|
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 |
|
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 |
|
V0021 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PVS |
|
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 |
|
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 |
|
V0038 |
Small Variation |
MS |
NA |
isolated CHD: ASD |
|
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 |
|
V0053 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: PAD |
|
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 |
|
V0062 |
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
V0064 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0084 |
Small Variation |
GATA4 |
NM_002052.5:c.579C>G |
non-isolated CHD: SV, ASD |
|
V0087 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
isolated CHD: DORV |
|
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 |
|
V0095 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
|
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 |
|
V0103 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: ECD |
|
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 |
|
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 |
|
V0131 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
V0133 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: AVSD |
|
V0134 |
Small Variation |
NKX2-5 |
NM_004387.4:c.543G>A |
isolated CHD: ASD |
|
V0135 |
Small Variation |
NKX2-5 |
NM_004387.4:c.852C>G |
isolated CHD: ASD |
|
V0138 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD/VSD/TOF/TAPVC/ECD/D-TGA |
|
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 |
|
V0144 |
Small Variation |
MIR196A2 |
NR_029617.1:n.78C>T |
NA: NA |
|
V0146 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: ASD |
|
V0148 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: PS |
|
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 |
|
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 |
|
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 |
|
V0183 |
Small Variation |
GATA6 |
NM_005257.5:c.740C>T |
isolated CHD: U-AVSD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V0227 |
Small Variation |
GATA4 |
NM_002052.5:c.348C>T |
isolated CHD: ASD |
|
V0228 |
Small Variation |
GATA4 |
NM_002052.5:c.405C>G |
non-isolated CHD: TOF, ASD, VSD |
|
V0229 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
non-isolated CHD: TGA, VSD |
|
V0231 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
V0259 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
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 |
|
V0267 |
Small Variation |
TBX5 |
NM_000192.3:c.331G>T |
non-isolated CHD: DORV, VSD, ASD, PDA |
|
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 |
|
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 |
|
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(BAI2) |
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(KIAA1797) |
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 |
|
V0347 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V0350 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0379 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
|
V0381 |
Small Variation |
GJA5 |
NM_005266.6:c.793C>T |
non-isolated CHD: TOF, PS |
|
V0388 |
Small Variation |
TLL1 |
NM_001204760.2:c.60_61insA |
isolated CHD: ASD |
|
V0409 |
Small Variation |
GATA4 |
NM_002052.5:c.-156G>A |
isolated CHD: ASD |
|
V0411 |
Small Variation |
GATA4 |
NM_002052.5:c.-110A>G |
non-isolated CHD: PDA, VSD |
|
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 |
|
V0427 |
Small Variation |
TFAP2B |
NM_003221.4:c.31A>G |
isolated CHD: ECD |
|
V0429 |
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: ASD |
|
V0432 |
Small Variation |
TFAP2B |
NM_003221.4:c.821+86C>T |
isolated CHD: ASD |
|
V0434 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: PTA |
|
V0436 |
Small Variation |
GATA5 |
NM_080473.5:c.595C>G |
non-isolated CHD: VSD, AS |
|
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 |
|
V0443 |
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V0445 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V0447 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: non-CTD |
|
V0449 |
Small Variation |
GDF1 |
NC_000019.10:g.18879050G>A |
isolated CHD: non-CTD |
|
V0453 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
non-isolated CHD: PA, IVS |
|
V0458 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AP window |
|
V0461 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: AVSD |
|
V0479 |
Small Variation |
MYH7 |
NM_000257.4:c.2010_2031inv |
non-isolated CHD: LVNC, VSD |
|
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 |
|
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 |
|
V0491 |
Small Variation |
ZIC3 |
NM_003413.4:c.49G>T |
isolated CHD: DORV |
|
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 |
|
V0499 |
Small Variation |
GATA4 |
NM_001308093.1:c.196G>A |
non-isolated CHD: PDA, VSD |
|
V0502 |
Small Variation |
GATA4 |
NM_001308093.1:c.531C>A |
non-isolated CHD: VSD, PAH |
|
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 |
|
V0513 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: ASD |
|
V0520 |
Small Variation |
GATA4 |
NM_001308093.1:c.1123G>A |
non-isolated CHD: VSD, PDA |
|
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 |
|
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 |
PITX2c |
NM_000325.6:c.294C>A |
isolated CHD: ASD |
|
V0550 |
Small Variation |
PITX2c |
NM_000325.6:c.356T>C |
isolated CHD: ASD |
|
V0553 |
Small Variation |
GATA4 |
NM_001308093.1:c.151C>G |
non-isolated CHD: TOF, ASD |
|
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 |
|
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 |
|
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: other |
|
V0597 |
Small Variation |
PITX2c |
NM_000325.6:c.441G>A |
non-isolated CHD: VSD, DORV |
|
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 |
|
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 |
|
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: LVOT |
|
V0614 |
Small Variation |
NOTCH1 |
NG_007458.1,:g.39335G>A |
isolated CHD: LVOT |
|
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 |
|
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 |
|
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 |
|
V0674 |
Small Variation |
DLC1 |
NM_006094.5:c.797G>A |
non-isolated CHD: VSD, PFO |
|
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 |
|
V0687 |
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V0710 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD/VSD/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 |
|
V0716 |
Small Variation |
PITX2c |
NM_000325.6:c.272G>A |
non-isolated CHD: TGA, VSD |
|
V0718 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
V0747 |
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: ASD |
|
V0749 |
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: ASD |
|
V0751 |
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0815 |
Small Variation |
NKX2.6 |
NM_001136271.2:c.529A>T |
non-isolated CHD: DORV, VSD |
|
V0818 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
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 |
|
V0824 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V0828 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V0832 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
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 |
|
V0870 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
isolated CHD: ASD |
|
V0886 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: ASD |
|
V0889 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
isolated CHD: ASD |
|
V0892 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0906 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: ASD |
|
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 |
|
V0915 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
non-isolated CHD: PTA, VSD |
|
V0916 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
non-isolated CHD: PA, VSD, MAPCA |
|
V0917 |
Small Variation |
NOTCH1 |
NM_017617.5:c.(598G>C) |
isolated CHD: ALCAPA |
|
V0926 |
Small Variation |
TBX20 |
NM_001077653.2:c.400G>T |
non-isolated CHD: DORV, VSD |
|
V0927 |
Small Variation |
TBX20 |
NM_001077653.2:c.400G>T |
isolated CHD: DORV |
|
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 |
|
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 |
|
V0953 |
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1028 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: SV |
|
V1031 |
Small Variation |
ACE(Angiotensin-converting enzyme)
|
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS |
|
V1032 |
Small Variation |
ACE(Angiotensin-converting enzyme)
|
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS |
|
V1033 |
Small Variation |
ACE(Angiotensin-converting enzyme)
|
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS |
|
V1034 |
Small Variation |
ACE(Angiotensin-converting enzyme)
|
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS |
|
V1035 |
Small Variation |
ACE(Angiotensin-converting enzyme)
|
NA |
isolated CHD: ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS |
|
V1038 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
V1062 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
non-isolated CHD: SV, PS |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1109 |
Small Variation |
NKX2-5 |
NM_004387.4:c.112delG |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1179 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
|
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 |
|
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 |
|
V1209 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: ASD |
|
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(miRN/A) |
NC_000008.11:g.11759996C>G |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1226 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: ASD |
|
V1228 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
non-isolated CHD: ASD, PS |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1288 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1342 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
non-isolated CHD: PA, VSD |
|
V1343 |
Small Variation |
GATA4 |
NM_001308093.1:c.487C>T |
non-isolated CHD: SA, SV |
|
V1345 |
Small Variation |
GATA4 |
NM_001308093.1:c.487C>T |
isolated CHD: TGA |
|
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 |
|
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 |
|
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 |
|
V1364 |
Small Variation |
GATA4 |
NM_001308093.1:c.617-64G>C |
non-isolated CHD: PA, VSD |
|
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 |
|
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 |
|
V1376 |
Small Variation |
JAG1 |
NM_000214.3:c.1511A>G |
non-isolated CHD: TOF, PFO |
|
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 |
|
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 |
|
V1390 |
Small Variation |
ZFPM2 |
NM_012082.4:c.3442G>A |
non-isolated CHD: TOF, PFO |
|
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 |
|
V1423 |
Small Variation |
KCNQ1 |
NM_000218.3:c.(1768G>A) |
non-isolated CHD: PS, hypoplastic RV, Long ST/QT |
|
V1425 |
Small Variation |
KCNQ1 |
NM_000218.3:c.(569G>A) |
non-isolated CHD: TA, VSD, NRGV |
|
V1426 |
Small Variation |
KCNQ1 |
NM_000218.3:N/A |
non-isolated CHD: VSD, EA, bic AOV |
|
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 |
|
V1433 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: ASD |
|
V1436 |
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
non-isolated CHD: TOF, ASD |
|
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 |
|
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 |
|
V1495 |
Small Variation |
NKX2-5 |
NM_004387.4:c.[63A>G;606G>C;*61G>T;705G>C] |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1543 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1545 |
Small Variation |
GDF1 |
NC_000019.10:g.18877857T>C |
isolated CHD: non-CTD |
|
V1547 |
Small Variation |
GDF1 |
NC_000019.10:g.18874034G>A |
isolated CHD: non-CTD |
|
V1553 |
Small Variation |
GDF1 |
NG_012070.1:g.[27111C>T;23288A>G;22634A>G;22095C>T] |
isolated CHD/non-isolated CHD: NA |
|
V1555 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: NA/LSOD/SD/PDA/other |
|
V1556 |
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: ASD |
|
V1557 |
Small Variation |
RTN4 |
AY102279.1:g.4548_4554insCAA |
isolated CHD: ASD |
|
V1558 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
V1583 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: PAD |
|
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 |
|
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 |
|
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(Angiotensin-converting enzyme)
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1664 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1687 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1766 |
Small Variation |
MYH6 |
NM_002471.3:c.5477G>A |
isolated CHD: AS |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1849 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: ASD |
|
V1852 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: ASD |
|
V1855 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: ASD |
|
V1857 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1858 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1859 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PFO |
|
V1860 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PFO |
|
V1861 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V1862 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V1867 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1868 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1869 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, PDA |
|
V1870 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, PDA |
|
V1871 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PFO |
|
V1872 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PFO |
|
V1873 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PFO |
|
V1874 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PFO |
|
V1880 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1881 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1882 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V1883 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V1884 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1885 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1886 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, PDA |
|
V1887 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, PDA |
|
V1892 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: VSD, TOF |
|
V1893 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: VSD, TOF |
|
V1894 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
non-isolated CHD: VSD, TOF |
|
V1895 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
non-isolated CHD: VSD, TOF |
|
V1896 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1897 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1898 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
isolated CHD: ASD |
|
V1899 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: ASD |
|
V1900 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1901 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1902 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, PDA |
|
V1903 |
Small Variation |
GATA4 |
NG_008177.2:g.78343G>R |
non-isolated CHD: ASD, PDA |
|
V1904 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD, PDA |
|
V1905 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD, PDA |
|
V1906 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD, PDA |
|
V1907 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD, PDA |
|
V1908 |
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V1909 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1910 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1911 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V1912 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V1913 |
Small Variation |
GATA4 |
NG_008177.2:g.84991G>R |
isolated CHD: ASD |
|
V1914 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1915 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1916 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, PDA |
|
V1917 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, PDA |
|
V1918 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1919 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1920 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V1921 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V1922 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V1933 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1934 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1935 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, PDA |
|
V1936 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, PDA |
|
V1937 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, PDA |
|
V1938 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD, PDA |
|
V1939 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD, PDA |
|
V1940 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD, PDA |
|
V1941 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V1942 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD, PDA |
|
V1943 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, VSD, PDA |
|
V1944 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1945 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1946 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V1947 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V1948 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: ASD |
|
V1949 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1950 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1951 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V1952 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V1953 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V1954 |
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
isolated CHD: ASD |
|
V1955 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1956 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1957 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V1958 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V1959 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V1960 |
Small Variation |
GATA4 |
NG_008177.2:g.83415G>R |
isolated CHD: ASD |
|
V1961 |
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
isolated CHD: ASD |
|
V1966 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1967 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1968 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>T |
isolated CHD: ASD |
|
V1969 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: ASD |
|
V1970 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, PDA |
|
V1971 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, PDA |
|
V1972 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, PDA |
|
V1973 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, PDA |
|
V1994 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V1995 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V1996 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V1997 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V1998 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V1999 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V2000 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V2001 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V2002 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V2003 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V2004 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V2005 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V2006 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V2007 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V2008 |
Small Variation |
GATA4 |
NG_008177.2:g.83318G>K |
isolated CHD: ASD |
|
V2032 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PS |
|
V2033 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PS |
|
V2034 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PS |
|
V2035 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: PS |
|
V2036 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: PS |
|
V2037 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: PS |
|
V2038 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PS |
|
V2039 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: ASD, PDA |
|
V2040 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
non-isolated CHD: ASD, PDA |
|
V2041 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, PDA |
|
V2042 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, PDA |
|
V2043 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, PDA |
|
V2044 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
non-isolated CHD: ASD, PDA |
|
V2045 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD, PDA |
|
V2046 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD, PDA |
|
V2047 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD, PDA |
|
V2048 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2049 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD, PDA |
|
V2050 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, VSD, PDA |
|
V2051 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD, PDA |
|
V2052 |
Small Variation |
GATA4 |
NG_008177.2:g.87725T>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2053 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: VSD, DORV |
|
V2060 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: TOF, VSD, PS |
|
V2061 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: TOF, VSD, PS |
|
V2062 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: TOF, VSD, PS |
|
V2063 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: TOF, VSD, PS |
|
V2064 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: TOF, VSD, PS |
|
V2065 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: TOF, VSD, PS |
|
V2066 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
non-isolated CHD: ASD, VSD, PDA |
|
V2067 |
Small Variation |
GATA4 |
NG_008177.2:g.83271A>M |
non-isolated CHD: ASD, VSD, PDA |
|
V2068 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD, PDA |
|
V2069 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD, PDA |
|
V2076 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V2077 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: ASD |
|
V2078 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>G |
isolated CHD: ASD |
|
V2079 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: ASD |
|
V2080 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>C |
isolated CHD: ASD |
|
V2081 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V2082 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: ASD |
|
V2083 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V2084 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V2085 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V2086 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
V2172 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
V2194 |
Small Variation |
KCNH2 |
NM_000238.4:c.1682C>T |
non-isolated CHD: VSD, RVOT stenosis |
|
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 |
|
V2210 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
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 |
|
V2216 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: DCRV |
|
V2220 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
non-isolated CHD: DCRV, 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 |
|
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 |
|
V2234 |
Small Variation |
SOX17 |
NM_022454.4:c.388C>T |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
V2263 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
NA: other |
|
V2273 |
Small Variation |
GATA4 |
NM_002052.5:c.27C>A |
non-isolated CHD: LV, PDA |
|
V2275 |
Small Variation |
GATA4 |
NM_002052.5:c.1233G>A |
isolated CHD: ASD |
|
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 |
|
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) |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
C0001 |
CNV |
NA |
NA |
non-isolated CHD: PAS, PDA |
|
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 |
|
C0014 |
CNV |
TMEM130, TRRAP, SMURF1 |
NA |
isolated CHD: AC |
|
C0017 |
CNV |
SPOCK3, ANXA10 |
NA |
non-isolated CHD: VSD, PDA |
|
C0018 |
CNV |
NA |
NA |
isolated CHD: PS |
|
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 |
|
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 |
|
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 |
|
C0119 |
CNV |
SMC1A, RJBC1, IQSEC2, HSD17B10 |
NA |
isolated CHD: DOA |
|
C0120 |
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: other |
|
C0135 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
non-isolated CHD: LS-CHD, other |
|
C0136 |
CNV |
OR6S1, ANG, RNASE4 |
NA |
isolated CHD: LS-CHD |
|
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 |
|
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 |
|
C0154 |
CNV |
NA |
NA |
non-isolated CHD: TOF, PDA/PA, PDA |
|
C0155 |
CNV |
NA |
NA |
non-isolated CHD: TOF, MAPCA/PA, MAPCA |
|
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 |
|
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 |
|
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 |
|
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 |
chr7: g.142334207_142460871del |
isolated CHD: TOF |
|
C0199 |
CNV |
GATA4 |
chr8: g.8067768_12530976dup |
isolated CHD: TOF |
|
C0200 |
CNV |
GATA4 |
chr8: g.11606428_11710963del |
isolated CHD: TOF |
|
C0203 |
CNV |
EHBP1L1, LTBP3, MAP3K11, PCNXL3, SCYL1, SSSCA1 |
chr11: g.65157239_65408708del |
non-isolated CHD: TOF, PA |
|
C0204 |
CNV |
GJA5 |
chr1: g.145586403_145799634dup |
non-isolated CHD: TOF, APVS |
|
C0208 |
CNV |
TIMM9, TOMM20L |
chr14: g.58860893_58881694del |
isolated CHD: TOF |
|
C0209 |
CNV |
LIN52 |
chr14: g.74551632_74551731dup |
isolated CHD: TOF |
|
C0212 |
CNV |
CYFIP1 |
chr15: g.22750305_23228712del |
non-isolated CHD: TOF, PA |
|
C0214 |
CNV |
EIF3J, SPG11 |
chr15: g.44833588_44856873del |
non-isolated CHD: TA, D-TGA |
|
C0215 |
CNV |
GJA5 |
chr1: g.146631133_147416212dup |
isolated CHD: TOF |
|
C0216 |
CNV |
NTRK3 |
chr15: g.88761539_88779300dup |
non-isolated CHD: TOF, D-TGA |
|
C0217 |
CNV |
TOP2A |
chr17: g.38544624_38548586del |
isolated CHD: TOF |
|
C0218 |
CNV |
EIF1 |
chr17: g.39845210_39846477dup |
isolated CHD: TOF |
|
C0219 |
CNV |
C5AR1, C5AR2, DHX34 |
chr19: g.47792293_47905132del |
non-isolated CHD: TOF, PA |
|
C0220 |
CNV |
MACROD2, MACROD2-IT1 |
chr20: g.14529657_14583899del |
isolated CHD: D-TGA |
|
C0221 |
CNV |
TBX1 |
chr22: g.19020529_21380382del |
isolated CHD: TOF |
|
C0222 |
CNV |
NA |
chr22: g.25661725_25919492dup |
isolated CHD: TOF |
|
C0226 |
CNV |
PCBP1 |
chr2: g.70168995_70359345del |
non-isolated CHD: TOF, PA |
|
C0229 |
CNV |
BTD, HACL1 |
chr3: g.15637812_15643461dup |
isolated CHD: TOF |
|
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 |
|
C0250 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0251 |
CNV |
NA |
NA |
isolated CHD: TAPVR |
|
C0252 |
CNV |
NA |
NA |
isolated CHD: TA |
|
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 |
|
C0265 |
CNV |
NA |
NA |
isolated CHD: TA |
|
C0268 |
CNV |
MIR598, MTMR9, SLC35G5, TDH,
C8orf12, FAM167A,
BLK, LINC00208,
GATA4, NEIL2, FDFT1, CTSB, REPPb |
chr8: g.1077663_11858466dup |
non-isolated CHD: CIAV, CoA, VSD, parachute mitral valve, transverse hypoplasia |
|
C0269 |
CNV |
PLB1, PPP1CB, SPDYA, TRMT61B,
WDR43, FAM179A, C2orf71, CLIP4 |
chr2: g.28796008_29320823dup |
isolated CHD: CoA |
|
C0270 |
CNV |
LMO7 |
chr13: g.76391357_76408458del |
isolated CHD: CoA |
|
C0271 |
CNV |
MAFF, TMEM184B |
chr22: g.38609792_38627292dup |
isolated CHD: CoA |
|
C0272 |
CNV |
RASA2 |
chr3: g.141272742_141385600del |
isolated CHD: CoA |
|
C0273 |
CNV |
PDE8A |
chr15: g.85606120_85682231dup |
isolated CHD: CoA |
|
C0274 |
CNV |
GLIS3, GLIS3-AS1 |
chr9: g.3781683_4161396dup |
isolated CHD: CoA |
|
C0275 |
CNV |
PDCD1LG2, KIAA1432 |
chr9: g.5534835_5765850dup |
isolated CHD: CoA |
|
C0276 |
CNV |
ADH1B |
chr4: g.100226779_100242071dup |
isolated CHD: TGA |
|
C0277 |
CNV |
FAN1, MTMR10, TRPM1, MIR211, RP11-16E12.2, KLF13, OTUD7A, CHRNA7 |
chr15: g.31196707_32404023dup |
isolated CHD: TGA |
|
C0278 |
CNV |
PRDM5 |
chr4: g.121616153_121698352del |
isolated CHD: TGA |
|
C0279 |
CNV |
VPS13B |
chr8: g.100205095_100403786del |
isolated CHD: TGA |
|
C0280 |
CNV |
FBN1 |
chr5: g.48883414_48900202dup |
isolated CHD: TGA |
|
C0281 |
CNV |
WDR33 |
chr2: g.128476795_128484318del |
isolated CHD: TGA |
|
C0282 |
CNV |
CSMD1 |
chr8: g.2975904_3226799del |
isolated CHD: TGA |
|
C0283 |
CNV |
MAD1L1, FTSJ2 |
chr7: g.2255641_2275168del |
isolated CHD: CoA |
|
C0284 |
CNV |
ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17 |
chr2: g.9525380_9650247dup |
isolated CHD: TGA |
|
C0285 |
CNV |
LRCH3, IQCG, RPL35A, LMLN,
ANKRD18DP |
chr3: g.197566221_197807478dup |
isolated CHD: TGA |
|
C0286 |
CNV |
RLN3, IL27RA |
chr19: g.14138589_14159806dup |
isolated CHD: TGA |
|
C0287 |
CNV |
PNPLA4 |
chrX: g.7866965_7923963dup |
isolated CHD: TGA |
|
C0288 |
CNV |
BTRC, POLL |
chr10: g.103190059_103342592dup |
isolated CHD: TGA |
|
C0289 |
CNV |
DAOA-AS1, DAOA, LINC00343 |
chr13: g.105161812_106809573dup |
isolated CHD: TGA |
|
C0290 |
CNV |
BTRC |
chr10: g.103291033_103317035dup |
isolated CHD: TGA |
|
C0291 |
CNV |
CEP85L, BRD7P3, PLN |
chr6: g.118771397_119031236dup |
isolated CHD: TGA |
|
C0292 |
CNV |
ST18, FAM150A, RB1CC1 |
chr8: g.53161037_53599551dup |
isolated CHD: TGA |
|
C0293 |
CNV |
EXOSC9, CCNA2 |
chr4: g.122735142_122739763dup |
isolated CHD: TGA |
|
C0294 |
CNV |
NUSAP1, NDUFAF1 |
chr15: g.41663852_41689386del |
isolated CHD: TGA |
|
C0295 |
CNV |
SORBS2 |
chr4: g.186558702_186625136dup |
isolated CHD: TGA |
|
C0296 |
CNV |
CNNM2, NT5C2 |
chr10: g.104828409_104857092del |
isolated CHD: CoA |
|
C0297 |
CNV |
ACSL6, LOC728637 |
chr5: g.131247533_131312372dup |
isolated CHD: TGA |
|
C0298 |
CNV |
CSRP2BP, ZNF133, LINC00851, DZANK1,
POLR3F, MIR3192, RBBP9, SEC23B |
chr20: g.18162446_18505596dup |
isolated CHD: TGA |
|
C0299 |
CNV |
CDR2, PRN3P3 |
chr16: g.22357397_22431498dup |
isolated CHD: TGA |
|
C0300 |
CNV |
TCTE3, ERMARD, LINC00242, LINC00574 |
chr6: g.170140381_170202588dup |
isolated CHD: TGA |
|
C0301 |
CNV |
CAST, ERAP1 |
chr5: g.96107398_96143818dup |
isolated CHD: TGA |
|
C0302 |
CNV |
BASP1P1, SGCG, SACS, SACS-AS1, LINC00327, TNFRSF19, MIPEP,
C1QTNF9B-AS1, ANKRD20A19P |
chr13: g.23235248_24515626dup |
isolated CHD: TGA |
|
C0303 |
CNV |
PTPRN2, MIR5707, NCAPG2, ESYT2 |
chr7: g.158331982_158611448dup |
isolated CHD: TGA |
|
C0304 |
CNV |
ACAD10, ALDH2, MIR6761, MAPKAPK5-AS1, MPKAPK5 |
chr12: g.112182542_112308929dup |
isolated CHD: TGA |
|
C0305 |
CNV |
CHRNB3 |
chr8: g.42583985_42587697dup |
isolated CHD: TGA |
|
C0307 |
CNV |
CDK13 |
chr7: g.40027276_40136317dup |
isolated CHD: CoA |
|
C0318 |
CNV |
NUP160, PTPRJ, OR4B1, OR4X2, OR4X1, OR4S1, OR4C3 |
chr11: g.47870014_48347382dup |
isolated CHD: CoA |
|
C0329 |
CNV |
NFATC3, ESRP2, MIR6773, PLA2G15 |
chr16: g.68170552_68294429dup |
isolated CHD: CoA |
|
C0336 |
CNV |
PRPF4B, FAM217A, C6orf201, ECI2, RP3-
400B16.1, CDYL, RPP40 |
chr6: g.3983732_5004202del |
isolated CHD: TGA |
|
C0337 |
CNV |
MGAM |
chr7: g.141705389_141740593del |
isolated CHD: CoA |
|
C0338 |
CNV |
SDC1, PUM2 |
chr2: g.20403619_20451508dup |
isolated CHD: CoA |
|
C0339 |
CNV |
FAM73A, NEXN-AS1, NEXN |
chr1: g.78308983_78384008dup |
isolated CHD: CoA |
|
C0340 |
CNV |
LPHN2 |
chr1: g.80004803_82604803dup |
isolated CHD: TGA |
|
C0341 |
CNV |
C16orf52, CDR2, EEF2K, NPIPB5, OTOA, PDZD9, POLR3E, UQCRC2, VWA3A |
chr16: g.21761466_921761466dup |
isolated CHD: TGA |
|
C0342 |
CNV |
CXorf23, MAP7D2, SH3KBP1 |
chrX: g.19551017_579551017dup |
isolated CHD: TGA |
|
C0344 |
CNV |
SLC8A1 |
chr2: g.40629779_40644779del |
isolated CHD: ccTGA |
|
C0345 |
CNV |
CCDC141 |
chr2: g.179853465_179884465del |
isolated CHD: ccTGA |
|
C0350 |
CNV |
NKX1-2, OAT |
chr10: g.126100523_126163523del |
isolated CHD: ccTGA |
|
C0351 |
CNV |
IQCJ-SCHIP1, SCHIP1 |
chr3: g.158993239_159493239dup |
isolated CHD: TGA |
|
C0357 |
CNV |
NA |
chr4: g.130781712_132381712del |
isolated CHD: TGA |
|
C0358 |
CNV |
MAGI2 |
chr7: g.78703768_578703768del |
isolated CHD: TGA |
|
C0359 |
CNV |
SGCZ |
chr8: g.14536773_15226773dup |
isolated CHD: TGA |
|
C0360 |
CNV |
DDX51, EP400, GALNT9, MMP17, PUS1, NOC4L, SFSWAP, ULK1 |
chr12: g.132240196_145240196dup |
isolated CHD: TGA |
|
C0361 |
CNV |
KL, STARD13 |
chr13: g.33376884_933376884del |
isolated CHD: TGA |
|
C0362 |
CNV |
RBFOX1 |
chr16: g.5699774_705699774dup |
isolated CHD: TGA |
|
C0363 |
CNV |
ABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, MPV17L, MYH11,NDE1, NOMO3, NPIPA5, XYLT1 |
chr16: g.15358459_18158459del |
isolated CHD: TGA |
|
C0364 |
CNV |
NA |
chr7: g.4102511_4867717dup |
isolated CHD: NA |
|
C0365 |
CNV |
NA |
chr22: g.21024486_21441861del |
isolated CHD: NA |
|
C0366 |
CNV |
NA |
chr3: g.95067163_95989113dup |
isolated CHD: NA |
|
C0367 |
CNV |
NA |
chr10: g.2682656_3123648dup |
isolated CHD: NA |
|
C0368 |
CNV |
NA |
chr1: g.239320770_240023059dup |
isolated CHD: NA |
|
C0369 |
CNV |
NA |
chr12: g.33415349_34669982dup |
isolated CHD: NA |
|
C0370 |
CNV |
NA |
chr22: g.21024486_21554058del |
isolated CHD: NA |
|
C0371 |
CNV |
NA |
chr13: g.102725899_103348161dup |
isolated CHD: NA |
|
C0372 |
CNV |
NA |
chr22: g.17257787_19790220del |
isolated CHD: NA |
|
C0373 |
CNV |
NA |
chr15: g.20306549_20778963del |
isolated CHD: NA |
|
C0374 |
CNV |
NA |
chr22: g.20885078_21401228del |
isolated CHD: NA |
|
C0375 |
CNV |
NA |
chr18: g.13417800_15112502dup |
isolated CHD: NA |
|
C0376 |
CNV |
NA |
chr22: g.17257787_18686993del |
isolated CHD: NA |
|
C0377 |
CNV |
NA |
chr8: g.11620338_11935618dup |
isolated CHD: NA |
|
C0378 |
CNV |
NA |
chr2: g.111303487_111617069dup |
isolated CHD: NA |
|
C0379 |
CNV |
NA |
chr9: g.194201_589666dup |
isolated CHD: NA |
|
C0380 |
CNV |
NA |
chr22: g.21100917_21554058del |
isolated CHD: NA |
|
C0381 |
CNV |
NA |
chr6: g.65228140_66383666del |
isolated CHD: NA |
|
C0382 |
CNV |
NA |
chr16: g.15032942_16197033del |
isolated CHD: NA |
|
C0383 |
CNV |
NA |
chr7: g.158059922_158621330dup |
isolated CHD: NA |
|
C0384 |
CNV |
NA |
chr7: g.57212608_57593745dup |
isolated CHD: NA |
|
C0385 |
CNV |
NA |
chr16: g.21892987_22331199dup |
isolated CHD: NA |
|
C0386 |
CNV |
NA |
chr22: g.21122400_21554058del |
isolated CHD: NA |
|
C0387 |
CNV |
NA |
chr15: g.20306549_20685684del |
isolated CHD: NA |
|
C0388 |
CNV |
NA |
chr22: g.17257787_19729278del |
isolated CHD: NA |
|
C0389 |
CNV |
NA |
chr22: g.21024486_21554058del |
isolated CHD: NA |
|
C0390 |
CNV |
NA |
chr22: g.20784580_21330892del |
isolated CHD: NA |
|
C0391 |
CNV |
NA |
chr22: g.21100917_21554058del |
isolated CHD: NA |
|
C0392 |
CNV |
NA |
chr22: g.17257787_19792353dup |
isolated CHD: NA |
|
C0393 |
CNV |
NA |
chr1: g.244544759_244871447dup |
isolated CHD: NA |
|
C0394 |
CNV |
NA |
chr3: g.11622173_11958591dup |
isolated CHD: NA |
|
C0395 |
CNV |
NA |
chr22: g.21328337_21979242del |
isolated CHD: NA |
|
C0396 |
CNV |
NA |
chr22: g.21046568_21401228del |
isolated CHD: NA |
|
C0397 |
CNV |
NA |
chr22: g.21011312_21554058del |
isolated CHD: NA |
|
C0398 |
CNV |
NA |
chr6: g.162521711_162900893dup |
isolated CHD: NA |
|
C0399 |
CNV |
NA |
chr12: g.24803300_25155526dup |
isolated CHD: NA |
|
C0400 |
CNV |
NA |
chr15: g.20306549_20685684dup |
isolated CHD: NA |
|
C0401 |
CNV |
NA |
chr22: g.21328337_21979242del |
isolated CHD: NA |
|
C0402 |
CNV |
NA |
chr22: g.17257787_19792353dup |
isolated CHD: NA |
|
C0403 |
CNV |
NA |
chr22: g.19066315_19792353dup |
isolated CHD: NA |
|
C0404 |
CNV |
NA |
chr3: g.1394026_1975594dup |
isolated CHD: NA |
|
C0405 |
CNV |
NA |
chr12: g.33415349_34565140dup |
isolated CHD: NA |
|
C0406 |
CNV |
NA |
chr9: g.4117491_4537288dup |
isolated CHD: NA |
|
C0407 |
CNV |
NA |
chr3: g.832325_1403635dup |
isolated CHD: NA |
|
C0408 |
CNV |
NA |
chr7: g.143056311_143505123dup |
isolated CHD: NA |
|
C0409 |
CNV |
NA |
chr9: g.36587_360439del |
isolated CHD: NA |
|
C0410 |
CNV |
NA |
chr3: g.133579573_133940085del |
isolated CHD: NA |
|
C0411 |
CNV |
NA |
chr16: g.15032942_16197033dup |
isolated CHD: NA |
|
C0412 |
CNV |
NA |
chr10: g.133136594_133608348dup |
isolated CHD: NA |
|
C0413 |
CNV |
NA |
chr10: g.46410734_47173619dup |
isolated CHD: NA |
|
C0414 |
CNV |
NA |
chr22: g.17257787_19726528del |
isolated CHD: NA |
|
C0415 |
CNV |
NA |
chr22: g.17257787_19792353del |
isolated CHD: NA |
|
C0416 |
CNV |
NA |
chr15: g.20306549_20685685del |
isolated CHD: NA |
|
C0417 |
CNV |
NA |
NA |
isolated CHD: NA |
|
C0421 |
CNV |
ACOX3, C4orf23, HTRA3, SH3TC1 |
chr4: g.8270586_8498212del |
non-isolated CHD: VSD, ASD |
|
C0422 |
CNV |
CACNG3, CHP2, PLK1, PRKCB, XYLT1 |
chr16: g.16574972_28505961dup |
non-isolated CHD: VSD, ASD |
|
C0423 |
CNV |
XKRX |
chrX: g.100039582_100068017dup |
non-isolated CHD: VSD, ASD, PDA, PAH |
|
C0424 |
CNV |
NBEA |
chr13: g.35777130_35835221dup |
non-isolated CHD: VSD, PDA, PFO |
|
C0425 |
CNV |
MAGEC1, MAGEC2, MAGEC3 |
chrX: g.140727218_141583235dup |
non-isolated CHD: VSD, PDA, PFO |
|
C0433 |
CNV |
EN1 |
chr2: g.119275149_119375870dup |
non-isolated CHD: VSD, PFO, PAH |
|
C0435 |
CNV |
FRMD3, RASEF |
chr9: g.84859691_85387778del |
non-isolated CHD: ASD, PS |
|
C0438 |
CNV |
EGFL6 |
chrX: g.13472898_13530787del |
non-isolated CHD: VSD, PDA, ASD, PFO |
|
C0440 |
CNV |
COG8, CYB5B, NIP7, PDF, SNTB2, TERF2, TMED6, VPS4A |
chr16: g.67868480_68086257del |
isolated CHD: TGA |
|
C0443 |
CNV |
GOLGA4, C3ORF35, ITGA9 |
chr3: g.37377757_37577933dup |
isolated CHD: ASD |
|
C0444 |
CNV |
SOX2, MAP3K13, BCL6, TP63, FGF12 |
chr3: g.180469228_198475603dup |
isolated CHD: ASD |
|
C0445 |
CNV |
CASP3, ING2, PDLIM3, SLC25A4, F11 |
chr4: g.181026511_190784769del |
isolated CHD: ASD |
|
C0449 |
CNV |
CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) |
chr8: g.83573868_83964230dup |
isolated CHD: EA |
|
C0450 |
CNV |
MYOZ2, RP11-455G16.1, USP53 |
chr4: g.120028773_120162705dup |
isolated CHD: EA |
|
C0451 |
CNV |
CYP4V2, F11, FAM149A, KLKB1 |
chr4: g.187078181_187190810dup |
isolated CHD: EA |
|
C0452 |
CNV |
CTC-(551A13.2), WDR36 |
chr5: g.110417428_110444810dup |
isolated CHD: EA |
|
C0453 |
CNV |
SLC35F1 |
chr6: g.118039508_118237605dup |
isolated CHD: EA |
|
C0454 |
CNV |
RP11(307P5.1), RP11(307P5.2) |
chr6: g.148005232_148138720dup |
isolated CHD: EA |
|
C0455 |
CNV |
CTD-(2272D18.1), RP11-(731N10.1) |
chr8: g.83848688_83981829dup |
isolated CHD: EA |
|
C0456 |
CNV |
SPIDR |
chr8: g.48170319_48204412dup |
isolated CHD: EA |
|
C0457 |
CNV |
CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) |
chr10: g.105157553_105215741dup |
isolated CHD: EA |
|
C0458 |
CNV |
SORCS1 |
chr10: g.108765792_108793878dup |
isolated CHD: EA |
|
C0459 |
CNV |
AP000439.1, AP000439.2, AP000439.3, AP000439.5 |
chr11: g.69239611_69434379dup |
isolated CHD: EA |
|
C0460 |
CNV |
C2CD5, RP11(359J14.2) |
chr12: g.22608226_22649460dup |
isolated CHD: EA |
|
C0461 |
CNV |
DIP2B |
chr12: g.50893815_50995674dup |
isolated CHD: EA |
|
C0462 |
CNV |
NA |
chr13: g.67843475_67900578dup |
isolated CHD: EA |
|
C0463 |
CNV |
KIF17 |
chr1: g.21002613_21037639dup |
isolated CHD: EA |
|
C0464 |
CNV |
LMO7, RP11(29G8.3) |
chr13: g.76247612_76281850dup |
isolated CHD: EA |
|
C0465 |
CNV |
C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11
(473I1.9); RP11(77H9.8); USP7 |
chr16: g.9041214_9295696dup |
isolated CHD: EA |
|
C0466 |
CNV |
RP11(309M23.1) |
chrX: g.902677_1262175dup |
isolated CHD: EA |
|
C0467 |
CNV |
DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P |
chrX: g.44381642_44872791dup |
isolated CHD: EA |
|
C0468 |
CNV |
NA |
chrX: g.61726006_62027422del |
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 |
|
C0485 |
CNV |
NA |
chr8: g.186477_2909002del |
isolated CHD: RLBV |
|
C0486 |
CNV |
NA |
chr8: g.2441865_13981255dup |
isolated CHD: RLBV |
|
C0490 |
CNV |
PRKD1,ATG5, AIM1, RTN4IP1,
QRSL1, C6orf203, BEND3 and PDSS2 |
chr6: g.106082956_107737955del |
non-isolated CHD: TA, SV SD with OA |
|
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 |
|
C0510 |
CNV |
REPS2, NHS, MIR4768 |
chrXp22.2-p22.13: g.16985921_17729022dup |
isolated CHD: LC-RV fistula |
|
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 |
|
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 |