All variants in the DMD gene

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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del - - - DMD_014650 - PubMed: Luce 2021 - - Unknown - - - 0 - Florencia Giliberto
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.? - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del - - - DMD_014650 - PubMed: Luce 2021 - - Unknown - - - 0 - Florencia Giliberto
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? ACMG pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Nagabushana 2021 - - De novo - - - 0 - Atchayaram Nalini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? ACMG pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Nagabushana 2021 - - Germline - - - 0 - Atchayaram Nalini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? ACMG pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Nagabushana 2021 - - Germline - - - 0 - Atchayaram Nalini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del del ex46-50 - DMD_014650 - PubMed: Gaina 2021 - - Germline/De novo (untested) - - - 0 - Gisela Gaina
+?/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - likely pathogenic (recessive) g.(31792197_31838079)_(31950254_31986533)del g.(31774080_31819962)_(31932137_31968416)del - - DMD_014650 - - - - Germline - - - 0 - Lakshmi Bremadesam
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs?) - 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 - - - 0 - Manuel F. Mas Rodriguez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.6615_7309del p.Arg2205Serfs*16 - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) - 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 - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(e46-e50del) p.fs - 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 - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) - 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 - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs) - 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 - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Ieke Ginjaar
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Tanja Lalic
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Marianne Schwartz
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*?) - 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 - - - 0 - Bilyana Georgieva
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(del) p.(fs*) - 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 - - - 0 - Florencia Giliberto
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Gert Matthijs
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Gert Matthijs
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(?) p.fs - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Alessandra Ferlini
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Moon-Woo Seong
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.(6615_7309del) p.(fs*) - 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 - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Poh San Lai
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.? - 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 - - 0 - Johan den Dunnen
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.(fs*) - 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) - - - 0 - Chao Ling
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