Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.31627681G>A | CA16616487 | DMD | c.3055C>T (p.Gln1019Ter) c.829C>T (p.Gln277Ter) n.1674C>T n.1870C>T n.1701C>T c.8209C>T (p.Gln2737Ter) c.4177C>T (p.Gln1393Ter) c.1297C>T (p.Gln433Ter) c.8197C>T (p.Gln2733Ter) c.8194C>T (p.Gln2732Ter) c.8206C>T (p.Gln2736Ter) c.8185C>T (p.Gln2729Ter) c.7840C>T (p.Gln2614Ter) c.4186C>T (p.Gln1396Ter) c.8080C>T (p.Gln2694Ter) c.8071C>T (p.Gln2691Ter) c.8086C>T (p.Gln2696Ter) c.2383C>T (p.Gln795Ter) | ClinVar dbSNP |
X | g.31627681G= | CA2422497758 | DMD | c.3055C= (p.Gln1019=) c.829C= (p.Gln277=) n.1674C= n.1870C= n.1701C= c.8209C= (p.Gln2737=) c.4177C= (p.Gln1393=) c.1297C= (p.Gln433=) c.8197C= (p.Gln2733=) c.8194C= (p.Gln2732=) c.8206C= (p.Gln2736=) c.8185C= (p.Gln2729=) c.7840C= (p.Gln2614=) c.4186C= (p.Gln1396=) c.8080C= (p.Gln2694=) c.8071C= (p.Gln2691=) c.8086C= (p.Gln2696=) c.2383C= (p.Gln795=) | dbSNP |