The UMD-DMD France mutations database
Small lesions (633 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Trp4X	c.11G>A	1	4	Dp427m unique N-Ter		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2288 ---179-5-m1 Male Hemizygous FRANCE BMD 114
	c.IVS1+1G>T (c.31+1G>T)	1-2	11			Small rearrangement	Tv	G->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1689 ---277-4-6311 Male Hemizygous FRANCE DCM 116 2577 ---C48-0-641 Male Hemizygous FRANCE DCM 116 1725 ---219-8-3831 Male Hemizygous FRANCE DCM 116 1732 ---219-8-5341 Male Hemizygous FRANCE BMD 116 1733 ---219-8-5331 Male Hemizygous FRANCE BMD 116 2578 ---C48-0-671 Male Hemizygous FRANCE DCM 116 1760 ---219-8-4841 Male Hemizygous FRANCE BMD 116 1793 ---277-4-6001 Male Hemizygous FRANCE DCM 116 1794 ---277-4-6021 Male Hemizygous FRANCE DCM 116 868 ---595-0-1 Male Hemizygous FRANCE BMD 10 3225 ---225-3-1 Male Hemizygous FRANCE BMD 1 3322 ---875-0-1 Male Hemizygous FRANCE DCM 1
	c.IVS1+2insT (c.31+2insT)	1-2	11	Dp427m unique N-Ter		Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2703 ---347-3-61 Male Hemizygous FRANCE BMD 106
	c.IVS1+3insT (c.31+3insT)	1-2	11			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3340 ---164-0-1 Male Hemizygous FRANCE BMD 1 3341 ---164-1-1 Male Hemizygous FRANCE BMD 1
	c.IVS1+5G>C (c.31+5G>C)	1-2	11			Small rearrangement	Tv	G->C	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 976 ---639-0-1 Male Hemizygous FRANCE DCM 10 2993 ---639-1-1 Male Hemizygous FRANCE DCM 1 2994 ---639-2-1 Male Hemizygous FRANCE DCM 1 3525 ---639-3-1 Male Hemizygous FRANCE BMD 1 3572 ---639-4-1 Male Hemizygous FRANCE Asymptomatic 1
p.Lys18ArgfsX8	c.53delA	2	18	Actin binding domain		Small rearrangement	Fr.	Stop at 25	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2662 ---512-5-21 Male Hemizygous FRANCE BMD 106
	c.IVS2+1del5 (c.93+1del5)	2	31			Small rearrangement	Tv	del5	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2259 ---085-4-m1 Male Hemizygous FRANCE IMD 114
	c.IVS2-1G>A (c.94-1G>A)	3	32			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2650 ---452-2-41 Male Hemizygous FRANCE Pending 106 664 ---262-0-1 Male Hemizygous - BMD 10
	c.IVS2-2A>T (c.94-2A>T)	3	32			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1591 ---216-2-01 Male Hemizygous FRANCE Pending 100
	c.IVS3+1G>A (c.186+1G>A)	3	32			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 973 ---327-0-1 Male Hemizygous - DMD 1
p.Asn39LysfsX5	c.116dup	3	39	Actin binding domain		Small rearrangement	Fr.	Stop at 43	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1001 ---603-0-1 Male Hemizygous - DMD 10
p.Leu44ArgfsX46	c.127_130dup	3	44	Actin binding domain		Small rearrangement	Fr.	Stop at 89	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3330 ---876-0-1 Male Hemizygous FRANCE DMD 1
p.Asp46Val	c.137A>T	3	46	Actin binding domain		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3143 ---475-0-1 Male Hemizygous FRANCE BMD 1 3171 ---475-1-1 Male Hemizygous FRANCE BMD 1
p.Arg48GlufsX41	c.141dup	3	48	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3202 ---240-0-1 Male Hemizygous FRANCE DMD 1
p.Gln60AlafsX29	c.177dup	3	60	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3129 ---121-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS3-1G>C (c.187-1G>C)	4	63			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 851 ---062-0-1 Male Hemizygous - BMD 10
	c.IVS3-2A>G (c.187-2A>G)	4	63			Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2593 ---201-E-21 Male Hemizygous FRANCE BMD 114 2292 ---186-0-m1 Male Hemizygous FRANCE BMD 114 2297 ---201-0-41 Male Hemizygous FRANCE BMD 114
p.Glu65LysfsX10	c.193delG	4	65	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 671 ---081-0-1 Male Hemizygous - BMD 1
p.Lys66X	c.196A>T	4	66	Actin binding domain		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3491 ---753-0-1 Male Hemizygous FRANCE DMD 1
p.Gly67AspfsX8	c.198delA	4	66	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2382 ---302-6-11 Male Hemizygous FRANCE DMD 106
p.Gly67X	c.199G>T	4	67	Actin binding domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3102 ---118-0-1 Male Hemizygous FRANCE DMD 1
p.Ala80SerfsX9	c.238insA	4	80	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3142 ---030-0-1 Male Hemizygous FRANCE DMD 1
p.Gln85X	c.253C>T	4	85	Actin binding domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3026 ---591-0-1 Male Hemizygous - DMD 10 3150 ---040-0-1 Male Hemizygous FRANCE IMD 1 2445 ---040-1-1 Male Hemizygous FRANCE IMD 1
	c.IVS5+1G>A (c.357+1G>A)	5	119			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3101 ---718-1-1 Male Hemizygous FRANCE DMD 1
	c.IVS5+1G>C (c.357+1G>C)	5	119			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3100 ---718-0-1 Male Hemizygous FRANCE DMD 10
	c.IVS5-1G>A (c.358-1G>A)	6	120			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1932 ---061-4-41 Male Hemizygous FRANCE DMD 106
	c.IVS5-2A>G (c.358-2A>G)	6	120			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1604 ---254-4-41 Male Hemizygous FRANCE DMD 100
p.Val123delinsVal	c.368dup	6	123	Actin binding domain		Small rearrangement	Fr.	Ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3139 ---549-0-1 Male Hemizygous FRANCE DMD 1
p.Met124IlefsX18	c.372delG	6	124	Actin binding domain		Small rearrangement	Fr.	Stop at 141	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1091 ---033-0-1 Male Hemizygous - DMD 10
p.Ile127HisfsX10	c.379_380delAT	6	127	Actin binding domain		Small rearrangement	Fr.	Stop at 136	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3005 ---743-0-1 Male Hemizygous - BMD 1 3006 ---743-1-1 Male Hemizygous - BMD 1
p.Gln133X	c.397C>T	6	133	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2298 ---205-A-41 Male Hemizygous FRANCE DMD 114 2660 ---509-5-51 Male Hemizygous FRANCE Pending 106
p.Arg145X	c.433C>T	6	145	Actin binding domain		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1413 ---140-6-51 Male Hemizygous FRANCE DMD 100 2495 ---096-0-91 Male Hemizygous FRANCE DMD 106 2657 ---140-6-42 Female Heterozygous FRANCE Symptomatic carrier 106 2699 ---506-4-71 Male Hemizygous FRANCE DMD 106 2700 ---506-4-61 Male Hemizygous FRANCE DMD 106 3147 ---728-0-1 Male Hemizygous FRANCE DMD 1 3578 ---989-0-1 Male Hemizygous ALGERIA DMD 1
p.Ser147X	c.440C>A	6	147	Actin binding domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 639 ---066-0-1 Male Hemizygous - DMD 10
p.Gln153ThrfsX3	c.455dup	6	152	Actin binding domain		Small rearrangement	Fr.	Stop at 155	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3031 ---801-0-1 Male Hemizygous - DMD 10
p.Phe159HisfsX6	c.475_476delTT	6	159	Actin binding domain		Small rearrangement	Fr.	Stop at 164	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1362 ---745-0-1 Male Hemizygous GERMANY DMD 10
p.Thr161_Thr161del	c.482_484delCCA	6	161	Actin binding domain		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3007 ---714-0-1 Male Hemizygous FRANCE BMD 1
	c.IVS6+2T>C (c.530+2T>C)	6-7	177	Actin binding domain		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2761 ---508-5-41 Male Hemizygous FRANCE DMD 106
	c.IVS6-10T>A (c.531-10T>A)	6-7	177	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2768 ---349-9-22 Female Heterozygous FRANCE Symptomatic carrier 106
	c.IVS6-1G>T (c.531-1G>T)	6-7	177			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3154 ---175-0-1 Male Hemizygous FRANCE DMD 1 3410 ---175-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Gln189X	c.565C>T	7	189	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 966 ---626-0-1 Male Hemizygous FRANCE DMD 10
p.Gln190X	c.568C>T	7	190	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3118 ---818-0-1 Male Hemizygous FRANCE DMD 1
p.Ser191X	c.572C>G	7	191	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1504 ---021-3-81 Male Hemizygous FRANCE DMD 111
p.Gln194X	c.580C>T	7	194	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2285 ---174-0-31 Male Hemizygous FRANCE Pending 114
p.Arg195X	c.583C>T	7	195	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2245 ---044-1-m1 Male Hemizygous FRANCE BMD 114 2835 ---100-4-11 Male Hemizygous FRANCE DMD 1
p.Tyr205X	c.615T>A	7	205	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 679 ---551-0-1 Male Hemizygous INDIA DMD 10
p.Glu216X	c.644dup	7	215	Actin binding domain		Small rearrangement	Fr.	Stop at 216	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2258 ---084-C-11 Male Hemizygous FRANCE DMD 114
	c.IVS7+2T>C (c.649+2T>C)	7-8	217			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3151 ---414-0-1 Male Hemizygous - BMD 1
p.Val218Gly	c.653T>G	8	218	Actin binding domain		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3583 ---999-0-1 Male Hemizygous FRANCE BMD 1
p.Lys226del	c.676_678delAAG	8	226	Actin binding domain		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1363 ---746-0-1 Male Hemizygous - BMD 1 2108 ---937-0-1 Male Hemizygous SPAIN BMD 1
p.Met230SerfsX14	c.689delT	8	230	Actin binding domain		Small rearrangement	Fr.	Stop at 243	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3004 ---701-0-1 Male Hemizygous - DMD 10
p.Gln249X	c.745C>T	8	249			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2270 ---142-D-11 Male Hemizygous FRANCE DMD 114
p.Gln277His	c.831G>T	8	277	CRD-hinge region #1		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2512 ---523-I-71 Male Hemizygous FRANCE BMD 121 2513 ---523-R-91 Male Hemizygous FRANCE BMD 121
p.Arg295X	c.883C>T	9	295	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2929 ---125-0-1 Male Hemizygous FRANCE BMD 1
p.Lys297GlnfsX15	c.887dup	9	296	CRD-hinge region #1		Small rearrangement	Fr.	Stop at 311	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2279 ---153-7-A1 Male Hemizygous FRANCE DMD 114
p.Tyr301X	c.903C>A	9	301	CRD-hinge region #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2362 ---243-3-71 Male Hemizygous FRANCE DMD 100
p.Gln303X	c.907C>T	9	303	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3091 ---178-0-1 Male Hemizygous - BMD 1
p.Ser319X	c.956C>G	9	319	CRD-hinge region #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1415 ---159-9-81 Male Hemizygous FRANCE DMD 100
p.Leu322X	c.965T>A	10	322	CRD-hinge region #1		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3037 ---088-0-2 Male Hemizygous FRANCE DMD 10
p.Glu326X	c.976G>T	10	326	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3550 ---058-0-1 Male Hemizygous FRANCE DMD 1
p.Ser329X	c.986C>G	10	329	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3094 ---026-0-1 Male Hemizygous - DMD 1
p.Ser333X	c.998C>A	10	333	CRD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1297 ---280-0-1 Male Hemizygous FRANCE DMD 10 1298 ---280-1-1 Male Hemizygous FRANCE DMD 1
p.Gln365X	c.1093C>T	10	365	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1416 ---163-9-51 Male Hemizygous FRANCE DMD 100
p.Glu373ThrfsX10	c.1117_1129del	10	373	CRD-repeat #1		Small rearrangement	Fr.	Stop at 382	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2654 ---456-2-51 Male Hemizygous FRANCE DMD 106
p.Gly403X	c.1207G>T	11	403	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3477 ---949-0-1 Male Hemizygous FRANCE DMD 1
p.Lys411X	c.1231A>T	11	411	CRD-repeat #1		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3476 ---722-0-1 Male Hemizygous FRANCE DMD 1
p.Leu412TyrfsX13	c.1235delT	11	412	CRD-repeat #1		Small rearrangement	Fr.	Stop at 424	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3137 ---762-0-1 Male Hemizygous FRANCE DMD 1
p.Ser413X	c.1238C>A	11	413	CRD-repeat #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2269 ---137-0-11 Male Hemizygous FRANCE DMD 114
p.Gln421X	c.1261C>T	11	421	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2251 ---072-0-31 Male Hemizygous FRANCE DMD 114
p.Ser429X	c.1286C>G	11	429	CRD-repeat #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3061 ---760-0-1 Male Hemizygous - DMD 1
p.Trp431X	c.1292G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 709 ---505-0-1 Male Hemizygous FRANCE DMD 10
p.Trp431X	c.1293G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2355 ---360-8-51 Male Hemizygous FRANCE DMD 106 3213 ---802-0-2 Female Heterozygous - Symptomatic carrier 1
p.Glu432GlyfsX7	c.1294dup	11	432	CRD-repeat #1		Small rearrangement	Fr.	Stop at 438	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3015 ---571-0-1 Male Hemizygous - DMD 10
	c.IVS11+1G>T (c.1331+1G>T)	11-12	444			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3028 ---408-0-1 Male Hemizygous - DMD 10 3149 ---121-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS11-9A>G (c.1332-9A>G)	11-12	444			Small rearrangement	Ts	A->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1701 ---082-0-1 Male Hemizygous FRANCE DMD 10 3108 ---804-0-1 Male Hemizygous - DMD 1 3248 ---082-1-1 Male Hemizygous FRANCE DMD 1 3249 ---082-2-1 Male Hemizygous FRANCE DMD 1
p.Asp451Tyr	c.1351G>T	12	451	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3573 ---027-0-1 Male Hemizygous FRANCE BMD 1
p.Trp463X	c.1388G>A	12	463	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1417 ---189-2-71 Male Hemizygous FRANCE DMD 100
p.Glu476GlyfsX7	c.1426dup	12	476	CRD-repeat #2		Small rearrangement	Fr.	Stop at 482	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2369 ---095-F-51 Male Hemizygous FRANCE DMD 114
p.Gln492X	c.1474C>T	12	492	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3484 ---364-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
	c.IVS12+1G>T (c.1482+1G>T)	12	494			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1477 ---287-6-21 Male Hemizygous FRANCE DMD 106
	c.IVS12-1G>C (c.1483-1G>C)	13	495			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3203 ---091-0-1 Male Hemizygous - BMD 1
	c.IVS13+1G>A (c.1602+1G>A)	13	495			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 959 ---230-0-1 Male Hemizygous FRANCE BMD 10
p.Val515GlyfsX4	c.1543dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3128 ---864-0-1 Male Hemizygous FRANCE DMD 1
p.Val516GlyfsX3	c.1544dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1638 ---352-8-91 Male Hemizygous FRANCE DMD 106
	c.IVS13+1G>T (c.1602+1G>T)	13	534			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2653 ---471-3-01 Male Hemizygous FRANCE BMD 106
	c.IVS13-1G>A (c.1603-1G>A)	14	535			Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2596 ---CM2-C-41 Male Hemizygous BELGIUM DCM 106 2597 ---CM2-C-51 Male Hemizygous BELGIUM DCM 106 2595 ---CM2-0-41 Male Hemizygous BELGIUM DCM 106
	c.IVS13-2A>C (c.1603-2A>C)	14	535			Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1582 ---197-1-61 Male Hemizygous FRANCE BMD 124
p.Arg539X	c.1615C>T	14	539	CRD-repeat #2		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1418 ---236-3-11 Male Hemizygous FRANCE DMD 100 2644 ---236-7-92 Female Heterozygous FRANCE Symptomatic carrier 106 2238 ---023-A-41 Male Hemizygous FRANCE DMD 114 2239 ---023-A-81 Male Hemizygous FRANCE DMD 114
p.Asn542ThrfsX41	c.1625delA	14	542	CRD-repeat #2		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3138 ---401-0-1 Male Hemizygous FRANCE DMD 1
p.Trp551X	c.1653G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3452 ---935-0-1 Male Hemizygous FRANCE DMD 1
p.Trp561X	c.1683G>A	14	561	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3030 ---802-0-1 Male Hemizygous SPAIN DMD 10
p.Gln562AsnfsX21	c.1684delC	14	562	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2025 ---315-7-01 Male Hemizygous FRANCE DMD 106
	c.IVS14+1G>T (c.1704+1G>T)	14	568			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3090 ---795-0-1 Male Hemizygous SWITZERLAND BMD 1
p.Phe571LeufsX12	c.1713delT	15	571	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3116 ---768-0-1 Male Hemizygous FRANCE DMD 1 3450 ---768-1-1 Male Hemizygous FRANCE DMD 1
p.Ser576GlnfsX7	c.1726delT	15	576	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 708 ---250-0-1 Male Hemizygous - DMD 10
p.Thr588LeufsX19	c.1762delA	15	588	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1479 ---289-6-61 Male Hemizygous FRANCE DMD 106
p.Phe590Arg	c.[1768T>C; 1769T>G]	15	590	CRD-repeat #3		Small rearrangement	Ts/Tv	T->C/T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3516 ---981-0-1 Male Hemizygous FRANCE DMD 1
p.Lys591CysfsX11	c.1771_1786del	15	591	CRD-repeat #3		Small rearrangement	Fr.	Stop at 601	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3517 ---981-0-1 Male Hemizygous FRANCE DMD 1
p.Lys602AsnfsX5	c.1806delA	15	602	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2659 ---499-4-51 Male Hemizygous FRANCE Pending 106
p.Val605PhefsX2	c.1812delC	15	604	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1445 ---190-1-81 Male Hemizygous FRANCE DMD 100
p.Leu606X	c.1817T>G	16	606	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3087 ---772-0-1 Male Hemizygous - DMD 1
p.Lys613GlufsX22	c.1835dup	16	612	CRD-repeat #3		Small rearrangement	Fr.	Stop at 634	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2910 ---129-0-1 Male Hemizygous FRANCE DMD 1
p.Gly618GlnfsX16	c.1852_1853delGG	16	618	CRD-repeat #3		Small rearrangement	Fr.	Stop at 633	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3092 ---769-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr621PhefsX13	c.1860_1861delGT	16	620	CRD-repeat #3		Small rearrangement	Fr.	Stop at 633	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1736 ---245-1-4651 Male Hemizygous FRANCE DMD 116
p.Lys660GlufsX59	c.1978_1979delAA	16	660	CRD-repeat #3		Small rearrangement	Fr.	Stop at 718	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2623 ---433-3-61 Male Hemizygous FRANCE DMD 106 989 ---841-0-1 Male Hemizygous - Pending 1
p.Gln664X	c.1990C>T	16	664	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3034 ---800-0-1 Male Hemizygous FRANCE DMD 10
p.Gln667X	c.1999C>T	17	667	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3103 ---272-0-1 Male Hemizygous FRANCE DMD 1
p.Gln673X	c.2017C>T	17	673	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2710 ---822-4-8081 Male Hemizygous FRANCE DMD 116
p.Gln673AsnfsX43	c.2017_2027del	17	673	CRD-hinge region #2		Small rearrangement	Fr.	Stop at 715	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3146 ---089-0-1 Male Hemizygous FRANCE DMD 1
p.Glu692GlyfsX28	c.2074dup	17	692	CRD-hinge region #2		Small rearrangement	Fr.	Stop at 719	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2284 ---171-8-m1 Male Hemizygous FRANCE DMD 114
p.Gln713X	c.2137C>T	17	713	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3271 ---921-0-1 Male Hemizygous FRANCE DMD 1
p.Arg737ProfsX23	c.2210delG	18	737	CRD-repeat #4		Small rearrangement	Fr.	Stop at 759	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2267 ---125-7-m1 Male Hemizygous FRANCE DMD 114
p.Gln743X	c.2227C>T	18	743	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2255 ---077-0-m1 Male Hemizygous FRANCE DMD 114 2913 ---104-0-1 Male Hemizygous FRANCE DMD 1 2915 ---104-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Pro745X	c.2230_2231delAG	18	744	CRD-repeat #4		Small rearrangement	Fr.	Stop at 745	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1447 ---027-1-41 Male Hemizygous FRANCE DMD 102
p.Phe756LeufsX6	c.2268_2299del	18	756	CRD-repeat #4		Small rearrangement	Fr.	Stop at 761	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3337 ---582-0-1 Male Hemizygous FRANCE DMD 1
p.Glu761X	c.2281G>T	18	761	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1642 ---083-5-71 Male Hemizygous FRANCE DMD 106
p.Glu761LysfsX5	c.2281_2284delGAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 688 ---103-0-1 Male Hemizygous FRANCE DMD 10
p.Glu761SerfsX10	c.2281_2285delGAAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 770	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3114 ---727-0-1 Male Hemizygous - DMD 1
	c.IVS18-1G>T (c.2293-1G>T)	19	765			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1508 ---025-0-21 Male Hemizygous FRANCE DMD 111
	c.IVS18-5del7a (c.2293-5del7a)	19	765			Small rearrangement	Tv	del7a	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3223 ---089-0-1 Male Hemizygous FRANCE DMD 1
p.Arg768X	c.2302C>T	19	768	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1419 ---259-5-41 Male Hemizygous FRANCE DMD 100 1506 ---037-0-31 Male Hemizygous FRANCE DMD 111 3549 ---449-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Glu772X	c.2314G>T	19	772	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2766 ---511-5-11 Male Hemizygous FRANCE DMD 106
p.Arg782SerfsX14	c.2346insTTTTCTGC	19	782	CRD-repeat #4		Small rearrangement	Fr.	Stop at 795	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3352 ---887-0-1 Male Hemizygous ARGENTINA BMD 1 3354 ---887-1-1 Male Hemizygous ARGENTINA BMD 1
p.Arg782SerfsX8	c.2346_2359del	19	782	CRD-repeat #4		Small rearrangement	Fr.	Stop at 789	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2310 ---887-0-1 Male Hemizygous ARGENTINA BMD 1 3353 ---887-1-1 Male Hemizygous ARGENTINA BMD 1
p.Gln790X	c.2368C>T	19	790	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2268 ---130-E-21 Male Hemizygous FRANCE DMD 114
p.Asn793Ser	c.2378A>G	19	793	CRD-repeat #4		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3494 ---315-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS19-2A>G (c.2381-2A>G)	19-20	794			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2607 ---051-1-m1 Male Hemizygous FRANCE BMD 114
p.Gln803X	c.2407C>T	20	803	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 ---825-0-1 Male Hemizygous - DMD 1
p.Ser820ArgfsX25	c.2457_2460delAAGT	20	819	CRD-repeat #4		Small rearrangement	Fr.	Stop at 844	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1671 ---367-8-21 Male Hemizygous FRANCE DMD 106
p.Asn824X	c.2469dup	20	824	CRD-repeat #4		Small rearrangement	Fr.	Stop at 824	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2391 ---065-2-A1 Male Hemizygous FRANCE DMD 114
p.Gln841X	c.2521C>T	20	841	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1039 ---573-0-1 Male Hemizygous FRANCE DMD 10
p.Gln844X	c.2530C>T	20	844	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3115 ---836-0-1 Male Hemizygous FRANCE DMD 1
p.Leu853PhefsX2	c.2557_2558dup	20	853	CRD-repeat #5		Small rearrangement	Fr.	Stop at 854	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 ---922-0-1 Male Hemizygous SPAIN DMD 1
p.Leu853X	c.2558T>A	20	853	CRD-repeat #5		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1420 ---239-4-11 Male Hemizygous FRANCE DMD 100
p.Lys854AsnfsX13	c.2559_2560delGA	20	853	CRD-repeat #5		Small rearrangement	Fr.	Stop at 866	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3245 ---922-0-1 Male Hemizygous SPAIN DMD 1
	c.IVS20+1G>A (c.2622+1G>A)	20	874			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3093 ---538-0-1 Male Hemizygous - DMD 1
	c.IVS20+2T>G (c.2622+2T>G)	20	874			Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2290 ---184-0-61 Male Hemizygous FRANCE DMD 114
p.Leu880MetfsX16	c.2624_2637dup	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 895	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3113 ---764-0-1 Male Hemizygous FRANCE DMD 1
p.Leu880TyrfsX11	c.2638delC	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 890	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 ---361-0-1 Male Hemizygous - DMD 10
p.Gly901X	c.2701G>T	21	901	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 961 ---554-0-1 Male Hemizygous FRANCE DMD 10
p.Gly903AspfsX46	c.2706delA	21	902	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2701 ---075-d-281 Male Hemizygous FRANCE DMD 113 1610 ---283-5-81 Male Hemizygous FRANCE DMD 106
p.Val921SerfsX28	c.2761delG	21	921	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3132 ---874-0-2 Female Heterozygous - Symptomatic carrier 1 3133 ---874-0-1 Male Hemizygous - DMD 1
	c.IVS21-2A>C (c.2804-2A>C)	21-22	935			Small rearrangement	Tv	A->C	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1571 ---176-0-31 Male Hemizygous FRANCE DMD 100 980 ---670-0-1 Male Hemizygous FRANCE DMD 10 3575 ---670-1-1 Male Hemizygous FRANCE DMD 1 3576 ---670-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
	c.IVS21-2A>T (c.2804-2A>T)	21-22	935			Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2809 ---664-0-1 Male Hemizygous - DMD 10 2965 ---664-0-1 Male Hemizygous - DMD 10 3557 ---055-0-1 Male Hemizygous FRANCE DMD 1
p.Leu939AlafsX29	c.2815_2816delTT	22	939	CRD-repeat #6		Small rearrangement	Fr.	Stop at 967	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1636 ---329-7-91 Male Hemizygous FRANCE DMD 106
p.Gln945X	c.2833C>T	22	945	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2383 ---309-7-21 Male Hemizygous FRANCE DMD 106
p.Gln957X	c.2869C>T	22	957	CRD-repeat #6		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2295 ---192-8-m1 Male Hemizygous FRANCE DMD 114 2534 ---424-1-91 Male Hemizygous FRANCE DMD 106
p.Gln977ProfsX37	c.2929dup	22	977	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1013	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3262 ---928-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS22+1G>T (c.2949+1G>T)	22	983			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1562 ---276-5-91 Male Hemizygous FRANCE DMD 100 3038 ---762-0-1 Male Hemizygous - DMD 10 3447 ---575-0-1 Male Hemizygous FRANCE DMD 1
	c.2955_2972delinsTT	23	985	CRD-repeat #6		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2715 ---188-0-m1 Male Hemizygous FRANCE DMD 114
p.Gln990X	c.2968C>T	23	990	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2771 ---262-3-11 Male Hemizygous FRANCE DMD 106
p.Tyr997X	c.2991C>G	23	997	CRD-repeat #6		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2256 ---080-6-m1 Male Hemizygous FRANCE DMD 114 2257 ---080-6-m1 Male Hemizygous FRANCE DMD 114
p.Lys1004ArgfsX9	c.3011_3012delAA	23	1004	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1012	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3270 ---926-0-1 Male Hemizygous FRANCE BMD 1
p.Ser1012LeufsX32	c.3033delC	23	1011	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1043	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 968 ---572-0-1 Male Hemizygous - DMD 10
p.Glu1021X	c.3061G>T	23	1021	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2361 ---211-3-61 Male Hemizygous FRANCE DMD 100
p.Glu1026X	c.3076G>T	23	1026	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3295 ---756-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1051X	c.3151C>T	23	1051	CRD-repeat #7		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1655 ---316-7-41 Male Hemizygous FRANCE DMD 106 3386 ---128-0-1 Male Hemizygous FRANCE DMD 1 3425 ---166-0-1 Male Hemizygous FRANCE DMD 1
p.Ile1053PhefsX8	c.3157delA	23	1053	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1060	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2386 ---325-7-01 Male Hemizygous BELGIUM DMD 106
p.Lys1086SerfsX3	c.3257delA	24	1086	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1088	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 957 ---049-0-1 Male Hemizygous - DMD 10
p.Lys1089AsnfsX9	c.3267insC	24	1089	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1097	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1446 ---099-6-71 Male Hemizygous FRANCE DMD 102
	c.IVS24+1G>A (c.3276+1G>A)	24	1092			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1294 ---653-0-1 Male Hemizygous - DMD 1
	c.IVS24-1G>T (c.3277-1G>T)	25	1093			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3071 ---787-0-1 Male Hemizygous - BMD 1
p.Ser1104GlnfsX7	c.3309dup	25	1104	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1110	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3449 ---968-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1113X	c.3337C>T	25	1113	CRD-repeat #7		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3070 ---785-0-1 Male Hemizygous FRANCE BMD 1 3072 ---785-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Lys1116MetfsX36	c.3347_3350delAGAA	25	1116	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1151	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2669 ---068-0-01 Male Hemizygous FRANCE DMD 110
p.Glu1133X	c.3397G>T	25	1133	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1584 ---200-1-31 Male Hemizygous FRANCE DMD 106
p.Gln1143X	c.3427C>T	25	1143	CRD-repeat #7		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1422 ---154-9-61 Male Hemizygous FRANCE DMD 100
p.Val1160LysfsX17	c.3478_3479delGT	26	1160	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1176	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1448 ---152-9-31 Male Hemizygous FRANCE DMD 105
p.Ser1167X	c.3500_3501delCA	26	1167	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1167	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1480 ---291-6-91 Male Hemizygous FRANCE Pending 106
p.Glu1179X	c.3535G>T	26	1179	CRD-repeat #8		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2626 ---442-2-71 Male Hemizygous FRANCE DMD 106 3104 ---113-1-1 Male Hemizygous FRANCE Pending 1 3105 ---113-0-1 Male Hemizygous FRANCE DMD 1 3397 ---113-2-1 Male Hemizygous FRANCE Pending 1 3398 ---113-3-1 Male Hemizygous FRANCE Pending 1
p.Asp1184ValfsX2	c.3551_3552delAT	26	1184	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1185	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2846 ---250-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1194X	c.3580C>T	26	1194	CRD-repeat #8		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2273 ---146-A-11 Male Hemizygous FRANCE DMD 114 3201 ---916-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS26+2insT (c.3603+2insT)	26	1201			Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2569 ---437-1-71 Male Hemizygous FRANCE BMD 106
	c.IVS26+2T>A (c.3603+2T>A)	26	1201			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ---131-9-71 Male Hemizygous FRANCE DMD 105
	c.IVS26+3A>T (c.3603+3A>T)	26	1201			Small rearrangement	Tv	A->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2275 ---148-1-m1 Male Hemizygous FRANCE BMD 114 2897 ---249-0-1 Male Hemizygous FRANCE BMD 1 2898 ---249-1-1 Male Hemizygous FRANCE BMD 1 2899 ---249-2-1 Male Hemizygous FRANCE BMD 1 2900 ---249-3-1 Male Hemizygous FRANCE BMD 1
	c.IVS26+3insT (c.3603+3insT)	26	1201			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1295 ---038-0-1 Male Hemizygous - BMD 10 3474 ---185-0-1 Male Hemizygous FRANCE BMD 1
p.Leu1236X	c.3707T>A	27	1236	CRD-repeat #8		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3406 ---113-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Trp1249X	c.3746G>A	27	1249	CRD-repeat #8		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1615 ---317-7-21 Male Hemizygous FRANCE DMD 106
p.Lys1257AsnfsX26	c.3768delG	27	1256	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1282	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2306 ---231-7-A1 Male Hemizygous FRANCE DMD 114 2307 ---231-8-A1 Male Hemizygous FRANCE DMD 114
p.Cys1258AspfsX11	c.3772_3776delTGCAA	27	1258	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1268	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3385 ---461-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr1274X	c.3822C>A	28	1274	CRD-repeat #9		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3068 ---620-0-1 Male Hemizygous - BMD 1
p.Asn1283LysfsX3	c.3849delT	28	1283	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1285	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3486 ---108-0-1 Male Hemizygous FRANCE DMD 1 3487 ---108-1-1 Male Hemizygous FRANCE DMD 1
p.Lys1288AsnfsX19	c.3864delA	28	1288	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1306	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1449 ---214-2-21 Male Hemizygous FRANCE DMD 100
p.Leu1306AlafsX5	c.3914dup	28	1305	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1310	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 861 ---246-0-1 Male Hemizygous FRANCE DMD 10
p.Leu1312X	c.3935T>A	29	1312	CRD-repeat #9		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1590 ---212-2-21 Male Hemizygous FRANCE BMD 106
p.Arg1314X	c.3940C>T	29	1314	CRD-repeat #9		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2656 ---346-4-31 Male Hemizygous FRANCE Pending 106 1629 ---346-8-71 Male Hemizygous FRANCE BMD 106 728 ---357-0-1 Male Hemizygous FRANCE BMD 1
p.Ser1316X	c.3947_3948delCA	29	1316	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1316	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2370 ---096-2-m1 Male Hemizygous FRANCE DMD 114
	c.IVS29+1G>A (c.4071+1G>A)	29	1357			Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2248 ---054-D-21 Male Hemizygous FRANCE BMD 114 2249 ---054-D-31 Male Hemizygous FRANCE BMD 114 2250 ---054-D-41 Male Hemizygous FRANCE BMD 114
	c.IVS29+2T>A (c.4071+2T>A)	29	1357			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1296 ---146-0-1 Male Hemizygous FRANCE BMD 10
	c.IVS29+2T>C (c.4071+2T>C)	29	1357			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3145 ---020-0-1 Male Hemizygous - BMD 1
p.Gln1362X	c.4084C>T	30	1362	CRD-repeat #9		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3141 ---520-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1370X	c.4108C>T	30	1370	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1423 ---223-3-71 Male Hemizygous FRANCE DMD 100
p.Glu1376TyrfsX3	c.4126_4135del	30	1376	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1378	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2601 ---139-5-01 Male Hemizygous FRANCE DMD 106
p.Gln1383X	c.4147C>T	30	1383	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2022 ---380-9-41 Male Hemizygous FRANCE DMD 106
p.Leu1417X	c.4250T>A	31	1417	CRD-repeat #10		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1575 ---182-0-61 Male Hemizygous FRANCE BMD 124
p.Gln1432X	c.4294C>T	31	1432	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3121 ---849-0-1 Male Hemizygous - BMD 1
p.Ile1444MetfsX12	c.4332_4335delTGAT	31	1444	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1455	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3069 ---770-0-1 Male Hemizygous - DMD 1
	c.IVS32+1G>A (c.4518+1G>A)	32	1506			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1576 ---183-0-71 Male Hemizygous FRANCE DMD 100
	c.IVS32-3del7 (c.4519-3del7)	33	1507			Small rearrangement	Tv	del7	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1089 ---135-0-1 Male Hemizygous - BMD 10 1090 ---135-1-1 Male Hemizygous - BMD 1
	c.IVS32-5C>G (c.4519-5C>G)	33	1507			Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2293 ---189-2-m1 Male Hemizygous FRANCE BMD 114 2294 ---189-0-81 Male Hemizygous FRANCE BMD 114 1609 ---282-5-21 Male Hemizygous FRANCE BMD 124
p.Tyr1509X	c.4527T>A	33	1509	CRD-repeat #11		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3120 ---804-0-1 Male Hemizygous FRANCE DMD 1
p.Ser1513LysfsX2	c.4538_4541delGTGA	33	1513	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1514	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3107 ---063-0-1 Male Hemizygous - DMD 1 3508 ---240-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Leu1548X	c.4643delT	33	1548	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1548	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2303 ---223-6-m1 Male Hemizygous FRANCE DMD 114
p.Val1559X	c.4675delG	34	1559	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1559	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3467 ---915-0-1 Male Hemizygous FRANCE DMD 1
p.Lys1571X	c.4711A>T	34	1571	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2277 ---150-A-11 Male Hemizygous FRANCE DMD 114 2278 ---150-A-21 Male Hemizygous FRANCE DMD 114
p.Lys1575X	c.4723A>T	34	1575	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3401 ---963-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1577X	c.4729C>T	34	1577	CRD-repeat #12		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2647 ---429-1-81 Male Hemizygous FRANCE DMD 106 2291 ---185-6-MA1 Male Hemizygous FRANCE DMD 114
p.Glu1593X	c.4777G>T	34	1593	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1424 ---116-7-91 Male Hemizygous FRANCE DMD 100
	c.4780_4780delinsGAGATCATATCTGTCATATGATCATATCTTTGTCATA	34	1594	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2704 ---143-8-41 Male Hemizygous FRANCE DMD 106
p.Glu1601X	c.4800_4801delinsGT	34	1600	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2714 ---151-2-m1 Male Hemizygous FRANCE DMD 114
p.Gly1614GlufsX15	c.4841delG	34	1614	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1450 ---221-4-81 Male Hemizygous FRANCE DMD 100
	c.IVS34+2T>C (c.4845+2T>C)	34	1615			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3566 ---914-0-1 Male Hemizygous FRANCE BMD 1
p.Gln1618X	c.4852C>T	35	1618	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2261 ---092-8-m1 Male Hemizygous FRANCE DMD 114
p.Glu1620ArgfsX9	c.4857delA	35	1619	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1451 ---220-3-91 Male Hemizygous FRANCE DMD 105
p.Gln1624X	c.4870C>T	35	1624	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2276 ---149-B-21 Male Hemizygous FRANCE DMD 114
p.Glu1633GlyfsX19	c.4898_4899delAG	35	1633	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1651	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1452 ---215-2-01 Male Hemizygous FRANCE DMD 100
p.Thr1640GlnfsX17	c.4918delA	35	1640	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1656	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1453 ---122-8-71 Male Hemizygous FRANCE Pending 100
p.Leu1642PhefsX11	c.4925dup	35	1642	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1652	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 682 ---368-0-1 Male Hemizygous FRANCE BMD 1
p.Lys1652X	c.4954A>T	35	1652	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3293 ---943-0-1 Male Hemizygous INDIA DMD 1
p.Trp1660X	c.4980delG	35	1660	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1660	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 678 ---376-0-1 Male Hemizygous - DMD 10
p.Arg1666X	c.4996C>T	35	1666	CRD-repeat #12		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1425 ---275-5-81 Male Hemizygous FRANCE DMD 100 1426 ---057-3-61 Male Hemizygous FRANCE DMD 100 2252 ---074-0-71 Male Hemizygous FRANCE DMD 114 3153 ---060-2-1 Male Hemizygous FRANCE DMD 1 3393 ---060-0-1 Male Hemizygous FRANCE DMD 1 2403 ---060-1-1 Male Hemizygous FRANCE DMD 1
p.Trp1694X	c.5082G>A	36	1694	CRD-repeat #13		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3443 ---015-0-1 Male Hemizygous FRANCE DMD 1
p.Glu1714LysfsX7	c.5139delA	36	1713	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1454 ---258-4-41 Male Hemizygous FRANCE DMD 100
p.Glu1714LysfsX7	c.5140delG	36	1714	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2246 ---116-7-A1 Male Hemizygous FRANCE DMD 114
	c.IVS36+1G>A (c.5154+1G>A)	36	1718			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 637 ---384-0-1 Male Hemizygous - BMD 10
p.Ile1757SerfsX24	c.5269delA	37	1757	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1780	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3119 ---125-0-1 Male Hemizygous - DMD 1 3158 ---125-1-1 Male Hemizygous - DMD 1 3159 ---125-2-1 Male Hemizygous - DMD 1
p.Ser1758ArgfsX14	c.5272_5273delTC	37	1758	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1771	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3022 ---147-0-1 Male Hemizygous - DMD 10
p.Arg1763X	c.5287C>T	37	1763	CRD-repeat #13		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1710 ---C16-8-6261 Male Hemizygous FRANCE Pending 116 963 ---479-0-1 Male Hemizygous - BMD 1 1771 ---036-0-1 Male Hemizygous - BMD 1 3396 ---324-0-1 Male Hemizygous FRANCE BMD 1
p.Ser1768TyrfsX6	c.5299_5302dup	37	1768	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1773	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2387 ---326-7-41 Male Hemizygous BELGIUM DMD 106
p.Lys1772X	c.5314A>T	37	1772	CRD-repeat #13		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1427 ---158-9-31 Male Hemizygous FRANCE Pending 100
p.Gln1803X	c.5407C>T	38	1803	CRD-repeat #14		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2450 ---392-0-21 Male Hemizygous FRANCE BMD 106 2840 ---841-0-1 Male Hemizygous FRANCE BMD 1
p.Val1805X	c.5413delG	38	1805	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2247 ---052-A-61 Male Hemizygous FRANCE DMD 114
p.Asn1813IlefsX3	c.5434_5437dup	38	1813	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1815	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1618 ---313-7-91 Male Hemizygous FRANCE DMD 106
p.Leu1827X	c.5480T>A	39	1827	CRD-repeat #14		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2762 ---461-3-91 Male Hemizygous FRANCE BMD 106
p.Gly1831ArgfsX10	c.5487_5488delAA	39	1829	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1840	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3160 ---076-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1844X	c.5530A>T	39	1844	CRD-repeat #14		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1669 ---384-9-81 Male Hemizygous FRANCE Pending 106 3252 ---787-0-1 Male Hemizygous SWITZERLAND DMD 1
p.Gln1851X	c.5551C>T	39	1851	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3404 ---312-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1851SerfsX14	c.5551delC	39	1851	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1864	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1455 ---134-8-21 Male Hemizygous FRANCE DMD 105
p.Gln1855AspfsX4	c.5563_5564delCA	39	1855	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1858	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3077 ---578-0-1 Male Hemizygous - IMD 1 3078 ---578-0-2 Female Heterozygous - Pending 1
p.Thr1856AsnfsX8	c.5565_5568delGACA	39	1855	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1456 ---234-3-41 Male Hemizygous FRANCE DMD 100
p.Arg1868GlufsX5	c.5602_5605delAGAA	40	1868	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1872	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3136 ---015-0-1 Male Hemizygous - DMD 1 3152 ---048-0-1 Male Hemizygous FRANCE DMD 1 3212 ---554-0-1 Male Hemizygous - DMD 10
p.Lys1870X	c.5608A>T	40	1870	CRD-repeat #14		Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2695 ---479-5-91 Male Hemizygous FRANCE DMD 106 3148 ---851-0-2 Female Heterozygous - Symptomatic carrier 1 3451 ---823-0-1 Male Hemizygous GERMANY DMD 1
p.Trp1879X	c.5637G>A	40	1879	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 681 ---547-0-1 Male Hemizygous U.S.A. DMD 10
p.Gln1885X	c.5653C>T	40	1885	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2579 ---383-9-71 Male Hemizygous FRANCE DMD 106
p.Lys1899AsnfsX2	c.5697delA	40	1899	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1900	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2289 ---181-3-m1 Male Hemizygous FRANCE DMD 114
	c.IVS40-2A>G (c.5740-2A>G)	41	1914			Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 972 ---603-0-1 Male Hemizygous - BMD 10 3063 ---977-1-1 Male Hemizygous FRANCE BMD 1 3554 ---977-0-1 Male Hemizygous FRANCE BMD 1
	c.IVS40-2A>T (c.5740-2A>T)	41	1914			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 958 ---641-0-1 Male Hemizygous - BMD 10
p.Lys1923GlyfsX7	c.5766_5770delGAAAG	41	1922	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 ---074-0-1 Male Hemizygous - DMD 10
p.Lys1923ArgfsX3	c.5768_5771delAAGA	41	1923	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1925	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2918 ---937-0-1 Male Hemizygous SPAIN DMD 1
p.Arg1967X	c.5899C>T	41	1967	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1666 ---308-6-71 Male Hemizygous FRANCE DMD 106
	c.IVS41+2T>C (c.5922+2T>C)	41	1974			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2995 ---733-0-1 Male Hemizygous - BMD 10
p.Thr1986ArgfsX17	c.5957_5958delCT	42	1986	CRD		Small rearrangement	Fr.	Stop at 2002	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2242 ---039-7-m1 Male Hemizygous FRANCE DMD 114
p.Pro1990LeufsX12	c.5969delC	42	1990	CRD		Small rearrangement	Fr.	Stop at 2001	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3060 ---812-0-1 Male Hemizygous FRANCE DMD 1 3558 ---812-1-1 Male Hemizygous FRANCE DMD 1
p.Gln2080X	c.6238C>T	43	2080	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 683 ---448-0-1 Male Hemizygous FRANCE DMD 10
p.Trp2085X	c.6255G>A	43	2085	CRD-repeat #16		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2244 ---043-B-71 Male Hemizygous FRANCE DMD 114 3342 ---948-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr2092X	c.6276C>G	43	2092	CRD-repeat #16		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1428 ---196-1-71 Male Hemizygous FRANCE DMD 100
p.Arg2095X	c.6283C>T	43	2095	CRD-repeat #16		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1429 ---269-6-51 Male Hemizygous FRANCE Pending 100 670 ---287-0-1 Male Hemizygous - DMD 10
	c.IVS43+1G>T (c.6290+1G>T)	43-44	2097			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2308 ---233-6-m1 Male Hemizygous FRANCE DMD 114
	c.IVS43+2T>C (c.6290+2T>C)	43-44	2097			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3035 ---172-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS43+5del1 (c.6290+5del1)	43-44	2097			Small rearrangement	Tv	del1	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2834 ---543-0-1 Male Hemizygous - BMD 10 2990 ---543-0-1 Male Hemizygous - BMD 10
p.Arg2098X	c.6292C>T	44	2098	CRD-repeat #16		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2712 ---486-4-01 Male Hemizygous FRANCE DMD 106 1724 ---385-0-1 Male Hemizygous - DMD 10 3338 ---913-0-1 Male Hemizygous BRAZIL DMD 1 3540 ---786-0-1 Male Hemizygous FRANCE DMD 1
p.Glu2122X	c.6364G>T	44	2122	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 794 ---430-0-1 Male Hemizygous FRANCE DMD 10
	c.IVS44-1G>A (c.6439-1G>A)	45	2147			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3445 ---880-0-1 Male Hemizygous FRANCE Pending 1 3446 ---880-1-1 Male Hemizygous FRANCE Pending 1
	c.IVS44-2A>G (c.6439-2A>G)	45	2147			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3032 ---675-0-1 Male Hemizygous FRANCE BMD 10
p.Leu2185PhefsX38	c.6554dup	45	2185	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2222	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3269 ---926-0-1 Male Hemizygous FRANCE DMD 1 3350 ---926-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Arg2205GlufsX18	c.6611dup	45	2204	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2222	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3373 ---938-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS45+1G>A (c.6614+1G>A)	45-46	2205			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3085 ---675-0-2 Female Heterozygous - Symptomatic carrier 1
p.Gly2241GlufsX6	c.6720delT	46	2240	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2246	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 962 ---544-0-1 Male Hemizygous - DMD 10
p.Gln2245X	c.6733C>T	46	2245	CRD-repeat #18		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3112 ---248-0-1 Male Hemizygous - DMD 1
p.Glu2248X	c.6742G>T	46	2248	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 677 ---125-0-1 Male Hemizygous - DMD 10
p.Leu2256X	c.[6766C>T; 6767T>A]	47	2256	CRD-repeat #18		Small rearrangement	Ts/Tv	C->T/T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3294 ---101-0-1 Male Hemizygous ALGERIA DMD 1 3310 ---101-1-1 Male Hemizygous FRANCE DMD 1
p.Gly2265GlufsX6	c.6794delG	47	2265	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2274 ---147-0-m1 Male Hemizygous FRANCE DMD 114
p.Lys2268AsnfsX2	c.6804_6807delACAA	47	2268	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2269	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3156 ---079-0-1 Male Hemizygous - DMD 1
p.Gln2269AsnfsX2	c.6805delC	47	2269	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3088 ---834-0-1 Male Hemizygous - DMD 1
p.Ile2283SerfsX9	c.6843_6846dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2291	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2125 ---402-0-31 Male Hemizygous FRANCE DMD 106
p.Ser2284LysfsX7	c.6848dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1465 ---184-2-91 Male Hemizygous FRANCE DMD 100
p.Lys2294X	c.6880A>T	47	2294	CRD-repeat #18		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1430 ---247-4-71 Male Hemizygous FRANCE DMD 100
	c.IVS47-2A>G (c.6913-2A>G)	48	2305			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1598 ---240-3-61 Male Hemizygous FRANCE DMD 100
p.Leu2337X	c.7010T>G	48	2337	CRD-repeat #19		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1577 ---185-0-31 Male Hemizygous SPAIN DMD 106
	c.IVS48+1G>A (c.7098+1G>A)	48	2366			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3268 ---504-5-11 Male Hemizygous FRANCE Pending 1
	c.IVS48+1G>T (c.7098+1G>T)	48	2366			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2236 ---372-8-11 Male Hemizygous FRANCE DMD 106 2237 ---372-8-21 Male Hemizygous FRANCE DMD 106
p.Glu2369X	c.7105G>T	49	2369	CRD-repeat #19		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 675 ---552-0-1 Male Hemizygous FRANCE BMD 1
p.Leu2416TyrfsX5	c.7247delT	50	2416	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2420	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3017 ---066-0-1 Male Hemizygous - DMD 10
	c.IVS50+1G>A (c.7309+1G>A)	50-51	2437			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2599 ---114-7-51 Male Hemizygous FRANCE DMD 100
	c.IVS50+2T>A (c.7309+2T>A)	50-51	2437			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3144 ---874-0-1 Male Hemizygous - DMD 1
	c.IVS50-1G>A (c.7310-1G>A)	50-51	2437			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2301 ---218-1-m1 Male Hemizygous FRANCE DMD 114
p.Glu2460X	c.7378G>T	51	2460	CRD-hinge region #3		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2867 ---169-0-1 Male Hemizygous FRANCE DMD 1
p.Leu2465X	c.7392delC	51	2464	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2465	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3073 ---831-0-1 Male Hemizygous - DMD 1
p.Pro2470ThrfsX21	c.7406dup	51	2469	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2490	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3371 ---811-0-1 Male Hemizygous FRANCE DMD 1 2394 ---811-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Asp2484ThrfsX10	c.7449delC	51	2483	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2493	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3110 ---851-0-1 Male Hemizygous FRANCE DMD 1
p.Trp2485LeufsX6	c.7453dup	51	2485	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3157 ---544-0-1 Male Hemizygous - DMD 10
	c.IVS51+2T>C (c.7542+2T>C)	51	2514			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 666 ---025-0-1 Male Hemizygous FRANCE BMD 10
p.Gln2522X	c.7564C>T	52	2522	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1431 ---110-6-61 Male Hemizygous FRANCE DMD 105
p.Arg2553X	c.7657C>T	52	2553	CRD-repeat #20		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2586 ---033-3-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2281 ---160-9-m1 Male Hemizygous FRANCE DMD 114 1611 ---284-5-61 Male Hemizygous FRANCE DMD 106 2991 ---737-0-1 Male Hemizygous SPAIN DMD 1 1643 ---463-0-1 Male Hemizygous FRANCE DMD 10 3266 ---050-0-1 Male Hemizygous FRANCE DMD 1
p.Ile2557PhefsX19	c.7669delA	53	2557	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2575	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 ---120-0-1 Male Hemizygous - DMD 10 3250 ---120-1-1 Male Hemizygous FRANCE DMD 1
p.Leu2579X	c.7736T>A	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1483 ---297-6-31 Male Hemizygous BELGIUM DMD 106
p.Lys2580ArgfsX17	c.7739delA	53	2580	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2811 ---756-0-1 Male Hemizygous FRANCE DMD 10 2967 ---756-0-1 Male Hemizygous FRANCE DMD 10
p.Glu2590LysfsX6	c.7768_7771delGAAG	53	2590	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2595	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 648 ---139-0-1 Male Hemizygous FRANCE DMD 10
p.Pro2610SerfsX33	c.7826dup	53	2609	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2537 ---395-0-01 Male Hemizygous FRANCE DMD 106
p.Tyr2611LeufsX3	c.7832delA	53	2611	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2613	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3163 ---712-0-1 Male Hemizygous FRANCE DMD 1
p.Ile2620AsnfsX23	c.7858dup	53	2620	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 685 ---511-0-1 Male Hemizygous FRANCE DMD 10
p.Gln2625SerfsX13	c.7873delC	54	2625	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2637	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3021 ---143-0-1 Male Hemizygous - DMD 1 3023 ---143-1-1 Male Hemizygous - DMD 1 3024 ---143-0-2 Female Heterozygous - Pending 1
p.Trp2670X	c.8009G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3302 ---097-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS54+1G>A (c.8027+1G>A)	54-55	2676			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1478 ---288-6-51 Male Hemizygous FRANCE DMD 106
p.Arg2680X	c.8038C>T	55	2680	CRD-repeat #21		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1432 ---272-5-61 Male Hemizygous AUSTRALIA DMD 100 1031 ---521-0-1 Male Hemizygous FRANCE DMD 10
p.Glu2686LysfsX40	c.8055delA	55	2685	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3547 ---137-0-1 Male Hemizygous FRANCE DMD 1
p.Gln2692X	c.8074C>T	55	2692	CRD-repeat #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2539 ---413-2-61 Male Hemizygous FRANCE DMD 106
p.Leu2696ArgfsX30	c.8087delT	55	2696	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2453 ---404-0-91 Male Hemizygous FRANCE DMD 106
p.Glu2726X	c.8176G>T	55	2726	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1433 ---147-9-31 Male Hemizygous FRANCE DMD 105
p.Trp2738X	c.8214G>A	55	2738	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1612 ---285-6-81 Male Hemizygous FRANCE Pending 106
p.Asp2740ArgfsX5	c.8217dup	56	2740	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2744	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2354 ---365-8-71 Male Hemizygous FRANCE DMD 106
	c.IVS55-2A>G (c.8218-2A>G)	56	2740			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3134 ---858-0-1 Male Hemizygous FRANCE DMD 1
p.Lys2792ValfsX5	c.8374_8375delAA	56	2792	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2796	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2265 ---120-2-MA1 Male Hemizygous FRANCE DMD 114
p.His2799GlnfsX3	c.8392_8402del	57	2798	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2801	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1464 ---270-5-91 Male Hemizygous FRANCE DMD 100
p.Trp2807X	c.8420G>A	57	2807	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 689 ---593-0-1 Male Hemizygous FRANCE DMD 10
p.Val2869ThrfsX25	c.8605_8606delGT	58	2869	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2893	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2283 ---167-6-m1 Male Hemizygous FRANCE DMD 114
p.Arg2870X	c.8608C>T	58	2870	CRD-repeat #23		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2300 ---217-2-A1 Male Hemizygous FRANCE DMD 114 2745 ---100-8-81 Male Hemizygous FRANCE DMD 112 2746 ---100-0-21 Male Hemizygous FRANCE DMD 112 3162 ---048-0-1 Male Hemizygous FRANCE DMD 1 2852 ---176-0-1 Male Hemizygous FRANCE DMD 1
p.Glu2890Lys	c.8668G>A	58-59	2890	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3568 ---100-4-11 Male Hemizygous FRANCE DMD 1
p.Gln2898X	c.8692C>T	59	2898	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3029 ---736-0-2 Female Heterozygous - Symptomatic carrier 1
p.Arg2905X	c.8713C>T	59	2905	CRD-repeat #23		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2584 ---106-3-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2260 ---089-7-m1 Male Hemizygous FRANCE DMD 114
p.Gln2907X	c.8719C>T	59	2907	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2872 ---057-0-1 Male Hemizygous FRANCE IMD 1
p.Glu2910X	c.8728G>T	59	2910	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3018 ---111-0-1 Male Hemizygous - DMD 10
p.Asn2919ThrfsX11	c.8754delG	59	2918	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1462 ---102-6-01 Male Hemizygous FRANCE DMD 100
p.Leu2936ProfsX9	c.8807_8808delTC	59	2936	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2944	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1463 ---235-3-31 Male Hemizygous FRANCE DMD 103
p.Gln2937X	c.8809C>T	59	2937	CRD-repeat #24		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3421 ---956-0-1 Male Hemizygous ISRAEL DMD 1
p.Lys2949SerfsX7	c.8844delC	59	2948	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2955	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3461 ---046-0-1 Male Hemizygous FRANCE DMD 1 3462 ---046-1-01 Male Hemizygous FRANCE DMD 1 3463 ---046-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Asp2969ThrfsX20	c.8905delG	59	2969	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2988	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2240 ---034-5-m1 Male Hemizygous FRANCE DMD 114 2241 ---034-5-m1 Male Hemizygous FRANCE DMD 114
p.Gln2972SerfsX18	c.8912_8913dup	59	2972	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2989	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2352 ---378-9-41 Male Hemizygous FRANCE DMD 106
p.Gln2972X	c.8914C>T	59	2972	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1434 ---089-6-51 Male Hemizygous FRANCE DMD 102 2540 ---393-9-41 Male Hemizygous FRANCE Pending 106
p.His2974ThrfsX15	c.8920delC	59	2974	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2988	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3065 ---827-0-1 Male Hemizygous FRANCE DMD 1
p.Arg2982X	c.8944C>T	60	2982	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2613 ---489-4-31 Male Hemizygous FRANCE DMD 106 960 ---633-0-1 Male Hemizygous FRANCE DMD 10
	c.IVS60-1G>A (c.9085-1G>A)	61	3029			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2536 ---449-2-11 Male Hemizygous PANAMA DMD 106
p.Val3035GlyfsX8	c.9097_9103dup	61	3035	CRD-repeat #24		Small rearrangement	Fr.	Stop at 3042	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3109 ---817-0-1 Male Hemizygous FRANCE DMD 1
p.Phe3045SerfsX47	c.9126_9133dup	61	3045	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3091	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2608 ---295-6-72 Female Heterozygous FRANCE Symptomatic carrier 106
p.Gln3050X	c.9148C>T	61	3050	CRD-hinge region #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1435 ---273-6-21 Male Hemizygous FRANCE DMD 100
p.Ser3054ProfsX35	c.9160delT	61	3054	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3088	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2336 ---112-4-1091 Male Hemizygous FRANCE DMD 116
p.Asn3068LysfsX20	c.9204_9207delCAAA	62	3068	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3087	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3059 ---159-0-1 Male Hemizygous - DMD 1 3066 ---068-0-1 Male Hemizygous - DMD 1 3111 ---853-0-1 Male Hemizygous ITALIA DMD 1
p.Tyr3072X	c.9216C>A	62	3072	CRD-hinge region #4		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3086 ---147-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS62+1G>A (c.9224+1G>A)	62-63	3075			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2262 ---097-C-71 Male Hemizygous FRANCE DMD 114 3074 ---055-0-1 Male Hemizygous - DMD 10
	c.IVS62+5G>C (c.9224+5G>C)	62-63	3075			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 ---292-6-91 Male Hemizygous - DMD 106
	c.IVS62-1G>A (c.9225-1G>A)	62-63	3075			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 694 ---146-0-1 Male Hemizygous - DMD 10
	c.IVS63+2T>A (c.9286+2T>A)	63-64	3096			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2253 ---075-7-m1 Male Hemizygous FRANCE DMD 114
	c.9316_9318delinsA	64	3106	CRD-hinge region #4		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2767 ---522-5-41 Male Hemizygous FRANCE DMD 106
p.Arg3107LysfsX5	c.9320insAA	64	3107	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3111	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 693 ---347-0-1 Male Hemizygous FRANCE DMD 10
p.Met3110GlufsX12	c.9328_9337del	64	3110	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3121	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3106 ---806-0-1 Male Hemizygous - DMD 1
p.Lys3111AsnfsX14	c.9333delA	64	3111	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3124	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2299 ---209-6-m1 Male Hemizygous FRANCE DMD 114
p.Arg3113X	c.9337C>T	64	3113	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 695 ---229-0-1 Male Hemizygous ARGENTINA DMD 1 3013 ---242-0-1 Male Hemizygous - DMD 10
p.Gln3116X	c.9346C>T	64	3116	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2751 ---106-0-61 Male Hemizygous FRANCE DMD 112 2752 ---106-0-71 Male Hemizygous FRANCE DMD 112
	c.IVS64+5G>C (c.9361+5G>C)	64-65	3121			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3454 ---966-0-1 Male Hemizygous SPAIN BMD 1
	c.IVS64-1G>A (c.9362-1G>A)	64-65	3121			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2304 ---226-2-m1 Male Hemizygous FRANCE Pending 114
p.Gln3135X	c.9403C>T	65	3135	Cystein-rich domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3027 ---319-0-1 Male Hemizygous FRANCE DMD 1 3058 ---319-2-1 Male Hemizygous FRANCE DMD 1 3251 ---319-1-1 Male Hemizygous FRANCE DMD 1
p.Gln3149X	c.9445C>T	65	3149	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1436 ---181-0-52 Female Heterozygous FRANCE DMD 100 1437 ---181-1-71 Male Hemizygous FRANCE DMD 100
p.Cys3153X	c.9459_9462delTTTG	65	3153	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3153	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2296 ---196-9-A1 Male Hemizygous FRANCE Pending 114
	c.IVS65+1G>A (c.9563+1G>A)	65-66	3188			Small rearrangement	Ts	G->A	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1515 ---144-8-71 Male Hemizygous FRANCE DMD 105 2380 ---366-8-01 Male Hemizygous FRANCE DMD 106 2535 ---411-0-01 Male Hemizygous FRANCE DMD 106 2625 ---446-2-01 Male Hemizygous FRANCE DMD 106 2243 ---040-4-m1 Male Hemizygous FRANCE DMD 114
	c.IVS65-2A>G (c.9564-2A>G)	65-66	3188			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3265 ---054-0-1 Male Hemizygous FRANCE DMD 1
	c.IVS65-2A>T (c.9564-2A>T)	65-66	3188			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1605 ---255-4-51 Male Hemizygous FRANCE DMD 100
p.Arg3190X	c.9568C>T	66	3190	Cystein-rich domain		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1438 ---103-6-31 Male Hemizygous FRANCE DMD 103 1439 ---093-6-01 Male Hemizygous FRANCE DMD 100 1505 ---029-1-61 Male Hemizygous FRANCE DMD 111 2286 ---176-9-MA1 Male Hemizygous FRANCE DMD 114 2287 ---176-1-MA1 Male Hemizygous FRANCE DMD 114 1702 ---151-1-1621 Male Hemizygous FRANCE DMD 116 1708 ---223-6-5501 Male Hemizygous FRANCE DMD 116 1709 ---223-6-4591 Male Hemizygous FRANCE DMD 120 1744 ---216-9-3671 Male Hemizygous FRANCE DMD 120 705 ---446-0-1 Male Hemizygous FRANCE DMD 10 858 ---494-0-1 Male Hemizygous FRANCE DMD 10 3247 ---919-0-1 Male Hemizygous FRANCE DMD 1 3370 ---220-0-1 Male Hemizygous FRANCE DMD 1
p.Gly3202ValfsX3	c.9592_9604dup	66	3202	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3204	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1509 ---020-2-11 Male Hemizygous FRANCE DMD 111
p.Tyr3217X	c.9651C>A	66-67	3217	Cystein-rich domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3130 ---662-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
	c.IVS66+1G>A (c.9649+1G>A)	66-67	3217			Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1750 ---225-0-4191 Male Hemizygous FRANCE DMD 120 649 ---094-0-1 Male Hemizygous - DMD 10 668 ---420-0-1 Male Hemizygous - DMD 10 669 ---420-1-1 Male Hemizygous - DMD 1
	c.IVS66-3del7a (c.9650-3del7a)	66-67	3217			Small rearrangement	Tv	del7a	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 857 ---136-0-1 Male Hemizygous FRANCE BMD 10
p.Val3222TrpfsX61	c.9663delA	67	3221	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1727 ---748-0-1 Male Hemizygous FRANCE DMD 10
p.Ser3225GlnfsX58	c.9673delT	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1784 ---C13-0-7111 Male Hemizygous FRANCE DMD 116
p.Ser3225ValfsX6	c.9673insG	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3230	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2636 ---495-4-61 Male Hemizygous FRANCE DMD 106
p.Gln3231X	c.9691C>T	67	3231	Cystein-rich domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3025 ---624-0-1 Male Hemizygous - DMD 10
p.Ser3262CysfsX9	c.9783_9784delAA	67	3261	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1715 ---278-2-5361 Male Hemizygous FRANCE DMD 116
	c.IVS67+4del1 (c.9807+4del1)	67	3269			Small rearrangement	Tv	del1	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1563 ---160-9-21 Male Hemizygous FRANCE DMD 100
	c.IVS67+5G>A (c.9807+5G>A)	67	3269			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2869 ---101-1-11 Male Hemizygous FRANCE DMD 1
p.Ala3270LeufsX14	c.9806_9807dup	68	3270	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3283	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2282 ---165-D-91 Male Hemizygous FRANCE DMD 114
p.Ala3278GlyfsX37	c.9832dup	68	3278	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3314	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2592 ---182-5-m2 Female Heterozygous FRANCE Symptomatic carrier 114
p.Pro3296LeufsX27	c.9887_9908del	68	3296	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3322	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3414 ---954-0-1 Male Hemizygous FRANCE DMD 1 3415 ---954-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Cys3319Arg	c.9955T>C	68	3319	Carboxy-terminal region		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2376 ---235-8-m1 Male Hemizygous FRANCE Pending 114 3453 ---364-0-1 Male Hemizygous FRANCE DMD 1
p.Pro3320GlnfsX10	c.9959delC	68	3320	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3329	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1737 ---275-4-5211 Male Hemizygous FRANCE DMD 116 1738 ---275-4-5491 Male Hemizygous FRANCE DMD 116
	c.IVS68+1G>T (c.9974+1G>T)	68-69	3325			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3019 ---789-0-1 Male Hemizygous - DMD 10 3020 ---789-1-1 Male Hemizygous - DMD 1
p.Phe3332Cys	c.9995T>G	69	3332	Carboxy-terminal region		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2604 ---264-6-01 Male Hemizygous FRANCE DMD 106 2605 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Asp3335Tyr	c.10003G>T	69	3335	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1672 ---268-8-61 Male Hemizygous FRANCE DMD 106
p.Cys3340Arg	c.10018T>C	69	3340	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1607 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Ser3343LeufsX34	c.10027delT	69	3343	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2332 ---C20-8-7311 Male Hemizygous FRANCE DMD 116
p.Arg3345X	c.10033C>T	69	3345	Carboxy-terminal region		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1758 ---219-4-3791 Male Hemizygous FRANCE DMD 120 652 ---289-0-1 Male Hemizygous FRANCE DMD 10
	c.IVS69+1G>T (c.10086+1G>T)	69	3362			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2664 ---084-5-82 Female Heterozygous FRANCE Symptomatic carrier 106 1661 ---084-5-81 Male Hemizygous FRANCE DMD 101 690 ---101-0-1 Male Hemizygous - DMD 10
	c.IVS69+5G>C (c.10086+5G>C)	69	3362			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1641 ---080-5-01 Male Hemizygous FRANCE DMD 103
	c.IVS69-2A>T (c.10087-2A>T)	70	3363			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1458 ---311-7-51 Male Hemizygous FRANCE DMD 106
p.Asp3368His	c.10102G>C	70	3368	Carboxy-terminal region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 658 ---462-0-1 Male Hemizygous - BMD 10
p.Arg3370X	c.10108C>T	70	3370	Carboxy-terminal region		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1440 ---191-1-71 Male Hemizygous FRANCE DMD 100 2602 ---191-1-82 Female Heterozygous FRANCE Symptomatic carrier 106 2655 ---445-4-41 Male Hemizygous FRANCE DMD 106 657 ---346-0-1 Male Hemizygous FRANCE DMD 10 3155 ---045-1-1 Male Hemizygous FRANCE DMD 1 3204 ---895-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2419 ---045-0-1 Male Hemizygous FRANCE DMD 1
p.Leu3376X	c.10126delC	70	3376	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1460 ---085-5-21 Male Hemizygous FRANCE DMD 101 2598 ---085-2-12 Female Heterozygous FRANCE Symptomatic carrier 106 3009 ---691-0-1 Male Hemizygous - DMD 10
p.Lys3379X	c.10135A>T	70	3379	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3016 ---574-0-1 Male Hemizygous - DMD 10
p.Arg3381X	c.10141C>T	70	3381	Carboxy-terminal region		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1441 ---100-6-61 Male Hemizygous FRANCE DMD 105 2348 ---400-0-71 Male Hemizygous FRANCE DMD 106 2640 ---379-1-81 Male Hemizygous FRANCE DMD 106 2670 ---734-0-651 Male Hemizygous FRANCE DMD 116 1751 ---204-7-4531 Male Hemizygous FRANCE DMD 116 1755 ---204-7-3171 Male Hemizygous FRANCE DMD 119 3135 ---489-0-1 Male Hemizygous FRANCE DMD 1 3316 ---946-0-1 Male Hemizygous FRANCE DMD 1 3317 ---946-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2880 ---101-8-11 Male Hemizygous FRANCE DMD 1
p.Arg3391X	c.10171C>T	70	3391	Carboxy-terminal region		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1442 ---115-7-61 Male Hemizygous FRANCE DMD 100 1443 ---205-4-71 Male Hemizygous FRANCE DMD 100 1444 ---174-2-91 Male Hemizygous FRANCE DMD 100 2263 ---107-5-m1 Male Hemizygous FRANCE DMD 114 1698 ---233-5-4341 Male Hemizygous FRANCE DMD 120 653 ---095-0-1 Male Hemizygous - DMD 10 654 ---099-0-1 Male Hemizygous FRANCE DMD 10 655 ---099-1-1 Male Hemizygous FRANCE DMD 1 656 ---099-2-1 Male Hemizygous FRANCE DMD 1 2791 ---521-0-1 Male Hemizygous FRANCE DMD 10 2947 ---521-0-1 Male Hemizygous FRANCE DMD 10 3164 ---131-0-1 Male Hemizygous FRANCE DMD 1
p.Glu3402ArgfsX11	c.10203delA	70	3401	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1461 ---274-5-61 Male Hemizygous FRANCE Pending 100
	c.IVS70+1G>A (c.10223+1G>A)	70-71	3408			Small rearrangement	Ts	G->A	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1570 ---175-0-11 Male Hemizygous FRANCE DMD 100 2280 ---154-5-m1 Male Hemizygous FRANCE DMD 114 1712 ---C15-5-6991 Male Hemizygous FRANCE DMD 116 667 ---424-0-1 Male Hemizygous - DMD 10 1085 ---151-0-1 Male Hemizygous - DMD 10 3001 ---406-0-1 Male Hemizygous FRANCE DMD 10 3220 ---406-1-1 Male Hemizygous FRANCE DMD 1
	c.IVS70+2insT (c.10223+2insT)	70-71	3408			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2272 ---145-7-m1 Male Hemizygous FRANCE DMD 114 2661 ---514-5-61 Male Hemizygous FRANCE DMD 106
	c.IVS70+3G>C (c.10223+3G>C)	70-71	3408			Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2302 ---221-7-m1 Male Hemizygous FRANCE DMD 114 660 ---380-0-1 Male Hemizygous - DMD 10
	c.IVS70+5G>A (c.10223+5G>A)	70-71	3408			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2570 ---205-8-3391 Male Hemizygous FRANCE DMD 116 3131 ---475-0-1 Male Hemizygous FRANCE DMD 1
p.Pro3409TyrfsX22	c.10225_10229delCCCGT	71	3409	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3430	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3014 ---193-0-1 Male Hemizygous FRANCE BMD 1 3377 ---193-1-1 Male Hemizygous FRANCE BMD 1 3378 ---193-2-1 Male Hemizygous FRANCE BMD 1
p.Thr3411AsnfsX22	c.10231dup	71	3411	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3432	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3033 ---653-0-1 Male Hemizygous FRANCE BMD 1
p.Gln3427X	c.10279C>T	72	3427	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 680 ---429-0-1 Male Hemizygous - BMD 1
p.Tyr3454X	c.10362T>A	73	3454	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1770 ---662-0-1 Male Hemizygous - BMD 1
p.Glu3463X	c.10387G>T	73	3463	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2271 ---144-4-MA1 Male Hemizygous FRANCE Pending 114
p.Leu3471X	c.10412T>A	74	3471	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1580 ---193-1-71 Male Hemizygous FRANCE BMD 124
p.Leu3485X	c.10453delC	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3485	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2264 ---112-A-11 Male Hemizygous FRANCE Pending 114
p.Leu3485ProfsX6	c.10453dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2338 ---C69-0-981 Male Hemizygous FRANCE Pending 116 1078 ---684-0-1 Male Hemizygous - BMD 1
p.Leu3485GlufsX5	c.10453_10454delCT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3489	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3417 ---085-0-1 Male Hemizygous FRANCE DMD 1
p.Leu3485ArgfsX11	c.10454delT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3495	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3388 ---961-0-1 Male Hemizygous FRANCE DMD 1
p.Ser3486GlufsX5	c.10454dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3528 ---991-0-1 Male Hemizygous FRANCE DMD 1
p.Ser3500X	c.10498_10499delAG	74	3500	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3500	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2266 ---124-0-21 Male Hemizygous FRANCE BMD 114 1399 ---103-0-1 Male Hemizygous - BMD 1
	c.IVS74-2A>G (c.10554-2A>G)	74-75	3518			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1511 ---133-8-01 Male Hemizygous FRANCE BMD 105
p.Tyr3524X	c.10572T>A	75	3524	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1670 ---245-4-21 Male Hemizygous FRANCE DMD 106
p.Gly3535ArgfsX10	c.10602dup	75	3535	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3544	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2254 ---076-0-m1 Male Hemizygous FRANCE DMD 114
p.Met3545AlafsX11	c.10603_10631dup	75	3544	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3555	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3217 ---701-0-1 Male Hemizygous FRANCE DMD 1 3218 ---701-1-1 Male Hemizygous FRANCE DMD 1 3219 ---701-2-1 Male Hemizygous FRANCE DMD 1
p.Arg3575GlyfsX19	c.10722delC	75	3574	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3593	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 ---285-0-1 Male Hemizygous FRANCE DMD 10 2871 ---285-1-1 Male Hemizygous FRANCE DMD 1
p.Gln3589X	c.10765C>T	75	3589	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1637 ---350-8-71 Male Hemizygous FRANCE Pending 106
p.Ser3637X	c.10910C>A	76	3637	Carboxy-terminal region		Small rearrangement	Tv	C->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2350 ---387-9-11 Male Hemizygous FRANCE BMD 106 2351 ---387-1-71 Male Hemizygous FRANCE BMD 106 1000 ---665-0-1 Male Hemizygous FRANCE DMD 1 1094 ---665-1-1 Male Hemizygous FRANCE DMD 1