Unique variants in gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

5349 entries on 54 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 1 - c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.? g.32472950_32472951inv - 3433-2_ 3433-1invAG - DMD_003821 - PubMed: Wang 2019 - - Germline - - - - - Johan den Dunnen
+/. 40 _1_40i, _1_43i, 3i_69i, 44i_63i, 12i_51i, 9i_44i, 2i_8i, 47i_51i, 16i_46i, 56, 33, 17, 16, 12, 11, 10, 10 more items c.? pathogenic (recessive), pathogenic (dominant) r.?, r.(?) p.? g.? - del ex1-29 ex40, dup ex1, ex42-43, dup ex4-6 ex61-69, dup ex45-55 ex63, del 8-10,21-26, dup 3-10,21-29, 31 more items - DMD_030140, DMD_030143, DMD_030469, DMD_034563, USP9X_000005, DMD_031351, DMD_031044, DMD_030308, 5 more items - PubMed: Deepha 2017, PubMed: Wang 2014, PubMed: De Almeida 2017, PubMed: Ma 2018 - - Germline/De novo (untested), Germline, De novo - - - - - Johan den Dunnen, Luz Berenice Lopez-Hernandez
-/. 1 0-Dp427c c.-202238G>A - r.(?) p.(=) g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - - - Johan den Dunnen
+/. 1 _0_9i c.(?_-129319)_(960+1_961-1)del - r.0? p.0? g.(32663270_32715986)_(33358748_?)del - - - DMD_010009 deletion includes DXS1242 (DYSII) - - - Germline - - - - - Mireille Claustres
-?/. 1 0-Dp427c c.-128499_-128498del - r.(?) p.(=) g.33357927_33357928del g.33339810_33339811del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - - - Kevin Flanigan
-/. 1 0-Dp427c c.-128410A>C - r.(=) p.(=) g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - - - Kevin Flanigan
?/. 1 _0_1 c.(?_-128297)_(-127947_-1)del - r.? p.? g.(33229430_33357376)_(33357726_?)del - - - DMD_010000 deletion Dp427c (brain) promoter only - - - Unknown - - - - - Johan den Dunnen
+/. 4 _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0?, p.? g.(33038318_33229398)_(33357726_?)del - chrX:g.(33109254_33109360)_(33268716_38091392)del - DMD_010001 deletion includes Dp427c, 159.4 Kb deletion PubMed: delGaudio 2008, Jorge ESHG2006 P1191 - - Germline - - - - - Ieke Ginjaar, Johan den Dunnen, Tanja Lalic
+/. 1 _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0? g.(33038318_33229398)_(33357726_?)del - - - DMD_010001 deletion includes Dp427c - - - Germline - - - - - Ieke Ginjaar
?/. 1 _0_1i c.(?_-128297)_(31+1_32-1)dup - r.? p.? g.(33038318_33229398)_(33357726_?)dup - - - DMD_020001 non-contiguous duplication duplication brain/muscle promoter and exons 45-55 - - - Germline - - - - - Jiang Wenting
+/. 4 _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0 g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan, Ayfer Ulgenalp
+/. 1 _0_2_ c.[(?_-128297)_(-127947_-1)dup;(31+1_32-1)_(93+1_94-1)dup] - r.? p.? g.[(32867938_33038255)_(33038318_33229398)dup;(33357376)_(33357726_?)dup] - - - DMD_030002 non-contiguous duplication exon Dp427c and exon 2 PubMed: Tuffery-Giraud 2009, UMD 2612 database - - Germline - - - - - Johan den Dunnen
+/. 1 _0_2i c.(?_-128297)_(93+1_94-1)del - r.0 p.0 g.(32867938_33038255)_(33357726_?)del - Dp427c,Dp427p - DMD_040323 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] - r.(?) p.? g.? - chrX:g.[(33256170_33256641)_(33268673_33268775)dup; (32711863_32712214)_(33111518_33111742)dup] - DMD_030007 non-contiguous duplication exons 1c (12 Kb) and 1m-7 (399 Kb) PubMed: delGaudio 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 _0_7i c.(?_-128297)_(649+1_650-1)del - r.0 p.? g.(32717411_32827609)_(33357726_?)del - Dp427c,Dp427p - DMD_010007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] - r.? p.? g.? - - - DMD_030009 1 more item PubMed: Schwartz 2004 - - Germline - - - - - Marianne Schwartz
+/. 1 _1_9i c.(?_-128297)_(960+1_961-1)dup - r.(?) p.? g.(32663270_32715986)_(33357726_?)dup - ex1ex9dup - DMD_020109 - - - - Unknown - - - - - Alessandra Ferlini
+/., +/+ 4 _1_18i, _0_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0? g.(32519960_32536124)_(33357726_?)del - del1b-18 - DMD_010018 deletion includes Dp427c, centrimeric breakpoint close to marker BBJ, deletion includes Dp427c, 1 more item PubMed: Kalman 2011, PubMed: Stockley 2007, PubMed: Brown 1996, PubMed: Brown - - Germline, Unknown - - - - - Johan den Dunnen, Peter Ray
+/. 1 _0_30i c.(?_-128297)_(4233+1_4234-1)del - r.0 p.0 g.(32408299_32429868)_(33357726_?)del - - - DMD_010030 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 _0_31i c.(?_-128297)_(4344+1_4345-1)del - r.0? p.? g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 _0_44i c.(?_-128297)_(6438+1_6439-1)del - r.0 p.0 g.(31986632_32235032)_(33357726_?)del - - - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - - - Johan den Dunnen, Ayfer Ulgenalp
+/. 1 _1_45i c.(?_-128297)_(6614+1_6615-1)del - r.0? p.0? g.(31950345_31986455)_(33357726_?)del - ex1ex45del - DMD_010145 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 _0_47i c.(?_-128297)_(6912+1_6913-1)del - r.0 p.0 g.(31893491_31947712)_(33357726_?)del - - - DMD_010047 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/., +/+ 9 _0_79_ c.(?_-128297)_(*1_?)del - r.0, r.0? p.0, p.0? g.(?_31140035)_(33357726_?)del, g.(29686622_29935580)_(33357726_?)del, 1 more item - chrX:g.(?_31042316)_(33268716_?)del, Dp427p; Dp427c - DMD_010079, DMD_040054 deletion incl. Dp427c, whole gene deletion incl. Dp427c, >2.3 Mb whole gene deletion, 2 more items PubMed: Flanigan 2009, PubMed: delGaudio 2008, PubMed: Zhang 2004 - - Germline, Unknown, Germline/De novo (untested) - - - - - Kevin Flanigan, Ieke Ginjaar, Johan den Dunnen
-/. 1 0-Dp427c c.-128249G>T - r.(=) p.(=) g.33357678C>A g.33339561C>A - - DMD_001386 - PubMed: Flanigan 2009 - - Germline - 0.97 - - - Kevin Flanigan
-/. 3 0-Dp427c c.-128163A>G - r.(?), r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 36/692, 0.11, 2/28 - - - Kevin Flanigan, Laurence Michel-Calemard, Franziska Joncourt
-/. 1 0-Dp427c c.-127831del - r.(=) p.(=) g.33357260del g.33339143del -127831delA - DMD_001387 - - - - Germline - 0.01 - - - Kevin Flanigan
-/. 1 0-Dp427c c.-127810T>C - r.(=) p.(=) g.33357239A>G g.33339122A>G - - DMD_001388 - - - - Germline - 0.01 - - - Kevin Flanigan
?/. 1 1ci_7i c.(-127946_-244)_(649+1_650-1)dup - r.? p.? g.(32717411_32827609)_(33229673_33357375)dup - - - DMD_020007 extra copy exons 1m-7 DMD gene email request - - Germline - - - - - Johan den Dunnen
+/. 1 0_2i c.(-127947_-1)_(93+1_94-1)del - r.? p.? g.(32867938_33038255)_(33229430_33357376)del - ex1ex2del - DMD_010002 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 0_4i c.(-127947_-1)_(264+1_265-1)del - r.0? p.0? g.(32841505_32862899)_(33229430_33357376)del - - - DMD_010004 Dp427c present - - - Germline - - - - - Ayfer Ulgenalp
+/. 1 0_13i c.(-127947_-1)_(1602+1_1603-1)del - r.? p.? g.(32591964_32613873)_(33229430_33357376)del - ex1ex13del - DMD_010013 - - - - Unknown - - - - - Alessandra Ferlini
-/. 1 0-Dp427m c.-46953C>G - r.(?) p.(=) g.33276382G>C g.33258265G>C - - DMD_000932 - Affymetrix-2967109 - - Germline - 0.46 - - - Johan den Dunnen
?/. 1 _1_ c.(?_-25798)_(7+108860_?)x3 - r.? p.? g.(?_33120563)_(33255227_?)[3] - chrX(33,158,437-33,293,101)x3 - DMD_040076 unknown reference sequence hg18 or hg19; 2 copies detected, location additional copy not determined - - - Unknown - - - - - Johan den Dunnen
-/. 1 0-Dp427m c.-25482G>C - r.(?) p.(=) g.33254911C>G g.33236794C>G - - DMD_000931 - Affymetrix-2967095 - - Germline - 0.04 - - - Johan den Dunnen
+/. 1 0-Dp427m c.-13496_31+1783del - r.0? p.0? g.33227616_33242925del g.33209499_33224808del - - DMD_001358 15.3 kb deletion PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.-1443_31+4726delinsTTTTTAAAATTA - r.0? p.0? g.33224673_33230872delinsTAATTTTAAAAA g.33206556_33212755delinsTAATTTTAAAAA -1443_31+4726delins12 - DMD_001359 6.2 kb deletion PubMed: Bastianutto 2002, {GenBankAF373844} - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.-807A>T - r.(=) p.(=) g.33230236T>A g.33212119T>A - - DMD_001389 - - - - Germline - 0.01 - - - Kevin Flanigan
+/. 1 1 c.-648_0dup - r.(?) p.(Met1?) g.33229430_33230077dup g.33211313_33211960dup - - DMD_002085 de novo, in patient UMD 366 database - - De novo - - - - - Johan den Dunnen
-/. 1 0-Dp427m c.-419A>G - r.(?) p.(=) g.33229848T>C g.33211731T>C -176A>G - DMD_001008 - PubMed: Tuffery 1993 - - Germline - 1/13 - - - Mireille Claustres
?/. 2 5'UTR c.-342G>A VUS r.(?) p.(=) g.33229771C>T - - - DMD_046369 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/+ 6 _1_79_, _1m_79_ c.(?_-244)_(*2691_?)del - r.0 p.0 g.(?_31140035)_(33229430_)del, g.(25040000_28600000)_(33229674_?)del, 3 more items - - - DMD_010179, DMD_040079, DMD_040080, DMD_040081, DMD_040082 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD, deletion incl. NR0B1 (DAX1), GK, DMD, 2 more items L Medne ASHG 2010 A1669, PubMed: Zhang 2004, Journal: Zhang 2004 - - Germline, Unknown yes - - - - Johan den Dunnen
-/. 1 1 c.-114dup - r.(?) p.(=) g.33229543dup g.33211426dup -114dupT - DMD_001390 - PubMed: Flanigan 2009 - rs72470542 Germline - 4/680 - - - Kevin Flanigan
+?/. 1 1 c.-85T>C - r.(?) p.(=) g.33229514A>G g.33211397A>G - - DMD_002558 may disrupt translation control sequence PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - TspRI+ - - Johan den Dunnen
?/. 1 5' UTR c.-75G>A VUS r.(?) p.(=) g.33229504C>T - - - DMD_046368 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 2 1 c.-54T>A VUS r.(?), r.(=) p.(=) g.33229483A>T g.33211366A>T - - DMD_002273 - PubMed: Flanigan 2009, PubMed: Wang 2019 - - Germline - - - - - Kevin Flanigan, Johan den Dunnen
+/. 1 1 c.-29_-28ins(603) - r.0? p.0? g.33229457_33229458ins(603) - - - DMD_000149 L1 insertion, no Dp427m RNA PubMed: Yoshida - - Germline - - - - - Johan den Dunnen
-/., ?/. 3 1 c.-8T>A - r.(?), r.-8u>a p.(=), p.= g.33229437A>T g.33211320A>T - - DMD_000369 - PubMed: Mendell 2001, from website {DBsub-Emory}, PubMed: Kesari 2009 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde, Akanchha Kesari
+/. 1 _1_1i_ c.(?_-1)_(31+83135_?)del - r.0? p.0? g.(?_33146264)_(33229430_?)del - - - DMD_040077 inherited maternal grand mother PubMed: Carsana - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.(?_-1)_(31+1_32-1)del - r.0? p.0? g.(33038318_33229398)_(33229430_?)del - - - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1987 database - - Germline - - - - - Johan den Dunnen
+/. 8 _1_1i c.(?_-1)_(31+1_32-1)del - r.?, r.0? p.?, p.0? g.(33038318_33229398)_(33229430_?)del - del ex1 - DMD_010101 del incl. promotor; de novo, in patient, Dp427c present, 1 more item PubMed: Tuffery-Giraud 2009, UMD 3007 database, PubMed: Beggs, PubMed: Hoffman, PubMed: Flanigan 2009, 3 more items - - Germline/De novo (untested), De novo, Germline - - - - - Luz Berenice Lopez-Hernandez, Johan den Dunnen, Kevin Flanigan, Albena Todorova
+/. 2 _1_1i c.(?_-1)_(31+1_32-1)del - r.0? p.0? g.(33038318_33229398)_(33229430_?)del - - - DMD_010101 del incl. promotor PubMed: Abbadi 1994, UMD 2914 database, PubMed: Abbadi 1994, UMD 2915 database - - Germline - - - - - Johan den Dunnen
+/. 8 _1_1i c.(?_-1)_(31+1_32-1)del - r.0?, r.?, r.0, r.(e1-e1del) p.0?, p.?, p.0 g.(33038318_33229398)_(33229430_?)del - del ex1, del e1 - DMD_010101 deletion from 5'DYS MSB to Dp427p promoter (Purkinje) PubMed: Cho 2017, PubMed: Frisso, PubMed: Tuffery-Giraud 2009, UMD 1594 database, PubMed: Chen 2013, 1 more item - - Germline, Germline/De novo (untested), Unknown yes - - - - Ieke Ginjaar, Moon-Woo Seong, Johan den Dunnen, Mireille Claustres
+?/., +/. 3 _1_1i c.(?_-1)_(31+1_32-1)dup - r.(=?), r.? p.(=?), p.? g.(33038318_33229398)_(33229430_?)dup - - - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
-/. 1 _1_1i c.(?_-1)_(31+1_32-1)dup - r.? p.? g.(33038318_33229398)_(33229430_?)dup - - - DMD_020101 - - - - Germline - - - - - Lucila Sandoval Ramirez
?/. 1 _1_1i c.(?_-1)_(31+1_32-1)dup - r.? p.? g.(33038318_33229398)_(33229430_?)dup - - - DMD_020101 - - - - Germline - - - - - Luz Berenice Lopez-Hernandez
+/. 1 _1_11i c.(?_-1)_(31+1_32-1)dup;(960+1_961-1)_(1331+1_1332-1)dup - r.? p.? g.(32632571_32662248)_(32663270_32715986)dup;(33038318_33229398)_(33229430_?)dup - non-contiguous dup ex1 and 10-11 - DMD_040275 MLPA detected non-contiguous duplication exons 1 and 10-11 PubMed: Baskin 2014 - - Germline - - - - - Johan den Dunnen
+/. 10 _1_ c.(?_-1)_(31+1_94-1)del - r.0?, r.0 p.0?, p.? g.(32867938_33229398)_(33229430_?)del - TD, Pr1(+) - DMD_040052, DMD_040356 TD, Pr1(+), Pm PubMed: Bermudez-Lopez 2014, PubMed: Ikezawa, PubMed: Taylor 2007, PubMed: Bellayou 2009 - - Germline, De novo yes - - - - Miguel Angel Alcántara-Ortigoza, Johan den Dunnen, Michael Buckley
+/. 1 _1_1i_ c.(?_-1)_(31+83220_94-1)del - r.0? p.0 g.(32867938_33146179)_(33229430_?)del - - - DMD_040257 deletion muscle and Purkinje promoter PubMed: Carsana 2010 - - Unknown - - - - - Antonella Carsana
+/. 6 _1_2i, _1_1i c.(?_-1)_(93+1_94-1)del - r.0? p.0?, p.0 g.(32867938_33038255)_(33229430_?)del - - - DMD_010102 deletion muscle promoter PubMed: Covone 1991, PubMed: Gilgenkrantz, PubMed: Zeng 2007, PubMed: Carsana 2010, PubMed: Baumbach - - Germline, Unknown - - - - - Johan den Dunnen, Alessandra Ferlini, Antonella Carsana
+/. 2 _1_3i c.(?_-1)_(186+1_187-1)del - r.?, r.0? p.?, p.0? g.(32862978_32867844)_(33229430_?)del - del ex1-3 - DMD_010103 - PubMed: Cho 2017, PubMed: Yuge - - Germline/De novo (untested), Germline - - - - - Moon-Woo Seong, Johan den Dunnen
+/. 1 _1_4i c.(?_-1)_(264+1_265-1)del - r.0? p.0? g.(32841505_32862899)_(33229430_?)del - - - DMD_010104 - PubMed: Yuge - - Germline - - - - - Johan den Dunnen
+/. 1 _1_5i c.(?_-1)_(357+1_358-1)del - r.0? p.0? g.(32834758_32841411)_(33229430_?)del - - - DMD_010105 - PubMed: Janssen 2005 - - Germline - - - - - Bart Janssen
+/. 1 _1_6i c.(?_-1)_(530+1_531-1)del - r.? p.? g.(32827729_32834584)_(33229430_?)del - del ex1-6 - DMD_010106 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 8 _1_7i c.(?_-1)_(649+1_650-1)del - r.0? p.0? g.(32717411_32827609)_(33229430_?)del - - - DMD_010107 - PubMed: Tuffery-Giraud 2009, UMD 2562 database, PubMed: Mital, PubMed: Zeng 2007, PubMed: Gilgenkrantz, 3 more items - - Germline - - - - - Johan den Dunnen, Mayana Zatz, Kevin Flanigan
+/. 1 _1_8i c.(?_-1)_(831+1_832-1)del - r.0? p.0? g.(32716116_32717228)_(33229430_?)del - - - DMD_010108 - PubMed: Tuffery-Giraud 2009, UMD 2415 database - - Germline - - - - - Johan den Dunnen
+/. 1 _1_9i c.(?_-1)_(960+1_961-1)del - r.0? p.0? g.(32663270_32715986)_(33229430_?)del - - - DMD_010109 del incl. DXS1242; de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1558 database - - De novo - - - - - Johan den Dunnen
+/. 1 _1_9_ c.(?_-1)_(960+1_1332-1)del - r.0? p.0? g.(32632571_32715986)_(33229430_?)del - - - DMD_040239 - PubMed: Taylor 2007 - - Germline - - - - - Michael Buckley
+/. 1 _1_11i c.(?_-1)_(1331+1_1332-1)dup - r.? p.? g.(32632571_32662248)_(33229430_?)dup - - - DMD_020111 - PubMed: Zeng 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_12i c.(?_-1)_(1482+1_1483-1)del - r.0? p.0? g.(32613994_32632419)_(33229430_?)del - - - DMD_010112 - Jorge ESHG2006 P1191 - - Germline - - - - - Rosário dos Santos
+/. 2 _1_13i c.(?_-1)_(1602+1_1603-1)del - r.?, r.0? p.?, p.0? g.(32591964_32613873)_(33229430_?)del - del ex1-13 - DMD_010113 - PubMed: Suh 2017, PubMed: Hodgson - - Germline/De novo (untested), Germline - - - - - Johan den Dunnen
+/. 1 _1_16i c.(?_-1)_(1992+1_1993-1)dup - r.? p.? g.(32563452_32583818)_(33229430_?)dup - dup ex1-16 - DMD_020116 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - Moon-Woo Seong
+/. 1 _1_17i c.(?_-1)_(2168+1_2169-1)del - r.0? p.0? g.(32536249_32563275)_(33229430_?)del - - - DMD_010117 - - - - Germline - - - - - Mayana Zatz
+/. 3 _1_18i c.(?_-1)_(2292+1_2293-1)del - r.0? p.0? g.(32519960_32536124)_(33229430_?)del - del1-18 - DMD_010118 - PubMed: Kalman 2011, PubMed: Prior 2005 - - Germline - - - - - Johan den Dunnen, Mayana Zatz
+/. 1 _1_18i c.(?_-1)_(2292+1_2293-1)del - r.0? p.0? g.(32519960_32536124)_(33211313_?)del - - - DMD_040260 breakpoint within 5 kb centromeric of BB (cell line GM07691B) PubMed: Brown 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_18i c.(?_-1)_(2292+1_2293-1)inv - r.2293_*2691delinsJX283354.1:110_685 p.? g.(32519960_32536124)_(148958699_148986562)inv - 46,Y,inv(X)(p21.2q28) - DMD_040267 - PubMed: Takeshima 2010, PubMed: Tran 2013 - - Germline - - - - - Masafumi Matsuo
+/. 1 18i_79_ c.(?_-1)_(2292+1_2293-1)inv - r.-244_2292delinsJX283354.1:1_109 p.? g.(32519960_32536124)_(148958699_148986562)inv - - 46,Y,inv(X)(p21.2q28) DMD_040268 - PubMed: Tran 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_19i c.(?_-1)_(2380+1_2381-1)del - r.0? p.0? g.(32509636_32519871)_(33229430_?)del - - - DMD_010119 - PubMed: Giliberto - - Germline - - - - - Johan den Dunnen
+/. 1 _1_19i c.(?_-1)_(2380+1_2381-1)inv - r.? p.? g.(32509636_32519871)_(154250828_?)inv - - - DMD_040361 inversion disrupting DMD and RPGR genes in Japanese Spitz dog PubMed: Atencia-Fernandez 2015 - - animal model yes - - - - Johan den Dunnen
+/. 1 _1_20i c.(?_-1)_(2622+1_2623-1)dup - r.? p.? g.(32503217_32509393)_(33229430_?)dup - - - DMD_020120 - PubMed: Prior 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_19_ c.(?_-1)_(2380+1_4072-1)del - r.0? p.0? g.(32430031_32519871)_(33229430_?)del - - - DMD_040349 - - - - Germline - - - - - L. Lukovic
+/. 1 _1_25i c.(?_-1)_(3432+1_3433-1)del - r.0? p.0? g.(32472950_32481555)_(33229430_?)del - - - DMD_010125 - - - - Germline - - - - - Ieke Ginjaar
+/. 1 _1_30i c.(?_-1)_(4233+1_4234-1)del - r.0? p.0? g.(32408299_32429868)_(33229430_?)del - - - DMD_010130 - Vancso ESHG2008 P01.221 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_41i c.(?_-1)_(5922+1_5923-1)del - r.0? p.0? g.(32328394_32360216)_(33229430_?)del - - - DMD_010141 - - - - Germline - - - - - Peter Taylor
+/. 3 _1_43i c.(?_-1)_(6290+1_6291-1)del - r.0? p.0? g.(32235181_32305645)_(33229430_?)del - - - DMD_010143 - PubMed: Tuffery-Giraud 2009, UMD 1820 database, PubMed: Prior 2005, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 1 _1_44i c.[(?_-1)_(31_93); (6290+1_6291-1)_(6438+1_6439-1)]del - r.0? p.0? g.? - - - DMD_030544 de novo, in patient; non-contiguous deletion Alcantara, ASHG2004, P786 - - De novo - - - - - Johan den Dunnen
+/. 7 _1_44i c.(?_-1)_(6438+1_6439-1)del - r.?, r.0? p.?, p.0? g.(31986632_32235032)_(33229430_?)del - del ex1m-54, del ex1m-44, del ex1-44 - DMD_010154, DMD_010144 del incl. promotor PubMed: Tuffery-Giraud 2009, UMD 3014 database, PubMed: Taylor 2007, PubMed: Wang 2017, 2 more items - - Germline/De novo (untested), Germline - - - - - Luz Berenice Lopez-Hernandez, Johan den Dunnen, Michael Buckley, Mayana Zatz
+/. 1 _1_47i c.(?_-1)_(6912+1_6913-1)del - r.0? p.0? g.(31893491_31947712)_(33229430_?)del - - - DMD_010147 - - - - Germline - - - - - Albena Todorova
+/. 2 _1_48i c.(?_-1)_(7098+1_7099-1)del - r.0? p.0? g.(31854937_31893304)_(33229430_?)del - - - DMD_010148 del incl. promotor PubMed: Tuffery-Giraud 2009, UMD 3015 database - - Germline - - - - - Johan den Dunnen, Mayana Zatz
+/. 1 _1_47_ c.(?_-1)_(6912+1_7661-1)del - r.0? p.0? g.(31697704_31947712)_(33229430_?)del - - - DMD_040128 deletion all exons cDNA97-1 into cDNA44-1 PubMed: Baumbach - - Germline - - - - - Johan den Dunnen
+/+, +/. 2 _1_50i c.(?_-1)_(7309+1_7310-1)del - r.0?, r.? p.0?, p.? g.(31792310_31838091)_(33229430_?)del - DelEX3,4,6,8,12,13,17,19,43,48,50,Dp427m, mPCR del 1-50 - DMD_040134 - PubMed: Dalichaouche 2017 - - Unknown, Germline/De novo (untested) - - - - - Imane Dalichaouche, Johan den Dunnen
+/. 1 _1_51i c.(?_-1)_(7542+1_7543-1)del - r.0? p.0? g.(31747866_31792076)_(33229430_?)del - - - DMD_010151 - PubMed: Tuffery-Giraud 2009, UMD 1484 database - - Germline - - - - - Johan den Dunnen
+/. 1 _1_52 c.[(?_-1)_(831+1_832-1)dup; (6438+1_6439-1)_(7660+1_7661-1)del] - r.0? p.(0?) g.? - - - DMD_030152 non-contiguous duplication exons 1-8, deletion 45-52 PubMed: Zeng 2007 - - Germline - - - - - Johan den Dunnen
+/. 2 _1_55i c.(?_-1)_(8217+1_8218-1)del - r.0? p.0?, p.? g.(31525571_31645789)_(33229430_?)del - - - DMD_010155 - Bovolenta, in press - - Germline - - - - - Alessandra Ferlini
+/. 1 _1_60_ c.(?_-1)_(9084+1_?)del - r.0? p.0? g.(?_31462597)_(33229430_?)del - TD - DMD_040063 - PubMed: Alcantara 1999, PubMed: Bermudez-Lopez 2014 - - De novo yes - - - - Miguel Angel Alcántara-Ortigoza
+/. 2 _1_60i c.(?_-1)_(9084+1_9085-1)del - r.?, r.0? p.?, p.0? g.(31366752_31462597)_(33229430_?)del - del ex1-60 - DMD_010160 - PubMed: Cho 2017, PubMed: Covone 1991 - - Germline/De novo (untested), Germline - - - - - Moon-Woo Seong, Johan den Dunnen
+/. 1 _1_61i c.(?_-1)_(9163+1_9164-1)del - r.? p.? g.(31341776_31366672)_(33229430_?)del - ex1-61 del - DMD_010161 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_73i c.(?_-1)_(10394+1_10395-1)del - r.0? p.0? g.(31187719_31190464)_(33229430_?)del - - - DMD_010173 - PubMed: Hwa 2007 - - Germline - - - - - Johan den Dunnen
+/. 5 _1_79_, _1_79i c.(?_-1)_(*1_?)del - r.0?, r.? p.0?, p.? g.(?_31140035)_(33229430_?)del - del ex1-79 - DMD_010179 whole gene deletion Vancso ESHG2008 P01.221, PubMed: Tuffery-Giraud 2009, UMD 1592 database, PubMed: Cho 2017, 1 more item - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Moon-Woo Seong, Mireille Claustres
+/., +/+ 4 _1_79_, _0_79_ c.(0), c.0 pathogenic (recessive) r.?, r.0, r.0? p.?, p.0, p.0? g.(?_31137345)_(33229673_?)del, g.(25000000_28500000)_(33357726_37000000)del, 1 more item - dog X:26,238,000-31,869,800del - DMD_003415, DMD_040054 >5.6 Mb deletion including complete DMD gene, ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted, 1 more item PubMed: Sanchez 2018, PubMed: Piko 2009, PubMed: Chelly 1988, UMD 727 database - - animal model, Germline -, yes - - - - Johan den Dunnen
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