| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32362826G>A | CA267055 | DMD | c.133C>T (p.Arg45Ter) c.5287C>T (p.Arg1763Ter) c.1255C>T (p.Arg419Ter) c.5275C>T (p.Arg1759Ter) n.336-145763C>T c.5263C>T (p.Arg1755Ter) c.4918C>T (p.Arg1640Ter) c.1264C>T (p.Arg422Ter) c.5158C>T (p.Arg1720Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.32362826G= | CA2422769165 | DMD | c.133C= (p.Arg45=) c.5287C= (p.Arg1763=) c.1255C= (p.Arg419=) c.5275C= (p.Arg1759=) n.336-145763C= c.5263C= (p.Arg1755=) c.4918C= (p.Arg1640=) c.1264C= (p.Arg422=) c.5158C= (p.Arg1720=) | dbSNP |