Full data view for 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.

16912 entries on 170 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.? Maternal (confirmed) g.32472950_32472951inv - 3433-2_ 3433-1invAG - DMD_003821 - PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD Pat17 PubMed: Wang 2019 carrier mother M - China Han - 0 - - 1 Johan den Dunnen
+/. _1_40i c.? - r.? p.? Maternal (inferred) g.? - del ex1-29 ex40 - DMD_030140 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28610567-Pat1 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 3i_69i c.? - r.? p.? Maternal (inferred) g.? - dup ex4-6 ex61-69 - DMD_030469 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28610567-Pat132 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 44i_63i c.? - r.? p.? Maternal (inferred) g.? - dup ex45-55 ex63 - DMD_034563 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28610567-Pat93 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 12i_51i c.? - r.? p.? Maternal (inferred) g.? - del ex13 and 46-51 - DMD_031351 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2i_8i c.? - r.? p.? Maternal (inferred) g.? - del ex3, 6, 8 - DMD_030308 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 47i_51i c.? - r.? p.? Maternal (inferred) g.? - del ex48, 49, 51 - DMD_034851 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 16i_46i c.? - r.? p.? Maternal (inferred) g.? - del ex17-20 / 37-40 / 45-46 - DMD_031746 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. _1_43i c.? - r.? p.? Maternal (inferred) g.? - del ex1-29 / dup ex37-43 - DMD_030143 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 39i_53i c.? - r.? p.? Maternal (inferred) g.? - dup ex40 / del ex45-53 - DMD_034053 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 51i_79_ c.? - r.? p.? Maternal (inferred) g.? - dup ex52-60 / 68-79 - DMD_035280 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 55i_71i c.? - r.? p.? Maternal (inferred) g.? - dup ex56-60 / 62-71 - DMD_035671 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. _1_43i c.? - r.? p.? Maternal (inferred) g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD ? - - M - Mexico - - 0 - no steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. _1_43i c.? - r.? p.? Maternal (inferred) g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD ? - - M - Mexico - - 0 - no steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 9i_44i c.? - r.? p.? Maternal (inferred) g.? - dup ex10-44 - DMD_031044 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD ? - - M - Mexico - - 0 - - 1 Luz Berenice Lopez-Hernandez
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - del 8-10,21-26 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat20 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - dup 3-10,21-29 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat24 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - dup 2-4; del 64 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat25 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (dominant) r.? p.? Unknown g.? - dup 45; del 8-10,21-30,41 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat26 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. 56 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 8475G>A (Trp2915*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat27 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 4567G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat61 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 17 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 2006T>C (Val669*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - BMD/DMD Pat71 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 16 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1938T>A (Cys646*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat74 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 12 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1339C>T (Gly447*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat75 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat86 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - c.984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat107 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - c.2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat109 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - 541C>T (Gln181*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - DNA SEQ - - DMD Pat118 PubMed: Ma 2018 mother not carrier M - China - - 0 - - 1 Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 3061C>T (Gln1021*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat120 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 77A>G (Asn26*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat123 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 3028G>T (Glu1010*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - BMD/DMD Pat124 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat130 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 559C>T (Gln187*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat143 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 23 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 3034delC (Ser1012Leufs*32) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat174 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - DNA SEQ - - DMD Pat175 PubMed: Ma 2018 mother not carrier M - China - - 0 - - 1 Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 2518G>T (Gln840*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BMD/DMD Pat180 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat185 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 35 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 4561G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat191 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat193 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat195 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 4587del (Lys1529Asnfs*13) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat197 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
-/. 0-Dp427c c.-202238G>A - r.(?) p.(=) Parent #1 g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - 0 - - - - - - - - - - - - - - - - - - -
+/. _0_9i c.(?_-129319)_(960+1_961-1)del - r.0? p.0? Unknown g.(32663270_32715986)_(33358748_?)del - - - DMD_010009 deletion includes DXS1242 (DYSII) - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - France - - 0 - - 1 Mireille Claustres
-?/. 0-Dp427c c.-128499_-128498del - r.(?) p.(=) Parent #1 g.33357927_33357928del g.33339810_33339811del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - 0 - DNA PCR, SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - United States - - 0 - - 1 Kevin Flanigan
-/. 0-Dp427c c.-128410A>C - r.(=) p.(=) Parent #1 g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - 0 - DNA SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - - - - 0 - - 67 Kevin Flanigan
?/. _0_1 c.(?_-128297)_(-127947_-1)del - r.? p.? Unknown g.(33229430_33357376)_(33357726_?)del - - - DMD_010000 deletion Dp427c (brain) promoter only - - - Unknown - - - 0 - DNA PCR - - DMD - - - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0? Unknown g.(33038318_33229398)_(33357726_?)del - - - DMD_010001 deletion includes Dp427c Jorge ESHG2006 P1191 - - Germline - - - 0 - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - 0 - - 2 Johan den Dunnen
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.? Maternal (inferred) g.(33038318_33229398)_(33357726_?)del - chrX:g.(33109254_33109360)_(33268716_38091392)del - DMD_010001 159.4 Kb deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0? Parent #1 g.(33038318_33229398)_(33357726_?)del - - - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0? Parent #1 g.(33038318_33229398)_(33357726_?)del - - - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0? Unknown g.(33038318_33229398)_(33357726_?)del - - - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - Serbia Montenegro - 0 - - 1 Tanja Lalic
?/. _0_1i c.(?_-128297)_(31+1_32-1)dup - r.? p.? Maternal (inferred) g.(33038318_33229398)_(33357726_?)dup - - - DMD_020001 non-contiguous duplication duplication brain/muscle promoter and exons 45-55 - - - Germline - - - 0 - DNA MLPA - - DMD - - - M no China Han - 0 - - 1 Jiang Wenting
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - - - DMD_040258 deletion incl. Dp427c, Dp427p - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 1 Ayfer Ulgenalp
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - - - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_2_ c.[(?_-128297)_(-127947_-1)dup;(31+1_32-1)_(93+1_94-1)dup] - r.? p.? Maternal (inferred) 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 - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2612 database - M - France - - 0 - - 1 Johan den Dunnen
+/. _0_2i c.(?_-128297)_(93+1_94-1)del - r.0 p.0 Unknown g.(32867938_33038255)_(33357726_?)del - Dp427c,Dp427p - DMD_040323 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] - r.(?) p.? Parent #1 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 - - - 0 - DNA arrayCGH, MLPA - - MD - PubMed: delGaudio 2008 carrier female F - United States - - 0 - - 1 Johan den Dunnen
+/. _0_7i c.(?_-128297)_(649+1_650-1)del - r.0 p.? Unknown g.(32717411_32827609)_(33357726_?)del - Dp427c,Dp427p - DMD_010007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] - r.? p.? Maternal (confirmed) g.? - - - DMD_030009 erroneously reported as non-contiguous deletion of exons Dp427c-11 excl. exon 2 (correct is duplication exons Dp427c-9 excl. exon 2) PubMed: Schwartz 2004 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - 0 - - 2 Marianne Schwartz
+/. _1_9i c.(?_-128297)_(960+1_961-1)dup - r.(?) p.? Parent #1 g.(32663270_32715986)_(33357726_?)dup - ex1ex9dup - DMD_020109 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/+ _1_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del - - - DMD_010018 breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c PubMed: Brown 1996 - - Unknown - - - 0 - DNA Southern, PCR - - CGDX, MCLDS - PubMed: Brown 1996 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del - - - DMD_010018 deletion includes Dp427c PubMed: Stockley 2007 - - Germline - - - 0 - DNA PCRq - - DMD - PubMed: Stockley 2007 - M - Canada - - 0 - - 1 Peter Ray
+/. _1_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0? Parent #1 g.(32519960_32536124)_(33357726_?)del - del1b-18 - DMD_010018 - PubMed: Kalman 2011 - - Germline - - - 0 - DNA arraySNP, MLPA - - DMD - PubMed: Kalman 2011 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del - - - DMD_010018 centrimeric breakpoint close to marker BBJ, deletion includes Dp427c PubMed: Brown - - Germline - - - 0 - DNA Southern, PCR - - CGD, DMD, MCLDS - PubMed: Brown - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_30i c.(?_-128297)_(4233+1_4234-1)del - r.0 p.0 Parent #1 g.(32408299_32429868)_(33357726_?)del - - - DMD_010030 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. _0_31i c.(?_-128297)_(4344+1_4345-1)del - r.0? p.? Maternal (confirmed) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - 0 - DNA arrayCGH - - CGD 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - 0 - - 1 Johan den Dunnen
+/. _0_44i c.(?_-128297)_(6438+1_6439-1)del - r.0 p.0 Parent #1 g.(31986632_32235032)_(33357726_?)del - - - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. _0_44i c.(?_-128297)_(6438+1_6439-1)del - r.0 p.0 Unknown g.(31986632_32235032)_(33357726_?)del - - - DMD_010044 deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 2 Ayfer Ulgenalp
+/. _1_45i c.(?_-128297)_(6614+1_6615-1)del - r.0? p.0? Parent #1 g.(31950345_31986455)_(33357726_?)del - ex1ex45del - DMD_010145 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Romania - - 0 - - 1 Alessandra Ferlini
+/. _0_47i c.(?_-128297)_(6912+1_6913-1)del - r.0 p.0 Parent #1 g.(31893491_31947712)_(33357726_?)del - - - DMD_010047 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/+ _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Unknown g.(29686622_29935580)_(33357726_?)del - - - DMD_040054 deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK PubMed: Zhang 2004 - - Unknown - - - 0 - DNA PCR - - AHC, DMD, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - 0 - - 1 Johan den Dunnen
+/+ _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Unknown g.(25034000_28807460)_(33357726_?)del - - - DMD_040054 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Maternal (inferred) g.(?_31140035)_(33357726_?)del - chrX:g.(?_31042316)_(33268716_?)del - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Parent #1 g.(?_31140035)_(33357726_?)del - chrX:g.(?_31042316)_(33268716_?)del - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 carrier female F - United States - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0? p.0? Unknown g.(?_31140035)_(33357726_?)del - - - DMD_010079 whole gene deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, Southern - - DMD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Parent #1 g.(?_31140035)_(33357726_?)del - - - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Parent #1 g.(?_31140035)_(33357726_?)del - - - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Unknown g.(?_31140035)_(33357726_?)del - Dp427p; Dp427c - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0 Unknown g.(?_31140035)_(33357726_?)del - - - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
-/. 0-Dp427c c.-128249G>T - r.(=) p.(=) Parent #1 g.33357678C>A g.33339561C>A - - DMD_001386 - PubMed: Flanigan 2009 - - Germline - 0.97 - 0 - DNA SEQ - - DMD - PubMed: Flanigan 2009 - - - - - - 0 - - 1 Kevin Flanigan
-/. 0-Dp427c c.-128163A>G - r.(?) p.(=) Parent #1 g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 36/692 - 0 - DNA PCR, SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - United States - - 0 - - 36 Kevin Flanigan
-/. 0-Dp427c c.-128163A>G - r.(=) p.(=) Parent #1 g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 0.11 - 0 - DNA SEQ - - DMD - - - - - United States - - 0 - - 1 Laurence Michel-Calemard
-/. 0-Dp427c c.-128163A>G - r.(=) p.(=) Parent #1 g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 2/28 - 0 - DNA SSCA - - DMD - - - - - Switzerland - - 0 - - 2 Franziska Joncourt
-/. 0-Dp427c c.-127831del - r.(=) p.(=) Parent #1 g.33357260del g.33339143del -127831delA - DMD_001387 - - - - Germline - 0.01 - 0 - DNA SEQ - - DMD - - - - - - - - 0 - - 1 Kevin Flanigan
-/. 0-Dp427c c.-127810T>C - r.(=) p.(=) Parent #1 g.33357239A>G g.33339122A>G - - DMD_001388 - - - - Germline - 0.01 - 0 - DNA SEQ - - DMD - - - - - - - - 0 - - 1 Kevin Flanigan
?/. 1ci_7i c.(-127946_-244)_(649+1_650-1)dup - r.? p.? Unknown g.(32717411_32827609)_(33229673_33357375)dup - - - DMD_020007 extra copy exons 1m-7 DMD gene email request - - Germline - - - 0 - DNA MAPH - - Healthy/Control - email request - F - United States - - 0 - - 1 Johan den Dunnen
+/. 0_2i c.(-127947_-1)_(93+1_94-1)del - r.? p.? Parent #1 g.(32867938_33038255)_(33229430_33357376)del - ex1ex2del - DMD_010002 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 0_4i c.(-127947_-1)_(264+1_265-1)del - r.0? p.0? Unknown g.(32841505_32862899)_(33229430_33357376)del - - - DMD_010004 Dp427c present - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 1 Ayfer Ulgenalp
+/. 0_13i c.(-127947_-1)_(1602+1_1603-1)del - r.? p.? Parent #1 g.(32591964_32613873)_(33229430_33357376)del - ex1ex13del - DMD_010013 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
-/. 0-Dp427m c.-46953C>G - r.(?) p.(=) Parent #1 g.33276382G>C g.33258265G>C - - DMD_000932 - Affymetrix-2967109 - - Germline - 0.46 - 0 - - - - - - - - - - - - - - - - - - -
?/. _1_ c.(?_-25798)_(7+108860_?)x3 - r.? p.? Unknown 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 - - - 0 - DNA arraySNP - - - - - - F - Netherlands - - 0 - - 1 Johan den Dunnen
-/. 0-Dp427m c.-25482G>C - r.(?) p.(=) Parent #1 g.33254911C>G g.33236794C>G - - DMD_000931 - Affymetrix-2967095 - - Germline - 0.04 - 0 - - - - - - - - - - - - - - - - - - -
+/. 0-Dp427m c.-13496_31+1783del - r.0? p.0? Maternal (confirmed) g.33227616_33242925del g.33209499_33224808del - - DMD_001358 15.3 kb deletion PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, - - Germline - - - 0 - DNA PCR, SEQ - - BMD - PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, family with 4 affected males M - Italy - - 0 - - 4 Johan den Dunnen
+/. 1 c.-1443_31+4726delinsTTTTTAAAATTA - r.0? p.0? Parent #1 g.33224673_33230872delinsTAATTTTAAAAA g.33206556_33212755delinsTAATTTTAAAAA -1443_31+4726delins12 - DMD_001359 6.2 kb deletion PubMed: Bastianutto 2002, {GenBankAF373844} - - Germline - - - 0 - DNA PCR, SEQ - - CMD - PubMed: Bastianutto 2002, {GenBankAF373844} - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/. 1 c.-807A>T - r.(=) p.(=) Parent #1 g.33230236T>A g.33212119T>A - - DMD_001389 - - - - Germline - 0.01 - 0 - DNA SEQ - - DMD - - - - - - - - 0 - - 1 Kevin Flanigan
+/. 1 c.-648_0dup - r.(?) p.(Met1?) Maternal (inferred) g.33229430_33230077dup g.33211313_33211960dup - - DMD_002085 de novo, in patient UMD 366 database - - De novo - - - 0 - DNA SEQ - - DMD - UMD 366 database - M - (France) - - 0 - - 1 Johan den Dunnen
-/. 0-Dp427m c.-419A>G - r.(?) p.(=) Parent #1 g.33229848T>C g.33211731T>C -176A>G - DMD_001008 - PubMed: Tuffery 1993 - - Germline - 1/13 - 0 - DNA SSCA - - DMD - PubMed: Tuffery 1993 - M - France - - 0 - - 1 Mireille Claustres
?/. 5'UTR c.-342G>A VUS r.(?) p.(=) Parent #1 g.33229771C>T - - - DMD_046369 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
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