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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 47i_40i c.(6810_7018)_(5587-23_5812)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(32360327_32361426)_(31893385_31947815)del g.(32342210_32343309)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 germline mosaicism mother PubMed: Duan 2015 - - De novo - - - 0 - DNA MLPA - - DMD 26252092-Fam PubMed: Duan 2015 2-generation family, affected boy and fetus, non-carrier mother M - China - - 0 - - 2 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.? p.? Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del ex48-50, c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - Spitali 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA ? - - BMD/DMD - Spitali 2019, submitted - M - - - - 0 - - 1 Irina Zaharieva
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.? p.? Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del ex48-50, c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - Spitali 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA ? - - BMD/DMD - Spitali 2019, submitted - M - - - - 0 - - 1 Irina Zaharieva
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(del) p.(fs?) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y 0 - medication steroids; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(del) p.(fs?) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >9y 0 - medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(del) p.(fs?) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >9y 0 - no medication 1 Manuel F. Mas Rodriguez
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(del) p.(fs) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y 0 - medication steroids; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.? p.? Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del 48-50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - - Case1 Journal: Shrestha 2016 - M - Nepal - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(del) p.(fs) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del ex48-50 del; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - - - - - M - Italy - - 0 - - 2 Alessandra Ferlini
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1842 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1842 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1854 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1854 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2069 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2069 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2003 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2003 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1659 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1659 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1660 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1660 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2427 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2427 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1971 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1971 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2527 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2527 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1601 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1601 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1998 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1998 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1469 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1469 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 271 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 271 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1048 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1048 database symptomatic DMD carrier, 2 affected nephews (1 deceased) F - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2870 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2870 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 11 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 11 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 937 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 937 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 304 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 304 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 106 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 106 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 305 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 305 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 107 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 107 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 941 database - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 941 database carrier mother, 2 affected grand-sons F - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 939 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 939 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3006 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3006 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 108 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 108 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 109 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 109 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 110 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 110 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 306 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 306 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 307 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 307 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 111 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 111 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 308 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 308 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 8 database - - De novo - - - 0 - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 8 database symptomatic DMD carrier F - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 309 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 309 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 310 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 310 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 311 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 311 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 981 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 981 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1093 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1093 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1748 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1748 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2754 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2754 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2800 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2800 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1691 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1691 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 1992 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1992 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2509 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2509 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Tuffery-Giraud 2009, UMD 2511 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2511 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2093 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2093 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2111 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2111 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2180 database - - De novo - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2180 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - Vancso ESHG2008 P01.221 - - Germline - - - 0 - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - 0 - - 4 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Hwa 2007 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 3 unrelated cases ? - Hungary - - 0 - - 3 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (confirmed) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 carrier mother, deceased brother, sister's mother 2 affected sons F - Hungary - - 0 - - 5 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 de novo, in patient PubMed: Lo 2006 - - De novo - - - 0 - DNA MLPA, PCRm - - DMD - PubMed: Lo 2006 non-carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (confirmed) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Lo 2006 - - Germline - - - 0 - DNA MLPA, PCRm - - MD - PubMed: Lo 2006 carrier mother M - China - - 0 - - 2 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (confirmed) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Lo 2006 - - Germline - - - 0 - DNA MLPA, PCRm - - MD - PubMed: Lo 2006 carrier mother M - China - - 0 - - 2 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(e48-e50del) p.fs Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del e48-e50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >5y 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(e48-e50del) p.fs Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del e48-e50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(e48-e50del) p.fs Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del e48-e50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(e48-e50del) p.fs Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del e48-e50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(e48-e50del) p.fs Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del del e48-e50; c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >13y 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Zeng 2007 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Zeng 2007 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Zeng 2007 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Zeng 2007 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - 0 - - 1 Johan den Dunnen
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Schwartz 2004 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - 0 - - 1 Marianne Schwartz
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Schwartz 2004 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - 0 - - 1 Marianne Schwartz
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA ? - - DMD - - - M - Romania - - 0 - - 1 Elena Neagu
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA ? - - DMD - - - M - Romania - - 0 - - 1 Elena Neagu
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Romania - - 0 - - 1 Elena Neagu
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - younger brother of DMD-256, carrier mother with epilepsy and antiepileptic treatment during pregnancy M - Romania - - 0 - - 1 Elena Neagu
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - older brother of DMD-255, carrier mother with epilepsy and antiepileptic treatment during pregnancy M - Romania - - 0 - - 1 Elena Neagu
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Australia - - 0 - - 1 Peter Taylor
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - (Australia) - >9y 0 - - 1 Peter Taylor
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*?) Maternal (inferred) g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - PubMed: Todorova 2008 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Todorova 2008 carrier F - Bulgaria - - 0 - - 1 Bilyana Georgieva
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Unknown g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Belgium - - 0 - - 1 Gert Matthijs
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
+/. 47i_50i c.(6810_7018)_(7309+14_7423)del pathogenic (recessive) r.(6913_7309del) p.(fs*) Parent #1 g.(31792196_31838078)_(31893385_31947815)del g.(31774079_31819961)_(31875268_31929698)del c.(6912+1_6913-1)_(7309+1_7310-1)del - DMD_014850 - - - - Germline - - - 0 - DNA MLPA - - DMD - - - M - Greece - - 0 - - 1 Emmanouil Kanavakis
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