Variation |
GATA4 |
NM_002052.5:c.-156G>A |
isolated CHD: ASD |
|
V0410
|
Small Variation |
GATA4 |
NM_002052.5:c.-113A>G |
isolated CHD: PDA |
|
V0411
|
Small Variation |
GATA4 |
NM_002052.5:c.-110A>G |
non-isolated CHD: PDA, VSD |
|
V0412
|
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: TOF |
|
V0413
|
Small Variation |
GATA4 |
NM_002052.5:c.784-16G>A |
isolated CHD: PDA |
|
V0414
|
Small Variation |
GATA4 |
NM_002052.5:c.788C>G |
isolated CHD: VSD |
|
V0415
|
Small Variation |
GATA4 |
NM_002052.5:c.910-58T>A |
isolated CHD: TOF |
|
V0416
|
Small Variation |
GATA4 |
NM_002052.5:c.910-42G>A |
isolated CHD: TGA |
|
V0417
|
Small Variation |
GATA4 |
NM_002052.5:c.998-36C>T |
isolated CHD: ASD |
|
V0418
|
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: ASD |
|
V0419
|
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: PDA |
|
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 |
|
V0422
|
Small Variation |
GATA4 |
NM_002052.5:c.1329+84C>T |
isolated CHD: VSD |
|
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 |
|
V0425
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: PDA |
|
V0426
|
Small Variation |
TFAP2B |
NM_003221.4:c.-34G>A |
isolated CHD: VSD |
|
V0427
|
Small Variation |
TFAP2B |
NM_003221.4:c.31A>G |
isolated CHD: ECD |
|
V0428
|
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: VSD |
|
V0429
|
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: ASD |
|
V0430
|
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: PDA |
|
V0431
|
Small Variation |
TFAP2B |
NM_003221.4:c.821+86C>T |
isolated CHD: PDA |
|
V0432
|
Small Variation |
TFAP2B |
NM_003221.4:c.821+86C>T |
isolated CHD: ASD |
|
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 |
|
V0442
|
Small Variation |
GATA6 |
NM_005257.5:c.1378G>T |
isolated CHD: TOF |
|
V0443
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V0444
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V0445
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V0446
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0447
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: non-CTD |
|
V0448
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0449
|
Small Variation |
GDF1 |
NC_000019.10:g.18879050G>A |
isolated CHD: non-CTD |
|
V0450
|
Small Variation |
GDF1 |
NC_000019.10:g.18879050G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V0451
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: TOF |
|
V0452
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: PA |
|
V0453
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
non-isolated CHD: PA, IVS |
|
V0454
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
non-isolated CHD: PA, VSD |
|
V0455
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: TGA |
|
V0456
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: DORV |
|
V0457
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: PTA |
|
V0458
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AP window |
|
V0459
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: ASD |
|
V0460
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: VSD |
|
V0461
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AVSD |
|
V0462
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: PDA |
|
V0463
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: NA |
|
V0464
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD/non-isolated CHD: NA |
|
V0465
|
Small Variation |
GDF1 |
NC_000019.10:g.18879050G>A |
isolated CHD/non-isolated CHD: NA |
|
V0466
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD/non-isolated CHD: NA |
|
V0467
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: ECD |
|
V0468
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: SV |
|
V0469
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: HLHS |
|
V0470
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: TAPVR |
|
V0471
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: EA |
|
V0472
|
Small Variation |
TBX3 |
NG_008315.1:g.3863C>T |
isolated CHD: VSD |
|
V0473
|
Small Variation |
TBX3 |
NG_008315.1:g.3913_3914insCATCCA |
isolated CHD: VSD |
|
V0474
|
Small Variation |
TBX3 |
NC_000012.12:g.114685070C>A |
isolated CHD: VSD |
|
V0475
|
Small Variation |
TBX3 |
NG_008315.1:g.4433_4435delAGA |
isolated CHD: VSD |
|
V0476
|
Small Variation |
TBX3 |
NG_008315.1:g.4672_4675delGCGA |
isolated CHD: VSD |
|
V0477
|
Small Variation |
TBX3 |
NG_008315.1:g.4735_4736insGC |
isolated CHD: VSD |
|
V0478
|
Small Variation |
TBX3 |
NG_008315.1:g.4820_4821delCA |
isolated CHD: VSD |
|
V0479
|
Small Variation |
MYH7 |
NM_000257.4:c.2010_2031inv |
non-isolated CHD: LVNC, VSD |
|
V0480
|
Small Variation |
GATA6 |
NM_005257.5:c.1099G>T |
isolated CHD: TOF |
|
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 |
|
V0484
|
Small Variation |
NFATC1 |
NC_000018.10:g.79414220T>C |
isolated CHD: VSD |
|
V0485
|
Small Variation |
NFATC1 |
NC_000018.10:g.79454468C>T |
isolated CHD: VSD |
|
V0486
|
Small Variation |
NFATC1 |
NC_000018.10:g.79466368G>A |
isolated CHD: VSD |
|
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 |
|
V0489
|
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V0490
|
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: VSD |
|
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 |
|
V0493
|
Small Variation |
ZIC3 |
NM_003413.4:c.162_163insCGC |
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 |
|
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 |
|
V0503
|
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>A |
NA: C-CHD |
|
V0504
|
Small Variation |
GATA4 |
NM_001308093.1:c.617-16C>T |
NA: C-CHD |
|
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 |
|
V0508
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
NA: C-CHD |
|
V0509
|
Small Variation |
GATA4 |
NM_001308093.1:c.975G>A |
isolated CHD: ASD |
|
V0510
|
Small Variation |
GATA4 |
NM_001308093.1:c.221C>A |
isolated CHD: PS |
|
V0511
|
Small Variation |
GATA4 |
NM_001308093.1:c.1147-107A>G |
NA: C-CHD |
|
V0512
|
Small Variation |
GATA4 |
NM_001308093.1:c.1147-76C>A |
NA: C-CHD |
|
V0513
|
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0524
|
Small Variation |
NKX2-5 |
NT_023133.1:g.17483564C>T |
isolated CHD: VSD |
|
V0525
|
Small Variation |
NKX2-5 |
NT_023133.1:g.17483576C>G |
isolated CHD: VSD |
|
V0526
|
Small Variation |
NKX2-5 |
NT_023133.1:g.17483557_17483558insC |
isolated CHD: VSD |
|
V0527
|
Small Variation |
TBX2 |
NC_000017.10:g.59477201C>T |
isolated CHD: VSD |
|
V0528
|
Small Variation |
TBX2 |
NC_000017.10:g.59477347G>A |
isolated CHD: VSD |
|
V0529
|
Small Variation |
TBX2 |
NC_000017.10:g.59477371G>A |
isolated CHD: VSD |
|
V0530
|
Small Variation |
TBX2 |
NC_000017.10:g.59477353delG |
isolated CHD: VSD |
|
V0531
|
Small Variation |
TBX2 |
NC_000017.10:g.59476307G>C |
isolated CHD: VSD |
|
V0532
|
Small Variation |
TBX2 |
NC_000017.10:g.59476704G>C |
isolated CHD: VSD |
|
V0533
|
Small Variation |
TBX2 |
NC_000017.10:g.59476316C>A |
isolated CHD: VSD |
|
V0534
|
Small Variation |
TBX2 |
NC_000017.10:g.59476415T>C |
isolated CHD: VSD |
|
V0535
|
Small Variation |
TBX2 |
NC_000017.10:g.59476510G>C |
isolated CHD: VSD |
|
V0536
|
Small Variation |
TBX2 |
NC_000017.10:g.59476892C>T |
isolated CHD: VSD |
|
V0537
|
Small Variation |
TBX18 |
NC_000006.12:g.84765256G>T |
isolated CHD: VSD |
|
V0538
|
Small Variation |
TBX18 |
NC_000006.12:g.84765234A>T |
isolated CHD: VSD |
|
V0539
|
Small Variation |
TBX18 |
NC_000006.12:g.84765229G>A |
isolated CHD: VSD |
|
V0540
|
Small Variation |
TBX18 |
NC_000006.12:g.84765159G>C |
isolated CHD: VSD |
|
V0541
|
Small Variation |
TBX18 |
NC_000006.12:g.84765153G>A |
isolated CHD: VSD |
|
V0542
|
Small Variation |
TBX18 |
NC_000006.12:g.84764930G>C |
isolated CHD: VSD |
|
V0543
|
Small Variation |
TBX18 |
NC_000006.12:g.84764717del |
isolated CHD: VSD |
|
V0544
|
Small Variation |
TBX18 |
NC_000006.12:g.[84764700=];[84764700C>T] |
isolated CHD: VSD |
|
V0545
|
Small Variation |
TBX18 |
NC_000006.12:g.[84764401=];[84764401C>T] |
isolated CHD: VSD |
|
V0546
|
Small Variation |
TBX18 |
NC_000006.12:g.[84764247=];[84764247C>G] |
isolated CHD: VSD |
|
V0547
|
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V0548
|
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
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 |
|
V0559
|
Small Variation |
SMAD7 |
NM_005904.3:c.1172C>T |
isolated CHD: NA |
|
V0560
|
Small Variation |
SMAD7 |
NM_005904.3:c.1247C>A |
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 |
|
V0572
|
Small Variation |
SMAD7 |
NM_005904.3:c.1281+23G>A |
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 |
|
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 |
|
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 |
|
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 |
|
V0581
|
Small Variation |
MESP1 |
NM_018670.3:c.165_166insGTGCCGAGCCCC |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V0592
|
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
isolated CHD/non-isolated CHD: NA |
|
V0593
|
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
isolated CHD: SD/PDA/other |
|
V0594
|
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
non-isolated CHD: NA |
|
V0595
|
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
NA: Septa and valve abnormalities |
|
V0596
|
Small Variation |
MIR-34b/MIR34C |
NC_000011.10:g.111511840T>C |
NA: NA |
|
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 |
|
V0606
|
Small Variation |
ZIC3 |
NM_003413.4:c.157_159dupGCC |
non-isolated CHD: PS, D-TGA, VSD |
|
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 |
|
V0609
|
Small Variation |
ISL1 |
NM_002202.3:c.*539G>T |
isolated CHD: ASD/VSD |
|
V0610
|
Small Variation |
ISL1 |
NM_002202.3:c.*651A>T |
isolated CHD: ASD/VSD |
|
V0611
|
Small Variation |
NOTCH1 |
NM_017617.5:c.(3836G>A) |
isolated CHD: CoA |
|
V0612
|
Small Variation |
NOTCH1 |
NG_007458.1,:g.30667C>T |
isolated CHD: HAA |
|
V0613
|
Small Variation |
NOTCH1 |
NG_007458.1,:g.38735C>T |
isolated CHD: LVOTO |
|
V0614
|
Small Variation |
NOTCH1 |
NG_007458.1,:g.39335G>A |
isolated CHD: LVOTO |
|
V0615
|
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V0616
|
Small Variation |
TGFβR2 |
NM_003242.6:c.-1216A>G |
isolated CHD/non-isolated CHD: TOF/TOF, ASD/TOF, PDA/TOF, ASD, PDA/TGA, VSD/TGA, ASD/TGA, VSD, ASD/TGA, VSD, ASD, PDA |
|
V0617
|
Small Variation |
VEGFA |
NM_003376.6:c.-2055A>C |
isolated CHD/non-isolated CHD: TOF/TOF, ASD/TOF, PDA/TOF, ASD, PDA/TGA, VSD/TGA, ASD/TGA, VSD, ASD/TGA, VSD, ASD, PDA |
|
V0618
|
Small Variation |
VEGFA |
NM_003376.6:c.-958C>T |
isolated CHD/non-isolated CHD: TOF/TOF, ASD/TOF, PDA/TOF, ASD, PDA/TGA, VSD/TGA, ASD/TGA, VSD, ASD/TGA, VSD, ASD, PDA |
|
V0619
|
Small Variation |
VEGFA |
NM_003376.6:c.-94C>G |
isolated CHD/non-isolated CHD: TOF/TOF, ASD/TOF, PDA/TOF, ASD, PDA/TGA, VSD/TGA, ASD/TGA, VSD, ASD/TGA, VSD, ASD, PDA |
|
V0620
|
Small Variation |
VEGFA |
NM_003376.6:c.*237C>T |
isolated CHD/non-isolated CHD: TOF/TOF, ASD/TOF, PDA/TOF, ASD, PDA/TGA, VSD/TGA, ASD/TGA, VSD, ASD/TGA, VSD, ASD, PDA |
|
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 |
|
V0623
|
Small Variation |
CITED2 |
NM_001168388.2:c.573_578del6 |
non-isolated CHD: AS, PVS |
|
V0624
|
Small Variation |
CITED2 |
NM_001168388.2:c.573_578del6 |
non-isolated CHD: VSD, 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 |
|
V0658
|
Small Variation |
FANCM |
NM_020937.4:c.5101C>T |
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 |
|
V0664
|
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V0665
|
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
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 |
|
V0673
|
Small Variation |
GATA5 |
NM_080473.5:c.624C>A |
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 |
|
V0679
|
Small Variation |
DLC1 |
NM_006094.5:c.4533C>G |
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 |
|
V0687
|
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: ASD |
|
V0688
|
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: VSD |
|
V0689
|
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: TOF |
|
V0690
|
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: ASD/VSD/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 |
|
V0695
|
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: ASD |
|
V0696
|
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: VSD |
|
V0697
|
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: TOF |
|
V0698
|
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: ASD/VSD/TOF |
|
V0699
|
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: ASD |
|
V0700
|
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: VSD |
|
V0701
|
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: TOF |
|
V0702
|
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: ASD/VSD/TOF |
|
V0703
|
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: ASD |
|
V0704
|
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: VSD |
|
V0705
|
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: TOF |
|
V0706
|
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: ASD/VSD/TOF |
|
V0707
|
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD |
|
V0708
|
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: VSD |
|
V0709
|
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: TOF |
|
V0710
|
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD/VSD/TOF |
|
V0711
|
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: TOF |
|
V0712
|
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: ASD/VSD/TOF |
|
V0713
|
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: ASD |
|
V0714
|
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: VSD |
|
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 |
|
V0718
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V0719
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V0720
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
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 |
|
V0724
|
Small Variation |
MIR143 |
NC_000005.10:g.149428827G>A |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V0730
|
Small Variation |
GATA6 |
NM_005257.5:c.733G>C |
isolated CHD: PTA |
|
V0731
|
Small Variation |
GATA6 |
NC_000018.10:g.22172288C>G |
isolated CHD/non-isolated CHD: CTDs |
|
V0732
|
Small Variation |
GATA6 |
NM_005257.5:c.10501-60C>T |
isolated CHD/non-isolated CHD: CTDs |
|
V0733
|
Small Variation |
GATA6 |
NM_005257.5:c.10501-85T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0734
|
Small Variation |
GATA6 |
NM_005257.5:c.16589+6T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V0735
|
Small Variation |
GATA6 |
NM_005257.5:c.16589+7A>G |
isolated CHD/non-isolated CHD: CTDs |
|
V0736
|
Small Variation |
GATA6 |
NM_005257.5:c.72G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V0737
|
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
|
V0738
|
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V0739
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V0740
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: TOF |
|
V0741
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: Pm VSD |
|
V0742
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: ASD |
|
V0743
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: PDA |
|
V0744
|
Small Variation |
SCN5A |
NM_000335.4:c.4485C>A |
non-isolated CHD: AV block, TOF |
|
V0745
|
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: ASD |
|
V0746
|
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: VSD |
|
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 |
|
V0749
|
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: ASD |
|
V0750
|
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: VSD |
|
V0751
|
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: ASD |
|
V0752
|
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: VSD |
|
V0753
|
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: VSD/ASD |
|
V0754
|
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: VSD/ASD |
|
V0755
|
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: VSD/ASD |
|
V0756
|
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>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 |
|
V0761
|
Small Variation |
GATA6 |
NC_000018.10:g.22168449A>G |
isolated CHD: VSD |
|
V0762
|
Small Variation |
GATA6 |
NC_000018.10:g.22168944G>A |
isolated CHD: VSD |
|
V0763
|
Small Variation |
GATA6 |
NC_000018.10:g.22168974G>A |
isolated CHD: VSD |
|
V0764
|
Small Variation |
GATA6 |
NC_000018.10:g.22169190A>T |
isolated CHD: VSD |
|
V0765
|
Small Variation |
GATA6 |
NC_000018.10:g.22169233C>A |
isolated CHD: VSD |
|
V0766
|
Small Variation |
GATA6 |
NC_000018.10:g.22169265G>A |
isolated CHD: VSD |
|
V0767
|
Small Variation |
GATA6 |
NC_000018.10:g.22169278G>A |
isolated CHD: VSD |
|
V0768
|
Small Variation |
GATA6 |
NC_000018.10:g.22169311C>G |
isolated CHD: VSD |
|
V0769
|
Small Variation |
GATA6 |
NC_000018.10:g.22169345C>T |
isolated CHD: VSD |
|
V0770
|
Small Variation |
GATA6 |
NC_000018.10:g.22169346C>G |
isolated CHD: VSD |
|
V0771
|
Small Variation |
GATA6 |
NC_000018.10:g.22169391_22169398delCCTCCTCC |
isolated CHD: VSD |
|
V0772
|
Small Variation |
FOXA2 |
NM_153675.3:c.-2+4_-2+17del |
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 |
|
V0775
|
Small Variation |
FOXH1 |
NM_003923.3:c.-543C>T |
isolated CHD: TOF |
|
V0776
|
Small Variation |
FOXH1 |
NM_003923.3:c.-333T>C |
isolated CHD: TOF |
|
V0777
|
Small Variation |
FOXH1 |
NM_003923.3:c.-136delC |
isolated CHD: TOF |
|
V0778
|
Small Variation |
FOXH1 |
NM_003923.3:c.-88_-76delTCAGGTCCCGGCC |
isolated CHD: TOF |
|
V0779
|
Small Variation |
FOXH1 |
NM_003923.3:c.338G>C |
isolated CHD: TOF |
|
V0780
|
Small Variation |
GATA4 |
NM_001308093.1:c.699G>A |
isolated CHD: TOF |
|
V0781
|
Small Variation |
GATA4 |
NM_001308093.1:c.909+25G>A |
isolated CHD: TOF |
|
V0782
|
Small Variation |
GATA4 |
NM_001308093.1:c.1037C>T |
isolated CHD: TOF |
|
V0783
|
Small Variation |
SMYD1 |
NM_006062.3:c.*2435C>T |
isolated CHD: TOF |
|
V0784
|
Small Variation |
FOXA2 |
NM_153675.3:c.280G>C |
isolated CHD: TOF |
|
V0785
|
Small Variation |
HAND2 |
NM_021973.3:c.75_76insGCCGCC |
isolated CHD: TOF |
|
V0786
|
Small Variation |
GATA4 |
NM_001308093.1:c.1164G>A |
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 |
|
V0790
|
Small Variation |
ISL1 |
NM_002202.3:c.219-3C>T |
isolated CHD: TOF |
|
V0791
|
Small Variation |
ISL1 |
NM_002202.3:c.*245A>G |
isolated CHD: TOF |
|
V0792
|
Small Variation |
ISL1 |
NM_002202.3:c.*651A>G |
isolated CHD: TOF |
|
V0793
|
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*140T>C |
isolated CHD: TOF |
|
V0794
|
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*271C>T |
isolated CHD: TOF |
|
V0795
|
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*699C>T |
isolated CHD: TOF |
|
V0796
|
Small Variation |
BOP/SMYD5 |
NM_006062.3:c.*2435C>T |
isolated CHD: TOF |
|
V0797
|
Small Variation |
FOXA2 |
NM_153675.3:c.565A>T |
isolated CHD: TOF |
|
V0798
|
Small Variation |
TBX20 |
NM_001077653.2:c.81C>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 |
|
V0801
|
Small Variation |
TBX1 |
NM_005992.1:c.129_185del57 |
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 |
|
V0807
|
Small Variation |
FOXA2 |
NM_153675.3:c.471dupA |
isolated CHD: TOF |
|
V0808
|
Small Variation |
FOXC1 |
NM_001453.3:c.81_89delGCGGCGGCC |
isolated CHD: TOF |
|
V0809
|
Small Variation |
FOXC1 |
NM_001453.3:c.889C>T |
isolated CHD: TOF |
|
V0810
|
Small Variation |
FOXC1 |
NM_001453.3:c.1132_1140del |
isolated CHD: TOF |
|
V0811
|
Small Variation |
FOXC1 |
NM_001453.3:c.1462_1473del |
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 |
|
V0815
|
Small Variation |
NKX2-6 |
NM_001136271.2:c.529A>T |
non-isolated CHD: DORV, VSD |
|
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 |
|
V0818
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0819
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: VSD |
|
V0820
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: TOF |
|
V0821
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: other |
|
V0822
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD/VSD/ASD, VSD |
|
V0823
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
NA: Septa and valve abnormalities |
|
V0824
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V0825
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: VSD |
|
V0826
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
non-isolated CHD: ASD, VSD |
|
V0827
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
NA: Septa and valve abnormalities |
|
V0828
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0829
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: VSD |
|
V0830
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
non-isolated CHD: ASD, VSD |
|
V0831
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
NA: Septa and valve abnormalities |
|
V0832
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V0833
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: VSD |
|
V0834
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
non-isolated CHD: ASD, 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 |
|
V0846
|
Small Variation |
AXIN1 |
NM_003502.4:c.2522G>A |
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 |
|
V0849
|
Small Variation |
PTCH2 |
NM_003738.5:c.3139C>T |
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 |
|
V0858
|
Small Variation |
WNT4 |
NM_030761.5:c.129C>A |
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 |
|
V0866
|
Small Variation |
Increased homozygosity |
NA |
isolated CHD: HLHS |
|
V0867
|
Small Variation |
Increased homozygosity |
NA |
non-isolated CHD: PA, VSD |
|
V0868
|
Small Variation |
Increased homozygosity |
NA |
isolated CHD: EA |
|
V0869
|
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
NA: Septa and valve abnormalities |
|
V0870
|
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
isolated CHD: ASD |
|
V0871
|
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
NA: Septa and valve abnormalities |
|
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 |
|
V0874
|
Small Variation |
DARS |
NC_000002.12:g.135956608A>G |
NA: Septa and valve abnormalities |
|
V0875
|
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
non-isolated CHD: ASD, VSD |
|
V0876
|
Small Variation |
DARS |
NC_000002.12:g.135957754T>C |
NA: Septa and valve abnormalities |
|
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 |
|
V0879
|
Small Variation |
RARS |
NM_002887.4:c.45+55C>T |
NA: Septa and valve abnormalities |
|
V0880
|
Small Variation |
RARS |
NM_002887.4:c.*66C>A |
NA: Septa and valve abnormalities |
|
V0881
|
Small Variation |
IARS |
NM_002161.5:c.*173A>T |
NA: Septa and valve abnormalities |
|
V0882
|
Small Variation |
IARS |
NM_002161.5:c.3544A>G |
NA: Septa and valve abnormalities |
|
V0883
|
Small Variation |
IARS |
NC_000009.12:g.92293147A>T |
NA: Septa and valve abnormalities |
|
V0884
|
Small Variation |
MARS |
NM_004990.4:c.109+112A>G |
NA: Septa and valve abnormalities |
|
V0885
|
Small Variation |
KARS |
NM_005548.2:c.63-1406T>C |
NA: Septa and valve abnormalities |
|
V0886
|
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: ASD |
|
V0887
|
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: VSD |
|
V0888
|
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
non-isolated CHD: ASD, VSD |
|
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 |
|
V0895
|
Small Variation |
VEGFA |
NM_003376.6:c.-634G>C |
isolated CHD: AVSD |
|
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 |
|
V0904
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: ASD |
|
V0905
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
V0906
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: ASD |
|
V0907
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: VSD |
|
V0908
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
V0909
|
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
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 |
|
V0913
|
Small Variation |
ELN |
NM_000501.4:c.950-3C>G |
isolated CHD: SVAS |
|
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 |
|
V0918
|
Small Variation |
GATA5 |
NC_000020.10:g.61051463delC |
isolated CHD: VSD |
|
V0919
|
Small Variation |
GATA5 |
NC_000020.10:g.62476109A>G |
isolated CHD: VSD |
|
V0920
|
Small Variation |
GATA5 |
NC_000020.10:g.61051379_61051380delGGinsAA |
isolated CHD: VSD |
|
V0921
|
Small Variation |
GATA5 |
NC_000020.10:g.61051373G>A |
isolated CHD: VSD |
|
V0922
|
Small Variation |
GATA5 |
NC_000020.11:g.61051363G>C |
isolated CHD: VSD |
|
V0923
|
Small Variation |
GATA5 |
NC_000020.10:g.61051327A>C |
isolated CHD: VSD |
|
V0924
|
Small Variation |
GATA5 |
NC_000020.10:g.62476223G>A |
isolated CHD: VSD |
|
V0925
|
Small Variation |
GATA5 |
NC_000020.10:g.61051279C>T |
isolated CHD: VSD |
|
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 |
|
V0928
|
Small Variation |
NRP1 |
NM_003873.6:c.248+2T>G |
isolated CHD: TA |
|
V0929
|
Small Variation |
PRKD1 |
NM_002742.3:c.1852C>T |
isolated CHD: TA |
|
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 |
|
V0932
|
Small Variation |
NKX2-5 |
NM_004387.4:c.(616delG) |
isolated CHD: ASD |
|
V0933
|
Small Variation |
NKX2-5 |
NM_004387.4:c.(723_730delTGCGGCAT) |
isolated CHD: ASD |
|
V0934
|
Small Variation |
NKX2-5 |
NM_004387.4:c.(73C>T) |
isolated CHD: ASD |
|
V0935
|
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
non-isolated CHD: VSD, PDA |
|
V0936
|
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
isolated CHD: valvulo septal defects |
|
V0937
|
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
non-isolated CHD: DORV, VSD |
|
V0938
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615054G>A |
isolated CHD : ASD/VSD/TOF/PDA/CoA/other |
|
V0939
|
Small Variation |
KCNQ1 |
NM_000218.3:N/A |
isolated CHD: LQT1 |
|
V0940
|
Small Variation |
KCNH2 |
NM_000238.4:N/A |
isolated CHD: LQT2 |
|
V0941
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V0942
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0943
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V0944
|
Small Variation |
VEGFA |
NC_000006.12:g.43768652A>C |
isolated CHD: TOF |
|
V0945
|
Small Variation |
VEGFA |
NC_000006.12:g.43769749C>T |
isolated CHD: TOF |
|
V0946
|
Small Variation |
VEGFA |
NC_000006.12:g.43770093A>G |
isolated CHD: TOF |
|
V0947
|
Small Variation |
VEGFA |
NC_000006.12:g.43770613C>G |
isolated CHD: TOF |
|
V0948
|
Small Variation |
VEGFA |
NM_003376.6:c.534C>T |
isolated CHD: TOF |
|
V0949
|
Small Variation |
VEGFA |
NC_000006.12:g.43774790G>A |
isolated CHD: TOF |
|
V0950
|
Small Variation |
VEGFA |
NC_000006.12:g.43784799C>T |
isolated CHD: TOF |
|
V0951
|
Small Variation |
VEGFA |
NC_000006.12:g.43785314C>T |
isolated CHD: TOF |
|
V0952
|
Small Variation |
VEGFA |
NC_000006.12:g.43785475A>G |
isolated CHD: TOF |
|
V0953
|
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: ASD |
|
V0954
|
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: VSD |
|
V0955
|
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: TOF |
|
V0956
|
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: SV |
|
V0957
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: ASD |
|
V0958
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: VSD |
|
V0959
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: TOF |
|
V0960
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: SV |
|
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 |
|
V0965
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: ASD |
|
V0966
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: VSD |
|
V0967
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: TOF |
|
V0968
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: SV |
|
V0969
|
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: ASD |
|
V0970
|
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: VSD |
|
V0971
|
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: TOF |
|
V0972
|
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: SV |
|
V0973
|
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: ASD |
|
V0974
|
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: VSD |
|
V0975
|
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: TOF |
|
V0976
|
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: SV |
|
V0977
|
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: ASD |
|
V0978
|
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: VSD |
|
V0979
|
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: TOF |
|
V0980
|
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: SV |
|
V0981
|
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: ASD |
|
V0982
|
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: VSD |
|
V0983
|
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: TOF |
|
V0984
|
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: SV |
|
V0985
|
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: ASD |
|
V0986
|
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: VSD |
|
V0987
|
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: TOF |
|
V0988
|
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: SV |
|
V0989
|
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: ASD |
|
V0990
|
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: VSD |
|
V0991
|
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: TOF |
|
V0992
|
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: SV |
|
V0993
|
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: ASD |
|
V0994
|
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: VSD |
|
V0995
|
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: TOF |
|
V0996
|
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: SV |
|
V0997
|
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: ASD |
|
V0998
|
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: VSD |
|
V0999
|
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: TOF |
|
V1000
|
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: SV |
|
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 |
|
V1009
|
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: ASD |
|
V1010
|
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: VSD |
|
V1011
|
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: TOF |
|
V1012
|
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: SV |
|
V1013
|
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: ASD |
|
V1014
|
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: VSD |
|
V1015
|
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: TOF |
|
V1016
|
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: SV |
|
V1017
|
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: ASD |
|
V1018
|
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: VSD |
|
V1019
|
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: TOF |
|
V1020
|
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: SV |
|
V1021
|
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: ASD |
|
V1022
|
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: VSD |
|
V1023
|
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: TOF |
|
V1024
|
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: SV |
|
V1025
|
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: ASD |
|
V1026
|
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: VSD |
|
V1027
|
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: TOF |
|
V1028
|
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
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 |
|
V1031
|
Small Variation |
ACE |
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
V1032
|
Small Variation |
ACE |
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
V1033
|
Small Variation |
ACE |
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
V1034
|
Small Variation |
ACE |
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
V1035
|
Small Variation |
ACE |
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
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, HLV/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, HLV/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 |
|
V1044
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
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 |
|
V1048
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1049
|
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1050
|
Small Variation |
NKX2-5 |
NM_004387.4:c.1500G>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 |
|
V1067
|
Small Variation |
CFC1 |
NM_032545.3:c.461C>T |
isolated CHD: TGA |
|
V1068
|
Small Variation |
CFC1 |
NM_032545.3:c.563_574delACCGCCTCCTGC |
isolated CHD: DORV |
|
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 |
|
V1071
|
Small Variation |
GATA4 |
NM_001308093.1:N/A |
isolated CHD: TOF |
|
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, HLV/CoA, VSD |
|
V1078
|
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD/non-isolated CHD: DORV, HLV/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 |
|
V1081
|
Small Variation |
CFC1 |
NM_032545.3:c.461C>T |
isolated CHD: TGA |
|
V1082
|
Small Variation |
CFC1 |
NM_032545.3:c.563_574delACCGCCTCCTGC |
isolated CHD: DORV |
|
V1083
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: NA |
|
V1084
|
Small Variation |
POU5F1 |
NC_000006.12:additive |
isolated CHD: NA |
|
V1085
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164060A>T |
isolated CHD: NA |
|
V1086
|
Small Variation |
POU5F1 |
NC_000006.12:additive |
isolated CHD: NA |
|
V1087
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: NA |
|
V1088
|
Small Variation |
POU5F1 |
NC_000006.12:additive |
isolated CHD: NA |
|
V1089
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164060A>T |
isolated CHD: NA |
|
V1090
|
Small Variation |
POU5F1 |
NC_000006.12:additive |
isolated CHD: NA |
|
V1091
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: NA |
|
V1092
|
Small Variation |
POU5F1 |
NC_000006.12:additive |
isolated CHD: NA |
|
V1093
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: ASD |
|
V1094
|
Small Variation |
POU5F1 |
NC_000006.12:N/A |
isolated CHD: ASD |
|
V1095
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: VSD |
|
V1096
|
Small Variation |
POU5F1 |
NC_000006.12:N/A |
isolated CHD: VSD |
|
V1097
|
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: ASD/VSD |
|
V1098
|
Small Variation |
POU5F1 |
NC_000006.12:N/A |
isolated CHD: ASD/VSD |
|
V1099
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615146G>A |
isolated CHD: NA |
|
V1100
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615168G>A |
isolated CHD: NA |
|
V1101
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: ASD |
|
V1102
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1103
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
V1104
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PS |
|
V1105
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: NA |
|
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 |
|
V1108
|
Small Variation |
NKX2-5 |
NM_004387.4:c.112delG |
non-isolated CHD: AS, PVS |
|
V1109
|
Small Variation |
NKX2-5 |
NM_004387.4:c.112delG |
isolated CHD: ASD |
|
V1110
|
Small Variation |
NKX2-5 |
NM_004387.4:c.112delG |
non-isolated CHD: AS, PVS |
|
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 |
|
V1113
|
Small Variation |
MESP1 |
NM_018670.3:c.79_87dup9 |
isolated CHD: cVSD |
|
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 |
|
V1117
|
Small Variation |
MESP1 |
NM_018670.3:c.436_437delAG |
isolated CHD: cVSD |
|
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 |
|
V1123
|
Small Variation |
NPPB |
NC_000001.11:g.11857283C>T |
NA: NA |
|
V1124
|
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: NA |
|
V1125
|
Small Variation |
NOTCH1 |
NM_017617.5:c.3511-2A>G |
non-isolated CHD: AVS, AVR, PVS |
|
V1126
|
Small Variation |
NOTCH1 |
NM_017617.5:c.3511-2A>G |
non-isolated CHD: BAV, AVS |
|
V1127
|
Small Variation |
NOTCH1 |
NM_017617.5:c.3511-2A>G |
isolated CHD: BAV |
|
V1128
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
non-isolated CHD: BAV, TAA |
|
V1129
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
non-isolated CHD: BAV, AVS |
|
V1130
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
non-isolated CHD: AVS, asymm TAV |
|
V1131
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
isolated CHD: BAV |
|
V1132
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
isolated CHD: BAV |
|
V1133
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
non-isolated CHD: PA, rDA, VSD |
|
V1134
|
Small Variation |
NOTCH1 |
NM_017617.5:c.865+2C>A |
isolated CHD: asymm TAV |
|
V1135
|
Small Variation |
NOTCH1 |
NM_017617.5:c.5950C>T |
non-isolated CHD: AVS, TAA |
|
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 |
|
V1139
|
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
isolated CHD: AS |
|
V1140
|
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
isolated CHD: AVI |
|
V1141
|
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
non-isolated CHD: CoA, BAV, AVS, MVS, MI |
|
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 |
|
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 |
|
V1148
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2425delG |
non-isolated CHD: BAV, AVS, MVS |
|
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 |
|
V1151
|
Small Variation |
NOTCH1 |
NM_017617.5:N/A(del 9q34.3) |
isolated CHD: HLHS |
|
V1152
|
Small Variation |
NOTCH1 |
NM_017617.5:c.3054C>A |
isolated CHD: HLHS |
|
V1153
|
Small Variation |
NOTCH1 |
NM_017617.5:c.1650C>G |
NA: Normal echo |
|
V1154
|
Small Variation |
NOTCH1 |
NM_017617.5:c.1650C>G |
non-isolated CHD: BAV, AS, AVI |
|
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 |
|
V1157
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD/non-isolated CHD: NA |
|
V1158
|
Small Variation |
NKX2-5 |
NM_004387.4:c.1433A>G |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1162
|
Small Variation |
MYH7B |
NM_020884.5:c.-96+1618T>G |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1163
|
Small Variation |
MYH7B |
NM_020884.5:c.-95-031G>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1164
|
Small Variation |
MYH7B |
NM_020884.5:c.218-71T>G |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1165
|
Small Variation |
MYH7B |
NM_020884.5:c.2103+138A>G |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1166
|
Small Variation |
TRPC4AP |
NM_015638.3:c.1218+1442G>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1167
|
Small Variation |
TRPC4AP |
NM_015638.3:c.866-590G>T |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1168
|
Small Variation |
TRPC4AP |
NM_015638.3:c.658-1243G>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1169
|
Small Variation |
TRPC4AP |
NM_015638.3:c.168+4368A>T |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1170
|
Small Variation |
EDEM2 |
NM_018217.3:c.1366G>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1171
|
Small Variation |
EDEM2 |
NM_018217.3:c.259-106G>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1172
|
Small Variation |
EDEM2 |
NM_018217.3:c.-1753C>A |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1173
|
Small Variation |
MMP24-AS1-EDEM2 |
NC_000020.11:g.35156331C>T |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1174
|
Small Variation |
MMP24-AS1-EDEM2 |
NC_000020.11:g.35157873C>T |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1175
|
Small Variation |
MMP24-AS1-EDEM2 |
NC_000020.11:g.35165459T>C |
isolated CHD: AS/CoA/BAV/VSD/IAA/HLHS |
|
V1176
|
Small Variation |
MMP24-AS1-EDEM2 |
NC_000020.11:g.35193167T>C |
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 |
|
V1184
|
Small Variation |
BMPR2 |
NM_001204.7:c.-33A>G |
isolated CHD/non-isolated CHD: PVD |
|
V1185
|
Small Variation |
BMPR2 |
NM_001204.7:c.529+13A>C |
isolated CHD/non-isolated CHD: NA |
|
V1186
|
Small Variation |
BMPR2 |
NM_001204.7:c.536G>A |
isolated CHD/non-isolated CHD: PVD |
|
V1187
|
Small Variation |
BMPR2 |
NM_001204.7:c.711G>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 |
|
V1190
|
Small Variation |
BMPR2 |
NM_001204.7:c.-212_-211insC |
isolated CHD/non-isolated CHD: PVD |
|
V1191
|
Small Variation |
BMPR2 |
NM_001204.7:c.1042G>A |
isolated CHD/non-isolated CHD: PVD |
|
V1192
|
Small Variation |
BMPR2 |
NM_001204.7:c.1196C>G |
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 |
|
V1195
|
Small Variation |
BMPR2 |
NM_001204.7:c.-310A>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 |
|
V1198
|
Small Variation |
BMPR2 |
NM_001204.7:c.180_182del |
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 |
|
V1212
|
Small Variation |
GATA4 |
NC_000008.11:g.11759633C>T |
isolated CHD/non-isolated CHD: NA |
|
V1213
|
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD/non-isolated CHD: NA |
|
V1214
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: TOF |
|
V1215
|
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
isolated CHD: TOF |
|
V1216
|
Small Variation |
ACTC1 |
NM_005159.5:c.1784T>C |
isolated CHD: ASDII |
|
V1217
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD/VSD/PDA/PS/TOF/AS |
|
V1218
|
Small Variation |
NKX2-5 |
NM_004387.4:c.403delA |
isolated CHD: ASD/VSD/PDA/PS/TOF/AS |
|
V1219
|
Small Variation |
NKX2-5 |
NM_004387.4:c.738T>A |
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 |
|
V1221
|
Small Variation |
RNF41 |
NM_005785.4:c.206T>A |
NA: NA |
|
V1222
|
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
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 |
|
V1230
|
Small Variation |
NFATC1 |
NC_000018.10:g.79531418G>A |
isolated CHD/non-isolated CHD: NA |
|
V1231
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30060575G>A |
isolated CHD/non-isolated CHD: NA |
|
V1232
|
Small Variation |
NFATC1 |
NM_006162.5:c.786T>G |
isolated CHD/non-isolated CHD: NA |
|
V1233
|
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD/non-isolated CHD: NA |
|
V1234
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30044563G>A |
isolated CHD/non-isolated CHD: NA |
|
V1235
|
Small Variation |
NFATC1 |
NC_000018.10:g.79528806T>C |
isolated CHD/non-isolated CHD: NA |
|
V1236
|
Small Variation |
NFATC1 |
NC_000018.10:g.79395184G>A |
isolated CHD/non-isolated CHD: NA |
|
V1237
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30037466A>G |
isolated CHD/non-isolated CHD: NA |
|
V1238
|
Small Variation |
KDR |
NC_000004.12:g.55131173A>G |
isolated CHD/non-isolated CHD: NA |
|
V1239
|
Small Variation |
KDR |
NM_002253.3:c.1416A>T |
isolated CHD/non-isolated CHD: NA |
|
V1240
|
Small Variation |
KDR |
NC_000004.12:g.55126199A>G |
isolated CHD/non-isolated CHD: NA |
|
V1241
|
Small Variation |
KDR |
NM_002253.3:c.889G>A |
isolated CHD/non-isolated CHD: NA |
|
V1242
|
Small Variation |
KDR |
NC_000004.12:g.55125858G>A |
isolated CHD/non-isolated CHD: NA |
|
V1243
|
Small Variation |
KDR |
NC_000004.12:g.55125900A>G |
isolated CHD/non-isolated CHD: NA |
|
V1244
|
Small Variation |
KDR |
NC_000004.12:g.55127139G>A |
isolated CHD/non-isolated CHD: NA |
|
V1245
|
Small Variation |
VEGFA |
NC_000006.12:g.43768652A>C |
isolated CHD/non-isolated CHD: NA |
|
V1246
|
Small Variation |
VEGFA |
NC_000006.12:g.43769749C>T |
isolated CHD/non-isolated CHD: NA |
|
V1247
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42541997C>T |
isolated CHD/non-isolated CHD: NA |
|
V1248
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42607866G>T |
isolated CHD/non-isolated CHD: NA |
|
V1249
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42560995A>G |
isolated CHD/non-isolated CHD: NA |
|
V1250
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42560738C>T |
isolated CHD/non-isolated CHD: NA |
|
V1251
|
Small Variation |
FGFR1 |
NC_000008.11:g.38411996T>C |
isolated CHD/non-isolated CHD: NA |
|
V1252
|
Small Variation |
FGFR1 |
NC_000008.11:g.38470290_38470291delCA |
isolated CHD/non-isolated CHD: NA |
|
V1253
|
Small Variation |
FGFR1 |
NC_000008.11:g.38469497C>T |
isolated CHD/non-isolated CHD: NA |
|
V1254
|
Small Variation |
FGFR1 |
NC_000008.11:g.38469769A>G |
isolated CHD/non-isolated CHD: NA |
|
V1255
|
Small Variation |
FGFR1 |
NC_000008.11:g.38468886T>C |
isolated CHD/non-isolated CHD: NA |
|
V1256
|
Small Variation |
BCL-6 |
NM_001706.5:c.1161C>T |
isolated CHD/non-isolated CHD: NA |
|
V1257
|
Small Variation |
BCL-6 |
NM_001706.5:c.1477G>A |
isolated CHD/non-isolated CHD: NA |
|
V1258
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30064718A>G |
isolated CHD/non-isolated CHD: NA |
|
V1259
|
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1260
|
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1261
|
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
isolated CHD: SD |
|
V1262
|
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: NA |
|
V1263
|
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
isolated CHD: SD |
|
V1264
|
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: NA |
|
V1265
|
Small Variation |
GART |
NM_032195.2:c.77+1138T>C |
NA: Normal echo |
|
V1266
|
Small Variation |
GART |
NM_000819.5:c.1298+114G>C |
NA: Normal echo |
|
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 |
|
V1269
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: ASD |
|
V1270
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: ASD |
|
V1271
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: ASD |
|
V1272
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: VSD |
|
V1273
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: VSD |
|
V1274
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: VSD |
|
V1275
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: PDA |
|
V1276
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: PDA |
|
V1277
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: PDA |
|
V1278
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: NA |
|
V1279
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: NA |
|
V1280
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: NA |
|
V1281
|
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: NA |
|
V1282
|
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: ASD |
|
V1283
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1284
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: VSD |
|
V1285
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1286
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: NA |
|
V1287
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: VSD |
|
V1288
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
V1289
|
Small Variation |
HAND1 |
NM_004821.3:c.352C>T |
isolated CHD: TOF |
|
V1290
|
Small Variation |
CNOT1 |
NM_016284.5:c.4629delT |
isolated CHD: PFO |
|
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 |
|
V1296
|
Small Variation |
CNOT1 |
NM_016284.5:c.4629delT |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1351
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: TOF |
|
V1352
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: DORV |
|
V1353
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
non-isolated CHD: PA, IVS |
|
V1354
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: PTA |
|
V1355
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
non-isolated CHD: PA, VSD |
|
V1356
|
Small Variation |
GATA4 |
NM_001308093.1:c.997+56C>A |
isolated CHD: TGA |
|
V1357
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: TOF |
|
V1358
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: DORV |
|
V1359
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
non-isolated CHD: SA, SV |
|
V1360
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: PTA |
|
V1361
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
non-isolated CHD: PA, VSD |
|
V1362
|
Small Variation |
GATA4 |
NM_001308093.1:c.910-58T>A |
isolated CHD: TGA |
|
V1363
|
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>C |
isolated CHD: TOF |
|
V1364
|
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>C |
non-isolated CHD: PA, VSD |
|
V1365
|
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
isolated CHD: TOF |
|
V1366
|
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
non-isolated CHD: SA, SV |
|
V1367
|
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
non-isolated CHD: PA, VSD |
|
V1368
|
Small Variation |
GATA4 |
NM_001308093.1:c.1146+23_1146+24insA |
isolated CHD: TGA |
|
V1369
|
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
isolated CHD: TOF |
|
V1370
|
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
isolated CHD: DORV |
|
V1371
|
Small Variation |
GATA4 |
NC_000008.11:g.11750095G>A |
non-isolated CHD: PA, VSD |
|
V1372
|
Small Variation |
GATA4 |
NM_001308093.1:c.1146+6C>T |
isolated CHD: DORV |
|
V1373
|
Small Variation |
IRX1 |
NM_024337.4:c.718C>G |
non-isolated CHD: TGA, ASD |
|
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 |
|
V1378
|
Small Variation |
TBX2 |
NM_005994.4:c.2139dupG |
non-isolated CHD: TOF, AVSD |
|
V1379
|
Small Variation |
TBX5 |
NM_000192.3:c.409G>T |
non-isolated CHD: TOF, PDA, PFO |
|
V1380
|
Small Variation |
CITED2 |
NM_001168388.2:c.1A>T |
non-isolated CHD: TOF, PAA |
|
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 |
|
V1392
|
Small Variation |
MKRN2 |
NC_000007.14:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1393
|
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1394
|
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1395
|
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1396
|
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1397
|
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1398
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1399
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1400
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1401
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1402
|
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1403
|
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1404
|
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1405
|
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1406
|
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1407
|
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1408
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1409
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1410
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1411
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1412
|
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1413
|
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1414
|
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1415
|
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1416
|
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1417
|
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1418
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1419
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1420
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1421
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
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, HRV, Long ST/LQT1 |
|
V1424
|
Small Variation |
KCNH2 |
NM_000238.4:c.(3106_3126del) |
isolated CHD: TGA |
|
V1425
|
Small Variation |
KCNQ1 |
NM_000218.3:c.(569G>A) |
non-isolated CHD: TA, VSD, NRGV |
|
V1426
|
Small Variation |
KCNQ1 |
NM_000218.3:N/A |
non-isolated CHD: VSD, EA, BAV |
|
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: HAA, Fenestrated ASDs |
|
V1429
|
Small Variation |
KCNH2 |
NM_000238.4:c.(2536C>T) |
isolated CHD: Pm VSD |
|
V1430
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
V1431
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: Normal echo |
|
V1432
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: Septa and valve abnormalities |
|
V1433
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: ASD |
|
V1434
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: VSD |
|
V1435
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: TOF |
|
V1436
|
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
non-isolated CHD: TOF, ASD |
|
V1437
|
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
isolated CHD: TOF |
|
V1438
|
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
non-isolated CHD: PTA, VSD |
|
V1439
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD/ASD/PDA/PS/AS |
|
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 |
|
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 |
|
V1453
|
Small Variation |
KMT2D |
NM_003482.3:c.10836G>A |
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 |
|
V1457
|
Small Variation |
KMT2D |
NM_003482.3:c.2438C>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 |
|
V1462
|
Small Variation |
BMP2 |
NM_001200.4:c.570A>T |
isolated CHD: HLHS |
|
V1463
|
Small Variation |
NOTCH1 |
NM_017617.5:c.4662C>A |
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 |
|
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 |
|
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 |
|
V1477
|
Small Variation |
HUWE1 |
NC_000023.11:g.53614786T>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 |
|
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 |
|
V1483
|
Small Variation |
NKX2-5 |
NM_004387.4:c.618C>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 |
|
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 |
|
V1489
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
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 |
|
V1493
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1494
|
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1495
|
Small Variation |
NKX2-5 |
NM_004387.4:c.[63A>G;606G>C;*61G>T;705G>C] |
isolated CHD: ASD |
|
V1496
|
Small Variation |
VEGFA |
NC_000006.12:g.[43768652A>C;43769749C>T;43770093A>G] |
isolated CHD: TOF |
|
V1497
|
Small Variation |
VEGFA |
NC_000006.12:g.[43770613C>G;43771240C>T;43774790G>A] |
isolated CHD: TOF |
|
V1498
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615054G>A |
isolated CHD : ASD/VSD/TOF/PDA/CoA/other |
|
V1499
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615146G>A |
isolated CHD : ASD/VSD/TOF/PDA/CoA/other |
|
V1500
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615168G>A |
isolated CHD : ASD/VSD/TOF/PDA/CoA/other |
|
V1501
|
Small Variation |
EPRS |
NM_004446.3:c.[*125G>A;3405G>A;3102G>A;924C>A] |
NA: Septa and valve abnormalities |
|
V1502
|
Small Variation |
EPRS |
NM_004446.3:others(N/A) |
NA: Septa and valve abnormalities |
|
V1503
|
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
NA: NA |
|
V1504
|
Small Variation |
NOS3 |
NM_000603.5:c.-51-762C>T |
NA: NA |
|
V1505
|
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
NA: NA |
|
V1506
|
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
NA: NA |
|
V1507
|
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
isolated CHD: VSD |
|
V1508
|
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
isolated CHD: ASD |
|
V1509
|
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
NA: NA |
|
V1510
|
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
isolated CHD: VSD |
|
V1511
|
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
isolated CHD: ASD |
|
V1512
|
Small Variation |
ISL1 |
NC_000005.10:g.[51405268C>T;51363954G>A;51370784A>G] |
NA: NA |
|
V1513
|
Small Variation |
ISL1 |
NC_000005.10:g.51356860T>C |
non-isolated CHD: NA |
|
V1514
|
Small Variation |
ISL1 |
NC_000005.10:g.51356860T>C |
isolated CHD: VSD |
|
V1515
|
Small Variation |
ISL1 |
NC_000005.10:g.51356860T>C |
isolated CHD: ASD |
|
V1516
|
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
NA: NA |
|
V1517
|
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
isolated CHD: VSD |
|
V1518
|
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
isolated CHD: ASD |
|
V1519
|
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
NA: NA |
|
V1520
|
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: VSD |
|
V1521
|
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: ASD |
|
V1522
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
NA: NA |
|
V1523
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V1524
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V1525
|
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
NA: NA |
|
V1526
|
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
isolated CHD: VSD |
|
V1527
|
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
isolated CHD: ASD |
|
V1528
|
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
NA: NA |
|
V1529
|
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
isolated CHD: VSD |
|
V1530
|
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
isolated CHD: ASD |
|
V1531
|
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
NA: NA |
|
V1532
|
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
isolated CHD: VSD |
|
V1533
|
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
isolated CHD: ASD |
|
V1534
|
Small Variation |
CUBN |
NC_000010.11:g.17088694A>G |
NA: NA |
|
V1535
|
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V1536
|
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V1537
|
Small Variation |
SMAD7 |
NM_005904.3:c.[894C>T;1206C>G] |
isolated CHD: NA |
|
V1538
|
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V1539
|
Small Variation |
MTR |
NM_000254.2:c.*905G>A |
NA: NA |
|
V1540
|
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V1541
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V1542
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V1543
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1544
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V1545
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1546
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD/non-isolated CHD: CTDs |
|
V1547
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V1548
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: CTDs |
|
V1549
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1550
|
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD/non-isolated CHD: NA |
|
V1551
|
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1552
|
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD/non-isolated CHD: NA |
|
V1553
|
Small Variation |
GDF1 |
NG_012070.1:g.[27111C>T;23288A>G;22634A>G;22095C>T] |
isolated CHD/non-isolated CHD: NA |
|
V1554
|
Small Variation |
PTPN11 |
NC_000012.12:g.112468611A>G |
isolated CHD: TOF |
|
V1555
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V1556
|
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: ASD |
|
V1557
|
Small Variation |
RTN4 |
AY102279.1:g.4548_4554insCAA |
isolated CHD: ASD |
|
V1558
|
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD/non-isolated CHD: CTDs/SD/LVOTO/RVOTO/APVR/complex CHD/other |
|
V1559
|
Small Variation |
TFAP2B |
NM_003221.4:c.1-34G>A |
isolated CHD: PDA |
|
V1560
|
Small Variation |
TFAP2B |
NM_003221.4:c.539+62G>C |
isolated CHD: PDA |
|
V1561
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: Pm VSD |
|
V1562
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: PS |
|
V1563
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: CAVC |
|
V1564
|
Small Variation |
NFATC1 |
NM_006162.5:c.1920+56_1920+99dup |
isolated CHD: valvulo septal defects |
|
V1565
|
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD: valvulo septal defects |
|
V1566
|
Small Variation |
ISL1 |
NM_002202.3:c.[-492A>G;28+17C>T;c.*651A>T] |
NA: NA |
|
V1567
|
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
NA: NA |
|
V1568
|
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
NA: NA |
|
V1569
|
Small Variation |
MIR149 |
NR_029702.1:n.86T>C |
NA: NA |
|
V1570
|
Small Variation |
MIR499A |
NR_030223.1:n.73A>G |
NA: NA |
|
V1571
|
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
V1572
|
Small Variation |
MIR499A |
NR_030223.1:c.73A>G |
NA: NA |
|
V1573
|
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>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 |
|
V1576
|
Small Variation |
TBX5 |
NM_000192.3:GTGCGGTCCACGCTAAGGTGCGACGAA |
isolated CHD: VSD |
|
V1577
|
Small Variation |
TBX5 |
NM_000192.3:AACAGGGTTGCTCGC |
isolated CHD: VSD |
|
V1578
|
Small Variation |
TBX5 |
NM_000192.3:GC |
isolated CHD: VSD |
|
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 |
|
V1585
|
Small Variation |
MS |
NA |
isolated CHD/non-isolated CHD: NA |
|
V1586
|
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: NA |
|
V1587
|
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: ASD |
|
V1588
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1589
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: VSD |
|
V1590
|
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1591
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: NA |
|
V1592
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: VSD |
|
V1593
|
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
V1594
|
Small Variation |
NFATC1 |
NC_000018.10:g.79531418G>A |
isolated CHD/non-isolated CHD: NA |
|
V1595
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30060575G>A |
isolated CHD/non-isolated CHD: NA |
|
V1596
|
Small Variation |
NFATC1 |
NM_006162.5:c.786T>G |
isolated CHD/non-isolated CHD: NA |
|
V1597
|
Small Variation |
NFATC1 |
NM_006162.5:c.2251T>G |
isolated CHD/non-isolated CHD: NA |
|
V1598
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30044563G>A |
isolated CHD/non-isolated CHD: NA |
|
V1599
|
Small Variation |
NFATC1 |
NC_000018.10:g.79528806T>C |
isolated CHD/non-isolated CHD: NA |
|
V1600
|
Small Variation |
NFATC1 |
NC_000018.10:g.79395184G>A |
isolated CHD/non-isolated CHD: NA |
|
V1601
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30037466A>G |
isolated CHD/non-isolated CHD: NA |
|
V1602
|
Small Variation |
KDR |
NC_000004.12:g.55131173A>G |
isolated CHD/non-isolated CHD: NA |
|
V1603
|
Small Variation |
KDR |
NM_002253.3:c.1416A>T |
isolated CHD/non-isolated CHD: NA |
|
V1604
|
Small Variation |
KDR |
NC_000004.12:g.55126199A>G |
isolated CHD/non-isolated CHD: NA |
|
V1605
|
Small Variation |
KDR |
NM_002253.3:c.889G>A |
isolated CHD/non-isolated CHD: NA |
|
V1606
|
Small Variation |
KDR |
NC_000004.12:g.55125858G>A |
isolated CHD/non-isolated CHD: NA |
|
V1607
|
Small Variation |
KDR |
NC_000004.12:g.55125900A>G |
isolated CHD/non-isolated CHD: NA |
|
V1608
|
Small Variation |
VEGFA |
NC_000006.12:g.43768652A>C |
isolated CHD/non-isolated CHD: NA |
|
V1609
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42541997C>T |
isolated CHD/non-isolated CHD: NA |
|
V1610
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42607866G>T |
isolated CHD/non-isolated CHD: NA |
|
V1611
|
Small Variation |
TNFSF11 |
NC_000013.11:g.42560995A>G |
isolated CHD/non-isolated CHD: NA |
|
V1612
|
Small Variation |
FGFR1 |
NC_000008.11:g.38411996T>C |
isolated CHD/non-isolated CHD: NA |
|
V1613
|
Small Variation |
FGFR1 |
NC_000008.11:g.38470290_38470291delCA |
isolated CHD/non-isolated CHD: NA |
|
V1614
|
Small Variation |
FGFR1 |
NC_000008.11:g.38469497C>T |
isolated CHD/non-isolated CHD: NA |
|
V1615
|
Small Variation |
FGFR1 |
NC_000008.11:g.38469769A>G |
isolated CHD/non-isolated CHD: NA |
|
V1616
|
Small Variation |
FGFR1 |
NC_000008.11:g.38468886T>C |
isolated CHD/non-isolated CHD: NA |
|
V1617
|
Small Variation |
BCL-6 |
NM_001706.5:c.1161C>T |
isolated CHD/non-isolated CHD: NA |
|
V1618
|
Small Variation |
BCL-6 |
NM_001706.5:c.1477G>A |
isolated CHD/non-isolated CHD: NA |
|
V1619
|
Small Variation |
ZNRD1 |
NC_000006.12:g.30064718A>G |
isolated CHD/non-isolated CHD: NA |
|
V1620
|
Small Variation |
BMP2 |
NM_001200.4:c.261A>G |
NA: 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 |
|
V1624
|
Small Variation |
GATA4 |
NM_002052.5:c.[*1158C>T;*1256A>T;*1355G>A;*1521C>G] |
isolated CHD/non-isolated CHD: 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 |
|
V1627
|
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD/non-isolated CHD: NA |
|
V1628
|
Small Variation |
NKX2-5 |
NM_004387.4:c.1433A>G |
isolated CHD/non-isolated CHD: NA |
|
V1629
|
Small Variation |
NKX2-5 |
NM_004387.4:c.[63A>G;606G>C;*61G>T;1433A>G] |
isolated CHD/non-isolated CHD: NA |
|
V1630
|
Small Variation |
NPPB |
NC_000001.11:g.11857283C>T |
NA: NA |
|
V1631
|
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: NA |
|
V1632
|
Small Variation |
ACE |
NM_000789.4:D |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/CoA/TAA/PS/AS |
|
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 |
|
V1636
|
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: VSD |
|
V1637
|
Small Variation |
RTN4 |
AY102279.1:g.4548_
4554insCAA |
isolated CHD: VSD |
|
V1638
|
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: HLHS/TOF/DORV/TGV/EA/VSD/PS/CoA/ASD |
|
V1639
|
Small Variation |
HOXC4 |
NC_000012.12:g.54024359A>C |
isolated CHD: NA |
|
V1640
|
Small Variation |
HOXC4 |
NC_000012.12:g.54034748C>T |
isolated CHD: NA |
|
V1641
|
Small Variation |
HOXC4 |
NC_000012.12:g.54053018G>A |
isolated CHD: NA |
|
V1642
|
Small Variation |
HOXC4 |
NC_000012.12:g.[54024359A>C;54034748C>T;54053018G>A] |
isolated CHD: NA |
|
V1643
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615146G>A |
isolated CHD: NA |
|
V1644
|
Small Variation |
RCAN1 |
NC_000021.9:g.34615168G>A |
isolated CHD: NA |
|
V1645
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: TOF |
|
V1646
|
Small Variation |
MIR146A |
NR_029701.1:n.60C>G |
isolated CHD: TOF |
|
V1647
|
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
|
V1648
|
Small Variation |
MTHFR |
NM_005957.5:c.2756A>G |
isolated CHD: NA |
|
V1649
|
Small Variation |
MTHFR |
NM_005957.5:c.1958G>A |
isolated CHD: NA |
|
V1650
|
Small Variation |
MIR34B |
NC_000011.10:g.111511840T>C |
isolated CHD/non-isolated CHD: NA |
|
V1651
|
Small Variation |
MIR34B |
NC_000011.10:g.111511840T>C |
isolated CHD: SD/PDA/other |
|
V1652
|
Small Variation |
MIR34B |
NC_000011.10:g.111511840T>C |
non-isolated CHD: NA |
|
V1653
|
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: TOF |
|
V1654
|
Small Variation |
ISL1 |
NC_000005.10:g.51394149G>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V1655
|
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
V1656
|
Small Variation |
ISL1 |
NM_002202.3:c.[*539G>T;*651A>T] |
isolated CHD: HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV |
|
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 |
|
V1660
|
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
V1661
|
Small Variation |
VEGFA |
NM_001025366.3:c.405G>C |
isolated CHD/non-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 |
|
V1669
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: PDA |
|
V1670
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: VSD |
|
V1671
|
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
V1672
|
Small Variation |
MIR143 |
NC_000005.10:g.149428827G>A |
isolated CHD/non-isolated CHD: NA |
|
V1673
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: ASD |
|
V1674
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1675
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
V1676
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PS |
|
V1677
|
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: NA |
|
V1678
|
Small Variation |
VANGL2 |
NC_000001.11:g.160399582T>G |
isolated CHD: TOF |
|
V1679
|
Small Variation |
VANGL2 |
NC_000001.11:g.160400029T>G |
isolated CHD: TOF |
|
V1680
|
Small Variation |
TMEM121 |
NC_000014.9:g.105529715_105529717dupGCC |
NA: NA |
|
V1681
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V1682
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V1683
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V1684
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.[4646320C>T;4633549C>A;4612553C>T] |
isolated CHD: ASD |
|
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, HLV/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, HLV/CoA, VSD/VSD/SV, PS |
|
V1690
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
V1691
|
Small Variation |
MS |
NA |
isolated CHD: NA |
|
V1692
|
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
NA: NA |
|
V1693
|
Small Variation |
RAF1 |
NC_000003.12:g.12575034G>A |
isolated CHD/non-isolated CHD: NA |
|
V1694
|
Small Variation |
RAF1 |
NC_000003.12:g.12582571C>T |
isolated CHD/non-isolated CHD: NA |
|
V1695
|
Small Variation |
RAF1 |
NC_000003.12:g.12594756T>G |
isolated CHD/non-isolated CHD: NA |
|
V1696
|
Small Variation |
TBX20 |
NC_000007.14:g.35182774C>T |
isolated CHD/non-isolated CHD: NA |
|
V1697
|
Small Variation |
TBX20 |
NC_000007.14:g.35233679T>C |
isolated CHD/non-isolated CHD: NA |
|
V1698
|
Small Variation |
TBX20 |
NC_000007.14:g.35241620A>C |
isolated CHD/non-isolated CHD: NA |
|
V1699
|
Small Variation |
TBX20 |
NC_000007.14:g.35248664T>C |
isolated CHD/non-isolated CHD: NA |
|
V1700
|
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1701
|
Small Variation |
TBX20 |
NC_000007.14:g.35255880T>C |
isolated CHD/non-isolated CHD: NA |
|
V1702
|
Small Variation |
TBX20 |
NC_000007.14:g.35260201T>A |
isolated CHD/non-isolated CHD: NA |
|
V1703
|
Small Variation |
BRAF |
NC_000007.14:g.140786488C>T |
isolated CHD/non-isolated CHD: NA |
|
V1704
|
Small Variation |
BRAF |
NC_000007.14:g.140800651T>A |
isolated CHD/non-isolated CHD: NA |
|
V1705
|
Small Variation |
BRAF |
NC_000007.14:g.140805389C>T |
isolated CHD/non-isolated CHD: NA |
|
V1706
|
Small Variation |
BRAF |
NC_000007.14:g.140847986A>C |
isolated CHD/non-isolated CHD: NA |
|
V1707
|
Small Variation |
BRAF |
NC_000007.14:g.140858940G>C |
isolated CHD/non-isolated CHD: NA |
|
V1708
|
Small Variation |
BRAF |
NC_000007.14:g.140914412A>T |
isolated CHD/non-isolated CHD: NA |
|
V1709
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4094777G>A |
isolated CHD/non-isolated CHD: NA |
|
V1710
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4098949G>A |
isolated CHD/non-isolated CHD: NA |
|
V1711
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4100662G>A |
isolated CHD/non-isolated CHD: NA |
|
V1712
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4115995G>A |
isolated CHD/non-isolated CHD: NA |
|
V1713
|
Small Variation |
MAP2K2 |
NC_000019.10:g.4118873T>C |
isolated CHD/non-isolated CHD: NA |
|
V1714
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD/ASD/PDA/PS/AS |
|
V1715
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: ASD |
|
V1716
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: ASD |
|
V1717
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: ASD |
|
V1718
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: VSD |
|
V1719
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: VSD |
|
V1720
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: VSD |
|
V1721
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: PDA |
|
V1722
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: PDA |
|
V1723
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: PDA |
|
V1724
|
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: NA |
|
V1725
|
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: NA |
|
V1726
|
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: NA |
|
V1727
|
Small Variation |
NFATC1 |
NM_006162.5:CTTTTAGCGCTCTGGTTCGAC |
isolated CHD: VSD |
|
V1728
|
Small Variation |
NFATC1 |
NM_006162.5:TATTCCCTTGATG |
isolated CHD: VSD |
|
V1729
|
Small Variation |
MESP1 |
NM_018670.3:c.352C>T |
non-isolated CHD: DORV, VSD |
|
V1730
|
Small Variation |
MEF2C |
NM_002397.5:c.43C>T |
non-isolated CHD: DORV, VSD |
|
V1731
|
Small Variation |
NRP1 |
NC_000010.11:g.33177591T>C |
isolated CHD: TOF |
|
V1732
|
Small Variation |
NRP1 |
NC_000010.11:g.33178180G>A |
isolated CHD: TOF |
|
V1733
|
Small Variation |
NRP1 |
NC_000010.11:g.33178611A>G |
isolated CHD: TOF |
|
V1734
|
Small Variation |
NRP1 |
NC_000010.11:g.33178722G>A |
isolated CHD: TOF |
|
V1735
|
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: TOF |
|
V1736
|
Small Variation |
NRP1 |
NC_000010.11:g.33192550A>G |
isolated CHD: TOF |
|
V1737
|
Small Variation |
NRP1 |
NC_000010.11:g.33197034T>C |
isolated CHD: TOF |
|
V1738
|
Small Variation |
NRP1 |
NC_000010.11:g.33206339C>T |
isolated CHD: TOF |
|
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 |
|
V1741
|
Small Variation |
NRP1 |
NC_000010.11:g.33335167C>T |
isolated CHD: TOF |
|
V1742
|
Small Variation |
NRP1 |
NC_000010.11:g.[33177591T>C;33178180G>A;33178611G>A;33178722G>A] |
isolated CHD: TOF |
|
V1743
|
Small Variation |
NRP1 |
NC_000010.11:g.[33192550A>G;33197034T>C] |
isolated CHD: TOF |
|
V1744
|
Small Variation |
NRP1 |
NC_000010.11:g.[33206339C>T;33221840G>A] |
isolated CHD: TOF |
|
V1745
|
Small Variation |
NRP1 |
NC_000010.11:g.[33334323G>A;33335167C>T] |
isolated CHD: TOF |
|
V1746
|
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: ASD/VSD/PDA/TOF/other |
|
V1747
|
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: ASD |
|
V1748
|
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: VSD |
|
V1749
|
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: ASD/VSD/PDA/TOF/other |
|
V1750
|
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: ASD |
|
V1751
|
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: VSD |
|
V1752
|
Small Variation |
ZW10 |
NC_000011.10:g.113731833T>G |
isolated CHD: ASD/VSD/PDA/TOF/other |
|
V1753
|
Small Variation |
ZW10 |
NC_000011.10:g.113731833T>G |
isolated CHD: ASD |
|
V1754
|
Small Variation |
ZW10 |
NC_000011.10:g.113731833T>G |
isolated CHD: VSD |
|
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 |
|
V1757
|
Small Variation |
N/A |
NA |
isolated CHD: TOF |
|
V1758
|
Small Variation |
N/A |
NA |
isolated CHD: Shone's Complex |
|
V1759
|
Small Variation |
N/A |
NA |
non-isolated CHD: DORV, TGA |
|
V1760
|
Small Variation |
N/A |
NA |
non-isolated CHD: TA, PVR |
|
V1761
|
Small Variation |
N/A |
NA |
isolated CHD: TGA |
|
V1762
|
Small Variation |
N/A |
NA |
isolated CHD: TOF |
|
V1763
|
Small Variation |
NKX2-5 |
NM_004387.4:c.494C>T |
non-isolated CHD: HLHS, hypoplastic mitral and aortic valve, AS |
|
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 |
|
V1785
|
Small Variation |
CSRP1 |
NM_004078.3:c.447_460dupTGGCAAAGGCCTTG |
isolated CHD: PDA |
|
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 |
|
V1788
|
Small Variation |
MIR138-2 |
NC_000016.10:g.56858519G>T |
isolated CHD: VSD/ASD/TOF/PDA |
|
V1789
|
Small Variation |
MIR138-2 |
NC_000016.10:g.56858519G>T |
isolated CHD: VSD/ASD/TOF/PDA |
|
V1790
|
Small Variation |
MIR138-2 |
NC_000016.10:g.56858681G>A |
isolated CHD: VSD/ASD/TOF/PDA |
|
V1791
|
Small Variation |
MIR138-2 |
NC_000016.10:g.56858519G>T |
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 |
|
V1795
|
Small Variation |
PRR21 |
NC_000002.12:g.240042663C>T |
isolated CHD: TOF |
|
V1796
|
Small Variation |
CTBP1 |
NC_000004.12:g.1237208A>T |
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 |
|
V1804
|
Small Variation |
CELA1 |
NC_000012.12:g.51346625T>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 |
|
V1807
|
Small Variation |
BAGE5 |
NC_000013.11:g.11068057A>T |
isolated CHD: TOF |
|
V1808
|
Small Variation |
POU3F3 |
NM_006236.3:c.589_591delGCC |
isolated CHD: TOF |
|
V1809
|
Small Variation |
ATXN2 |
NC_000012.12:g.111598972_111598973insTGT |
isolated CHD: TOF |
|
V1810
|
Small Variation |
N/A |
NC_000004.12:g.13632183delT |
isolated CHD: TOF |
|
V1811
|
Small Variation |
GPSM1 |
NC_000009.12:g.136327352_136327358delCCCCCTC |
isolated CHD: TOF |
|
V1812
|
Small Variation |
MYO15B |
NM_001309242.1:c.6065_6067delAGG |
isolated CHD: TOF |
|
V1813
|
Small Variation |
OR7E24 |
NM_001079935.1:c.32delT |
isolated CHD: TOF |
|
V1814
|
Small Variation |
SPACA6P |
NM_001316972.1:c.214+336_214+337insAG |
isolated CHD: TOF |
|
V1815
|
Small Variation |
PDHA1 |
NM_000284.4:c.57+1652delC |
isolated CHD: TOF |
|
V1816
|
Small Variation |
TBX1 |
NM_005992.1:c.698C>A |
non-isolated CHD: TGA, VSD |
|
V1817
|
Small Variation |
ACVR1 |
NM_001105.4:N/A |
isolated CHD: LSL |
|
V1818
|
Small Variation |
JARID2 |
NM_004973.4:N/A |
isolated CHD: LSL |
|
V1819
|
Small Variation |
KMT2D |
NM_003482.3:N/A |
isolated CHD: LSL |
|
V1820
|
Small Variation |
NF1 |
NM_000267.3:N/A |
isolated CHD: LSL |
|
V1821
|
Small Variation |
NR2F2 |
NM_021005.4:N/A |
isolated CHD: LSL |
|
V1822
|
Small Variation |
PLRG1 |
NM_002669.4:N/A |
isolated CHD: LSL |
|
V1823
|
Small Variation |
SMURF1 |
NM_020429.2:N/A |
isolated CHD: LSL |
|
V1824
|
Small Variation |
TBX20 |
NM_001077653.2:N/A |
isolated CHD: LSL |
|
V1825
|
Small Variation |
ZEB2 |
NM_014795.4:N/A |
isolated CHD: LSL |
|
V1826
|
Small Variation |
ARHGEF11 |
NM_014784.3:N/A |
isolated CHD: LSL |
|
V1827
|
Small Variation |
CCDC91 |
NM_018318.4:N/A |
isolated CHD: LSL |
|
V1828
|
Small Variation |
CDH2 |
NM_001792.5:N/A |
isolated CHD: LSL |
|
V1829
|
Small Variation |
E2F6 |
NM_198256.4:N/A |
isolated CHD: LSL |
|
V1830
|
Small Variation |
FGF19 |
NM_005117.3:N/A |
isolated CHD: LSL |
|
V1831
|
Small Variation |
GJC1 |
NM_005497.4:N/A |
isolated CHD: LSL |
|
V1832
|
Small Variation |
GLRX3 |
NM_006541.5:N/A |
isolated CHD: LSL |
|
V1833
|
Small Variation |
LATS2 |
NM_014572.3:N/A |
isolated CHD: LSL |
|
V1834
|
Small Variation |
LTBP1 |
NM_000627.3:N/A |
isolated CHD: LSL |
|
V1835
|
Small Variation |
MNDA |
NM_002432.3:N/A |
isolated CHD: LSL |
|
V1836
|
Small Variation |
PCDHGA2 |
NA |
isolated CHD: LSL |
|
V1837
|
Small Variation |
PCSK6 |
NM_002570.5:N/A |
isolated CHD: LSL |
|
V1838
|
Small Variation |
RAC1 |
NM_006908.5:N/A |
isolated CHD: LSL |
|
V1839
|
Small Variation |
DNAH5 |
NM_001369.2:N/A |
isolated CHD: LSL |
|
V1840
|
Small Variation |
OFD1 |
NM_003611.3:N/A |
isolated CHD: LSL |
|
V1841
|
Small Variation |
BMP1 |
NM_001199.3:N/A |
isolated CHD: LSL |
|
V1842
|
Small Variation |
JMJD6 |
NM_015167.2:N/A |
isolated CHD: LSL |
|
V1843
|
Small Variation |
ROCK1 |
NM_005406.3:N/A |
isolated CHD: LSL |
|
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 |
|
V1846
|
Small Variation |
CBS |
NM_000071.2:c.4673C>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 |
|
V2110
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172659740C>G |
isolated CHD: ASD |
|
V2111
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172661873G>A |
isolated CHD: ASD |
|
V2112
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V2113
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: ASD |
|
V2114
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: ASD |
|
V2115
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: ASD |
|
V2116
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V2117
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: VSD |
|
V2118
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: VSD |
|
V2119
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: VSD |
|
V2120
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172659740C>G |
isolated CHD: VSD |
|
V2121
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172661873G>A |
isolated CHD: VSD |
|
V2122
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: TOF |
|
V2123
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: TOF |
|
V2124
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: TOF |
|
V2125
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: TOF |
|
V2126
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172659740C>G |
isolated CHD: TOF |
|
V2127
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172661873G>A |
isolated CHD: TOF |
|
V2128
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: SV |
|
V2129
|
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: SV |
|
V2130
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: SV |
|
V2131
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: SV |
|
V2132
|
Small Variation |
chr21 |
NA |
non-isolated CHD: TGA, VSD, ASD |
|
V2133
|
Small Variation |
chr18 |
NA |
non-isolated CHD: DORV, TOF |
|
V2134
|
Small Variation |
chr21 |
NA |
non-isolated CHD: VSD, ASD |
|
V2135
|
Small Variation |
chr21 |
NA |
non-isolated CHD: TGA, VSD, ASD |
|
V2136
|
Small Variation |
chr11 |
NA |
non-isolated CHD: CoA, VSD |
|
V2137
|
Small Variation |
chr5, chr11 |
NA |
non-isolated CHD: VSD, ASD |
|
V2138
|
Small Variation |
chr1, chr5 |
NA |
non-isolated CHD: TS, VSD |
|
V2139
|
Small Variation |
chrY |
NA |
isolated CHD: VSD |
|
V2140
|
Small Variation |
PSMB9 |
NC_000006.12:g.32857571T>C |
non-isolated CHD: TS, VSD |
|
V2141
|
Small Variation |
HLA-DMB |
NC_000006.12:g.32933010C>T |
non-isolated CHD: TS, VSD |
|
V2142
|
Small Variation |
12q24.31 |
NC_000012.12: g.124606307T>C |
non-isolated CHD: TS, VSD |
|
V2143
|
Small Variation |
12q24.31 |
NC_000012.12:g.125017003C>T |
non-isolated CHD: TS, VSD |
|
V2144
|
Small Variation |
19q13.11 |
NC_000019.10:g.34519185T>C |
non-isolated CHD: TS, VSD |
|
V2145
|
Small Variation |
19q13.11 |
NC_000019.10:g.34770164A>G |
non-isolated CHD: TS, VSD |
|
V2146
|
Small Variation |
PSG1 |
NC_000019.10:g.42878561C>T |
non-isolated CHD: TS, VSD |
|
V2147
|
Small Variation |
PSG4 |
NC_000019.10:g.43195762G>T |
non-isolated CHD: TS, VSD |
|
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 |
|
V2150
|
Small Variation |
CITED2 |
NM_006079.5:c.573_578del6 |
non-isolated CHD: TS, VSD |
|
V2151
|
Small Variation |
MTHFR |
NM_005957.5:c.1298A>C |
non-isolated CHD: TS, VSD |
|
V2152
|
Small Variation |
DNAH1 |
NM_015512.4:hetezygous mutation |
isolated CHD: D-TGA |
|
V2153
|
Small Variation |
negative |
NA |
isolated CHD: D-TGA |
|
V2154
|
Small Variation |
HOXB1 |
NM_002144.4:c.74_82dup |
isolated CHD: DORV |
|
V2155
|
Small Variation |
HOXB1 |
NM_002144.4:c.74_82dup |
isolated CHD: Pm VSD |
|
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 |
|
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 |
|
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 |
|
V2169
|
Small Variation |
NKX2-5 |
NM_004387.4:c.95A>T |
non-isolated CHD: TOF, 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 |
|
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 |
|
V2175
|
Small Variation |
MIB1 |
NM_020774.3:c.933_934insAA |
non-isolated CHD: ASD, PS |
|
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 |
|
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 |
|
V2184
|
Small Variation |
MYH6 |
NM_002471.3:c.5794A>T |
isolated CHD: OL |
|
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 |
|
V2190
|
Small Variation |
DCHS1 |
NM_003737.3:c.3326C>T |
isolated CHD: FSV |
|
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, RVOTO |
|
V2195
|
Small Variation |
N/A |
NA |
isolated CHD: VSD |
|
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 |
|
V2203
|
Small Variation |
ELN |
NM_000501.4:c.370delT |
isolated CHD: SVAS |
|
V2204
|
Small Variation |
ELN |
NM_000501.4:c.370delT |
isolated CHD: SVAS |
|
V2205
|
Small Variation |
ELN |
NM_000501.4:c.572-1G>A |
non-isolated CHD: PPS, VSD |
|
V2206
|
Small Variation |
ELN |
NM_000501.4:c.218_219insTG |
non-isolated CHD: SVAS, PPS |
|
V2207
|
Small Variation |
ELN |
NM_000501.4:negative |
isolated CHD: SVAS |
|
V2208
|
Small Variation |
NKX2-5 |
NM_004387.4:c.907G>A |
isolated CHD: TOF |
|
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 |
|
V2223
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
|
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 |
|
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 |
|
V2229
|
Small Variation |
SOX17 |
NM_022454.4:c.489_510del |
isolated CHD: VSD |
|
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 |
|
V2233
|
Small Variation |
SOX17 |
NM_022454.4:c.284A>G |
isolated CHD: PDA |
|
V2234
|
Small Variation |
SOX17 |
NM_022454.4:c.388C>T |
isolated CHD: ASD |
|
V2235
|
Small Variation |
SOX17 |
NM_022454.4:c.226A>G |
isolated CHD: PDA |
|
V2236
|
Small Variation |
HOXB1 |
NM_002144.4:c.74_82dup |
isolated CHD: DORV |
|
V2237
|
Small Variation |
HOXB1 |
NM_002144.4:c.74_82dup |
isolated CHD: Pm VSD |
|
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 |
|
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 |
|
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 |
|
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 |
|
V2250
|
Small Variation |
PCDHGA4 |
NM_018917.4:c.1187delT |
isolated CHD: ASD |
|
V2251
|
Small Variation |
SLFN14 |
NM_001129820.2:c.2557_2558insC |
isolated CHD: ASD |
|
V2252
|
Small Variation |
TBX2 |
NM_005994.4:c.-1123T>C |
isolated CHD/non-isolated CHD: NA |
|
V2253
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD/non-isolated CHD: NA |
|
V2254
|
Small Variation |
TBX2 |
NM_005994.4:c.-646C>T |
isolated CHD/non-isolated CHD: NA |
|
V2255
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: ASD |
|
V2256
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: VSD |
|
V2257
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: ASD, VSD |
|
V2258
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: DCRV, VSD |
|
V2259
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: LVOTO |
|
V2260
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: RVOTO |
|
V2261
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: APVR |
|
V2262
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: complex CHD |
|
V2263
|
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
NA: NA |
|
V2264
|
Small Variation |
NOTCH1 |
NC_000009.12 :31 variants |
isolated CHD: TOF |
|
V2265
|
Small Variation |
FLT4 |
NC_000005.10:22 variants |
isolated CHD: TOF |
|
V2266
|
Small Variation |
RYR1 |
NC_000019.10:21 variants |
isolated CHD: TOF |
|
V2267
|
Small Variation |
TBX1 |
NC_000022.11:8 variants |
isolated CHD: TOF |
|
V2268
|
Small Variation |
ZFPM1 |
NC_000016.10:11 variants |
isolated CHD: TOF |
|
V2269
|
Small Variation |
ZNF717 |
NC_000003.12 :9 variants |
isolated CHD: TOF |
|
V2270
|
Small Variation |
DLX6 |
NC_000007.14:7 variants |
isolated CHD: TOF |
|
V2271
|
Small Variation |
PCM1 |
NC_000008.11:11 variants |
isolated CHD: TOF |
|
V2272
|
Small Variation |
CAMTA2 |
NC_000017.11:9 variants |
isolated CHD: TOF |
|
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 |
|
V2277
|
Small Variation |
GATA4 |
NM_002052.5:c.-4G>A |
non-isolated CHD: TS, VSD |
|
V2278
|
Small Variation |
GATA4 |
NM_002052.5:c.909+16G>A |
non-isolated CHD: TS, VSD |
|
V2279
|
Small Variation |
GATA4 |
NM_002052.5:c.909+25G>A |
non-isolated CHD: TS, VSD |
|
V2280
|
Small Variation |
GATA4 |
NM_002052.5:c.997+2T>G |
non-isolated CHD: TS, VSD |
|
V2281
|
Small Variation |
GATA4 |
NM_002052.5:c.998-48G>A |
non-isolated CHD: TS, VSD |
|
V2282
|
Small Variation |
GATA4 |
NM_002052.5:c.998-36C>T |
non-isolated CHD: TS, VSD |
|
V2283
|
Small Variation |
GATA4 |
NM_002052.5:c.998-58C>A |
non-isolated CHD: TS, VSD |
|
V2284
|
Small Variation |
GATA4 |
NM_002052.5:c.998-5T>A |
non-isolated CHD: TS, VSD |
|
V2285
|
Small Variation |
GATA4 |
NM_002052.5:c.1147-107A>G |
non-isolated CHD: TS, 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 |
|
V2289
|
Small Variation |
PKP2 |
NM_004572.3:c.2146-1G>C |
non-isolated CHD: AVS, HAA |
|
V2290
|
Small Variation |
TBX1 |
NM_005992.1:c.385G>A |
non-isolated CHD: PA, SYPCA, VSD |
|
V2291
|
Small Variation |
PUM1 |
NM_014676.3:c.1738C>T |
non-isolated CHD: AA, HRV, MGA |
|
V2292
|
Small Variation |
MYH6 |
NM_002471.:c.831G>T |
non-isolated CHD: HLHS, Shone's Complex |
|
V2293
|
Small Variation |
KMT2D |
NM_003482.3:c.11093dup |
isolated CHD: HLHS |
|
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) |
|
V2296
|
Small Variation |
MTR |
NM_000254.2:c.2594+15T>C |
non-isolated CHD: TS, VSD |
|
V2297
|
Small Variation |
MTR |
NM_000254.2:c.*1361A>G |
non-isolated CHD: TS, VSD |
|
V2298
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD/non-isolated CHD: NA |
|
V2301
|
Small Variation |
GATA4 |
NM_002052.5:c.617-5353G>A |
isolated CHD/non-isolated CHD: NA |
|
V2302
|
Small Variation |
GATA4 |
NM_002052.5:c.617-17947C>T |
isolated CHD/non-isolated CHD: NA |
|
V2303
|
Small Variation |
FGF10 |
NC_000005.10:g.44359372T>C |
isolated CHD/non-isolated CHD: NA |
|
V2304
|
Small Variation |
FGF10 |
NC_000005.10:g.44358676C>T |
isolated CHD/non-isolated CHD: NA |
|
V2305
|
Small Variation |
FGF10 |
NC_000005.10:g.44312660G>A |
isolated CHD/non-isolated CHD: NA |
|
V2306
|
Small Variation |
FGF10 |
NC_000005.10:g.44342070A>G |
isolated CHD/non-isolated CHD: NA |
|
V2307
|
Small Variation |
FGF10 |
NC_000005.10:g.44320867G>A |
isolated CHD/non-isolated CHD: NA |
|
V2308
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: VSD/ASD/PDA |
|
V2309
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: VSD/ASD/PDA |
|
V2310
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: TOF |
|
V2311
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2312
|
Small Variation |
TBX1 |
NM_005992.1:c.1010-5255G>C |
isolated CHD: RVOTO |
|
V2316
|
Small Variation |
FGF10 |
NC_000005.10:g.44359372T>C |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2317
|
Small Variation |
GATA4 |
NM_002052.5:c.617-5353G>A |
non-isolated CHD: PA, VSD/PS, VSD |
|
V2318
|
Small Variation |
GATA4 |
NM_002052.5:c.617-17947C>T |
isolated CHD: TOF |
|
V2319
|
Small Variation |
N/A |
NA |
isolated CHD: TOF/AVSD/HLHS/UVH |
|
V2320
|
Small Variation |
N/A |
NA |
non-isolated CHD: AVSD, TGA |
|
V2321
|
Small Variation |
GATA4 |
NM_002052.5:c.783+454G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2322
|
Small Variation |
GATA4 |
NM_002052.5:c.909+20A>G |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2323
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2324
|
Small Variation |
GATA4 |
NM_002052.5:c.997+287A>C |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2325
|
Small Variation |
GATA4 |
NM_002052.5:c.997+200G>A |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
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 |
|
V2328
|
Small Variation |
GATA4 |
NM_002052.5:c.*354A>C |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2329
|
Small Variation |
GATA4 |
NM_002052.5:c.*426C>T |
isolated CHD: VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/CoA/HLHS/BAV |
|
V2330
|
Small Variation |
GATA4 |
NM_002052.5:c.*100G>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 |
|
V2334
|
Small Variation |
chr5, chr7 |
NA |
isolated CHD: BAV |
|
V2335
|
Small Variation |
GATA4 |
NM_002052.5:c.1309G>A |
isolated CHD: ASD |
|
V2336
|
Small Variation |
MIR124-1 |
NC_000008.11:g.9903189G>C |
isolated CHD/non-isolated CHD: ASD/VSD/TOF/other |
|
V2337
|
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD/non-isolated CHD: ASD/VSD/TOF/PDA/other |
|
V2338
|
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: VSD |
|
V2339
|
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: TOF |
|
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 |
|
V2343
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD/non-isolated CHD: ASD/VSD/ASD, VSD/PDA/TOF/other |
|
V2344
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD/non-isolated CHD: ASD/VSD/ASD, VSD/PDA/TOF/other |
|
V2345
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD/non-isolated CHD: ASD/VSD/ASD, VSD/PDA/TOF/other |
|
V2346
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD/non-isolated CHD: ASD/VSD/ASD, VSD/PDA/TOF/other |
|
V2347
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: ASD |
|
V2348
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: VSD |
|
V2349
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
non-isolated CHD: ASD, VSD |
|
V2350
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: PDA |
|
V2351
|
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: TOF |
|
V2352
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: ASD |
|
V2353
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: VSD |
|
V2354
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
non-isolated CHD: ASD, VSD |
|
V2355
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: PDA |
|
V2356
|
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: TOF |
|
V2357
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: ASD |
|
V2358
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: VSD |
|
V2359
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
non-isolated CHD: ASD, VSD |
|
V2360
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: PDA |
|
V2361
|
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: TOF |
|
V2362
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: ASD |
|
V2363
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: VSD |
|
V2364
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
non-isolated CHD: ASD, VSD |
|
V2365
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: PDA |
|
V2366
|
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: TOF |
|
V2367
|
Small Variation |
DNMT1 |
NC_000019.10:g.10180505T>C |
isolated CHD/non-isolated CHD: VSD/ASD/TOF/PDA/PAH/DORV/PS/AS/VSD, PFO/VSD, PFO, PAH/ASD, PAH/ASD, VSD, PAH/other |
|
V2368
|
Small Variation |
DNMT1 |
NM_001379.4:c.931A>G |
isolated CHD/non-isolated CHD: VSD/ASD/TOF/PDA/PAH/DORV/PS/AS/VSD, PFO/VSD, PFO, PAH/ASD, PAH/ASD, VSD, PAH/other |
|
V2369
|
Small Variation |
DNMT1 |
NC_000019.10:g.10146569G>A |
isolated CHD/non-isolated CHD: VSD/ASD/TOF/PDA/PAH/DORV/PS/AS/VSD, PFO/VSD, PFO, PAH/ASD, PAH/ASD, VSD, PAH/other |
|
V2370
|
Small Variation |
DNMT1 |
NC_000019.10:g.10189741A>G |
isolated CHD/non-isolated CHD: VSD/ASD/TOF/PDA/PAH/DORV/PS/AS/VSD, PFO/VSD, PFO, PAH/ASD, PAH/ASD, VSD, PAH/other |
|
V2371
|
Small Variation |
CITED2 |
NM_006079.5:c.418C>T |
isolated CHD: TOF |
|
V2372
|
Small Variation |
CITED2 |
NM_006079.5:c.548C>T |
isolated CHD: VSD |
|
V2373
|
Small Variation |
CITED2 |
NM_006079.5:c.586A>G |
isolated CHD: VSD |
|
V2374
|
Small Variation |
CITED2 |
NM_006079.5:c.481_483delAGC |
isolated CHD: ASD |
|
V2375
|
Small Variation |
CITED2 |
NM_006079.5:c.574_579delAGCGGC |
isolated CHD: VSD |
|
V2376
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V2377
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V2378
|
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
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 |
|
V2382
|
Small Variation |
NFE2L2 |
NC_000002.12:g.177253424C>T |
NA: NA |
|
V2383
|
Small Variation |
MTRR |
NM_024010.4:c.66A>G |
NA: NA |
|
V2384
|
Small Variation |
CBS |
NM_000071.3:c.699C>T |
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 |
|
V2388
|
Small Variation |
DHFR |
NM_002439.5:c.199_207del |
NA: NA |
|
V2389
|
Small Variation |
CN2 |
NM_000355.4:c.776G>C |
NA: NA |
|
V2390
|
Small Variation |
TYMS |
NM_001071.4:c.*450_*455del |
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 |
|
V2395
|
Small Variation |
GATA5 |
NM_080473.5:c.394C>G |
isolated CHD: ASD |
|
V2396
|
Small Variation |
GATA5 |
NA |
non-isolated CHD: DORV, VSD |
|
V2397
|
Small Variation |
GATA5 |
NM_080473.5:c.569T>C |
isolated CHD: VSD |
|
V2398
|
Small Variation |
GATA5 |
NM_080473.5:c.569T>C |
isolated CHD: TOF |
|
V2399
|
Small Variation |
GATA5 |
NM_080473.5:c.667A>C |
isolated CHD: TOF |
|
V2400
|
Small Variation |
GATA5 |
NA |
non-isolated CHD: VSD, AS |
|
V2401
|
Small Variation |
GATA5 |
NM_080473.5:c.821A>G |
isolated CHD: VSD |
|
V2402
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD/non-isolated CHD: CTDs/SD/LVOTO/RVOTO/APVR/complex CHD/ASD/VSD/TOF/other |
|
V2403
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: CTDs |
|
V2404
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: SD |
|
V2405
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: LVOTO |
|
V2406
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: RVOTO |
|
V2407
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: APVR |
|
V2408
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
non-isolated CHD: complex CHD |
|
V2409
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: CTDs/SD/LVOTO/RVOTO/APVR/CHD/ASD/VSD/TOF/other |
|
V2410
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: ASD |
|
V2411
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: VSD |
|
V2412
|
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: TOF |
|
V2413
|
Small Variation |
NFATC1 |
NA |
isolated CHD: VSD |
|
V2414
|
Small Variation |
NFATC1 |
NA |
isolated CHD: ASD |
|
V2415
|
Small Variation |
NFATC1 |
NA |
isolated CHD: BAV |
|
V2416
|
Small Variation |
KAT2B |
NM_003884.5:c.309G>A |
isolated CHD: VSD/ASD/PDA/TOF/PS/other |
|
V2417
|
Small Variation |
KAT2B |
NM_003884.5:c.1157A>G |
isolated CHD: VSD/ASD/PDA/TOF/PS/other |
|
V2418
|
Small Variation |
CFH |
NM_000186.4:c.41C>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2419
|
Small Variation |
DYNC2LI1 |
NM_001193464.2:c.240T>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2420
|
Small Variation |
DYNC2LI1 |
NM_001193464.2:c.239A>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2421
|
Small Variation |
DYNC2LI1 |
NM_001193464.2:c.389T>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2422
|
Small Variation |
DYNC2LI1 |
NM_001193464.2:c.695G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2423
|
Small Variation |
FOXH1 |
NM_003923.3:c.268T>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2424
|
Small Variation |
HSPA2 |
NM_021979.4:c.781C>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2425
|
Small Variation |
PLB1 |
NM_001170585.2:c.2341C>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2426
|
Small Variation |
PRX |
NM_181882.3:c.2816C>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2427
|
Small Variation |
RIOK1 |
NM_001348194.2:c.1127A>G |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2428
|
Small Variation |
RNF38 |
NM_194329.3:c.504C>G |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2429
|
Small Variation |
SMG7 |
NM_001174061.2:c.1232G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2430
|
Small Variation |
TMEM260 |
NM_017799.4:c.907C>G |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2431
|
Small Variation |
ZNF407 |
NM_001146189.1:c.3231T>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2432
|
Small Variation |
CATSPERG |
NM_001330496.2:c.917C>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2433
|
Small Variation |
CATSPERG |
NM_001330496.2:c.539T>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2434
|
Small Variation |
CFAP54 |
NM_001306084.2:c.848C>G |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2435
|
Small Variation |
CFAP54 |
NM_001306084.2:c.4858T>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2436
|
Small Variation |
OR52M1 |
NM_001004137.1:c.571_572del |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2437
|
Small Variation |
OR52M1 |
NM_001004137.1:c.630G>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2438
|
Small Variation |
COL11A1 |
NM_001190709.2:c.4772G>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2439
|
Small Variation |
COL11A1 |
NM_001190709.2:c.328G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2440
|
Small Variation |
CDKL5 |
NM_003159.3:c.2774_2775del |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2441
|
Small Variation |
PHKA1 |
NM_001172436.2:c.2303G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2442
|
Small Variation |
DIAPH2 |
NM_006729.5:c.3272G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2443
|
Small Variation |
NRK |
NM_198465.4:c.3728A>T |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2444
|
Small Variation |
XPNPEP2 |
NM_003399.6:c.33G>C |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2445
|
Small Variation |
TMLHE |
NM_001184797.2:c.257A>G |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2446
|
Small Variation |
FLNA |
NM_001110556.2:c.1571G>A |
isolated CHD: D-TGA/ccTGA/TGA, DORV |
|
V2447
|
Small Variation |
CITED2 |
NM_001168388.3:c.-157delG |
non-isolated CHD: ASD, VSD, PDA |
|
V2448
|
Small Variation |
FOXH1 |
NM_003923.3:c.104C>G |
isolated CHD: DORV |
|
V2449
|
Small Variation |
FOXH1 |
NM_003923.3:c.205T>C |
isolated CHD: DORV |
|
V2450
|
Small Variation |
FOXH1 |
NM_003923.3:c.205T>C |
isolated CHD: TGA |
|
V2451
|
Small Variation |
FOXH1 |
NM_003923.3:c.206T>C |
isolated CHD: TGA |
|
V2452
|
Small Variation |
FOXH1 |
NM_003923.3:c.209T>C |
isolated CHD: TGA |
|
V2453
|
Small Variation |
FOXH1 |
NM_003923.3:c.209T>C |
isolated CHD: D-TGA |
|
V2454
|
Small Variation |
FOXH1 |
NM_003923.3:c.232A>G |
isolated CHD: TOF |
|
V2455
|
Small Variation |
FOXH1 |
NM_003923.3:c.232A>G |
isolated CHD: DORV |
|
V2456
|
Small Variation |
FOXH1 |
NM_003923.3:c.277A>G |
isolated CHD: D-TGA |
|
V2457
|
Small Variation |
FOXH1 |
NM_003923.3:c.493G>C |
isolated CHD: DORV |
|
V2458
|
Small Variation |
KLHL26 |
NM_001345981.1:c.709C>T |
isolated CHD: EA |
|
V2459
|
Small Variation |
DAND5 |
NM_152654.3:c.455G>A |
isolated CHD/non-isolated CHD: NA |
|
V2460
|
Small Variation |
NOTCH1 |
NM_017617.5:c.6797T>C |
isolated CHD: VSD |
|
V2461
|
Small Variation |
NOTCH1 |
NM_017617.5:c.6797T>C |
non-siolated CHD: AVSD, PDA |
|
V2462
|
Small Variation |
MiR-143 |
NC_000005.10:g.149428245G>A |
isolated CHD: TOF/DORV/PA/TGA/PTA |
|
V2463
|
Small Variation |
MiR-143 |
NC_000005.10:g.149428518T>C |
isolated CHD: TOF/DORV/PA/TGA/PTA |
|
V2464
|
Small Variation |
CITED2 |
NM_006079.5:c.-90A>G |
isolated CHD: ASD |
|
V2465
|
Small Variation |
CITED2 |
NM_006079.5:c.-64C>T |
isolated CHD: TOF |
|
V2466
|
Small Variation |
CITED2 |
NM_006079.5:c.-43C>T |
isolated CHD: ASD |
|
V2467
|
Small Variation |
CITED2 |
NM_006079.5:c.389A>G |
isolated CHD: VSD |
|
V2468
|
Small Variation |
CITED2 |
NM_006079.5:c.450G>C |
isolated CHD: VSD |
|
V2469
|
Small Variation |
CITED2 |
NM_006079.5:c.512_538del |
isolated CHD: VSD |
|
V2470
|
Small Variation |
CITED2 |
NM_006079.5:c.716_717insG |
isolated CHD: VSD |
|
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 |
|
V2474
|
Small Variation |
CD80 |
NM_005191.4:g.119537362delT |
isolated CHD: VSD |
|
V2475
|
Small Variation |
MYBPC3 |
NM_000256.3:c.1519G>A |
isolated CHD: VSD |
|
V2476
|
Small Variation |
TRDN |
NM_001251987.2:c.134G>T |
isolated CHD: VSD |
|
V2477
|
Small Variation |
BVES |
NM_147147.3:c.407G>A |
isolated CHD: TOF |
|
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 |
|
V2481
|
Small Variation |
TNF |
NC_000006.12:g.31575254G>A |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2482
|
Small Variation |
TNF |
NC_000006.12:g.31575324G>A |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2483
|
Small Variation |
TNF |
NM_000594.4:c.186+123G>A |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2484
|
Small Variation |
TNF |
NC_000006.12:g.31579203G>A |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2485
|
Small Variation |
TNF |
NC_000006.12:g.31576050G>A |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2486
|
Small Variation |
TNF |
NC_000006.12:g.31579834C>T |
isolated CHD/non-isoalted CHD: SD/CTDs/LVOTO/RVOTO/APVR/other |
|
V2487
|
Small Variation |
NA |
NA |
isolated CHD/non-isolated CHD: SV/TGA/TOF/CTDs/AVSD/RVOTO/LVOTO/TVD/VSD/ASD/other |
|
V2488
|
Small Variation |
FOXC2 |
NC_000016.10:g.86566824C>G |
isolated CHD: HLHS |
|
V2489
|
Small Variation |
FOXC2 |
NC_000016.10:g.86566824C>G |
isolated CHD/non-isolated CHD: other |
|
V2490
|
Small Variation |
TBX20 |
NC_000007.14:g.35236224C>G |
isolated CHD: HLHS |
|
V2491
|
Small Variation |
TBX20 |
NC_000007.14:g.35236224C>G |
isolated CHD/non-isolated CHD: other |
|
V2492
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V2493
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V2494
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PFO |
|
V2495
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PFO |
|
V2496
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V2497
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V2498
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: VSD |
|
V2499
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: VSD |
|
V2500
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: VSD |
|
V2501
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: VSD |
|
V2502
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V2503
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V2504
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, PDA |
|
V2505
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, PDA |
|
V2506
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PFO |
|
V2507
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PFO |
|
V2508
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PFO |
|
V2509
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PFO |
|
V2510
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD |
|
V2511
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD |
|
V2512
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD |
|
V2513
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD |
|
V2514
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
non-isolated CHD: ASD, VSD |
|
V2515
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
isolated CHD: ASD |
|
V2516
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
non-isolated CHD: ASD, PDA |
|
V2517
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
non-isolated CHD: ASD, VSD |
|
V2518
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
non-isolated CHD: ASD, VSD |
|
V2519
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: VSD, TOF |
|
V2520
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: VSD, TOF |
|
V2521
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
non-isolated CHD: VSD, TOF |
|
V2522
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
non-isolated CHD: VSD, TOF |
|
V2523
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: ASD |
|
V2524
|
Small Variation |
GATA4 |
NG_008177.2:g.78343G>R |
non-isolated CHD: ASD, PDA |
|
V2525
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD, PDA |
|
V2526
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD, PDA |
|
V2527
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD, PDA |
|
V2528
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD, PDA |
|
V2529
|
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2530
|
Small Variation |
GATA4 |
NG_008177.2:g.84991G>R |
isolated CHD: ASD |
|
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 |
|
V2533
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V2534
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V2535
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V2536
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: VSD |
|
V2537
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: VSD |
|
V2538
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: VSD |
|
V2539
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PDA |
|
V2540
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PDA |
|
V2541
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: PDA |
|
V2542
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: PDA |
|
V2543
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: PDA |
|
V2544
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, PDA |
|
V2545
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, PDA |
|
V2546
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, PDA |
|
V2547
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2548
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD, PDA |
|
V2549
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, VSD, PDA |
|
V2550
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: ASD |
|
V2551
|
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
isolated CHD: ASD |
|
V2552
|
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: ASD |
|
V2553
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
isolated CHD: ASD |
|
V2554
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: ASD |
|
V2555
|
Small Variation |
GATA4 |
NG_008177.2:g.83415G>R |
isolated CHD: ASD |
|
V2556
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>T |
isolated CHD: VSD |
|
V2557
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: VSD |
|
V2558
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>T |
isolated CHD: ASD |
|
V2559
|
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
non-isolated CHD: ASD, PDA |
|
V2560
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, VSD |
|
V2561
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>G |
non-isolated CHD: ASD, VSD |
|
V2562
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, VSD |
|
V2563
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
non-isolated CHD: ASD, VSD |
|
V2564
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD |
|
V2565
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PDA |
|
V2566
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PDA |
|
V2567
|
Small Variation |
GATA4 |
NG_008177.2:g.83318G>R |
isolated CHD: ASD |
|
V2568
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
isolated CHD: VSD |
|
V2569
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: VSD |
|
V2570
|
Small Variation |
GATA4 |
NG_008177.2:g.83415G>R |
isolated CHD: VSD |
|
V2571
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: VSD |
|
V2572
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PS |
|
V2573
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PS |
|
V2574
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PS |
|
V2575
|
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: PS |
|
V2576
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: PS |
|
V2577
|
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: PS |
|
V2578
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PS |
|
V2579
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: ASD, PDA |
|
V2580
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
non-isolated CHD: ASD, PDA |
|
V2581
|
Small Variation |
GATA4 |
NG_008177.2:g.87725T>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2582
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: VSD, DORV |
|
V2583
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
non-isolated CHD: VSD, DORV |
|
V2584
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: VSD, DORV |
|
V2585
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: VSD, DORV |
|
V2586
|
Small Variation |
GATA4 |
NG_008177.2:g.78343G>R |
non-isolated CHD: VSD, DORV |
|
V2587
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
non-isolated CHD: VSD, DORV |
|
V2588
|
Small Variation |
GATA4 |
NG_008177.2:g.83073T>Y |
non-isolated CHD: VSD, DORV |
|
V2589
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: TOF, VSD, PS |
|
V2590
|
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: TOF, VSD, PS |
|
V2591
|
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: TOF, VSD, PS |
|
V2592
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: TOF, VSD, PS |
|
V2593
|
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: TOF, VSD, PS |
|
V2594
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: TOF, VSD, PS |
|
V2595
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: TOF, VSD, PS |
|
V2596
|
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2597
|
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
non-isolated CHD: ASD, VSD, PDA |
|
V2598
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: VSD |
|
V2599
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
|
V2600
|
Small Variation |
GATA4 |
NG_008177.2:g.86268A>G |
isolated CHD: ASD |
|
V2601
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>C |
isolated CHD: ASD |
|
V2602
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: ASD |
|
V2603
|
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
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 |
|
V2606
|
Small Variation |
KMT2D |
NM_003482.3:c.8074_8075del |
isolated CHD: AA |
|
V2607
|
Small Variation |
KMT2D |
NM_003482.3:c.1845_1846del |
isolated CHD: AA |
|
V2608
|
Small Variation |
KMT2D |
NM_003482.3:c.8159G>A |
isolated CHD: AA |
|
V2609
|
Small Variation |
KMT2D |
NM_003482.3:c.16489_16491del |
isolated CHD: AA |
|
V2610
|
Small Variation |
NOTCH1 |
NM_017617.5:c.3643+1G>A |
isolated CHD: AA |
|
V2611
|
Small Variation |
NOTCH1 |
NM_017617.5:c.4015-2A>G |
isolated CHD: AA |
|
V2612
|
Small Variation |
NOTCH1 |
NM_017617.5:c.4837C>T |
isolated CHD: AA |
|
V2613
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2452dup |
isolated CHD: AA |
|
V2614
|
Small Variation |
GDF1 |
NM_001492.6:c.608G>A |
isolated CHD: unbalanced AVSD,hypoplastic left ventricle,DORV,malposed great arteries,pulmonary atresia |
|
V2615
|
Small Variation |
NOTCH1 |
NM_017617.3:g.139409115A>T |
isolated CHD: TOF |
|
V2616
|
Small Variation |
FN1 |
NM_212482.4:g.216235029C>T |
isolated CHD: TOF |
|
V2617
|
Small Variation |
ACE |
NM_000789.4:N/A |
isolated CHD: CHD |
|
V2618
|
Small Variation |
ACE |
NM_000789.4:N/A |
isolated CHD: CHD |
|
V2619
|
Small Variation |
ACE |
NM_000789.4:N/A |
isolated CHD: CHD |
|
V2620
|
Small Variation |
IL-6 |
NC_000007.14:g.22727026C>G |
isolated CHD: CHD |
|
V2621
|
Small Variation |
IL-6 |
NC_000007.14:g.22727026C>G |
isolated CHD: CHD |
|
V2622
|
Small Variation |
IL-6 |
NC_000007.14:g.22727026C>G |
isolated CHD: CHD |
|
V2623
|
Small Variation |
IL-6 |
NC_000007.14:g.22726627G>C |
isolated CHD: CHD |
|
V2624
|
Small Variation |
IL-6 |
NC_000007.14:g.22726627G>C |
isolated CHD: CHD |
|
V2625
|
Small Variation |
IL-6 |
NC_000007.14:g.22726627G>C |
isolated CHD: CHD |
|
V2626
|
Small Variation |
MESP2 |
NM_001039958.2:c.59A>T |
isolated CHD: DORV, VSD (subaortic), PFO, PH |
|
V2627
|
Small Variation |
MESP2 |
NM_001039958.2:c.346G>C |
isolated CHD: DORV, VSD (subaortic), PFO, PH |
|
V2628
|
Small Variation |
MESP2 |
NM_001039958.2:c.350A>G |
isolated CHD: DORV, VSD (subaortic), PFO, PH |
|
V2629
|
Small Variation |
MESP2 |
NM_001039958.2:c.921C>G |
isolated CHD: DORV, VSD (subaortic), PFO, PH |
|
V2630
|
Small Variation |
AKT1 |
NM_001382430.1:c.-257-93G>T |
isolated CHD: CHD |
|
V2631
|
Small Variation |
AKT1 |
NM_001382430.1:c.-257-93G>T |
isolated CHD: CHD |
|
V2632
|
Small Variation |
AKT1 |
NC_000014.9:g.104772855T>C |
isolated CHD: CHD |
|
V2633
|
Small Variation |
AKT1 |
NC_000014.9:g.104772855T>C |
isolated CHD: CHD |
|
V2634
|
Small Variation |
AKT1 |
NC_000014.9:g.104772855T>C |
isolated CHD: CHD |
|
V2635
|
Small Variation |
AKT1 |
NM_001137601.2:c.*976T>C |
isolated CHD: CHD |
|
V2636
|
Small Variation |
AKT1 |
NM_001137601.2:c.*976T>C |
isolated CHD: CHD |
|
V2637
|
Small Variation |
AKT1 |
NM_001137601.2:c.*976T>C |
isolated CHD: CHD |
|
V2638
|
Small Variation |
GLI1 |
NM_005269.3:c.3298G>C |
isolated CHD: CHD |
|
V2639
|
Small Variation |
GLI1 |
NM_005269.3:c.3298G>C |
isolated CHD: CHD |
|
V2640
|
Small Variation |
GLI1 |
NM_005269.3:c.3298G>C |
isolated CHD: CHD |
|
V2641
|
Small Variation |
GLI1 |
NM_005269.3:c.-28+299T>G |
isolated CHD: CHD |
|
V2642
|
Small Variation |
GLI1 |
NM_005269.3:c.-28+299T>G |
isolated CHD: CHD |
|
V2643
|
Small Variation |
GLI1 |
NM_005269.3:c.-28+299T>G |
isolated CHD: CHD |
|
V2644
|
Small Variation |
ISL1 |
NM_002202.3:c.499C>T |
isolated CHD: ASD |
|
V2645
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2646
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2647
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2648
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2649
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2650
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2651
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2652
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2653
|
Small Variation |
AXIN1 |
NM_003502.4:c.762T>C |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2654
|
Small Variation |
AXIN1 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2655
|
Small Variation |
AXIN1 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2656
|
Small Variation |
AXIN2 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2657
|
Small Variation |
AXIN3 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2658
|
Small Variation |
AXIN4 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2659
|
Small Variation |
AXIN5 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2660
|
Small Variation |
AXIN6 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2661
|
Small Variation |
AXIN7 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2662
|
Small Variation |
AXIN8 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2663
|
Small Variation |
AXIN9 |
NC_000016.10:g.331927C>A |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2664
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2665
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2666
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2667
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2668
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2669
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2670
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2671
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2672
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2673
|
Small Variation |
AXIN1 |
NC_000016.10:g.342461C>T |
isolated CHD: ASD/VSD/DORV/TOF |
|
V2674
|
Small Variation |
KMT2D |
NM_003482.3:c.5625dup |
isolated CHD: IAA, VSD,ASD |
|
V2675
|
Small Variation |
GATA4 |
NM_002052.5:c.221C>A |
isolated CHD: IAA, VSD,ASD |
|
V2676
|
Small Variation |
CHD7 |
NM_017780.4:c.6104-1G>A |
isolated CHD: IAA, VSD,ASD |
|
V2677
|
Small Variation |
JAG1 |
NM_000214.3:c.2122_2125del |
isolated CHD: IAA, VSD,ASD |
|
V2678
|
Small Variation |
PLD1 |
NM_002662.5:c.2447G>C |
isolated CHD: IAA, VSD,ASD |
|
V2679
|
Small Variation |
PLD1 |
NM_002662.5:c.1171C>T |
isolated CHD: IAA, VSD,ASD |
|
V2680
|
Small Variation |
PIEZO2 |
NM_001378183.1:c.2535-1G>A |
isolated CHD: IAA, VSD,ASD |
|
V2681
|
Small Variation |
FLT4 |
NM_182925.5:c.2102del |
isolated CHD: IAA, VSD,ASD |
|
V2682
|
Small Variation |
PQBP1 |
NM_001032382.2:c.461_462del |
isolated CHD: IAA, VSD,ASD |
|
V2683
|
Small Variation |
GATA6 |
NM_005257.6:c.832G>T |
isolated CHD: IAA, VSD,ASD |
|
V2684
|
Small Variation |
TAB2 |
NM_001292034.3:c.814C>T |
isolated CHD: IAA, VSD,ASD |
|
V2685
|
Small Variation |
TBX5 |
NM_181486.4:c.192G>A |
isolated CHD: IAA, VSD,ASD |
|
V2686
|
Small Variation |
SOS1 |
NM_005633.4:c.2647G>A |
isolated CHD: IAA, VSD,ASD |
|
V2687
|
Small Variation |
KMT2D |
NM_003482.3:c.12218C>G |
isolated CHD: IAA, VSD,ASD |
|
V2688
|
Small Variation |
PTPN11 |
NM_002834.5:c.836A>G |
isolated CHD: IAA, VSD,ASD |
|
V2689
|
Small Variation |
PIEZO2 |
NM_001378183.1:c.7169_7170ins |
isolated CHD: IAA, VSD,ASD |
|
V2690
|
Small Variation |
CHD7 |
NM_017780.4:c.2839C>T |
isolated CHD: IAA, VSD,ASD |
|
V2691
|
Small Variation |
GATA4 |
NM_002052.5:c.617-64G>C |
isolated CHD: ASD |
|
V2692
|
Small Variation |
GATA4 |
NM_002052.5:c.997+23A>T |
isolated CHD: ASD |
|
V2693
|
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: ASD |
|
V2694
|
Small Variation |
GATA4 |
NM_002052.5:c.998-21G>A |
isolated CHD: ASD |
|
V2695
|
Small Variation |
GATA4 |
NM_002052.5:c.1056C>T |
isolated CHD: ASD |
|
V2696
|
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: ASD |
|
V2697
|
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: ASD |
|
V2698
|
Small Variation |
MYBPC3 |
NM_000256.3:c.173C>T |
isolated CHD: BAV |
|
V2699
|
Small Variation |
KLF13 |
NM_015995.4:c.370G>T |
isolated CHD: VSD, DORV |
|
V2700
|
Small Variation |
KLF13 |
NM_015995.4:c.370G>T |
isolated CHD: VSD, DORV |
|
V2701
|
Small Variation |
KLF13 |
NM_015995.4:c.370G>T |
isolated CHD: VSD, DORV |
|
V2702
|
Small Variation |
KLF13 |
NM_015995.4:c.370G>T |
isolated CHD: VSD, DORV |
|
V2703
|
Small Variation |
KLF13 |
NM_015995.4:c.370G>T |
isolated CHD: VSD, DORV |
|
V2704
|
Small Variation |
MMP21 |
NM_147191:c.496G>T |
isolated CHD: mirror-image
dextrocardia,SV, PS
TGA |
|
V2705
|
Small Variation |
GATA4 |
NM_002052.5:c.929T>C |
isolated CHD: Secundum ASD with ASA, PAVSD, PS, and PLSVC |
|
V2706
|
Small Variation |
GATA4 |
NM_002052.5:c.929T>C |
isolated CHD: Secundum ASD with ASA, PAVSD, PS, and PLSVC |
|
V2707
|
Small Variation |
GATA4 |
NM_002052.5:c.929T>C |
isolated CHD: Secundum ASD with ASA, PAVSD, PS, and PLSVC |
|
V2708
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2709
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2710
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2711
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2712
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2713
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2714
|
Small Variation |
DICER |
NC_000014.9:g.95087805T>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2715
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2716
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2717
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2718
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2719
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2720
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2721
|
Small Variation |
DROSHA |
NC_000005.10:g.31401340A>G |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2722
|
Small Variation |
XPO5 |
NM_020750.3:c.*659A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2723
|
Small Variation |
XPO5 |
NM_020750.3:c.*660A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2724
|
Small Variation |
XPO5 |
NM_020750.3:c.*661A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2725
|
Small Variation |
XPO5 |
NM_020750.3:c.*662A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2726
|
Small Variation |
XPO5 |
NM_020750.3:c.*663A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2727
|
Small Variation |
XPO5 |
NM_020750.3:c.*664A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2728
|
Small Variation |
XPO5 |
NM_020750.3:c.*665A>C |
isolated CHD: VSD,ASD,TOF,PDA,CoA,TGA |
|
V2729
|
Small Variation |
CITED2 |
NC_000006.12:g.4078A>C |
isolated CHD: VSD |
|
V2730
|
Small Variation |
CITED2 |
NC_000006.12:g.4255C>T |
isolated CHD: VSD |
|
V2731
|
Small Variation |
CITED2 |
NC_000006.12:g.4285T>G |
isolated CHD: VSD |
|
V2732
|
Small Variation |
CITED2 |
NC_000006.12:g.4357G>A |
isolated CHD: VSD |
|
V2733
|
Small Variation |
CITED2 |
NC_000006.12:g.4698A>G |
isolated CHD: VSD |
|
V2734
|
Small Variation |
CITED2 |
NC_000006.12:g.4778G>T |
isolated CHD: VSD |
|
V2735
|
Small Variation |
CITED2 |
NC_000006.12:g.4933C>A |
isolated CHD: VSD |
|
V2736
|
Small Variation |
JAG1 |
NM_000214.3:c.2103dup |
isolated CHD: AS |
|
V2737
|
Small Variation |
KMT2A |
NM_001197104.2:c.3022_3023dup |
isolated CHD: AS |
|
V2738
|
Small Variation |
ACTC1 |
NM_005159.5:c.704C>T |
isolated CHD: AS |
|
V2739
|
Small Variation |
NONO |
NM_001145408.1:c.246_249del |
isolated CHD: EA,PS, VSD |
|
V2740
|
Small Variation |
NONO |
NM_001145408.1:c.246_249del |
isolated CHD: EA,PS, VSD |
|
V2741
|
Small Variation |
NONO |
NM_001145408.1:c.246_249del |
isolated CHD: EA,PS, VSD |
|
V2742
|
Small Variation |
NONO |
NM_001145408.1:c.471del |
isolated CHD: EA,PS, VSD |
|
V2743
|
Small Variation |
PRKAG2 |
NM_016203.3:c.1592C>A |
isolated CHD: EA,PS, VSD |
|
V2744
|
Small Variation |
KCNH2 |
NM_000238.4:c.1847A>G |
isolated CHD: EA,PS, VSD |
|
V2745
|
Small Variation |
NONO |
NM_001145408.1:c.471del |
isolated CHD: EA,PS, VSD |
|
V2746
|
Small Variation |
TPM1 |
NM_001018005.2:c.398G>A |
isolated CHD: EA,PS, VSD |
|
V2747
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2748
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2749
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2750
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2751
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2752
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2753
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2754
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2755
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2756
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2757
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2758
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2759
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2760
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2761
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2762
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2763
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2764
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2765
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2766
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2767
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2768
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2769
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2770
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2771
|
Small Variation |
HES1 |
NM_005524.4:c.‑1279_‑1278ins |
isolated CHD: DORV/TGA/ASD/VSD/PA/VSD/PDA/PFO/TOF/PS |
|
V2772
|
Small Variation |
PLD1 |
NM_002662.5:c.2083C>T |
isolated CHD: CHD |
|
V2773
|
Small Variation |
PLD1 |
NM_002662.5:c.2729G>T |
isolated CHD: CHD |
|
V2774
|
Small Variation |
PLD1 |
NM_002662.5:c.16G>A |
isolated CHD: CHD |
|
V2775
|
Small Variation |
PLD1 |
NM_002662.5:c.1085T>C |
isolated CHD: CHD |
|
V2776
|
Small Variation |
PLD1 |
NM_002662.5:c.1391A>G |
isolated CHD: CHD |
|
V2777
|
Small Variation |
PLD1 |
NM_002662.5:c.3142C>G |
isolated CHD: CHD |
|
V2778
|
Small Variation |
PLD1 |
NM_002662.5:c.2002A>T |
isolated CHD: CHD |
|
V2779
|
Small Variation |
PLD1 |
NM_002662.5:c.2002A>T |
isolated CHD: CHD |
|
V2780
|
Small Variation |
PLD1 |
NM_002662.5:c.2002A>T |
isolated CHD: CHD |
|
V2781
|
Small Variation |
PLD1 |
NM_002662.5:c.2002A>T |
isolated CHD: CHD |
|
V2782
|
Small Variation |
PLD1 |
NM_002662.5:c.2452T>C |
isolated CHD: CHD |
|
V2783
|
Small Variation |
PLD1 |
NM_002662.5:c.2023C>T |
isolated CHD: CHD |
|
V2784
|
Small Variation |
PLD1 |
NM_002662.5:c.709G>T |
isolated CHD: CHD |
|
V2785
|
Small Variation |
PLD1 |
NM_002662.5:c.1325A>C |
isolated CHD: CHD |
|
V2786
|
Small Variation |
PLD1 |
NM_002662.5:c.1482_1483del |
isolated CHD: CHD |
|
V2787
|
Small Variation |
PLD1 |
NM_002662.5:c.2098C>T |
isolated CHD: CHD |
|
V2788
|
Small Variation |
PLD1 |
NM_002662.5:c.1062G>A |
isolated CHD: CHD |
|
V2789
|
Small Variation |
PLD1 |
NM_002662.5:c.892C>T |
isolated CHD: CHD |
|
V2790
|
Small Variation |
PLD1 |
NM_002662.5:c.1219C>T |
isolated CHD: CHD |
|
V2791
|
Small Variation |
CITED2 |
NM_006079.5:c.301C>T |
isolated CHD: VSD |
|
V2792
|
Small Variation |
CITED2 |
NM_006079.5:c.21C>A |
isolated CHD: VSD\TOF\ASD\TGA |
|
V2793
|
Small Variation |
CITED2 |
NM_006079.5:c.627C>G |
isolated CHD: VSD |
|
V2794
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2795
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2796
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2797
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2798
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2799
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2800
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2801
|
Small Variation |
SOX17 |
NM_022454.4:c.553G>T |
isolated CHD: PDA, PS |
|
V2802
|
Small Variation |
WDFY3 |
NM_014991:c.349_c.350del |
isolated CHD: HLH, atresia of mitral valves,
AVS, VSD |
|
V2803
|
Small Variation |
PRKD1 |
NM_002742.3:c.265-1G>T |
isolated CHD: Septal Defects |
|
V2804
|
Small Variation |
PRKD1 |
NM_002742.3:c.265-1G>T |
isolated CHD: Septal Defects |
|
V2805
|
Small Variation |
PRKD1 |
NM_002742.3:c.265-1G>T |
isolated CHD: Septal Defects |
|
V2806
|
Small Variation |
PRKD1 |
NM_002742.3:c.265-1G>T |
isolated CHD: Septal Defects |
|
V2807
|
Small Variation |
FLNA |
NM_001110556.2:c.3415C>T |
isolated CHD: TOF |
|
V2808
|
Small Variation |
FLNA |
NM_001110556.2:c.3415C>T |
isolated CHD: TOF |
|
V2809
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2810
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2811
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2812
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2813
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2814
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2815
|
Small Variation |
SOX7 |
NM_031439.4:c.310C>T |
isolated CHD: PDA, VSD |
|
V2816
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2817
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2818
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2819
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2820
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2821
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2822
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2823
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2824
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2825
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2826
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2827
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2828
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2829
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2830
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2831
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2832
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2833
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2834
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2835
|
Small Variation |
MTHFR |
NC_000001.11:g.11790870C>T |
isolated CHD: CHD |
|
V2836
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2837
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2838
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2839
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2840
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2841
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2842
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2843
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2844
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2845
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2846
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2847
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2848
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2849
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2850
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2851
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2852
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2853
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2854
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2855
|
Small Variation |
MTHFR |
NC_000001.11:g.11796321G>A |
isolated CHD: CHD |
|
V2856
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2857
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2858
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2859
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2860
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2861
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2862
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2863
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2864
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2865
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2866
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2867
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2868
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2869
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2870
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2871
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2872
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2873
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2874
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2875
|
Small Variation |
MTHFR |
NC_000001.11:g.11829411A>G |
isolated CHD: CHD |
|
V2876
|
Small Variation |
MTHFR |
NC_000001.11:g.11797894T>C |
isolated CHD: CHD |
|
V2877
|
Small Variation |
MTHFR |
NC_000001.11:g.11797894T>C |
isolated CHD: CHD |
|
V2878
|
Small Variation |
MTHFR |
NC_000001.11:g.11797894T>C |
isolated CHD: CHD |
|
V2879
|
Small Variation |
MTHFR |
NC_000001.11:g.11797894T>C |
isolated CHD: CHD |
|
V2880
|
Small Variation |
MTHFR |
NC_000001.11:g.11797894T>C |
isolated CHD: CHD |
|
V2881
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2882
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2883
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2884
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2885
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2886
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2887
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2888
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2889
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2890
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2891
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2892
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2893
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2894
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2895
|
Small Variation |
MTHFR |
NC_000001.11:g.11797899T>C |
isolated CHD: CHD |
|
V2896
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2897
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2898
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2899
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2900
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2901
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2902
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2903
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2904
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2905
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2906
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2907
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2908
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2909
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2910
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2911
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2912
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2913
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2914
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2915
|
Small Variation |
MTHFR |
NC_000001.11:g.11792243C>T |
isolated CHD: CHD |
|
V2916
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2917
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2918
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2919
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2920
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2921
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2922
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2923
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2924
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2925
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2926
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2927
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2928
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2929
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2930
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2931
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2932
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2933
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2934
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2935
|
Small Variation |
MTHFR |
NC_000001.11:g.11786195G>A |
isolated CHD: CHD |
|
V2936
|
Small Variation |
MTHFR |
NC_000001.11:g.11803000G>A |
isolated CHD: CHD |
|
V2937
|
Small Variation |
MTHFR |
NC_000001.11:g.11803001G>A |
isolated CHD: CHD |
|
V2938
|
Small Variation |
MTHFR |
NC_000001.11:g.11803002G>A |
isolated CHD: CHD |
|
V2939
|
Small Variation |
MTHFR |
NC_000001.11:g.11803003G>A |
isolated CHD: CHD |
|
V2940
|
Small Variation |
MTHFR |
NC_000001.11:g.11803004G>A |
isolated CHD: CHD |
|
V2941
|
Small Variation |
MTHFR |
NC_000001.11:g.11803005G>A |
isolated CHD: CHD |
|
V2942
|
Small Variation |
MTHFR |
NC_000001.11:g.11803006G>A |
isolated CHD: CHD |
|
V2943
|
Small Variation |
MTHFR |
NC_000001.11:g.11803007G>A |
isolated CHD: CHD |
|
V2944
|
Small Variation |
MTHFR |
NC_000001.11:g.11803008G>A |
isolated CHD: CHD |
|
V2945
|
Small Variation |
MTHFR |
NC_000001.11:g.11803009G>A |
isolated CHD: CHD |
|
V2946
|
Small Variation |
MTHFR |
NC_000001.11:g.11803010G>A |
isolated CHD: CHD |
|
V2947
|
Small Variation |
MTHFR |
NC_000001.11:g.11803011G>A |
isolated CHD: CHD |
|
V2948
|
Small Variation |
MTHFR |
NC_000001.11:g.11803012G>A |
isolated CHD: CHD |
|
V2949
|
Small Variation |
MTHFR |
NC_000001.11:g.11803013G>A |
isolated CHD: CHD |
|
V2950
|
Small Variation |
MTHFR |
NC_000001.11:g.11803014G>A |
isolated CHD: CHD |
|
V2951
|
Small Variation |
MTHFR |
NC_000001.11:g.11803015G>A |
isolated CHD: CHD |
|
V2952
|
Small Variation |
MTHFR |
NC_000001.11:g.11803016G>A |
isolated CHD: CHD |
|
V2953
|
Small Variation |
MTHFR |
NC_000001.11:g.11803017G>A |
isolated CHD: CHD |
|
V2954
|
Small Variation |
MTHFR |
NC_000001.11:g.11803018G>A |
isolated CHD: CHD |
|
V2955
|
Small Variation |
MTHFR |
NC_000001.11:g.11803019G>A |
isolated CHD: CHD |
|
V2956
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2957
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2958
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2959
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2960
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2961
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2962
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2963
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2964
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2965
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2966
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2967
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2968
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2969
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2970
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2971
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2972
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2973
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2974
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2975
|
Small Variation |
MTHFR |
NC_000001.11:g.11806987T>C |
isolated CHD: CHD |
|
V2976
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2977
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2978
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2979
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2980
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2981
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2982
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2983
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2984
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2985
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2986
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2987
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2988
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2989
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2990
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2991
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2992
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2993
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2994
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2995
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V2996
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V2997
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V2998
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V2999
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3000
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3001
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3002
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3003
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3004
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3005
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3006
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3007
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3008
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3009
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3010
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3011
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3012
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3013
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3014
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3015
|
Small Variation |
MTHFR |
NC_000001.11:g.11780886T>C |
isolated CHD: CHD |
|
V3016
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3017
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3018
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3019
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3020
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3021
|
Small Variation |
MTHFR |
NC_000001.11:g.11794419T>G |
isolated CHD: CHD |
|
V3022
|
Small Variation |
DNAH11 |
NM_001277115.1:c.3426-1G>A |
isolated CHD: SV, incomplete TGA, PVS |
|
V3023
|
Small Variation |
GATA4 |
NC_000008.11:g.31360T>C |
isolated CHD: ASD II |
|
V3024
|
Small Variation |
GATA4 |
NC_000008.11:g.31436G>A |
isolated CHD: ASD II |
|
V3025
|
Small Variation |
GATA4 |
NC_000008.11:g.31437C>A |
isolated CHD: ASD II |
|
V3026
|
Small Variation |
GATA4 |
NC_000008.11:g.31487C>G |
isolated CHD: ASD II |
|
V3027
|
Small Variation |
GATA4 |
NC_000008.11:g.31856C>T |
isolated CHD: ASD II |
|
V3028
|
Small Variation |
NKX2-5 |
NM_004387.4:c.182C>G |
isolated CHD: VSD ,CoA |
|
V3029
|
Small Variation |
NKX2-5 |
NM_004387.4:c.284G>T |
isolated CHD: VSD ,CoA |
|
V3030
|
Small Variation |
NKX2-5 |
NM_004387.4:c.391G>A |
isolated CHD: VSD ,CoA |
|
V3031
|
Small Variation |
NKX2-5 |
NM_004387.4:c.391G>A |
isolated CHD: VSD ,CoA |
|
V3032
|
Small Variation |
NKX2-5 |
NM_004387.4:c.443C>A |
isolated CHD: VSD ,CoA |
|
V3033
|
Small Variation |
NKX2-5 |
NM_004387.4:c.739C>G |
isolated CHD: VSD ,CoA |
|
V3034
|
Small Variation |
ISL1 |
NC_000005.10:g.4187T>C |
isolated CHD: VSD |
|
V3035
|
Small Variation |
ISL1 |
NC_000005.10:g.4335A>G |
isolated CHD: VSD |
|
V3036
|
Small Variation |
ISL1 |
NC_000005.10:g.4477G>A |
isolated CHD: VSD |
|
V3037
|
Small Variation |
ISL1 |
NC_000005.10:g.4613G>A |
isolated CHD: VSD |
|
V3038
|
Small Variation |
ISL1 |
NC_000005.10:g.5324C>G |
isolated CHD: VSD |
|
V3039
|
Small Variation |
FLT4 |
NM_182925.5:c.2758C>T |
isolated CHD: TOF |
|
V3040
|
Small Variation |
FLT4 |
NM_182925.5:c.2300-1G>C |
isolated CHD: TOF |
|
V3041
|
Small Variation |
FLT4 |
NM_182925.5:c.1267dup |
isolated CHD: TOF |
|
V3042
|
Small Variation |
FLT4 |
NM_182925.5:c.2849_2850+18del |
isolated CHD: TOF |
|
V3043
|
Small Variation |
FLT4 |
NM_182925.5:c.1083C>A |
isolated CHD: TOF |
|
V3044
|
Small Variation |
FLT4 |
NM_182925.5:c.2686G>T |
isolated CHD: TOF |
|
V3045
|
Small Variation |
FLT4 |
NM_182925.5:c.2714del |
isolated CHD: TOF |
|
V3046
|
Small Variation |
FLT4 |
NM_182925.5:c.2559dup |
isolated CHD: TOF |
|
V3047
|
Small Variation |
FLT4 |
NM_182925.5:c.3002-1G>A |
isolated CHD: TOF |
|
V3048
|
Small Variation |
FLT4 |
NM_182925.5:c.3376C>T |
isolated CHD: TOF |
|
V3049
|
Small Variation |
FLT4 |
NM_182925.5:c.3002-2A>G |
isolated CHD: TOF |
|
V3050
|
Small Variation |
FLT4 |
NM_182925.5:c.1107C>G |
isolated CHD: TOF |
|
V3051
|
Small Variation |
FLT4 |
NM_182925.5:c.1902_1906dup |
isolated CHD: TOF |
|
V3052
|
Small Variation |
FLT4 |
NM_182925.5:c.3091C>T |
isolated CHD: TOF |
|
V3053
|
Small Variation |
NOTCH1 |
NM_017617.3:c.5385-2del |
isolated CHD: TOF |
|
V3054
|
Small Variation |
NOTCH1 |
NM_017617.3:c.1342C>T |
isolated CHD: TOF |
|
V3055
|
Small Variation |
NOTCH1 |
NM_017617.3:c.344del |
isolated CHD: TOF |
|
V3056
|
Small Variation |
NOTCH1 |
NM_017617.3:c.3966del |
isolated CHD: TOF |
|
V3057
|
Small Variation |
NOTCH1 |
NM_017617.3:c.5197C>T |
isolated CHD: TOF |
|
V3058
|
Small Variation |
NOTCH1 |
NM_017617.3:c.440del |
isolated CHD: TOF |
|
V3059
|
Small Variation |
NOTCH1 |
NM_017617.3:c.599G>T |
isolated CHD: TOF |
|
V3060
|
Small Variation |
NOTCH1 |
NM_017617.3:c.599G>T |
isolated CHD: TOF |
|
V3061
|
Small Variation |
NOTCH1 |
NM_017617.3:c.5624A>G |
isolated CHD: TOF |
|
V3062
|
Small Variation |
NOTCH1 |
NM_017617.3:c.1820G>A |
isolated CHD: TOF |
|
V3063
|
Small Variation |
JAG1 |
NM_000214.3:c.1984del |
isolated CHD: TOF |
|
V3064
|
Small Variation |
JAG1 |
NM_000214.3:c.2639_2640del |
isolated CHD: TOF |
|
V3065
|
Small Variation |
JAG1 |
NM_000214.3:c.2372+2T>G |
isolated CHD: TOF |
|
V3066
|
Small Variation |
TBX1 |
NM_001379200.1:c.549del |
isolated CHD: TOF |
|
V3067
|
Small Variation |
TBX1 |
NM_001379200.1:c.908+1G>A |
isolated CHD: TOF |
|
V3068
|
Small Variation |
GATA6 |
NM_005257.6:c.1502C>A |
isolated CHD: TOF |
|
V3069
|
Small Variation |
GATA6 |
NM_005257.6:c.1367G>A |
isolated CHD: TOF |
|
V3070
|
Small Variation |
KAT6A |
NM_006766.3:c.1506del |
isolated CHD: TOF |
|
V3071
|
Small Variation |
PSMD12 |
NM_002816.5:c.430C>T |
isolated CHD: TOF |
|
V3072
|
Small Variation |
CSNK2A1 |
NM_177559.2:c.131_132del |
isolated CHD: TOF |
|
V3073
|
Small Variation |
ATRX |
NM_000489.6:c.3736+1G>T |
isolated CHD: TOF |
|
V3074
|
Small Variation |
NF1 |
NM_000267.3:c.5206-1G>C |
isolated CHD: TOF |
|
V3075
|
Small Variation |
CHD7 |
NM_017780.4:c.7160C>G |
isolated CHD: TOF |
|
V3076
|
Small Variation |
ASXL1 |
NM_015338.6:c.2728C>T |
isolated CHD: TOF |
|
V3077
|
Small Variation |
GATAD2B |
NM_020699.4:c.520C>T |
isolated CHD: TOF |
|
V3078
|
Small Variation |
PIK3CA |
NM_006218.4:c.2809_2810del |
isolated CHD: TOF |
|
V3079
|
Small Variation |
RASA1 |
NM_002890.3:c.2150_2151del |
isolated CHD: TOF |
|
V3080
|
Small Variation |
NODAL |
NM_018055.5:c.692G>A |
isolated CHD: TOF |
|
V3081
|
Small Variation |
ARHGAP31 |
NM_020754.4:c.2047C>T |
isolated CHD: TOF |
|
V3082
|
Small Variation |
SMAD2 |
NM_005901.6:c.998-2A>C |
isolated CHD: TOF |
|
V3083
|
Small Variation |
DLL4 |
NM_019074.4:c.949A>C |
isolated CHD: TOF |
|
V3084
|
Small Variation |
RAF1 |
NM_001354689.3:c.1532C>T |
isolated CHD: TOF |
|
V3085
|
Small Variation |
CACNA1C |
NM_000719.7:c.1216G>A |
isolated CHD: TOF |
|
V3086
|
Small Variation |
LZTR1 |
NM_006767.4:c.742G>A |
isolated CHD: TOF |
|
V3087
|
Small Variation |
EP300 |
NM_001429.4:c.4783T>G |
isolated CHD: TOF |
|
V3088
|
Small Variation |
RANKL |
NC_000013.11:g.42560995A>G |
isolated CHD: CHD |
|
V3089
|
Small Variation |
RANKL |
NC_000013.11:g.42560996A>G |
isolated CHD: CHD |
|
V3090
|
Small Variation |
RANKL |
NC_000013.11:g.42560997A>G |
isolated CHD: CHD |
|
V3091
|
Small Variation |
RANKL |
NC_000013.11:g.42560998A>G |
isolated CHD: CHD |
|
V3092
|
Small Variation |
RANKL |
NC_000013.11:g.42560999A>G |
isolated CHD: CHD |
|
V3093
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3094
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3095
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3096
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3097
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3098
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: CHD |
|
V3099
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: CHD |
|
V3100
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: CHD |
|
V3101
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: CHD |
|
V3102
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: CHD |
|
V3103
|
Small Variation |
NFKB1 |
NM_003998.4:c.
–94ins/
delATTG |
isolated CHD: CHD |
|
V3104
|
Small Variation |
NFKB1 |
NM_003998.4:c.
–94ins/
delATTG |
isolated CHD: CHD |
|
V3105
|
Small Variation |
NFKB1 |
NM_003998.4:c.
–94ins/
delATTG |
isolated CHD: CHD |
|
V3106
|
Small Variation |
NFKB1 |
NM_003998.4:c.
–94ins/
delATTG |
isolated CHD: CHD |
|
V3107
|
Small Variation |
NFKB1 |
NM_003998.4:c.
–94ins/
delATTG |
isolated CHD: CHD |
|
V3108
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3109
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3110
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3111
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3112
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3113
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3114
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3115
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3116
|
Small Variation |
MYH6 |
NM_002471.3:c.5465_5470dup |
isolated CHD: ASD |
|
V3117
|
Small Variation |
NFATC1 |
NM_001278669.2:c.*654C>T |
isolated CHD: Conotruncal CHD |
|
V3118
|
Small Variation |
FGFRL1 |
NM_001004356.3:c.*414C>T |
isolated CHD: Conotruncal CHD |
|
V3119
|
Small Variation |
CTNNB1 |
NM_001904.4:c.*729_*730ins |
isolated CHD: Conotruncal CHD |
|
V3120
|
Small Variation |
SMAD2 |
NM_005901.6:c.*7061G>A |
isolated CHD: Conotruncal CHD |
|
V3121
|
Small Variation |
GATA4 |
NM_002052.5:c.511A>G |
isolated CHD: VSD |
|
V3122
|
Small Variation |
GATA4 |
NM_002052.5:c.*183G>A |
isolated CHD: VSD |
|
V3123
|
Small Variation |
GATA4 |
NM_002052.5:c.*303G>C |
isolated CHD: VSD |
|
V3124
|
Small Variation |
GATA4 |
NM_002052.5:c.*308G>A |
isolated CHD: VSD |
|
V3125
|
Small Variation |
GATA4 |
NM_002052.5:c.*350G>A |
isolated CHD: VSD |
|
V3126
|
Small Variation |
GATA4 |
NM_002052.5:c.*354A>C |
isolated CHD: VSD |
|
V3127
|
Small Variation |
GATA4 |
NM_002052.5:c.*369C>A |
isolated CHD: VSD |
|
V3128
|
Small Variation |
GATA4 |
NM_002052.5:c.*370C>A |
isolated CHD: VSD |
|
V3129
|
Small Variation |
GATA4 |
NM_002052.5:c.*740C>G |
isolated CHD: VSD |
|
V3130
|
Small Variation |
GATA4 |
NM_002052.5:c.*748A>G |
isolated CHD: VSD |
|
V3131
|
Small Variation |
GATA4 |
NM_002052.5:c.*781C>G |
isolated CHD: VSD |
|
V3132
|
Small Variation |
GATA4 |
NM_002052.5:c.*794A>G |
isolated CHD: VSD |
|
V3133
|
Small Variation |
GATA4 |
NM_002052.5:c.*820A>G |
isolated CHD: VSD |
|
V3134
|
Small Variation |
GATA4 |
NM_002052.5:c.*840T>G |
isolated CHD: VSD |
|
V3135
|
Small Variation |
GATA4 |
NM_002052.5:c.*852G>A |
isolated CHD: VSD |
|
V3136
|
Small Variation |
GATA4 |
NM_002052.5:c.*877A>G |
isolated CHD: VSD |
|
V3137
|
Small Variation |
GATA4 |
NM_002052.5:c.*1158C>T |
isolated CHD: VSD |
|
V3138
|
Small Variation |
GATA4 |
NM_002052.5:c.*1161G>C |
isolated CHD: VSD |
|
V3139
|
Small Variation |
GATA4 |
NM_002052.5:c.*1256A>T |
isolated CHD: VSD |
|
V3140
|
Small Variation |
GATA4 |
NM_002052.5:c.*1381A>G |
isolated CHD: VSD |
|
V3141
|
Small Variation |
GATA4 |
NM_002052.5:c.*1521C>G |
isolated CHD: VSD |
|
V3142
|
Small Variation |
NODAL |
NM_018055.5:c.152C>T |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3143
|
Small Variation |
NODAL |
NM_018055.5:c.981T>A |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3144
|
Small Variation |
NODAL |
NM_018055.5:c.54G>A |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3145
|
Small Variation |
NODAL |
NM_018055.5:c.357C>T |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3146
|
Small Variation |
NODAL |
NM_018055.5:c.561G>A |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3147
|
Small Variation |
NODAL |
NM_018055.5:c.951G>A |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3148
|
Small Variation |
ACVR1B |
NM_020328.4:c.1035G>A |
isolated CHD: Small pulmonic VSD with L-R shunt |
|
V3149
|
Small Variation |
PLXND1 |
NM_015103.2:c.1704G>A |
isolated CHD: APVR |
|
V3150
|
Small Variation |
PLXND1 |
NM_015103.2:c.3892C>T |
isolated CHD: APVR |
|
V3151
|
Small Variation |
PLXND1 |
NM_015103.2:c.3750+1G>A |
isolated CHD: APVR |
|
V3152
|
Small Variation |
PLXND1 |
NM_015103.2:c.4345A>C |
isolated CHD: APVR |
|
V3153
|
Small Variation |
PLXND1 |
NM_015103.2:c.4553T>C |
isolated CHD: APVR |
|
V3154
|
Small Variation |
PLXND1 |
NM_015103.2:c.5420C>T |
isolated CHD: APVR |
|
V3155
|
Small Variation |
PLXND1 |
NM_015103.2:c.4489T>G |
isolated CHD: APVR |
|
V3156
|
Small Variation |
PLXND1 |
NM_015103.2:c.5308C>T |
isolated CHD: APVR |
|
V3157
|
Small Variation |
GLI3 |
NM_000168.6:c.2308del |
isolated CHD: RAA |
|
V3158
|
Small Variation |
SCN5A |
NM_000335.5:c.4357C>T |
isolated CHD: RAA |
|
V3159
|
Small Variation |
FOXF1 |
NM_001451.3:c.853_854del |
isolated CHD: RAA |
|
V3160
|
Small Variation |
SCN5A |
NM_000335.5:c.362G>A |
isolated CHD: RAA |
|
V3161
|
Small Variation |
GATA6 |
NM_005257.6:c.551G>A |
isolated CHD: RAA |
|
V3162
|
Small Variation |
DNAH9 |
NM_001372.2:c.10975C>T |
isolated CHD: SV, PAS,SI |
|
V3163
|
Small Variation |
APC |
NM_000038.6:c.3662G>A |
isolated CHD: PS-PA/IVS |
|
V3164
|
Small Variation |
APC |
NM_000038.6:c.5966A>G |
isolated CHD: PS-PA/IVS |
|
V3165
|
Small Variation |
APC |
NM_000038.6:c.1811A>G |
isolated CHD: PS-PA/IVS |
|
V3166
|
Small Variation |
APC |
NM_000038.6:c.6082G>A |
isolated CHD: PS-PA/IVS |
|
V3167
|
Small Variation |
APC |
NM_000038.6:c.6566C>T |
isolated CHD: PS-PA/IVS |
|
V3168
|
Small Variation |
MED13 |
NM_005121.3:c.5003G>T |
isolated CHD: PS-PA/IVS |
|
V3169
|
Small Variation |
PCK2 |
NM_004563.4:c.1204C>T |
isolated CHD: PS-PA/IVS |
|
V3170
|
Small Variation |
PCK2 |
NM_004563.4:c.977C>T |
isolated CHD: PS-PA/IVS |
|
V3171
|
Small Variation |
PCK2 |
NM_004563.4:c.1505G>A |
isolated CHD: PS-PA/IVS |
|
V3172
|
Small Variation |
PCK2 |
NM_004563.4:c.913G>A |
isolated CHD: PS-PA/IVS |
|
V3173
|
Small Variation |
PCK2 |
NM_004563.4:c.1466C>T |
isolated CHD: PS-PA/IVS |
|
V3174
|
Small Variation |
PPP1R12A |
NM_002480.3:c.1168T>C |
isolated CHD: PS-PA/IVS |
|
V3175
|
Small Variation |
PPP1R12A |
NM_002480.3:c.26A>C |
isolated CHD: PS-PA/IVS |
|
V3176
|
Small Variation |
SOS2 |
NM_006939.4:c.1787T>A |
isolated CHD: PS-PA/IVS |
|
V3177
|
Small Variation |
TIAM1 |
NM_001353694.2:c.1144G>C |
isolated CHD: PS-PA/IVS |
|
V3178
|
Small Variation |
TIAM1 |
NM_001353694.2:c.1285G>A |
isolated CHD: PS-PA/IVS |
|
V3179
|
Small Variation |
TNR |
NM_003285.3:c.700C>T |
isolated CHD: PS-PA/IVS |
|
V3180
|
Small Variation |
TNR |
NM_003285.3:c.596G>T |
isolated CHD: PS-PA/IVS |
|
V3181
|
Small Variation |
TNR |
NM_003285.3:c.634G>C |
isolated CHD: PS-PA/IVS |
|
V3182
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3183
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3184
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3185
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3186
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3187
|
Small Variation |
TMEM260 |
NM_017799.4:c.1617del |
isolated CHD: PTA,ARSCA |
|
V3188
|
Small Variation |
MYH7 |
NM_000257.3:c.732+1G>A |
isolated CHD: EA，perimem-
branous VSD，LVNC |
|
V3189
|
Small Variation |
MYH7 |
NM_000257.3:c.732+1G>A |
isolated CHD: EA，perimem-
branous VSD，LVNC |
|
V3190
|
Small Variation |
MYH7 |
NM_000257.3:c.732+1G>A |
isolated CHD: EA，perimem-
branous VSD，LVNC |
|
V3191
|
Small Variation |
SOX9 |
NM_000346.4:c.931G>T |
isolated CHD: ASD,VSD |
|
V3192
|
Small Variation |
SOX9 |
NM_000346.4:c.931G>T |
isolated CHD: ASD,VSD |
|
V3193
|
Small Variation |
SMARCC2 |
NM_003075.5:c.3561del |
isolated CHD: TOF |
|
V3194
|
Small Variation |
SOX7 |
NM_031439.4:c.743C>T |
isolated CHD: complete AVSD/ASD/PH |
|
V3195
|
Small Variation |
SOX7 |
NM_031439.4:c.542G>A |
isolated CHD: complete AVSD/ASD/PH |
|
V3196
|
Small Variation |
SOX7 |
NM_031439.4:c.40C>G |
isolated CHD: complete AVSD/ASD/PH |
|
V3197
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3198
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3199
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3200
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3201
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3202
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3203
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3204
|
Small Variation |
SMAD1 |
NM_005900.3:c.264C>A |
isolated CHD: PDA |
|
V3205
|
Small Variation |
KCNH2 |
NM_000238.4:c.1847A>G |
isolated CHD: BVNC, PS, second-degree 2:1
AV block, and sinus bradycardia |
|
V3206
|
Small Variation |
NOTCH1 |
NM_017617.2:c.873C>G |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3207
|
Small Variation |
NOTCH1 |
NM_017617.2:c.3171+220A>G |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3208
|
Small Variation |
NOTCH1 |
NM_017617.2:c.7150C>G |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3209
|
Small Variation |
NOTCH1 |
NM_017617.2:c.4834G>A |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3210
|
Small Variation |
NOTCH1 |
NM_017617.2:c.5680G>A |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3211
|
Small Variation |
NOTCH1 |
NM_017617.2:c.314C>G |
isolated CHD: BAV/AS/TAA/CoA/VSD |
|
V3212
|
Small Variation |
KLF13 |
NM_015995.4:c.430G>T |
non-isolated CHD/isolated CHD: PDA,VSD\VSD, ASD\DORV, VSD\TGA, VSD\ASD, PDA\TOF, ASD\PTA, VSD\VSD\ASD\PDA |
|
V3213
|
Small Variation |
GLI1 |
NM_005269.3:c.820G>T |
isolated CHD: VSD,ASD |
|
V3214
|
Small Variation |
GLI1 |
NM_005269.3:c.878G>A |
isolated CHD: VSD,ASD |
|
V3215
|
Small Variation |
GLI1 |
NM_005269.3:c.1442T>A |
isolated CHD: VSD,ASD |
|
V3216
|
Small Variation |
GLI1 |
NM_005269.3:c.1776A>T |
isolated CHD: VSD,ASD |
|
V3217
|
Small Variation |
GLI1 |
NM_005269.3:c.1851G>A |
isolated CHD: VSD,ASD |
|
V3218
|
Small Variation |
GLI1 |
NM_005269.3:c.1924C>T |
isolated CHD: VSD,ASD |
|
V3219
|
Small Variation |
GLI2 |
NM_001374353.1:c.233A>C |
isolated CHD: VSD,ASD |
|
V3220
|
Small Variation |
GLI2 |
NM_001374353.1:c.1172C>T |
isolated CHD: VSD,ASD |
|
V3221
|
Small Variation |
GLI2 |
NM_001374353.1:c.2041G>A |
isolated CHD: VSD,ASD |
|
V3222
|
Small Variation |
GLI2 |
NM_001374353.1:c.2147G>T |
isolated CHD: VSD,ASD |
|
V3223
|
Small Variation |
GLI2 |
NM_001374353.1:c.2208G>C |
isolated CHD: VSD,ASD |
|
V3224
|
Small Variation |
GLI2 |
NM_001374353.1:c.2264A>G |
isolated CHD: VSD,ASD |
|
V3225
|
Small Variation |
GLI2 |
NM_001374353.1:c.2554G>A |
isolated CHD: VSD,ASD |
|
V3226
|
Small Variation |
GLI2 |
NM_001374353.1:c.3338C>T |
isolated CHD: VSD,ASD |
|
V3227
|
Small Variation |
GLI2 |
NM_001374353.1:c.3869C>T |
isolated CHD: VSD,ASD |
|
V3228
|
Small Variation |
GLI2 |
NM_001374353.1:c.4352T>G |
isolated CHD: VSD,ASD |
|
V3229
|
Small Variation |
GLI3 |
NM_000168.6:c.223C>G |
isolated CHD: VSD,ASD |
|
V3230
|
Small Variation |
GLI3 |
NM_000168.6:c.506C>T |
isolated CHD: VSD,ASD |
|
V3231
|
Small Variation |
GLI3 |
NM_000168.6:c.857C>T |
isolated CHD: VSD,ASD |
|
V3232
|
Small Variation |
GLI3 |
NM_000168.6:c.3289G>T |
isolated CHD: VSD,ASD |
|
V3233
|
Small Variation |
MYH6 |
NM_002471.3:c.1614_1615ins |
isolated CHD: isolated_CoA |
|
V3234
|
Small Variation |
MYH6 |
NM_002471.3:c.2722G>A |
isolated CHD: isolated_CoA |
|
V3235
|
Small Variation |
MYH6 |
NM_002471.3:c.2722G>A |
isolated CHD: isolated_CoA |
|
V3236
|
Small Variation |
MYH6 |
NM_002471.3:c.4036C>T |
isolated CHD: isolated_CoA |
|
V3237
|
Small Variation |
MYH6 |
NM_002471.3:c.2162G>A |
isolated CHD: isolated_CoA |
|
V3238
|
Small Variation |
MYH6 |
NM_002471.3:c.4328C>A |
isolated CHD: isolated_CoA |
|
V3239
|
Small Variation |
MYH6 |
NM_002471.3:c.5020G>A |
isolated CHD: isolated_CoA |
|
V3240
|
Small Variation |
MYH6 |
NM_002471.3:c.1753G>A |
isolated CHD: isolated_CoA |
|
V3241
|
Small Variation |
MYH6 |
NM_002471.3:c.1073T>C |
isolated CHD: isolated_CoA |
|
V3242
|
Small Variation |
MYH6 |
NM_002471.3:c.2338G>A |
isolated CHD: isolated_CoA |
|
V3243
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924406C>T |
isolated CHD: secundum ASD |
|
V3244
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924407C>T |
isolated CHD: secundum ASD |
|
V3245
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924408C>T |
isolated CHD: secundum ASD |
|
V3246
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924409C>T |
isolated CHD: secundum ASD |
|
V3247
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924410C>T |
isolated CHD: secundum ASD |
|
V3248
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924411C>T |
isolated CHD: secundum ASD |
|
V3249
|
Small Variation |
SLC2A3 |
NC_000012.12:g.7924412C>T |
isolated CHD: secundum ASD |
|
V3250
|
Small Variation |
ROBO1 |
NM_002941:c.979T>C |
isolated CHD: BAV |
|
V3251
|
Small Variation |
GATA5 |
NM_080473:c.8A>G |
isolated CHD: BAV |
|
V3252
|
Small Variation |
MEF2C |
NC_000005.10:g.3848G>C |
isolated CHD: VSD |
|
V3253
|
Small Variation |
MEF2C |
NC_000005.10:g.3867C>T |
isolated CHD: VSD |
|
V3254
|
Small Variation |
MEF2C |
NC_000005.10:g.4114T>A |
isolated CHD: VSD |
|
V3255
|
Small Variation |
MEF2C |
NC_000005.10:g.4585A>G |
isolated CHD: VSD |
|
V3256
|
Small Variation |
MEF2C |
NC_000005.10:g.4608A>C |
isolated CHD: VSD |
|
V3257
|
Small Variation |
MEF2C |
NC_000005.10:g.4722A>G |
isolated CHD: VSD |
|
V3258
|
Small Variation |
CDH2 |
NM_001308176:c.2441A>G |
isolated CHD: PDA |
|
V3259
|
Small Variation |
CDH2 |
NM_001308176:c.2060C>T |
isolated CHD: PDA |
|
V3260
|
Small Variation |
NES |
NM_006617:c.121G>A |
isolated CHD: PDA |
|
V3261
|
Small Variation |
NES |
NM_006617:c.3323T>G |
isolated CHD: PDA |
|
V3262
|
Small Variation |
SOX8 |
NM_014587:c.688A>C |
isolated CHD: PDA |
|
V3263
|
Small Variation |
EIF4G1 |
NM_004953:c.2965C>T |
isolated CHD: PDA |
|
V3264
|
Small Variation |
EIF4G1 |
NM_004953:c.3878A>G |
isolated CHD: PDA |
|
V3265
|
Small Variation |
EIF4G1 |
NM_004953:c.37G>C |
isolated CHD: PDA |
|
V3266
|
Small Variation |
ANK3 |
NM_020987.5:c.1738G>C |
isolated CHD: PDA |
|
V3267
|
Small Variation |
ANK3 |
NM_020987.5:c.11971G>C |
isolated CHD: PDA |
|
V3268
|
Small Variation |
ANK3 |
NM_020987.5:c.9782A>G |
isolated CHD: PDA |
|
V3269
|
Small Variation |
ANK3 |
NM_020987.5:c.9581G>T |
isolated CHD: PDA |
|
V3270
|
Small Variation |
ANK3 |
NM_020987.5:c.9199G>A |
isolated CHD: PDA |
|
V3271
|
Small Variation |
ANK3 |
NM_020987.5:c.9192T>A |
isolated CHD: PDA |
|
V3272
|
Small Variation |
ANK3 |
NM_020987.5:c.6832A>C |
isolated CHD: PDA |
|
V3273
|
Small Variation |
ANK3 |
NM_020987.5:c.1778G>A |
isolated CHD: PDA |
|
V3274
|
Small Variation |
HIPK1 |
NM_181358:c.982C>A |
isolated CHD: PDA |
|
V3275
|
Small Variation |
HIPK1 |
NM_181358:c.2326G>A |
isolated CHD: PDA |
|
V3276
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: SD |
|
V3277
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: SD |
|
V3278
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: SD |
|
V3279
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: SD |
|
V3280
|
Small Variation |
SLC19A1 |
NM_194255.4:c.80A>C |
isolated CHD: SD |
|
V3281
|
Small Variation |
SLC19A1 |
NM_194255.4:c.80A>C |
isolated CHD: SD |
|
V3282
|
Small Variation |
SLC19A1 |
NM_194255.4:c.80A>C |
isolated CHD: SD |
|
V3283
|
Small Variation |
SLC19A1 |
NM_194255.4:c.80A>C |
isolated CHD: SD |
|
V3284
|
Small Variation |
FPGS |
NC_000009.12:g.127800446C>T |
isolated CHD: SD |
|
V3285
|
Small Variation |
FPGS |
NC_000009.12:g.127800446C>T |
isolated CHD: SD |
|
V3286
|
Small Variation |
FPGS |
NC_000009.12:g.127800446C>T |
isolated CHD: SD |
|
V3287
|
Small Variation |
FPGS |
NC_000009.12:g.127800446C>T |
isolated CHD: SD |
|
V3288
|
Small Variation |
GNMT |
NC_000006.12:g.42960723C>T |
isolated CHD: SD |
|
V3289
|
Small Variation |
GNMT |
NC_000006.12:g.42960723C>T |
isolated CHD: SD |
|
V3290
|
Small Variation |
GNMT |
NC_000006.12:g.42960723C>T |
isolated CHD: SD |
|
V3291
|
Small Variation |
DNMT3B |
NC_000020.11:g.32786453C>T |
isolated CHD: SD |
|
V3292
|
Small Variation |
DNMT3B |
NC_000020.11:g.32786453C>T |
isolated CHD: SD |
|
V3293
|
Small Variation |
DNMT3B |
NC_000020.11:g.32786453C>T |
isolated CHD: SD |
|
V3294
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3295
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3296
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3297
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3298
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3299
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: SD |
|
V3300
|
Small Variation |
CASZ1 |
NM_001079843.2:c.73C>T |
isolated CHD: HLHS, BAV |
|
V3301
|
Small Variation |
ROCK1 |
NM_005406.2:c.2083A>T |
isolated CHD: HLHS, BAV |
|
V3302
|
Small Variation |
ROBO4 |
NM_019055.5:c.1087G>C |
isolated CHD: HLHS, BAV |
|
V3303
|
Small Variation |
CTBP2 |
NM_022802.2:c.2156G>A |
isolated CHD: HLHS, BAV |
|
V3304
|
Small Variation |
SMYD1 |
NM_198274.3:c.1321C>T |
isolated CHD: HLHS, BAV |
|
V3305
|
Small Variation |
MYH6 |
NM_002471.3:c.33_734delinsCC |
isolated CHD: HLHS, BAV |
|
V3306
|
Small Variation |
MATR3 |
NM_018834.5:c.629A>T |
isolated CHD: HLHS, BAV |
|
V3307
|
Small Variation |
NOTCH1 |
NM_017617.4:c.2995G>A |
isolated CHD: HLHS, BAV |
|
V3308
|
Small Variation |
HEY1 |
NM_012258.3:c.800C>A |
isolated CHD: HLHS, BAV |
|
V3309
|
Small Variation |
BHMT |
NM_001713.3:c.716G>A |
isolated CHD: CHD |
|
V3310
|
Small Variation |
BHMT |
NM_001713.3:c.717G>A |
isolated CHD: CHD |
|
V3311
|
Small Variation |
BHMT |
NM_001713.3:c.718G>A |
isolated CHD: CHD |
|
V3312
|
Small Variation |
BHMT |
NM_001713.3:c.477+52C>T |
isolated CHD: CHD |
|
V3313
|
Small Variation |
BHMT |
NM_001713.3:c.477+53C>T |
isolated CHD: CHD |
|
V3314
|
Small Variation |
BHMT |
NM_001713.3:c.477+54C>T |
isolated CHD: CHD |
|
V3315
|
Small Variation |
BHMT |
NC_000005.10:g.79106724C>A |
isolated CHD: CHD |
|
V3316
|
Small Variation |
BHMT |
NC_000005.10:g.79106724C>A |
isolated CHD: CHD |
|
V3317
|
Small Variation |
BHMT |
NC_000005.10:g.79106724C>A |
isolated CHD: CHD |
|
V3318
|
Small Variation |
BHMT |
NC_000005.10:g.79235514G>C |
isolated CHD: CHD |
|
V3319
|
Small Variation |
BHMT |
NC_000005.10:g.79235515G>C |
isolated CHD: CHD |
|
V3320
|
Small Variation |
BHMT |
NC_000005.10:g.79235516G>C |
isolated CHD: CHD |
|
V3321
|
Small Variation |
BHMT |
NC_000005.10:g.79227709C>G |
isolated CHD: CHD |
|
V3322
|
Small Variation |
BHMT |
NC_000005.10:g.79227709C>G |
isolated CHD: CHD |
|
V3323
|
Small Variation |
BHMT |
NC_000005.10:g.79227709C>G |
isolated CHD: CHD |
|
V3324
|
Small Variation |
BHMT |
NC_000005.10:g.79133771A>C |
isolated CHD: CHD |
|
V3325
|
Small Variation |
BHMT |
NC_000005.10:g.79133771A>C |
isolated CHD: CHD |
|
V3326
|
Small Variation |
BHMT |
NC_000005.10:g.79133771A>C |
isolated CHD: CHD |
|
V3327
|
Small Variation |
BHMT |
NC_000005.10:g.79140388C>T |
isolated CHD: CHD |
|
V3328
|
Small Variation |
BHMT |
NC_000005.10:g.79140388C>T |
isolated CHD: CHD |
|
V3329
|
Small Variation |
BHMT |
NC_000005.10:g.79140388C>T |
isolated CHD: CHD |
|
V3330
|
Small Variation |
BHMT2 |
NC_000005.10:g.79068864C>A |
isolated CHD: CHD |
|
V3331
|
Small Variation |
BHMT2 |
NC_000005.10:g.79068864C>A |
isolated CHD: CHD |
|
V3332
|
Small Variation |
BHMT2 |
NC_000005.10:g.79068864C>A |
isolated CHD: CHD |
|
V3333
|
Small Variation |
BHMT2 |
NC_000005.10:g.79072469A>G |
isolated CHD: CHD |
|
V3334
|
Small Variation |
BHMT2 |
NC_000005.10:g.79072469A>G |
isolated CHD: CHD |
|
V3335
|
Small Variation |
BHMT2 |
NC_000005.10:g.79072469A>G |
isolated CHD: CHD |
|
V3336
|
Small Variation |
BHMT2 |
NM_017614.5:c.162C>T |
isolated CHD: CHD |
|
V3337
|
Small Variation |
BHMT2 |
NM_017614.5:c.163C>T |
isolated CHD: CHD |
|
V3338
|
Small Variation |
BHMT2 |
NM_017614.5:c.164C>T |
isolated CHD: CHD |
|
V3339
|
Small Variation |
BHMT2 |
NC_000005.10:g.79055813A>C |
isolated CHD: CHD |
|
V3340
|
Small Variation |
BHMT2 |
NC_000005.10:g.79055813A>C |
isolated CHD: CHD |
|
V3341
|
Small Variation |
BHMT2 |
NC_000005.10:g.79055813A>C |
isolated CHD: CHD |
|
V3342
|
Small Variation |
BHMT2 |
NC_000005.10:g.79074078A>G |
isolated CHD: CHD |
|
V3343
|
Small Variation |
BHMT2 |
NC_000005.10:g.79074078A>G |
isolated CHD: CHD |
|
V3344
|
Small Variation |
BHMT2 |
NC_000005.10:g.79074078A>G |
isolated CHD: CHD |
|
V3345
|
Small Variation |
DRC1 |
NM_145038.5:c.470T>G |
isolated CHD: bilateral coronary artery fistulas, multiple collateral arteries from
the descending aorta, PDA, ASD, and moderate MR and mild-moderate TR |
|
V3346
|
Small Variation |
DRC1 |
NM_145038.5:c.1622A>G |
isolated CHD: bilateral coronary artery fistulas, multiple collateral arteries from
the descending aorta, PDA, ASD, and moderate MR and mild-moderate TR |
|
V3347
|
Small Variation |
KCNH2 |
NM_000238.4:c.1907C>G |
isolated CHD: TOF，coronary
sinus enlargement, and persistent LSVA |
|
V3348
|
Small Variation |
MYOM2 |
NM_003970.4:c.3097C>T |
isolated CHD: TOF |
|
V3349
|
Small Variation |
MTHFD1 |
NM_005956.4:c.401A>G |
isolated CHD: CHD |
|
V3350
|
Small Variation |
MTHFD1 |
NM_005956.4:c.401A>G |
isolated CHD: CHD |
|
V3351
|
Small Variation |
MTHFD1 |
NM_005956.4:c.401A>G |
isolated CHD: CHD |
|
V3352
|
Small Variation |
MTHFD1 |
NM_005956.4:c.401A>G |
isolated CHD: CHD |
|
V3353
|
Small Variation |
MTHFD1 |
NM_005956.4:c.401A>G |
isolated CHD: CHD |
|
V3354
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: CHD |
|
V3355
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: CHD |
|
V3356
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: CHD |
|
V3357
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: CHD |
|
V3358
|
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: CHD |
|
V3359
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2279+147A>G |
isolated CHD: CHD |
|
V3360
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2279+147A>G |
isolated CHD: CHD |
|
V3361
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2279+147A>G |
isolated CHD: CHD |
|
V3362
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2279+147A>G |
isolated CHD: CHD |
|
V3363
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2279+147A>G |
isolated CHD: CHD |
|
V3364
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2458-2060A>G |
isolated CHD: CHD |
|
V3365
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2458-2060A>G |
isolated CHD: CHD |
|
V3366
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2458-2060A>G |
isolated CHD: CHD |
|
V3367
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2458-2060A>G |
isolated CHD: CHD |
|
V3368
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2458-2060A>G |
isolated CHD: CHD |
|
V3369
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2565+86G>A |
isolated CHD: CHD |
|
V3370
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2565+86G>A |
isolated CHD: CHD |
|
V3371
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2565+86G>A |
isolated CHD: CHD |
|
V3372
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2565+86G>A |
isolated CHD: CHD |
|
V3373
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2565+86G>A |
isolated CHD: CHD |
|
V3374
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2136+31G>A |
isolated CHD: CHD |
|
V3375
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2136+31G>A |
isolated CHD: CHD |
|
V3376
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2136+31G>A |
isolated CHD: CHD |
|
V3377
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2136+31G>A |
isolated CHD: CHD |
|
V3378
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2136+31G>A |
isolated CHD: CHD |
|
V3379
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2137-617G>A |
isolated CHD: CHD |
|
V3380
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2137-617G>A |
isolated CHD: CHD |
|
V3381
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2137-617G>A |
isolated CHD: CHD |
|
V3382
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2137-617G>A |
isolated CHD: CHD |
|
V3383
|
Small Variation |
MTHFD1 |
NM_005956.4:c.2137-617G>A |
isolated CHD: CHD |
|
V3384
|
Small Variation |
MTHFD1 |
NG_012450.2:g.79529T>A |
isolated CHD: CHD |
|
V3385
|
Small Variation |
MTHFD1 |
NG_012450.2:g.79529T>A |
isolated CHD: CHD |
|
V3386
|
Small Variation |
MTHFD1 |
NG_012450.2:g.79529T>A |
isolated CHD: CHD |
|
V3387
|
Small Variation |
MTHFD1 |
NG_012450.2:g.79529T>A |
isolated CHD: CHD |
|
V3388
|
Small Variation |
MTHFD1 |
NG_012450.2:g.79529T>A |
isolated CHD: CHD |
|
V3389
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74233777A>G |
isolated CHD: CHD |
|
V3390
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74233777A>G |
isolated CHD: CHD |
|
V3391
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74233777A>G |
isolated CHD: CHD |
|
V3392
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74233777A>G |
isolated CHD: CHD |
|
V3393
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74233777A>G |
isolated CHD: CHD |
|
V3394
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74142823C>G |
isolated CHD: CHD |
|
V3395
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74142823C>G |
isolated CHD: CHD |
|
V3396
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74142823C>G |
isolated CHD: CHD |
|
V3397
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74142823C>G |
isolated CHD: CHD |
|
V3398
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74142823C>G |
isolated CHD: CHD |
|
V3399
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74195067T>A |
isolated CHD: CHD |
|
V3400
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74195067T>A |
isolated CHD: CHD |
|
V3401
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74195067T>A |
isolated CHD: CHD |
|
V3402
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74195067T>A |
isolated CHD: CHD |
|
V3403
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74195067T>A |
isolated CHD: CHD |
|
V3404
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74209594A>G |
isolated CHD: CHD |
|
V3405
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74209594A>G |
isolated CHD: CHD |
|
V3406
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74209594A>G |
isolated CHD: CHD |
|
V3407
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74209594A>G |
isolated CHD: CHD |
|
V3408
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74209594A>G |
isolated CHD: CHD |
|
V3409
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74192260A>C |
isolated CHD: CHD |
|
V3410
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74192260A>C |
isolated CHD: CHD |
|
V3411
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74192260A>C |
isolated CHD: CHD |
|
V3412
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74192260A>C |
isolated CHD: CHD |
|
V3413
|
Small Variation |
MTHFD2 |
NC_000002.12:g.74192260A>C |
isolated CHD: CHD |
|
V3414
|
Small Variation |
HECA |
NM_016217.3:c.409_410ins |
isolated CHD: ASD |
|
V3415
|
Small Variation |
HECA |
NM_016217.4:c.190_191ins |
isolated CHD: ASD |
|
V3416
|
Small Variation |
HECA |
NM_016217.5:c.610A>T |
isolated CHD: ASD |
|
V3417
|
Small Variation |
HECA |
NM_016217.6:c.739C>T |
isolated CHD: ASD |
|
V3418
|
Small Variation |
HECA |
NM_016217.7:c.788G>A |
isolated CHD: ASD |
|
V3419
|
Small Variation |
HECA |
NM_016217.3:c.959C>T |
isolated CHD: ASD |
|
V3420
|
Small Variation |
MYH6 |
NM_002471.4:c.5538G>C |
isolated CHD: VSD |
|
V3421
|
Small Variation |
MYH6 |
NM_002471.4:c.5521G>C |
isolated CHD: VSD |
|
V3422
|
Small Variation |
MYH6 |
NM_002471.4:c.5410C>A |
isolated CHD: VSD |
|
V3423
|
Small Variation |
MYH6 |
NM_002471.4:c.5260G>A |
isolated CHD: VSD |
|
V3424
|
Small Variation |
MYH6 |
NM_002471.4:c.5071C>T |
isolated CHD: VSD |
|
V3425
|
Small Variation |
MYH6 |
NM_002471.4:c.4231G>A |
isolated CHD: VSD |
|
V3426
|
Small Variation |
MYH6 |
NM_002471.4:c.4048G>A |
isolated CHD: VSD |
|
V3427
|
Small Variation |
MYH6 |
NM_002471.4:c.3379G>A |
isolated CHD: VSD |
|
V3428
|
Small Variation |
MYH6 |
NM_002471.4:c.3297G>C |
isolated CHD: VSD |
|
V3429
|
Small Variation |
MYH6 |
NM_002471.4:c.3178G>A |
isolated CHD: VSD |
|
V3430
|
Small Variation |
MYH6 |
NM_002471.4:c.2398C>T |
isolated CHD: VSD |
|
V3431
|
Small Variation |
MYH6 |
NM_002471.4:c.2398C>T |
isolated CHD: VSD |
|
V3432
|
Small Variation |
MYH6 |
NM_002471.4:c.2086C>T |
isolated CHD: VSD |
|
V3433
|
Small Variation |
MYH6 |
NM_002471.4:c.1252G>A |
isolated CHD: VSD |
|
V3434
|
Small Variation |
MYH6 |
NM_002471.4:c.1088T>C |
isolated CHD: VSD |
|
V3435
|
Small Variation |
MYH6 |
NM_002471.4:c.770G>A |
isolated CHD: VSD |
|
V3436
|
Small Variation |
MYH6 |
NM_002471.4:c.770G>A |
isolated CHD: VSD |
|
V3437
|
Small Variation |
MYH7 |
NM_000257.4:c.614G>T |
isolated CHD: VSD |
|
V3438
|
Small Variation |
MYH7 |
NM_000257.4:c.5704G>C |
isolated CHD: VSD |
|
V3439
|
Small Variation |
MYH7 |
NM_000257.4:c.5704G>C |
isolated CHD: VSD |
|
V3440
|
Small Variation |
MYH7 |
NM_000257.4:c.5704G>C |
isolated CHD: VSD |
|
V3441
|
Small Variation |
MYH7 |
NM_000257.4:c.5500G>A |
isolated CHD: VSD |
|
V3442
|
Small Variation |
MYH7 |
NM_000257.4:c.5386C>T |
isolated CHD: VSD |
|
V3443
|
Small Variation |
MYH7 |
NM_000257.4:c.4417G>A |
isolated CHD: VSD |
|
V3444
|
Small Variation |
MYH7 |
NM_000257.4:c.3801G>C |
isolated CHD: VSD |
|
V3445
|
Small Variation |
MYH7 |
NM_000257.4:c.3801G>C |
isolated CHD: VSD |
|
V3446
|
Small Variation |
MYH7 |
NM_000257.4:c.3801G>C |
isolated CHD: VSD |
|
V3447
|
Small Variation |
MYH7 |
NM_000257.4:c.1501T>G |
isolated CHD: VSD |
|
V3448
|
Small Variation |
MYL2 |
NM_000432.4:c.473T>C |
isolated CHD: VSD |
|
V3449
|
Small Variation |
MYH6 |
NM_002471.4:c.5658G>A |
isolated CHD: VSD |
|
V3450
|
Small Variation |
MYH6 |
NM_002471.4:c.5652C>T |
isolated CHD: VSD |
|
V3451
|
Small Variation |
MYH6 |
NM_002471.4:c.5652C>T |
isolated CHD: VSD |
|
V3452
|
Small Variation |
MYH6 |
NM_002471.4:c.5640C>T |
isolated CHD: VSD |
|
V3453
|
Small Variation |
MYH6 |
NM_002471.4:c.1749C>T |
isolated CHD: VSD |
|
V3454
|
Small Variation |
MYH6 |
NM_002471.4:c.1698G>A |
isolated CHD: VSD |
|
V3455
|
Small Variation |
MYH6 |
NM_002471.4:c.1410C>T |
isolated CHD: VSD |
|
V3456
|
Small Variation |
MYH7 |
NM_000257.4:c.3918C>T |
isolated CHD: VSD |
|
V3457
|
Small Variation |
MYH7 |
NM_000257.4:c.3918C>T |
isolated CHD: VSD |
|
V3458
|
Small Variation |
MYH7 |
NM_000257.4:c.3148C>A |
isolated CHD: VSD |
|
V3459
|
Small Variation |
MYH7 |
NM_000257.4:c.2769C>T |
isolated CHD: VSD |
|
V3460
|
Small Variation |
MYH7 |
NM_000257.4:c.1248T>C |
isolated CHD: VSD |
|
V3461
|
Small Variation |
MYH7 |
NM_000257.4:c.1095G>A |
isolated CHD: VSD |
|
V3462
|
Small Variation |
MYH7 |
NM_000257.4:c.783A>G |
isolated CHD: VSD |
|
V3463
|
Small Variation |
MYH7 |
NM_000257.4:c.66G>A |
isolated CHD: VSD |
|
V3464
|
Small Variation |
MYL2 |
NM_000432.4:c.456C>T |
isolated CHD: VSD |
|
V3465
|
Small Variation |
MYL2 |
NM_000432.4:c.456C>T |
isolated CHD: VSD |
|
V3466
|
Small Variation |
MYL2 |
NM_000432.4:c.456C>T |
isolated CHD: VSD |
|
V3467
|
Small Variation |
MYL2 |
NM_000432.4:c.174A>G |
isolated CHD: VSD |
|
V3468
|
Small Variation |
MYL3 |
NM_000258.3:c.105C>T |
isolated CHD: VSD |
|
V3469
|
Small Variation |
MYL3 |
NM_000258.3:c.105C>T |
isolated CHD: VSD |
|
V3470
|
Small Variation |
LRP1 |
NM_002332.3:c.10414-10415GA/AC |
isolated CHD: TOF |
|
V3471
|
Small Variation |
ISL1 |
NC_000005.10:g.4923G>C |
isolated CHD: ASD |
|
V3472
|
Small Variation |
ISL1 |
NC_000005.10:g.5079A>G |
isolated CHD: ASD |
|
V3473
|
Small Variation |
ISL1 |
NC_000005.10:g.5247A>G |
isolated CHD: ASD |
|
V3474
|
Small Variation |
ISL1 |
NC_000005.10:g.5309G>A |
isolated CHD: ASD |
|
V3475
|
Small Variation |
MYH6 |
NC_000014.9:g.4085G>C |
isolated CHD: VSD |
|
V3476
|
Small Variation |
MYH6 |
NC_000014.9:g.4716G>A |
isolated CHD: VSD |
|
V3477
|
Small Variation |
CITED2 |
NC_000006.12:g.4078A>C |
isolated CHD: ASD |
|
V3478
|
Small Variation |
CITED2 |
NC_000006.12:g.4240C>A |
isolated CHD: ASD |
|
V3479
|
Small Variation |
CITED2 |
NC_000006.12:g.4935C>T |
isolated CHD: ASD |
|
V3480
|
Small Variation |
CITED2 |
NC_000006.12:g.5027C>T |
isolated CHD: ASD |
|
V3481
|
Small Variation |
CITED2 |
NC_000006.12:g.4285T>G |
isolated CHD: ASD |
|
V3482
|
Small Variation |
CITED2 |
NC_000006.12:g.4357G>A |
isolated CHD: ASD |
|
V3483
|
Small Variation |
CITED2 |
NC_000006.12:g.5122C>A |
isolated CHD: ASD |
|
V3484
|
Small Variation |
BCOR |
NM_001123385.2:c.1448C>T |
isolated CHD: CHD/HTX |
|
V3485
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3486
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3487
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3488
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3489
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3490
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3491
|
Small Variation |
SMAD4 |
NM_005359.6:c.285T>A |
isolated CHD: PDA, BAV, TAA |
|
V3492
|
Small Variation |
FLT4 |
NM_182925.5:c.244C>T |
isolated CHD: PA, VSD |
|
V3493
|
Small Variation |
PTPN11 |
NM_002834.5:c.1403C>T |
isolated CHD: PA, VSD |
|
V3494
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3495
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3496
|
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: CHD |
|
V3497
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173237160G>A |
isolated CHD: CHD |
|
V3498
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173237160G>A |
isolated CHD: CHD |
|
V3499
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173237160G>A |
isolated CHD: CHD |
|
V3500
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173806653C>T |
isolated CHD: CHD |
|
V3501
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173806653C>T |
isolated CHD: CHD |
|
V3502
|
Small Variation |
NKX2-5 |
NC_000005.10:g.173806653C>T |
isolated CHD: CHD |
|
V3503
|
Small Variation |
ELN |
NM_000501.4:c.373G>T |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3504
|
Small Variation |
ELN |
NM_000501.4:c.1621C>T |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3505
|
Small Variation |
ELN |
NM_000501.4:c.1814del |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3506
|
Small Variation |
ELN |
NM_000501.4:c.1621C>T |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3507
|
Small Variation |
ELN |
NM_000501.4:c.1028del |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3508
|
Small Variation |
ELN |
NM_000501.4:c.266G>A |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3509
|
Small Variation |
ELN |
NM_000501.4:c.1393dup |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3510
|
Small Variation |
ELN |
NM_000501.4:c.445del |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3511
|
Small Variation |
ELN |
NM_000501.4:c.959_960dup |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3512
|
Small Variation |
ELN |
NM_000501.4:c.133G>A |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3513
|
Small Variation |
ELN |
NM_000501.4:c.1218del |
isolated CHD: ASD/Peripheral PS/SVAS |
|
V3514
|
Small Variation |
ROBO1 |
NM_002941:c.1828G>A |
isolated CHD: BAV |
|
V3515
|
Small Variation |
ROBO2 |
NM_001395656.1:c.639C>G |
isolated CHD: BAV |
|
V3516
|
Small Variation |
ROBO2 |
NM_001395656.1:c.2431C>T |
isolated CHD: BAV |
|
V3517
|
Small Variation |
ROBO3 |
NM_022370.4:c.968C>T |
isolated CHD: BAV |
|
V3518
|
Small Variation |
ROBO3 |
NM_022370.4:c.1615C>T |
isolated CHD: BAV |
|
V3519
|
Small Variation |
ROBO3 |
NM_022370.4:c.2576C>A |
isolated CHD: BAV |
|
V3520
|
Small Variation |
ROBO3 |
NM_022370.4:c.2993G>T |
isolated CHD: BAV |
|
V3521
|
Small Variation |
ROBO3 |
NM_022370.4:c.3478C>T |
isolated CHD: BAV |
|
V3522
|
Small Variation |
ROBO4 |
NM_019055:c.908C>A |
isolated CHD: BAV |
|
V3523
|
Small Variation |
ROBO4 |
NM_019055:c.1337C>A |
isolated CHD: BAV |
|
V3524
|
Small Variation |
ROBO4 |
NM_019055:c.2326C>T |
isolated CHD: BAV |
|
V3525
|
Small Variation |
ROBO4 |
NM_019055:c.3001+3G>A |
isolated CHD: BAV |
|
V3526
|
Small Variation |
SLIT1 |
NM_003061:c.446C>T |
isolated CHD: BAV |
|
V3527
|
Small Variation |
SLIT1 |
NM_003061:c.789C>A |
isolated CHD: BAV |
|
V3528
|
Small Variation |
SLIT1 |
NM_003061:c.1363C>A |
isolated CHD: BAV |
|
V3529
|
Small Variation |
SLIT1 |
NM_003061:c.3757G>A |
isolated CHD: BAV |
|
V3530
|
Small Variation |
SLIT1 |
NM_003061:c.4145A>G |
isolated CHD: BAV |
|
V3531
|
Small Variation |
SLIT1 |
NM_003061:c.4202G>T |
isolated CHD: BAV |
|
V3532
|
Small Variation |
SLIT3 |
NM_003062:c.1481G>C |
isolated CHD: BAV |
|
V3533
|
Small Variation |
SLIT3 |
NM_003062:c.1886G>A |
isolated CHD: BAV |
|
V3534
|
Small Variation |
SLIT3 |
NM_003062:c.4086C>A |
isolated CHD: BAV |
|
V3535
|
Small Variation |
PLD1 |
NM_002662.5:c.1132dup |
isolated CHD: Pulmonary valve atresia with intact ventricular septum, TVD,
foramen ovale and ASD, aortic arch-pulmonary artery collateral
circulation patent ductus arteriosus |
|
V3536
|
Small Variation |
PLD1 |
NM_002662.5:c.1132dup |
isolated CHD: Pulmonary valve atresia with intact ventricular septum, TVD,
foramen ovale and ASD, aortic arch-pulmonary artery collateral
circulation patent ductus arteriosus |
|
V3537
|
Small Variation |
ZIC3 |
NM_003413.4:c.861del |
isolated CHD: Pulmonary valve atresia with intact ventricular septum, TVD,
foramen ovale and ASD, aortic arch-pulmonary artery collateral
circulation patent ductus arteriosus |
|
V3538
|
Small Variation |
LRP1 |
NM_002332.3:c.278A>G |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3539
|
Small Variation |
LRP1 |
NM_002332.3:c.8810G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3540
|
Small Variation |
LRP1 |
NM_002332.3:c.6731G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3541
|
Small Variation |
LRP1 |
NM_002332.3:c.10835G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3542
|
Small Variation |
LRP1 |
NM_002332.3:c.5009G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3543
|
Small Variation |
LRP1 |
NM_002332.3:c.3967C>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3544
|
Small Variation |
LRP1 |
NM_002332.3:c.10360G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3545
|
Small Variation |
LRP1 |
NM_002332.3:c.5385G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3546
|
Small Variation |
LRP1 |
NM_002332.3:c.8386G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3547
|
Small Variation |
LRP1 |
NM_002332.3:c.5086G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3548
|
Small Variation |
LRP1 |
NM_002332.3:c.7012G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3549
|
Small Variation |
LRP1 |
NM_002332.3:c.3967C>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3550
|
Small Variation |
LRP1 |
NM_002332.3:c.2033G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3551
|
Small Variation |
LRP1 |
NM_002332.3:c.8672C>G |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3552
|
Small Variation |
LRP1 |
NM_002332.3:c.11020G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3553
|
Small Variation |
LRP1 |
NM_002332.3:c.841C>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3554
|
Small Variation |
LRP1 |
NM_002332.3:c.7643C>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3555
|
Small Variation |
LRP1 |
NM_002332.3:c.1405C>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3556
|
Small Variation |
LRP1 |
NM_002332.3:c.11279G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3557
|
Small Variation |
LRP1 |
NM_002332.3:c.11949G>T |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3558
|
Small Variation |
LRP1 |
NM_002332.3:c.10801G>A |
isolated CHD: bicommissural (bicuspid/ bileaflet) aortic valve/ right left fusion/CoArctation/congenital MVA |
|
V3559
|
Small Variation |
MTRR |
NM_002454.3:c.1049A>G |
isolated CHD: CHD |
|
V3560
|
Small Variation |
MTRR |
NM_002454.3:c.1049A>G |
isolated CHD: CHD |
|
V3561
|
Small Variation |
MTRR |
NM_002454.3:c.1049A>G |
isolated CHD: CHD |
|
V3562
|
Small Variation |
MTRR |
NM_002454.3:c.1049A>G |
isolated CHD: CHD |
|
V3563
|
Small Variation |
MTRR |
NM_002454.3:c.1049A>G |
isolated CHD: CHD |
|
V3564
|
Small Variation |
MTRR |
NC_000005.10:g.7874734G>A |
isolated CHD: CHD |
|
V3565
|
Small Variation |
MTRR |
NC_000005.10:g.7874734G>A |
isolated CHD: CHD |
|
V3566
|
Small Variation |
MTRR |
NC_000005.10:g.7874734G>A |
isolated CHD: CHD |
|
V3567
|
Small Variation |
MTRR |
NC_000005.10:g.7874734G>A |
isolated CHD: CHD |
|
V3568
|
Small Variation |
MTRR |
NC_000005.10:g.7874734G>A |
isolated CHD: CHD |
|
V3569
|
Small Variation |
MTRR |
NM_002454.3:c.524C>T |
isolated CHD: CHD |
|
V3570
|
Small Variation |
MTRR |
NM_002454.3:c.524C>T |
isolated CHD: CHD |
|
V3571
|
Small Variation |
MTRR |
NM_002454.3:c.524C>T |
isolated CHD: CHD |
|
V3572
|
Small Variation |
MTRR |
NM_002454.3:c.524C>T |
isolated CHD: CHD |
|
V3573
|
Small Variation |
MTRR |
NM_002454.3:c.524C>T |
isolated CHD: CHD |
|
V3574
|
Small Variation |
MTRR |
NM_002454.3:c.1371-530G>A |
isolated CHD: CHD |
|
V3575
|
Small Variation |
MTRR |
NM_002454.3:c.1371-531G>A |
isolated CHD: CHD |
|
V3576
|
Small Variation |
MTRR |
NM_002454.3:c.1371-532G>A |
isolated CHD: CHD |
|
V3577
|
Small Variation |
MTRR |
NM_002454.3:c.1371-533G>A |
isolated CHD: CHD |
|
V3578
|
Small Variation |
MTRR |
NM_002454.3:c.1371-534G>A |
isolated CHD: CHD |
|
V3579
|
Small Variation |
MTRR |
NM_002454.3:c.1911G>A |
isolated CHD: CHD |
|
V3580
|
Small Variation |
MTRR |
NM_002454.3:c.1911G>A |
isolated CHD: CHD |
|
V3581
|
Small Variation |
MTRR |
NM_002454.3:c.1911G>A |
isolated CHD: CHD |
|
V3582
|
Small Variation |
MTRR |
NM_002454.3:c.1911G>A |
isolated CHD: CHD |
|
V3583
|
Small Variation |
MTRR |
NM_002454.3:c.1911G>A |
isolated CHD: CHD |
|
V3584
|
Small Variation |
MTRR |
NM_002454.3:c.1155G>A |
isolated CHD: CHD |
|
V3585
|
Small Variation |
MTRR |
NM_002454.3:c.1155G>A |
isolated CHD: CHD |
|
V3586
|
Small Variation |
MTRR |
NM_002454.3:c.1155G>A |
isolated CHD: CHD |
|
V3587
|
Small Variation |
MTRR |
NM_002454.3:c.1155G>A |
isolated CHD: CHD |
|
V3588
|
Small Variation |
MTRR |
NM_002454.3:c.1155G>A |
isolated CHD: CHD |
|
V3589
|
Small Variation |
MTRR |
NM_002454.3:c.1783C>T |
isolated CHD: CHD |
|
V3590
|
Small Variation |
MTRR |
NM_002454.3:c.1783C>T |
isolated CHD: CHD |
|
V3591
|
Small Variation |
MTRR |
NM_002454.3:c.1783C>T |
isolated CHD: CHD |
|
V3592
|
Small Variation |
MTRR |
NM_002454.3:c.1783C>T |
isolated CHD: CHD |
|
V3593
|
Small Variation |
MTRR |
NM_002454.3:c.1783C>T |
isolated CHD: CHD |
|
V3594
|
Small Variation |
MTRR |
NM_002454.3:c.1349C>G |
isolated CHD: CHD |
|
V3595
|
Small Variation |
MTRR |
NM_002454.3:c.1349C>G |
isolated CHD: CHD |
|
V3596
|
Small Variation |
MTRR |
NM_002454.3:c.1349C>G |
isolated CHD: CHD |
|
V3597
|
Small Variation |
MTRR |
NM_002454.3:c.1349C>G |
isolated CHD: CHD |
|
V3598
|
Small Variation |
MTRR |
NM_002454.3:c.1349C>G |
isolated CHD: CHD |
|
V3599
|
Small Variation |
MTRR |
NM_002454.3:c.997C>T |
isolated CHD: CHD |
|
V3600
|
Small Variation |
MTRR |
NM_002454.3:c.997C>T |
isolated CHD: CHD |
|
V3601
|
Small Variation |
MTRR |
NM_002454.3:c.997C>T |
isolated CHD: CHD |
|
V3602
|
Small Variation |
MTRR |
NM_002454.3:c.997C>T |
isolated CHD: CHD |
|
V3603
|
Small Variation |
MTRR |
NM_002454.3:c.997C>T |
isolated CHD: CHD |
|
V3604
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V3605
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V3606
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V3607
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V3608
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V3609
|
Small Variation |
MTRR |
NC_000005.10:g.7896398C>T |
isolated CHD: CHD |
|
V3610
|
Small Variation |
MTRR |
NC_000005.10:g.7896398C>T |
isolated CHD: CHD |
|
V3611
|
Small Variation |
MTRR |
NC_000005.10:g.7896398C>T |
isolated CHD: CHD |
|
V3612
|
Small Variation |
MTRR |
NC_000005.10:g.7896398C>T |
isolated CHD: CHD |
|
V3613
|
Small Variation |
MTRR |
NC_000005.10:g.7896398C>T |
isolated CHD: CHD |
|
V3614
|
Small Variation |
MTRR |
NM_002454.3:c.769T>A |
isolated CHD: CHD |
|
V3615
|
Small Variation |
MTRR |
NM_002454.3:c.769T>A |
isolated CHD: CHD |
|
V3616
|
Small Variation |
MTRR |
NM_002454.3:c.769T>A |
isolated CHD: CHD |
|
V3617
|
Small Variation |
MTRR |
NM_002454.3:c.769T>A |
isolated CHD: CHD |
|
V3618
|
Small Variation |
MTRR |
NM_002454.3:c.769T>A |
isolated CHD: CHD |
|
V3619
|
Small Variation |
MTRR |
NM_002454.3:c.*541G>A |
isolated CHD: CHD |
|
V3620
|
Small Variation |
MTRR |
NM_002454.3:c.*541G>A |
isolated CHD: CHD |
|
V3621
|
Small Variation |
MTRR |
NM_002454.3:c.*541G>A |
isolated CHD: CHD |
|
V3622
|
Small Variation |
MTRR |
NM_002454.3:c.*541G>A |
isolated CHD: CHD |
|
V3623
|
Small Variation |
MTRR |
NM_002454.3:c.*541G>A |
isolated CHD: CHD |
|
V3624
|
Small Variation |
MTR |
NM_000254.3:c.2756A>G |
isolated CHD: CHD |
|
V3625
|
Small Variation |
MTR |
NM_000254.3:c.2756A>G |
isolated CHD: CHD |
|
V3626
|
Small Variation |
MTR |
NM_000254.3:c.2756A>G |
isolated CHD: CHD |
|
V3627
|
Small Variation |
MTR |
NM_000254.3:c.2756A>G |
isolated CHD: CHD |
|
V3628
|
Small Variation |
MTR |
NM_000254.3:c.2756A>G |
isolated CHD: CHD |
|
V3629
|
Small Variation |
MTR |
NM_000254.3:c.2775+157G>T |
isolated CHD: CHD |
|
V3630
|
Small Variation |
MTR |
NM_000254.3:c.2775+157G>T |
isolated CHD: CHD |
|
V3631
|
Small Variation |
MTR |
NM_000254.3:c.2775+157G>T |
isolated CHD: CHD |
|
V3632
|
Small Variation |
MTR |
NM_000254.3:c.2775+157G>T |
isolated CHD: CHD |
|
V3633
|
Small Variation |
MTR |
NM_000254.3:c.2775+157G>T |
isolated CHD: CHD |
|
V3634
|
Small Variation |
MTR |
NC_000001.10:g.236980504T>A |
isolated CHD: CHD |
|
V3635
|
Small Variation |
MTR |
NC_000001.10:g.236980505T>A |
isolated CHD: CHD |
|
V3636
|
Small Variation |
MTR |
NC_000001.10:g.236980506T>A |
isolated CHD: CHD |
|
V3637
|
Small Variation |
MTR |
NC_000001.10:g.236980507T>A |
isolated CHD: CHD |
|
V3638
|
Small Variation |
MTR |
NC_000001.10:g.236980508T>A |
isolated CHD: CHD |
|
V3639
|
Small Variation |
MTR |
NC_000001.10:g.237050951C>T |
isolated CHD: CHD |
|
V3640
|
Small Variation |
MTR |
NC_000001.10:g.237050951C>T |
isolated CHD: CHD |
|
V3641
|
Small Variation |
MTR |
NC_000001.10:g.237050951C>T |
isolated CHD: CHD |
|
V3642
|
Small Variation |
MTR |
NC_000001.10:g.237050951C>T |
isolated CHD: CHD |
|
V3643
|
Small Variation |
MTR |
NC_000001.10:g.237050951C>T |
isolated CHD: CHD |
|
V3644
|
Small Variation |
MTR |
NC_000001.10:g.237027668G>C |
isolated CHD: CHD |
|
V3645
|
Small Variation |
MTR |
NC_000001.10:g.237027668G>C |
isolated CHD: CHD |
|
V3646
|
Small Variation |
MTR |
NC_000001.10:g.237027668G>C |
isolated CHD: CHD |
|
V3647
|
Small Variation |
MTR |
NC_000001.10:g.237027668G>C |
isolated CHD: CHD |
|
V3648
|
Small Variation |
MTR |
NC_000001.10:g.237027668G>C |
isolated CHD: CHD |
|
V3649
|
Small Variation |
MTR |
NM_000254.3:c.*3682T>G |
isolated CHD: CHD |
|
V3650
|
Small Variation |
MTR |
NM_000254.3:c.*3682T>G |
isolated CHD: CHD |
|
V3651
|
Small Variation |
MTR |
NM_000254.3:c.*3682T>G |
isolated CHD: CHD |
|
V3652
|
Small Variation |
MTR |
NM_000254.3:c.*3682T>G |
isolated CHD: CHD |
|
V3653
|
Small Variation |
MTR |
NM_000254.3:c.*3682T>G |
isolated CHD: CHD |
|
V3654
|
Small Variation |
MTR |
NM_000254.3:c.*1361A>G |
isolated CHD: CHD |
|
V3655
|
Small Variation |
MTR |
NM_000254.3:c.*1361A>G |
isolated CHD: CHD |
|
V3656
|
Small Variation |
MTR |
NM_000254.3:c.*1361A>G |
isolated CHD: CHD |
|
V3657
|
Small Variation |
MTR |
NM_000254.3:c.*1361A>G |
isolated CHD: CHD |
|
V3658
|
Small Variation |
MTR |
NM_000254.3:c.*1361A>G |
isolated CHD: CHD |
|
V3659
|
Small Variation |
MTR |
NM_000254.3:c.3144A>G |
isolated CHD: CHD |
|
V3660
|
Small Variation |
MTR |
NM_000254.3:c.3144A>G |
isolated CHD: CHD |
|
V3661
|
Small Variation |
MTR |
NM_000254.3:c.3144A>G |
isolated CHD: CHD |
|
V3662
|
Small Variation |
MTR |
NM_000254.3:c.3144A>G |
isolated CHD: CHD |
|
V3663
|
Small Variation |
MTR |
NM_000254.3:c.3144A>G |
isolated CHD: CHD |
|
V3664
|
Small Variation |
MTR |
NC_000001.10:g.237059387A>T |
isolated CHD: CHD |
|
V3665
|
Small Variation |
MTR |
NC_000001.10:g.237059387A>T |
isolated CHD: CHD |
|
V3666
|
Small Variation |
MTR |
NC_000001.10:g.237059387A>T |
isolated CHD: CHD |
|
V3667
|
Small Variation |
MTR |
NC_000001.10:g.237059387A>T |
isolated CHD: CHD |
|
V3668
|
Small Variation |
MTR |
NC_000001.10:g.237059387A>T |
isolated CHD: CHD |
|
V3669
|
Small Variation |
MTR |
NC_000001.10:g.236996575C>T |
isolated CHD: CHD |
|
V3670
|
Small Variation |
MTR |
NC_000001.10:g.236996575C>T |
isolated CHD: CHD |
|
V3671
|
Small Variation |
MTR |
NC_000001.10:g.236996575C>T |
isolated CHD: CHD |
|
V3672
|
Small Variation |
MTR |
NC_000001.10:g.236996575C>T |
isolated CHD: CHD |
|
V3673
|
Small Variation |
MTR |
NC_000001.10:g.236996575C>T |
isolated CHD: CHD |
|
V3674
|
Small Variation |
MTR |
NC_000001.10:g.237028564G>T |
isolated CHD: CHD |
|
V3675
|
Small Variation |
MTR |
NC_000001.10:g.237028564G>T |
isolated CHD: CHD |
|
V3676
|
Small Variation |
MTR |
NC_000001.10:g.237028564G>T |
isolated CHD: CHD |
|
V3677
|
Small Variation |
MTR |
NC_000001.10:g.237028564G>T |
isolated CHD: CHD |
|
V3678
|
Small Variation |
MTR |
NC_000001.10:g.237028564G>T |
isolated CHD: CHD |
|
V3679
|
Small Variation |
MTR |
NC_000001.10:g.236974124G>A |
isolated CHD: CHD |
|
V3680
|
Small Variation |
MTR |
NC_000001.10:g.236974124G>A |
isolated CHD: CHD |
|
V3681
|
Small Variation |
MTR |
NC_000001.10:g.236974124G>A |
isolated CHD: CHD |
|
V3682
|
Small Variation |
MTR |
NC_000001.10:g.236974124G>A |
isolated CHD: CHD |
|
V3683
|
Small Variation |
MTR |
NC_000001.10:g.236974124G>A |
isolated CHD: CHD |
|
V3684
|
Small Variation |
MTR |
NC_000001.10:g.237001326C>T |
isolated CHD: CHD |
|
V3685
|
Small Variation |
MTR |
NC_000001.10:g.237001326C>T |
isolated CHD: CHD |
|
V3686
|
Small Variation |
MTR |
NC_000001.10:g.237001326C>T |
isolated CHD: CHD |
|
V3687
|
Small Variation |
MTR |
NC_000001.10:g.237001326C>T |
isolated CHD: CHD |
|
V3688
|
Small Variation |
MTR |
NC_000001.10:g.237001326C>T |
isolated CHD: CHD |
|
V3689
|
Small Variation |
MTR |
NC_000001.10:g.236987790G>T |
isolated CHD: CHD |
|
V3690
|
Small Variation |
MTR |
NC_000001.10:g.236987790G>T |
isolated CHD: CHD |
|
V3691
|
Small Variation |
MTR |
NC_000001.10:g.236987790G>T |
isolated CHD: CHD |
|
V3692
|
Small Variation |
MTR |
NC_000001.10:g.236987790G>T |
isolated CHD: CHD |
|
V3693
|
Small Variation |
MTR |
NC_000001.10:g.236987790G>T |
isolated CHD: CHD |
|
V3694
|
Small Variation |
MTR |
NC_000001.10:g.237009857C>T |
isolated CHD: CHD |
|
V3695
|
Small Variation |
MTR |
NC_000001.10:g.237009857C>T |
isolated CHD: CHD |
|
V3696
|
Small Variation |
MTR |
NC_000001.10:g.237009857C>T |
isolated CHD: CHD |
|
V3697
|
Small Variation |
MTR |
NC_000001.10:g.237009857C>T |
isolated CHD: CHD |
|
V3698
|
Small Variation |
MTR |
NC_000001.10:g.237009857C>T |
isolated CHD: CHD |
|
V3699
|
Small Variation |
MTR |
NC_000001.10:g.237060433G>T |
isolated CHD: CHD |
|
V3700
|
Small Variation |
MTR |
NC_000001.10:g.237060433G>T |
isolated CHD: CHD |
|
V3701
|
Small Variation |
MTR |
NC_000001.10:g.237060433G>T |
isolated CHD: CHD |
|
V3702
|
Small Variation |
MTR |
NC_000001.10:g.237060433G>T |
isolated CHD: CHD |
|
V3703
|
Small Variation |
MTR |
NC_000001.10:g.237060433G>T |
isolated CHD: CHD |
|
V3704
|
Small Variation |
MTR |
NC_000001.10:g.237022362T>C |
isolated CHD: CHD |
|
V3705
|
Small Variation |
MTR |
NC_000001.10:g.237022362T>C |
isolated CHD: CHD |
|
V3706
|
Small Variation |
MTR |
NC_000001.10:g.237022362T>C |
isolated CHD: CHD |
|
V3707
|
Small Variation |
MTR |
NC_000001.10:g.237022362T>C |
isolated CHD: CHD |
|
V3708
|
Small Variation |
MTR |
NC_000001.10:g.237022362T>C |
isolated CHD: CHD |
|
V3709
|
Small Variation |
MTR |
NC_000001.10:g.236989069G>C |
isolated CHD: CHD |
|
V3710
|
Small Variation |
MTR |
NC_000001.10:g.236989069G>C |
isolated CHD: CHD |
|
V3711
|
Small Variation |
MTR |
NC_000001.10:g.236989069G>C |
isolated CHD: CHD |
|
V3712
|
Small Variation |
MTR |
NC_000001.10:g.236989069G>C |
isolated CHD: CHD |
|
V3713
|
Small Variation |
MTR |
NC_000001.10:g.236989069G>C |
isolated CHD: CHD |
|
V3714
|
Small Variation |
TBX20 |
NM_001077653.2:c.766T>C |
isolated CHD: ASD\VSD\AVSD |
|
V3715
|
Small Variation |
TBX20 |
NM_001077653.2:c.766T>C |
isolated CHD: ASD\VSD\AVSD |
|
V3716
|
Small Variation |
TBX20 |
NM_001077653.2:c.39T>C |
isolated CHD: ASD\VSD\AVSD |
|
V3717
|
Small Variation |
TBX20 |
NM_001077653.2:c.39T>C |
isolated CHD: ASD\VSD\AVSD |
|
V3718
|
Small Variation |
CITED2 |
NM_006079.5:c.12T>C |
isolated CHD: ASD\VSD\AVSD |
|
V3719
|
Small Variation |
CITED2 |
NM_006079.5:c.9C>T |
isolated CHD: ASD\VSD\AVSD |
|
V3720
|
Small Variation |
BMP2 |
|
isolated CHD: VSD,ASD,TOF,CHD |
|
V3721
|
Small Variation |
BMP2 |
NM_001200.4:仅找到c.570A>T或 NC_000020.11:g.6778468A>T |
isolated CHD: VSD,ASD,TOF,CHD |
|
V3722
|
Small Variation |
BMP4 |
NM_001202.6:c.455T>C |
isolated CHD: VSD,ASD,TOF,CHD |
|
V3723
|
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: TGA ,CoA |
|
V3724
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: TGA ,CoA |
|
V3725
|
Small Variation |
GATA4 |
NM_002052.5:c.-458+170T>G |
isolated CHD: TGA ,CoA |
|
V3726
|
Small Variation |
LAMA3 |
NC_000018.10:g.18:23842434C>T |
isolated CHD: ricuspid valve downward displacement, atrialization of right ventricle |
|
V3727
|
Small Variation |
LAMA3 |
NC_000018.10:g.18:23861742C>T |
isolated CHD: ricuspid valve downward displacement, atrialization of right ventricle |
|
V3728
|
Small Variation |
EDNRA |
NM_001957.4:c.1018C>T |
isolated CHD: TOF |
|
V3729
|
Small Variation |
ABCC3 |
NM_003786.4:c.4231C>T |
isolated CHD: TOF |
|
V3730
|
Small Variation |
GREB1L |
NM_001142966.3:c.4119G>A |
isolated CHD: TOF |
|
V3731
|
Small Variation |
CHD7 |
NM_017780.4:c.4795C>T |
isolated CHD: TOF |
|
V3732
|
Small Variation |
PIK3R4 |
NM_014602.3:c.2254C>T |
isolated CHD: TOF |
|
V3733
|
Small Variation |
COPB2 |
NM_004766.3:c.848C>G |
isolated CHD: TOF |
|
V3734
|
Small Variation |
CHD7 |
NM_017780.4:c.4393C>T |
isolated CHD: TOF |
|
V3735
|
Small Variation |
SLC5A2 |
NM_003041.4:c.515G>A |
isolated CHD: TOF |
|
V3736
|
Small Variation |
TNRC6B |
NM_001162501.2:c.2482C>T |
isolated CHD: TOF |
|
V3737
|
Small Variation |
CHAMP1 |
NM_032436.4:c.688C>T |
isolated CHD: TOF |
|
V3738
|
Small Variation |
MAK16 |
NM_032509.4:c.365G>T |
isolated CHD: TOF |
|
V3739
|
Small Variation |
WASHC5 |
NM_014846.4:c.500T>A |
isolated CHD: TOF |
|
V3740
|
Small Variation |
MED13L |
NM_015335.5:c.6392C>T |
isolated CHD: TOF |
|
V3741
|
Small Variation |
WAC |
NM_016628.5:c.1748C>T |
isolated CHD: TOF |
|
V3742
|
Small Variation |
GTPBP1 |
NM_004286.5:c.871G>A |
isolated CHD: TOF |
|
V3743
|
Small Variation |
ITGA7 |
NM_002206.3:c.1114C>T |
isolated CHD: TOF |
|
V3744
|
Small Variation |
SLC26A4 |
NM_000441.2:c.1003T>G |
isolated CHD: TOF |
|
V3745
|
Small Variation |
STAG2 |
NM_001042750.2:c.3040G>A |
isolated CHD: TOF |
|
V3746
|
Small Variation |
CDH23 |
NM_022124.6:c.3406C>T |
isolated CHD: TOF |
|
V3747
|
Small Variation |
CLUH |
NM_001366661.1:c.2584C>T |
isolated CHD: TOF |
|
V3748
|
Small Variation |
COL7A1 |
NM_000094.4:c.8308C>T |
isolated CHD: TOF |
|
V3749
|
Small Variation |
SEPTIN8 |
NM_001098811.2:c.905G>C |
isolated CHD: TOF |
|
V3750
|
Small Variation |
RNF44 |
NM_014901.5:c.1262G>A |
isolated CHD: TOF |
|
V3751
|
Small Variation |
ANGPTL5 |
NM_178127.5:c.647T>C |
isolated CHD: TOF |
|
V3752
|
Small Variation |
PLPP1 |
NM_003711.4:c.650G>A |
isolated CHD: TOF |
|
V3753
|
Small Variation |
STK38L |
NM_015000.4:c.865T>G |
isolated CHD: TOF |
|
V3754
|
Small Variation |
UBE2B |
NM_003337.4:c.23G>C |
isolated CHD: TOF |
|
V3755
|
Small Variation |
HLTF |
NM_003071.4:c.1885G>A |
isolated CHD: TOF |
|
V3756
|
Small Variation |
KIF5A |
NM_004984.4:c.830T>C |
isolated CHD: TOF |
|
V3757
|
Small Variation |
LNX1 |
NM_001126328.3:c.1625C>G |
isolated CHD: TOF |
|
V3758
|
Small Variation |
BRIP1 |
NM_032043.3:c.1195G>A |
isolated CHD: TOF |
|
V3759
|
Small Variation |
IGF2BP2 |
NM_006548.6:c.1568G>A |
isolated CHD: TOF |
|
V3760
|
Small Variation |
ABR |
NM_021962.5:c.2054C>T |
isolated CHD: TOF |
|
V3761
|
Small Variation |
DAPK3 |
NM_001348.3:c.578C>T |
isolated CHD: TOF |
|
V3762
|
Small Variation |
TEK |
NM_000459.5:c.2522C>T |
isolated CHD: TOF |
|
V3763
|
Small Variation |
SEPTIN2 |
NM_004404.5:c.286C>T |
isolated CHD: TOF |
|
V3764
|
Small Variation |
SLC29A1 |
NM_001372327.1:c.946-214574G>A |
isolated CHD: TOF |
|
V3765
|
Small Variation |
RYR1 |
NM_000540.3:c.11825T>C |
isolated CHD: TOF |
|
V3766
|
Small Variation |
TRABD2B |
NM_001194986.2:c.139C>T |
isolated CHD: TOF |
|
V3767
|
Small Variation |
CPSF1 |
NM_013291.3:c.87C>G |
isolated CHD: TOF |
|
V3768
|
Small Variation |
PRKCH |
NM_006255.5:c.632A>G |
isolated CHD: TOF |
|
V3769
|
Small Variation |
ATP6V1B2 |
NM_001693.4:c.744T>G |
isolated CHD: TOF |
|
V3770
|
Small Variation |
PES1 |
NM_014303.4:c.1225C>A |
isolated CHD: TOF |
|
V3771
|
Small Variation |
CLUH |
NM_001366661.1:c.872C>T |
isolated CHD: TOF |
|
V3772
|
Small Variation |
CCR4 |
NM_005508.5:c.898A>C |
isolated CHD: TOF |
|
V3773
|
Small Variation |
ATRNL1 |
NM_207303.4:c.1315G>C |
isolated CHD: TOF |
|
V3774
|
Small Variation |
NBAS |
NM_015909.4:c.4295T>C |
isolated CHD: TOF |
|
V3775
|
Small Variation |
SHTN1 |
NM_001127211.3:c.691G>A |
isolated CHD: TOF |
|
V3776
|
Small Variation |
GABRG3 |
NM_033223.5:c.539T>C |
isolated CHD: TOF |
|
V3777
|
Small Variation |
IARS1 |
NM_002161.6:c.998A>G |
isolated CHD: TOF |
|
V3778
|
Small Variation |
SESTD1 |
NM_178123.5:c.71G>A |
isolated CHD: TOF |
|
V3779
|
Small Variation |
C12orf56 |
NM_001170633.2:c.1268C>G |
isolated CHD: TOF |
|
V3780
|
Small Variation |
CHD4 |
NM_001273.5:c.606G>A |
isolated CHD: TOF |
|
V3781
|
Small Variation |
NALCN |
NM_052867.4:c.1114C>T |
isolated CHD: TOF |
|
V3782
|
Small Variation |
CHIC1 |
NM_001039840.4:c.386G>A |
isolated CHD: TOF |
|
V3783
|
Small Variation |
NGFR |
NM_002507.4:c.802G>A |
isolated CHD: TOF |
|
V3784
|
Small Variation |
BCL2L11 |
NM_138621.5:c.355C>T |
isolated CHD: TOF |
|
V3785
|
Small Variation |
DSG2 |
NM_001943.5:c.1496T>A |
isolated CHD: TOF |
|
V3786
|
Small Variation |
SNAI1 |
NM_005985.4:c.16C>A |
isolated CHD: TOF |
|
V3787
|
Small Variation |
PUS7L |
NM_031292.5:c.950C>T |
isolated CHD: TOF |
|
V3788
|
Small Variation |
NFATC2 |
NM_012340.5:c.1751A>C |
isolated CHD: TOF |
|
V3789
|
Small Variation |
SERAC1 |
NM_032861.4:c.1009C>T |
isolated CHD: TOF |
|
V3790
|
Small Variation |
SLIT3 |
NM_003062.4:c.3016G>A |
isolated CHD: TOF |
|
V3791
|
Small Variation |
MYOM2 |
NM_003970.4:c.2201C>T |
isolated CHD: TOF |
|
V3792
|
Small Variation |
CFAP44 |
NM_001164496.2:c.1438C>T |
isolated CHD: TOF |
|
V3793
|
Small Variation |
ATP4B |
NM_000705.4:c.548T>C |
isolated CHD: TOF |
|
V3794
|
Small Variation |
ADAMTS17 |
NM_139057.4:c.1628A>G |
isolated CHD: TOF |
|
V3795
|
Small Variation |
FERMT2 |
NM_006832.3:c.920T>C |
isolated CHD: TOF |
|
V3796
|
Small Variation |
RASA1 |
NM_002890.3:c.1211C>T |
isolated CHD: TOF |
|
V3797
|
Small Variation |
TECPR2 |
NM_014844.5:c.3730C>G |
isolated CHD: TOF |
|
V3798
|
Small Variation |
MAPK8IP3 |
NM_001318852.2:c.2576C>G |
isolated CHD: TOF |
|
V3799
|
Small Variation |
LVRN |
NM_173800.5:c.1678C>T |
isolated CHD: TOF |
|
V3800
|
Small Variation |
C1orf94 |
NM_001134734.2:c.1235G>A |
isolated CHD: TOF |
|
V3801
|
Small Variation |
MLF1 |
NM_001369783.1:c.567G>C |
isolated CHD: TOF |
|
V3802
|
Small Variation |
TM2D2 |
NM_078473.3:c.349A>G |
isolated CHD: TOF |
|
V3803
|
Small Variation |
ATP2A1 |
NM_004320.6:c.3070C>T |
isolated CHD: TOF |
|
V3804
|
Small Variation |
JAG1 |
NM_000214.3:c.627C>G |
isolated CHD: TOF |
|
V3805
|
Small Variation |
ANXA6 |
NM_001155.5:c.809G>A |
isolated CHD: TOF |
|
V3806
|
Small Variation |
GAN |
NM_022041.4:c.1700G>T |
isolated CHD: TOF |
|
V3807
|
Small Variation |
ACSL1 |
NM_001995.5:c.137C>T |
isolated CHD: TOF |
|
V3808
|
Small Variation |
RCC1 |
NM_001381865.2:c.1153G>A |
isolated CHD: TOF |
|
V3809
|
Small Variation |
BMS1 |
NM_014753.4:c.2299A>G |
isolated CHD: TOF |
|
V3810
|
Small Variation |
DCLK1 |
NM_001330071.2:c.1566C>A |
isolated CHD: TOF |
|
V3811
|
Small Variation |
ABLIM3 |
NM_014945.5:c.1232A>G |
isolated CHD: TOF |
|
V3812
|
Small Variation |
FLI1 |
NM_002017.5:c.2261G>A |
isolated CHD: TOF |
|
V3813
|
Small Variation |
UNC13C |
NM_001080534.3:c.3545G>A |
isolated CHD: TOF |
|
V3814
|
Small Variation |
FBN2 |
NM_001999.4:c.6571G>A |
isolated CHD: TOF |
|
V3815
|
Small Variation |
ALDH3A2 |
NM_000382.3:c.1426G>C |
isolated CHD: TOF |
|
V3816
|
Small Variation |
USF3 |
NM_001009899.4:c.3503C>T |
isolated CHD: TOF |
|
V3817
|
Small Variation |
FRZB |
NM_001463.4:c.502G>A |
isolated CHD: TOF |
|
V3818
|
Small Variation |
ADSL |
NM_000026.4:c.167C>G |
isolated CHD: TOF |
|
V3819
|
Small Variation |
ITPR3 |
NM_002224.4:c.3080G>A |
isolated CHD: TOF |
|
V3820
|
Small Variation |
AFF2 |
NM_002025.4:c.2051C>G |
isolated CHD: TOF |
|
V3821
|
Small Variation |
WDR5 |
NM_017588.3:c.19A>C |
isolated CHD: TOF |
|
V3822
|
Small Variation |
COPG1 |
NM_016128.4:c.1273A>G |
isolated CHD: TOF |
|
V3823
|
Small Variation |
SMARCA1 |
NM_001282874.2:c.2101G>A |
isolated CHD: TOF |
|
V3824
|
Small Variation |
CTDSPL2 |
NM_016396.3:c.449A>G |
isolated CHD: TOF |
|
V3825
|
Small Variation |
DMBX1 |
NM_172225.2:c.418G>C |
isolated CHD: TOF |
|
V3826
|
Small Variation |
DNAH8 |
NM_001206927.2:c.13938A>T |
isolated CHD: TOF |
|
V3827
|
Small Variation |
KCNH3 |
NM_012284.3:c.2577G>C |
isolated CHD: TOF |
|
V3828
|
Small Variation |
CUX2 |
NM_015267.4:c.1279G>A |
isolated CHD: TOF |
|
V3829
|
Small Variation |
WASHC5 |
NM_014846.4:c.1942G>A |
isolated CHD: TOF |
|
V3830
|
Small Variation |
RELCH |
NM_001346231.2:c.1246T>C |
isolated CHD: TOF |
|
V3831
|
Small Variation |
EYS |
NM_001142800.2:c.2545C>T |
isolated CHD: TOF |
|
V3832
|
Small Variation |
SOX17 |
NM_022454.4:c.244G>T |
isolated CHD: APAH-CTD,Left isomerism, inferior vena cava draining through hemiazygos vein to coronary sinus and right atrium ASD |
|
V3833
|
Small Variation |
SOX17 |
NM_022454.4:c.499_520del |
isolated CHD: APAH-CTD,Left isomerism, inferior vena cava draining through hemiazygos vein to coronary sinus and right atrium ASD |
|
V3834
|
Small Variation |
GJB2 |
NM_004004.6:c.299_300del |
isolated CHD: TOF |
|
V3835
|
Small Variation |
CTNS |
NM_004937.3:c.611_613del |
isolated CHD: TOF |
|
V3836
|
Small Variation |
SPINK1 |
NM_001354966.1:c.194+2T>C |
isolated CHD: TOF |
|
V3837
|
Small Variation |
GATA6 |
NM_005257.6:c.151G>A |
isolated CHD: TOF |
|
V3838
|
Small Variation |
SLC17A9 |
NM_001302643.2:c.-56C>T |
isolated CHD: TOF |
|
V3839
|
Small Variation |
AIFM1 |
NM_001130846.3:c.13C>T |
isolated CHD: TOF |
|
V3840
|
Small Variation |
KLF13 |
NM_015995.4:c.319T>A |
isolated CHD: TOF |
|
V3841
|
Small Variation |
PRIMOL1 |
NM_001300767.2:c.-123T>G |
isolated CHD: TOF |
|
V3842
|
Small Variation |
CPA6 |
NM_020361.5:c.544C>T |
isolated CHD: TOF |
|
V3843
|
Small Variation |
FKBP10 |
NM_021939.3:c.831dup |
isolated CHD: TOF |
|
V3844
|
Small Variation |
ASPA |
NM_000049.4:c.79G>A |
isolated CHD: TOF |
|
V3845
|
Small Variation |
HBA2 |
NM_000517.6:c.427T>C |
isolated CHD: TOF |
|
V3846
|
Small Variation |
GNE |
NM_005476.7:c.527A>T |
isolated CHD: TOF |
|
V3847
|
Small Variation |
KLHL10 |
NM_001329596.2:c.673G>A |
isolated CHD: TOF |
|
V3848
|
Small Variation |
TGFBR1 |
NM_004612.4:c.1192C>T |
isolated CHD: ASD/TOF/PLSVC |
|
V3849
|
Small Variation |
TGFBR1 |
NM_004612.4:c.1193G>A |
isolated CHD: ASD/TOF/PLSVC |
|
V3850
|
Small Variation |
TGFBR1 |
NM_004612.4:c.1193G>A |
isolated CHD: ASD/TOF/PLSVC |
|
V3851
|
Small Variation |
CITED2 |
NC_000006.12:g.3949C>T |
isolated CHD: PDA |
|
V3852
|
Small Variation |
CITED2 |
NC_000006.12:g4461T>C |
isolated CHD: PDA |
|
V3853
|
Small Variation |
CITED2 |
NC_000006.12:g.4735T>C |
isolated CHD: PDA |
|
V3854
|
Small Variation |
CITED2 |
NC_000006.12:g.5059G>A |
isolated CHD: PDA |
|
V3855
|
Small Variation |
CITED2 |
NC_000006.12:g.4047_4048ins |
isolated CHD: PDA |
|
V3856
|
Small Variation |
CITED2 |
NC_000006.12:g.4330_4331ins |
isolated CHD: PDA |
|
V3857
|
Small Variation |
CITED2 |
NC_000006.12:g.4808_4815del |
isolated CHD: PDA |
|
V3858
|
Small Variation |
CITED2 |
NC_000006.12:g.4935C>T |
isolated CHD: PDA |
|
V3859
|
Small Variation |
CITED2 |
NC_000006.12:g.5108C>T |
isolated CHD: PDA |
|
V3860
|
Small Variation |
CITED2 |
NC_000006.12:g.5027C>T |
isolated CHD: PDA |
|
V3861
|
Small Variation |
CITED2 |
NC_000006.12:g.4285T>G |
isolated CHD: PDA |
|
V3862
|
Small Variation |
CITED2 |
NC_000006.12:g.4357G>A |
isolated CHD: PDA |
|
V3863
|
Small Variation |
CITED2 |
NC_000006.12:g.5122C>A |
isolated CHD: PDA |
|
V3864
|
Small Variation |
HAND2 |
NC_000004.12:g.173531173A>G |
isolated CHD: VSD |
|
V3865
|
Small Variation |
HAND2 |
NC_000004.12:g.173530852A>G |
isolated CHD: VSD |
|
V3866
|
Small Variation |
HAND2 |
NC_000004.12:g.173531213C>G |
isolated CHD: VSD |
|
V3867
|
Small Variation |
HAND2 |
NC_000004.12:g.173531217C>G |
isolated CHD: VSD |
|
V3868
|
Small Variation |
HAND2 |
NC_000004.12:g.173531210T>C |
isolated CHD: VSD |
|
V3869
|
Small Variation |
HAND2 |
NC_000004.12:g.173530652G>A |
isolated CHD: VSD |
|
V3870
|
Small Variation |
HAND2 |
NC_000004.12:g.173530848G>T |
isolated CHD: VSD |
|
V3871
|
Small Variation |
HAND2 |
NC_000004.12:g.173530848G>T |
isolated CHD: VSD |
|
V3872
|
Small Variation |
HAND2 |
NC_000004.12:g.173530848G>T |
isolated CHD: VSD |
|
V3873
|
Small Variation |
HAND2 |
NC_000004.12:g.173530503G>A |
isolated CHD: VSD |
|
V3874
|
Small Variation |
HAND2 |
NC_000004.12:g.173530503G>A |
isolated CHD: VSD |
|
V3875
|
Small Variation |
HAND2 |
NC_000004.12:g.173530503G>A |
isolated CHD: VSD |
|
V3876
|
Small Variation |
HAND2 |
NC_000004.12:g.173530392G>T |
isolated CHD: VSD |
|
V3877
|
Small Variation |
MYH6 |
NC_000014.9:g.3384G>T |
isolated CHD: TOF |
|
V3878
|
Small Variation |
MYH6 |
NC_000014.9:g.3655G>C |
isolated CHD: TOF |
|
V3879
|
Small Variation |
MYH6 |
NC_000014.9:g.4031C>T |
isolated CHD: TOF |
|
V3880
|
Small Variation |
MYH6 |
NC_000014.9:g.4377T>C |
isolated CHD: TOF |
|
V3881
|
Small Variation |
MYH6 |
NC_000014.9:g.4518T>C |
isolated CHD: TOF |
|
V3882
|
Small Variation |
MYH6 |
NC_000014.9:g.3285A>G |
isolated CHD: TOF |
|
V3883
|
Small Variation |
MYH6 |
NC_000014.9:g.3557G>T |
isolated CHD: TOF |
|
V3884
|
Small Variation |
MYH6 |
NC_000014.9:g.3726A>G |
isolated CHD: TOF |
|
V3885
|
Small Variation |
MYH6 |
NC_000014.9:g.3816C>A |
isolated CHD: TOF |
|
V3886
|
Small Variation |
MYH6 |
NC_000014.9:g.3931del |
isolated CHD: TOF |
|
V3887
|
Small Variation |
MYH6 |
NC_000014.9:g.4208A>G |
isolated CHD: TOF |
|
V3888
|
Small Variation |
MYH6 |
NC_000014.9:g.4387T>C |
isolated CHD: TOF |
|
V3889
|
Small Variation |
ARID3A |
NM_005224.3:c.435_437del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3890
|
Small Variation |
ARID3A |
NM_005224.3:c.1415G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3891
|
Small Variation |
ARID3A |
NM_005224.3:c.1194G>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3892
|
Small Variation |
ARID3A |
NM_005224.3:c.209C>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3893
|
Small Variation |
BMP2K |
NM_198892.2:c.60_68dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3894
|
Small Variation |
BMP2K |
NM_198892.2:c.292A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3895
|
Small Variation |
BMP2K |
NM_198892.2:c.826G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3896
|
Small Variation |
CASC4 |
NM_138423.4:c.551_553del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3897
|
Small Variation |
CASC4 |
NM_138423.4:c.339G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3898
|
Small Variation |
COPS6 |
NM_006833.5:c.21_23dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3899
|
Small Variation |
COPS6 |
NM_006833.5:c.18_23dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3900
|
Small Variation |
COPS6 |
NM_006833.5:c.23C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3901
|
Small Variation |
DMKN |
NM_033317.5:c.1360-1G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3902
|
Small Variation |
DMKN |
NM_033317.5:c.809_810ins |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3903
|
Small Variation |
DMKN |
NM_033317.5:c.532G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3904
|
Small Variation |
DMKN |
NM_033317.5:c.496G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3905
|
Small Variation |
FAM43B |
NM_207334.3:c.802_804del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3906
|
Small Variation |
FAM43B |
NM_207334.3:c.356T>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3907
|
Small Variation |
FAM43B |
NM_207334.3:c.470G>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3908
|
Small Variation |
FAM43B |
NM_207334.3:c.10T>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3909
|
Small Variation |
FAM43B |
NM_207334.3:c.802_804dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3910
|
Small Variation |
FOXD3 |
NM_012183.3:c.412A>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3911
|
Small Variation |
FOXD3 |
NM_012183.3:c.803C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3912
|
Small Variation |
FOXD3 |
NM_012183.3:c.802G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3913
|
Small Variation |
FOXD3 |
NM_012183.3:c.737G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3914
|
Small Variation |
GATA5 |
NM_080473:c.40G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3915
|
Small Variation |
GATA6 |
NM_005257.6:c.996_998del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3916
|
Small Variation |
GATA6 |
NM_005257.6:c.43G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3917
|
Small Variation |
HAS1 |
NM_001297436.2:c.397G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3918
|
Small Variation |
INSM2 |
NM_032594.4:c.584C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3919
|
Small Variation |
KRT86 |
NM_001320198.2:c.416A>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3920
|
Small Variation |
KRT86 |
NM_001320198.2:c.1280G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3921
|
Small Variation |
LHX2 |
NM_004789.4:c.92C>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3922
|
Small Variation |
LRRC10B |
NM_001145077.2:c.106C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3923
|
Small Variation |
MAFG |
NM_002359.4:c.392G>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3924
|
Small Variation |
MFHAS1 |
NM_004225.3:c.118_129del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3925
|
Small Variation |
MFHAS1 |
NM_004225.3:c.317T>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3926
|
Small Variation |
MYO6 |
NM_004999.4:c.2751dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3927
|
Small Variation |
MYO6 |
NM_004999.4:c.992A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3928
|
Small Variation |
NANP |
NM_152667.3:c.26T>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3929
|
Small Variation |
PIP4K2B |
NM_003559.5:c.38T>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3930
|
Small Variation |
POU6F2 |
NM_001370959.1:c.559_561del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3931
|
Small Variation |
POU6F2 |
NM_001370959.1:c.559_561dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3932
|
Small Variation |
POU6F2 |
NM_001370959.1:c.1163T>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3933
|
Small Variation |
PRDM13 |
NM_021620.4:c.1114_1116del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3934
|
Small Variation |
PRDM13 |
NM_021620.4:c.1114_1116dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3935
|
Small Variation |
PTH2R |
NM_005048.4:c.1043A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3936
|
Small Variation |
PTH2R |
NM_005048.4:c.766G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3937
|
Small Variation |
PTH2R |
NM_005048.4:c.484G>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3938
|
Small Variation |
PWWP2A |
NM_001130864.2:c.2174A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3939
|
Small Variation |
RIMS4 |
NM_182970.4:c.5A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3940
|
Small Variation |
SRRT |
NM_015908.6:c.823_825del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3941
|
Small Variation |
SRRT |
NM_015908.6:c.497C>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3942
|
Small Variation |
TM9SF3 |
NM_020123.4:c.68_70dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3943
|
Small Variation |
TM9SF3 |
NM_020123.4:c.1609T>C |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3944
|
Small Variation |
TRERF1 |
NM_001395490.1:c.2500T>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3945
|
Small Variation |
TRERF1 |
NM_001395490.1:c.2901_2903del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3946
|
Small Variation |
TRERF1 |
NM_001395490.1:c.293G>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3947
|
Small Variation |
TRERF1 |
NM_001395490.1:c.2826_2831dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3948
|
Small Variation |
TRERF1 |
NM_001395490.1:c.166C>A |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3949
|
Small Variation |
USP8 |
NM_005154.5:c.1607A>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3950
|
Small Variation |
VEGFA |
NM_003376.6:c.83C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3951
|
Small Variation |
VEGFA |
NM_003376.6:c.329G>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3952
|
Small Variation |
ZC3H3 |
NM_015117.3:c.2637_2639del |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3953
|
Small Variation |
ZC3H3 |
NM_015117.3:c.2637_2639dup |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3954
|
Small Variation |
ZC3H3 |
NM_015117.3:c.1123A>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3955
|
Small Variation |
ZC3H3 |
NM_015117.3:c.2347C>T |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3956
|
Small Variation |
ZCCHC3 |
NM_033089.7:c.92C>G |
isolated CHD: BAV/AS/CoA/VSD/ASD/PDA/MA |
|
V3957
|
Small Variation |
GATA4 |
NM_002052.5:c.708T>G |
isolated CHD: TOF |
|
V3958
|
Small Variation |
GATA4 |
NM_002052.5:N/A |
isolated CHD: TOF |
|
V3959
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3960
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3961
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3962
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3963
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3964
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: ASD |
|
V3965
|
Small Variation |
AMER1 |
NM_152424.4:c.3245A>G |
isolated CHD: arterial ductus arteriosus |
|
V3966
|
Small Variation |
AMER1 |
NM_152424.4:c.3245A>G |
isolated CHD: arterial ductus arteriosus |
|
V3967
|
Small Variation |
AMER1 |
NM_152424.4:c.3245A>G |
isolated CHD: arterial ductus arteriosus |
|
V3968
|
Small Variation |
BMP10 |
NM_014482.3:c.247G>T |
isolated CHD: PDA |
|
V3969
|
Small Variation |
BMP10 |
NM_014482.3:c.247G>T |
isolated CHD: PDA |
|
V3970
|
Small Variation |
BMP10 |
NM_014482.3:c.247G>T |
isolated CHD: PDA |
|
V3971
|
Small Variation |
BMP10 |
NM_014482.3:c.247G>T |
isolated CHD: PDA |
|
V3972
|
Small Variation |
BMP10 |
NM_014482.3:c.247G>T |
isolated CHD: PDA |
|
V3973
|
Small Variation |
MYH6 |
NM_002471.3:g.3545G>T |
isolated CHD: PDA |
|
V3974
|
Small Variation |
MYH6 |
NM_002471.3:g.4377T>C |
isolated CHD: PDA |
|
V3975
|
Small Variation |
MYH6 |
NM_002471.3:g.4420A>G |
isolated CHD: PDA |
|
V3976
|
Small Variation |
MYH6 |
NM_002471.3:g.4712C>T |
isolated CHD: PDA |
|
V3977
|
Small Variation |
MYH6 |
NM_002471.3:g.3285A>G |
isolated CHD: PDA |
|
V3978
|
Small Variation |
MYH6 |
NM_002471.3:g.3557G>T |
isolated CHD: PDA |
|
V3979
|
Small Variation |
MYH6 |
NM_002471.3:g.3726A>G |
isolated CHD: PDA |
|
V3980
|
Small Variation |
MYH6 |
NM_002471.3:g.3816C>A |
isolated CHD: PDA |
|
V3981
|
Small Variation |
MYH6 |
NM_002471.3:g.3931del |
isolated CHD: PDA |
|
V3982
|
Small Variation |
MYH6 |
NM_002471.3:g.4208A>G |
isolated CHD: PDA |
|
V3983
|
Small Variation |
MYH6 |
NM_002471.3:g.4387T>C |
isolated CHD: PDA |
|
V3984
|
Small Variation |
HAND1 |
NM_004821.3:c.445G>A |
isolated CHD: CHD |
|
V3985
|
Small Variation |
HAND1 |
NM_004821.3:c.429C>T |
isolated CHD: CHD |
|
V3986
|
Small Variation |
HAND1 |
NM_004821.3:c.424T>C |
isolated CHD: CHD |
|
V3987
|
Small Variation |
HAND1 |
NM_004821.3:c.436C>A |
isolated CHD: CHD |
|
V3988
|
Small Variation |
HAND1 |
NM_004821.3:c.*461T>G |
isolated CHD: CHD |
|
V3989
|
Small Variation |
HAND1 |
NM_004821.3:c.*342G>A |
isolated CHD: CHD |
|
V3990
|
Small Variation |
HAND1 |
NM_004821.3:c.*529T>G |
isolated CHD: CHD |
|
V3991
|
Small Variation |
HAND1 |
NM_004821.3:c.*448A>T |
isolated CHD: CHD |
|
V3992
|
Small Variation |
HAND1 |
NM_004821.3:c.*593C>G |
isolated CHD: CHD |
|
V3993
|
Small Variation |
FOXC1 |
NM_001453.3:c.151G>A |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3994
|
Small Variation |
FOXC1 |
NM_001453.3:c.548_550del |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3995
|
Small Variation |
FOXC1 |
NM_001453.3:c.1195G>A |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3996
|
Small Variation |
FOXC1 |
NM_001453.3:c.1496G>T |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3997
|
Small Variation |
FOXC1 |
NM_001453.3:c.1496G>T |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3998
|
Small Variation |
FOXC2 |
NM_001453.3:c.695G>A |
isolated CHD: TGA/ASD/VSD/PDA |
|
V3999
|
Small Variation |
FOXC2 |
NM_001453.3:c.695G>A |
isolated CHD: TGA/ASD/VSD/PDA |
|
V4000
|
Small Variation |
FOXC2 |
NM_001453.3:c.988C>T |
isolated CHD: TGA/ASD/VSD/PDA |
|
V4001
|
Small Variation |
FOXC2 |
NM_001453.3:c.1180_1181ins |
isolated CHD: TGA/ASD/VSD/PDA |
|
V4002
|
Small Variation |
FLT4 |
NC_000005.10:g.180628862T>G |
isolated CHD: ASD |
|
V4003
|
Small Variation |
FLT4 |
NC_000005.10:g.180628862T>G |
isolated CHD: ASD |
|
V4004
|
Small Variation |
FLT4 |
NC_000005.10:g.180628862T>G |
isolated CHD: ASD |
|
V4005
|
Small Variation |
HYDIN |
NC_000016.10:g.70959602A>G |
isolated CHD: ASD |
|
V4006
|
Small Variation |
HYDIN |
NC_000016.10:g.70959602A>G |
isolated CHD: ASD |
|
V4007
|
Small Variation |
HYDIN |
NC_000016.10:g.70959602A>G |
isolated CHD: ASD |
|
V4008
|
Small Variation |
HYDIN |
NC_000016.10:g.70959663A>G |
isolated CHD: ASD |
|
V4009
|
Small Variation |
HYDIN |
NC_000016.10:g.70959663A>G |
isolated CHD: ASD |
|
V4010
|
Small Variation |
HYDIN |
NC_000016.10:g.70959663A>G |
isolated CHD: ASD |
|
V4011
|
Small Variation |
NKAP |
NM_024528.4:c.988C>T |
isolated CHD: VSD,PS,
OA |
|
V4012
|
Small Variation |
NKAP |
NM_024528.4:c.988C>T |
isolated CHD: VSD,PS,
OA |
|
V4013
|
Small Variation |
BMP4 |
NM_001202.6:c.318T>G |
isolated CHD: DORV,VSD |
|
V4014
|
Small Variation |
BMP4 |
NM_001202.6:c.318T>G |
isolated CHD: DORV,VSD |
|
V4015
|
Small Variation |
BMP4 |
NM_001202.6:c.318T>G |
isolated CHD: DORV,VSD |
|
V4016
|
Small Variation |
BMP4 |
NM_001202.6:c.318T>G |
isolated CHD: DORV,VSD |
|
V4017
|
Small Variation |
BMP4 |
NM_001202.6:c.318T>G |
isolated CHD: DORV,VSD |
|
V4018
|
Small Variation |
GDF1 |
NM_001492.6:c.836T>C |
isolated CHD: Partial atrioventricular canal defect,AC |
|
V4019
|
Small Variation |
NOTCH1 |
NM_017617.2:c.3652T>C |
isolated CHD: Partial atrioventricular canal defect,AC |
|
V4020
|
Small Variation |
SOD2 |
NC_000006.12:g.159711790T>C |
isolated CHD: CHD |
|
V4021
|
Small Variation |
SOD2 |
NC_000006.12:g.159711790T>C |
isolated CHD: CHD |
|
V4022
|
Small Variation |
SOD2 |
NC_000006.12:g.159711790T>C |
isolated CHD: CHD |
|
V4023
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4024
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4025
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4026
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4027
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4028
|
Small Variation |
POU5F1 |
NM_002701.6:c.405+156T>A |
isolated CHD: CHD |
|
V4029
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4030
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4031
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4032
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4033
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4034
|
Small Variation |
FANCE |
NM_021922.3:c.387A>C |
isolated CHD: CHD |
|
V4035
|
Small Variation |
FLT4 |
|
isolated CHD: VSD |
|
V4036
|
Small Variation |
FLT4 |
|
isolated CHD: VSD |
|
V4037
|
Small Variation |
FLT4 |
|
isolated CHD: VSD |
|
V4038
|
Small Variation |
FLT4 |
|
isolated CHD: VSD |
|
V4039
|
Small Variation |
HAND1 |
NC_000005.10:g.3592C>A |
isolated CHD: VSD |
|
V4040
|
Small Variation |
HAND1 |
NC_000005.10:g.3631A>C |
isolated CHD: VSD |
|
V4041
|
Small Variation |
HAND1 |
NC_000005.10:g.3658T>C |
isolated CHD: VSD |
|
V4042
|
Small Variation |
HAND1 |
NC_000005.10:g.3754T>C |
isolated CHD: VSD |
|
V4043
|
Small Variation |
HAND1 |
NC_000005.10:g.3871G>A |
isolated CHD: VSD |
|
V4044
|
Small Variation |
HAND1 |
NC_000005.10:g.3970C>T |
isolated CHD: VSD |
|
V4045
|
Small Variation |
HAND1 |
NC_000005.10:g.4656C>G |
isolated CHD: VSD |
|
V4046
|
Small Variation |
HAND1 |
NC_000005.10:g.4825C>A |
isolated CHD: VSD |
|
V4047
|
Small Variation |
HAND1 |
NC_000005.10:g.5056T>C |
isolated CHD: VSD |
|
V4048
|
Small Variation |
GATA4 |
NM_002052.5:c.551T>C |
isolated CHD: VSD |
|
V4049
|
Small Variation |
CITED2 |
NC_000006.12:g.139373571T>C |
isolated CHD: CHD |
|
V4050
|
Small Variation |
MYH7 |
NM_000257.4:c.1610A>C |
isolated CHD: BiVNC,PDA |
|
V4051
|
Small Variation |
ACTC1 |
NM_005159.5:c.293T>C |
isolated CHD: BiVNC,PDA |
|
V4052
|
Small Variation |
TPM1 |
NM_001018005.2:c.713G>A |
isolated CHD: BiVNC,PDA |
|
V4053
|
Small Variation |
CACNA1C |
NM_000719.7:c.4106C>A |
isolated CHD: BiVNC,PDA |
|
V4054
|
Small Variation |
TAZ |
NM_000116.4:c.646G>A |
isolated CHD: BiVNC,PDA |
|
V4055
|
Small Variation |
TAZ |
NM_000116.4:c.646G>A |
isolated CHD: BiVNC,PDA |
|
V4056
|
Small Variation |
MYH7 |
NM_000257.4:c.1090T>C |
isolated CHD: BiVNC,PDA |
|
V4057
|
Small Variation |
HAND1 |
NC_000005.10:g.3639G>T |
isolated CHD: TOF |
|
V4058
|
Small Variation |
HAND1 |
NC_000005.10:g.3754T>C |
isolated CHD: TOF |
|
V4059
|
Small Variation |
HAND1 |
NC_000005.10:g.3901G>A |
isolated CHD: TOF |
|
V4060
|
Small Variation |
HAND1 |
NC_000005.10:g.387G>A |
isolated CHD: TOF |
|
V4061
|
Small Variation |
HAND1 |
NC_000005.10:g.3970C>T |
isolated CHD: TOF |
|
V4062
|
Small Variation |
HAND1 |
NC_000005.10:g.4656C>G |
isolated CHD: TOF |
|
V4063
|
Small Variation |
HAND1 |
NC_000005.10:g.4825C>A |
isolated CHD: TOF |
|
V4064
|
Small Variation |
HAND1 |
NC_000005.10:g.5056T>C |
isolated CHD: TOF |
|
V4065
|
Small Variation |
PLD1 |
NM_002662.5:c.1937G>C |
isolated CHD: PS, PR, TVD |
|
V4066
|
Small Variation |
SMAD5 |
NM_005903.7:c.277T>A |
isolated CHD: CHD-APAH,VSD |
|
V4067
|
Small Variation |
TBX20 |
NM_001077653.2:c.361A>T |
isolated CHD: TAPVC,ASD |
|
V4068
|
Small Variation |
TBX20 |
NM_001077653.2:c.786G>C |
isolated CHD: TAPVC,ASD |
|
V4069
|
Small Variation |
FLT4 |
NM_182925.5:c.985+1G>A |
isolated CHD: TOF,PA,major aortopulmonary collateral arteries |
|
V4070
|
Small Variation |
FLT4 |
NM_182925.5:c.1657+6T>C |
isolated CHD: TOF,PA,major aortopulmonary collateral arteries |
|
V4071
|
Small Variation |
EFCAB7 |
NM_032437.4:c.683-1G>C |
isolated CHD: TOF |
|
V4072
|
Small Variation |
NR2F2 |
NM_021005.4:c.476C>G |
isolated CHD: VSD\ASD\TOF |
|
V4073
|
Small Variation |
NR2F2 |
NM_021005.4:c.986C>T |
isolated CHD: VSD\ASD\TOF |
|
V4074
|
Small Variation |
NR2F2 |
NM_021005.4:c.1013A>C |
isolated CHD: VSD\ASD\TOF |
|
V4075
|
Small Variation |
NR2F2 |
NM_021005.4:c.1043A>C |
isolated CHD: VSD\ASD\TOF |
|
V4076
|
Small Variation |
NR2F2 |
NM_021005.4:c.1083A>T |
isolated CHD: VSD\ASD\TOF |
|
V4077
|
Small Variation |
MST1R |
NM_002447.4:c.2009T>G |
isolated CHD: TOF |
|
V4078
|
Small Variation |
MST1R |
NM_002447.4:c.2009T>G |
isolated CHD: TOF |
|
V4079
|
Small Variation |
MST1R |
NM_002447.4:c.6G>T |
isolated CHD: TOF |
|
V4080
|
Small Variation |
MST1R |
NM_002447.4:c.745T>C |
isolated CHD: TOF |
|
V4081
|
Small Variation |
MST1R |
NM_002447.4:c.1253C>T |
isolated CHD: TOF |
|
V4082
|
Small Variation |
MST1R |
NM_002447.4:c.1294A>T |
isolated CHD: TOF |
|
V4083
|
Small Variation |
MST1R |
NM_002447.4:c.1319A>G |
isolated CHD: TOF |
|
V4084
|
Small Variation |
MST1R |
NM_002447.4:c.1838A>C |
isolated CHD: TOF |
|
V4085
|
Small Variation |
MST1R |
NM_002447.4:c.2168A>G |
isolated CHD: TOF |
|
V4086
|
Small Variation |
MST1R |
NM_002447.4:c.2759del |
isolated CHD: TOF |
|
V4087
|
Small Variation |
MST1R |
NM_002447.4:c.4105C>A |
isolated CHD: TOF |
|
V4088
|
Small Variation |
TBX20 |
NM_001077653.2:c.656T>G |
isolated CHD: BAV，AVS,ASD |
|
V4089
|
Small Variation |
GATA5 |
NM_080473.4:c.710G>C |
isolated CHD: PVS |
|
V4090
|
Small Variation |
GATA6 |
NM_005257.6:c.1757C>T |
isolated CHD: PVS |
|
V4091
|
Small Variation |
SMAD6 |
NM_005585.5:c.592dup |
isolated CHD: CHD-APAH(Agenes is of right pulmonary artery, BAV, ascending
aortic aneurysm) |
|
V4092
|
Small Variation |
SMAD6 |
NM_005585.5:c.590_602del |
isolated CHD: CHD-APAH(Agenes is of right pulmonary artery, BAV, ascending
aortic aneurysm) |
|
V4093
|
Small Variation |
SMAD6 |
NM_005585.5:c.851C>T |
isolated CHD: CHD-APAH(Agenes is of right pulmonary artery, BAV, ascending
aortic aneurysm) |
|
V4094
|
Small Variation |
SMAD6 |
NM_005585.5:c.1297G>A |
isolated CHD: CHD-APAH(Agenes is of right pulmonary artery, BAV, ascending
aortic aneurysm) |
|
V4095
|
Small Variation |
GGCX |
NM_000821.7:c.137C>T |
isolated CHD: VSD |
|
V4096
|
Small Variation |
ACVRL1 |
NM_000020.3:c.140G>A |
isolated CHD: VSD |
|
V4097
|
Small Variation |
ATP13A3 |
NM_001367549.1:c.3298C>A |
isolated CHD: VSD |
|
V4098
|
Small Variation |
BMPR2 |
NM_001204.7:c.440G>A |
isolated CHD: VSD |
|
V4099
|
Small Variation |
SMAD9 |
NM_001127217.3:c.602C>T |
isolated CHD: VSD |
|
V4100
|
Small Variation |
KDR |
NM_002253.3:c.2270C>G |
isolated CHD: VSD |
|
V4101
|
Small Variation |
KDR |
NM_002253.3:c.1413-3T>C |
isolated CHD: VSD |
|
V4102
|
Small Variation |
TET2 |
NM_001127208.3:c.5978G>A |
isolated CHD: VSD |
|
V4103
|
Small Variation |
BMPR2 |
NM_001204.7:c.2789C>G |
isolated CHD: VSD |
|
V4104
|
Small Variation |
EIF2AK4 |
NM_001013703.4:c.4669C>T |
isolated CHD: VSD |
|
V4105
|
Small Variation |
ATP13A3 |
NM_001367549.1:c.793G>A |
isolated CHD: VSD |
|
V4106
|
Small Variation |
ABCC8 |
NM_000352.6:c.2354A>C |
isolated CHD: VSD |
|
V4107
|
Small Variation |
BMPR2 |
NM_001204.7:c.1766A>G |
isolated CHD: VSD |
|
V4108
|
Small Variation |
ENG |
NM_001114753.3:c.321_322delinsTT |
isolated CHD: VSD |
|
V4109
|
Small Variation |
SMAD1 |
NM_005900.3:c.425G>C |
isolated CHD: VSD |
|
V4110
|
Small Variation |
BMPR2 |
NM_001204.7:c.2677C>T |
isolated CHD: VSD |
|
V4111
|
Small Variation |
EIF2AK4 |
NM_001013703.4:c.4115T>C |
isolated CHD: VSD |
|
V4112
|
Small Variation |
FLNA |
NM_001110556.2:c.5191G>A |
isolated CHD: AVD |
|
V4113
|
Small Variation |
FLNA |
NM_001110556.2:c.5191G>A |
isolated CHD: AVD |
|
V4114
|
Small Variation |
ERBB2 |
NM_004448.4:c.1795C>T |
isolated CHD: HLHS( including BAV, HAA, CoA, ASD, LSVC) |
|
V4115
|
Small Variation |
DNAH9 |
NM_001372.3:c.11176C>T |
isolated CHD: dextroversion
of the heart, complete AVSD, subcardiac
total pulmonary venous drainage,PS, arterial
catheter blood supply and C‑type collateral circulation |
|
V4116
|
Small Variation |
GATA4 |
NM_002052.5:c.907G>T |
isolated CHD: perimembranous VSD， mild residual shunt， PS |
|
V4117
|
Small Variation |
CCM2L |
NM_001365692.1:c.741G>A |
isolated CHD: TOF with VSD, OA, PS |
|
V4118
|
Small Variation |
CCM2L |
NM_001365692.1:c.1263+2T>A |
isolated CHD: TOF with VSD, OA, PS |
|
V4119
|
Small Variation |
SMAD5 |
NM_005903.7:c.1202del |
isolated CHD: ASD, VSD |
|
V4120
|
Small Variation |
SMAD5 |
NM_005903.7:c.232G>T |
isolated CHD: ASD, VSD |
|
V4121
|
Small Variation |
SMAD5 |
NM_005903.7:c.1081A>G |
isolated CHD: ASD, VSD |
|
V4122
|
Small Variation |
MMP21 |
NM_147191.1:c.414del |
isolated CHD: levoversion,PTA of type A2, VSD, reverse ductus arteriosus blood perfusion |
|
V4123
|
Small Variation |
MMP21 |
NM_147191.1:c.980-16T>A |
isolated CHD: levoversion,PTA of type A2, VSD, reverse ductus arteriosus blood perfusion |
|
V4124
|
Small Variation |
EVC2 |
NM_147127.5:c.2484G>A |
isolated CHD: AS with
CoArctation of the aortic arch , MVR with reduced mitral valve flow, PFO , an enlarged left atrium , and an enlarged
right ventricle |
|
V4125
|
Small Variation |
EVC2 |
NM_147127.5:c.260A>G |
isolated CHD: AS with
CoArctation of the aortic arch , MVR with reduced mitral valve flow, PFO , an enlarged left atrium , and an enlarged
right ventricle |
|
V4126
|
Small Variation |
EVC2 |
NM_147127.5:c.650C>G |
isolated CHD: AS with
CoArctation of the aortic arch , MVR with reduced mitral valve flow, PFO , an enlarged left atrium , and an enlarged
right ventricle |
|
V4127
|
Small Variation |
ACTC1 |
NC_000015.10:g.4832T>C |
isolated CHD: VSD |
|
V4128
|
Small Variation |
ACTC1 |
NC_000015.10:g.5063A>G |
isolated CHD: VSD |
|
V4129
|
Small Variation |
ACTC1 |
NC_000015.10:g.5163T>A |
isolated CHD: VSD |
|
V4130
|
Small Variation |
ACTC1 |
NC_000015.10:g.4636C>T |
isolated CHD: VSD |
|
V4131
|
Small Variation |
ACTC1 |
NC_000015.10:g.4922C>G |
isolated CHD: VSD |
|
V4132
|
Small Variation |
ACTC1 |
NC_000015.10:g.5187T>C |
isolated CHD: VSD |
|
V4133
|
Small Variation |
GABRP |
NM_014211.3:c.421C>T |
isolated CHD: PFO |
|
V4134
|
Small Variation |
GJB4 |
NM_153212.3:c.292C>T |
isolated CHD: PFO |
|
V4135
|
Small Variation |
RTTN |
NM_173630.4:c.5410G>A |
isolated CHD: PFO |
|
V4136
|
Small Variation |
USH2A |
NM_206933.4:c.5608C>T |
isolated CHD: PFO |
|
V4137
|
Small Variation |
ALKAL1 |
NM_207413.4:c.287G>A |
isolated CHD: ASD |
|
V4138
|
Small Variation |
AVL9 |
NM_015060.3:c. 1267G>A |
isolated CHD: ASD |
|
V4139
|
Small Variation |
C5 |
NM_001735.3:c.4432C>T |
isolated CHD: ASD |
|
V4140
|
Small Variation |
CRYAB |
NM_001289808.2:c.470G>A |
isolated CHD: ASD |
|
V4141
|
Small Variation |
DOCK8 |
NM_203447.4:c.989G>A |
isolated CHD: ASD |
|
V4142
|
Small Variation |
DOCK8 |
NM_203447.4:c.1193G>A |
isolated CHD: ASD |
|
V4143
|
Small Variation |
NTN3 |
NM_006181.3:c.1243C>T |
isolated CHD: ASD |
|
V4144
|
Small Variation |
PIWIL1 |
NM_004764.5:c.2207C>T |
isolated CHD: ASD |
|
V4145
|
Small Variation |
PLEKHG4 |
NM_001129729.3:c.2246G>A |
isolated CHD: ASD |
|
V4146
|
Small Variation |
TSCI |
NM_001399173.1:c.1460C>G |
isolated CHD: ASD |
|
V4147
|
Small Variation |
TTLL10 |
NM_001130045.2:c.1670T>C |
isolated CHD: SA/SV |
|
V4148
|
Small Variation |
MYH6 |
NM_ 002471.3:c.1390G>A |
isolated CHD: SA/SV |
|
V4149
|
Small Variation |
PLXNA2 |
NM_025179.4:c.3223C>T |
isolated CHD: SA/SV |
|
V4150
|
Small Variation |
HSD17B11 |
NM_016245.5:c.232G>A |
isolated CHD: SA/SV |
|
V4151
|
Small Variation |
IL16 |
NM_172217.5:c.1354G>A |
isolated CHD: SA/SV |
|
V4152
|
Small Variation |
CHD7 |
NM_017780.4:c.7252C>T |
isolated CHD: SA/SV |
|
V4153
|
Small Variation |
CORIN |
NM_006587.4:c.532C>T |
isolated CHD: SA/SV |
|
V4154
|
Small Variation |
PSD |
NM_002779.5:c.909G>C |
isolated CHD: SA/SV |
|
V4155
|
Small Variation |
ZNF322 |
NM_024639.5:c.1139T>C |
isolated CHD: SA/SV |
|
V4156
|
Small Variation |
SLC25A39 |
NM_001143780.3:c.4G>A |
isolated CHD: SA/SV |
|
V4157
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2266G>T |
isolated CHD: BAV,PLSVC,AVS |
|
V4158
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2266G>T |
isolated CHD: BAV,PLSVC,AVS |
|
V4159
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2266G>T |
isolated CHD: BAV,PLSVC,AVS |
|
V4160
|
Small Variation |
NOTCH1 |
NM_017617.5:c.2266G>T |
isolated CHD: BAV,PLSVC,AVS |
|
V4161
|
Small Variation |
AGBL2 |
NM_024783.4:c.2683_2684del |
isolated CHD: TOF |
|
V4162
|
Small Variation |
AGBL2 |
NM_024783.4:c.742C>T |
isolated CHD: TOF |
|
V4163
|
Small Variation |
MLF1 |
NM_001369783.1:c.778C>T |
isolated CHD: TOF |
|
V4164
|
Small Variation |
PKHD1L1 |
NM_177531.6:c.1820_1821del |
isolated CHD: TOF |
|
V4165
|
Small Variation |
PKHD1L1 |
NM_177531.6:c.2714_2717dup |
isolated CHD: TOF |
|
V4166
|
Small Variation |
PKHD1L1 |
NM_177531.6:c.4727del |
isolated CHD: TOF |
|
V4167
|
Small Variation |
PPEF2 |
NM_006239.3:c.1038G>A |
isolated CHD: TOF |
|
V4168
|
Small Variation |
PPEF2 |
NM_006239.3:c.1632_1633dup |
isolated CHD: TOF |
|
V4169
|
Small Variation |
SPTBN5 |
NM_016642.4:c.10970_10973del |
isolated CHD: TOF |
|
V4170
|
Small Variation |
SPTBN5 |
NM_016642.4:c.9417dup |
isolated CHD: TOF |
|
V4171
|
Small Variation |
SPTBN5 |
NM_016642.4:c.1318_1319del |
isolated CHD: TOF |
|
V4172
|
Small Variation |
TEKT3 |
NM_031898.3:c.544G>T |
isolated CHD: TOF |
|
V4173
|
Small Variation |
TEKT3 |
NM_031898.3:c.546_547delinsT |
isolated CHD: TOF |
|
V4174
|
Small Variation |
miR-21 |
NC_000017.11:g.59841670A>T |
isolated CHD: CHD |
|
V4175
|
Small Variation |
miR-21 |
NC_000017.11:g.59841670A>T |
isolated CHD: CHD |
|
V4176
|
Small Variation |
miR-21 |
NC_000017.11:g.59841670A>T |
isolated CHD: CHD |
|
V4177
|
Small Variation |
miR-21 |
NC_000017.11:g.59841670A>T |
isolated CHD: CHD |
|
V4178
|
Small Variation |
miR-21 |
NC_000017.11:g.59841670A>T |
isolated CHD: CHD |
|
V4179
|
Small Variation |
miR-21 |
|
isolated CHD: CHD |
|
V4180
|
Small Variation |
miR-21 |
|
isolated CHD: CHD |
|
V4181
|
Small Variation |
miR-21 |
|
isolated CHD: CHD |
|
V4182
|
Small Variation |
miR-21 |
|
isolated CHD: CHD |
|
V4183
|
Small Variation |
miR-21 |
|
isolated CHD: CHD |
|
V4184
|
Small Variation |
BMP2 |
NM_001200.4:c.482T>C |
isolated CHD: TA, ASD,VSD |
|
V4185
|
Small Variation |
TTN |
NM_001267550.2:c.103772G>A |
isolated CHD: TA, ASD,VSD |
|
V4186
|
Small Variation |
EOGT |
NM_001278689.2:с.1399A>T |
isolated CHD: TA, ASD,VSD |
|
V4187
|
Small Variation |
MYH6 |
NM_002471.4:c.5410C>А |
isolated CHD: TA, ASD,VSD |
|
V4188
|
Small Variation |
ZFPM2 |
NM_012082.4:c.2107A>C |
isolated CHD: TA, ASD,VSD |
|
V4189
|
Small Variation |
NOTCH3 |
NM_000435.3:c.4762A>C |
isolated CHD: TA, ASD,VSD |
|
V4190
|
Small Variation |
MYH6 |
NM_ 002471.3:c.5410C>A |
isolated CHD: TA, ASD,VSD |
|
V4191
|
Small Variation |
DNAH11 |
NM_001277115.1:c.4306C>T |
isolated CHD: TA, ASD,VSD |
|
V4192
|
Small Variation |
TTN |
NM_001267550.2:c.34216C>A |
isolated CHD: TA, ASD,VSD |
|
V4193
|
Small Variation |
PCDHB4 |
NM_018938.4:c.599A>G |
isolated CHD: TA, ASD,VSD |
|
V4194
|
Small Variation |
TTN |
NM_001267550.2:c.77836G>A |
isolated CHD: TA, ASD,VSD |
|
V4195
|
Small Variation |
TTN |
NM_001267550.2:c.73568C>A |
isolated CHD: TA, ASD,VSD |
|
V4196
|
Small Variation |
LRP2 |
NM_004525.3:c.233G>C |
isolated CHD: TA, ASD,VSD |
|
V4197
|
Small Variation |
FOXC1 |
NM_001453.3:c.1347_1348ins |
isolated CHD: TA, ASD,VSD |
|
V4198
|
Small Variation |
TTN |
NM_001267550.2:c.92336G>C |
isolated CHD: TA, ASD,VSD |
|
V4199
|
Small Variation |
EVC |
NM_153717.3:c. 1727G>A |
isolated CHD: TA, ASD,VSD |
|
V4200
|
Small Variation |
TBX1 |
NM_001379200.1:c.928G>A |
isolated CHD: TA, ASD,VSD |
|
V4201
|
Small Variation |
MESP2 |
NM_001039958.2:c.306C>A |
isolated CHD: TA, ASD,VSD |
|
V4202
|
Small Variation |
SHROOM3 |
NM_020859.4:c.440T>A |
isolated CHD: TA, ASD,VSD |
|
V4203
|
Small Variation |
TBX18 |
NM_001080508.3:c.244_255dup |
isolated CHD: TA, ASD,VSD |
|
V4204
|
Small Variation |
NKX2-6 |
NM_001136271.3:c.368G>A |
isolated CHD: TA, ASD,VSD |
|
V4205
|
Small Variation |
TBX20 |
NM_001077653.2:c.785C>T |
isolated CHD: TA, ASD,VSD |
|
V4206
|
Small Variation |
GATA5 |
NM_080473:c.374A>T |
isolated CHD: TA, ASD,VSD |
|
V4207
|
Small Variation |
TTN |
NM_001267550.2:c.78855T>C |
isolated CHD: TA, ASD,VSD |
|
V4208
|
Small Variation |
MYH6 |
NM_ 002471.3:c.5410C>А |
isolated CHD: TA, ASD,VSD |
|
V4209
|
Small Variation |
TTN |
NM_001267550.2:с. 105642C>А |
isolated CHD: TA, ASD,VSD |
|
V4210
|
Small Variation |
МYВРСЗ |
NULL:c.1286C>T |
isolated CHD: TA, ASD,VSD |
|
V4211
|
Small Variation |
TTN |
NM_001267550.2:c.10840G>T |
isolated CHD: TA, ASD,VSD |
|
V4212
|
Small Variation |
CYP51A1 |
NM_000786.4:c.1147A>G |
isolated CHD: CHD |
|
V4213
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.547C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4214
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.547C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4215
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.547C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4216
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.547C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4217
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.898dup |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4218
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.1060C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4219
|
Small Variation |
RBFOX2 |
NM_001349999.2:c.745C>T |
isolated CHD: HLHS,VSD,CoA,Aortic valve abnormal |
|
V4220
|
Small Variation |
CDC42 |
NM_001791.4:c.-51+9062G>A |
isolated CHD: ASD/VSD/PDA |
|
V4221
|
Small Variation |
CDC42 |
NM_001791.4:c.-51+9637C>T |
isolated CHD: ASD/VSD/PDA |
|
V4222
|
Small Variation |
CDC42 |
NM_001791.4:c.-50-7723C>T |
isolated CHD: ASD/VSD/PDA |
|
V4223
|
Small Variation |
CDC42 |
NM_001791.4:c.-50-6017A>G |
isolated CHD: ASD/VSD/PDA |
|
V4224
|
Small Variation |
MYH3 |
NM_002470.4:c.4357-10G>A |
isolated CHD: TA |
|
V4225
|
Small Variation |
NKX2-5 |
NM_004387.4:c.890_891dup |
isolated CHD: TA |
|
V4226
|
Small Variation |
ACTC1 |
NM_005159.5:c.663_679dup |
isolated CHD: TA |
|
V4227
|
Small Variation |
FBN1 |
NM_000138.5:c.8038C>T |
isolated CHD: TA |
|
V4228
|
Small Variation |
NONO |
NM_ 007363.5:c.550C>T |
isolated CHD: TA |
|
V4229
|
Small Variation |
CCDC22 |
NM_014008.5:c.1273C>T |
isolated CHD: TA |
|
V4230
|
Small Variation |
EVC2 |
NM_147127.5:c.732C>G |
isolated CHD: TA |
|
V4231
|
Small Variation |
PKDIL1 |
NM_ 138295.5:c.2836+2T>G |
isolated CHD: TA |
|
V4232
|
Small Variation |
TGFB2 |
NM_003238.6:c.958C>T |
isolated CHD: TA |
|
V4233
|
Small Variation |
DNASE1L3 |
NM_004944.4:c.320+1G>C |
isolated CHD: TA |
|
V4234
|
Small Variation |
POLG |
NM_ 002693.3:c.3218C>T |
isolated CHD: TA |
|
V4235
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4236
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4237
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4238
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4239
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4240
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4241
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4242
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4243
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4244
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4245
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4246
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4247
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4248
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4249
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4250
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4251
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4252
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4253
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4254
|
Small Variation |
MTHFR |
NM_005957.4:c.665C>T |
isolated CHD: CHD |
|
V4255
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4256
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4257
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4258
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4259
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4260
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4261
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4262
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4263
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4264
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4265
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4266
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4267
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4268
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
|
V4269
|
Small Variation |
MTRR |
NM_002454.3:c.66A>G |
isolated CHD: CHD |
