| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31178784G>A | CA273073 | DMD | c.4954C>T (p.Arg1652Ter) n.2455C>T c.904C>T (p.Arg302Ter) n.906C>T c.2728C>T (p.Arg910Ter) n.739C>T n.1625C>T n.1207C>T n.1626C>T n.3600C>T c.1963C>T (p.Arg655Ter) c.10108C>T (p.Arg3370Ter) n.474C>T c.6076C>T (p.Arg2026Ter) c.*110C>T (n.*110C>T) c.65C>T c.781C>T (p.Arg261Ter) c.603+25177C>T (n.603+25177C>T) c.847C>T (p.Arg283Ter) n.1038C>T c.1921C>T (p.Arg641Ter) c.3196C>T (p.Arg1066Ter) c.10096C>T (p.Arg3366Ter) c.478C>T (p.Arg160Ter) n.324C>T c.10093C>T (p.Arg3365Ter) c.10105C>T (p.Arg3369Ter) c.10084C>T (p.Arg3362Ter) c.9739C>T (p.Arg3247Ter) c.6085C>T (p.Arg2029Ter) c.9979C>T (p.Arg3327Ter) c.9970C>T (p.Arg3324Ter) c.9985C>T (p.Arg3329Ter) c.4282C>T (p.Arg1428Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31178784G= | CA2422337945 | DMD | c.4954C= (p.Arg1652=) n.2455C= c.904C= (p.Arg302=) n.906C= c.2728C= (p.Arg910=) n.739C= n.1625C= n.1207C= n.1626C= n.3600C= c.1963C= (p.Arg655=) c.10108C= (p.Arg3370=) n.474C= c.6076C= (p.Arg2026=) c.*110C= (n.*110C=) c.65C= c.781C= (p.Arg261=) c.603+25177C= (n.603+25177C=) c.847C= (p.Arg283=) n.1038C= c.1921C= (p.Arg641=) c.3196C= (p.Arg1066=) c.10096C= (p.Arg3366=) c.478C= (p.Arg160=) n.324C= c.10093C= (p.Arg3365=) c.10105C= (p.Arg3369=) c.10084C= (p.Arg3362=) c.9739C= (p.Arg3247=) c.6085C= (p.Arg2029=) c.9979C= (p.Arg3327=) c.9970C= (p.Arg3324=) c.9985C= (p.Arg3329=) c.4282C= (p.Arg1428=) | dbSNP |