| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32342150C>A | CA16608896 | DMD | c.718G>T (p.Glu240Ter) c.5872G>T (p.Glu1958Ter) c.1840G>T (p.Glu614Ter) c.5860G>T (p.Glu1954Ter) n.336-125087G>T c.5848G>T (p.Glu1950Ter) c.5503G>T (p.Glu1835Ter) c.1849G>T (p.Glu617Ter) c.5743G>T (p.Glu1915Ter) c.5734G>T (p.Glu1912Ter) c.5749G>T (p.Glu1917Ter) c.46G>T (p.Glu16Ter) | ClinVar dbSNP |
| X | g.32342150C>T | CA412664854 | DMD | c.718G>A (p.Glu240Lys) c.5872G>A (p.Glu1958Lys) c.1840G>A (p.Glu614Lys) c.5860G>A (p.Glu1954Lys) n.336-125087G>A c.5848G>A (p.Glu1950Lys) c.5503G>A (p.Glu1835Lys) c.1849G>A (p.Glu617Lys) c.5743G>A (p.Glu1915Lys) c.5734G>A (p.Glu1912Lys) c.5749G>A (p.Glu1917Lys) c.46G>A (p.Glu16Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |