|
V0001 |
Small Variation |
NKX2-5 |
NM_004387.4:c.792C>A |
isolated CHD: ASD |
|
V0073 |
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
isolated CHD: MVA |
|
V0074 |
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
non-isolated CHD: DCM, apicolateral hypertrophy |
|
V0075 |
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
non-isolated CHD: MVS, LV |
|
V0076 |
Small Variation |
TBX20 |
NM_001077653.2:c.583C>T |
isolated CHD: CHD with PAH |
|
V0077 |
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, AV block, AF |
|
V0078 |
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, VSD, AV block |
|
V0079 |
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PAS, AV block |
|
V0080 |
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PFO, AV block |
|
V0081 |
Small Variation |
NKX2-5 |
NM_004387.4:c.325G>T |
non-isolated CHD: ASD, PFO, AV block |
|
V0442 |
Small Variation |
GATA6 |
NM_005257.5:c.1378G>T |
isolated CHD: TOF |
|
V0480 |
Small Variation |
GATA6 |
NM_005257.5:c.1099G>T |
isolated CHD: TOF |
|
V0658 |
Small Variation |
FANCM |
NM_020937.4:c.5101C>T |
isolated CHD: TOF |
|
V0673 |
Small Variation |
GATA5 |
NM_080473.5:c.624C>A |
isolated CHD: TOF |
|
V0815 |
Small Variation |
NKX2-6 |
NM_001136271.2:c.529A>T |
non-isolated CHD: DORV, VSD |
|
V0858 |
Small Variation |
WNT4 |
NM_030761.5:c.129C>A |
isolated CHD: BAV |
|
V0929 |
Small Variation |
PRKD1 |
NM_002742.3:c.1852C>T |
isolated CHD: TA |
|
V0933 |
Small Variation |
NKX2-5 |
NM_004387.4:c.(723_730delTGCGGCAT) |
isolated CHD: ASD |
|
V0935 |
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
non-isolated CHD: VSD, PDA |
|
V0936 |
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
isolated CHD: valvulo septal defects |
|
V0937 |
Small Variation |
TBX1 |
NM_005992.1:c.829C>T |
non-isolated CHD: DORV, VSD |
|
V1135 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5950C>T |
non-isolated CHD: AVS, TAA |
|
V1139 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
isolated CHD: AS |
|
V1140 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
isolated CHD: AVI |
|
V1141 |
Small Variation |
NOTCH1 |
NM_017617.5:c.5529G>A |
non-isolated CHD: CoA, BAV, AVS, MVS, MI |
|
V1152 |
Small Variation |
NOTCH1 |
NM_017617.5:c.3054C>A |
isolated CHD: HLHS |
|
V1153 |
Small Variation |
NOTCH1 |
NM_017617.5:c.1650C>G |
NA: Normal echo |
|
V1154 |
Small Variation |
NOTCH1 |
NM_017617.5:c.1650C>G |
non-isolated CHD: BAV, AS, AVI |
|
V1192 |
Small Variation |
BMPR2 |
NM_001204.7:c.1196C>G |
isolated CHD/non-isolated CHD: PVD |
|
V1436 |
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
non-isolated CHD: TOF, ASD |
|
V1437 |
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
isolated CHD: TOF |
|
V1438 |
Small Variation |
TBX20 |
NM_001077653.2:c.820A>T |
non-isolated CHD: PTA, VSD |
|
V1463 |
Small Variation |
NOTCH1 |
NM_017617.5:c.4662C>A |
isolated CHD: HLHS |
|
V1729 |
Small Variation |
MESP1 |
NM_018670.3:c.352C>T |
non-isolated CHD: DORV, VSD |
|
V2184 |
Small Variation |
MYH6 |
NM_002471.3:c.5794A>T |
isolated CHD: OL |
|
V2234 |
Small Variation |
SOX17 |
NM_022454.4:c.388C>T |
isolated CHD: ASD |
|
V2291 |
Small Variation |
PUM1 |
NM_014676.3:c.1738C>T |
non-isolated CHD: AA, HRV, MGA |