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.

716 entries on 8 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_50i c.(6381_6537)_(7309+13_7422)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - no medication; BiPaP ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >16y - - medication steroids; mechanical ventilator; surgery contractures 1 Manuel F. Mas Rodriguez
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >26y - - no medication; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >4y - - medication steroids; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del 45-50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case7 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.? p.? Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del ex45-50 del; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1800 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1800 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2033 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2033 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1813 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1813 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1814 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1814 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1824 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1824 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1825 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1825 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2049 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2049 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3056 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3056 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1933 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1933 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2425 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2425 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1969 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1969 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2524 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2524 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2530 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2530 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2531 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2531 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1645 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1645 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2019 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2019 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 242 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 242 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1496 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1496 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 243 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 243 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2711 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2711 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 83 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 83 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1714 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1714 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 245 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 245 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 246 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 246 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 247 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 247 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 248 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 248 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 249 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 249 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 84 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 84 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 250 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 250 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1037 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1037 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1040 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1040 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1045 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1045 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1061 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1061 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1289 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1289 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1579 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1579 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2891 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2891 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2901 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2901 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2988 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2988 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1699 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1699 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2523 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2523 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2344 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2344 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2343 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2343 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1681 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1681 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2342 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2342 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1766 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1766 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 2337 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2337 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Tuffery-Giraud 2009, UMD 1772 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1772 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2179 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2179 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Wu 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Wu 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >15y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >13y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(e45-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-e50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >2y6m - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del del e45-50; c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Rani 2013, Journal: Rani 2013 - - Unknown - 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >7y - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - - - - - 2 Peter Taylor
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - - - - - 1 Peter Taylor
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - (Australia) - >32y - - - 1 Peter Taylor
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 carrier F - Bulgaria - - - - - 1 Bilyana Georgieva
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 44i_50i c.(6381_6537)_(7309+13_7422)del r.(6439_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31986533_32235090)del g.(31774080_31819962)_(31968416_32216973)del c.(6438+1_6439-1)_(7309+1_7310-1)del - DMD_014550 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
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