Leiden Muscular Dystrophy pages©

Frequently reported DMD gene sequence variants

(last modified February, 2007)


c.94-9dupT

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
394-9dupT-0--11/85normalTufferyDNASSCADMD_01021France
394-9dupT-0--15/105normalPriorDNASSCADMD_01021USA
394-9dupT-0--0.33normalMuntoniDNASSCADMD_01021Italia
394-9dupT-0--4/18normalDubourgDNAHDDMD_01021France
394-9dupT-0--5/80normalBaigetDNASSCADMD_01021Spain
394-9dupT-0---normalEraslanDNASSCADMD_01021Turkey
394-9dupT-0--0.09normalWaddle, ESHG'00#491DBAHDfDMD_01021UK
394-9dupT-0---normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01021USA
394-9dupT-0--1/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_01021USA
394-9dupT-0--4/24normalDB: Leiden-KneppersDNASEQDMD_01021Nederland
394-9dupT - 0(-)(-)0.10normalDB: Salt Lake CityDNASEQDMD_01021USA
394-9dupT - 0(-)(-)0/144, once DMD patientnormalMuscarellaDNADHPLCDMD_01021Italia

c.832-18_832-17delinsGA

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
9832-18_832-17delinsGA 0(?)-2/152normalDB: LeidenDNADGGEDMD_00325Nederland
9832-18_832-17delinsGA 0(?)-1/8normalBennetDNASEQDMD_00325USA
9832-18_832-17delinsGA 0(?)- normalDB: NANCYDNADEQDMD_00325France
9832-18_832-17delinsGA 0(?)- normalWaddle, ESHG'00#491DNAHDfDMD_00325UK

c.837G>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
9837G>A 0(?)-12/150normalOrtiz-LopezDNASSCADMD_01047USA
9837G>A 0(?)-1/80normalBaigetDNASSCADMD_01047Spain
9837G>A 0(?)-2/15normalDolinskyDNADGGEDMD_01047Brazil
9837G>A 0(?)-0.04normalWaddle, ESHG'00#491DNAHDfDMD_01047UK
9837G>A 0837g>a-4/38normalDB: HamedRNASEQDMD_01047USA
9837G>A   0(-)(-)0.02normalDB: Salt Lake CityDNASEQDMD_01047USA

c.1483-72T>C

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
131483-72T>C+DdeI0--4/68normalTufferyDNASSCADMD_01049France
131483-72T>C+DdeI0--8/68normalLenkDNASSCADMD_01049Deutschland
131483-72T>C+DdeI0--0.09normalZietkiewiczDNASSCADMD_01049Caucasian
131483-72T>C+DdeI0--0.10normalZietkiewiczDNASSCADMD_01049Oriental
131483-72T>C+DdeI0--19/80normalBaigetDNASSCADMD_01049Spain
131483-72T>C+DdeI0--12/56normalEraslanDNASSCADMD_01049Turkey
131483-72T>C+DdeI0--1/8normalBennettDNADHPLCDMD_01049USA
131483-72T>C+DdeI0-- Richards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01049USA
131483-72T>C +DdeI 0(-)(-)0.08normalDB: Salt Lake CityDNASEQDMD_01049USA

c.1483-67A>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
131483-67A>T 0--6/68normalTufferyDNASSCADMD_01037France
131483-67A>T 0--5/68normalLenkDNASSCADMD_01037Deutschland
131483-67A>T 0--0.03normalZietkiewiczDNASSCADMD_01037Caucasian
131483-67A>T 0--0.10normalZietkiewiczDNASSCADMD_01037Oriental
131483-67A>T 0--15/80normalBaigetDNASSCADMD_01037Spain
131483-67A>T 0--2/56normalEraslanDNASSCADMD_01037Turkey
131483-67A>T 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01037USA
131483-67A>T 0(-)(-)0.04normalDB: Salt Lake CityDNASEQDMD_01037USA

c.1635A>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
141635A>G 0--10/186normalHofstraDNADGGEDMD_00319Nederland
141635A>G 0--16/93normalMendellDNASSCADMD_00319USA
141635A>G 0--2/8normalBennettDNADHPLCDMD_00319USA
141635A>G 0---normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00319USA
141635A>G 0--1/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_00319USA
141635A>G 01635a>g-1/38normalDB: HamedRNASEQDMD_00319USA
141635A>G 0(-)(-)0.12normalDB: Salt Lake CityDNASEQDMD_00319USA
141635A>G - 0(-)(-)once DMD patientnormalMuscarellaDNADHPLCDMD_00319Italia

c.1704+51T>C

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
141704+51T>C 0(-)(-)2/8normalBennettDNADHPLCDMD_00322USA
141704+51T>C 0(-)(-) normalRichards (2003) Am.J.Hum.Genet. 73: 566, A2335DNADHPLCDMD_00322USA
141704+51T>C 0(-)(-)4/21normalDB: Leiden-KneppersDNASEQDMD_00322Nederland
141704+51T>C 0(-)(-)0.11normalDB: Salt Lake CityDNASEQDMD_00322USA

c.1993-37T>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
171993-37T>G-TaqI, +MaeI0--13/60normalKilimannDNACMCDMD_00743USA
171993-37G>T-TaqI, +MaeI0--30/110normalPriorDNAHDDMD_00743USA
171993-37G>T-TaqI, +MaeI0--11/35normalTufferyDNASSCADMD_00743France
171993-37G>T-TaqI, +MaeI0--18/57normalNigroDNASSCADMD_00743Italia
171993-37G>T-TaqI, +MaeI0--0.38normalZietkiewiczDNASSCADMD_00743Caucasian
171993-37G>T-TaqI, +MaeI0--0.03normalZietkiewiczDNASSCADMD_00743Oriental
171993-37G>T-TaqI, +MaeI0--42/80normalBaigetDNASSCADMD_00743Spain
171993-37G>T-TaqI, +MaeI0--25/56normalEraslanDNASSCADMD_00743Turkey
171993-37G>T-TaqI, +MaeI0--42/286normalHofstra, DB: LeidenDNADGGEDMD_00743Nederland
171993-37G>T-TaqI, +MaeI0--11/24normalDB: Leiden-KneppersDNASEQDMD_00743Nederland
171993-37G>T-TaqI, +MaeI0--5/12normalBaranziniDNASSCADMD_00743Argentina
171993-37G>T-TaqI, +MaeI0--0.37normalSitnikDNASSCADMD_00743Brazil
171993-37G>T-TaqI, +MaeI0--6/18normalDubourgDNAHD, SSCADMD_00743France
171993-37G>T-TaqI, +MaeI0--1/15normalDolinskyDNADGGEDMD_00743Brasil
171993-37G>T-TaqI, +MaeI0--2/50normalChaturvediDNASSCADMD_00743India
171993-37G>T 0(-)p0.31normalDB: Salt Lake CityDNASEQDMD_00743USA

c.2168+13T>C

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
172168+13T>C 0--9/12normalBaranziniDNASSCADMD_01025Argentina
172168+13T>C 0--246/284normalHofstra, DB: LeidenDNADGGEDMD_01025Nederland
172168+13T>C 0--8/24normalDB: Leiden-KneppersDNASEQDMD_01025Nederland
172168+13T>C 0--12/15normalDolinskyDNADGGEDMD_01025Brazil
172168+13T>C 0--7/8normalBennettDNADHPLCDMD_01025USA
172168+13T>C 0---normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01025USA
172168+13T>C 0--2/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_01025USA
172168+13T>C 0(-) 0.26normalDB: Salt Lake CityDNASEQDMD_01025USA
172168+13T>C 0(-) 1/6normalShenDNADHPLCDMD_01025China

c.2645G>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
212645G>A+BglII03021g>aGly882Asp1/7normalRobertsRNACMCDMD_00761UK
212645G>A+BglII0(=)Gly882Asp50/278normalHofstra, DB: LeidenDNADGGEDMD_00761Nederland
212645G>A+BglII0(=)Gly882Asp12/30normalDB: Leiden-KneppersDNASEQDMD_00761Nederland
212645G>A+BglII0(=)Gly882Asp1/8normalBennettDNASEQDMD_00761USA
212645G>A+BglII0(=)Gly882Asp11/15 normalDB: DolinskyDNADGGEDMD_00761Brazil
212645G>A+BglII0(=)Gly882Asp-normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00761USA
212645G>A +BglII 0(=)Gly882Asp2/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_00761USA
212645G>A +BglII 02645g>aGly882Asp1/38normalDB: HamedRNASEQDMD_00761USA
212645G>A +BglII 0(=)Gly882Asp0.38normalDB: Salt Lake CityDNASEQDMD_00761USA

c.3021G>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
233021G>A-TaqI03021g>a-1/7normalRobertsRNACMCDMD_01011UK
233021G>A-TaqI0(?)-2/132normalHofstraDNADGGEDMD_01011Nederland
233021G>A-TaqI0(?)-1/8normalBennettDNASEQDMD_01011USA
233021G>A-TaqI0(?)--normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01011USA
233021G>A-TaqI03021g>a-4/38normalDB: HamedRNASEQDMD_01011USA
233021G>A  -TaqI 0(=)-0.02normalDB: Salt Lake CityDNASEQDMD_01011USA

c.3603+3(A)12-14

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
263603+15delA 0---normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00945USA
263603+15delA   0--2/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_00945USA
263603+15dupA 0-- normalLeidenRNART-PCR+PTT, SEQDMD_00945once in DMD patient Nederland
263603+15dupA 0--32/93normalMendellDNASSCADMD_00945USA
263603+15dupA 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00945USA

c.3734C>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
273734C>T 03734c>uThr1245Ile1/7normalRobertsRNACMCDMD_01002once UK
273734C>T 03734c>uThr1245Ile1/7normalHegde, Am.J.Hum.Genet. 71, S319RNADHPLCDMD_01002once American patient
273734C>T 0(?)Thr1245Ile-normalPrior (2003) Am.J.Hum.Genet. 73, 412, A1415DNADHPLCDMD_01002USA
273734C>T 03734c>uThr1245Ile10/38normalDB: HamedRNASEQDMD_01002USA
273734C>T   0-Thr1245Ile0.04normalDB: Salt Lake CityDNASEQDMD_01002USA

c.4234-13A>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
314234-13A>G 0--~0.02 (reported twice)normalLYONRNART-PCR, SEQDMD_00264found twice France (freq ~0.02)
314234-13A>G 0--21/284normalHofstra, DB: LeidenDNADGGEDMD_00264Nederland
314234-13A>G 0--2/34normalDB: Leiden-KneppersDNASEQDMD_00264Nederland
314234-13A>G 0--8/89normalMendellDNASSCADMD_00264USA
314234-13A>G 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00264USA
314234-13A>G   0--1/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_00264USA
314234-13A>G   0--0.05normalDB: Salt Lake CityDNASEQDMD_00264USA

c.5234G>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
375234G>A-SacII0(=)Arg1745His41/99normalRininslandDNACMCDMD_01039Deutschland
375234G>A-SacII05234g>aArg1745His3/7normalRobertsRNASEQDMD_01039UK
375234G>A-SacII0(=)Arg1745His7/8normalBennettDNASEQ, DHPLCDMD_01039USA
375234G>A-SacII0(=)Arg1745His normalPrior (2003) Am.J.Hum.Genet. 73, 412, A1415DNADHPLCDMD_01039USA
375234G>A-SacII0(=)Arg1745His normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01039USA
375234G>A -SacII 0(=)Arg1745His3/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_01039USA
375234G>A -SacII 05234g>aArg1745His14/38normalDB: Leiden-KneppersRNASEQDMD_01039Nederland
375234G>A -SacII 05234g>aArg1745His15/38normalDB: HamedRNASEQDMD_01039USA
375234G>A -SacII 0(=)Arg1745His0.52normalDB: Salt Lake CityDNASEQDMD_01039USA
375234G>A -SacII 0(-)Arg1745His1/6normalShenDNADHPLCDMD_01039China
375234G>A -SacII 0(-)(-)once DMD patientnormalMuscarellaDNADHPLCDMD_01039Italia

c.6118-63A>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
436118-63A>T 0--oncenormalSaadDNADSCADMD_01005once Italia
436118-63A>T 0--oncenormalGroningenDNASSCADMD_01005Nederland
436118-63A>T 0--1/8normalBennettDNASEQ, DHPLCDMD_01005USA
436118-63A>T   0--0.01normalDB: Salt Lake CityDNASEQDMD_01005USA

c.6118-63_6118-62dupAT

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
436118-63_6118-62dup-0--1/27normalBaranziniDNASSCADMD_01042Argentina
436118-63_6118-62dup-0--1/80normalBaigetDNASSCADMD_01042Spain
436118-63_6118-62dup-0--8/56normalEraslanDNASSCADMD_01042Turkey
43c.6118-75(AT)7_9 - 0--0.01normalDB: Salt Lake CityDNASEQDMD_01042USA

c.6439-143G>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
456439-143G>A-0--13/60normalKilimannDNACMCDMD_01043USA
456439-143G>A-0--27/104normalPriorDNAHDDMD_01043USA
456439-143G>A-0--42/61normalTufferyDNASSCADMD_01043France
456439-143G>A-0--14/51normalNigroDNASSCADMD_01043Italia
456439-143G>A-0--0.33normalZietkiewiczDNASSCADMD_01043Caucasian
456439-143G>A-0--0.55normalZietkiewiczDNASSCADMD_01043Oriental
456439-143G>A-0--25/80normalBarcelonaDNASSCADMD_01043Spain
456439-143G>A-0--5/12normalBaranziniDNASSCADMD_01043Argentina
456439-143G>A-0--0.31normalSitnikDNASSCADMD_01043Brazil
456439-143G>A-0--3/18normalDubourgDNAHD, SSCADMD_01043France
456439-143G>A - 0--0.26normalDB: Salt Lake CityDNASEQDMD_01043USA

c.6463C>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
456463C>T 0(?)Arg2155Trp3/60normalRininslandDNASEQDMD_01057Deutschland
456463C>T 0(?)Arg2155Trp1/12normalBaranziniDNASSCADMD_01057Argentina
456463C>T 0(?)Arg2155Trp3/114normalSitnikDNASSCADMD_01057Brazil
456463C>T 0(?)Arg2155Trp6/288normalHofstra, DB: LeidenDNADGGEDMD_01057Nederland
456463C>T 0(?)Arg2155Trp4/38normalDB: Leiden-KneppersDNASEQDMD_01057Nederland
456463C>T 0(?)Arg2155Trp1/151normalAthensDNASSCADMD_01057Greece
456463C>T 0(?)Arg2155Trp1/8normalBennettDNADHPLCDMD_01057USA
456463C>T 0(?)Arg2155TrponcenormalMünsterDNASSCADMD_01057once Deutschland
456463C>T 0(?)Arg2155Trp7/141normalSommer, Am.J.Hum.Genet. 71, S503DNADOVAMDMD_01057American
456463C>T 0(?)Arg2155Trp normalPrior (2003) Am.J.Hum.Genet. 73, 412, A1415DNADHPLCDMD_01057USA
456463C>T   0(?)Arg2155Trp7/141normalFengDNADOVAMDMD_01057USA
456463C>T 06463c>uArg2155Trp2/38normalDB: HamedRNASEQDMD_01057USA
456463C>T   0(=)Arg2155Trp0.05normalDB: Salt Lake CityDNASEQDMD_01057USA

c.6571C>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
456571C>T-0(?)Arg2191Trp1/120normalNigroDNASSCADMD_01059Italia
456571C>T-0(?)Arg2191Trp normalKneppersDNASSCADMD_01059Nederland
456571C>T-0(?)Arg2191Trp7/56normalEraslanDNASSCADMD_01059Turkey
456571C>T-0(?)Arg2191Trp1/8normalBennettDNASEQ, DHPLCDMD_01059USA

c.6913-114A>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
486913-114A>T+TspEI0--5/60normalKilimannDNACMCDMD_01029USA
486913-114A>T+TspEI0--1/13normalTufferyDNASSCADMD_01029France
486913-114A>T+TspEI0--7/33normalNigroDNASSCADMD_01029Italia
486913-114A>T+TspEI0--3/78normalSaadDNADSCADMD_01029Italia
486913-114A>T +TspEI0--0.11normalZietkiewiczDNASSCADMD_01029Caucasian
486913-114A>T +TspEI0--0.07normalZietkiewiczDNASSCADMD_01029Oriental
486913-114A>T+TspEI0--2/18normalDubourgDNAHD, SSCADMD_01029France
486913-114A>T+TspEI0--4/16normalDB: Leiden-KneppersDNASEQDMD_01029Nederland
486913-114A>T +TspEI 0--0.15normalDB: Salt Lake CityDNASEQDMD_01029USA

c.7096C>A

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
487096C>A-MseI0(?)Gln2366Lys11/60normalKilimannDNACMCDMD_01030USA
487096C>A-MseI07096c>aGln2366Lys3/7normalRobertsRNACMCDMD_01030UK
487096C>A-MseI0(?)Gln2366Lys12/76normalTufferyDNASSCADMD_01030France
487096C>A-MseI0(?)Gln2366Lys15/58normalYauDNASEQDMD_01030UK
487096C>A -MseI0(?)Gln2366Lys0.17normalZietkiewiczDNASSCADMD_01030Caucasian
487096C>A -MseI0(?)Gln2366Lys0.11normalZietkiewiczDNASSCADMD_01030Oriental
487096C>A-MseI0(?)Gln2366Lys50/284normalHofstra, DB: LeidenDNADGGEDMD_01030Nederland
487096C>A-MseI07096c>aGln2366Lys13/28normalDB: Leiden-KneppersDNASEQDMD_01030Nederland
487096C>A-MseI0(?)Gln2366Lys28/56normalBebek-IstanbulDNASSCADMD_01030Turkey
487096C>A-MseI0(?)Gln2366Lys3/12normalBaranziniDNASSCADMD_01030Argentina
487096C>A-MseI0(?)Gln2366Lys0.44 (Brazil)normalSitnikDNA18PCR+SSCADMD_01030Brazil
487096C>A-MseI0(?)Gln2366Lys1/8normalBennettDNADHPLCDMD_01030USA
487096C>A -MseI0(?)Gln2366Lys28/141normalFengDNADOVAMDMD_01030USA
487096C>A-MseI0(?)Gln2366Lys normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01030USA
487096C>A-MseI0(?)Gln2366Lys normalPrior (2003) Am.J.Hum.Genet. 73, 412, A1415DNADHPLCDMD_01030USA
487096C>A-MseI07096c>aGln2366Lys 10/38 normalDB: HamedRNASEQDMD_01030USA
487096C>A -MseI 0(=)Gln2366Lys0.23normalDB: Salt Lake CityDNASEQDMD_01030USA
487096C>A -MseI 0(=)Gln2366LysoncenormalTranDNASEQDMD_01030Japan

c.7200+53C>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
497200+53C>G-0--38/66normalTufferyDNASSCADMD_01053France
497200+53C>G-0--15/63normalNigroDNASSCADMD_01053Italia
497200+53C>G-0-- normalPriorDNAHDDMD_01053USA
497200+53C>G -0--0.24normalZietkiewiczDNASSCADMD_01053Caucasian
497200+53C>G -0--0.84normalZietkiewiczDNASSCADMD_01053Oriental
497200+53C>G-0--0.30normalWaddle, ESHG'00#491DNAHDfDMD_01053UK
497200+53C>G-0--1/8normalBennettDNADHPLCDMD_01053USA
497200+53C>G-0--1/4normalDB: Leiden-KneppersDNASEQDMD_01053Nederland
497200+53C>G - 0--0.36normalDB: Salt Lake CityDNASEQDMD_01053USA
497200+53C>G - 0(-)(-)once DMD patientnormalMuscarellaDNADHPLCDMD_01053Italia

c.7728T>C

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
537728T>C-07728u>c-3/7normalRobertsRNACMC, PTTDMD_00763UK
537728T>C-07728u>c-15/104normalPriorRNAHDDMD_00763USA
537728T>C-0(=)-2/12normalBaranziniDNASSCADMD_00763Argentina
537728T>C-0(=)-39/290normalHofstra, DB: LeidenDNADGGEDMD_00763Nederland
537728T>C-0(=)-8/43normalDB: Leiden-KneppersDNASEQDMD_00763Nederland
537728T>C-0(=)-20/100normalKekouDNASSCADMD_00763Greece
537728T>C-0(=)- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_00763USA
537728T>C   0(=)-1/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_00763USA
537728T>C   07728u>c-3/38normalDB: HamedRNART-PCR, SEQDMD_00763USA
537728T>C - 0(=)-0.22normalDB: Salt Lake CityDNASEQDMD_00763USA

c.8027+11C>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
548027+11C>T 0--50/284normalHofstra, DB: LeidenDNADGGEDMD_01016Nederland
548027+11C>T 0--15/38normalDB: Leiden-KneppersDNASEQDMD_01016Nederland
548027+11C>T 0--1/8normalBennettDNADHPLCDMD_01016USA
548027+11C>T 0--5/13normalDubourgDNASSCA, HDDMD_01016France
548027+11C>T 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01016USA
548027+11C>T   0--3/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_01016USA
548027+11C>T - 0--0.30normalDB: Salt Lake CityDNASEQDMD_01016USA

8729_8734delinsTGGTCG

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
598729_8734delinsTGGTCG 0(=)[Glu2910Val; Asn2912Asp]1 IMD patientnormalLenkDNASSCADMD_00061,
(OMIM0061)
Deutschland
598729_8734delinsTGGTCG 0(=)[Glu2910Val; Asn2912Asp]1 (in patient DMD_00140)normalDB: DUARTEDNADOVAMDMD_00061,
(OMIM0061)
USA
598729_8734delinsTGGTCG 0(=)[Glu2910Val; Asn2912Asp]1 (in BMD patient)normalHofstraDNADGGEDMD_00061,
(OMIM0061)
Nederland
598729_8734delinsTGGTCG 0(=)[Glu2910Val; Asn2912Asp]2/141 controlsnormalFengDNADOVAMDMD_00061,
(OMIM0061)
USA
598729_8734delinsTGGTCG 0(=)[Glu2910Val; Asn2912Asp]found in patient with nonsense mutationnormalDB: GLASGOWDNADHPLCDMD_00061,
(OMIM0061)
Scotland
598729_8734delinsTGGTCG   0(=)[Glu2910Val; Asn2912Asp]0.03normalDB: Salt Lake CityDNASEQDMD_00061,
(OMIM0061)
USA

c.8762A>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
598762A>G 0(?)His2921Arg6/120normalNigroDNASSCADMD_01060,
(OMIM0063)
Italia
598762A>G 0(?)His2921Arg2/39normalLenkDNASSCADMD_01060,
(OMIM0063)
Deutschland
598762A>G 0(?)His2921Arg2/75normalAthensDNASSCADMD_01060,
(OMIM0063)
Greece
598762A>G 0(?)His2921Arg8/186normalHofstra, DB: LeidenDNADGGEDMD_01060,
(OMIM0063)
Nederland
598762A>G 0(?)His2921Arg1/21normalDB: Leiden-KneppersDNASEQDMD_01060,
(OMIM0063)
Nederland
598762A>G 0(?)His2921ArgoncenormalDB: HoustonDNASEQDMD_01060,
(OMIM0063)
USA
598762A>G - 0(?)His2921Arg0.03normalDB: Salt Lake CityDNASEQDMD_01060,
(OMIM0063)
USA

c.8810A>G

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
598810A>G-EcoRII0(?)Gln2937Arg5/120normalNigroDNASSCADMD_01055Itaila
598810A>G-EcoRII0(?)Gln2937Arg0.047normalPrior, Prior (2003) Am.J.Hum.Genet. 73, 412, A1415DNAHD, DHPLCDMD_01055USA
598810A>G-EcoRII0(?)Gln2937Arg5/186normalHofstra, DB: LeidenDNADGGEDMD_01055Nederland
598810A>G-EcoRII08810a>gGln2937Arg2/11normalDB: Leiden-KneppersRNASEQDMD_01055Nederland
598810A>G-EcoRII0(?)Gln2937Arg2/8normalBennettDNADHPLCDMD_01055USA
598810A>G-EcoRII0(?)Gln2937Arg13/141normalFengDNADOVAMDMD_01055USA
598810A>G-EcoRII08810a>gGln2937Arg2/38normalDB: HamedRNASEQDMD_01055USA
598810A>G -EcoRII 0(?)Gln2937Arg0.10normalDB: Salt Lake CityDNASEQDMD_01055USA

c.9649+15C>T

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
669649+15C>T 0-- normalLenkDNASSCADMD_01018Deutschland
669649+15C>T 0--7/12normalBaranziniDNASSCADMD_01018Argentina
669649+15C>T 0-- normalWibawa ASHG97#2053DNASSCADMD_01018Japan
669649+15C>T 0--40/288normalHofstra, DB: LeidenDNADGGEDMD_01018Nederland
669649+15C>T 0--7/35normalDB: Leiden-KneppersDNASEQDMD_01018Nederland
669649+15C>T 0--1/18normalDubourgDNASSCADMD_01018France
669649+15C>T 0--21/135normalKekouDNASSCADMD_01018Greece
669649+15C>T 0--1/8normalBennettDNADHPLCDMD_01018USA
669649+15C>T 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01018USA
669649+15C>T   0--0.12normalDB: Salt Lake CityDNASEQDMD_01018USA
669649+15C>T   0--14/140normalMuscarellaDNADHPLCDMD_01018Italia

c.9974+13_9974+23(A)9-12

exonDNA allele 1REDNA allele 2RNAProteinFreq.PhenotypeReferenceDNA/RNATechniqueDB-IDRemarks
689974+13_9974+23(A)9-12 0--2/116,
45/116,
68/116,
1/116
normalNigroDNA37PCR+SSCADMD_01031Italia
689974+13_9974+23(A)9-12 0--0.07,
0.44,
-,
-
normalTufferyDNASSCADMD_01031France
689974+13_9974+23(A)9-12 0--3/51,
22/51,
26/51,
0/51
normalHofstraDNASSCA, DGGE and HDDMD_01031Nederland
689974+13_9974+23(A)9-12 0--0/27,
12/27,
15/27,
0/27
normalBaranziniDNASSCADMD_01031Argentina
689974+13_9974+23(A)9-12 0---,
2/18,
16/18,
-
normalDubourgDNASSCA, HDDMD_01031France
689974+13_9974+23(A)11   0(?)-1/6(patients 8713C>T)DB: DUARTEDNADOVAMDMD_01031USA
689974+13_9974+23(A)9-10 0-- normalRichards (2003) Am.J.Hum.Genet. 73, 566, A2335DNADHPLCDMD_01031USA
689974+13_9974+23(A)9-12   0--0.07normalDB: Salt Lake CityDNASEQDMD_01031USA


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