| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32595765G>A | CA10605246 | DMD | c.1225C>T (p.Gln409Ter) n.1801C>T c.*93C>T (n.*93C>T) c.1465C>T (p.Gln489Ter) c.1570C>T (p.Gln524Ter) c.1594C>T (p.Gln532Ter) c.1582C>T (p.Gln528Ter) c.94-230566C>T (n.94-230566C>T) c.247-21919C>T (n.247-21919C>T) c.94-231055C>T (n.94-231055C>T) n.87-21919C>T n.336-378702C>T | ClinVar dbSNP |
| X | g.32595765G>C | CA10379807 | DMD | c.1225C>G (p.Gln409Glu) n.1801C>G c.*93C>G (n.*93C>G) c.1465C>G (p.Gln489Glu) c.1570C>G (p.Gln524Glu) c.1594C>G (p.Gln532Glu) c.1582C>G (p.Gln528Glu) c.94-230566C>G (n.94-230566C>G) c.247-21919C>G (n.247-21919C>G) c.94-231055C>G (n.94-231055C>G) n.87-21919C>G n.336-378702C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |