|
V0039 |
Small Variation |
MS |
NA |
isolated CHD: PDA |
|
V0066 |
Small Variation |
CBS |
NM_000071.2:c.919G>A |
isolated CHD: PDA |
|
V0149 |
Small Variation |
NKX2-5 |
NM_004387.4:c.239A>G |
isolated CHD: PDA |
|
V0255 |
Small Variation |
TFAP2B |
NM_003221.4:c.1-34G>A |
isolated CHD: PDA |
|
V0256 |
Small Variation |
TFAP2B |
NM_003221.4:c.539+62G>C |
isolated CHD: PDA |
|
V0257 |
Small Variation |
TFAP2B |
NM_003221.4:c.601+5G>A |
isolated CHD: PDA |
|
V0258 |
Small Variation |
TFAP2B |
NM_003221.4:c.435_438delCCGG |
isolated CHD: PDA |
|
V0341 |
Small Variation |
NODAL |
NM_003888.4:c.607G>A |
isolated CHD: PDA |
|
V0348 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: PDA |
|
V0410 |
Small Variation |
GATA4 |
NM_002052.5:c.-113A>G |
isolated CHD: PDA |
|
V0413 |
Small Variation |
GATA4 |
NM_002052.5:c.784-16G>A |
isolated CHD: PDA |
|
V0419 |
Small Variation |
GATA4 |
NM_002052.5:c.1146+25_1146+26insA |
isolated CHD: PDA |
|
V0421 |
Small Variation |
GATA4 |
NM_002052.5:c.1326G>A |
isolated CHD: PDA |
|
V0423 |
Small Variation |
GATA4 |
NM_002052.5:c.63A>G |
isolated CHD: PDA |
|
V0425 |
Small Variation |
NKX2-5 |
NM_004387.4:c.*61G>T |
isolated CHD: PDA |
|
V0430 |
Small Variation |
TFAP2B |
NM_003221.4:c.540+31_540+32insCAAA |
isolated CHD: PDA |
|
V0431 |
Small Variation |
TFAP2B |
NM_003221.4:c.821+86C>T |
isolated CHD: PDA |
|
V0435 |
Small Variation |
TFAP2B |
NM_003221.4:c.1006G>A |
isolated CHD: PDA |
|
V0462 |
Small Variation |
GDF1 |
NC_000019.10:g.18878511T>C |
isolated CHD: PDA |
|
V0670 |
Small Variation |
MTHFR |
NM_005957.5:c.665C>T |
isolated CHD: PDA |
|
V0671 |
Small Variation |
MTHFR |
NM_005957.5:c.1286A>C |
isolated CHD: PDA |
|
V0676 |
Small Variation |
DLC1 |
NM_006094.5:c.1683C>A |
isolated CHD: PDA |
|
V0683 |
Small Variation |
DLC1 |
NM_006094.5:c.1298C>A |
isolated CHD: PDA |
|
V0684 |
Small Variation |
DLC1 |
NM_006094.5:c.1661_1662delinsTC |
isolated CHD: PDA |
|
V0743 |
Small Variation |
NOS3 |
NM_000603.5:c.3106+11G>T |
isolated CHD: PDA |
|
V0903 |
Small Variation |
TFAP2B |
NM_003221.4:c.(854G>A) |
isolated CHD: PDA |
|
V1103 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
V1180 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PDA |
|
V1227 |
Small Variation |
GATA4 |
NM_001308093.1:c.931C>T |
isolated CHD: PDA |
|
V1275 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: PDA |
|
V1276 |
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: PDA |
|
V1277 |
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: PDA |
|
V1427 |
Small Variation |
KCNH2 |
NM_000238.4:c.(1591C>T) |
isolated CHD: PDA |
|
V1481 |
Small Variation |
CITED2 |
NM_001168388.2:c.428G>C |
isolated CHD: PDA |
|
V1559 |
Small Variation |
TFAP2B |
NM_003221.4:c.1-34G>A |
isolated CHD: PDA |
|
V1560 |
Small Variation |
TFAP2B |
NM_003221.4:c.539+62G>C |
isolated CHD: PDA |
|
V1665 |
Small Variation |
MTHFR |
NM_005957.5:c.677T>C |
isolated CHD: PDA |
|
V1669 |
Small Variation |
TGFβ2 |
NC_000001.11:g.218347653A>G |
isolated CHD: PDA |
|
V1675 |
Small Variation |
GATA4 |
NM_002052.5:c.196G>C |
isolated CHD: PDA |
|
V1721 |
Small Variation |
MIR196A2 |
NC_000012.12:g.53991815C>T |
isolated CHD: PDA |
|
V1722 |
Small Variation |
MIR27A |
NC_000019.10:g.13836478T>C |
isolated CHD: PDA |
|
V1723 |
Small Variation |
MIR499A |
NC_000020.11:g.34990448A>G |
isolated CHD: PDA |
|
V1785 |
Small Variation |
CSRP1 |
NM_004078.3:c.447_460dupTGGCAAAGGCCTTG |
isolated CHD: PDA |
|
V2173 |
Small Variation |
MIB1 |
NM_020774.3:c.711G>C |
isolated CHD: PDA |
|
V2233 |
Small Variation |
SOX17 |
NM_022454.4:c.284A>G |
isolated CHD: PDA |
|
V2235 |
Small Variation |
SOX17 |
NM_022454.4:c.226A>G |
isolated CHD: PDA |
|
V2248 |
Small Variation |
EPAS1 |
NM_001430.5:c.607A>C |
isolated CHD: PDA |
|
V2350 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
isolated CHD: PDA |
|
V2355 |
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
isolated CHD: PDA |
|
V2360 |
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
isolated CHD: PDA |
|
V2365 |
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
isolated CHD: PDA |
|
V2539 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
isolated CHD: PDA |
|
V2540 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
isolated CHD: PDA |
|
V2541 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
isolated CHD: PDA |
|
V2542 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
isolated CHD: PDA |
|
V2543 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
isolated CHD: PDA |
|
V2565 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
isolated CHD: PDA |
|
V2566 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
isolated CHD: PDA |
|
C0143 |
CNV |
WWOX, CLEC3A, VAT1L |
chr16: g.76450854_76562854dup |
isolated CHD: PDA |