|
V0031 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
|
V0042 |
Small Variation |
MS |
NA |
isolated CHD: NA |
|
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 |
|
V0056 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: NA |
|
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 |
|
V0068 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
V0259 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
V1105 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: NA |
|
V1177 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
|
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 |
|
V1283 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1286 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: NA |
|
V1537 |
Small Variation |
SMAD7 |
NM_005904.3:c.[894C>T;1206C>G] |
isolated CHD: NA |
|
V1558 |
Small Variation |
MTRR |
NM_002454.3:c.56+781A>C |
isolated CHD: NA |
|
V1586 |
Small Variation |
STX18 |
NC_000004.12:g.4419328T>C |
isolated CHD: NA |
|
V1588 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: NA |
|
V1591 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
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 |
|
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 |
|
V1659 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: NA |
|
V1662 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: NA |
|
V1677 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: NA |
|
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 |
|
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 |
|
C0191 |
CNV |
NA |
NA |
isolated CHD: NA |
|
C0192 |
CNV |
NA |
NA |
isolated CHD: NA |
|
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 |
|
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 |
|
O0006 |
Others |
chr 21
|
trisomy 21 |
isolated CHD: NA |