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