ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0032 | Small Variation | CFC1 | NM_001270420.1:c.(520_522del) | non-isolated CHD: DORV, VSD, AAH |
V0191 | Small Variation | CITED2 | NM_001168388.2:c.573_578del | non-isolated CHD: AS, PS |
V0623 | Small Variation | CITED2 | NM_001168388.2:c.573_578del6 | non-isolated CHD: AS, PVS |
V0624 | Small Variation | CITED2 | NM_001168388.2:c.573_578del6 | non-isolated CHD: VSD, ASD |
V1198 | Small Variation | BMPR2 | NM_001204.7:c.180_182del | isolated CHD/non-isolated CHD: PVD |