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.

605 entries on 7 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_52i c.(6381_6537)_(7628_7786)del r.(?) p.(Glu2147Leufs*22) Maternal (inferred) - likely pathogenic g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA blood - BMD/DMD #367 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2635 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2635 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1811 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1811 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1832 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1832 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1868 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1868 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1867 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1867 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1884 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1884 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2008 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2008 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1966 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1966 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1948 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1948 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1578 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1578 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2359 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2359 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2392 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2392 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 252 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 252 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 77 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 77 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1127 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1127 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1498 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1498 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2933 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2933 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 85 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 85 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1155 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1155 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 253 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 253 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 254 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 254 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 255 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 255 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 86 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 86 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 256 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 256 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 257 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 257 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 258 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 258 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 259 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 259 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 87 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 87 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 260 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 260 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 261 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 261 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 88 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 88 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 262 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 262 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 263 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 263 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 264 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 264 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1041 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1041 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 986 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 986 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1060 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1060 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1079 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1079 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1080 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1080 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2890 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2890 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2520 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2520 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1780 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1780 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2506 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2506 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 1718 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1718 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2074 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2074 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2368 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2368 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Tuffery-Giraud 2009, UMD 2200 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2200 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >9y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Wu 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Wu 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y6m - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(e45-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del del e45-e52; c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA, PCRm, Southern - - Healthy/Control - - carrier mother DMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 carrier female PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - F - (Germany) - - - - - 1 Bart Janssen
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(7201_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(7201_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - - - - - 1 Peter Taylor
+/. 44i_52i c.(6381_6537)_(7628_7786)del r.(6439_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31986533_32235090)del g.(31679461_31729663)_(31968416_32216973)del c.(6438+1_6439-1)_(7660+1_7661-1)del - DMD_014552 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - - - - - 1 Peter Taylor
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