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 |