| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32545250G>A | CA16616517 | DMD | n.2284C>T c.2053C>T (p.Gln685Ter) c.2077C>T (p.Gln693Ter) c.2065C>T (p.Gln689Ter) c.94-180051C>T (n.94-180051C>T) c.94-180540C>T (n.94-180540C>T) n.336-328187C>T c.1708C>T (p.Gln570Ter) c.1948C>T (p.Gln650Ter) | ClinVar dbSNP |
| X | g.32545250G= | CA2422854638 | DMD | n.2284C= c.2053C= (p.Gln685=) c.2077C= (p.Gln693=) c.2065C= (p.Gln689=) c.94-180051C= (n.94-180051C=) c.94-180540C= (n.94-180540C=) n.336-328187C= c.1708C= (p.Gln570=) c.1948C= (p.Gln650=) | dbSNP |