| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32287680G>A | CA10654749 | DMD | c.985C>T (p.Gln329Ter) c.6139C>T (p.Gln2047Ter) c.2107C>T (p.Gln703Ter) c.6127C>T (p.Gln2043Ter) n.336-70617C>T c.6115C>T (p.Gln2039Ter) c.5770C>T (p.Gln1924Ter) c.2116C>T (p.Gln706Ter) c.6010C>T (p.Gln2004Ter) c.6001C>T (p.Gln2001Ter) c.6016C>T (p.Gln2006Ter) c.313C>T (p.Gln105Ter) | ClinVar dbSNP |
| X | g.32287680G= | CA2422736462 | DMD | c.985C= (p.Gln329=) c.6139C= (p.Gln2047=) c.2107C= (p.Gln703=) c.6127C= (p.Gln2043=) n.336-70617C= c.6115C= (p.Gln2039=) c.5770C= (p.Gln1924=) c.2116C= (p.Gln706=) c.6010C= (p.Gln2004=) c.6001C= (p.Gln2001=) c.6016C= (p.Gln2006=) c.313C= (p.Gln105=) | dbSNP |