| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32484931C>T | CA412670659 | DMD | n.2998G>A c.2791G>A (p.Glu931Lys) c.2779G>A (p.Glu927Lys) c.94-119732G>A (n.94-119732G>A) c.94-120221G>A (n.94-120221G>A) n.336-267868G>A c.2767G>A (p.Glu923Lys) c.2422G>A (p.Glu808Lys) c.2662G>A (p.Glu888Lys) | dbSNP |
| X | g.32484931C>A | CA341019 | DMD | n.2998G>T c.2791G>T (p.Glu931Ter) c.2779G>T (p.Glu927Ter) c.94-119732G>T (n.94-119732G>T) c.94-120221G>T (n.94-120221G>T) n.336-267868G>T c.2767G>T (p.Glu923Ter) c.2422G>T (p.Glu808Ter) c.2662G>T (p.Glu888Ter) | ClinVar dbSNP |