|
S2419 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
non-isolated CHD: BAV, AS, AVI |
|
S2420 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: AVS |
|
S2421 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: BAV |
|
S2422 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: AVI |
|
S2423 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
non-isolated CHD: AVI, MVR |
|
S2424 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: AVI |
|
S2425 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: BAV |
|
S2426 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
non-isolated CHD: BAV, AVI |
|
S2427 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
non-isolated CHD: BAV, AVI |
|
S2428 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
non-isolated CHD: BAV, VSD |
|
S2429 |
stop_gained |
NOTCH1 |
NM_017617.5:c.1650C>G |
G |
isolated CHD: TOF |
|
S2430 |
splice_region_variant |
NOTCH1 |
NM_017617.5:c.1670-7G>A |
A |
non-isolated CHD: BAV, AVS, AVR |
|
S2431 |
splice_region_variant |
NOTCH1 |
NM_017617.5:c.1670-7G>A |
A |
non-isolated CHD: BAV, AVS, MVS, AVR, MVR |
|
S2432 |
splice_region_variant |
NOTCH1 |
NM_017617.5:c.1670-7G>A |
A |
non-isolated CHD: PVS, VSD |
|
S2433 |
splice_region_variant |
NOTCH1 |
NM_017617.5:c.1670-7G>A |
A |
non-isolated CHD: BAV, AVI, AVS, AVR, TAA |
