ID Type Gene/Location Detail CHD Type
V0148 Small Variation NKX2-5 NM_004387.4:c.239A>G isolated CHD: PS
V0200 Small Variation HAND2 NM_021973.3:c.*869T>A isolated CHD: PS
V0202 Small Variation HAND2 NM_021973.3:c.*869T>A isolated CHD: PS
V0243 Small Variation NFATc1 NM_006162.5:c.1920+56_1920+99dup isolated CHD: PS
V0510 Small Variation GATA4 NM_001308093.1:c.221C>A isolated CHD: PS
V0682 Small Variation DLC1 NM_006094.5:c.1252G>A isolated CHD: PS
V1104 Small Variation GATA4 NM_002052.5:c.196G>C isolated CHD: PS
V1207 Small Variation GATA5 NM_080473.5:c.(188G>C) isolated CHD: PS
V1562 Small Variation NFATc1 NM_006162.5:c.1920+56_1920+99dup isolated CHD: PS
V1676 Small Variation GATA4 NM_002052.5:c.196G>C isolated CHD: PS
V1769 Small Variation MYH6 NM_002471.3:c.4193G>A isolated CHD: PS
V1770 Small Variation NOTCH1 NM_017617.5:c.6949G>T isolated CHD: PS
V2032 Small Variation GATA4 NG_008177.2:g.76885T>C isolated CHD: PS
V2033 Small Variation GATA4 NG_008177.2:g.83271C>A isolated CHD: PS
V2034 Small Variation GATA4 NG_008177.2:g.83502A>M isolated CHD: PS
V2035 Small Variation GATA4 NG_008177.2:g.85342C>Y isolated CHD: PS
V2036 Small Variation GATA4 NG_008177.2:g.86268A>R isolated CHD: PS
V2037 Small Variation GATA4 NG_008177.2:g.87409G>R isolated CHD: PS
V2038 Small Variation GATA4 NG_008177.2:g.87813A>W isolated CHD: PS
V2213 Small Variation NKX2-5 NM_004387.4:c.606G>C isolated CHD: PS
C0018 CNV NA NA isolated CHD: PS
C0243 CNV NA NA isolated CHD: PS