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.

1102 entries on 12 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_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >50y - - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >52y - - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y - - no medication; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y - - no medication; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Paternal (confirmed) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del ex45-47del; c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - - - - Germline - - - - - DNA MLPA, SEQ - - Healthy/Control - - female carrier, father BMD affected F - Brazil - - - - - 1 Maria Rita Passos-Bueno
+/+ 44i_47i c.(6381_6537)_(6809_7017)del r.del p.(fs) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Okubo 2017 - - Germline/De novo (untested) - 68/1497 cases - - - DNA MLPA - - DMD Pat4547 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del ex45-47 del; c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(del) p.(del) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del ex45-47 del; c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1858 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1858 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1875 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1875 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1876 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1876 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1887 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1887 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1891 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1891 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1892 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1892 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1893 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1893 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1894 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1894 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1898 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1898 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1900 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1900 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2617 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2617 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1999 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1999 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2009 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2009 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2309 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2309 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1520 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1520 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1526 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1526 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1527 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1527 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2324 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2324 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2412 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2412 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1535 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1535 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2413 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2413 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2414 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2414 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2431 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2431 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1680 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1680 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1968 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1968 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1946 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1946 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1945 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1945 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1597 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1597 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1616 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1616 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1617 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1617 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2542 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2542 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2007 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2007 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1468 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1468 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 532 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 532 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2644 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2644 database affectec cousin M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2920 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2920 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2691 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2691 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2695 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2695 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2696 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2696 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 533 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 533 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1049 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1049 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 413 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 413 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 534 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 534 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1104 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1104 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1105 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1105 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 796 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 796 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 536 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 536 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 535 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 535 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 537 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 537 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1495 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1495 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 451 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 451 database - M - (France) - 26y - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 538 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 538 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1502 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1502 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 539 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 539 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2122 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2122 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 407 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 407 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1158 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1158 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 540 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 540 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 541 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 541 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1005 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1005 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1004 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1004 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1003 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1003 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1006 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1006 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1007 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1007 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 542 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 542 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 1293 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1293 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2973 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2973 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 452 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 452 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 453 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 453 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 543 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 543 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 544 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 544 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 3027 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 3027 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 545 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 545 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2927 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2927 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 503 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 503 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 491 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 491 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 454 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 454 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 546 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 546 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 547 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 547 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 456 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 456 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 455 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 455 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 504 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 504 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 548 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 548 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 549 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 549 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2683 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2683 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2966 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2966 database only elevated CPK at 3y M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 2967 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2967 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 490 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 490 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6381_6537)_(6809_7017)del r.(6439_6912del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31986533_32235090)del g.(31875269_31929699)_(31968416_32216973)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - PubMed: Tuffery-Giraud 2009, UMD 551 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 551 database - M - (France) - - - - - 1 Johan den Dunnen
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