| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32342264G>A | CA16608442 | DMD | c.604C>T (p.Gln202Ter) c.5758C>T (p.Gln1920Ter) c.1726C>T (p.Gln576Ter) c.5746C>T (p.Gln1916Ter) n.336-125201C>T c.5734C>T (p.Gln1912Ter) c.5389C>T (p.Gln1797Ter) c.1735C>T (p.Gln579Ter) c.5629C>T (p.Gln1877Ter) c.5620C>T (p.Gln1874Ter) c.5635C>T (p.Gln1879Ter) c.-69C>T (n.-69C>T) | ClinVar dbSNP |
| X | g.32342264G= | CA2422760412 | DMD | c.604C= (p.Gln202=) c.5758C= (p.Gln1920=) c.1726C= (p.Gln576=) c.5746C= (p.Gln1916=) n.336-125201C= c.5734C= (p.Gln1912=) c.5389C= (p.Gln1797=) c.1735C= (p.Gln579=) c.5629C= (p.Gln1877=) c.5620C= (p.Gln1874=) c.5635C= (p.Gln1879=) c.-69C= (n.-69C=) | dbSNP |