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.

102 entries on 2 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     
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 de novo, in mother (grandmaternal allele) PubMed: Bergmann - - Germline - - - - - DNA PCR - - BMD, CMT - PubMed: Bergmann CMTX, change in GJB1 M - Germany - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Tuffery - - Germline - - - - - DNA Southern - - BMD - PubMed: Tuffery - M - France - - - - - 3 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 de novo, in patient PubMed: Carsana - - De novo - - - - - DNA PCRq - - DMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 inherited maternal grand father PubMed: Carsana - - Germline - - - - - DNA PCRq - - DMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - DMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Florentin - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Singh - - Germline - - - - - DNA Southern - - DMD - PubMed: Singh analysis 121 BMD/DMD cases M - India North - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(32_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - ESHG2010, Kitsiou-Tzeli P12.058 - - Germline - - - - - DNA arrayCGH - - DMD - ESHG2010, Kitsiou-Tzeli P12.058 - M - Greece - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Norman - - Germline - - - - - DNA Southern - - BMD - PubMed: Norman analysis 58 BMD/DMD families M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.? Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del g.32,779,413_32,706,289del - DMD_050307 73.125 Kb deletion PubMed: Hegde 2008 - - Germline - - - - - DNA arrayCGH - - MD - PubMed: Hegde 2008 carrier female F - - - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.? Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del g.32,842,800_32,662,600del - DMD_050307 180.2 Kb deletion PubMed: Hegde 2008 - - Germline - - - - - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Baumbach - - Germline - - - - - DNA Southern - - MD - PubMed: Baumbach - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - MD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - MD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - MD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - MD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Baumbach - - Germline - - - - - DNA Southern - - MD - PubMed: Baumbach - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - MD - PubMed: Muntoni - M - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Hodgson, PubMed: Hodgson - - Germline - - - - - DNA Southern - - MD - PubMed: Hodgson, PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.94_649del p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 RNA blood PubMed: Chelly - - Germline - - - - - DNA, RNA RT-PCR - - BMD - PubMed: Chelly - M - France - - - - - 2 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Norman - - Germline - - - - - DNA Southern - - BMD - PubMed: Norman analysis 58 BMD/DMD families M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.94_960del p.Phe32_Gln320del Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 breakpoint mapped (c.(94-8018_94-6636)_(650-46293_650-45732)del) PubMed: Gualandi 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMD - PubMed: Gualandi 2006 low level transcript muscle RNA M - (United Kingdom (Great Britain));(Italy) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - BMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - DMD - PubMed: Covone 1991 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Norman - - Germline - - - - - DNA Southern - - BMD - PubMed: Norman analysis 58 BMD/DMD families M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - United Kingdom (Great Britain) - >30y - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - MD - PubMed: Muntoni - M - United Kingdom (Great Britain) - >17y - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - MD - PubMed: Muntoni - M - United Kingdom (Great Britain) - >28y - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - MD - PubMed: Muntoni - M - United Kingdom (Great Britain) - >18y - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - MD - PubMed: Muntoni - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 breakpoint mapped (c.(94-24691_94-24146)_(649+1580_649+2459)del) PubMed: Gualandi 2006 - - Germline - - - - - DNA PCR, SEQ - - BMD - PubMed: Gualandi 2006 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA Southern - - DMD - PubMed: Bakker - M - Belgium - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.[94_649del,94_960del] p.[Phe32_Asp217delinsMetfs*13, Phe32_Gln320del] Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 RNA muscle, 2nd minor transcript PubMed: Gualandi 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - PubMed: Gualandi 2006 - M - (United Kingdom (Great Britain));(Italy) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA PCRm - - MD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - BMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - DMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 DMD carrier female F - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Brazil - - - - - 1 Mayana Zatz
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA Southern - - DMD - - - M - Brazil - - - - - 1 Mayana Zatz
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(ex3ex7del) p.(?) Parent #1 - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - - - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 no sequence ex3-7 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.? Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR - - DMD F109 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7, c.94-?_649+?del - DMD_050307 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - - - DNA PCRm, MLPA - - BMD/DMD B197 PubMed: Murugan 2010 analysis 150 unrelated DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 - PubMed: Tran 2013 - - Germline/De novo (untested) - 3/152 patients - - - DNA, RNA PCRm, RT-PCR - - BMD/DMD Pats PubMed: Tran 2013 analysis 152 muscular dystrophy patients M - Viet Nam - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Florentin - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - BMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 - PubMed: Tran 2013 - - Germline/De novo (untested) - 3/152 patients - - - DNA, RNA PCRm, RT-PCR - - BMD/DMD Pats PubMed: Tran 2013 analysis 152 muscular dystrophy patients M - Viet Nam - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA Southern - - DMD - - - M - Brazil - - - - - 1 Mayana Zatz
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(ex3ex7del) p.(?) Parent #1 - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - BMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del del ex3-7 - DMD_050307 - PubMed: Tran 2013 - - Germline/De novo (untested) - 3/152 patients - - - DNA, RNA PCRm, RT-PCR - - BMD/DMD Pats PubMed: Tran 2013 analysis 152 muscular dystrophy patients M - Viet Nam - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA Southern - - DMD - - - M - Brazil - - - - - 1 Mayana Zatz
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(ex3ex7del) p.(?) Parent #1 - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq, PCR - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*?) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(93+1_94-1)_(649+1_650-1)del r.(94_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717411_32827609)_(32867938_33038255)del g.(32699294_32809492)_(32849821_33020138)del - - DMD_050307 - - - - Germline - - - - - DNA Southern - - DMD - - - M - Brazil - - - - - 1 Mayana Zatz
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