| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31182784G>A | CA328405792 | DMD | c.4774C>T (p.Gln1592Ter) n.19C>T c.724C>T (p.Gln242Ter) n.726C>T c.2548C>T (p.Gln850Ter) n.606-2303C>T n.1445C>T n.1027C>T n.1446C>T n.3420C>T c.1783C>T (p.Gln595Ter) c.9928C>T (p.Gln3310Ter) n.294C>T c.5896C>T (p.Gln1966Ter) c.604-2303C>T (n.604-2303C>T) c.601C>T (p.Gln201Ter) c.603+21177C>T (n.603+21177C>T) c.667C>T (p.Gln223Ter) c.2428-2303C>T (n.2428-2303C>T) n.858C>T c.1741C>T (p.Gln581Ter) c.3016C>T (p.Gln1006Ter) c.9916C>T (p.Gln3306Ter) c.298C>T (p.Gln100Ter) n.144C>T c.9913C>T (p.Gln3305Ter) c.9925C>T (p.Gln3309Ter) c.9904C>T (p.Gln3302Ter) c.9559C>T (p.Gln3187Ter) c.5905C>T (p.Gln1969Ter) c.9799C>T (p.Gln3267Ter) c.9790C>T (p.Gln3264Ter) c.9805C>T (p.Gln3269Ter) c.4102C>T (p.Gln1368Ter) | ClinVar dbSNP |
| X | g.31182784G= | CA2422339306 | DMD | c.4774C= (p.Gln1592=) n.19C= c.724C= (p.Gln242=) n.726C= c.2548C= (p.Gln850=) n.606-2303C= n.1445C= n.1027C= n.1446C= n.3420C= c.1783C= (p.Gln595=) c.9928C= (p.Gln3310=) n.294C= c.5896C= (p.Gln1966=) c.604-2303C= (n.604-2303C=) c.601C= (p.Gln201=) c.603+21177C= (n.603+21177C=) c.667C= (p.Gln223=) c.2428-2303C= (n.2428-2303C=) n.858C= c.1741C= (p.Gln581=) c.3016C= (p.Gln1006=) c.9916C= (p.Gln3306=) c.298C= (p.Gln100=) n.144C= c.9913C= (p.Gln3305=) c.9925C= (p.Gln3309=) c.9904C= (p.Gln3302=) c.9559C= (p.Gln3187=) c.5905C= (p.Gln1969=) c.9799C= (p.Gln3267=) c.9790C= (p.Gln3264=) c.9805C= (p.Gln3269=) c.4102C= (p.Gln1368=) | dbSNP |