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.

225 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 1847 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1847 database deceased M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 1497 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1497 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 1749 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1749 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 2494 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2494 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 277 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 277 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 896 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 896 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 94 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 94 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 279 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 279 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 280 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 280 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 2668 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2668 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2887 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2887 database de novo DMD mutation symptomatic carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 2902 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2902 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2499 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2499 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 2083 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2083 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2101 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2101 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tuffery-Giraud 2009, UMD 2104 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2104 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Wu 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Wu 2009 carrier mother and maternal grandmother M - China - - - - - 3 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(e46-e48del) p.fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del e46-e48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >11y - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(e46-e48del) p.fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del e46-e48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(e46-e48del) p.fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del e46-e48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y6m - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA MLPA, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Australia - - - - - 1 Peter Taylor
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA, PCRm - - DMD #430 - - M - Argentina - - - - - 1 Florencia Giliberto
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.(6615_7098del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Suh 2017 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat? PubMed: Suh 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat185 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat186 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat187 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat188 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 58 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D6 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D302 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D456 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D501 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D518 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D520 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D564 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D591 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D597 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D676 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D755 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48; c.(6614+1_6615-1)_(7098+1_7099-1)del - DMD_014648 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D781 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46-48del - DMD_014648 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P23 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del  - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del, c.6615-?_7098+?del - DMD_014648 - 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_48i c.(6537_6705)_(7017_7099-11)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del ex46ex48del , c.6615-?_7098+?del - DMD_014648 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - F - Italy - - - - - 1 Carmela Scuderi
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD M1521 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD5684 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6038 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7234 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7411 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7504 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD9500 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1395 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1545 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4019 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4488 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4665 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 45i_48i c.(6537_6705)_(7017_7099-11)del r.? p.? Unknown - pathogenic (recessive) g.(31854947_31893386)_(31950254_31986533)del g.(31836830_31875269)_(31932137_31968416)del del ex46-48 - DMD_014648 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.