| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31209627del | CA16616664 | DMD | c.4280del (p.Met1427ArgfsTer10) c.230del (p.Met77ArgfsTer10) n.232del c.2054del (p.Met685ArgfsTer10) n.951del n.533del n.952del n.2926del c.1289del (p.Met430ArgfsTer10) c.9434del (p.Met3145ArgfsTer10) c.5402del (p.Met1801ArgfsTer10) c.107del (p.Met36ArgfsTer10) c.173del (p.Met58ArgfsTer10) n.364del c.1247del (p.Met416ArgfsTer10) c.2522del (p.Met841ArgfsTer10) c.9422del (p.Met3141ArgfsTer10) n.453del c.9419del (p.Met3140ArgfsTer10) c.9431del (p.Met3144ArgfsTer10) c.9410del (p.Met3137ArgfsTer10) c.9065del (p.Met3022ArgfsTer10) c.5411del (p.Met1804ArgfsTer10) c.9305del (p.Met3102ArgfsTer10) c.9296del (p.Met3099ArgfsTer10) c.9311del (p.Met3104ArgfsTer10) c.3608del (p.Met1203ArgfsTer10) | ClinVar dbSNP |
| X | g.31209627A= | CA3065189097 | DMD | c.4280T= (p.Met1427=) c.230T= (p.Met77=) n.232T= c.2054T= (p.Met685=) n.951T= n.533T= n.952T= n.2926T= c.1289T= (p.Met430=) c.9434T= (p.Met3145=) c.5402T= (p.Met1801=) c.107T= (p.Met36=) c.173T= (p.Met58=) n.364T= c.1247T= (p.Met416=) c.2522T= (p.Met841=) c.9422T= (p.Met3141=) n.453T= c.9419T= (p.Met3140=) c.9431T= (p.Met3144=) c.9410T= (p.Met3137=) c.9065T= (p.Met3022=) c.5411T= (p.Met1804=) c.9305T= (p.Met3102=) c.9296T= (p.Met3099=) c.9311T= (p.Met3104=) c.3608T= (p.Met1203=) | dbSNP |