|
V0001 |
Small Variation |
NKX2-5 |
NM_004387.4:c.792C>A |
isolated CHD: ASD |
|
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 |
|
V0028 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
|
V0034 |
Small Variation |
NKX2-5 |
NM_004387.4:c.533C>T |
isolated CHD: ASD |
|
V0036 |
Small Variation |
NKX2-5 |
NM_004387.4:c.171C>G |
isolated CHD: ASD |
|
V0038 |
Small Variation |
MS |
NA |
isolated CHD: ASD |
|
V0051 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: ASD |
|
V0064 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: ASD |
|
V0072 |
Small Variation |
TBX20 |
NM_001077653.2:c.456C>G |
isolated CHD: ASD |
|
V0082 |
Small Variation |
GATA4 |
NM_002052.5:c.278G>C |
isolated CHD: ASD |
|
V0090 |
Small Variation |
GATA4 |
NM_002052.5:c.946C>G |
isolated CHD: ASD |
|
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 |
|
V0099 |
Small Variation |
GATA4 |
NM_002052.5:c.462C>T |
isolated CHD: ASD |
|
V0114 |
Small Variation |
GATA4 |
NM_002052.5:c.975G>A |
isolated CHD: ASD |
|
V0131 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
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 |
|
V0146 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: ASD |
|
V0152 |
Small Variation |
CFC1 |
NM_001270420.1:c.506G>T |
isolated CHD: ASD |
|
V0154 |
Small Variation |
CFC1 |
NM_001270420.1:c.517G>A |
isolated CHD: ASD |
|
V0171 |
Small Variation |
GATA4 |
NM_002052.5:c.928A>G |
isolated CHD: ASD |
|
V0216 |
Small Variation |
GATA4 |
NM_002052.5:c.531C>A |
isolated CHD: ASD |
|
V0224 |
Small Variation |
GATA4 |
NM_002052.5:c.1232C>T |
isolated CHD: ASD |
|
V0227 |
Small Variation |
GATA4 |
NM_002052.5:c.348C>T |
isolated CHD: ASD |
|
V0239 |
Small Variation |
GATA4 |
NM_002052.5:c.62G>T |
isolated CHD: ASD |
|
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 |
|
V0295 |
Small Variation |
NKX2-5 |
NM_004387.4:c.64C>A |
isolated CHD: ASD |
|
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 |
|
V0340 |
Small Variation |
NODAL |
NM_003888.4:c.494A>G |
isolated CHD: ASD |
|
V0350 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
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 |
|
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 |
|
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 |
|
V0459 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: ASD |
|
V0489 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V0509 |
Small Variation |
GATA4 |
NM_001308093.1:c.975G>A |
isolated CHD: ASD |
|
V0513 |
Small Variation |
GATA4 |
NM_001308093.1:c.1326G>A |
isolated CHD: ASD |
|
V0549 |
Small Variation |
PITX2 |
NM_000325.6:c.294C>A |
isolated CHD: ASD |
|
V0550 |
Small Variation |
PITX2 |
NM_000325.6:c.356T>C |
isolated CHD: ASD |
|
V0622 |
Small Variation |
CITED2 |
NM_001168388.2:c.574A>G |
isolated CHD: ASD |
|
V0662 |
Small Variation |
ACTC1 |
NM_005159.5:c.532A>T |
isolated CHD: ASD |
|
V0681 |
Small Variation |
DLC1 |
NM_006094.5:c.1079T>A |
isolated CHD: ASD |
|
V0687 |
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: ASD |
|
V0691 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: ASD |
|
V0695 |
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: ASD |
|
V0699 |
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: ASD |
|
V0703 |
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: ASD |
|
V0707 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: ASD |
|
V0713 |
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: ASD |
|
V0718 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V0742 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0818 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0904 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: ASD |
|
V0906 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: ASD |
|
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 |
|
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 |
|
V0957 |
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: ASD |
|
V0961 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: ASD |
|
V0965 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: ASD |
|
V0969 |
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: ASD |
|
V0973 |
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: ASD |
|
V0977 |
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: ASD |
|
V0981 |
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: ASD |
|
V0985 |
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: ASD |
|
V0989 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: ASD |
|
V0993 |
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: ASD |
|
V0997 |
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: ASD |
|
V1001 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: ASD |
|
V1005 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
|
V1009 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: ASD |
|
V1013 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: ASD |
|
V1017 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: ASD |
|
V1021 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: ASD |
|
V1025 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: ASD |
|
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 |
|
V1065 |
Small Variation |
GATA4 |
NM_001308093.1:c.1292T>G |
isolated CHD: ASD |
|
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 |
|
V1101 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: ASD |
|
V1109 |
Small Variation |
NKX2-5 |
NM_004387.4:c.112delG |
isolated CHD: ASD |
|
V1179 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
|
V1209 |
Small Variation |
GATA5 |
NM_080473.5:c.56C>G |
isolated CHD: ASD |
|
V1226 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: ASD |
|
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 |
|
V1282 |
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: ASD |
|
V1285 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1288 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
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 |
|
V1433 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: ASD |
|
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 |
|
V1508 |
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
isolated CHD: ASD |
|
V1511 |
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
isolated CHD: ASD |
|
V1515 |
Small Variation |
ISL1 |
NC_000005.10:g.51356860T>C |
isolated CHD: ASD |
|
V1518 |
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
isolated CHD: ASD |
|
V1521 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: ASD |
|
V1524 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: ASD |
|
V1527 |
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
isolated CHD: ASD |
|
V1530 |
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
isolated CHD: ASD |
|
V1533 |
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
isolated CHD: ASD |
|
V1540 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V1556 |
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: ASD |
|
V1557 |
Small Variation |
RTN4 |
AY102279.1:g.4548_4554insCAA |
isolated CHD: ASD |
|
V1581 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: ASD |
|
V1587 |
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: ASD |
|
V1590 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: ASD |
|
V1593 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: ASD |
|
V1664 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: ASD |
|
V1671 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: ASD |
|
V1673 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: ASD |
|
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 |
|
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 |
|
V1747 |
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: ASD |
|
V1750 |
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: ASD |
|
V1753 |
Small Variation |
ZW10 |
NC_000011.10:g.113731833T>G |
isolated CHD: ASD |
|
V1787 |
Small Variation |
CSRP1 |
NM_004078.3:c.447_460dupTGGCAAAGGCCTTG |
isolated CHD: ASD |
|
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 |
|
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 |
|
V2172 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: ASD |
|
V2192 |
Small Variation |
KCNH2 |
NM_000238.4:c.934C>T |
isolated CHD: ASD |
|
V2210 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: ASD |
|
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 |
|
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 |
|
V2255 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: ASD |
|
V2275 |
Small Variation |
GATA4 |
NM_002052.5:c.1233G>A |
isolated CHD: ASD |
|
V2335 |
Small Variation |
GATA4 |
NM_002052.5:c.1309G>A |
isolated CHD: ASD |
|
V2347 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: ASD |
|
V2352 |
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: ASD |
|
V2357 |
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: ASD |
|
V2362 |
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: ASD |
|
V2374 |
Small Variation |
CITED2 |
NM_006079.5:c.481_483delAGC |
isolated CHD: ASD |
|
V2376 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: ASD |
|
V2377 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: ASD |
|
V2378 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: ASD |
|
V2395 |
Small Variation |
GATA5 |
NM_080473.5:c.394C>G |
isolated CHD: ASD |
|
V2410 |
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: ASD |
|
V2414 |
Small Variation |
NFATC1 |
NA |
isolated CHD: ASD |
|
V2464 |
Small Variation |
CITED2 |
NM_006079.5:c.-90A>G |
isolated CHD: ASD |
|
V2466 |
Small Variation |
CITED2 |
NM_006079.5:c.-43C>T |
isolated CHD: ASD |
|
V2492 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: ASD |
|
V2493 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: ASD |
|
V2496 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: ASD |
|
V2497 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: ASD |
|
V2515 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
isolated CHD: ASD |
|
V2523 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: ASD |
|
V2530 |
Small Variation |
GATA4 |
NG_008177.2:g.84991G>R |
isolated CHD: ASD |
|
V2531 |
Small Variation |
GATA4 |
NM_002052.5:c.1064C>G |
isolated CHD: ASD |
|
V2533 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: ASD |
|
V2534 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: ASD |
|
V2535 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: ASD |
|
V2550 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: ASD |
|
V2551 |
Small Variation |
GATA4 |
NG_008177.2:g.85294C>Y |
isolated CHD: ASD |
|
V2552 |
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: ASD |
|
V2553 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
isolated CHD: ASD |
|
V2554 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: ASD |
|
V2555 |
Small Variation |
GATA4 |
NG_008177.2:g.83415G>R |
isolated CHD: ASD |
|
V2558 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>T |
isolated CHD: ASD |
|
V2567 |
Small Variation |
GATA4 |
NG_008177.2:g.83318G>R |
isolated CHD: ASD |
|
V2600 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>G |
isolated CHD: ASD |
|
V2601 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>C |
isolated CHD: ASD |
|
V2602 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: ASD |
|
V2603 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: ASD |
|
V2604 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: ASD |
|
C0005 |
CNV |
NA |
chr1: g.144967972_146292972del |
isolated CHD: ASD |
|
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 |
|
C0202 |
CNV |
HNRNPKP3 |
|
isolated CHD: ASD |
|
C0213 |
CNV |
HERC2 |
|
isolated CHD: ASD |
|
C0443 |
CNV |
GOLGA4, C3ORF35, ITGA9 |
|
isolated CHD: ASD |
|
C0444 |
CNV |
SOX2, MAP3K13, BCL6, TP63, FGF12 |
|
isolated CHD: ASD |
|
C0445 |
CNV |
CASP3, ING2, PDLIM3, SLC25A4, F11 |
|
isolated CHD: ASD |
|
C0499 |
CNV |
NA |
NA |
isolated CHD: ASD |
|
C0520 |
CNV |
N/A |
NA |
isolated CHD: ASD |
|
C0521 |
CNV |
N/A |
NA |
isolated CHD: ASD |
|
C0580 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: ASD |
|
C0586 |
CNV |
ATG7, VGLL4 |
GRCh37 chr3: g.11393089_11618468del |
isolated CHD: ASD |
|
C0589 |
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr16: g.2312956_2353159del |
isolated CHD: ASD |
|
C0591 |
CNV |
GART, SON, MIR6501,DONSON, CRYZL1, ITSN1 |
GRCh37 chr21: g.34886796_35051669del |
isolated CHD: ASD |
|
C0600 |
CNV |
40 genes |
GRCh37 chr19: g.259395_1144343del |
isolated CHD: ASD |
|
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 |