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.

341 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i_7i c.(58_127)_(557_831+10)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >35y - - no medication; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 2i_7i c.(58_127)_(557_831+10)del r.(del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >23y - - no medication; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 2i_7i c.(58_127)_(557_831+10)del r.(del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >24y - - no medication; no ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2062 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2062 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2063 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2063 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2064 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2064 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1881 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1881 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 3055 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 3055 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1943 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1943 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1967 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1967 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1553 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1553 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1554 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1554 database - M - Belgium - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1600 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1600 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2010 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2010 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1487 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1487 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1489 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1489 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1494 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1494 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 749 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 749 database deceased M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 511 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 511 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1501 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1501 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2115 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2115 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 446 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 446 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 160 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 160 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 436 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 436 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 437 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 437 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2778 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2778 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 21 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 21 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2661 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2661 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2662 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2662 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2663 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2663 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 502 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 502 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 447 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 447 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 161 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 161 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 29 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 29 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 744 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 744 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 163 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 163 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 46 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 46 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1388 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1388 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 985 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 985 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 3043 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 3043 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 3044 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 3044 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1902 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1902 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 1913 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1913 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2466 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2466 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2474 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2474 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2486 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2486 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2181 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2181 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Tuffery-Giraud 2009, UMD 2207 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2207 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(e3-e7del) p.del Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del e3-e7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >25y - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(e3-e7del) p.del Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del e3-e7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >19y - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(e3-e7del) p.fs? Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del e3-e7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >12y - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(e3-e7del) p.del? Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del e3-e7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >14y - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(e3-e7del) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del e3-e7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 mother germline mosaic PubMed: Bakker - - Germline - - - - - DNA MLPA, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in mother - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA MLPA, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - has carrier mother M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - Healthy/Control - - carrier mother BMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, Southern - - Healthy/Control - - carrier mother BMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.(fs*?) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 carrier niece PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.?fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 2i_7i c.(58_127)_(557_831+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del ex3ex7del; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del ex3ex7del; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del ex3ex7del; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del ex3ex7del; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del ex3ex7del; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.(94_649del) p.? Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat76 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat77 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat78 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat79 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 2i_7i c.(58_127)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)del g.(32699102_32809585)_(32849787_33020174)del del ex3-7; c.(93+1_94-1)_(649+1_650-1)del - DMD_010307 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


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