| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31729634G>A | CA267135 | DMD | c.2503C>T (p.Arg835Ter) c.277C>T (p.Arg93Ter) n.1318C>T n.1125+44326C>T n.1149C>T c.7657C>T (p.Arg2553Ter) c.3625C>T (p.Arg1209Ter) c.646C>T (p.Arg216Ter) c.745C>T (p.Arg249Ter) c.7645C>T (p.Arg2549Ter) c.7642C>T (p.Arg2548Ter) c.7654C>T (p.Arg2552Ter) c.7633C>T (p.Arg2545Ter) c.7288C>T (p.Arg2430Ter) c.3634C>T (p.Arg1212Ter) c.7528C>T (p.Arg2510Ter) c.7519C>T (p.Arg2507Ter) c.7534C>T (p.Arg2512Ter) c.1831C>T (p.Arg611Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31729634G= | CA2422533109 | DMD | c.2503C= (p.Arg835=) c.277C= (p.Arg93=) n.1318C= n.1125+44326C= n.1149C= c.7657C= (p.Arg2553=) c.3625C= (p.Arg1209=) c.646C= (p.Arg216=) c.745C= (p.Arg249=) c.7645C= (p.Arg2549=) c.7642C= (p.Arg2548=) c.7654C= (p.Arg2552=) c.7633C= (p.Arg2545=) c.7288C= (p.Arg2430=) c.3634C= (p.Arg1212=) c.7528C= (p.Arg2510=) c.7519C= (p.Arg2507=) c.7534C= (p.Arg2512=) c.1831C= (p.Arg611=) | dbSNP |
| X | g.31729634G>T | CA515859002 | DMD | c.2503C>A (p.Arg835=) c.277C>A (p.Arg93=) n.1318C>A n.1125+44326C>A n.1149C>A c.7657C>A (p.Arg2553=) c.3625C>A (p.Arg1209=) c.646C>A (p.Arg216=) c.745C>A (p.Arg249=) c.7645C>A (p.Arg2549=) c.7642C>A (p.Arg2548=) c.7654C>A (p.Arg2552=) c.7633C>A (p.Arg2545=) c.7288C>A (p.Arg2430=) c.3634C>A (p.Arg1212=) c.7528C>A (p.Arg2510=) c.7519C>A (p.Arg2507=) c.7534C>A (p.Arg2512=) c.1831C>A (p.Arg611=) | ClinVar dbSNP |