ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0098 | Small Variation | GATA4 | NM_002052.5:c.99G>T | isolated CHD: TA |
V0482 | Small Variation | NFATC1 | NM_172390.3:c.197C>T | isolated CHD: TA |
V0483 | Small Variation | NFATC1 | NM_172390.3:c.2101A>G | isolated CHD: TA |
V0928 | Small Variation | NRP1 | NM_003873.6:c.248+2T>G | isolated CHD: TA |
V0929 | Small Variation | PRKD1 | NM_002742.3:c.1852C>T | isolated CHD: TA |
V1052 | Small Variation | TBX5 | NM_000192.3:c.322C>A | isolated CHD: TA |
V1075 | Small Variation | TBX1 | NM_005992.1:c.928G>A | isolated CHD: TA |
V1144 | Small Variation | NOTCH1 | NM_017617.5:c.7455dupC | isolated CHD: TA |
C0252 | CNV | NA | NA | isolated CHD: TA |
C0265 | CNV | NA | NA | isolated CHD: TA |
C0496 | CNV | NA | NA | isolated CHD: TA |
C0506 | CNV | N/A | chr4: g.102831284_103033486del | isolated CHD: TA |