| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31206663G>A | CA273076 | DMD | c.4414C>T (p.Arg1472Ter) c.364C>T (p.Arg122Ter) n.366C>T c.2188C>T (p.Arg730Ter) n.1085C>T n.667C>T n.1086C>T n.3060C>T c.1423C>T (p.Arg475Ter) c.9568C>T (p.Arg3190Ter) c.5536C>T (p.Arg1846Ter) c.241C>T (p.Arg81Ter) c.307C>T (p.Arg103Ter) n.498C>T c.1381C>T (p.Arg461Ter) c.2656C>T (p.Arg886Ter) c.9556C>T (p.Arg3186Ter) c.9553C>T (p.Arg3185Ter) c.9565C>T (p.Arg3189Ter) c.9544C>T (p.Arg3182Ter) c.9199C>T (p.Arg3067Ter) c.5545C>T (p.Arg1849Ter) c.9439C>T (p.Arg3147Ter) c.9430C>T (p.Arg3144Ter) c.9445C>T (p.Arg3149Ter) c.3742C>T (p.Arg1248Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31206663G= | CA2422348467 | DMD | c.4414C= (p.Arg1472=) c.364C= (p.Arg122=) n.366C= c.2188C= (p.Arg730=) n.1085C= n.667C= n.1086C= n.3060C= c.1423C= (p.Arg475=) c.9568C= (p.Arg3190=) c.5536C= (p.Arg1846=) c.241C= (p.Arg81=) c.307C= (p.Arg103=) n.498C= c.1381C= (p.Arg461=) c.2656C= (p.Arg886=) c.9556C= (p.Arg3186=) c.9553C= (p.Arg3185=) c.9565C= (p.Arg3189=) c.9544C= (p.Arg3182=) c.9199C= (p.Arg3067=) c.5545C= (p.Arg1849=) c.9439C= (p.Arg3147=) c.9430C= (p.Arg3144=) c.9445C= (p.Arg3149=) c.3742C= (p.Arg1248=) | dbSNP |