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.

81 entries on 1 page. Showing entries 1 - 81.
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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     
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del 51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case6 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Tuffery-Giraud 2009, UMD 30 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 30 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Tuffery-Giraud 2009, UMD 341 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 341 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2554 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2554 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2076 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2076 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2081 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2081 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(e51-e53del) p.fs Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del e51-e53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(e51-e53del) p.fs Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del e51-e53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(e51-e53del) p.fs Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del e51-e53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(e51-e53del) p.fs Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del e51-e53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >11y - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.? Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - (Australia) - - - - - 1 Peter Taylor
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(7310_7872del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat81 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat133 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat134 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 82 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D16 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D191 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D398 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D487 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D495 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D540 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D644 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D702 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D756 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del ex51-53del - DMD_015153 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P20 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del ex51ex53del, c.7310-?_7872+?del - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del ex51ex53del, c.7310-?_7872+?del  - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2419 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3208 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD5210 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - hCK CASE_0054 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother F - Turkey - - - - - 1 Güven Toksoy
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0242 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - MD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53; c.(7309+1_7310-1)_(7872+1_7873-1)del - DMD_015153 - 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.fs Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.fs Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 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
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Maternal (confirmed) ACMG pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Nagabushana 2021 - - Germline - - - - - DNA MLPA - - DMD F82 PubMed: Nagabushana 2021 patient and heterozygous carrier mother M - India - - - - - 1 Atchayaram Nalini
./. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Yamputchong 2020 - M - Thailand - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Yamputchong 2020 - M - Thailand - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53, 7310-?_7872+?del - DMD_015153 - PubMed: Tyagi 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat100 PubMed: Tyagi 2019 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.(del) p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Basiri 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Basiri 2023 - M - Iran - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 50i_53i c.(7309+13_7422)_(7786_7908)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31792197_31838079)del g.(31658109_31679461)_(31774080_31819962)del del ex51-53 - DMD_015153 - PubMed: Trivedi 2025 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Trivedi 2025 patient M - India - - - - - 1 Sindhav Gaurang
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