ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0245 | Small Variation | NFATC1 | NM_006162.5:c.1920+56_1920+99dup | isolated CHD: valvulo septal defects |
V0246 | Small Variation | NFATC1 | NM_006162.5:c.(2251T>G) | isolated CHD: valvulo septal defects |
V0936 | Small Variation | TBX1 | NM_005992.1:c.829C>T | isolated CHD: valvulo septal defects |
V1564 | Small Variation | NFATC1 | NM_006162.5:c.1920+56_1920+99dup | isolated CHD: valvulo septal defects |
V1565 | Small Variation | NFATC1 | NM_006162.5:c.2251T>G | isolated CHD: valvulo septal defects |