ID Type Gene/Location Detail CHD Type
V0292 Small Variation GATA4 NM_002052.5:c.127C>T non-isolated CHD: VSD, ASD
V0376 Small Variation GATA4 NM_001308093.1:c.286G>A non-isolated CHD: VSD, ASD
V0624 Small Variation CITED2 NM_001168388.2:c.573_578del6 non-isolated CHD: VSD, ASD
V1112 Small Variation NKX2-5 NM_004387.4:c.112delG non-isolated CHD: VSD, ASD
V2134 Small Variation chr21 NA non-isolated CHD: VSD, ASD
V2137 Small Variation chr5, chr11 NA non-isolated CHD: VSD, ASD
C0025 CNV RAI1 NA non-isolated CHD: VSD, ASD
C0421 CNV ACOX3, C4orf23, HTRA3, SH3TC1 chr4: g.8270586_8498212del non-isolated CHD: VSD, ASD
C0422 CNV CACNG3, CHP2, PLK1, PRKCB, XYLT1 chr16: g.16574972_28505961dup non-isolated CHD: VSD, ASD