ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V2182 | Small Variation | NOTCH1 | NM_017617.5:c.6105del | isolated CHD: MOT |
V2186 | Small Variation | NF1 | NM_000267.3:c.3560T>G | isolated CHD: MOT |
V2187 | Small Variation | TLL1 | NM_012464.5:c.2578A>G | isolated CHD: MOT |