| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31478314T>A | CA285620 | DMD | c.3575A>T (p.Glu1192Val) c.1349A>T (p.Glu450Val) n.2194A>T n.2221A>T c.584A>T (p.Glu195Val) c.8729A>T (p.Glu2910Val) c.4697A>T (p.Glu1566Val) n.2390A>T c.542A>T (p.Glu181Val) c.1817A>T (p.Glu606Val) c.8717A>T (p.Glu2906Val) c.8714A>T (p.Glu2905Val) c.8726A>T (p.Glu2909Val) c.8705A>T (p.Glu2902Val) c.8360A>T (p.Glu2787Val) c.4706A>T (p.Glu1569Val) c.8600A>T (p.Glu2867Val) c.8591A>T (p.Glu2864Val) c.8606A>T (p.Glu2869Val) c.2903A>T (p.Glu968Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31478314T>C | CA412654287 | DMD | c.3575A>G (p.Glu1192Gly) c.1349A>G (p.Glu450Gly) n.2194A>G n.2221A>G c.584A>G (p.Glu195Gly) c.8729A>G (p.Glu2910Gly) c.4697A>G (p.Glu1566Gly) n.2390A>G c.542A>G (p.Glu181Gly) c.1817A>G (p.Glu606Gly) c.8717A>G (p.Glu2906Gly) c.8714A>G (p.Glu2905Gly) c.8726A>G (p.Glu2909Gly) c.8705A>G (p.Glu2902Gly) c.8360A>G (p.Glu2787Gly) c.4706A>G (p.Glu1569Gly) c.8600A>G (p.Glu2867Gly) c.8591A>G (p.Glu2864Gly) c.8606A>G (p.Glu2869Gly) c.2903A>G (p.Glu968Gly) | dbSNP |