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.

118 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     
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del 46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case8 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1389 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1389 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 1096 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1096 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 283 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 283 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 284 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 284 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 285 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 285 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 1035 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1035 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 734 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 734 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2745 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2745 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 2566 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2566 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2470 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2470 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tuffery-Giraud 2009, UMD 2131 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2131 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2153 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2153 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(e46-e49del) p.fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del e46-e49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(e46-e49del) p.fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del e46-e49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(e46-e49del) p.fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del e46-e49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(e46-e49del) p.fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del e46-e49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(e46-e49del) p.fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del e46-e49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA ? - - MD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.(6615_7200del) p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Australia - >7y - - - 1 Peter Taylor
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat142 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat143 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 59 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D32 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D672 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D722 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D776 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46ex49, c.6615-?_7200+?del - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49, c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - - - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del ex46-49del - DMD_014649 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P67 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del ex46-49del - DMD_014649 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P68 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del ex46ex49del, c.6615-?_7200+?del  - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del ex46ex49del, c.6615-?_7200+?del  - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD8313 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0509 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3406 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.fs Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del - - DMD_014649 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Algeria - - - - - 1 Alessandra Ferlini
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.fs Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del - - DMD_014649 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Algeria - - - - - 1 Alessandra Ferlini
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.fs Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del - - DMD_014649 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Ukraine - - - - - 1 Alessandra Ferlini
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49; c.(6614+1_6615-1)_(7200+1_7201-1)del - DMD_014649 - 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 8/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.fs Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 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
./. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del - del ex46-49, dup ex53-62 - DMD_014649 non-contiguous del ex46-49 and dup ex53-62 PubMed: Luce 2021, PubMed: Luce 2024 - - Germline - - - - - DNA MLPA BLOOD - MD #477 PubMed: Luce 2021 del-dup M - Argentina - - - - - 1 Florencia Giliberto
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del - - - DMD_014649 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #736 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Megarbane 2021 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P71 PubMed: Patel 2021 carrier female F - India India-W - - - - 1 Johan den Dunnen
+/. 45i_49i c.(6537_6705)_(7099-11_7309+13)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31950254_31986533)del g.(31819962_31836830)_(31932137_31968416)del del ex46-49 - DMD_014649 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P74 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
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