| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31836813C>T | CA412659427 | DMD | c.1951G>A (p.Glu651Lys) c.-276G>A (n.-276G>A) n.766G>A n.688G>A n.597G>A c.7105G>A (p.Glu2369Lys) c.3073G>A (p.Glu1025Lys) c.94G>A (p.Glu32Lys) c.193G>A (p.Glu65Lys) c.7093G>A (p.Glu2365Lys) c.7090G>A (p.Glu2364Lys) c.7102G>A (p.Glu2368Lys) c.7081G>A (p.Glu2361Lys) c.6736G>A (p.Glu2246Lys) c.3082G>A (p.Glu1028Lys) c.6976G>A (p.Glu2326Lys) c.6967G>A (p.Glu2323Lys) c.6982G>A (p.Glu2328Lys) c.1279G>A (p.Glu427Lys) | ClinVar dbSNP |
| X | g.31836813C>A | CA347515 | DMD | c.1951G>T (p.Glu651Ter) c.-276G>T (n.-276G>T) n.766G>T n.688G>T n.597G>T c.7105G>T (p.Glu2369Ter) c.3073G>T (p.Glu1025Ter) c.94G>T (p.Glu32Ter) c.193G>T (p.Glu65Ter) c.7093G>T (p.Glu2365Ter) c.7090G>T (p.Glu2364Ter) c.7102G>T (p.Glu2368Ter) c.7081G>T (p.Glu2361Ter) c.6736G>T (p.Glu2246Ter) c.3082G>T (p.Glu1028Ter) c.6976G>T (p.Glu2326Ter) c.6967G>T (p.Glu2323Ter) c.6982G>T (p.Glu2328Ter) c.1279G>T (p.Glu427Ter) | ClinVar dbSNP |