V0085 |
Small Variation |
GATA4 |
NM_002052.5:c.699G>A |
non-isolated CHD: TOF, PA |
V0086 |
Small Variation |
GATA4 |
NM_002052.5:c.822C>T |
non-isolated CHD: TOF, PA |
V0097 |
Small Variation |
GATA4 |
NM_002052.5:c.13T>C |
non-isolated CHD: TOF, PA |
V0143 |
Small Variation |
GATA4 |
NM_002052.5:c.15G>A |
non-isolated CHD: TOF, PA |
C0013 |
CNV |
NA |
chr1: g.144967972_144968852dup |
non-isolated CHD: TOF, PA |
C0203 |
CNV |
EHBP1L1, LTBP3, MAP3K11, PCNXL3, SCYL1, SSSCA1 |
|
non-isolated CHD: TOF, PA |
C0212 |
CNV |
CYFIP1 |
|
non-isolated CHD: TOF, PA |
C0219 |
CNV |
C5AR1, C5AR2, DHX34 |
|
non-isolated CHD: TOF, PA |
C0226 |
CNV |
PCBP1 |
|
non-isolated CHD: TOF, PA |