| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31180423G>C | CA412653107 | DMD | c.4879C>G (p.Arg1627Gly) n.2380C>G c.829C>G (p.Arg277Gly) n.831C>G c.2653C>G (p.Arg885Gly) n.664C>G n.1550C>G n.1132C>G n.1551C>G n.3525C>G c.1888C>G (p.Arg630Gly) c.10033C>G (p.Arg3345Gly) n.399C>G c.6001C>G (p.Arg2001Gly) c.*35C>G (n.*35C>G) c.706C>G (p.Arg236Gly) c.603+23538C>G (n.603+23538C>G) c.772C>G (p.Arg258Gly) n.963C>G c.1846C>G (p.Arg616Gly) c.3121C>G (p.Arg1041Gly) c.10021C>G (p.Arg3341Gly) c.403C>G (p.Arg135Gly) n.249C>G c.10018C>G (p.Arg3340Gly) c.10030C>G (p.Arg3344Gly) c.10009C>G (p.Arg3337Gly) c.9664C>G (p.Arg3222Gly) c.6010C>G (p.Arg2004Gly) c.9904C>G (p.Arg3302Gly) c.9895C>G (p.Arg3299Gly) c.9910C>G (p.Arg3304Gly) c.4207C>G (p.Arg1403Gly) | ClinVar dbSNP |
| X | g.31180423G>A | CA266851 | DMD | c.4879C>T (p.Arg1627Ter) n.2380C>T c.829C>T (p.Arg277Ter) n.831C>T c.2653C>T (p.Arg885Ter) n.664C>T n.1550C>T n.1132C>T n.1551C>T n.3525C>T c.1888C>T (p.Arg630Ter) c.10033C>T (p.Arg3345Ter) n.399C>T c.6001C>T (p.Arg2001Ter) c.*35C>T (n.*35C>T) c.706C>T (p.Arg236Ter) c.603+23538C>T (n.603+23538C>T) c.772C>T (p.Arg258Ter) n.963C>T c.1846C>T (p.Arg616Ter) c.3121C>T (p.Arg1041Ter) c.10021C>T (p.Arg3341Ter) c.403C>T (p.Arg135Ter) n.249C>T c.10018C>T (p.Arg3340Ter) c.10030C>T (p.Arg3344Ter) c.10009C>T (p.Arg3337Ter) c.9664C>T (p.Arg3222Ter) c.6010C>T (p.Arg2004Ter) c.9904C>T (p.Arg3302Ter) c.9895C>T (p.Arg3299Ter) c.9910C>T (p.Arg3304Ter) c.4207C>T (p.Arg1403Ter) | ClinVar dbSNP |
| X | g.31180423G= | CA2422338544 | DMD | c.4879C= (p.Arg1627=) n.2380C= c.829C= (p.Arg277=) n.831C= c.2653C= (p.Arg885=) n.664C= n.1550C= n.1132C= n.1551C= n.3525C= c.1888C= (p.Arg630=) c.10033C= (p.Arg3345=) n.399C= c.6001C= (p.Arg2001=) c.*35C= (n.*35C=) c.706C= (p.Arg236=) c.603+23538C= (n.603+23538C=) c.772C= (p.Arg258=) n.963C= c.1846C= (p.Arg616=) c.3121C= (p.Arg1041=) c.10021C= (p.Arg3341=) c.403C= (p.Arg135=) n.249C= c.10018C= (p.Arg3340=) c.10030C= (p.Arg3344=) c.10009C= (p.Arg3337=) c.9664C= (p.Arg3222=) c.6010C= (p.Arg2004=) c.9904C= (p.Arg3302=) c.9895C= (p.Arg3299=) c.9910C= (p.Arg3304=) c.4207C= (p.Arg1403=) | dbSNP |
| X | g.31180423G>T | CA515858043 | DMD | c.4879C>A (p.Arg1627=) n.2380C>A c.829C>A (p.Arg277=) n.831C>A c.2653C>A (p.Arg885=) n.664C>A n.1550C>A n.1132C>A n.1551C>A n.3525C>A c.1888C>A (p.Arg630=) c.10033C>A (p.Arg3345=) n.399C>A c.6001C>A (p.Arg2001=) c.*35C>A (n.*35C>A) c.706C>A (p.Arg236=) c.603+23538C>A (n.603+23538C>A) c.772C>A (p.Arg258=) n.963C>A c.1846C>A (p.Arg616=) c.3121C>A (p.Arg1041=) c.10021C>A (p.Arg3341=) c.403C>A (p.Arg135=) n.249C>A c.10018C>A (p.Arg3340=) c.10030C>A (p.Arg3344=) c.10009C>A (p.Arg3337=) c.9664C>A (p.Arg3222=) c.6010C>A (p.Arg2004=) c.9904C>A (p.Arg3302=) c.9895C>A (p.Arg3299=) c.9910C>A (p.Arg3304=) c.4207C>A (p.Arg1403=) | ClinVar dbSNP gnomAD v4 |