| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32468509G>A | CA266988 | DMD | n.3358C>T c.3151C>T (p.Arg1051Ter) c.3139C>T (p.Arg1047Ter) c.94-103310C>T (n.94-103310C>T) c.94-103799C>T (n.94-103799C>T) n.336-251446C>T c.3127C>T (p.Arg1043Ter) c.2782C>T (p.Arg928Ter) c.3022C>T (p.Arg1008Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.32468509G= | CA2422817720 | DMD | n.3358C= c.3151C= (p.Arg1051=) c.3139C= (p.Arg1047=) c.94-103310C= (n.94-103310C=) c.94-103799C= (n.94-103799C=) n.336-251446C= c.3127C= (p.Arg1043=) c.2782C= (p.Arg928=) c.3022C= (p.Arg1008=) | dbSNP |