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.

141 entries on 2 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     
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48-51 del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Tuffery-Giraud 2009, UMD 432 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 432 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Tuffery-Giraud 2009, UMD 489 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 489 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Tuffery-Giraud 2009, UMD 433 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 433 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Tuffery-Giraud 2009, UMD 2472 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2472 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat117 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(fs*?) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-50 and 48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Uwineza 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD P1 PubMed: Uwineza 2014 - M - Rwanda - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D49 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51; c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014851 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D149 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48ex51, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.2313-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.2313-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.2313-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6763-?_7542+?del  - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6763-?_7542+?del  - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6763-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6763-?_7542+?del  - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6439-?_7542+?del  - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48ex51del, c.6913-?_7542+?del  - DMD_014851 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 family, 2 affected M;F - Italy - - - - - 2 Carmela Scuderi
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD M2570 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0209 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - hCK CASE_0240 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Mukherjee 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD PatH PubMed: Mukherjee 2018 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Mohammed 2018 - - Germline/De novo (untested) - 1/68 cases - - - DNA MLPA - - BMD/DMD Fam? PubMed: Mohammed 2018 analysis 68 unrelated DMD families M - Kuwait - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1275 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1510 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del - - DMD_014851 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Algeria - - - - - 1 Alessandra Ferlini
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del ex48-51 del - DMD_014851 - PubMed: De Palma 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - - BMD/DMD Ind42 PubMed: De Palma 2021 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD, nephew with muscular dystrophy F - Israel Arab;Muslim - - - - 2 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD, no family history F - Israel Bedouin;Muslim - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Singer 2023 - - Germline - 5/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests), family history affected brother with BMD F - Israel - - - - - 2 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Singer 2023 - - Germline - 5/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests), family history son with DMD (4y) F - Israel - - - - - 2 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Singer 2023 - - Germline - 5/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Singer 2023 - - Germline - 5/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Singer 2023 - - Germline - 5/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Basiri 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Basiri 2023 - M - Iran - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48-51 - DMD_014851 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 48/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
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