Full data view for gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

264 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2418 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2418 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1996 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1996 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1471 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1471 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 472 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 472 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 473 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 473 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 601 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 601 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 602 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 602 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 603 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 603 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1143 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1143 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1470 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1470 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1164 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1164 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1165 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1165 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 605 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 605 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2969 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2969 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2959 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2959 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 494 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 494 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1371 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1371 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 606 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 606 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1350 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1350 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 607 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 607 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 608 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 608 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 474 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 474 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2648 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2648 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 241 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 241 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 405 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 405 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1385 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1385 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2937 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2937 database - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2992 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2992 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2993 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2993 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2987 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2987 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1990 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1990 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1991 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1991 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1721 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1721 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1789 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1789 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1790 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1790 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1747 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1747 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 1722 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1722 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2079 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2079 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2080 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2080 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tuffery-Giraud 2009, UMD 2219 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2219 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(e45-e49del) p.del Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del e45-e49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >19y - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(e45-e49del) p.del Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del e45-e49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >29y - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 carrier daughter PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Taylor 2007 - F - Australia - - - - - 1 Michael Buckley
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA ? - - BMD - - - M - Romania - >33y - - - 1 Elena Neagu
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Australia - - - - - 1 Peter Taylor
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA - - DMD - - male 6y; motor issues & prominent calves M - (Australia) - >6y - - - 1 Peter Taylor
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(6439_7200del) p.(del) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat97 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat110 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del 45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat17 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 9 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 10 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D35 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D50 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D51 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D125 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D151 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)del - DMD_014549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D170 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45ex49, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Milena Cau
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45-49del - DMD_014549 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P2 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45-49 del - DMD_014549 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat46 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy Campania - - - - 1 Vincenzo Nigro
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del ex45ex49del, c.6439-?_7200+?del - DMD_014549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6171 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD11201 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)del g.(31819962_31836830)_(31968416_32216973)del del ex45-49 - DMD_014549 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
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