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.

401 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     
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1827 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1827 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1830 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1830 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1849 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1849 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1550 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1550 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1510 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1510 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1589 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1589 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2021 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2021 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 272 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 272 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 273 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 273 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 274 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 274 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2984 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2984 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2752 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2752 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 91 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 91 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 276 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 276 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 92 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 92 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 93 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 93 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 17 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 17 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 863 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 863 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1351 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1351 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 898 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 898 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2677 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2677 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2885 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2885 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2889 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2889 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2517 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2517 database - M - Tunisia - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2564 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2564 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 1901 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1901 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2103 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2103 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2218 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2218 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2379 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2379 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Tuffery-Giraud 2009, UMD 2378 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2378 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(e46-e47del) p.fs Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del e46-e47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(e46-e47del) p.fs Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del e46-e47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(e46-e47del) p.fs Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del e46-e47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - Healthy/Control - - carrier mother DMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 carrier sister PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA ? - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - >3y - - - 1 Peter Taylor
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del ex46ex47del; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del ex46ex47del; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*?) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Gisela Gaina
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.(6615_6912del) p.(fs*) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat189 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat190 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat191 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat192 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat193 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat194 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat195 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat196 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat197 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28610567-Pat198 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_47i c.(6537_6705)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31950254_31986533)del g.(31875269_31929699)_(31932137_31968416)del del ex46-47; c.(6614+1_6615-1)_(6912+1_6913-1)del - DMD_014647 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
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