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.

248 entries on 3 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_51i c.(6537_6705)_(7422_7628)del r.? p.? Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46-51 del; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46-51 del; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1819 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1819 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1835 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1835 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1997 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1997 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2015 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2015 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 2014 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2014 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1473 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1473 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 290 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 290 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1216 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1216 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 291 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 291 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1171 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1171 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 292 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 292 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 99 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 99 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 293 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 293 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 100 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 100 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 101 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 101 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 294 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 294 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1982 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1982 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 1774 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1774 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2498 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2498 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2100 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2100 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2462 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2462 database - M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 2228 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2228 database germinal mosacism grandmother M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Tuffery-Giraud 2009, UMD 2229 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2229 database germinal mosacism grandmother M - France - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(e46-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del e46-e51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(e46-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del e46-e51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >1y3m - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(e46-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del e46-e51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Taylor 2007 - F - Australia - - - - - 1 Michael Buckley
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(6615_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat125 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat126 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat127 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat128 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat129 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat130 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat131 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D217 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D220 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D229 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D230 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D244 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D248 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D305 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D365 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D368 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D400 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D455 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D472 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D516 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D541 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D605 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51; c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D743 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46ex51, c.6615-?_7542+?del - DMD_014651 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - hCK - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51, c.(6614+1_6615-1)_(7542+1_7543-1)del - DMD_014651 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - - - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46-51del - DMD_014651 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P35 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46-51del - DMD_014651 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P62 PubMed: Yang 2019 family M - China - - - - - 2 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - 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_51i c.(6537_6705)_(7422_7628)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del ex46ex51del, c.6615-?_7542+?del - DMD_014651 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 family, 2 affected M;F - Italy - - - - - 2 Carmela Scuderi
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51 - DMD_014651 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 45i_51i c.(6537_6705)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31950254_31986533)del g.(31729663_31774080)_(31932137_31968416)del del ex46-51 - DMD_014651 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD M0964 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
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