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.

371 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >33y 0 - medication; no ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >12y 0 - no medication 1 Manuel F. Mas Rodriguez
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(del) p.(del?) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >64y 0 - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.? p.? Parent #1 g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del ex45-48 del; c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - 0 - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD - - Colombia - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.? p.? Parent #1 g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del ex45-48 del; c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - 0 - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD - - Colombia - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(del) p.(del) Parent #1 g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del ex45-48 del; c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - - - - Germline - - - 0 - DNA MLPA - - - - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Unknown g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Prior 2005 - - Germline - - - 0 - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - 0 - - 3 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del?) Unknown g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Prior 2005 - - Germline - - - 0 - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - 0 - - 4 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Unknown g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Siciliano - - Germline - - - 0 - DNA PCRm - - BMD, CMD-3B - PubMed: Siciliano - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Unknown g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery - - Germline - - - 0 - DNA PCRm, Southern - - BMD - PubMed: Tuffery - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2034 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2034 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2035 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2035 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2052 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2052 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1871 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1871 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1870 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1870 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1896 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1896 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1899 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1899 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1521 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1521 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1523 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1523 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1525 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1525 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1528 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1528 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1529 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1529 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1531 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1531 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1673 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1673 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1538 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1538 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2328 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2328 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2422 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2422 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1545 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1545 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2429 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2429 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1936 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1936 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1937 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1937 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1938 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1938 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1965 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1965 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1970 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1970 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1972 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1972 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2385 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2385 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2609 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2609 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 462 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 462 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1046 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1046 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2962 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2962 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 580 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 580 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1124 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1124 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1125 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1125 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1126 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1126 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1500 database - - De novo - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1500 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 581 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 581 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 817 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 817 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 582 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 582 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 583 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 583 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 463 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 463 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2872 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2872 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1365 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1365 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 464 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 464 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1366 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1366 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1367 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1367 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 584 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 584 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 585 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 585 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 586 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 586 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Parent #1 g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2656 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2656 database symptomatic BMD carrier F - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 588 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 588 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 587 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 587 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 465 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 465 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 497 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 497 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Drouet, UMD 2647 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Drouet, UMD 2647 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Drouet, UMD 434 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Drouet, UMD 434 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 466 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 466 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 467 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 467 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 589 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 589 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2657 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2657 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2658 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2658 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 468 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 468 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 495 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 495 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 590 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 590 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 591 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 591 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 420 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 420 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 593 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 593 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 469 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 469 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 594 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 594 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 595 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 595 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 426 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 426 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 424 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 424 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 596 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 596 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 482 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 482 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 597 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 597 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 598 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 598 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 470 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 470 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 599 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 599 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 600 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 600 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1481 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1481 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 471 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 471 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 886 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 886 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 867 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 867 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1375 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1375 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 1226 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1226 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2707 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2707 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2756 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2756 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2785 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2785 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 2899 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2899 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 - PubMed: Tuffery-Giraud 2009, UMD 3026 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 3026 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 44i_48i c.(6382_6538)_(7018_7099-10)del pathogenic (recessive) r.(6439_7098del) p.(del) Maternal (inferred) g.(31854946_31893385)_(31986532_32235089)del g.(31836829_31875268)_(31968415_32216972)del c.(6438+1_6439-1)_(7098+1_7099-1)del - DMD_014548 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1984 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1984 database - M - France - - 0 - - 1 Johan den Dunnen
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