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.

221 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y - - medication steroids; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y - - medication steroids; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(del) p.(fs) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45-54 del; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1869 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1869 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1512 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1512 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1513 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1513 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1574 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1574 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1134 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1134 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 265 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 265 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 266 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 266 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 267 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 267 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 268 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 268 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 2673 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2673 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 2744 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2744 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 1697 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1697 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 2366 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2366 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tuffery-Giraud 2009, UMD 2140 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2140 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2196 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2196 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2235 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2235 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(e45-e54del) p.del? Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del e45-e54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(e45-e54del) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del e45-e54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(e45-e54del) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del e45-e54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del e45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Rani 2013, Journal: Rani 2013 - - Unknown - 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >9y - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(7201_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - DMD - - - - - Romania - - - - - 1 Elena Neagu
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - (Australia) - >7y - - - 1 Peter Taylor
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*?) Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Todorova 2008 - - De novo - - - - - DNA MLPA - - DMD - PubMed: Todorova 2008 - M - Bulgaria - - - - - 1 Bilyana Georgieva
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Albania - - - - - 1 Alessandra Ferlini
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.(6439_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - De novo - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat36 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat37 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat38 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat39 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat40 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat41 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat42 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat43 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? - - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 55 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D214 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D378 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D406 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D461 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D500 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D524 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D570 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D592 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D655 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)del - DMD_014554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D683 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45-54del - DMD_014554 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P1 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45-54del - DMD_014554 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P41 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45-54 del - DMD_014554 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat24 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del, c.6439-?_8027+?del - DMD_014554 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del, c.6439-?_8027+?del - DMD_014554 - 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
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del, c.6439-?_8027+?del - DMD_014554 - 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
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del, c.6439-?_8027+?del - DMD_014554 - 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
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del ex45ex54del, c.6439-?_8027+?del - DMD_014554 - 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
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0170 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0778 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7336 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7758 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD M4762 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1509 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4427 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45ex54, c.6439-?_8027+?del - DMD_014554 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_54i c.(6381_6537)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)del g.(31627822_31658109)_(31968416_32216973)del del ex45-54 - DMD_014554 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
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