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.

511 entries on 6 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     
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1831 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1831 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1860 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1860 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1861 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1861 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 mosaicism, germline PubMed: Tuffery-Giraud 2009, UMD 1961 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1961 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1955 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1955 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1953 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1953 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2428 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2428 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1949 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1949 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2753 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2753 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2698 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2698 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 317 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 317 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 115 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 115 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 1 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 318 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 318 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 319 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 319 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 116 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 116 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2983 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2983 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2881 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2881 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2672 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2672 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2787 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2787 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2944 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2944 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2504 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2504 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Tuffery-Giraud 2009, UMD 2481 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2481 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2187 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2187 database - M - Libya - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(6913_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - Healthy/Control - PubMed: Khordadpoor-Deilamani 2011 carrier female (B/DMD) F - Iran - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(e49-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-e50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >12y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(e49-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-e50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(e49-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-e50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(e49-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-e50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >19y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(e49-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-e50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >2y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del e49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >8y - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 carrier female - - - Germline - - - - - DNA MLPA - - DMD - - - - - - - - - - - 1 Mireille Claustres
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 carrier female PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - F - (Germany) - - - - - 1 Bart Janssen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA ? - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.fs Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - patient 5y M - (Australia) - - - - - 1 Peter Taylor
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*?) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - - De novo - - - - - DNA MLPA - - MD - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - M - Bulgaria - - - - - 1 Bilyana Georgieva
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA, PCRm - - DMD #431 - - - - Argentina - - - - - 1 Florencia Giliberto
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 L. Lukovic
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.?fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del ex49ex50del; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del ex49ex50del; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del ex49ex50del; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Albania - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del ex49ex50del; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Albania - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del ex49ex50del; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.(7099_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat124 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat125 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat126 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat127 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat128 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat129 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28610567-Pat130 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat131 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat131 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_50i c.(7017_7099-11)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31854947_31893386)del g.(31774080_31819962)_(31836830_31875269)del del ex49-50; c.(7098+1_7099-1)_(7309+1_7310-1)del - DMD_014950 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
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