| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31178751G>A | CA273070 | DMD | c.4987C>T (p.Arg1663Ter) n.2488C>T c.937C>T (p.Arg313Ter) n.939C>T c.2761C>T (p.Arg921Ter) n.772C>T n.1658C>T n.1240C>T n.1659C>T n.3633C>T c.1996C>T (p.Arg666Ter) c.10141C>T (p.Arg3381Ter) n.507C>T c.6109C>T (p.Arg2037Ter) c.*143C>T (n.*143C>T) c.98C>T c.814C>T (p.Arg272Ter) c.603+25210C>T (n.603+25210C>T) c.880C>T (p.Arg294Ter) n.1071C>T c.1954C>T (p.Arg652Ter) c.3229C>T (p.Arg1077Ter) c.10129C>T (p.Arg3377Ter) c.511C>T (p.Arg171Ter) n.357C>T c.10126C>T (p.Arg3376Ter) c.10138C>T (p.Arg3380Ter) c.10117C>T (p.Arg3373Ter) c.9772C>T (p.Arg3258Ter) c.6118C>T (p.Arg2040Ter) c.10012C>T (p.Arg3338Ter) c.10003C>T (p.Arg3335Ter) c.10018C>T (p.Arg3340Ter) c.4315C>T (p.Arg1439Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31178751G>T | CA515857784 | DMD | c.4987C>A (p.Arg1663=) n.2488C>A c.937C>A (p.Arg313=) n.939C>A c.2761C>A (p.Arg921=) n.772C>A n.1658C>A n.1240C>A n.1659C>A n.3633C>A c.1996C>A (p.Arg666=) c.10141C>A (p.Arg3381=) n.507C>A c.6109C>A (p.Arg2037=) c.*143C>A (n.*143C>A) c.98C>A c.814C>A (p.Arg272=) c.603+25210C>A (n.603+25210C>A) c.880C>A (p.Arg294=) n.1071C>A c.1954C>A (p.Arg652=) c.3229C>A (p.Arg1077=) c.10129C>A (p.Arg3377=) c.511C>A (p.Arg171=) n.357C>A c.10126C>A (p.Arg3376=) c.10138C>A (p.Arg3380=) c.10117C>A (p.Arg3373=) c.9772C>A (p.Arg3258=) c.6118C>A (p.Arg2040=) c.10012C>A (p.Arg3338=) c.10003C>A (p.Arg3335=) c.10018C>A (p.Arg3340=) c.4315C>A (p.Arg1439=) | dbSNP gnomAD v3 gnomAD v4 |