|
V0240 |
Small Variation |
GATA4 |
NM_002052.5:c.62G>T |
non-isolated CHD: ASD, VSD |
|
V0507 |
Small Variation |
GATA4 |
NM_001308093.1:c.744C>T |
non-isolated CHD: ASD, VSD |
|
V0826 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4646320C>T |
non-isolated CHD: ASD, VSD |
|
V0830 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4633549C>A |
non-isolated CHD: ASD, VSD |
|
V0834 |
Small Variation |
STX18-AS1 |
NC_000004.12:g.4612553C>T |
non-isolated CHD: ASD, VSD |
|
V0875 |
Small Variation |
EPRS |
NM_004446.3:c.924C>A |
non-isolated CHD: ASD, VSD |
|
V0888 |
Small Variation |
EPRS |
NM_004446.3:c.*125G>A |
non-isolated CHD: ASD, VSD |
|
V0891 |
Small Variation |
EPRS |
NM_004446.3:c.3405G>A |
non-isolated CHD: ASD, VSD |
|
V0894 |
Small Variation |
EPRS |
NM_004446.3:c.3102G>A |
non-isolated CHD: ASD, VSD |
|
V0905 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
V0908 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
V0909 |
Small Variation |
TBX5 |
NM_000192.3:N/A |
non-isolated CHD: ASD, VSD |
|
V0912 |
Small Variation |
TBX5 |
NM_000192.3:c.(497A>G) |
non-isolated CHD: ASD, VSD |
|
V2211 |
Small Variation |
NKX2-5 |
NM_004387.4:c.63A>G |
non-isolated CHD: ASD, VSD |
|
V2219 |
Small Variation |
GATA4 |
NM_002052.5:c.99G>T |
non-isolated CHD: ASD, VSD |
|
V2257 |
Small Variation |
TBX2 |
NM_005994.4:c.-1028G>C |
non-isolated CHD: ASD, VSD |
|
V2274 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: ASD, VSD |
|
V2349 |
Small Variation |
EDNRA |
NC_000004.12:g.147459653T>C |
non-isolated CHD: ASD, VSD |
|
V2354 |
Small Variation |
SMARCA2 |
NC_000009.12:g.2210993C>T |
non-isolated CHD: ASD, VSD |
|
V2359 |
Small Variation |
N/A |
NC_000012.12:g.114854163A>G |
non-isolated CHD: ASD, VSD |
|
V2364 |
Small Variation |
PTPRT |
NC_000020.11:g.42807024T>C |
non-isolated CHD: ASD, VSD |
|
V2510 |
Small Variation |
GATA4 |
NG_008177.2:g.76885T>C |
non-isolated CHD: ASD, VSD |
|
V2511 |
Small Variation |
GATA4 |
NG_008177.2:g.83271C>A |
non-isolated CHD: ASD, VSD |
|
V2512 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>M |
non-isolated CHD: ASD, VSD |
|
V2513 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>W |
non-isolated CHD: ASD, VSD |
|
V2514 |
Small Variation |
GATA4 |
NG_008177.2:g.76937G>S |
non-isolated CHD: ASD, VSD |
|
V2517 |
Small Variation |
GATA4 |
NG_008177.2:g.83502A>C |
non-isolated CHD: ASD, VSD |
|
V2518 |
Small Variation |
GATA4 |
NG_008177.2:g.87813A>T |
non-isolated CHD: ASD, VSD |
|
V2560 |
Small Variation |
GATA4 |
NG_008177.2:g.85342C>Y |
non-isolated CHD: ASD, VSD |
|
V2561 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>G |
non-isolated CHD: ASD, VSD |
|
V2562 |
Small Variation |
GATA4 |
NG_008177.2:g.87409G>R |
non-isolated CHD: ASD, VSD |
|
V2563 |
Small Variation |
GATA4 |
NM_002052.5:c.1129A>G |
non-isolated CHD: ASD, VSD |
|
V2564 |
Small Variation |
GATA4 |
NG_008177.2:g.86268A>R |
non-isolated CHD: ASD, VSD |
|
C0593 |
CNV |
RNPS1, MIR3677, MIR940,MIR4717, ABCA3 |
GRCh37 chr17: g.43868982_44378247del |
non-isolated CHD: ASD, VSD |