All variants in the DMD gene

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.

128 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Prior 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Malapert 1995, UMD 3 database - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Yuge - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Herczegfalvi 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Onengut - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Banerjee - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Singh - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del ex45-52del - DMD_054552 del excl. Dp140 ex1 PubMed: Moizard 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del ex45-52del - DMD_054552 del excl. Dp140 ex1 PubMed: Moizard 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Hodgson - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.6439_7660del p.Glu2147Leufs*21 - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - Fajkusova, ICHG2001#P1073 - {DB:Brno} - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Hodgson - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Sironi - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Covone 1991 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - contact curator - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 de novo, in patient - - - De novo - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Darras - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 mother germline mosaic; ex53 junction fragment PubMed: Darras - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Gilgenkrantz - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Kumari - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Mital - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Clausters 1991 - - Germline - - - 0 - Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Mireille Claustres
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Tanja Lalic
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Albena Todorova
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Stockley 2006 - - Germline - - - 0 - Peter Ray
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*?) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Gert Matthijs
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Gert Matthijs
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Mayana Zatz
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(ex45ex52del) p.(?) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana 2010 - - Unknown - - - 0 - Antonella Carsana
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - Germline yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - Germline yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(del) p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52, c.6439-?_7660+?del - DMD_054552 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Tran 2013 - - Germline/De novo (untested) - 2/152 patients - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Florentin - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Banerjee - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Stockley 2006 - - Germline - - - 0 - Peter Ray
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52 - DMD_054552 - PubMed: Tran 2013 - - Germline/De novo (untested) - 2/152 patients - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Yuge - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Gilgenkrantz - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - - - - Germline - - - 0 - Mayana Zatz
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(ex45ex52del) p.(?) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Carsana 2010 - - Unknown - - - 0 - Antonella Carsana
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Herczegfalvi 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Prior 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del del ex45-52, c.6439-?_7660+?del - DMD_054552 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Onengut - - Germline - - - 0 - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.(6439_7660del) p.(fs*) - pathogenic (recessive) g.(31697704_31747747)_(31986632_32235032)del g.(31679587_31729630)_(31968515_32216915)del - - DMD_054552 - PubMed: Yuge - - Germline - - - 0 - Johan den Dunnen
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