| ID | Type | Gene/Location | Detail | CHD Type |
|---|---|---|---|---|
| V0575 | Small Variation | SMAD7 | NM_005904.3:c.894C>T | isolated CHD: SD |
| V0576 | Small Variation | SMAD7 | NM_005904.3:c.1206C>G | isolated CHD: SD |
| V1261 | Small Variation | GART | NM_032195.2:c.77+1138T>C | isolated CHD: SD |
| V1263 | Small Variation | GART | NM_000819.5:c.1298+114G>C | isolated CHD: SD |
| V2189 | Small Variation | HNRNPK | NM_002140.4:c.1259C>T | isolated CHD: SD |
| V2404 | Small Variation | CBS | NC_000021.9:g.43076866C>G | isolated CHD: SD |