|
V0014 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345083_218345086delCTTC |
isolated CHD: TOF |
|
V0015 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345173A>C |
isolated CHD: TOF |
|
V0016 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218345400A>G |
isolated CHD: TOF |
|
V0062 |
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
V0180 |
Small Variation |
ISL1 |
NM_002202.3:c.-492A>G |
NA: NA, AVR |
|
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 |
|
V0353 |
Small Variation |
NKX2-5 |
NC_000005.10:g.173236451C>T |
isolated CHD: TOF |
|
V0355 |
Small Variation |
CRKL |
NC_000022.11:g.20961970G>C |
isolated CHD: TOF |
|
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 |
|
V0382 |
Small Variation |
TBX1 |
NC_000022.11:g.19755901C>T |
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 |
|
V0474 |
Small Variation |
TBX3 |
NC_000012.12:g.114685070C>A |
isolated CHD: VSD |
|
V0489 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V0490 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: VSD |
|
V0527 |
Small Variation |
TBX2 |
NC_000017.10:g.59477201C>T |
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 |
|
V0547 |
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V0615 |
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V0724 |
Small Variation |
MIR143 |
NC_000005.10:g.149428827G>A |
isolated CHD/non-isolated CHD: NA |
|
V0745 |
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: ASD |
|
V0746 |
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: VSD |
|
V0753 |
Small Variation |
BMP4 |
NC_000014.9:g.53958334C>A |
isolated CHD: VSD/ASD |
|
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 |
|
V0895 |
Small Variation |
VEGFA |
NM_003376.6:c.-634G>C |
isolated CHD: AVSD |
|
V0918 |
Small Variation |
GATA5 |
NC_000020.10:g.61051463delC |
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 |
|
V0923 |
Small Variation |
GATA5 |
NC_000020.10:g.61051327A>C |
isolated CHD: VSD |
|
V0925 |
Small Variation |
GATA5 |
NC_000020.10:g.61051279C>T |
isolated CHD: VSD |
|
V0944 |
Small Variation |
VEGFA |
NC_000006.12:g.43768652A>C |
isolated CHD: TOF |
|
V0945 |
Small Variation |
VEGFA |
NC_000006.12:g.43769749C>T |
isolated CHD: TOF |
|
V0946 |
Small Variation |
VEGFA |
NC_000006.12:g.43770093A>G |
isolated CHD: TOF |
|
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 |
|
V1102 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1103 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
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 |
|
V1124 |
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: NA |
|
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 |
|
V1172 |
Small Variation |
EDEM2 |
NM_018217.3:c.-1753C>A |
isolated CHD: AS/ CoA/BAV/VSD/IAA/HLHS |
|
V1190 |
Small Variation |
BMPR2 |
NM_001204.7:c.-212_-211insC |
isolated CHD/non-isolated CHD: PVD |
|
V1236 |
Small Variation |
NFATC1 |
NC_000018.10:g.79395184G>A |
isolated CHD/non-isolated CHD: NA |
|
V1238 |
Small Variation |
KDR |
NC_000004.12:g.55131173A>G |
isolated CHD/non-isolated CHD: NA |
|
V1240 |
Small Variation |
KDR |
NC_000004.12:g.55126199A>G |
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 |
|
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 |
|
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 |
|
V1258 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30064718A>G |
isolated CHD/non-isolated CHD: NA |
|
V1395 |
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1405 |
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
V1415 |
Small Variation |
TBX20 |
NC_000007.14:g.35254361A>G |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1519 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
NA: NA |
|
V1520 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: VSD |
|
V1521 |
Small Variation |
ISL1 |
NC_000005.10:g.51383180A>G |
isolated CHD: ASD |
|
V1535 |
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V1536 |
Small Variation |
TGFβ1 |
NM_000660.7:c.-1347T>C |
isolated CHD: TGA |
|
V1538 |
Small Variation |
MTR |
NM_000254.2:c.-472G>T |
NA: NA |
|
V1540 |
Small Variation |
NFKB1 |
NC_000004.12:g.102500998_102501001delATTG |
isolated CHD: ASD |
|
V1600 |
Small Variation |
NFATC1 |
NC_000018.10:g.79395184G>A |
isolated CHD/non-isolated CHD: NA |
|
V1602 |
Small Variation |
KDR |
NC_000004.12:g.55131173A>G |
isolated CHD/non-isolated CHD: NA |
|
V1604 |
Small Variation |
KDR |
NC_000004.12:g.55126199A>G |
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 |
|
V1611 |
Small Variation |
TNFSF11 |
NC_000013.11:g.42560995A>G |
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 |
|
V1619 |
Small Variation |
ZNRD1 |
NC_000006.12:g.30064718A>G |
isolated CHD/non-isolated CHD: NA |
|
V1631 |
Small Variation |
NPPB |
NC_000001.11:g.11859214A>G |
NA: 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 |
|
V1660 |
Small Variation |
VEGFA |
NM_001025366.3:c.-460T>C |
isolated CHD/non-isolated CHD: NA |
|
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 |
|
V1674 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: VSD |
|
V1675 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
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 |
|
V1678 |
Small Variation |
VANGL2 |
NC_000001.11:g.160399582T>G |
isolated CHD: TOF |
|
V1679 |
Small Variation |
VANGL2 |
NC_000001.11:g.160400029T>G |
isolated CHD: TOF |
|
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 |
|
V1810 |
Small Variation |
N/A |
NC_000004.12:g.13632183delT |
isolated CHD: TOF |
|
V1811 |
Small Variation |
GPSM1 |
NC_000009.12:g.136327352_136327358delCCCCCTC |
isolated CHD: TOF |
|
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 |
|
V2256 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD: VSD |
|
V2257 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: ASD, VSD |
|
V2258 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: DCRV, VSD |
|
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 |
|
V2262 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
isolated CHD/complex CHD: NA |
|
V2263 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
NA: NA |
|
V2337 |
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD/non-isolated CHD: ASD/VSD/TOF/PDA/other |
|
V2338 |
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: VSD |
|
V2339 |
Small Variation |
GDF1 |
NM_001492.6:c.-1841T>G |
isolated CHD: TOF |
|
V2347 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: ASD |
|
V2348 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: VSD |
|
V2349 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
non-isolated CHD: ASD, VSD |
|
V2350 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: PDA |
|
V2351 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: TOF |
|
V2488 |
Small Variation |
FOXC2 |
NC_000016.10:g.86566824C>G |
isolated CHD: HLHS |