| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32565808G>T | CA266902 | DMD | c.1517C>A (p.Ser506Ter) n.2093C>A c.*385C>A (n.*385C>A) c.1862C>A (p.Ser621Ter) c.1886C>A (p.Ser629Ter) c.1874C>A (p.Ser625Ter) c.94-200609C>A (n.94-200609C>A) c.94-201098C>A (n.94-201098C>A) n.336-348745C>A c.1757C>A (p.Ser586Ter) | ClinVar dbSNP |
| X | g.32565808G>C | CA412672763 | DMD | c.1517C>G (p.Ser506Ter) n.2093C>G c.*385C>G (n.*385C>G) c.1862C>G (p.Ser621Ter) c.1886C>G (p.Ser629Ter) c.1874C>G (p.Ser625Ter) c.94-200609C>G (n.94-200609C>G) c.94-201098C>G (n.94-201098C>G) n.336-348745C>G c.1757C>G (p.Ser586Ter) | dbSNP |