| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31182850C>A | CA267202 | DMD | c.4708G>T (p.Glu1570Ter) c.658G>T (p.Glu220Ter) n.660G>T c.2482G>T (p.Glu828Ter) n.606-2369G>T n.1379G>T n.961G>T n.1380G>T n.3354G>T c.1717G>T (p.Glu573Ter) c.9862G>T (p.Glu3288Ter) n.228G>T c.5830G>T (p.Glu1944Ter) c.604-2369G>T (n.604-2369G>T) c.535G>T (p.Glu179Ter) c.603+21111G>T (n.603+21111G>T) c.601G>T (p.Glu201Ter) c.2428-2369G>T (n.2428-2369G>T) n.792G>T c.1675G>T (p.Glu559Ter) c.2950G>T (p.Glu984Ter) c.9850G>T (p.Glu3284Ter) c.232G>T (p.Glu78Ter) n.78G>T c.9847G>T (p.Glu3283Ter) c.9859G>T (p.Glu3287Ter) c.9838G>T (p.Glu3280Ter) c.9493G>T (p.Glu3165Ter) c.5839G>T (p.Glu1947Ter) c.9733G>T (p.Glu3245Ter) c.9724G>T (p.Glu3242Ter) c.9739G>T (p.Glu3247Ter) c.4036G>T (p.Glu1346Ter) | ClinVar dbSNP |
| X | g.31182850C= | CA2422339329 | DMD | c.4708G= (p.Glu1570=) c.658G= (p.Glu220=) n.660G= c.2482G= (p.Glu828=) n.606-2369G= n.1379G= n.961G= n.1380G= n.3354G= c.1717G= (p.Glu573=) c.9862G= (p.Glu3288=) n.228G= c.5830G= (p.Glu1944=) c.604-2369G= (n.604-2369G=) c.535G= (p.Glu179=) c.603+21111G= (n.603+21111G=) c.601G= (p.Glu201=) c.2428-2369G= (n.2428-2369G=) n.792G= c.1675G= (p.Glu559=) c.2950G= (p.Glu984=) c.9850G= (p.Glu3284=) c.232G= (p.Glu78=) n.78G= c.9847G= (p.Glu3283=) c.9859G= (p.Glu3287=) c.9838G= (p.Glu3280=) c.9493G= (p.Glu3165=) c.5839G= (p.Glu1947=) c.9733G= (p.Glu3245=) c.9724G= (p.Glu3242=) c.9739G= (p.Glu3247=) c.4036G= (p.Glu1346=) | dbSNP |