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.

793 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_45i c.(6381_6537)_(6537_6705)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y - - no medication; no ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >17y - - medication creatine; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y - - medication creatine 1 Manuel F. Mas Rodriguez
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del 45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case5 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del 45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case13 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.? p.? Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del ex45 del; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - Ayala-Ramirez, ASHG2017 P1070, PubMed: Buitrago 2023 - - Germline - - - - - DNA MLPA - - - Pat8 Ayala-Ramirez, ASHG2017 P1070, PubMed: Buitrago 2023 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.? p.? Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del ex45 del; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - 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_45i c.(6381_6537)_(6537_6705)del r.(del) p.(fs) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del ex45 del; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1798 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1798 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1801 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1801 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1802 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1802 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1826 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1826 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1833 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1833 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1834 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1834 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2399 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2399 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1653 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1653 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2409 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2409 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2410 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2410 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1536 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1536 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1613 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1613 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1540 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1540 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2313 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2313 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1944 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1944 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1674 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1674 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2315 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2315 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2442 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2442 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2444 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2444 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2525 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2525 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1947 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1947 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1975 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1975 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1567 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1567 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2356 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2356 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2541 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2541 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2624 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2624 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2921 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2921 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 229 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 229 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 230 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 230 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 231 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 231 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2325 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2325 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 233 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 233 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 234 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 234 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 28 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 28 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2759 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2759 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 235 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 235 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 152 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 152 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 153 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 153 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 79 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 79 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 20 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 20 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 80 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 80 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 82 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 82 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 237 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 237 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 238 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 238 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 239 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 239 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 18 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 18 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1387 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1387 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 885 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 885 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 899 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 899 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2929 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2929 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1067 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1067 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 1373 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1373 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2652 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2652 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2676 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2676 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2948 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2948 database - F - Argentina - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2522 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2522 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2553 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2553 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2082 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2082 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2138 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2138 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2155 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2155 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2165 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2165 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2198 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2198 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Tuffery-Giraud 2009, UMD 2212 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2212 database germinal mosacism grandmother M - France - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA, PCR - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >9y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >12y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >20y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(e45-e45del) p.fs Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del del e45; c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA MLPA, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 carrier female - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - Healthy/Control - - carrier mother DMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_45i c.(6381_6537)_(6537_6705)del r.(6439_6614del) p.(fs*) Unknown - pathogenic (recessive) g.(31950254_31986533)_(31986533_32235090)del g.(31932137_31968416)_(31968416_32216973)del c.(6438+1_6439-1)_(6614+1_6615-1)del - DMD_014545 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
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