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 |
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, AAH |
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, hyplplastic LV/ 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 |
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 |
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, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1038 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
V1039 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
V1040 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1041 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
V1042 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
V1043 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
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, hyplplastic LV/ CoA, VSD |
V1078 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1079 |
Small Variation |
GATA4 |
NM_001308093.1:c.1292T>G |
isolated CHD/non-isolated CHD: SV, PS/ASD |
V1080 |
Small Variation |
CFC1 |
NM_032545.3:c.433G>A |
isolated CHD: TGA |
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, hypoplastic RV, Long ST/QT |
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, bic AOV |
V1427 |
Small Variation |
KCNH2 |
NM_000238.4:c.(1591C>T) |
isolated CHD: PDA |
V1428 |
Small Variation |
KCNH2 |
NM_000238.4:c.(2147T>G) |
non-isolated CHD: HA/Fenestrated ASDs |
V1429 |
Small Variation |
KCNH2 |
NM_000238.4:c.(2536C>T) |
isolated CHD: Pm VSD |
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 |
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, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1687 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
V1688 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: TOF |
V1689 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD/non-isolated CHD: DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS |
V1690 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
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, RVOT stenosis |
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 |
isolated CHD/complex CHD: NA |
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 |
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 |
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 |
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 |
isolated CHD/complex CHD: NA |
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 |
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 |
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 |
V2488 |
Small Variation |
FOXC2 |
NC_000016.10:g.86566824C>G |
isolated CHD: HLHS |
V2490 |
Small Variation |
TBX20 |
NC_000007.14:g.35236224C>G |
isolated CHD: HLHS |
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 |
C0001 |
CNV |
NA |
NA |
non-isolated CHD: PAS, PDA |
C0002 |
CNV |
NA |
chr1: g.144106312_145848312dup |
isolated CHD: TOF |
C0003 |
CNV |
GJA5 |
chr1: g.145658465_145658583dup |
isolated CHD: PA |
C0004 |
CNV |
NA |
chr1: g.144967972_146386972del |
isolated CHD: TGA |
C0005 |
CNV |
NA |
chr1: g.144967972_146292972del |
isolated CHD: ASD |
C0006 |
CNV |
NA |
chr1: g.144967972_146292972del |
non-isolated CHD: MV, VSD |
C0007 |
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
C0008 |
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
C0009 |
CNV |
NA |
chr1: g.144943150_146293150dup |
isolated CHD: TOF |
C0010 |
CNV |
NA |
chr1: g.144967972_146292972dup |
isolated CHD: TOF |
C0011 |
CNV |
NA |
chr1: g.144967972_146292972dup |
isolated CHD: TOF |
C0012 |
CNV |
NA |
chr1: g.144967972_146288972dup |
isolated CHD: TOF |
C0013 |
CNV |
NA |
chr1: g.144967972_144968852dup |
non-isolated CHD: TOF, PA |
C0014 |
CNV |
TMEM130, TRRAP, SMURF1 |
NA |
isolated CHD: AC |
C0015 |
CNV |
ZNF710, IDH2, SEMA4B, CIB1, LOC390637, TTLL13, NGRN, ZNF774, QGAP1 |
NA |
isolated CHD: VSD |
C0016 |
CNV |
TBX1 |
NA |
isolated CHD: VSD |
C0017 |
CNV |
SPOCK3, ANXA10 |
NA |
non-isolated CHD: VSD, PDA |
C0018 |
CNV |
NA |
NA |
isolated CHD: PS |
C0019 |
CNV |
OPCML |
NA |
isolated CHD: VSD |
C0020 |
CNV |
KIAA0564, DGKH |
NA |
non-isolated CHD: BAV, AI |
C0021 |
CNV |
MACROD2 |
NA |
non-isolated CHD: AS, BAV |
C0022 |
CNV |
HIC2, UBE2L3, YDJC, CCDC116, SDF2L1, PPIL2, YPEL1, MAPK1,
PPM1F, TOP3B, VPREB1, ZNF280B, ZNF280A, PRAME, GGTLC2 |
NA |
non-isolated CHD: SA, VSD, TVD, RVH |
C0023 |
CNV |
TBX1 |
NA |
non-isolated CHD: AC, VSD |
C0024 |
CNV |
TNFSF11, C13orf30, EPSTI1, DNAJD2, ENOX1, CDC122, C13orf31C |
NA |
non-isolated CHD: ALV, TAPVC, VSD |
C0025 |
CNV |
RAI1 |
NA |
non-isolated CHD: VSD, ASD |
C0026 |
CNV |
CD160, PDZK1, NBPF11, PRKAB2, FMO5, CHD1L, BCL9, ACP6,
GJA5, GJA8, GPR89, FLJ39739 |
NA |
non-isolated CHD: ASD, PDA |
C0027 |
CNV |
BIRC6, TTC27, LTBP1 |
NA |
isolated CHD: VSD |
C0028 |
CNV |
SLC25A38, RPSA, MOBP |
NA |
isolated CHD: AC |
C0029 |
CNV |
FAM62C, CEP70, FAIM, PIK3CB, FOXL2, BPESC1 |
NA |
isolated CHD: TAPVC |
C0030 |
CNV |
MEGF10, PRRC1, CTXN3 |
NA |
non-isolated CHD: DORV, CoA |
C0031 |
CNV |
Gene empty region |
NA |
isolated CHD: TOF |
C0032 |
CNV |
NA |
chr22: g.17370128_19790009del |
non-isolated CHD: IAA, VSD |
C0033 |
CNV |
HAO1, TMX4, PLCB1 |
chr20: g.7042566_8563472del |
isolated CHD: AVSD |
C0034 |
CNV |
NA |
chr3: g.164859888_165867655del |
isolated CHD: AVSD |
C0035 |
CNV |
SFPQ |
HG18 chr1: g.35138921_35758859del |
isolated CHD: TOF |
C0036 |
CNV |
NA |
HG18 chr2: g.154772039_156750990dup |
isolated CHD: TOF |
C0037 |
CNV |
EDIL3, cVCAN |
HG18 chr5: g.80665064_86119882dup |
isolated CHD: TOF |
C0038 |
CNV |
NA |
HG18 chr2: g.188273007_188973872del |
isolated CHD: TOF |
C0039 |
CNV |
CHL1 |
HG18 chr3: g.60002_1055034dup |
isolated CHD: TOF |
C0040 |
CNV |
NA |
HG18 chr4: g.28835868_34833117del |
isolated CHD: TOF |
C0041 |
CNV |
NA |
HG18 chr4: g.188923641_189437641del |
isolated CHD: TOF |
C0042 |
CNV |
SLC25A46 |
HG18 chr5: g.109622167_110233167dup |
isolated CHD: TOF |
C0043 |
CNV |
NA |
HG18 chr5: g.130124159_130935159dup |
isolated CHD: TOF |
C0044 |
CNV |
SOX4 |
HG18 chr6: g.21587649_23687649dup |
isolated CHD: TOF |
C0045 |
CNV |
NA |
HG18 chr6: g.61987979_62978979dup |
isolated CHD: TOF |
C0046 |
CNV |
NA |
HG18 chr6: g.81166965_81926965dup |
isolated CHD: TOF |
C0047 |
CNV |
GJA5 |
HG18 chr1: g.143590972_147572692dup |
isolated CHD: TOF |
C0048 |
CNV |
NA |
HG18 chr7: g.57264874_57910660dup |
isolated CHD: TOF |
C0049 |
CNV |
C12orf66 |
HG18 chr12: g.62843704_62921704dup |
isolated CHD: TOF |
C0050 |
CNV |
NA |
HG18 chr8: g.3778626_5938257dup |
isolated CHD: TOF |
C0051 |
CNV |
ANGPT2 |
HG18 chr8: g.6187821_7225430del |
isolated CHD: TOF |
C0052 |
CNV |
NA |
HG18 chr8: g.47203026_48101825dup |
isolated CHD: TOF |
C0053 |
CNV |
NA |
HG18 chr9: g.38951514_40609761dup |
isolated CHD: TOF |
C0054 |
CNV |
NA |
HG18 chr10: g.41941187_42694002dup |
isolated CHD: TOF |
C0055 |
CNV |
NA |
HG18 chr10: g.125510180_126253484dup |
isolated CHD: TOF |
C0056 |
CNV |
CASP1, CASP4, CASP5,
CASP12 |
HG18 chr11: g.103542068_104794260dup |
isolated CHD: TOF |
C0057 |
CNV |
NA |
HG18 chr12: g.33432314_34007723del |
isolated CHD: TOF |
C0058 |
CNV |
NA |
HG18 chr12: g.125358126_126151370del |
isolated CHD: TOF |
C0059 |
CNV |
GJA5 |
HG18 chr1: g.144643825_146273899dup |
isolated CHD: TOF |
C0060 |
CNV |
NBEA, PDS5B, SPG20 |
HG18 chr13: g.31086497_35813387del |
isolated CHD: TOF |
C0061 |
CNV |
TNFSF11 |
HG18 chr13: g.42009354_42564700dup |
isolated CHD: TOF |
C0062 |
CNV |
NA |
HG18 chr13: g.103096790_103922205dup |
isolated CHD: TOF |
C0063 |
CNV |
HNF1B |
HG18 chr17: g.31610407_33552902dup |
isolated CHD: TOF |
C0064 |
CNV |
WNK3 |
HG18 chrX: g.54374737_54424737dup |
isolated CHD: TOF |
C0065 |
CNV |
HIRIP3, MAPK3, PPP4C, TBX6 |
HG18 chr16: g.29487535_30085309dup |
isolated CHD: TOF |
C0066 |
CNV |
NXN |
HG18 chr17: g.366915_910860dup |
isolated CHD: TOF |
C0067 |
CNV |
NA |
HG18 chr17: g.5528898_6196702del |
isolated CHD: TOF |
C0068 |
CNV |
FOXO3B |
HG18 chr17: g.18296117_18991652dup |
isolated CHD: TOF |
C0069 |
CNV |
CNN2, FSTL3, PTBP1, WDR18 |
HG18 chr19: g.183496_989223del |
isolated CHD: TOF |
C0070 |
CNV |
GNA11, S1PR4 |
HG18 chr19: g.2500048_3208416dup |
isolated CHD: TOF |
C0071 |
CNV |
GJA5 |
HG18 chr1: g.144643825_146311415dup |
isolated CHD: TOF |
C0072 |
CNV |
ZNF347 |
HG18 chr19: g.57807872_58437550dup |
isolated CHD: TOF |
C0073 |
CNV |
NA |
HG18 chr21: g.20282405_20842782dup |
isolated CHD: TOF |
C0074 |
CNV |
CRKL, HIRA, TBX1 |
HG18 chr22: g.17190110_19364810dup |
isolated CHD: TOF |
C0075 |
CNV |
NA |
HG18 chr21: g.29607482_30244785del |
isolated CHD: TOF |
C0076 |
CNV |
PLXNA2 |
HG18 chr1: g.206337728_206399274del |
isolated CHD: TOF |
C0077 |
CNV |
NA |
HG18 chrX: g.13788639_14404579dup |
isolated CHD: TOF |
C0078 |
CNV |
GJA5 |
HG18 chr1: g.145700719_145711066dup |
isolated CHD: TOF |
C0079 |
CNV |
RAF1 |
HG18 chr3: g.12665657_12682841del |
isolated CHD: TOF |
C0080 |
CNV |
ANGPT2 |
HG18 chr8: g.6342621_6402283del |
isolated CHD: TOF |
C0081 |
CNV |
NBEA |
HG18 chr13: g.34960143_34980763del |
isolated CHD: TOF |
C0082 |
CNV |
CECR5 |
HG18 chr22: g.16014050_16032050del |
isolated CHD: TOF |
C0083 |
CNV |
CDH19 |
HG18 chr18: g.62118826_62372859del |
isolated CHD: TOF |
C0084 |
CNV |
PLXNA2 |
HG18 chr1: g.206369712_206379934del |
isolated CHD: TOF |
C0085 |
CNV |
GJA5 |
HG18 chr1: g.144643825_146395961dup |
isolated CHD: TOF |
C0086 |
CNV |
CHRM3 |
HG18 chr1: g.237983869_238365506dup |
isolated CHD: TOF |
C0087 |
CNV |
CHRM3 |
HG18 chr1: g.238098745_238109313del |
isolated CHD: TOF |
C0088 |
CNV |
CCDC148 |
HG18 chr2: g.158961179_159012386del |
isolated CHD: TOF |
C0089 |
CNV |
CCDC148 |
HG18 chr2: g.158961179_159012386del |
isolated CHD: TOF |
C0090 |
CNV |
BARD1 |
HG18 chr2: g.215266200_215351867del |
isolated CHD: TOF |
C0091 |
CNV |
BARD1 |
HG18 chr2: g.215321117_215380434del |
isolated CHD: TOF |
C0092 |
CNV |
PPM1K |
HG18 chr4: g.89393217_89448854dup |
isolated CHD: TOF |
C0093 |
CNV |
FSTL4 |
HG18 chr5: g.132946021_132961028del |
isolated CHD: TOF |
C0094 |
CNV |
FSTL4 |
HG18 chr5: g.132953135_132963633del |
isolated CHD: TOF |
C0095 |
CNV |
GMDS |
HG18 chr6: g.1939891_1951033del |
isolated CHD: TOF |
C0096 |
CNV |
DISP1 |
HG18 chr1: g.220214502_221265766del |
isolated CHD: TOF |
C0097 |
CNV |
ARHGEF10 |
HG18 chr8: g.1716624_1873450dup |
isolated CHD: TOF |
C0098 |
CNV |
ARHGEF10 |
HG18 chr8: g.1736348_1762248del |
isolated CHD: TOF |
C0099 |
CNV |
KCNB2 |
HG18 chr8: g.73871523_73950003dup |
isolated CHD: TOF |
C0100 |
CNV |
KCNB2 |
HG18 chr8: g.73885905_74010694dup |
isolated CHD: TOF |
C0101 |
CNV |
C12ORF66 |
HG18 chr12: g.62843704_62921993dup |
isolated CHD: TOF |
C0102 |
CNV |
KIAA1609 |
HG18 chr16: g.83066869_83082922del |
isolated CHD: TOF |
C0103 |
CNV |
KIAA1609 |
HG18 chr16: g.83094514_83120896del |
isolated CHD: TOF |
C0104 |
CNV |
CHST8 |
HG18 chr19: g.38902591_38929184dup |
isolated CHD: TOF |
C0105 |
CNV |
CHST8 |
HG18 chr19: g.38902591_38926410dup |
isolated CHD: TOF |
C0106 |
CNV |
CECR5 |
HG18 chr22: g.15996510_16015490del |
isolated CHD: TOF |
C0107 |
CNV |
LBH |
HG18 chr2: g.29418234_30987444dup |
isolated CHD: TOF |
C0108 |
CNV |
WNK3 |
HG18 chrX: g.54325120_54472796dup |
isolated CHD: TOF |
C0109 |
CNV |
IDS |
HG18 chrX: g.148308784_148462406dup |
isolated CHD: TOF |
C0110 |
CNV |
IDS |
HG18 chrX: g.148377523_148628360dup |
isolated CHD: TOF |
C0111 |
CNV |
FGF10 |
HG18 chr5: g.44314920_44450566del |
isolated CHD: TOF |
C0112 |
CNV |
SNX8 |
HG18 chr7: g.2310838_2490906del |
isolated CHD: TOF |
C0113 |
CNV |
DNAH11 |
HG18 chr7: g.21570799_21750666del |
isolated CHD: TOF |
C0114 |
CNV |
BBS9 |
HG18 chr7: g.33293709_33552763del |
isolated CHD: TOF |
C0115 |
CNV |
SEMA3E |
HG18 chr7: g.82968279_83020607del |
isolated CHD: TOF |
C0116 |
CNV |
SEMA3D |
HG18 chr7: g.84477068_84486659del |
isolated CHD: TOF |
C0117 |
CNV |
NA |
HG18 chr2: g.97982662_98531050dup |
isolated CHD: TOF |
C0118 |
CNV |
ARHGEF4 |
HG18 chr2: g.131194418_132021416del |
isolated CHD: TOF |
C0119 |
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
NA |
isolated CHD: DOA |
C0120 |
CNV |
PXDNL |
NA |
isolated CHD: LS-CHD |
C0121 |
CNV |
PXDNL |
NA |
isolated CHD: LS-CHD |
C0122 |
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
NA |
non-isolated CHD: DOA, LS-CHD |
C0123 |
CNV |
PXDNL |
NA |
non-isolated CHD: DOA, LS-CHD |
C0124 |
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
NA |
non-isolated CHD: DOA, VSD, BAV |
C0125 |
CNV |
LIMS1 |
NA |
non-isolated CHD: DOA, VSD, BAV |
C0126 |
CNV |
PARP14, HSPBAP1, DIRC2, SEMA5 |
NA |
non-isolated CHD: BAV, CoA, VSD |
C0127 |
CNV |
LIMS1 |
NA |
non-isolated CHD: BAV, CoA, VSD |
C0128 |
CNV |
NA |
NA |
non-isolated CHD: BAV, CoA, VSD |
C0129 |
CNV |
MSX1, EVC, EVC2 |
NA |
isolated CHD: LS-CHD |
C0130 |
CNV |
KDELC1, C13orf39, C13orf40, C13orf27, TPP2, BIVM, ERCC5 |
NA |
non-isolated CHD: LS-CHD, other |
C0131 |
CNV |
KDELC1, C13orf39, C13orf40, C13orf27, TPP2, BIVM, ERCC5 |
NA |
isolated CHD: LS-CHD |
C0132 |
CNV |
NGEF |
NA |
isolated CHD: LS-CHD |
C0133 |
CNV |
NGEF |
NA |
isolated CHD: LS-CHD |
C0134 |
CNV |
NA |
NA |
non-isolated CHD: NA |
C0135 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
non-isolated CHD: LS-CHD, other |
C0136 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
isolated CHD: LS-CHD |
C0137 |
CNV |
NFATC1 |
NA |
isolated CHD: VSD |
C0138 |
CNV |
AK097143 |
chr6: g.142187041_142290041del |
isolated CHD: VSD |
C0139 |
CNV |
CRKL |
NA |
isolated CHD: VSD |
C0140 |
CNV |
PLXNA1 |
NA |
isolated CHD: ASD |
C0141 |
CNV |
WWOX |
chr16: g.76976883_77088883dup |
isolated CHD: ASD |
C0142 |
CNV |
WWOX |
chr16: g.76976883_77088883dup |
isolated CHD: ASD |
C0143 |
CNV |
WWOX, CLEC3A, VAT1L |
chr16: g.76450854_76562854dup |
isolated CHD: PDA |
C0144 |
CNV |
CDC14B, ZNF510, C9orf21 |
chr9: g.98386288_98560288dup |
isolated CHD: ASD |
C0145 |
CNV |
CDC14B, ZNF510, C9orf21 |
chr9: g.98386288_98563288dup |
isolated CHD: ASD |
C0146 |
CNV |
AK097143 |
chr6: g.142083736_142203736del |
isolated CHD: ASD |
C0147 |
CNV |
NA |
chr17: g.87009_1184534del |
non-isolated CHD: VSD, PS |
C0148 |
CNV |
NA |
chr22: g.18919942_21440514del |
non-isolated CHD: VSD, PS |
C0149 |
CNV |
NA |
chr8: g.7753524_1184101dup |
non-isolated CHD: DORV, CoA, LSVC, MA, VSD, CSD |
C0150 |
CNV |
NA |
chr10: g.131585685_134832720del |
non-isolated CHD: VSD, OA, RVHP |
C0151 |
CNV |
NA |
chr6: g.93609026_96533581dup |
non-isolated CHD: VSD, OA, RVHP |
C0152 |
CNV |
MYL2 |
chr6: g.5067718_5210399dup |
non-isolated CHD: VSD, PS, right atrial dilatation |
C0153 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0154 |
CNV |
NA |
NA |
non-isolated CHD: TOF, PDA/PA, PDA |
C0155 |
CNV |
NA |
NA |
non-isolated CHD: TOF, MAPCA/PA, MAPCA |
C0156 |
CNV |
NA |
NA |
non-isolated CHD: TOF, APVS |
C0157 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0158 |
CNV |
NA |
NA |
isolated CHD: VSD |
C0159 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0160 |
CNV |
NA |
NA |
isolated CHD: CoA |
C0161 |
CNV |
NA |
NA |
isolated CHD: PTA |
C0162 |
CNV |
NA |
NA |
isolated CHD: AVS |
C0163 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0164 |
CNV |
NA |
NA |
isolated CHD: RAA |
C0165 |
CNV |
NA |
NA |
isolated CHD: BSVC |
C0166 |
CNV |
DGKD, USP40 |
chr2: g.234255714_234415570del |
isolated CHD: PA |
C0167 |
CNV |
NR5A1, NR6A1 |
chr9: g.127104486_127759670dup |
isolated CHD: PA |
C0168 |
CNV |
CUBN |
chr10: g.16883466_17058324dup |
isolated CHD: PA |
C0169 |
CNV |
FGF14 |
chr13: g.102902377_103345247dup |
isolated CHD: PA |
C0170 |
CNV |
IGF1R, SYNM |
chr15: g.99004156_99782996dup |
isolated CHD: PA |
C0171 |
CNV |
MYH11, ABCC6, NDE1 |
chr16: g.15395312_16270740dup |
isolated CHD: PA |
C0172 |
CNV |
ABCA3, TSC2, PKD1, TBC1D24 |
chr16: g.1866643_2604949del |
isolated CHD: PA |
C0173 |
CNV |
CAMTA2, CHRNE, GP1BA, ENO3 |
chr17: g.4041358_5091377del |
isolated CHD: PA |
C0174 |
CNV |
TBX1 |
chr22: g.17255869_18692668del |
isolated CHD: PA |
C0175 |
CNV |
TBX1 |
chr22: g.17089407_19795050del |
isolated CHD: PA |
C0176 |
CNV |
TBX1 |
chr22: g.17101361_19801287del |
isolated CHD: PA |
C0177 |
CNV |
NA |
chr3: g.204652_4944387del |
isolated CHD: PA |
C0178 |
CNV |
TBX1 |
chr22: g.17255869_19795050del |
isolated CHD: PA |
C0179 |
CNV |
NA |
chr10: g.59083_5276600dup |
isolated CHD: PA |
C0180 |
CNV |
NA |
chr3: g.38411_4944387del |
isolated CHD: PA |
C0181 |
CNV |
NA |
chr10: g.103934_5297659dup |
isolated CHD: PA |
C0182 |
CNV |
SMN1, SMN2 |
chr5: g.68930217_70573127del |
isolated CHD: PA |
C0183 |
CNV |
DHFR, DMGDH, PDE8B, AP3B, ARSB |
chr5: g.75132315_79958945dup |
isolated CHD: PA |
C0184 |
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467185_31569111del |
isolated CHD: PA |
C0185 |
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467627_3157090del |
isolated CHD: PA |
C0186 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0187 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0188 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0189 |
CNV |
NA |
NA |
non-isolated CHD: VSD, PS |
C0190 |
CNV |
NA |
NA |
isolated CHD: ECD |
C0191 |
CNV |
NA |
NA |
isolated CHD: NA |
C0192 |
CNV |
NA |
NA |
isolated CHD: NA |
C0193 |
CNV |
JUN |
chr1: g.59247993_59251097del |
isolated CHD: HLHS |
C0194 |
CNV |
CCDC127,
LRRC14B,
PLEKHG4B, SDHA |
chr5: g.136464_232969dup |
isolated CHD: TOF |
C0195 |
CNV |
CDKN1A |
chr6: g.36646788_36651971del |
isolated CHD: HTX |
C0196 |
CNV |
POLR1C |
chr6: g.43484783_43485159dup |
isolated CHD: TOF |
C0197 |
CNV |
C7orf55, FAM115A, LUC7L2, MKRN1,
NDUFB2, UBN2, ZC3HAV1L, ZYX |
chr7: g.138258252_143807632del |
isolated CHD: TOF |
C0198 |
CNV |
D203MTRNR2L6,
PRSS1 |
|
isolated CHD: TOF |
C0199 |
CNV |
GATA4 |
|
isolated CHD: TOF |
C0200 |
CNV |
GATA4 |
|
isolated CHD: TOF |
C0201 |
CNV |
CAT |
|
isolated CHD: VSD |
C0202 |
CNV |
HNRNPKP3 |
|
isolated CHD: ASD |
C0203 |
CNV |
EHBP1L1, LTBP3, MAP3K11, PCNXL3, SCYL1, SSSCA1 |
|
non-isolated CHD: TOF, PA |
C0204 |
CNV |
GJA5 |
|
non-isolated CHD: TOF, APVS |
C0205 |
CNV |
LOC283177 |
|
isolated CHD: VSD |
C0206 |
CNV |
SLC2A14, SLC2A3 |
|
non-isolated CHD: LVNC, VSD |
C0207 |
CNV |
KRT6C |
|
isolated CHD: HLHS |
C0208 |
CNV |
TIMM9, TOMM20L |
|
isolated CHD: TOF |
C0209 |
CNV |
LIN52 |
|
isolated CHD: TOF |
C0210 |
CNV |
CYFIP1 |
|
isolated CHD: CoA |
C0211 |
CNV |
CYFIP1 |
|
isolated CHD: CoA |
C0212 |
CNV |
CYFIP1 |
|
non-isolated CHD: TOF, PA |
C0213 |
CNV |
HERC2 |
|
isolated CHD: ASD |
C0214 |
CNV |
EIF3J, SPG11 |
|
non-isolated CHD: TA, D-TGA |
C0215 |
CNV |
GJA5 |
|
isolated CHD: TOF |
C0216 |
CNV |
NTRK3 |
|
non-isolated CHD: TOF, D-TGA |
C0217 |
CNV |
TOP2A |
|
isolated CHD: TOF |
C0218 |
CNV |
EIF1 |
|
isolated CHD: TOF |
C0219 |
CNV |
C5AR1, C5AR2, DHX34 |
|
non-isolated CHD: TOF, PA |
C0220 |
CNV |
MACROD2, MACROD2-IT1 |
|
isolated CHD: D-TGA |
C0221 |
CNV |
TBX1 |
|
isolated CHD: TOF |
C0222 |
CNV |
NA |
|
isolated CHD: TOF |
C0223 |
CNV |
APOL5, APOL6, RBFOX2 |
|
isolated CHD: HLHS |
C0224 |
CNV |
DDX53, RP11-40F8.2 |
|
non-isolated CHD: TOF, D-TGA |
C0225 |
CNV |
OR2T10, OR2T11 |
|
isolated CHD: HLHS |
C0226 |
CNV |
PCBP1 |
|
non-isolated CHD: TOF, PA |
C0227 |
CNV |
MAP4K4 |
NA |
isolated CHD: HLHS |
C0228 |
CNV |
ZEB2 |
|
isolated CHD: HLHS |
C0229 |
CNV |
BTD, HACL1 |
|
isolated CHD: TOF |
C0230 |
CNV |
CDC25A, DHX30, MAP4, SMARCC1 |
|
isolated CHD: HLHS |
C0231 |
CNV |
NA |
NA |
isolated CHD: AS |
C0232 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0233 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0234 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0235 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0236 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0237 |
CNV |
NA |
NA |
isolated CHD: HLHS |
C0238 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0239 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0240 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0241 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
C0242 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
C0243 |
CNV |
NA |
NA |
isolated CHD: PS |
C0244 |
CNV |
NA |
NA |
isolated CHD: CoA |
C0245 |
CNV |
NA |
NA |
isolated CHD: Septation defects |
C0246 |
CNV |
NA |
NA |
isolated CHD: Septation defects |
C0247 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0248 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0249 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0250 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
C0251 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
C0252 |
CNV |
NA |
NA |
isolated CHD: TA |
C0253 |
CNV |
NA |
NA |
isolated CHD: VSD |
C0254 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0255 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0256 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0257 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0258 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0259 |
CNV |
NA |
NA |
isolated CHD: EA |
C0260 |
CNV |
NA |
NA |
isolated CHD: CoA |
C0261 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0262 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0263 |
CNV |
NA |
NA |
non-isolated CHD: PA, VSD |
C0264 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0265 |
CNV |
NA |
NA |
isolated CHD: TA |
C0266 |
CNV |
NA |
NA |
isolated CHD: VSD |
C0268 |
CNV |
MIR598, MTMR9, SLC35G5, TDH,
C8orf12, FAM167A,
BLK, LINC00208,
GATA4, NEIL2, FDFT1, CTSB, REPPb |
|
non-isolated CHD: CIAV, CoA, VSD, parachute mitral valve, transverse hypoplasia |
C0269 |
CNV |
PLB1, PPP1CB, SPDYA, TRMT61B,
WDR43, FAM179A, C2orf71, CLIP4 |
|
isolated CHD: CoA |
C0270 |
CNV |
LMO7 |
|
isolated CHD: CoA |
C0271 |
CNV |
MAFF, TMEM184B |
|
isolated CHD: CoA |
C0272 |
CNV |
RASA2 |
|
isolated CHD: CoA |
C0273 |
CNV |
PDE8A |
|
isolated CHD: CoA |
C0274 |
CNV |
GLIS3, GLIS3-AS1 |
|
isolated CHD: CoA |
C0275 |
CNV |
PDCD1LG2, KIAA1432 |
|
isolated CHD: CoA |
C0276 |
CNV |
ADH1B |
|
isolated CHD: TGA |
C0277 |
CNV |
FAN1, MTMR10, TRPM1, MIR211, RP11-16E12.2, KLF13, OTUD7A, CHRNA7 |
|
isolated CHD: TGA |
C0278 |
CNV |
PRDM5 |
|
isolated CHD: TGA |
C0279 |
CNV |
VPS13B |
|
isolated CHD: TGA |
C0280 |
CNV |
FBN1 |
|
isolated CHD: TGA |
C0281 |
CNV |
WDR33 |
|
isolated CHD: TGA |
C0282 |
CNV |
CSMD1 |
|
isolated CHD: TGA |
C0283 |
CNV |
MAD1L1, FTSJ2 |
|
isolated CHD: CoA |
C0284 |
CNV |
ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17 |
|
isolated CHD: TGA |
C0285 |
CNV |
LRCH3, IQCG, RPL35A, LMLN,
ANKRD18DP |
|
isolated CHD: TGA |
C0286 |
CNV |
RLN3, IL27RA |
|
isolated CHD: TGA |
C0287 |
CNV |
PNPLA4 |
|
isolated CHD: TGA |
C0288 |
CNV |
BTRC, POLL |
|
isolated CHD: TGA |
C0289 |
CNV |
DAOA-AS1, DAOA, LINC00343 |
|
isolated CHD: TGA |
C0290 |
CNV |
BTRC |
|
isolated CHD: TGA |
C0291 |
CNV |
CEP85L, BRD7P3, PLN |
|
isolated CHD: TGA |
C0292 |
CNV |
ST18, FAM150A, RB1CC1 |
|
isolated CHD: TGA |
C0293 |
CNV |
EXOSC9, CCNA2 |
|
isolated CHD: TGA |
C0294 |
CNV |
NUSAP1, NDUFAF1 |
|
isolated CHD: TGA |
C0295 |
CNV |
SORBS2 |
|
isolated CHD: TGA |
C0296 |
CNV |
CNNM2, NT5C2 |
|
isolated CHD: CoA |
C0297 |
CNV |
ACSL6, LOC728637 |
|
isolated CHD: TGA |
C0298 |
CNV |
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B |
|
isolated CHD: TGA |
C0299 |
CNV |
CDR2, PRN3P3 |
|
isolated CHD: TGA |
C0300 |
CNV |
TCTE3, ERMARD, LINC00242, LINC00574 |
|
isolated CHD: TGA |
C0301 |
CNV |
CAST, ERAP1 |
|
isolated CHD: TGA |
C0302 |
CNV |
BASP1P1, SGCG, SACS, SACS-AS1, LINC00327, TNFRSF19, MIPEP,
C1QTNF9B-AS1, ANKRD20A19P |
|
isolated CHD: TGA |
C0303 |
CNV |
PTPRN2, MIR5707, NCAPG2, ESYT2 |
|
isolated CHD: TGA |
C0304 |
CNV |
ACAD10, ALDH2, MIR6761, MAPKAPK5-AS1, MPKAPK5 |
|
isolated CHD: TGA |
C0305 |
CNV |
CHRNB3 |
|
isolated CHD: TGA |
C0306 |
CNV |
LOC339593, LINC00687, BTBD3, RP5-1069C8.2, LOC102606466,
LOC100505515, SPTLC3, ISM1, ISM1-AS1, TASP1, ESF1, NDUFAF5, SEL1L2,
MACROD2, FLRT3, MACROD2-IT1,
MACROD2-AS1, KIF16B, SNRPB2, OTOR,
PCSK2, BFSP1, DSTN, RRBP1, BANF2,
SNX5, SNORD17, MGME1, OVOL2,
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B,
LINC00493, DTD1, RP11-379J5.5,
LINC00652, LOC100270804, C20orf78,
SCP2D1, SLC24A3, RP5-1027G4.3, RIN2,
NAA20, CRNKL1, C20orf26, INSM1,
RALGAPA2, KIZ, RP4-777D9.2, XRN2,
NKX2-4, NKX2-2, LOC101929625,
LOC1019608, PAX1, RP11-125P18.1, RP5-
828K20.2, RP5-1004I9.1, LINC00261,
FOXA2, RP4-788L20.3, SSTR4, THBD,
CD93, LINC00656, NXT1, RP3-322G13.5,
GZF1, NAPB, CSTL1, CST11, CST8,
CST13P, CST9L, CST9, CST3, CST4,
CST1, CST2, CST5, GGTLC1, FLJ33581,
SYNDIG1, CST7, APMAP, ACSS1, VSX1,
RP4-738P15.1, LOC101926889, ENTPD6,
PYGB, ABHD12, GINS1, NINL, NANP,
ZNF337, FAM182B, LOC101926935 |
|
isolated CHD: TOF |
C0307 |
CNV |
CDK13 |
|
isolated CHD: CoA |
C0308 |
CNV |
STARD3, TCAP, PNMT, PGAP3, ERBB2,
MIR4728, MIEN1, GRB7, IKZF3, ZPBP2 |
|
isolated CHD: TOF |
C0309 |
CNV |
ASIC2, AA06, RP11-215E13.1, CCL2, CCL7 |
|
isolated CHD: TOF |
C0310 |
CNV |
EIF3B |
|
isolated CHD: TOF |
C0311 |
CNV |
LOC653486SCGB1C1, ODF3, BETIL1,
RIC8A, MIR6743, SIRT3, PSMD13, NLRP6,
ATHL1, IFITM5, IFITM2, IFITM1, IFITM3 |
|
isolated CHD: TOF |
C0312 |
CNV |
UGP2, VPS54, PELI1, LINC00309 |
|
isolated CHD: TOF |
C0313 |
CNV |
SFXN5, RAB11FIP5 |
|
isolated CHD: TOF |
C0314 |
CNV |
PVT1 |
|
isolated CHD: TOF |
C0315 |
CNV |
GUCA1C, MORC1, FLJ22763, LINC00488 |
|
isolated CHD: TOF |
C0316 |
CNV |
ENPP2, TAF2, DSCC1, DEPTOR,
COL14A1 |
|
isolated CHD: TOF |
C0317 |
CNV |
TENM1 |
|
isolated CHD: TOF |
C0318 |
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
|
isolated CHD: CoA |
C0319 |
CNV |
CSTF3-AS1, HIPK3 |
|
isolated CHD: TOF |
C0320 |
CNV |
AC073283.4, EPCAM, MIR559, MSH2,
KCNK12 |
|
isolated CHD: TOF |
C0321 |
CNV |
NCKAP5, MIR3679, MGAT5, TMEM163,
ACMSD, CCNT2-AS1, CCNT2, MAP3K19,
RAB3GAP1, ZRANB3, R3HDM1, MIR128-
1, UBXN4, LCT, LOC100507600, MCM6,
DARS, AC093391.2, CXCR4, THSD7B,
HNMT, SPOPL, NXPH2, YY1P2, LRP1B |
|
isolated CHD: TOF |
C0322 |
CNV |
NASP |
|
isolated CHD: TOF |
C0323 |
CNV |
RAD18, SRGAP3 |
|
isolated CHD: TOF |
C0324 |
CNV |
PKD1L2, BCMO1 |
|
isolated CHD: TOF |
C0325 |
CNV |
MCM3AP, YBEY, C21orf58, PCNT |
|
isolated CHD: TOF |
C0326 |
CNV |
NBPF20, NBPF10, PDZK1, GPR89A,
NBPF25P, GPR89C, PDZK1P, NBPF11,
NBPF12, LOC728989, NBPF13P, PRKAB2,
PDIA3P1, FMO5, CHD1L, LINC00624,
BCL9, ACP6, GJA5, GJA8, GPR89B,
PDZK1P1, NBPF8, NBPF11, MIR5087 |
|
isolated CHD: TOF |
C0327 |
CNV |
BIRC6, TTC27, MIR4765, LINC00486 |
|
isolated CHD: TOF |
C0328 |
CNV |
LINC00320, NCAM2, RNU6-67P,
LINC00317, AP000475.2, LINC00308 |
|
isolated CHD: TOF |
C0329 |
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
|
isolated CHD: CoA |
C0330 |
CNV |
CGNL1 |
|
isolated CHD: TOF |
C0331 |
CNV |
ART3, NUP54, SCARB2 |
|
isolated CHD: TOF |
C0332 |
CNV |
APBA2, FAM189A1, NDNL2, TJP1 |
|
isolated CHD: TOF |
C0333 |
CNV |
PTPRJ |
|
isolated CHD: TOF |
C0334 |
CNV |
RPRD2, TARS2, MIR6878, ECM1,
LINC00568, ADAMTSL4, MIR4257,
ADAMSTL4-AS1, MCL1, ENSA, GOLPH3L,
HORMAD1, CTSS, CTSK |
|
isolated CHD: TOF |
C0335 |
CNV |
DSG1, RP11-534N16.1, DSG4, DSG3 |
|
isolated CHD: TOF |
C0336 |
CNV |
PRPF4B, FAM217A, C6orf201, ECI2, RP3-
400B16.1, CDYL, RPP40 |
|
isolated CHD: TGA |
C0337 |
CNV |
MGAM |
|
isolated CHD: CoA |
C0338 |
CNV |
SDC1, PUM2 |
|
isolated CHD: CoA |
C0339 |
CNV |
FAM73A, NEXN-AS1, NEXN |
|
isolated CHD: CoA |
C0340 |
CNV |
LPHN2 |
|
isolated CHD: TGA |
C0341 |
CNV |
C16orf52, CDR2, EEF2K, NPIPB5, OTOA, PDZD9, POLR3E, UQCRC2, VWA3A |
|
isolated CHD: TGA |
C0342 |
CNV |
CXorf23, MAP7D2, SH3KBP1 |
|
isolated CHD: TGA |
C0343 |
CNV |
RERE |
|
isolated CHD: D-TGA |
C0344 |
CNV |
SLC8A1 |
|
isolated CHD: ccTGA |
C0345 |
CNV |
CCDC141 |
|
isolated CHD: ccTGA |
C0346 |
CNV |
IFT57 |
|
isolated CHD: D-TGA |
C0347 |
CNV |
LPP |
|
isolated CHD: D-TGA |
C0348 |
CNV |
LPP |
|
isolated CHD: D-TGA |
C0349 |
CNV |
RB1CC1 |
|
isolated CHD: D-TGA |
C0350 |
CNV |
NKX1-2, OAT |
|
isolated CHD: ccTGA |
C0351 |
CNV |
IQCJ-SCHIP1, SCHIP1 |
|
isolated CHD: TGA |
C0352 |
CNV |
NHS |
|
isolated CHD: D-TGA |
C0353 |
CNV |
ACKR3 |
|
isolated CHD: D-TGA |
C0354 |
CNV |
ITGB8 |
|
isolated CHD: D-TGA |
C0355 |
CNV |
NF1 |
|
isolated CHD: D-TGA |
C0356 |
CNV |
SOX18 |
|
isolated CHD: D-TGA |
C0357 |
CNV |
NA |
|
isolated CHD: TGA |
C0358 |
CNV |
MAGI2 |
|
isolated CHD: TGA |
C0359 |
CNV |
SGCZ |
|
isolated CHD: TGA |
C0360 |
CNV |
DDX51, EP400, GALNT9, MMP17, PUS1, NOC4L, SFSWAP, ULK1 |
|
isolated CHD: TGA |
C0361 |
CNV |
KL, STARD13 |
|
isolated CHD: TGA |
C0362 |
CNV |
RBFOX1 |
|
isolated CHD: TGA |
C0363 |
CNV |
ABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, MPV17L, MYH11,NDE1, NOMO3, NPIPA5, XYLT1 |
|
isolated CHD: TGA |
C0364 |
CNV |
NA |
|
isolated CHD: NA |
C0365 |
CNV |
NA |
|
isolated CHD: NA |
C0366 |
CNV |
NA |
|
isolated CHD: NA |
C0367 |
CNV |
NA |
|
isolated CHD: NA |
C0368 |
CNV |
NA |
|
isolated CHD: NA |
C0369 |
CNV |
NA |
|
isolated CHD: NA |
C0370 |
CNV |
NA |
|
isolated CHD: NA |
C0371 |
CNV |
NA |
|
isolated CHD: NA |
C0372 |
CNV |
NA |
|
isolated CHD: NA |
C0373 |
CNV |
NA |
|
isolated CHD: NA |
C0374 |
CNV |
NA |
|
isolated CHD: NA |
C0375 |
CNV |
NA |
|
isolated CHD: NA |
C0376 |
CNV |
NA |
|
isolated CHD: NA |
C0377 |
CNV |
NA |
|
isolated CHD: NA |
C0378 |
CNV |
NA |
|
isolated CHD: NA |
C0379 |
CNV |
NA |
|
isolated CHD: NA |
C0380 |
CNV |
NA |
|
isolated CHD: NA |
C0381 |
CNV |
NA |
|
isolated CHD: NA |
C0382 |
CNV |
NA |
|
isolated CHD: NA |
C0383 |
CNV |
NA |
|
isolated CHD: NA |
C0384 |
CNV |
NA |
|
isolated CHD: NA |
C0385 |
CNV |
NA |
|
isolated CHD: NA |
C0386 |
CNV |
NA |
|
isolated CHD: NA |
C0387 |
CNV |
NA |
|
isolated CHD: NA |
C0388 |
CNV |
NA |
|
isolated CHD: NA |
C0389 |
CNV |
NA |
|
isolated CHD: NA |
C0390 |
CNV |
NA |
|
isolated CHD: NA |
C0391 |
CNV |
NA |
|
isolated CHD: NA |
C0392 |
CNV |
NA |
|
isolated CHD: NA |
C0393 |
CNV |
NA |
|
isolated CHD: NA |
C0394 |
CNV |
NA |
|
isolated CHD: NA |
C0395 |
CNV |
NA |
|
isolated CHD: NA |
C0396 |
CNV |
NA |
|
isolated CHD: NA |
C0397 |
CNV |
NA |
|
isolated CHD: NA |
C0398 |
CNV |
NA |
|
isolated CHD: NA |
C0399 |
CNV |
NA |
|
isolated CHD: NA |
C0400 |
CNV |
NA |
|
isolated CHD: NA |
C0401 |
CNV |
NA |
|
isolated CHD: NA |
C0402 |
CNV |
NA |
|
isolated CHD: NA |
C0403 |
CNV |
NA |
|
isolated CHD: NA |
C0404 |
CNV |
NA |
|
isolated CHD: NA |
C0405 |
CNV |
NA |
|
isolated CHD: NA |
C0406 |
CNV |
NA |
|
isolated CHD: NA |
C0407 |
CNV |
NA |
|
isolated CHD: NA |
C0408 |
CNV |
NA |
|
isolated CHD: NA |
C0409 |
CNV |
NA |
|
isolated CHD: NA |
C0410 |
CNV |
NA |
|
isolated CHD: NA |
C0411 |
CNV |
NA |
|
isolated CHD: NA |
C0412 |
CNV |
NA |
|
isolated CHD: NA |
C0413 |
CNV |
NA |
|
isolated CHD: NA |
C0414 |
CNV |
NA |
|
isolated CHD: NA |
C0415 |
CNV |
NA |
|
isolated CHD: NA |
C0416 |
CNV |
NA |
|
isolated CHD: NA |
C0417 |
CNV |
NA |
NA |
isolated CHD: NA |
C0418 |
CNV |
BMP5 |
|
isolated CHD: VSD |
C0419 |
CNV |
MYH11, NDE1 |
|
isolated CHD: VSD |
C0420 |
CNV |
ATP2C2, WFDC1 |
|
isolated CHD: VSD |
C0421 |
CNV |
ACOX3, C4orf23, HTRA3, SH3TC1 |
|
non-isolated CHD: VSD, ASD |
C0422 |
CNV |
CACNG3, CHP2, PLK1, PRKCB, XYLT1 |
|
non-isolated CHD: VSD, ASD |
C0423 |
CNV |
XKRX |
|
non-isolated CHD: VSD, ASD, PDA, PAH |
C0424 |
CNV |
NBEA |
|
non-isolated CHD: VSD, PDA, PFO |
C0425 |
CNV |
MAGEC1, MAGEC2, MAGEC3 |
|
non-isolated CHD: VSD, PDA, PFO |
C0426 |
CNV |
KIF16B |
|
isolated CHD: VSD |
C0427 |
CNV |
OCA2 |
|
isolated CHD: VSD |
C0428 |
CNV |
MCTP2 |
|
isolated CHD: VSD |
C0429 |
CNV |
XRCC5 |
|
isolated CHD: VSD |
C0430 |
CNV |
AOAH |
|
isolated CHD: VSD |
C0431 |
CNV |
C14orf184, CATSPERB |
|
isolated CHD: VSD |
C0432 |
CNV |
RGS21 |
|
isolated CHD: VSD |
C0433 |
CNV |
EN1 |
|
non-isolated CHD: VSD, PFO, PAH |
C0434 |
CNV |
CALN1 |
|
isolated CHD: VSD |
C0435 |
CNV |
FRMD3, RASEF |
|
non-isolated CHD: ASD, PS |
C0436 |
CNV |
AASS, CADPS2, FEZF1, PTPRZ1 |
|
isolated CHD: VSD |
C0437 |
CNV |
FAM3B, MX2, MX1 |
|
isolated CHD: VSD |
C0438 |
CNV |
EGFL6 |
|
non-isolated CHD: VSD, PDA, ASD, PFO |
C0439 |
CNV |
IGFBP7, LOC255130 |
|
isolated CHD: VSD |
C0440 |
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
|
isolated CHD: TGA |
C0441 |
CNV |
LBX1 |
|
isolated CHD: VSD |
C0442 |
CNV |
TBC1D23 |
|
isolated CHD: VSD |
C0443 |
CNV |
GOLGA4, C3ORF35, ITGA9 |
|
isolated CHD: ASD |
C0444 |
CNV |
SOX2, MAP3K13, BCL6, TP63, FGF12 |
|
isolated CHD: ASD |
C0445 |
CNV |
CASP3, ING2, PDLIM3, SLC25A4, F11 |
|
isolated CHD: ASD |
C0446 |
CNV |
PAX3 |
|
isolated CHD: VSD |
C0447 |
CNV |
KIAA2022, ABCB7 |
|
isolated CHD: VSD |
C0448 |
CNV |
CYSLTR1, GPR174, LPAR4, P2RY10 |
|
isolated CHD: VSD |
C0449 |
CNV |
CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) |
|
isolated CHD: EA |
C0450 |
CNV |
MYOZ2, RP11-455G16.1, USP53 |
|
isolated CHD: EA |
C0451 |
CNV |
CYP4V2, F11, FAM149A, KLKB1 |
|
isolated CHD: EA |
C0452 |
CNV |
CTC-(551A13.2), WDR36 |
|
isolated CHD: EA |
C0453 |
CNV |
SLC35F1 |
|
isolated CHD: EA |
C0454 |
CNV |
RP11(307P5.1), RP11(307P5.2) |
|
isolated CHD: EA |
C0455 |
CNV |
CTD-(2272D18.1), RP11-(731N10.1) |
|
isolated CHD: EA |
C0456 |
CNV |
SPIDR |
|
isolated CHD: EA |
C0457 |
CNV |
CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) |
|
isolated CHD: EA |
C0458 |
CNV |
SORCS1 |
|
isolated CHD: EA |
C0459 |
CNV |
AP000439.1, AP000439.2, AP000439.3, AP000439.5 |
|
isolated CHD: EA |
C0460 |
CNV |
C2CD5, RP11(359J14.2) |
|
isolated CHD: EA |
C0461 |
CNV |
DIP2B |
|
isolated CHD: EA |
C0462 |
CNV |
NA |
|
isolated CHD: EA |
C0463 |
CNV |
KIF17 |
|
isolated CHD: EA |
C0464 |
CNV |
LMO7, RP11(29G8.3) |
|
isolated CHD: EA |
C0465 |
CNV |
C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11
(473I1.9); RP11(77H9.8); USP7 |
|
isolated CHD: EA |
C0466 |
CNV |
RP11(309M23.1) |
|
isolated CHD: EA |
C0467 |
CNV |
DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P |
|
isolated CHD: EA |
C0468 |
CNV |
NA |
|
isolated CHD: EA |
C0469 |
CNV |
ARTN, IPO13, RP11-(G19617O11.3), ST3GAL3 |
NA |
isolated CHD: EA |
C0470 |
CNV |
CCDC17, GPBP1L1, NASP |
NA |
isolated CHD: EA |
C0471 |
CNV |
LCLAT1 |
NA |
isolated CHD: EA |
C0472 |
CNV |
BMPR2, CARF, FAM117B, ICA1L, NOP58, RN7SL40P, RN7SL753P
RP11-686O6.1;RP11-686O6.2;WDR12 |
NA |
isolated CHD: EA |
C0473 |
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
non-isolated CHD: TOF, PFO, RAA |
C0474 |
CNV |
TBC1D3B, CCL3L1, CCL4L2, TBC1D3C, TBC1D3H, TBC1D3G, PIGW, GGNBP2, LHX1, AATF, ACACA, DUSP14, DDX52, HNF1B, CCL3L3, CCL4L1, ZNHIT3,MYO19, DHRS11, MRM1, MIR2909, C17orf78,TADA2A, SYNRG |
NA |
non-isolated CHD: TOF, PFO, DAA |
C0475 |
CNV |
NOC2L, HES4, ISG15, AGRN, MIR200B, MIR200A, MIR429, TNFRSF18, TNFRSF4, SCNN1D, TAS1R3, DVL1,
MRPL20, VWA1, ATAD3B, ATAD3A, MMP23B, MMP23A, NADK, GNB1, CALML6, GABRD, PRKCZ, SKI, PEX10,
PLCH2, PANK4, HES5, TNFRSF14, ACTRT2, PRDM16, MEGF6, WDR8, TP73, DFFB, AJAP1, NPHP4, KCNAB2,
CHD5, RPL22, ICMT, HES3, ACOT7, HES2, ESPN, TNFRSF25, PLEKHG5, TAS1R1, FLJ39609, SAMD11, KLHL17,
PLEKHN1, Clorf170, LOC401934, Clorf159, TTLL10, SDF4, B3GALT6, FAM132A, UBE2J2, ACAP3, PUSL1,
CPSF3L, GLTPD1, MXRA8, AURKAIP1, CCNL2, LOC148413, LOC441869, TMEM88B, ATAD3C, Clorf70, SSU72,
MIB2, CDK11B, SLC35E2B, CDK11A, SLC35E2, TMEM52, KIAA1751, Clorf86, LOC100128003, MORN1,LOC100129534, RER1, LOC115110, LOC100133445, Clorf93, MMEL1, FLJ42875, MIR4251, ARHGEF16,
MIR551A, TPRG1L, KIAA0495, CCDC27, LOC388588, LRRC47, KIAA0562, Clorf174, LOC100133612,
LOC284661, RNF207, GPR153, MIR4252, NOL9, ZBTB48 |
NA |
non-isolated CHD: TOF, DORV, PDA, PFO |
C0476 |
CNV |
AEBP2; SYNE2, ESR2, TEX21P, MTHFD1 |
NA |
non-isolated CHD: TOF, ASD |
C0477 |
CNV |
NA |
NA |
non-isolated CHD: TOF, ASD |
C0478 |
CNV |
FMO5, CHD1L, BCL9, GJA5, GJA8, GPR89B, LOC728989, PRKAB2, PDIA3P, ACP6, GPR89C,
PDZK1P1, NBPF11, NBPF24 |
NA |
non-isolated CHD: TOF, PFO |
C0479 |
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
non-isolated CHD: TOF, PFO, congenital pericardial defect |
C0480 |
CNV |
RHOU |
NA |
non-isolated CHD: TOF, PFO |
C0481 |
CNV |
SHCBP1, VPS35, ORC6, MYLK3, ANKRD26P1 |
NA |
non-isolated CHD: TOF, PFO |
C0482 |
CNV |
FOXF1, FOXC2, FOXL1, LOC400550, MTHFSD, FLJ30679 |
NA |
non-isolated CHD: TOF, PFO |
C0483 |
CNV |
NA |
NA |
non-isolated CHD: TOF, PLSVC |
C0484 |
CNV |
PRODH, DGCR2, TSSK2, SLC25A1, CLTCL1, HIRA, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, TXNRD2, COMT, ARVCF, DGCR8, TRMT2A, ZDHHC8, RTN4R, DGCR6L, RIMBP3, ZNF74, PI4KA, SERPIND1, SNAP29, CRKL, LZTR1, SLC7A4, DGCR5, DGCR9, DGCR10, DGCR11, DGCR14, GSC2, MRPL40, C22orf39, CDC45, LOC150185, SEPT5-GP1BB, C22orf29, C22orf25, MIR185, MIR3618, MIR1306, RANBP1, LOC150197,MIR1286, PI4KAP1, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, AIFM3, THAP7, FLJ39582,
MGC16703, P2RX6, P2RX6P, LOC400891 |
NA |
isolated CHD: TOF |
C0485 |
CNV |
NA |
|
isolated CHD: RLBV |
C0486 |
CNV |
NA |
|
isolated CHD: RLBV |
C0487 |
CNV |
GJA5 |
|
isolated CHD: TOF |
C0488 |
CNV |
GJA5 |
|
isolated CHD: TOF |
C0489 |
CNV |
GJA5 |
|
isolated CHD: TOF |
C0490 |
CNV |
PRKD1,ATG5, AIM1, RTN4IP1,
QRSL1, C6orf203, BEND3 and PDSS2 |
|
non-isolated CHD: TA, SV SD with OA |
C0491 |
CNV |
NA |
NA |
isolated CHD: TOF |
C0492 |
CNV |
NA |
NA |
isolated CHD: PA/VSD |
C0493 |
CNV |
NA |
NA |
isolated CHD: PTA |
C0494 |
CNV |
NA |
NA |
isolated CHD: DORV |
C0495 |
CNV |
NA |
NA |
isolated CHD: TGA |
C0496 |
CNV |
NA |
NA |
isolated CHD: TA |
C0497 |
CNV |
NA |
NA |
isolated CHD: IAA |
C0498 |
CNV |
NA |
NA |
isolated CHD: SA/SV |
C0499 |
CNV |
NA |
NA |
isolated CHD: ASD |
C0500 |
CNV |
NA |
NA |
isolated CHD: TAPVC |
C0501 |
CNV |
NA |
NA |
isolated CHD: PAPVC |
C0502 |
CNV |
NA |
NA |
isolated CHD: SAS |
C0503 |
CNV |
NA |
NA |
isolated CHD: CoA |
C0504 |
CNV |
NA |
NA |
isolated CHD: other |
C0505 |
CNV |
N/A |
chr1: g.180143425_180257907dup |
isolated CHD: TGA |
C0506 |
CNV |
N/A |
chr4: g.102831284_103033486del |
isolated CHD: TA |
C0507 |
CNV |
N/A |
chr4: g.146444570_146930543dup |
isolated CHD: Shone's Complex |
C0508 |
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
C0509 |
CNV |
ITGB1, NRP1, PARD3 |
chr10: g.32686908_34498716del |
isolated CHD: TOF |
C0510 |
CNV |
REPS2, NHS, MIR4768 |
chrXp22.2-p22.13: g.16985921_17729022dup |
isolated CHD: LC-RV fistula |
C0511 |
CNV |
HDHD1, STS, VCX,
PNPLA4,MIR4767 |
chrX: p22.31: g.6460521_8053641del |
isolated CHD: VSD |
C0512 |
CNV |
N/A |
|
isolated CHD: TAPVC |
C0513 |
CNV |
PRY, BPY2, DAZ1, DAZ2, CDY1B, LOC100996911, BPY2B, DAZ3, DAZ4, BPY2C, LOC101929235, LOC107987351, CDY1 |
chrY: g.24985261_28438826dup |
non-isolated CHD: TOF, ASD |
C0514 |
CNV |
FTO, RPGRIP1L |
chr16: g.53730151_53963891del |
non-isolated CHD: VSD, CoA |
C0515 |
CNV |
MAN2A1, TMEM232, SLC25A46
TSLP WDR36 CAMK4 FAXC PNISR |
chr5: g.109071623_110627810dup |
non-isolated CHD: DORV, VSD |
C0516 |
CNV |
USP45, CCNC, DM13, COQ3 |
chr6: g.99659801_100270433del |
non-isolated CHD: DORV, VSD |
C0517 |
CNV |
NBPF8,NBPF14,NBPF15,NBPF9,PPIAL4D |
chr1: g.148016135_148575302del |
non-isolated CHD: CoA, VSD |
C0518 |
CNV |
GABRG2 |
chr5: g.161536927_161681285dup |
non-isolated CHD: TOF, ASD |
C0519 |
CNV |
IGHE,IGHG1,IGHD,ADAM6,ELK2AP,FAM30A |
chr14: g.106072250_107152784dup |
isolated CHD: MI, TI |
C0520 |
CNV |
N/A |
NA |
isolated CHD: ASD |
C0521 |
CNV |
N/A |
NA |
isolated CHD: ASD |
C0522 |
CNV |
N/A |
NA |
isolated CHD: Valvular AS |
C0523 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0524 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0525 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0526 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
C0527 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
C0528 |
CNV |
N/A |
NA |
non-isolated CHD: SVAS, PPS |
C0529 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0530 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0531 |
CNV |
N/A |
NA |
isolated CHD: SVAS |
C0532 |
CNV |
NBPF15, NBPF16, PPIAL4E, PPIAL4D, PPIAL4F, LOC645166, LOC388692, FCGR1C, HIST2H2BF, PPIAL4A, PPIAL4C, PPIAL4B, FAM91A2, LOC728855 |
GRCh37 chr1: g.148515220_149741175dup |
isolated CHD: TOF |
C0533 |
CNV |
NBPF15, NBPF16, PPIAL4E, PPIAL4D, PPIAL4F, LOC645166, LOC388692, FCGR1C, HIST2H2BF, PPIAL4A, PPIAL4C, PPIAL4B, FAM91A2, LOC728855 |
GRCh37 chr1: g.148515220_149741175dup |
isolated CHD/complex CHD: NA |
C0534 |
CNV |
TSNAX-DISC1, DISC1 |
GRCh37 chr1: g.231828116_231928554del |
isolated CHD: ASD/VSD |
C0536 |
CNV |
NPHP1, LINC00116, LOC100507334, MIR4436B2, MIR4436B1, LOC151009, LOC440894, LOC440895, LOC100288570, LIMS3-LOC440895, LIMS3, LIMS3L, RGPD6, RGPD5 |
GRCh37 chr2: g.110874326_111369233dup |
isolated CHD: TOF |
C0537 |
CNV |
CNTN4, CNTN4-AS2 |
GRCh37 chr3: g.1614980_2383336dup |
isolated CHD: ASD/VSD |
C0539 |
CNV |
NA |
GRCh37 chr7: g.72718277_74142190del |
isolated CHD: ASD/VSD |
C0541 |
CNV |
FNTA, SGK196, HGSNAT, POTEA |
GRCh37 chr8: g.42935729_46923289dup |
isolated CHD: ASD/VSD |
C0543 |
CNV |
C9orf66, DOCK8 |
GRCh37 chr9: g.203861_354913dup |
isolated CHD: ASD/VSD |
C0544 |
CNV |
LOC643650, LOC728643, ANXA8, ANXA8L1, FAM25B, FAM25G, FAM25C, AGAP9, BMS1P6, BMS1P2, FAM35B2, ANTXRL, ANXA8L2, FAM21B, CTSL1P2 |
GRCh37 chr10: g.47090537_48179757dup |
isolated CHD: ASD/VSD |
C0545 |
CNV |
CTNNA3 |
GRCh37 chr10: g.68186265_68317814del |
isolated CHD: ASD/VSD |
C0548 |
CNV |
PUS1, EP400, SNORA49, EP400NL, DDX51, NOC4L |
GRCh37 chr12: g.132422717_132666263del |
isolated CHD: ASD/VSD |
C0549 |
CNV |
NA |
NA |
isolated CHD: ASD/VSD |
C0550 |
CNV |
TUBGCP5, CYFIP1, NIPA2, NIPA1, LOC283683, WHAMMP3 |
GRCh37 chr15: g.22770421_23191761del |
isolated CHD/complex CHD: NA |
C0551 |
CNV |
CHRNA7 |
GRCh37 chr15: g.31975318_32400912dup |
isolated CHD: ASD/VSD |
C0553 |
CNV |
HERC2P4, LOC729264, LOC390705, TP53TG3B, TP53TG3, TP53TG3C, SLC6A10P, RNU6-76 |
GRCh37 chr16: g.32046521_33783272dup |
isolated CHD: TOF |
C0554 |
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: ASD/VSD |
C0556 |
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: TOF |
C0559 |
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: ASD/VSD |
C0562 |
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: TOF |
C0563 |
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD/complex CHD: NA |
C0564 |
CNV |
CDH19 |
GRCh37 chr18: g.64264933_64504466del |
isolated CHD: ASD/VSD |
C0565 |
CNV |
FSTL3, PRSS57, PALM, C19orf21, PTBP1, MIR4745, LPPR3, MIR3187, AZU1, PRTN3, ELANE, CFD, MED16, R3HDM4, KISS1R, ARID3A, WDR18, GRIN3B, C19orf6, CNN2, ABCA7, HMHA1, POLR2E, GPX4, SBNO2, STK11 |
GRCh37 chr19: g.678146_1227017dup |
isolated CHD: TOF |
C0566 |
CNV |
PLCB1 |
GRCh37 chr20: g.8102836_8569743dup |
isolated CHD: TOF |
C0567 |
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, LOC150185, SEPT5, SEPT5-GP1BB, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, MIR4761, ARVCF, C22orf25, MIR185, DGCR8, MIR3618, MIR1306, TRMT2A, RANBP1, ZDHHC8, LOC388849, LOC284865, LOC150197, RTN4R, MIR1286, DGCR6L, LOC729444, TMEM191B, PI4KAP1, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, THAP7-AS1, TUBA3FP, P2RX6, SLC7A4, P2RX6P, LOC400891, BCRP2, POM121L8P, RIMBP3C, RIMBP3B, HIC2 |
GRCh37 chr22: g.18644790_21798907del |
isolated CHD: ASD/VSD |
C0568 |
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2 |
GRCh37 chr22: g.18649166_19024659dup |
isolated CHD: ASD/VSD |
C0569 |
CNV |
IGLL3P, LRP5L, CRYBB2P1, ADRBK2 |
GRCh37 chr22: g.25656237_26007508dup |
isolated CHD: ASD/VSD |
C0572 |
CNV |
IGLL3P, LRP5L, CRYBB2P1 |
GRCh37 chr22: g.25656218_25925187del |
isolated CHD: ASD/VSD |
C0577 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: APVR |
C0578 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: VSD |
C0579 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: TOF |
C0580 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: ASD |
C0581 |
CNV |
MIR548AI, PRKD1 |
GRCh37 chr14: g.29904720_30316660dup |
isolated CHD: VSD |
C0582 |
CNV |
USP34 |
GRCh37 chr2: g.61567864_61568645del |
isolated CHD: AS |
C0583 |
CNV |
CNTN6 |
GRCh37 chr3: g.1145284_1237776del |
isolated CHD: VSD |
C0585 |
CNV |
C1orf101, DESI2 |
GRCh37 chr1: g.244744915_244828276del |
isolated CHD: HLHS |
C0586 |
CNV |
ATG7, VGLL4 |
GRCh37 chr3: g.11393089_11618468del |
isolated CHD: ASD |
C0587 |
CNV |
PDSS2, SOBP |
GRCh37 chr6: g.107461798_107814267del |
isolated CHD: VSD |
C0588 |
CNV |
IRF4, EXOC2, HUS1B |
GRCh37 chr6: g.366332_771504del |
isolated CHD: VSD |
C0589 |
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr16: g.2312956_2353159del |
isolated CHD: ASD |
C0590 |
CNV |
ANKRD11, LOC101927817,SPG7, RPL13, SNORD68,CPNE7 |
GRCh37 chr16: g.89475450_89652148del |
isolated CHD: AVC |
C0591 |
CNV |
GART, SON, MIR6501,DONSON, CRYZL1, ITSN1 |
GRCh37 chr21: g.34886796_35051669del |
isolated CHD: ASD |
C0592 |
CNV |
SCCPDH, LINC01341,AHCTF1, ZNF695,ZNF670-ZNF695 |
GRCh37 chr1: g.246839121_247179291del |
isolated CHD: VSD |
C0593 |
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr17: g.43868982_44378247del |
non-isolated CHD: ASD, VSD |
C0594 |
CNV |
PNPLA7, MRPL41, DPH7,ZMYND19, ARRDC1,ARRDC1-AS1, EHMT1 |
GRCh37 chr9: g.140403363_140596152del |
non-isolated CHD: ASD, CoA |
C0595 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
C0596 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
C0597 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: TOF |
C0598 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: AVC |
C0599 |
CNV |
26 genes |
GRCh37 chr19: g.16517519_17477318del |
isolated CHD: TOF |
C0600 |
CNV |
40 genes |
GRCh37 chr19: g.259395_1144343del |
isolated CHD: ASD |
C0655 |
CNV |
PRKAB2 |
NA |
isolated CHD: TOF |
C0656 |
CNV |
PRKAB2 |
NA |
isolated CHD: VSD |
C0657 |
CNV |
PPM1K |
NA |
isolated CHD: VSD |
M0007 |
Methylation |
CITED2 |
Methylation of CITED2 (-10 bp ~ -360 bp) |
isolated CHD: ASD |
M0008 |
Methylation |
CITED2 |
Methylation of CITED2 (-971 bp ~ -1171 bp) |
isolated CHD: ASD |
M0009 |
Methylation |
BRG1 |
Methylation of BRG1 (region 5) |
isolated CHD: NA |
M0010 |
Methylation |
BRG1 |
Methylation of BRG1 (region 15) |
isolated CHD: NA |
M0011 |
Methylation |
BRG1 |
Methylation of BRG1 (region 29) |
isolated CHD: NA |
M0012 |
Methylation |
BRG1 |
Methylation of BRG1 (region 34) |
isolated CHD: NA |
M0013 |
Methylation |
MTR |
Methylation of MTR |
NA: NA |
M0014 |
Methylation |
MTR |
Methylation of MTR |
NA: NA |
M0016 |
Methylation |
ZIC3 |
Methylation of ZIC3 (Xq26.3) |
isolated CHD: DORV |
M0017 |
Methylation |
NR2F2 |
Methylation of NR2F2 (15q26.2) |
isolated CHD: DORV |
O0001 |
Others |
chr 21
|
trisomy 21(mosaic)
|
isolated CHD: CoA |
O0003 |
Others |
Trip(UCS) |
Trip(UCS) |
isolated CHD: TAPVR |
O0004 |
Others |
UPD |
NA |
isolated CHD: TAPVR |
O0005 |
Others |
chr X |
47, XXX |
isolated CHD: TAPVR |
O0006 |
Others |
chr 21
|
trisomy 21 |
isolated CHD: NA |
O0007 |
Others |
chr7, chr9 |
46,XX,t(7;9)(q12;q21) |
non-isolated CHD: IAA, VSD |
O0008 |
Others |
NA |
NA |
non-isolated CHD: AVS, MVS, AF, VF |
O0009 |
Others |
NA |
NA |
non-isolated CHD: AVS, VF |
O0010 |
Others |
NOTCH1 |
NA |
non-isolated CHD: Thickened aortic valves, AF, LV |
O0013 |
Others |
NOTCH1 |
NA |
NA: NA, AVR |
O0016 |
Others |
chr 14 |
ring chromosome 14 |
non-isolated CHD: ASD, PDA |
O0017 |
Others |
chr 8 |
46,XY,der(8)del(8)(p23.2)invdup(8)(p22p23.2) |
isolated CHD: RLBV |