All transcript variants in 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.

22402 entries on 225 pages. Showing entries 1 - 100.
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Effect     

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     
+/. 78i_79 c.(11046+44_*1524)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(31138512_31144715)del g.(?_31120395)_(31120395_31126598)del del ex79 - DMD_017979 - PubMed: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - 0 - Shiwen Wu
+/. 41i_79 c.(5812_5952)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(32328364_32360327)del g.(?_31120395)_(32310247_32342210)del del ex42-79 - DMD_014279 - PubMed: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - 0 - Shiwen Wu
+/. 55i_79 c.(8069_8390+28)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(31525370_31645938)del g.(?_31120395)_(31507253_31627821)del del ex56-79 - DMD_015679 - PubMed: Wang 2019 - - Germline/De novo (untested) - 1/70 cases - 0 - Johan den Dunnen
+/. 59i_79 c.(8798_8968)_(*1524_?)del pathogenic (recessive) r.? p.(fs) g.(?_31138512)_(31462714_31496362)del g.(?_31120395)_(31444597_31478245)del del ex60-79 - DMD_016079 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - 0 - Johan den Dunnen
+/. 60i_79 c.(8968_9118)_(*1524_?)dup pathogenic (recessive) r.? p.? g.(?_31138512)_(31366718_31462714)dup g.(?_31120395)_(31348601_31444597)dup dup ex61-79 - DMD_026179 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 60i_79 c.(8968_9118)_(*1524_?)dup pathogenic (recessive) r.? p.? g.(?_31138512)_(31366718_31462714)dup g.(?_31120395)_(31348601_31444597)dup del ex27-43 and dup ex61-79 - DMD_026179 non-contiguous deletion del ex27-43 and duplication ex61-79 - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 62i_79 c.(9187_9246)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(31279112_31341752)del g.(?_31120395)_(31260995_31323635)del del ex63-79 - DMD_016379 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
+/. 62i_78i c.(9187_9246)_(11046+44_*1524)del pathogenic (recessive) r.? p.? g.(31138512_31144715)_(31279112_31341752)del g.(31120395_31126598)_(31260995_31323635)del del ex63-78 - DMD_016378 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
+/. 63i_78i c.(9246_9339)_(11046+44_*1524)del pathogenic (recessive) r.? p.? g.(31138512_31144715)_(31241186_31279112)del g.(31120395_31126598)_(31223069_31260995)del del ex64-78 - DMD_016478 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - 0 - Johan den Dunnen
+/. 65i_79 c.(9538_9599)_(*1524_?)du pathogenic (recessive) - - g.(?_31138512)_(31224749_31227640)dup g.(?_31120395)_(31206632_31209523)dup - - DMD_026679 non contiguous duplication of exons 52-62 and exons 66-79 - - - Germline - - - 0 - Lakshmi Bremadesam
+/. _1_79 c.(?_-182)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del del ex1-79 - DMD_018079 - PubMed: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - 0 - Shiwen Wu
+/. _1_79 c.(?_-182)_(*1524_?)del pathogenic (recessive) r.? p.? g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del del ex1-79 - DMD_018079 - PubMed: Wang 2019 - - Germline/De novo (untested) - 1/70 cases - 0 - Johan den Dunnen
+/. 0i_79 c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del ex1ex79del, c.-244_*2691del  - DMD_010179 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Carmela Scuderi
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*) g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*) g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - Güven Toksoy
+/. 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - Güven Toksoy
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1; c.(-127947_-245)_(31+1_32-1)del - DMD_046507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.(?_-244)_31+?del - DMD_010101 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Vincenzo Nigro
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - 0 - Emiliano Giardina
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.1-?_31+?del - DMD_010101 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-182)_(-182_59)[2] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_12i c.-244(_-182)_(1403_1602)del pathogenic (recessive) r.? p.(fs*) g.(32613874_32632499)_(33229611_33357493)del g.(32595757_32614382)_(33211494_33339376)del ex1ex12del, c.-244_1482+?del - DMD_010112 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Dr Silvana Tedeschi
+/. 0i_13i c.-244(_-182)_(1602_1603-7)del pathogenic (recessive) r.? p.0? g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del del ex1-13 - DMD_010113 - PubMed: Luce 2016, Journal: Luce2016 - - Germline/De novo (untested) - - - 0 - Florencia Giliberto
+/. 0i_16i c.-244(_-182)_(1852_2085)[0] pathogenic (recessive) r.? p.(fs*) g.(32563359_32583959)_(33229611_33357493)del g.(32545242_32565842)_(33211494_33339376)del del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del - DMD_010116 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_6i c.-244(_-182)_(411_558)[0] pathogenic (recessive) r.0? p.0? g.(32827701_32834704)_(33229611_33357493)del g.(32809584_32816587)_(33211494_33339376)del delDp427m-ex6 - DMD_010106 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_7i c.-244(_-182)_(558_831+11)del pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33229611_33357493)del g.(32699101_32809584)_(33211494_33339376)del del ex1-7 - DMD_010107 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Vincenzo Nigro
+/. 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Vincenzo Nigro
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.(fs*) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.0? p.0? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_43i c.-244(_-182)_(6196_6382)[0] pathogenic (recessive) r.? p.? g.(32235089_32305740)_(33229611_33357493)del g.(32216972_32287623)_(33211494_33339376)del del ex1-43 - DMD_010143 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.(fs*) g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - B. Augello
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.0? p.0? g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Carmela Scuderi
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_45i c.-244(_-182)_(6538_6706)del pathogenic (recessive) r.? p.fs g.(31950253_31986532)_(33229611_33357493)del g.(31932136_31968415)_(33211494_33339376)del del ex01ex45, c.1-?_6614+?del - DMD_068105 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Filippo Maria Santorelli
+/. 0i_47i c.-244(_-182)_(6810_7018)[0] pathogenic (recessive) r.? p.? g.(31893385_31947815)_(33229611_33357493)del g.(31875268_31929698)_(33211494_33339376)del del ex1-47 - DMD_010147 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_48i c.-244(_-182)_(7018_7099-10)[0] pathogenic (recessive) r.? p.(fs*) g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del - DMD_010148 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_9i c.-244(_-182)_(859_988)del pathogenic (recessive) r.? p.? g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9 - DMD_010109 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 0i_9i c.-244(_-182)_(859_988)[0] pathogenic (recessive) r.? p.(fs*) g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9; c.(-127947_-245)_(960+1_961-1)del - DMD_010109 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del ex1ex60del, c.1-?_9084+?del - DMD_010160 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_62i c.-244(_-182)_(9187_9246)[0] pathogenic (recessive) r.? p.? g.(31279112_31341752)_(33229611_33357493)del g.(31260995_31323635)_(33211494_33339376)del del ex1m-62 - DMD_010162 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_79 c.-244_(*1524_?)[0] pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - 0 - Johan den Dunnen
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - 0 - Güven Toksoy
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_1i c.-244_(-182_59)[2] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup dup exDp427c-1 and dup ex45-49 - DMD_020001 non-contiguous duplication exDp427c-1 and ex45-49 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_1i c.-244_(-18[0]2_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_39i c.-244_(5449-4_5587-23)[0] pathogenic (recessive) r.? p.(fs*) g.(32361426_32364201)_(33357493_?)del g.(32343309_32346084)_(33339376_?)del del Dp427c-ex39; c.-244_(5586+1_5587-1)del - DMD_010039 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_2i c.-244_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33357493_?)dup g.(32849786_33020173)_(33339376_?)dup dup Dp427c-ex2 - DMD_020002 - PubMed: Annexstad 2019 - - Germline - 1/67 cases - 0 - Johan den Dunnen
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.(fs*) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del Dp427c-ex2; c.-244_(93+1_94-1)del - DMD_010002 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del exDp427c-2 - DMD_010002 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.(fs*) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.? g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del exDp427c-44 - DMD_010044 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0? p.0? g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del Dp427cex47del, (c.-244_6912+?del) - DMD_010047 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Milena Cau
+/. _0_9i c.-244_(859_988)del pathogenic (recessive) r.? p.0? g.(32663242_32716088)_(33357493_?)del g.(32645125_32697971)_(33339376_?)del del Dp427c-ex9 - DMD_010009 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del del gene - DMD_010080 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 24 C.3242C>A pathogenic (recessive) r.(?) p.(Ser1081*) g.32482737G>T g.32464620G>T - - DMD_003878 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Vincenzo Nigro
+/. 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.? g.32472950_32472951inv - 3433-2_ 3433-1invAG - DMD_003821 - PubMed: Wang 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_40i c.? pathogenic (recessive) r.? p.? g.? - del ex1-29 ex40 - DMD_030140 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_69i c.? pathogenic (recessive) r.? p.? g.? - dup ex4-6 ex61-69 - DMD_030469 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_63i c.? pathogenic (recessive) r.? p.? g.? - dup ex45-55 ex63 - DMD_034563 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_51i c.? pathogenic (recessive) r.? p.? g.? - del ex13 and 46-51 - DMD_031351 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 47i_51i c.? pathogenic (recessive) r.? p.? g.? - del ex48, 49, 51 - DMD_034851 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 16i_46i c.? pathogenic (recessive) r.? p.? g.? - del ex17-20 / 37-40 / 45-46 - DMD_031746 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_43i c.? pathogenic (recessive) r.? p.? g.? - del ex1-29 / dup ex37-43 - DMD_030143 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 39i_53i c.? pathogenic (recessive) r.? p.? g.? - dup ex40 / del ex45-53 - DMD_034053 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 51i_79_ c.? pathogenic (recessive) r.? p.? g.? - dup ex52-60 / 68-79 - DMD_035280 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 55i_71i c.? pathogenic (recessive) r.? p.? g.? - dup ex56-60 / 62-71 - DMD_035671 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_43i c.? pathogenic (recessive) r.? p.? g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 0i_43i c.? pathogenic (recessive) r.? p.? g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 9i_44i c.? pathogenic (recessive) r.? p.? g.? - dup ex10-44 - DMD_031044 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. - c.? pathogenic (recessive) r.? p.? g.? - del 8-10,21-26 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 3-10,21-29 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 2-4; del 64 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 45; del 8-10,21-30,41 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? g.? - 2518G>T (Gln840*) - DMD_000000 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 67 c.? pathogenic (recessive) r.(?) p.? g.? - 9669C>T (Arg3223*Ter) - DMD_000000 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - 0 - Johan den Dunnen
+/. 21 c.? pathogenic (recessive) r.(?) p.? g.? - 2664C>T (Gln888Ter) - DMD_000000 - PubMed: Yang 2019 - - De novo - 1/100 cases BMD/DMD - 0 - Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.(Ala765Cysfs*8) g.? g.? 2292dup7 - USP9X_000005 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Monica Traverso
+/. - c.? pathogenic (recessive) - - g.? g.? - - DMD_000000 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 - - - Germline - - - 0 - Lakshmi Bremadesam
-/. _0 c.-202238G>A benign r.(?) p.(=) g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - 0 - Johan den Dunnen
+/. _0_9i c.-244_(960+1_961-1)[0] pathogenic (recessive) r.0? p.0? g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del - - DMD_050009 deletion includes DXS1242 (DYSII) - - - Germline - - - 0 - Mireille Claustres
-?/. _0 c.-128499_-128498del likely benign r.(?) p.(=) g.33357927_33357928del g.33339810_33339811del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - 0 - Kevin Flanigan
-/. _0 c.-128410A>C benign r.(=) p.(=) g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - 0 - Kevin Flanigan
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c Jorge ESHG2006 P1191 - - Germline - - - 0 - Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - Ieke Ginjaar
?/. _0_1i c.-244_(-182_59)[2] VUS r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup c.-244_(31+1_32-1)dup - DMD_020001 non-contiguous duplication duplication brain/muscle promoter and exons 45-55 - - - Germline - - - 0 - Jiang Wenting
+/. _0_1i c.-244_(31+1_32-1)[0] pathogenic (recessive) r.0? p.0? g.(33038318_33229398)_(33357726_?)del g.(33020201_33211281)_(33339609_?)del - - DMD_050001 deletion includes Dp427c - - - Germline - - - 0 - Tanja Lalic
+/. _0_1i c.-244_(31+29960_31+30066)[0] pathogenic (recessive) r.0 p.0 g.(33199333_33199439)_(33358795_38181471)del g.(33181216_33181322)_(33340678_38163354)del hg18 g.(33109254_33109360)_(33268716_38091392)del - DMD_038001 159.4 Kb deletion PubMed: del Gaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 g.(33038318_33146179)_(33357726_?)del - - - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_2i c.-244_(93+1_94-1)[0] pathogenic (recessive) r.0 p.0 g.(32867938_33038255)_(33357726_?)del g.(32849821_33020138)_(33339609_?)del Dp427c,Dp427p - DMD_050002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
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