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.

121 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_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 2055 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2055 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 1679 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1679 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 2766 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2766 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 631 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 631 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 315 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 315 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 43 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 43 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2894 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2894 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 2588 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2588 database - F - France - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Tuffery-Giraud 2009, UMD 2460 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2460 database - M - France - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del e48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >5y6m - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del e48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Rani 2013, Journal: Rani 2013 - - Unknown - 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >6y6m - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 de novo, in patient - - - De novo - - - - - DNA MLPA - - MD - - - M - Germany - - - - - 1 Andre Lucas
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(6913_7873_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Unknown - - - - - DNA MLPA - - hCK - - - F - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat50 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat51 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat52 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D14 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D21 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D213 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D252 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D332 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D463 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D680 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D684 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D703 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D705 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D707 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D736 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48ex54, c.6913-?_8027+?del - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del, c.6913-?_8027+?del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del, c.6913-?_8027+?del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del, c.6913-?_8027+?del - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del ex48ex54del, c.6913-?_8027+?del  - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0206 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7995 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD8806 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1018 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4703 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - BMD CASE_0031 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0241 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1280 PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother M - Poland - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.(6912+1_6913-1)_(8027+1_8028-1)del - DMD_014854 - 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
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 9/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - 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_54i c.(6809_7017)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.fs Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 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_54i c.(6809_7017)_(7908_8068)del r.? p.(fs) Unknown ACMG pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Nagabushana 2021 - - De novo - - - - - DNA MLPA - - DMD F73 PubMed: Nagabushana 2021 patient, non-carrier mother M - India - - - - - 1 Atchayaram Nalini
./. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54; c.6913-?_8027+?del - DMD_014854 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - DMD DMD-05 PubMed: Huaman-Dianderas 2019, PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del del ex48-54 - DMD_014854 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P37 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. 47i_54i c.(6809_7017)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31893386_31947816)del g.(31627822_31658109)_(31875269_31929699)del - - DMD_014854 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
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