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.

18563 entries on 186 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     
+/. 60i_79_ c.(8968_9118)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) g.(?_31138512)_(31366718_31462714)del g.(?_31120395)_(31348601_31444597)del ex61ex79del, c.9085-?_*2691del  - DMD_016179 - - - - Germline/De novo (untested) - - - 0 - Milena Cau
+/. 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)[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_16i c.-244(_-182)_(1852_2085)del 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_2i c.-244(_-182)_(59_128)del 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)del 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 - - - - Germline/De novo (untested) - - - 0 - Alessandra Ferlini
+/. 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)[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
+/. _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_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)[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_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_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 - - - - Germline/De novo (untested) - - - 0 - Milena Cau
+/. 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
+/. _1_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
+/. 2i_8i c.? pathogenic (recessive) r.? p.? g.? - del ex3, 6, 8 - DMD_030308 - 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
+/. _1_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
+/. _1_43i c.? pathogenic (recessive) r.? p.? g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. _1_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 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 3-10,21-29 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 2-4; del 64 - USP9X_000005 - 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 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 56 c.? pathogenic (recessive) r.(?) p.? g.? - 8475G>A (Trp2915*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? g.? - 4567G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 17 c.? pathogenic (recessive) r.(?) p.? g.? - 2006T>C (Val669*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.? pathogenic (recessive) r.(?) p.? g.? - 1938T>A (Cys646*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.? pathogenic (recessive) r.(?) p.? g.? - 1339C>T (Gly447*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? g.? - c.984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? g.? - c.2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? g.? - 541C>T (Gln181*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? g.? - 3061C>T (Gln1021*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.? pathogenic (recessive) r.(?) p.? g.? - 77A>G (Asn26*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? g.? - 3028G>T (Glu1010*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? g.? - 559C>T (Gln187*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23 c.? pathogenic (recessive) r.(?) p.? g.? - 3034delC (Ser1012Leufs*32) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? g.? - 2518G>T (Gln840*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 35 c.? pathogenic (recessive) r.(?) p.? g.? - 4561G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? g.? - 2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? g.? - 984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? g.? - 4587del (Lys1529Asnfs*13) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
-/. _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_(859_988)[0] pathogenic (recessive) r.0? p.0? g.(32663242_32716088)_(33357493_?)del g.(32645125_32697971)_(33339376_?)del c.-244_(960+1_961-1)del - DMD_010009 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)[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 - Tanja Lalic
?/. _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+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_028001 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_(59_128)[0] pathogenic (recessive) r.0 p.0 g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del Dp427c,Dp427p; c.-244_(93+1_94-1)del - DMD_010002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_7i c.-244_(558_831+11)[0] pathogenic (recessive) r.0 p.? g.(32717218_32827701)_(33357493_?)del g.(32699101_32809584)_(33339376_?)del Dp427c,Dp427p; c.-244_(649+1_650-1)del - DMD_010007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_9i c.-244_(859_988)[2] pathogenic (recessive) r.(?) p.? g.(32663242_32716088)_(33357493_?)dup g.(32645125_32697971)_(33339376_?)dup ex1ex9dup; c.-244_(960+1_961-1)dup - DMD_020009 - - - - Unknown - - - 0 - Alessandra Ferlini
+/+ _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33357493_?)del g.(32501851_32518074)_(33339376_?)del c.-244_(2292+1_2293-1)del - DMD_010018 breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c PubMed: Brown 1996 - - Unknown - - - 0 - Johan den Dunnen
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33357493_?)del g.(32501851_32518074)_(33339376_?)del c.-244_(2292+1_2293-1)del - DMD_010018 deletion includes Dp427c PubMed: Stockley 2007 - - Germline - - - 0 - Peter Ray
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33357493_?)del g.(32501851_32518074)_(33339376_?)del del1b-18; c.-244_(2292+1_2293-1)del - DMD_010018 - PubMed: Kalman 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33357493_?)del g.(32501851_32518074)_(33339376_?)del c.-244_(2292+1_2293-1)del - DMD_010018 centrimeric breakpoint close to marker BBJ, deletion includes Dp427c PubMed: Brown - - Germline - - - 0 - Johan den Dunnen
+/. _0_30i c.-244_(4194_4312)[0] pathogenic (recessive) r.0 p.0 g.(32408220_32429908)_(33357493_?)del g.(32390103_32411791)_(33339376_?)del c.-244_(4233+1_4234-1)del - DMD_010030 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _0_31i c.-244_(4344+1_4345-1)[0] pathogenic (recessive) 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 - - - 0 - Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.0 p.0 g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.0 p.0 g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c - - - Germline - - - 0 - Ayfer Ulgenalp
+?/. _0_44i c.-244_(6382_6538)[0] likely pathogenic r.0? p.0? g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 - - - - Germline - - - 0 - Martin Cruz
+/. _0_45i c.-244_(6538_6706)[0] pathogenic (recessive) r.0? p.0? g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - 0 - Alessandra Ferlini
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0 p.0 g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/+ _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK PubMed: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
+/+ _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 whole gene deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del Dp427p; Dp427c; c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 g.(?_31132395)_(33358795_?)del g.(?_31114278)_(33340678_?)del hg18 g.(?_31042316)_(33268716_?)del - DMD_018052 >2.3 Mb whole gene deletion PubMed: del Gaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 g.(?_31132395)_(33358795_?)del g.(?_31114278)_(33340678_?)del hg18 g.(?_31042316)_(33268716_?)del - DMD_018052 >2.3 Mb whole gene deletion PubMed: del Gaudio 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 0 c.-128249G>T benign r.(=) p.(=) g.33357678C>A g.33339561C>A - - DMD_001386 - PubMed: Flanigan 2009 - - Germline - 0.97 - 0 - Kevin Flanigan
-/. 0 c.-128163A>G benign r.(?) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 36/692 - 0 - Kevin Flanigan
-/. 0 c.-128163A>G benign r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 0.11 - 0 - Laurence Michel-Calemard
-/. 0 c.-128163A>G benign r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 2/28 - 0 - Franziska Joncourt
-/. _1 c.-127831del benign r.(=) p.(=) g.33357260del g.33339143del -127831delA - DMD_001387 - - - - Germline - 0.01 - 0 - Kevin Flanigan
-/. _1 c.-127810T>C benign r.(=) p.(=) g.33357239A>G g.33339122A>G - - DMD_001388 - - - - Germline - 0.01 - 0 - Kevin Flanigan
?/. 0i_7i c.-244(_-182)_(558_831+11)[2] VUS r.? p.? g.(32717218_32827701)_(33229611_33357493)dup g.(32699101_32809584)_(33211494_33339376)dup c.-244_(649+1_650-1)dup - DMD_020107 extra copy exons 1m-7 DMD gene email request - - Germline - - - 0 - Johan den Dunnen
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del ex1ex2del; c.-244_(93+1_94-1)del - DMD_010102 - - - - Unknown - - - 0 - Alessandra Ferlini
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