| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32362879C>T | CA285580 | DMD | c.80G>A (p.Arg27His) c.5234G>A (p.Arg1745His) c.1202G>A (p.Arg401His) c.5222G>A (p.Arg1741His) n.336-145816G>A c.5210G>A (p.Arg1737His) c.4865G>A (p.Arg1622His) c.1211G>A (p.Arg404His) c.5105G>A (p.Arg1702His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32362879C= | CA2422769188 | DMD | c.80G= (p.Arg27=) c.5234G= (p.Arg1745=) c.1202G= (p.Arg401=) c.5222G= (p.Arg1741=) n.336-145816G= c.5210G= (p.Arg1737=) c.4865G= (p.Arg1622=) c.1211G= (p.Arg404=) c.5105G= (p.Arg1702=) | dbSNP |