Leiden Muscular Dystrophy pages^©

Frequently reported DMD gene sequence variants

(last modified February, 2007)

c.94-9dupT

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
3	94-9dupT	-	0	-	-	11/85	normal	Tuffery	DNA	SSCA	DMD_01021	France
3	94-9dupT	-	0	-	-	15/105	normal	Prior	DNA	SSCA	DMD_01021	USA
3	94-9dupT	-	0	-	-	0.33	normal	Muntoni	DNA	SSCA	DMD_01021	Italia
3	94-9dupT	-	0	-	-	4/18	normal	Dubourg	DNA	HD	DMD_01021	France
3	94-9dupT	-	0	-	-	5/80	normal	Baiget	DNA	SSCA	DMD_01021	Spain
3	94-9dupT	-	0	-	-	-	normal	Eraslan	DNA	SSCA	DMD_01021	Turkey
3	94-9dupT	-	0	-	-	0.09	normal	Waddle, ESHG'00#491	DBA	HDf	DMD_01021	UK
3	94-9dupT	-	0	-	-	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01021	USA
3	94-9dupT	-	0	-	-	1/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_01021	USA
3	94-9dupT	-	0	-	-	4/24	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01021	Nederland
3	94-9dupT	-	0	(-)	(-)	0.10	normal	DB: Salt Lake City	DNA	SEQ	DMD_01021	USA
3	94-9dupT	-	0	(-)	(-)	0/144, once DMD patient	normal	Muscarella	DNA	DHPLC	DMD_01021	Italia

c.832-18_832-17delinsGA

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
9	832-18_832-17delinsGA		0	(?)	-	2/152	normal	DB: Leiden	DNA	DGGE	DMD_00325	Nederland
9	832-18_832-17delinsGA		0	(?)	-	1/8	normal	Bennet	DNA	SEQ	DMD_00325	USA
9	832-18_832-17delinsGA		0	(?)	-		normal	DB: NANCY	DNA	DEQ	DMD_00325	France
9	832-18_832-17delinsGA		0	(?)	-		normal	Waddle, ESHG'00#491	DNA	HDf	DMD_00325	UK

c.837G>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
9	837G>A		0	(?)	-	12/150	normal	Ortiz-Lopez	DNA	SSCA	DMD_01047	USA
9	837G>A		0	(?)	-	1/80	normal	Baiget	DNA	SSCA	DMD_01047	Spain
9	837G>A		0	(?)	-	2/15	normal	Dolinsky	DNA	DGGE	DMD_01047	Brazil
9	837G>A		0	(?)	-	0.04	normal	Waddle, ESHG'00#491	DNA	HDf	DMD_01047	UK
9	837G>A		0	837g>a	-	4/38	normal	DB: Hamed	RNA	SEQ	DMD_01047	USA
9	837G>A		0	(-)	(-)	0.02	normal	DB: Salt Lake City	DNA	SEQ	DMD_01047	USA

c.1483-72T>C

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
13	1483-72T>C	+DdeI	0	-	-	4/68	normal	Tuffery	DNA	SSCA	DMD_01049	France
13	1483-72T>C	+DdeI	0	-	-	8/68	normal	Lenk	DNA	SSCA	DMD_01049	Deutschland
13	1483-72T>C	+DdeI	0	-	-	0.09	normal	Zietkiewicz	DNA	SSCA	DMD_01049	Caucasian
13	1483-72T>C	+DdeI	0	-	-	0.10	normal	Zietkiewicz	DNA	SSCA	DMD_01049	Oriental
13	1483-72T>C	+DdeI	0	-	-	19/80	normal	Baiget	DNA	SSCA	DMD_01049	Spain
13	1483-72T>C	+DdeI	0	-	-	12/56	normal	Eraslan	DNA	SSCA	DMD_01049	Turkey
13	1483-72T>C	+DdeI	0	-	-	1/8	normal	Bennett	DNA	DHPLC	DMD_01049	USA
13	1483-72T>C	+DdeI	0	-	-			Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01049	USA
13	1483-72T>C	+DdeI	0	(-)	(-)	0.08	normal	DB: Salt Lake City	DNA	SEQ	DMD_01049	USA

c.1483-67A>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
13	1483-67A>T		0	-	-	6/68	normal	Tuffery	DNA	SSCA	DMD_01037	France
13	1483-67A>T		0	-	-	5/68	normal	Lenk	DNA	SSCA	DMD_01037	Deutschland
13	1483-67A>T		0	-	-	0.03	normal	Zietkiewicz	DNA	SSCA	DMD_01037	Caucasian
13	1483-67A>T		0	-	-	0.10	normal	Zietkiewicz	DNA	SSCA	DMD_01037	Oriental
13	1483-67A>T		0	-	-	15/80	normal	Baiget	DNA	SSCA	DMD_01037	Spain
13	1483-67A>T		0	-	-	2/56	normal	Eraslan	DNA	SSCA	DMD_01037	Turkey
13	1483-67A>T		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01037	USA
13	1483-67A>T		0	(-)	(-)	0.04	normal	DB: Salt Lake City	DNA	SEQ	DMD_01037	USA

c.1635A>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
14	1635A>G		0	-	-	10/186	normal	Hofstra	DNA	DGGE	DMD_00319	Nederland
14	1635A>G		0	-	-	16/93	normal	Mendell	DNA	SSCA	DMD_00319	USA
14	1635A>G		0	-	-	2/8	normal	Bennett	DNA	DHPLC	DMD_00319	USA
14	1635A>G		0	-	-	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00319	USA
14	1635A>G		0	-	-	1/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_00319	USA
14	1635A>G		0	1635a>g	-	1/38	normal	DB: Hamed	RNA	SEQ	DMD_00319	USA
14	1635A>G		0	(-)	(-)	0.12	normal	DB: Salt Lake City	DNA	SEQ	DMD_00319	USA
14	1635A>G	-	0	(-)	(-)	once DMD patient	normal	Muscarella	DNA	DHPLC	DMD_00319	Italia

c.1704+51T>C

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
14	1704+51T>C		0	(-)	(-)	2/8	normal	Bennett	DNA	DHPLC	DMD_00322	USA
14	1704+51T>C		0	(-)	(-)		normal	Richards (2003) Am.J.Hum.Genet. 73: 566, A2335	DNA	DHPLC	DMD_00322	USA
14	1704+51T>C		0	(-)	(-)	4/21	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_00322	Nederland
14	1704+51T>C		0	(-)	(-)	0.11	normal	DB: Salt Lake City	DNA	SEQ	DMD_00322	USA

c.1993-37T>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
17	1993-37T>G	-TaqI, +MaeI	0	-	-	13/60	normal	Kilimann	DNA	CMC	DMD_00743	USA
17	1993-37G>T	-TaqI, +MaeI	0	-	-	30/110	normal	Prior	DNA	HD	DMD_00743	USA
17	1993-37G>T	-TaqI, +MaeI	0	-	-	11/35	normal	Tuffery	DNA	SSCA	DMD_00743	France
17	1993-37G>T	-TaqI, +MaeI	0	-	-	18/57	normal	Nigro	DNA	SSCA	DMD_00743	Italia
17	1993-37G>T	-TaqI, +MaeI	0	-	-	0.38	normal	Zietkiewicz	DNA	SSCA	DMD_00743	Caucasian
17	1993-37G>T	-TaqI, +MaeI	0	-	-	0.03	normal	Zietkiewicz	DNA	SSCA	DMD_00743	Oriental
17	1993-37G>T	-TaqI, +MaeI	0	-	-	42/80	normal	Baiget	DNA	SSCA	DMD_00743	Spain
17	1993-37G>T	-TaqI, +MaeI	0	-	-	25/56	normal	Eraslan	DNA	SSCA	DMD_00743	Turkey
17	1993-37G>T	-TaqI, +MaeI	0	-	-	42/286	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_00743	Nederland
17	1993-37G>T	-TaqI, +MaeI	0	-	-	11/24	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_00743	Nederland
17	1993-37G>T	-TaqI, +MaeI	0	-	-	5/12	normal	Baranzini	DNA	SSCA	DMD_00743	Argentina
17	1993-37G>T	-TaqI, +MaeI	0	-	-	0.37	normal	Sitnik	DNA	SSCA	DMD_00743	Brazil
17	1993-37G>T	-TaqI, +MaeI	0	-	-	6/18	normal	Dubourg	DNA	HD, SSCA	DMD_00743	France
17	1993-37G>T	-TaqI, +MaeI	0	-	-	1/15	normal	Dolinsky	DNA	DGGE	DMD_00743	Brasil
17	1993-37G>T	-TaqI, +MaeI	0	-	-	2/50	normal	Chaturvedi	DNA	SSCA	DMD_00743	India
17	1993-37G>T		0	(-)	p	0.31	normal	DB: Salt Lake City	DNA	SEQ	DMD_00743	USA

c.2168+13T>C

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
17	2168+13T>C		0	-	-	9/12	normal	Baranzini	DNA	SSCA	DMD_01025	Argentina
17	2168+13T>C		0	-	-	246/284	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01025	Nederland
17	2168+13T>C		0	-	-	8/24	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01025	Nederland
17	2168+13T>C		0	-	-	12/15	normal	Dolinsky	DNA	DGGE	DMD_01025	Brazil
17	2168+13T>C		0	-	-	7/8	normal	Bennett	DNA	DHPLC	DMD_01025	USA
17	2168+13T>C		0	-	-	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01025	USA
17	2168+13T>C		0	-	-	2/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_01025	USA
17	2168+13T>C		0	(-)		0.26	normal	DB: Salt Lake City	DNA	SEQ	DMD_01025	USA
17	2168+13T>C		0	(-)		1/6	normal	Shen	DNA	DHPLC	DMD_01025	China

c.2645G>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
21	2645G>A	+BglII	0	3021g>a	Gly882Asp	1/7	normal	Roberts	RNA	CMC	DMD_00761	UK
21	2645G>A	+BglII	0	(=)	Gly882Asp	50/278	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_00761	Nederland
21	2645G>A	+BglII	0	(=)	Gly882Asp	12/30	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_00761	Nederland
21	2645G>A	+BglII	0	(=)	Gly882Asp	1/8	normal	Bennett	DNA	SEQ	DMD_00761	USA
21	2645G>A	+BglII	0	(=)	Gly882Asp	11/15	normal	DB: Dolinsky	DNA	DGGE	DMD_00761	Brazil
21	2645G>A	+BglII	0	(=)	Gly882Asp	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00761	USA
21	2645G>A	+BglII	0	(=)	Gly882Asp	2/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_00761	USA
21	2645G>A	+BglII	0	2645g>a	Gly882Asp	1/38	normal	DB: Hamed	RNA	SEQ	DMD_00761	USA
21	2645G>A	+BglII	0	(=)	Gly882Asp	0.38	normal	DB: Salt Lake City	DNA	SEQ	DMD_00761	USA

c.3021G>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
23	3021G>A	-TaqI	0	3021g>a	-	1/7	normal	Roberts	RNA	CMC	DMD_01011	UK
23	3021G>A	-TaqI	0	(?)	-	2/132	normal	Hofstra	DNA	DGGE	DMD_01011	Nederland
23	3021G>A	-TaqI	0	(?)	-	1/8	normal	Bennett	DNA	SEQ	DMD_01011	USA
23	3021G>A	-TaqI	0	(?)	-	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01011	USA
23	3021G>A	-TaqI	0	3021g>a	-	4/38	normal	DB: Hamed	RNA	SEQ	DMD_01011	USA
23	3021G>A	-TaqI	0	(=)	-	0.02	normal	DB: Salt Lake City	DNA	SEQ	DMD_01011	USA

c.3603+3(A)12-14

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
26	3603+15delA		0	-	-	-	normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00945	USA
26	3603+15delA		0	-	-	2/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_00945	USA
26	3603+15dupA		0	-	-		normal	Leiden	RNA	RT-PCR+PTT, SEQ	DMD_00945	once in DMD patient Nederland
26	3603+15dupA		0	-	-	32/93	normal	Mendell	DNA	SSCA	DMD_00945	USA
26	3603+15dupA		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00945	USA

c.3734C>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
27	3734C>T		0	3734c>u	Thr1245Ile	1/7	normal	Roberts	RNA	CMC	DMD_01002	once UK
27	3734C>T		0	3734c>u	Thr1245Ile	1/7	normal	Hegde, Am.J.Hum.Genet. 71, S319	RNA	DHPLC	DMD_01002	once American patient
27	3734C>T		0	(?)	Thr1245Ile	-	normal	Prior (2003) Am.J.Hum.Genet. 73, 412, A1415	DNA	DHPLC	DMD_01002	USA
27	3734C>T		0	3734c>u	Thr1245Ile	10/38	normal	DB: Hamed	RNA	SEQ	DMD_01002	USA
27	3734C>T		0	-	Thr1245Ile	0.04	normal	DB: Salt Lake City	DNA	SEQ	DMD_01002	USA

c.4234-13A>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
31	4234-13A>G		0	-	-	~0.02 (reported twice)	normal	LYON	RNA	RT-PCR, SEQ	DMD_00264	found twice France (freq ~0.02)
31	4234-13A>G		0	-	-	21/284	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_00264	Nederland
31	4234-13A>G		0	-	-	2/34	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_00264	Nederland
31	4234-13A>G		0	-	-	8/89	normal	Mendell	DNA	SSCA	DMD_00264	USA
31	4234-13A>G		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00264	USA
31	4234-13A>G		0	-	-	1/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_00264	USA
31	4234-13A>G		0	-	-	0.05	normal	DB: Salt Lake City	DNA	SEQ	DMD_00264	USA

c.5234G>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
37	5234G>A	-SacII	0	(=)	Arg1745His	41/99	normal	Rininsland	DNA	CMC	DMD_01039	Deutschland
37	5234G>A	-SacII	0	5234g>a	Arg1745His	3/7	normal	Roberts	RNA	SEQ	DMD_01039	UK
37	5234G>A	-SacII	0	(=)	Arg1745His	7/8	normal	Bennett	DNA	SEQ, DHPLC	DMD_01039	USA
37	5234G>A	-SacII	0	(=)	Arg1745His		normal	Prior (2003) Am.J.Hum.Genet. 73, 412, A1415	DNA	DHPLC	DMD_01039	USA
37	5234G>A	-SacII	0	(=)	Arg1745His		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01039	USA
37	5234G>A	-SacII	0	(=)	Arg1745His	3/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_01039	USA
37	5234G>A	-SacII	0	5234g>a	Arg1745His	14/38	normal	DB: Leiden-Kneppers	RNA	SEQ	DMD_01039	Nederland
37	5234G>A	-SacII	0	5234g>a	Arg1745His	15/38	normal	DB: Hamed	RNA	SEQ	DMD_01039	USA
37	5234G>A	-SacII	0	(=)	Arg1745His	0.52	normal	DB: Salt Lake City	DNA	SEQ	DMD_01039	USA
37	5234G>A	-SacII	0	(-)	Arg1745His	1/6	normal	Shen	DNA	DHPLC	DMD_01039	China
37	5234G>A	-SacII	0	(-)	(-)	once DMD patient	normal	Muscarella	DNA	DHPLC	DMD_01039	Italia

c.6118-63A>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
43	6118-63A>T		0	-	-	once	normal	Saad	DNA	DSCA	DMD_01005	once Italia
43	6118-63A>T		0	-	-	once	normal	Groningen	DNA	SSCA	DMD_01005	Nederland
43	6118-63A>T		0	-	-	1/8	normal	Bennett	DNA	SEQ, DHPLC	DMD_01005	USA
43	6118-63A>T		0	-	-	0.01	normal	DB: Salt Lake City	DNA	SEQ	DMD_01005	USA

c.6118-63_6118-62dupAT

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
43	6118-63_6118-62dup	-	0	-	-	1/27	normal	Baranzini	DNA	SSCA	DMD_01042	Argentina
43	6118-63_6118-62dup	-	0	-	-	1/80	normal	Baiget	DNA	SSCA	DMD_01042	Spain
43	6118-63_6118-62dup	-	0	-	-	8/56	normal	Eraslan	DNA	SSCA	DMD_01042	Turkey
43	c.6118-75(AT)7_9	-	0	-	-	0.01	normal	DB: Salt Lake City	DNA	SEQ	DMD_01042	USA

c.6439-143G>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
45	6439-143G>A	-	0	-	-	13/60	normal	Kilimann	DNA	CMC	DMD_01043	USA
45	6439-143G>A	-	0	-	-	27/104	normal	Prior	DNA	HD	DMD_01043	USA
45	6439-143G>A	-	0	-	-	42/61	normal	Tuffery	DNA	SSCA	DMD_01043	France
45	6439-143G>A	-	0	-	-	14/51	normal	Nigro	DNA	SSCA	DMD_01043	Italia
45	6439-143G>A	-	0	-	-	0.33	normal	Zietkiewicz	DNA	SSCA	DMD_01043	Caucasian
45	6439-143G>A	-	0	-	-	0.55	normal	Zietkiewicz	DNA	SSCA	DMD_01043	Oriental
45	6439-143G>A	-	0	-	-	25/80	normal	Barcelona	DNA	SSCA	DMD_01043	Spain
45	6439-143G>A	-	0	-	-	5/12	normal	Baranzini	DNA	SSCA	DMD_01043	Argentina
45	6439-143G>A	-	0	-	-	0.31	normal	Sitnik	DNA	SSCA	DMD_01043	Brazil
45	6439-143G>A	-	0	-	-	3/18	normal	Dubourg	DNA	HD, SSCA	DMD_01043	France
45	6439-143G>A	-	0	-	-	0.26	normal	DB: Salt Lake City	DNA	SEQ	DMD_01043	USA

c.6463C>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
45	6463C>T		0	(?)	Arg2155Trp	3/60	normal	Rininsland	DNA	SEQ	DMD_01057	Deutschland
45	6463C>T		0	(?)	Arg2155Trp	1/12	normal	Baranzini	DNA	SSCA	DMD_01057	Argentina
45	6463C>T		0	(?)	Arg2155Trp	3/114	normal	Sitnik	DNA	SSCA	DMD_01057	Brazil
45	6463C>T		0	(?)	Arg2155Trp	6/288	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01057	Nederland
45	6463C>T		0	(?)	Arg2155Trp	4/38	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01057	Nederland
45	6463C>T		0	(?)	Arg2155Trp	1/151	normal	Athens	DNA	SSCA	DMD_01057	Greece
45	6463C>T		0	(?)	Arg2155Trp	1/8	normal	Bennett	DNA	DHPLC	DMD_01057	USA
45	6463C>T		0	(?)	Arg2155Trp	once	normal	Münster	DNA	SSCA	DMD_01057	once Deutschland
45	6463C>T		0	(?)	Arg2155Trp	7/141	normal	Sommer, Am.J.Hum.Genet. 71, S503	DNA	DOVAM	DMD_01057	American
45	6463C>T		0	(?)	Arg2155Trp		normal	Prior (2003) Am.J.Hum.Genet. 73, 412, A1415	DNA	DHPLC	DMD_01057	USA
45	6463C>T		0	(?)	Arg2155Trp	7/141	normal	Feng	DNA	DOVAM	DMD_01057	USA
45	6463C>T		0	6463c>u	Arg2155Trp	2/38	normal	DB: Hamed	RNA	SEQ	DMD_01057	USA
45	6463C>T		0	(=)	Arg2155Trp	0.05	normal	DB: Salt Lake City	DNA	SEQ	DMD_01057	USA

c.6571C>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
45	6571C>T	-	0	(?)	Arg2191Trp	1/120	normal	Nigro	DNA	SSCA	DMD_01059	Italia
45	6571C>T	-	0	(?)	Arg2191Trp		normal	Kneppers	DNA	SSCA	DMD_01059	Nederland
45	6571C>T	-	0	(?)	Arg2191Trp	7/56	normal	Eraslan	DNA	SSCA	DMD_01059	Turkey
45	6571C>T	-	0	(?)	Arg2191Trp	1/8	normal	Bennett	DNA	SEQ, DHPLC	DMD_01059	USA

c.6913-114A>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
48	6913-114A>T	+TspEI	0	-	-	5/60	normal	Kilimann	DNA	CMC	DMD_01029	USA
48	6913-114A>T	+TspEI	0	-	-	1/13	normal	Tuffery	DNA	SSCA	DMD_01029	France
48	6913-114A>T	+TspEI	0	-	-	7/33	normal	Nigro	DNA	SSCA	DMD_01029	Italia
48	6913-114A>T	+TspEI	0	-	-	3/78	normal	Saad	DNA	DSCA	DMD_01029	Italia
48	6913-114A>T	+TspEI	0	-	-	0.11	normal	Zietkiewicz	DNA	SSCA	DMD_01029	Caucasian
48	6913-114A>T	+TspEI	0	-	-	0.07	normal	Zietkiewicz	DNA	SSCA	DMD_01029	Oriental
48	6913-114A>T	+TspEI	0	-	-	2/18	normal	Dubourg	DNA	HD, SSCA	DMD_01029	France
48	6913-114A>T	+TspEI	0	-	-	4/16	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01029	Nederland
48	6913-114A>T	+TspEI	0	-	-	0.15	normal	DB: Salt Lake City	DNA	SEQ	DMD_01029	USA

c.7096C>A

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
48	7096C>A	-MseI	0	(?)	Gln2366Lys	11/60	normal	Kilimann	DNA	CMC	DMD_01030	USA
48	7096C>A	-MseI	0	7096c>a	Gln2366Lys	3/7	normal	Roberts	RNA	CMC	DMD_01030	UK
48	7096C>A	-MseI	0	(?)	Gln2366Lys	12/76	normal	Tuffery	DNA	SSCA	DMD_01030	France
48	7096C>A	-MseI	0	(?)	Gln2366Lys	15/58	normal	Yau	DNA	SEQ	DMD_01030	UK
48	7096C>A	-MseI	0	(?)	Gln2366Lys	0.17	normal	Zietkiewicz	DNA	SSCA	DMD_01030	Caucasian
48	7096C>A	-MseI	0	(?)	Gln2366Lys	0.11	normal	Zietkiewicz	DNA	SSCA	DMD_01030	Oriental
48	7096C>A	-MseI	0	(?)	Gln2366Lys	50/284	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01030	Nederland
48	7096C>A	-MseI	0	7096c>a	Gln2366Lys	13/28	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01030	Nederland
48	7096C>A	-MseI	0	(?)	Gln2366Lys	28/56	normal	Bebek-Istanbul	DNA	SSCA	DMD_01030	Turkey
48	7096C>A	-MseI	0	(?)	Gln2366Lys	3/12	normal	Baranzini	DNA	SSCA	DMD_01030	Argentina
48	7096C>A	-MseI	0	(?)	Gln2366Lys	0.44 (Brazil)	normal	Sitnik	DNA	18PCR+SSCA	DMD_01030	Brazil
48	7096C>A	-MseI	0	(?)	Gln2366Lys	1/8	normal	Bennett	DNA	DHPLC	DMD_01030	USA
48	7096C>A	-MseI	0	(?)	Gln2366Lys	28/141	normal	Feng	DNA	DOVAM	DMD_01030	USA
48	7096C>A	-MseI	0	(?)	Gln2366Lys		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01030	USA
48	7096C>A	-MseI	0	(?)	Gln2366Lys		normal	Prior (2003) Am.J.Hum.Genet. 73, 412, A1415	DNA	DHPLC	DMD_01030	USA
48	7096C>A	-MseI	0	7096c>a	Gln2366Lys	10/38	normal	DB: Hamed	RNA	SEQ	DMD_01030	USA
48	7096C>A	-MseI	0	(=)	Gln2366Lys	0.23	normal	DB: Salt Lake City	DNA	SEQ	DMD_01030	USA
48	7096C>A	-MseI	0	(=)	Gln2366Lys	once	normal	Tran	DNA	SEQ	DMD_01030	Japan

c.7200+53C>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
49	7200+53C>G	-	0	-	-	38/66	normal	Tuffery	DNA	SSCA	DMD_01053	France
49	7200+53C>G	-	0	-	-	15/63	normal	Nigro	DNA	SSCA	DMD_01053	Italia
49	7200+53C>G	-	0	-	-		normal	Prior	DNA	HD	DMD_01053	USA
49	7200+53C>G	-	0	-	-	0.24	normal	Zietkiewicz	DNA	SSCA	DMD_01053	Caucasian
49	7200+53C>G	-	0	-	-	0.84	normal	Zietkiewicz	DNA	SSCA	DMD_01053	Oriental
49	7200+53C>G	-	0	-	-	0.30	normal	Waddle, ESHG'00#491	DNA	HDf	DMD_01053	UK
49	7200+53C>G	-	0	-	-	1/8	normal	Bennett	DNA	DHPLC	DMD_01053	USA
49	7200+53C>G	-	0	-	-	1/4	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01053	Nederland
49	7200+53C>G	-	0	-	-	0.36	normal	DB: Salt Lake City	DNA	SEQ	DMD_01053	USA
49	7200+53C>G	-	0	(-)	(-)	once DMD patient	normal	Muscarella	DNA	DHPLC	DMD_01053	Italia

c.7728T>C

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
53	7728T>C	-	0	7728u>c	-	3/7	normal	Roberts	RNA	CMC, PTT	DMD_00763	UK
53	7728T>C	-	0	7728u>c	-	15/104	normal	Prior	RNA	HD	DMD_00763	USA
53	7728T>C	-	0	(=)	-	2/12	normal	Baranzini	DNA	SSCA	DMD_00763	Argentina
53	7728T>C	-	0	(=)	-	39/290	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_00763	Nederland
53	7728T>C	-	0	(=)	-	8/43	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_00763	Nederland
53	7728T>C	-	0	(=)	-	20/100	normal	Kekou	DNA	SSCA	DMD_00763	Greece
53	7728T>C	-	0	(=)	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_00763	USA
53	7728T>C		0	(=)	-	1/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_00763	USA
53	7728T>C		0	7728u>c	-	3/38	normal	DB: Hamed	RNA	RT-PCR, SEQ	DMD_00763	USA
53	7728T>C	-	0	(=)	-	0.22	normal	DB: Salt Lake City	DNA	SEQ	DMD_00763	USA

c.8027+11C>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
54	8027+11C>T		0	-	-	50/284	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01016	Nederland
54	8027+11C>T		0	-	-	15/38	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01016	Nederland
54	8027+11C>T		0	-	-	1/8	normal	Bennett	DNA	DHPLC	DMD_01016	USA
54	8027+11C>T		0	-	-	5/13	normal	Dubourg	DNA	SSCA, HD	DMD_01016	France
54	8027+11C>T		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01016	USA
54	8027+11C>T		0	-	-	3/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_01016	USA
54	8027+11C>T	-	0	-	-	0.30	normal	DB: Salt Lake City	DNA	SEQ	DMD_01016	USA

8729_8734delinsTGGTCG

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	1 IMD patient	normal	Lenk	DNA	SSCA	DMD_00061, (OMIM0061)	Deutschland
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	1 (in patient DMD_00140)	normal	DB: DUARTE	DNA	DOVAM	DMD_00061, (OMIM0061)	USA
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	1 (in BMD patient)	normal	Hofstra	DNA	DGGE	DMD_00061, (OMIM0061)	Nederland
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	2/141 controls	normal	Feng	DNA	DOVAM	DMD_00061, (OMIM0061)	USA
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	found in patient with nonsense mutation	normal	DB: GLASGOW	DNA	DHPLC	DMD_00061, (OMIM0061)	Scotland
59	8729_8734delinsTGGTCG		0	(=)	[Glu2910Val; Asn2912Asp]	0.03	normal	DB: Salt Lake City	DNA	SEQ	DMD_00061, (OMIM0061)	USA

c.8762A>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
59	8762A>G		0	(?)	His2921Arg	6/120	normal	Nigro	DNA	SSCA	DMD_01060, (OMIM0063)	Italia
59	8762A>G		0	(?)	His2921Arg	2/39	normal	Lenk	DNA	SSCA	DMD_01060, (OMIM0063)	Deutschland
59	8762A>G		0	(?)	His2921Arg	2/75	normal	Athens	DNA	SSCA	DMD_01060, (OMIM0063)	Greece
59	8762A>G		0	(?)	His2921Arg	8/186	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01060, (OMIM0063)	Nederland
59	8762A>G		0	(?)	His2921Arg	1/21	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01060, (OMIM0063)	Nederland
59	8762A>G		0	(?)	His2921Arg	once	normal	DB: Houston	DNA	SEQ	DMD_01060, (OMIM0063)	USA
59	8762A>G	-	0	(?)	His2921Arg	0.03	normal	DB: Salt Lake City	DNA	SEQ	DMD_01060, (OMIM0063)	USA

c.8810A>G

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	5/120	normal	Nigro	DNA	SSCA	DMD_01055	Itaila
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	0.047	normal	Prior, Prior (2003) Am.J.Hum.Genet. 73, 412, A1415	DNA	HD, DHPLC	DMD_01055	USA
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	5/186	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01055	Nederland
59	8810A>G	-EcoRII	0	8810a>g	Gln2937Arg	2/11	normal	DB: Leiden-Kneppers	RNA	SEQ	DMD_01055	Nederland
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	2/8	normal	Bennett	DNA	DHPLC	DMD_01055	USA
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	13/141	normal	Feng	DNA	DOVAM	DMD_01055	USA
59	8810A>G	-EcoRII	0	8810a>g	Gln2937Arg	2/38	normal	DB: Hamed	RNA	SEQ	DMD_01055	USA
59	8810A>G	-EcoRII	0	(?)	Gln2937Arg	0.10	normal	DB: Salt Lake City	DNA	SEQ	DMD_01055	USA

c.9649+15C>T

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
66	9649+15C>T		0	-	-		normal	Lenk	DNA	SSCA	DMD_01018	Deutschland
66	9649+15C>T		0	-	-	7/12	normal	Baranzini	DNA	SSCA	DMD_01018	Argentina
66	9649+15C>T		0	-	-		normal	Wibawa ASHG97#2053	DNA	SSCA	DMD_01018	Japan
66	9649+15C>T		0	-	-	40/288	normal	Hofstra, DB: Leiden	DNA	DGGE	DMD_01018	Nederland
66	9649+15C>T		0	-	-	7/35	normal	DB: Leiden-Kneppers	DNA	SEQ	DMD_01018	Nederland
66	9649+15C>T		0	-	-	1/18	normal	Dubourg	DNA	SSCA	DMD_01018	France
66	9649+15C>T		0	-	-	21/135	normal	Kekou	DNA	SSCA	DMD_01018	Greece
66	9649+15C>T		0	-	-	1/8	normal	Bennett	DNA	DHPLC	DMD_01018	USA
66	9649+15C>T		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01018	USA
66	9649+15C>T		0	-	-	0.12	normal	DB: Salt Lake City	DNA	SEQ	DMD_01018	USA
66	9649+15C>T		0	-	-	14/140	normal	Muscarella	DNA	DHPLC	DMD_01018	Italia

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

exon	DNA allele 1	RE	DNA allele 2	RNA	Protein	Freq.	Phenotype	Reference	DNA/RNA	Technique	DB-ID	Remarks
68	9974+13_9974+23(A)9-12		0	-	-	2/116, 45/116, 68/116, 1/116	normal	Nigro	DNA	37PCR+SSCA	DMD_01031	Italia
68	9974+13_9974+23(A)9-12		0	-	-	0.07, 0.44, -, -	normal	Tuffery	DNA	SSCA	DMD_01031	France
68	9974+13_9974+23(A)9-12		0	-	-	3/51, 22/51, 26/51, 0/51	normal	Hofstra	DNA	SSCA, DGGE and HD	DMD_01031	Nederland
68	9974+13_9974+23(A)9-12		0	-	-	0/27, 12/27, 15/27, 0/27	normal	Baranzini	DNA	SSCA	DMD_01031	Argentina
68	9974+13_9974+23(A)9-12		0	-	-	-, 2/18, 16/18, -	normal	Dubourg	DNA	SSCA, HD	DMD_01031	France
68	9974+13_9974+23(A)11		0	(?)	-	1/6	(patients 8713C>T)	DB: DUARTE	DNA	DOVAM	DMD_01031	USA
68	9974+13_9974+23(A)9-10		0	-	-		normal	Richards (2003) Am.J.Hum.Genet. 73, 566, A2335	DNA	DHPLC	DMD_01031	USA
68	9974+13_9974+23(A)9-12		0	-	-	0.07	normal	DB: Salt Lake City	DNA	SEQ	DMD_01031	USA

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