| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S2291 | downstream_gene_variant | POU5F1 | NC_000006.12:g.31164308T>C | C/C | isolated CHD: ASD |
| S2292 | downstream_gene_variant | POU5F1 | NC_000006.12:g.31164308T>C | T/C | isolated CHD: ASD |
| S2293 | downstream_gene_variant | POU5F1 | NC_000006.12:g.31164308T>C | T/T | isolated CHD: ASD |
| S2294 | downstream_gene_variant | POU5F1 | NC_000006.12:g.31164308T>C | T/C+T/T | isolated CHD: ASD |