| ID | Type | Gene/Location | Detail | CHD Type |
|---|---|---|---|---|
| V1202 | Small Variation | GATA5 | NM_080473.5:c.(865A>G) | isolated CHD: AVC |
| V2340 | Small Variation | BMPR2 | NM_001204.7:c.304A>G | isolated CHD: AVC |
| V2341 | Small Variation | BMPR2 | NM_001204.7:c.319T>C | isolated CHD: AVC |
| C0590 | CNV | ANKRD11, LOC101927817,SPG7, RPL13, SNORD68,CPNE7 | GRCh37 chr16: g.89475450_89652148del | isolated CHD: AVC |
| C0598 | CNV | HIC2, RIMBP3B, RIMBP3C,TMEM191C, PI4KAP2,UBE2L3, YDJC, CCDC116,SDF2L1, MIR130B, MIR301B,PPIL2, YPEL1, MAPK1, PPM1F,TOP3B, IGLC1 | GRCh37 chr22: g.21721591_22423216del | isolated CHD: AVC |