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.

307 entries on 4 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_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y - - no medication; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46-50 del; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 1808 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1808 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 1810 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1810 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 1812 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1812 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 2438 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2438 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 1652 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1652 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 286 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 286 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 299 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 299 database - M - (France) - 21y - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 287 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 287 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 96 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 96 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 300 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 300 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 288 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 288 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 97 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 97 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 742 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 742 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 98 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 98 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 887 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 887 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 2829 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2829 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1688 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1688 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2089 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2089 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tuffery-Giraud 2009, UMD 2099 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2099 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.6615_7309del p.Arg2205Serfs*16 Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - Jorge ESHG2006 P1191, PubMed: Santos 2014 - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ - - MD PatFig5 Jorge ESHG2006 P1191, PubMed: Santos 2014 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del e46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >7y - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(e46-e50del) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del e46-e50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del e46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Rani 2013, Journal: Rani 2013 - - Unknown - 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >7y6m - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del e46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >8y - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*?) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - - De novo - - - - - DNA MLPA - - DMD - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - M - Bulgaria - - - - - 1 Bilyana Georgieva
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA, PCRm - - DMD #451 - - - - Argentina - - - - - 1 Florencia Giliberto
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46ex50del; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46ex50del; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46ex50del; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat136 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat137 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat138 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat139 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat140 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat141 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Uwineza 2014 - - Germline - - - - - DNA MLPA - - DMD P4 PubMed: Uwineza 2014 patient, mother and maternal aunt did not carry variant M - Rwanda - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 60 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - 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_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - 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_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D9 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D25 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D178 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D197 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D287 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D329 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D334 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D335 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D389 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D399 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D401 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D440 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D457 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D485 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D489 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D497 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D508 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D620 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D665 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D667 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D710 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D749 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50; c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D754 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46ex50, c.6615-?_7309+?del - DMD_014650 - 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_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50, c.(6614+1_6615-1)_(7309+1_7310-1)del - DMD_014650 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - BMD/DMD - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46-50del - DMD_014650 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P10 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46-50 del - DMD_014650 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat34 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46-50 del - DMD_014650 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat42 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46ex50del, c.6615-?_7309+?del  - DMD_014650 - 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_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del ex46ex50del, c.6615-?_7309+?del - DMD_014650 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 3/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0061 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0210 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD5938 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6092 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
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