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.

514 entries on 6 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     
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >21y - - no medication; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del 51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case10 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del 51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case12 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2048 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2048 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1843 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1843 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1859 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1859 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1864 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1864 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1950 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1950 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1951 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1951 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1644 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1644 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2532 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2532 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1586 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1586 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2388 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2388 database - M - Italy - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in mother PubMed: Tuffery-Giraud 2009, UMD 1619 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1619 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1474 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1474 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1493 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1493 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 330 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 330 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1207 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1207 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1209 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1209 database - M - (France) - 8y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 331 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 331 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 332 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 332 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 716 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 716 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 41 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 41 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 333 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 333 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2665 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2665 database symptomatic DMD carrier, affected son F - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 334 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 334 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 335 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 335 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 336 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 336 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 122 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 122 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 123 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 123 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 338 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 338 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1262 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1262 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2831 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2831 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 339 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 339 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 145 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 145 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1268 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1268 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 733 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 733 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 3025 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3025 database - M - Italy - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 3030 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 3030 database - F - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2521 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2521 database - M - Egypt - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1757 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1757 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1696 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1696 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 1925 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1925 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2590 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2590 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Tuffery-Giraud 2009, UMD 2224 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2224 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2232 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2232 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 de novo, in patient PubMed: Lo 2006 - - De novo - - - - - DNA MLPA, PCRm - - DMD - PubMed: Lo 2006 non-carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(e51-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del e51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(e51-e51del) p.fs? Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del e51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >14y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(e51-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del e51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(e51-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del e51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(e51-e51del) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del e51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 carrier sister PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(7310_7542del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Eritrea - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del ex51del; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del ex51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del ex51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del ex51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del ex51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 50i_51i c.(7309+13_7422)_(7422_7628)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31792197_31838079)del g.(31729663_31774080)_(31774080_31819962)del del ex51; c.(7309+1_7310-1)_(7542+1_7543-1)del - DMD_015151 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
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