|
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 |
