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.

429 entries on 5 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     
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y - - no medication; BiPaP ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1799 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1799 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1840 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1840 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1850 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1850 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1855 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1855 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1865 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1865 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 2618 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2618 database - F - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1995 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1995 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 2423 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2423 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1663 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1663 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 112 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 112 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 313 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 313 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 627 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 627 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 9 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 9 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 10 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 10 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2919 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2919 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 314 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 314 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 113 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 113 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 114 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 114 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1266 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1266 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1066 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1066 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 737 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 737 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1792 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1792 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 1759 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1759 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2508 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2508 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1763 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1763 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1906 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1906 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Tuffery-Giraud 2009, UMD 2483 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2483 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2184 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2184 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2208 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2208 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(e48-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del e48-e52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(e48-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del e48-e52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(e48-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del e48-e52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(e48-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del e48-e52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 de novo, in mother - - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 carrier sister PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del ex48ex52del; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*?) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Gisela Gaina
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - De novo - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.(6913_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - - - - De novo - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Suh 2017 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat? PubMed: Suh 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat117 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat118 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat119 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat120 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat121 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat122 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat123 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat124 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 47i_52i c.(6809_7017)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31893386_31947816)del g.(31679461_31729663)_(31875269_31929699)del del ex48-52; c.(6912+1_6913-1)_(7660+1_7661-1)del - DMD_014852 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
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