|
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 |
|
V0010 |
Small Variation |
TBX20 |
NM_001077653.2:c.774T>C |
isolated CHD/non-isolated CHD: NA |
|
V0043 |
Small Variation |
MS |
NA |
isolated CHD/non-isolated CHD: NA |
|
V0062 |
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
V0379 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V0724 |
Small Variation |
MIR143 |
NC_000005.10:g.149428827G>A |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1185 |
Small Variation |
BMPR2 |
NM_001204.7:c.529+13A>C |
isolated CHD/non-isolated CHD: NA |
|
V1199 |
Small Variation |
BMPR2 |
NM_001204.7:c.276A>C |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
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 |
|
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 |
|
V1553 |
Small Variation |
GDF1 |
NG_012070.1:g.[27111C>T;23288A>G;22634A>G;22095C>T] |
isolated CHD/non-isolated CHD: NA |
|
V1585 |
Small Variation |
MS |
NA |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
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 |
|
V1633 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD/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 |
|
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 |
|
V1672 |
Small Variation |
MIR143 |
NC_000005.10:g.149428827G>A |
isolated CHD/non-isolated CHD: 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 |
|
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 |
|
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 |
|
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 |