Table 3 Mutations in Sox10 binding site in GJB1 promoter causing Charcot-Marie-Tooth disease
From: Establishing and validating regulatory regions for variant annotation and expression analysis
Chromosome | Sox10 site start | Sox10 site end | Variant coordinate | Variation |
|---|---|---|---|---|
X | 70443016 | 70443033 | 70443018 | C > G |
X | 70443016 | 70443033 | 70443029 | T > G |
X | 70443016 | 70443033 | 70443029 | T > C |
X | 70443016 | 70443033 | 70443031 | G > C |