|
V0004 |
Small Variation |
HOXC9 |
NM_006897.3:c.564C>T |
isolated CHD: VSD |
|
V0005 |
Small Variation |
PLAGL1 |
NM_001080951.3:c.486A>G |
isolated CHD: VSD |
|
V0017 |
Small Variation |
HOXA1 |
NM_005522.4:c.210C>T |
isolated CHD: VSD |
|
V0018 |
Small Variation |
HOXA1 |
NM_005522.4:c.861T>A |
isolated CHD: VSD |
|
V0019 |
Small Variation |
HOXA1 |
NM_005522.4:c.211_213delCAC |
isolated CHD: VSD |
|
V0020 |
Small Variation |
HOXA1 |
NM_005522.4:c.205_213delCACCACCAC |
isolated CHD: VSD |
|
V0029 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
|
V0037 |
Small Variation |
MS |
NA |
isolated CHD: VSD |
|
V0052 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: VSD |
|
V0065 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: VSD |
|
V0070 |
Small Variation |
TBX20 |
NM_001077653.2:c.456C>G |
isolated CHD: VSD |
|
V0093 |
Small Variation |
GATA4 |
NM_002052.5:c.1164G>A |
isolated CHD: VSD |
|
V0094 |
Small Variation |
GATA4 |
NM_002052.5:c.1232C>T |
isolated CHD: VSD |
|
V0100 |
Small Variation |
GATA4 |
NM_002052.5:c.17C>T |
isolated CHD: VSD |
|
V0104 |
Small Variation |
GATA4 |
NM_002052.5:c.136_138delTCC |
isolated CHD: VSD |
|
V0105 |
Small Variation |
GATA4 |
NM_002052.5:c.374_375insTGCCGC |
isolated CHD: VSD |
|
V0106 |
Small Variation |
GATA4 |
NM_002052.5:c.487C>T |
isolated CHD: VSD |
|
V0107 |
Small Variation |
GATA4 |
NM_002052.5:c.1075G>A |
isolated CHD: VSD |
|
V0108 |
Small Variation |
GATA4 |
NM_002052.5:c.1286G>C |
isolated CHD: VSD |
|
V0109 |
Small Variation |
GATA4 |
NM_002052.5:c.1325C>T |
isolated CHD: VSD |
|
V0118 |
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: VSD |
|
V0119 |
Small Variation |
GATA4 |
NM_002052.5:c.1326G>A |
isolated CHD: VSD |
|
V0132 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V0137 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: VSD |
|
V0147 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: VSD |
|
V0150 |
Small Variation |
SALL4 |
NM_020436.5:c.586C>T |
isolated CHD: VSD |
|
V0151 |
Small Variation |
SALL4 |
NM_020436.5:c.2389A>T |
isolated CHD: VSD |
|
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 |
|
V0194 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: VSD |
|
V0195 |
Small Variation |
GATA4 |
NM_001308093.1:c.744C>T |
isolated CHD: VSD |
|
V0196 |
Small Variation |
NKX2-5 |
NM_004387.4:c.769C>G |
isolated CHD: VSD |
|
V0226 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V0253 |
Small Variation |
IRX4 |
NM_001278632.1:c.253A>T |
isolated CHD: VSD |
|
V0254 |
Small Variation |
IRX4 |
NM_001278632.1:c.275A>G |
isolated CHD: VSD |
|
V0266 |
Small Variation |
GATA4 |
NM_002052.5:c.1138G>A |
isolated CHD: VSD |
|
V0268 |
Small Variation |
HAND1 |
NM_004821.3:c.217G>A |
isolated CHD: VSD |
|
V0269 |
Small Variation |
HAND1 |
NM_004821.3:c.456G>T |
isolated CHD: VSD |
|
V0289 |
Small Variation |
GATA4 |
NM_002052.5:N/A |
isolated CHD: VSD |
|
V0290 |
Small Variation |
GATA4 |
NM_002052.5:c.127C>T |
isolated CHD: VSD |
|
V0296 |
Small Variation |
NKX2-5 |
NM_004387.4:c.106C>A |
isolated CHD: VSD |
|
V0342 |
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD: VSD |
|
V0343 |
Small Variation |
TBX20 |
NG_015805.1:g.4741G>A |
isolated CHD: VSD |
|
V0344 |
Small Variation |
TBX20 |
NG_015805.1:g.4932G>A |
isolated CHD: VSD |
|
V0345 |
Small Variation |
TBX20 |
NG_015805.1:g.5198G>A |
isolated CHD: VSD |
|
V0346 |
Small Variation |
TBX20 |
NC_000007.14:g.35253806A>G |
isolated CHD: VSD |
|
V0349 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: VSD |
|
V0358 |
Small Variation |
NKX2-5 |
NG_013340.1:g.4209A>G |
isolated CHD: VSD |
|
V0359 |
Small Variation |
NKX2-5 |
NG_013340.1:g.4574delC |
isolated CHD: VSD |
|
V0360 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173235491T>C |
isolated CHD: VSD |
|
V0361 |
Small Variation |
NKX2-5 |
NM_004387.4:c.-100G>A |
isolated CHD: VSD |
|
V0362 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V0363 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V0375 |
Small Variation |
GATA4 |
NM_001308093.1:c.164A>G |
isolated CHD: VSD |
|
V0378 |
Small Variation |
GATA4 |
NM_001308093.1:c.1211A>G |
isolated CHD: VSD |
|
V0382 |
Small Variation |
TBX1 |
NC_000022.11:g.19755901C>T |
isolated CHD: VSD |
|
V0383 |
Small Variation |
TBX1 |
NG_009229.1:g.4353C>T |
isolated CHD: VSD |
|
V0384 |
Small Variation |
TBX1 |
NG_009229.1:g.4510A>C |
isolated CHD: VSD |
|
V0385 |
Small Variation |
NKX2-5 |
NG_013340:g.1467G>A |
isolated CHD: VSD |
|
V0386 |
Small Variation |
NKX2-5 |
NG_013340:g.1483_1484insGTGGCC(T)GGCCCCG |
isolated CHD: VSD |
|
V0387 |
Small Variation |
NKX2-5 |
NG_013340:g.1515_1516InsGCGGAG |
isolated CHD: VSD |
|
V0389 |
Small Variation |
SIRT1 |
NC_000010.11:g.67883935A>G |
isolated CHD: VSD |
|
V0390 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884205A>T |
isolated CHD: VSD |
|
V0391 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884213G>A |
isolated CHD: VSD |
|
V0392 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884608_67884609insGGGTCACGTGATGGGGT |
isolated CHD: VSD |
|
V0393 |
Small Variation |
SIRT1 |
NC_000010.11:g.67883949A>C |
isolated CHD: VSD |
|
V0394 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884001A>T |
isolated CHD: VSD |
|
V0395 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884116C>A |
isolated CHD: VSD |
|
V0396 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884201A>G |
isolated CHD: VSD |
|
V0397 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884451C>G |
isolated CHD: VSD |
|
V0398 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884455G>A |
isolated CHD: VSD |
|
V0399 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884459A>C |
isolated CHD: VSD |
|
V0400 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884461G>A |
isolated CHD: VSD |
|
V0401 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884482G>T |
isolated CHD: VSD |
|
V0402 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884510T>A |
isolated CHD: VSD |
|
V0403 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884577A>G |
isolated CHD: VSD |
|
V0404 |
Small Variation |
SIRT1 |
NC_000010.11:g.67884583G>C |
isolated CHD: VSD |
|
V0405 |
Small Variation |
SIRT1 |
NC_000010.11:g.69644351G>A |
isolated CHD: VSD |
|
V0406 |
Small Variation |
SIRT1 |
NC_000010.11:g.69644441G>A |
isolated CHD: VSD |
|
V0407 |
Small Variation |
GATA4 |
NM_002052.5:c.-229T>A |
isolated CHD: VSD |
|
V0408 |
Small Variation |
GATA4 |
NM_002052.5:c.-179T>G |
isolated CHD: VSD |
|
V0414 |
Small Variation |
GATA4 |
NM_002052.5:c.788C>G |
isolated CHD: VSD |
|
V0420 |
Small Variation |
GATA4 |
NM_002052.5:c.1308C>T |
isolated CHD: VSD |
|
V0422 |
Small Variation |
GATA4 |
NM_002052.5:c.1329+84C>T |
isolated CHD: VSD |
|
V0424 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V0426 |
Small Variation |
TFAP2B |
NM_003221.4:c.-34G>A |
isolated CHD: VSD |
|
V0428 |
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: VSD |
|
V0437 |
Small Variation |
GATA5 |
NM_080473.5:c.595C>G |
isolated CHD: VSD |
|
V0441 |
Small Variation |
GATA6 |
NM_005257.5:c.1210G>T |
isolated CHD: VSD |
|
V0460 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: VSD |
|
V0472 |
Small Variation |
TBX3 |
NG_008315.1:g.3863C>T |
isolated CHD: VSD |
|
V0473 |
Small Variation |
TBX3 |
NG_008315.1:g.3913_3914insCATCCA |
isolated CHD: VSD |
|
V0474 |
Small Variation |
TBX3 |
NC_000012.12:g.114685070C>A |
isolated CHD: VSD |
|
V0475 |
Small Variation |
TBX3 |
NG_008315.1:g.4433_4435delAGA |
isolated CHD: VSD |
|
V0476 |
Small Variation |
TBX3 |
NG_008315.1:g.4672_4675delGCGA |
isolated CHD: VSD |
|
V0477 |
Small Variation |
TBX3 |
NG_008315.1:g.4735_4736insGC |
isolated CHD: VSD |
|
V0478 |
Small Variation |
TBX3 |
NG_008315.1:g.4820_4821delCA |
isolated CHD: VSD |
|
V0484 |
Small Variation |
NFATC1 |
NC_000018.10:g.79414220T>C |
isolated CHD: VSD |
|
V0485 |
Small Variation |
NFATC1 |
NC_000018.10:g.79454468C>T |
isolated CHD: VSD |
|
V0486 |
Small Variation |
NFATC1 |
NC_000018.10:g.79466368G>A |
isolated CHD: VSD |
|
V0490 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: VSD |
|
V0497 |
Small Variation |
HOMEZ |
NM_020834.3:c.116C>T |
isolated CHD: VSD |
|
V0498 |
Small Variation |
HOMEZ |
NM_020834.3:c.630T>A |
isolated CHD: VSD |
|
V0500 |
Small Variation |
GATA4 |
NM_001308093.1:c.1129A>G |
isolated CHD: VSD |
|
V0501 |
Small Variation |
GATA4 |
NM_001308093.1:c.132G>T |
isolated CHD: VSD |
|
V0505 |
Small Variation |
GATA4 |
NM_001308093.1:c.678G>A |
isolated CHD: VSD |
|
V0506 |
Small Variation |
GATA4 |
NM_001308093.1:c.723C>T |
isolated CHD: VSD |
|
V0516 |
Small Variation |
GATA4 |
NM_001308093.1:c.749T>A |
isolated CHD: VSD |
|
V0518 |
Small Variation |
GATA4 |
NM_001308093.1:c.1079A>G |
isolated CHD: VSD |
|
V0519 |
Small Variation |
GATA4 |
NM_001308093.1:c.1325C>T |
isolated CHD: VSD |
|
V0521 |
Small Variation |
GATA4 |
NM_001308093.1:c.487C>T |
isolated CHD: VSD |
|
V0524 |
Small Variation |
NKX2-5 |
NT_023133.1:g.17483564C>T |
isolated CHD: VSD |
|
V0525 |
Small Variation |
NKX2-5 |
NT_023133.1:g.17483576C>G |
isolated CHD: VSD |
|
V0526 |
Small Variation |
NKX2-5 |
NT_023133.1:g.17483557_17483558insC |
isolated CHD: VSD |
|
V0527 |
Small Variation |
TBX2 |
NC_000017.10:g.59477201C>T |
isolated CHD: VSD |
|
V0528 |
Small Variation |
TBX2 |
NC_000017.10:g.59477347G>A |
isolated CHD: VSD |
|
V0529 |
Small Variation |
TBX2 |
NC_000017.10:g.59477371G>A |
isolated CHD: VSD |
|
V0530 |
Small Variation |
TBX2 |
NC_000017.10:g.59477353delG |
isolated CHD: VSD |
|
V0531 |
Small Variation |
TBX2 |
NC_000017.10:g.59476307G>C |
isolated CHD: VSD |
|
V0532 |
Small Variation |
TBX2 |
NC_000017.10:g.59476704G>C |
isolated CHD: VSD |
|
V0533 |
Small Variation |
TBX2 |
NC_000017.10:g.59476316C>A |
isolated CHD: VSD |
|
V0534 |
Small Variation |
TBX2 |
NC_000017.10:g.59476415T>C |
isolated CHD: VSD |
|
V0535 |
Small Variation |
TBX2 |
NC_000017.10:g.59476510G>C |
isolated CHD: VSD |
|
V0536 |
Small Variation |
TBX2 |
NC_000017.10:g.59476892C>T |
isolated CHD: VSD |
|
V0537 |
Small Variation |
TBX18 |
NC_000006.12:g.84765256G>T |
isolated CHD: VSD |
|
V0538 |
Small Variation |
TBX18 |
NC_000006.12:g.84765234A>T |
isolated CHD: VSD |
|
V0539 |
Small Variation |
TBX18 |
NC_000006.12:g.84765229G>A |
isolated CHD: VSD |
|
V0540 |
Small Variation |
TBX18 |
NC_000006.12:g.84765159G>C |
isolated CHD: VSD |
|
V0541 |
Small Variation |
TBX18 |
NC_000006.12:g.84765153G>A |
isolated CHD: VSD |
|
V0542 |
Small Variation |
TBX18 |
NC_000006.12:g.84764930G>C |
isolated CHD: VSD |
|
V0543 |
Small Variation |
TBX18 |
NC_000006.12:g.84764717del |
isolated CHD: VSD |
|
V0544 |
Small Variation |
TBX18 |
NC_000006.12:g.[84764700=];[84764700C>T] |
isolated CHD: VSD |
|
V0545 |
Small Variation |
TBX18 |
NC_000006.12:g.[84764401=];[84764401C>T] |
isolated CHD: VSD |
|
V0546 |
Small Variation |
TBX18 |
NC_000006.12:g.[84764247=];[84764247C>G] |
isolated CHD: VSD |
|
V0598 |
Small Variation |
PITX2 |
NM_000325.6:c.457A>G |
isolated CHD: VSD |
|
V0599 |
Small Variation |
PITX2 |
NM_000325.6:c.457A>G |
isolated CHD: VSD |
|
V0666 |
Small Variation |
HAS2 |
NM_005328.3:c.1496A>T |
isolated CHD: VSD |
|
V0675 |
Small Variation |
DLC1 |
NM_006094.5:c.1237T>A |
isolated CHD: VSD |
|
V0677 |
Small Variation |
DLC1 |
NM_006094.5:c.2854C>G |
isolated CHD: VSD |
|
V0678 |
Small Variation |
DLC1 |
NM_006094.5:c.4111G>C |
isolated CHD: VSD |
|
V0679 |
Small Variation |
DLC1 |
NM_006094.5:c.4533C>G |
isolated CHD: VSD |
|
V0680 |
Small Variation |
DLC1 |
NM_006094.5:c.1048G>A |
isolated CHD: VSD |
|
V0688 |
Small Variation |
10p14 |
NC_000010.11:g.8919651G>A |
isolated CHD: VSD |
|
V0692 |
Small Variation |
NRP1 |
NM_003873.6:c.2197G>A |
isolated CHD: VSD |
|
V0696 |
Small Variation |
NRP1 |
NC_000010.11:g.33195901G>A |
isolated CHD: VSD |
|
V0700 |
Small Variation |
RPH3A |
NC_000012.12:g.112602139C>T |
isolated CHD: VSD |
|
V0704 |
Small Variation |
GPC5 |
NC_000013.11:g.92342256C>A |
isolated CHD: VSD |
|
V0708 |
Small Variation |
FMN1 |
NC_000015.10:g.32800761G>A |
isolated CHD: VSD |
|
V0714 |
Small Variation |
16q12.2 |
NC_000016.10:g.52797550T>C |
isolated CHD: VSD |
|
V0715 |
Small Variation |
PITX2 |
NM_000325.6:c.272G>A |
isolated CHD: VSD |
|
V0717 |
Small Variation |
PITX2 |
NM_000325.6:c.385A>T |
isolated CHD: VSD |
|
V0719 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V0746 |
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: VSD |
|
V0748 |
Small Variation |
BMP4 |
NM_130851.3:c.455T>C |
isolated CHD: VSD |
|
V0750 |
Small Variation |
BMP4 |
NC_000014.9:g.53951693G>A |
isolated CHD: VSD |
|
V0752 |
Small Variation |
BMP4 |
NC_000014.9:g.53956335A>C |
isolated CHD: VSD |
|
V0761 |
Small Variation |
GATA6 |
NC_000018.10:g.22168449A>G |
isolated CHD: VSD |
|
V0762 |
Small Variation |
GATA6 |
NC_000018.10:g.22168944G>A |
isolated CHD: VSD |
|
V0763 |
Small Variation |
GATA6 |
NC_000018.10:g.22168974G>A |
isolated CHD: VSD |
|
V0764 |
Small Variation |
GATA6 |
NC_000018.10:g.22169190A>T |
isolated CHD: VSD |
|
V0765 |
Small Variation |
GATA6 |
NC_000018.10:g.22169233C>A |
isolated CHD: VSD |
|
V0766 |
Small Variation |
GATA6 |
NC_000018.10:g.22169265G>A |
isolated CHD: VSD |
|
V0767 |
Small Variation |
GATA6 |
NC_000018.10:g.22169278G>A |
isolated CHD: VSD |
|
V0768 |
Small Variation |
GATA6 |
NC_000018.10:g.22169311C>G |
isolated CHD: VSD |
|
V0769 |
Small Variation |
GATA6 |
NC_000018.10:g.22169345C>T |
isolated CHD: VSD |
|
V0770 |
Small Variation |
GATA6 |
NC_000018.10:g.22169346C>G |
isolated CHD: VSD |
|
V0771 |
Small Variation |
GATA6 |
NC_000018.10:g.22169391_22169398delCCTCCTCC |
isolated CHD: VSD |
|
V0816 |
Small Variation |
NTRK3 |
NM_002530.4:c.488A>T |
isolated CHD: VSD |
|
V0817 |
Small Variation |
NTRK3 |
NM_002530.4:c.1597A>T |
isolated CHD: VSD |
|
V0819 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: VSD |
|
V0825 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
isolated CHD: VSD |
|
V0829 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
isolated CHD: VSD |
|
V0833 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
isolated CHD: VSD |
|
V0872 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
isolated CHD: VSD |
|
V0887 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
isolated CHD: VSD |
|
V0890 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
isolated CHD: VSD |
|
V0893 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
isolated CHD: VSD |
|
V0900 |
Small Variation |
NKX2-6 |
NM_001136271.2:c.454A>C |
isolated CHD: VSD |
|
V0907 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
isolated CHD: VSD |
|
V0918 |
Small Variation |
GATA5 |
NC_000020.10:g.61051463delC |
isolated CHD: VSD |
|
V0919 |
Small Variation |
GATA5 |
NC_000020.10:g.62476109A>G |
isolated CHD: VSD |
|
V0920 |
Small Variation |
GATA5 |
NC_000020.10:g.61051379_61051380delGGinsAA |
isolated CHD: VSD |
|
V0921 |
Small Variation |
GATA5 |
NC_000020.10:g.61051373G>A |
isolated CHD: VSD |
|
V0922 |
Small Variation |
GATA5 |
NC_000020.11:g.61051363G>C |
isolated CHD: VSD |
|
V0923 |
Small Variation |
GATA5 |
NC_000020.10:g.61051327A>C |
isolated CHD: VSD |
|
V0924 |
Small Variation |
GATA5 |
NC_000020.10:g.62476223G>A |
isolated CHD: VSD |
|
V0925 |
Small Variation |
GATA5 |
NC_000020.10:g.61051279C>T |
isolated CHD: VSD |
|
V0954 |
Small Variation |
GATA4 |
NM_002052.5:c.-543C>T |
isolated CHD: VSD |
|
V0958 |
Small Variation |
GATA4 |
NM_002052.5:c.-458+5G>A |
isolated CHD: VSD |
|
V0962 |
Small Variation |
GATA4 |
NM_002052.5:c.(642C>T) |
isolated CHD: VSD |
|
V0966 |
Small Variation |
GATA4 |
NM_002052.5:c.997+56C>A |
isolated CHD: VSD |
|
V0970 |
Small Variation |
GATA4 |
NM_002052.5:c.998-332T>G |
isolated CHD: VSD |
|
V0974 |
Small Variation |
GATA4 |
NM_002052.5:c.998-269G>T |
isolated CHD: VSD |
|
V0978 |
Small Variation |
GATA4 |
NM_002052.5:c.998-219G>T |
isolated CHD: VSD |
|
V0982 |
Small Variation |
GATA4 |
NM_002052.5:c.998-180delA |
isolated CHD: VSD |
|
V0986 |
Small Variation |
GATA4 |
NM_002052.5:c.998-128T>C |
isolated CHD: VSD |
|
V0990 |
Small Variation |
GATA4 |
NM_002052.5:c.998-115C>T |
isolated CHD: VSD |
|
V0994 |
Small Variation |
GATA4 |
NM_002052.5:c.998-107T>C |
isolated CHD: VSD |
|
V0998 |
Small Variation |
GATA4 |
NC_000008.11:g.11758186A>G |
isolated CHD: VSD |
|
V1002 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: VSD |
|
V1006 |
Small Variation |
GATA4 |
NM_002052.5:c.1273G>A |
isolated CHD: VSD |
|
V1010 |
Small Variation |
GATA4 |
NC_000008.11:g.11758992T>C |
isolated CHD: VSD |
|
V1014 |
Small Variation |
GATA4 |
NC_000008.11:g.11759007T>C |
isolated CHD: VSD |
|
V1018 |
Small Variation |
GATA4 |
NC_000008.11:g.11759038C>G |
isolated CHD: VSD |
|
V1022 |
Small Variation |
GATA4 |
NC_000008.11:g.11759731A>T |
isolated CHD: VSD |
|
V1026 |
Small Variation |
GATA4 |
NC_000008.11:g.11759996C>G |
isolated CHD: VSD |
|
V1029 |
Small Variation |
TWIST1 |
NM_000474.4:c.247C>T |
isolated CHD: VSD |
|
V1030 |
Small Variation |
TWIST1 |
NM_000474.4:c.283T>C |
isolated CHD: VSD |
|
V1046 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V1047 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V1048 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1049 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1050 |
Small Variation |
NKX2-5 |
NM_004387.4:c.1500G>C |
isolated CHD: VSD |
|
V1061 |
Small Variation |
GATA4 |
NM_001308093.1:c.1220C>A |
isolated CHD: VSD |
|
V1063 |
Small Variation |
TBX5 |
NM_000192.3:c.791G>A |
isolated CHD: VSD |
|
V1070 |
Small Variation |
TBX20 |
NM_001077653.2:c.991A>G |
isolated CHD: VSD |
|
V1095 |
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: VSD |
|
V1096 |
Small Variation |
POU5F1 |
NC_000006.12:N/A |
isolated CHD: VSD |
|
V1102 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1160 |
Small Variation |
HAND2 |
NM_021973.3:c.194G>T |
isolated CHD: VSD |
|
V1178 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
|
V1208 |
Small Variation |
GATA5 |
NM_080473.5:c.(181C>A) |
isolated CHD: VSD |
|
V1225 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: VSD |
|
V1267 |
Small Variation |
CASZ1 |
NM_017766.5:c.113T>C |
isolated CHD: VSD |
|
V1272 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: VSD |
|
V1273 |
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: VSD |
|
V1274 |
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: VSD |
|
V1284 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: VSD |
|
V1287 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: VSD |
|
V1375 |
Small Variation |
IRX1 |
NM_024337.4:c.1142C>A |
isolated CHD: VSD |
|
V1391 |
Small Variation |
TBX5 |
NM_000192.3:c.40C>A |
isolated CHD: VSD |
|
V1434 |
Small Variation |
FIGN |
NC_000002.12:g.163641436C>G |
isolated CHD: VSD |
|
V1491 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V1492 |
Small Variation |
NKX2-5 |
NM_004387.4:c.606G>C |
isolated CHD: VSD |
|
V1493 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: VSD |
|
V1494 |
Small Variation |
NKX2-5 |
NM_004387.4:c.705G>C |
isolated CHD: VSD |
|
V1507 |
Small Variation |
ISL1 |
NC_000005.10:g.51379463C>T |
isolated CHD: VSD |
|
V1510 |
Small Variation |
ISL1 |
NC_000005.10:g.51383716C>T |
isolated CHD: VSD |
|
V1514 |
Small Variation |
ISL1 |
NC_000005.10:g.51356860T>C |
isolated CHD: VSD |
|
V1517 |
Small Variation |
ISL1 |
NC_000005.10:g.51367400C>T |
isolated CHD: VSD |
|
V1520 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: VSD |
|
V1523 |
Small Variation |
ISL1 |
NC_000005.10:g.51394261A>T |
isolated CHD: VSD |
|
V1526 |
Small Variation |
ISL1 |
NC_000005.10:g.51405268C>T |
isolated CHD: VSD |
|
V1529 |
Small Variation |
ISL1 |
NC_000005.10:g.51363954G>A |
isolated CHD: VSD |
|
V1532 |
Small Variation |
ISL1 |
NC_000005.10:g.51370784A>G |
isolated CHD: VSD |
|
V1576 |
Small Variation |
TBX5 |
NM_000192.3:GTGCGGTCCACGCTAAGGTGCGACGAA |
isolated CHD: VSD |
|
V1577 |
Small Variation |
TBX5 |
NM_000192.3:AACAGGGTTGCTCGC |
isolated CHD: VSD |
|
V1578 |
Small Variation |
TBX5 |
NM_000192.3:GC |
isolated CHD: VSD |
|
V1582 |
Small Variation |
MTHFD1 |
NM_001364837.1:c.1958G>A |
isolated CHD: VSD |
|
V1589 |
Small Variation |
STX18 |
NC_000004.12:g.4523099T>C |
isolated CHD: VSD |
|
V1592 |
Small Variation |
STX18 |
NC_000004.12:g.4524521A>G |
isolated CHD: VSD |
|
V1636 |
Small Variation |
RTN4 |
AY102279.1:g.4068_4071insTATC |
isolated CHD: VSD |
|
V1637 |
Small Variation |
RTN4 |
AY102279.1:g.4548_
4554insCAA |
isolated CHD: VSD |
|
V1663 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: VSD |
|
V1670 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: VSD |
|
V1674 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1718 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: VSD |
|
V1719 |
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: VSD |
|
V1720 |
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: VSD |
|
V1727 |
Small Variation |
NFATC1 |
NM_006162.5:CTTTTAGCGCTCTGGTTCGAC |
isolated CHD: VSD |
|
V1728 |
Small Variation |
NFATC1 |
NM_006162.5:TATTCCCTTGATG |
isolated CHD: VSD |
|
V1748 |
Small Variation |
ZW10 |
NM_004724.4:c.105+1291C>T |
isolated CHD: VSD |
|
V1751 |
Small Variation |
ZW10 |
NM_004724.4:c.1089+43T>A |
isolated CHD: VSD |
|
V1754 |
Small Variation |
ZW10 |
NC_000011.10:g.113731833T>G |
isolated CHD: VSD |
|
V1767 |
Small Variation |
MYH6 |
NM_002471.3:c.4822C>T |
isolated CHD: VSD |
|
V1774 |
Small Variation |
MYH6 |
NM_002471.3:c.119C>G |
isolated CHD: VSD |
|
V1777 |
Small Variation |
MYH6 |
NM_002471.3:c.831G>T |
isolated CHD: VSD |
|
V1848 |
Small Variation |
MTHFD1 |
NM_005956.4:c.1958G>A |
isolated CHD: VSD |
|
V1851 |
Small Variation |
NOS3 |
NM_000603.5:c.894T>G |
isolated CHD: VSD |
|
V1854 |
Small Variation |
ACE |
NM_000789.4:c.2350G>A |
isolated CHD: VSD |
|
V2116 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V2117 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172662041G>A |
isolated CHD: VSD |
|
V2118 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173235126G>T |
isolated CHD: VSD |
|
V2119 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173235189T>C |
isolated CHD: VSD |
|
V2120 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172659740C>G |
isolated CHD: VSD |
|
V2121 |
Small Variation |
NKX2-5 |
NC_000005.9:g.172661873G>A |
isolated CHD: VSD |
|
V2139 |
Small Variation |
chrY |
NA |
isolated CHD: VSD |
|
V2171 |
Small Variation |
NKX2-5 |
NM_004387.4:c.543G>A |
isolated CHD: VSD |
|
V2195 |
Small Variation |
N/A |
NA |
isolated CHD: VSD |
|
V2209 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
isolated CHD: VSD |
|
V2218 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V2221 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
isolated CHD: VSD |
|
V2223 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
|
V2229 |
Small Variation |
SOX17 |
NM_022454.4:c.489_510del |
isolated CHD: VSD |
|
V2249 |
Small Variation |
EPAS1 |
NM_001430.5:c.2170G>T |
isolated CHD: VSD |
|
V2256 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: VSD |
|
V2276 |
Small Variation |
GATA4 |
NM_002052.5:c.1263C>T |
isolated CHD: VSD |
|
V2332 |
Small Variation |
GATA4 |
NM_002052.5:c.1220C>A |
isolated CHD: VSD |
|
V2338 |
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: VSD |
|
V2348 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: VSD |
|
V2353 |
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: VSD |
|
V2358 |
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: VSD |
|
V2363 |
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: VSD |
|
V2372 |
Small Variation |
CITED2 |
NM_006079.5:c.548C>T |
isolated CHD: VSD |
|
V2373 |
Small Variation |
CITED2 |
NM_006079.5:c.586A>G |
isolated CHD: VSD |
|
V2375 |
Small Variation |
CITED2 |
NM_006079.5:c.574_579delAGCGGC |
isolated CHD: VSD |
|
V2397 |
Small Variation |
GATA5 |
NM_080473.5:c.569T>C |
isolated CHD: VSD |
|
V2401 |
Small Variation |
GATA5 |
NM_080473.5:c.821A>G |
isolated CHD: VSD |
|
V2411 |
Small Variation |
CBS |
NC_000021.9:g.43076866C>G |
isolated CHD: VSD |
|
V2413 |
Small Variation |
NFATC1 |
NA |
isolated CHD: VSD |
|
V2460 |
Small Variation |
NOTCH1 |
NM_017617.5:c.6797T>C |
isolated CHD: VSD |
|
V2467 |
Small Variation |
CITED2 |
NM_006079.5:c.389A>G |
isolated CHD: VSD |
|
V2468 |
Small Variation |
CITED2 |
NM_006079.5:c.450G>C |
isolated CHD: VSD |
|
V2469 |
Small Variation |
CITED2 |
NM_006079.5:c.512_538del |
isolated CHD: VSD |
|
V2470 |
Small Variation |
CITED2 |
NM_006079.5:c.716_717insG |
isolated CHD: VSD |
|
V2474 |
Small Variation |
CD80 |
NM_005191.4:g.119537362delT |
isolated CHD: VSD |
|
V2475 |
Small Variation |
MYBPC3 |
NM_000256.3:c.1519G>A |
isolated CHD: VSD |
|
V2476 |
Small Variation |
TRDN |
NM_001251987.2:c.134G>T |
isolated CHD: VSD |
|
V2498 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: VSD |
|
V2499 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: VSD |
|
V2500 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: VSD |
|
V2501 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: VSD |
|
V2536 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: VSD |
|
V2537 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: VSD |
|
V2538 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: VSD |
|
V2556 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>T |
isolated CHD: VSD |
|
V2557 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>A |
isolated CHD: VSD |
|
V2568 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>Y |
isolated CHD: VSD |
|
V2569 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>M |
isolated CHD: VSD |
|
V2570 |
Small Variation |
GATA4 |
NG_008177.2:g.83415G>R |
isolated CHD: VSD |
|
V2571 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
isolated CHD: VSD |
|
V2598 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
isolated CHD: VSD |
|
V2599 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
isolated CHD: VSD |
|
V2605 |
Small Variation |
GATA4 |
NM_002052.5:c.1180C>A |
isolated CHD: VSD |
|
C0015 |
CNV |
ZNF710, IDH2, SEMA4B, CIB1, LOC390637, TTLL13, NGRN, ZNF774, QGAP1 |
NA |
isolated CHD: VSD |
|
C0016 |
CNV |
TBX1 |
NA |
isolated CHD: VSD |
|
C0019 |
CNV |
OPCML |
NA |
isolated CHD: VSD |
|
C0027 |
CNV |
BIRC6, TTC27, LTBP1 |
NA |
isolated CHD: VSD |
|
C0137 |
CNV |
NFATC1 |
NA |
isolated CHD: VSD |
|
C0138 |
CNV |
AK097143 |
chr6: g.142187041_142290041del |
isolated CHD: VSD |
|
C0139 |
CNV |
CRKL |
NA |
isolated CHD: VSD |
|
C0158 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0201 |
CNV |
CAT |
|
isolated CHD: VSD |
|
C0205 |
CNV |
LOC283177 |
|
isolated CHD: VSD |
|
C0253 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0266 |
CNV |
NA |
NA |
isolated CHD: VSD |
|
C0418 |
CNV |
BMP5 |
|
isolated CHD: VSD |
|
C0419 |
CNV |
MYH11, NDE1 |
|
isolated CHD: VSD |
|
C0420 |
CNV |
ATP2C2, WFDC1 |
|
isolated CHD: VSD |
|
C0426 |
CNV |
KIF16B |
|
isolated CHD: VSD |
|
C0427 |
CNV |
OCA2 |
|
isolated CHD: VSD |
|
C0428 |
CNV |
MCTP2 |
|
isolated CHD: VSD |
|
C0429 |
CNV |
XRCC5 |
|
isolated CHD: VSD |
|
C0430 |
CNV |
AOAH |
|
isolated CHD: VSD |
|
C0431 |
CNV |
C14orf184, CATSPERB |
|
isolated CHD: VSD |
|
C0432 |
CNV |
RGS21 |
|
isolated CHD: VSD |
|
C0434 |
CNV |
CALN1 |
|
isolated CHD: VSD |
|
C0436 |
CNV |
AASS, CADPS2, FEZF1, PTPRZ1 |
|
isolated CHD: VSD |
|
C0437 |
CNV |
FAM3B, MX2, MX1 |
|
isolated CHD: VSD |
|
C0439 |
CNV |
IGFBP7, LOC255130 |
|
isolated CHD: VSD |
|
C0441 |
CNV |
LBX1 |
|
isolated CHD: VSD |
|
C0442 |
CNV |
TBC1D23 |
|
isolated CHD: VSD |
|
C0446 |
CNV |
PAX3 |
|
isolated CHD: VSD |
|
C0447 |
CNV |
KIAA2022, ABCB7 |
|
isolated CHD: VSD |
|
C0448 |
CNV |
CYSLTR1, GPR174, LPAR4, P2RY10 |
|
isolated CHD: VSD |
|
C0511 |
CNV |
HDHD1, STS, VCX,
PNPLA4,MIR4767 |
chrX: p22.31: g.6460521_8053641del |
isolated CHD: VSD |
|
C0578 |
CNV |
ATRNL1 |
GRCh37 chr10: g.117108537_117433657del |
isolated CHD: VSD |
|
C0581 |
CNV |
MIR548AI, PRKD1 |
GRCh37 chr14: g.29904720_30316660dup |
isolated CHD: VSD |
|
C0583 |
CNV |
CNTN6 |
GRCh37 chr3: g.1145284_1237776del |
isolated CHD: VSD |
|
C0587 |
CNV |
PDSS2, SOBP |
GRCh37 chr6: g.107461798_107814267del |
isolated CHD: VSD |
|
C0588 |
CNV |
IRF4, EXOC2, HUS1B |
GRCh37 chr6: g.366332_771504del |
isolated CHD: VSD |
|
C0592 |
CNV |
SCCPDH, LINC01341,AHCTF1, ZNF695,ZNF670-ZNF695 |
GRCh37 chr1: g.246839121_247179291del |
isolated CHD: VSD |
|
C0595 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
|
C0596 |
CNV |
HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 |
GRCh37 chr22: g.21721591_22423216del |
isolated CHD: VSD |
|
C0656 |
CNV |
PRKAB2 |
NA |
isolated CHD: VSD |
|
C0657 |
CNV |
PPM1K |
NA |
isolated CHD: VSD |