Table 4 Mutations in HNF-4 binding site in F7 promoter causing Factor VII deficiency
From: Establishing and validating regulatory regions for variant annotation and expression analysis
Chromosome | HNF-4 site start | HNF-4 site end | Variant coordinate | Variation |
|---|---|---|---|---|
13 | 113760083 | 113760109 | 113760091 | G > C |
13 | 113760083 | 113760109 | 113760094 | C > T |
13 | 113760083 | 113760109 | 113760095 | T > G |
13 | 113760083 | 113760109 | 113760096 | T > G |
13 | 113760083 | 113760109 | 113760097 | T > G |
13 | 113760083 | 113760109 | 113760099 | C > T |
13 | 113760083 | 113760109 | 113760101 | C > T |