| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32644159del | CA2573158844 | DMD | c.937del (p.Val313Ter) n.1513del c.1306del (p.Val436Ter) c.1177del (p.Val393Ter) c.1282del (p.Val428Ter) c.1294del (p.Val432Ter) c.94-278958del (n.94-278958del) c.247-70311del (n.247-70311del) c.94-279447del (n.94-279447del) n.87-70311del n.335+375982del | ClinVar dbSNP |
| X | g.32644159dup | CA266882 | DMD | c.937dup (p.Val313GlyfsTer3) n.1513dup c.1306dup (p.Val436GlyfsTer3) c.1177dup (p.Val393GlyfsTer3) c.1282dup (p.Val428GlyfsTer3) c.1294dup (p.Val432GlyfsTer3) c.94-278958dup (n.94-278958dup) c.247-70311dup (n.247-70311dup) c.94-279447dup (n.94-279447dup) n.87-70311dup n.335+375982dup | ClinVar dbSNP |