The UMD-DMD France mutations database
2898 records found

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.-648_0dup	1	1	Dp427m unique N-Ter		Large rearrangement Duplication from 5' region to exon 1	Fr.	Stop at 228	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 366 ---064-0-1 Male - DMD 1
p.Met1?	c.1_11055del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 79	InF	In frame del	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1592 ---224-2-61 Male FRANCE DMD 106 2476 ---036-4-91 Male FRANCE DMD 127 727 ---020-0-1 Male - DMD 3 2863 ---144-0-1 Male FRANCE DMD 1
p.Met1?	c.1_1992del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 16	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3587 ---707-0-1 Male FRANCE DMD 1
p.Met1?	c.1_31del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 1	Fr.	Stop at 15	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1987 ---101-7-0211 Male FRANCE BMD 121 1594 ---226-2-31 Male FRANCE DMD 106 2430 ---034-5-91 Male FRANCE Pending 126 703 ---571-0-1 Male - DMD 1 3209 ---048-0-1 Male - DMD 12 3210 ---048-0- Female - Symptomatic carrier 12 3301 ---565-0-1 Male FRANCE DMD 1
p.Met1?	c.1_4233del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 30	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3506 ---065-0-1 Male FRANCE DMD 1
p.Met1?	c.1_6290del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 43	Fr.	Stop at 3	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2529 ---081-7-31 Male FRANCE Pending 126 1820 ---029-2-11 Male FRANCE DMD 115
p.Met1?	c.1_6438del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3307 ---017-0-1 Male FRANCE DMD 1
p.Met1?	c.1_649del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 7	Fr.	Stop at 13	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1863 ---074-9-61 Male FRANCE DMD 115 1909 ---046-5-m071 Male - BMD 113 2562 ---734-0-071 Male FRANCE DMD 121 3380 ---049-0-1 Male FRANCE Pending 1
p.Met1?	c.1_7200del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 49	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3308 ---100-0-1 Male FRANCE DMD 1 2860 ---901-0-1 Male FRANCE DMD 1
p.Met1?	c.1_7542del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 51	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1484 ---018-3-11 Male FRANCE DMD 110
p.Met1?	c.1_831del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 8	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2415 ---019-1-91 Male FRANCE Pending 126
p.Met1?	c.1_93del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 2	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3472 ---053-0-1 Male FRANCE DMD 1
p.Met1?	c.1_960del	1	1	Dp427m unique N-Ter		Large rearrangement Deletion from exon 1 to 9	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1558 ---126-7-91 Male FRANCE BMD 106
p.Trp4X	c.11G>A	1	4	Dp427m unique N-Ter		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2288 ---179-5-m1 Male FRANCE BMD 114
p.Asn444LysfsX2	c.32_1332dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 11	Fr.	Stop at 445	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 632 ---033-0-1 Male - DMD 1
p.Tyr11CysfsX24	c.32_1482del	1-2	11	Dp427m unique N-Ter		Large rearrangement Deletion from exon 2 to 12	Fr.	Stop at 34	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3521 ---085-0-1 Male FRANCE Pending 1
p.Val495MetfsX15	c.32_1483dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 12	Fr.	Stop at 509	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 441 ---080-0-1 Male - BMD 1 442 ---080-1-1 Male - BMD 1
p.Val535MetfsX15	c.32_1603dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 13	Fr.	Stop at 549	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 132 ---059-0-1 Male - DMD 1
p.Ile665MetfsX15	c.32_1993dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 16	Fr.	Stop at 679	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 367 ---325-0-1 Male - DMD 1
p.Tyr11CysfsX6	c.32_2168del	1-2	11	Dp427m unique N-Ter		Large rearrangement Deletion from exon 2 to 17	Fr.	Stop at 16	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2556 ---166-7-0111 Male FRANCE DMD 121
p.Ala765MetfsX15	c.32_2293dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 18	Fr.	Stop at 779	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 368 ---027-0-1 Male - DMD 1
p.Val89MetfsX15	c.32_265dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 4	Fr.	Stop at 103	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1621 ---101-3-31 Male FRANCE DMD 106 1030 ---397-0-1 Male - DMD 1 1862 ---037-0-1 Male FRANCE IMD 1 3125 ---037-1-1 Male FRANCE IMD 1 3126 ---037-0-2 Female FRANCE Symptomatic carrier 1
p.Ala1616MetfsX15	c.32_4846dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 34		Stop at 1630	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3273 ---890-0-1 Male INDIA DMD 1
p.Tyr11CysfsX31	c.32_530del	1-2	11	Dp427m unique N-Ter		Large rearrangement Deletion from exon 2 to 6	Fr.	Stop at 41	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1647 ---098-6-41 Male FRANCE BMD 106
p.His1975MetfsX15	c.32_5923dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 41	Fr.	Stop at 1989	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 369 ---251-0-1 Male - DMD 1
p.Glu2147MetfsX15	c.32_6439dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 44	Fr.	Stop at 2161	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 370 ---245-0-1 Male - DMD 1
p.Glu12_Asp217del	c.32_649del	1-2	11	Dp427m unique N-Ter		Large rearrangement Deletion from exon 2 to 7	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3237 ---624-0-1 Male FRANCE BMD 1 3238 ---624-1-1 Male FRANCE Asymptomatic 1
p.Tyr11delinsTyrMet	c.32_650dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 7	Fr.	In frame ins	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2339 ---047-2-91 Male FRANCE BMD 112 2619 ---204-7-181 Male FRANCE BMD 115 2620 ---204-7-171 Male FRANCE BMD 115 2691 ---235-4-041 Male FRANCE Pending 115 1668 ---310-7-31 Male FRANCE BMD 106 1786 ---921-0-281 Male FRANCE BMD 116 403 ---190-0-1 Male - BMD 1 404 ---190-1-1 Male - BMD 1 415 ---427-1-1 Male - BMD 1 416 ---427-0-1 Male - BMD 1 765 ---634-0-1 Male FRANCE BMD 1 3175 ---607-0-1 Male FRANCE DCM 1 3258 ---035-0-1 Male FRANCE BMD 1 3259 ---035-1-1 Male FRANCE BMD 1 3545 ---164-0-1 Male FRANCE BMD 1
p.Tyr11CysfsX12	c.32_9084del	1-2	11	Dp427m unique N-Ter		Large rearrangement Deletion from exon 2 to 60	Fr.	Stop at 22	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3234 ---089-0-1 Male FRANCE DMD 1 3235 ---089-0-2 Female FRANCE Symptomatic carrier 1
p.Phe32MetfsX15	c.32_94dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 2	Fr.	Stop at 46	32
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1476 ---286-5-71 Male FRANCE DMD 106 2214 ---202-0-m1 Male FRANCE DMD 114 2612 ---361-8-31 Male FRANCE DMD 106 2672 ---217-6-4231 Male FRANCE DMD 116 2692 ---237-5-351 Male FRANCE DMD 115 2711 ---120-4-0561 Male FRANCE DMD 116 2732 ---077-9-81 Male FRANCE DMD 112 31 ---282-0-1 Male - DMD 1 2381 ---300-6-91 Male FRANCE DMD 106 1657 ---010-6-91 Male FRANCE DMD 106 1658 ---010-0-21 Male FRANCE DMD 106 2576 ---156-5-2231 Male FRANCE DMD 116 510 ---082-0-1 Male - DMD 1 2833 ---282-1-1 Male - DMD 1 2989 ---282-1-1 Male - DMD 1 3041 ---808-0-1 Male - DMD 1 3044 ---772-0-1 Male - DMD 1 3095 ---136-0-1 Male - DMD 1 3097 ---814-0-1 Male - DMD 1 3098 ---813-0-1 Male - DMD 1 3099 ---800-0-1 Male - DMD 1 3122 ---020-0-1 Male - DMD 1 3178 ---740-0-1 Male FRANCE DMD 1 3183 ---856-0-1 Male - Pending 1 3191 ---889-0-1 Male - Pending 1 3221 ---567-0-1 Male - DMD 1 3244 ---672-0-1 Male FRANCE DMD 1 3437 ---069-0-1 Male FRANCE DMD 1 3468 ---289-0-1 Male FRANCE DMD 1 3470 ---225-0-1 Male FRANCE DMD 1 3527 ---217-0-1 Male FRANCE DMD 1 2936 ---102-4-11 Male RUSSIA IMD 1
p.His321MetfsX15	c.32_961dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 9		Stop at 335	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2580 ---070-0-61 Male FRANCE DMD 127
	c.IVS1+1G>T (c.31+1G>T)	1-2	11			Small rearrangement	Tv	G->T	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1689 ---277-4-6311 Male FRANCE DCM 116 2577 ---C48-0-641 Male FRANCE DCM 116 1725 ---219-8-3831 Male FRANCE DCM 116 1732 ---219-8-5341 Male FRANCE BMD 116 1733 ---219-8-5331 Male FRANCE BMD 116 2578 ---C48-0-671 Male FRANCE DCM 116 1760 ---219-8-4841 Male FRANCE BMD 116 1793 ---277-4-6001 Male FRANCE DCM 116 1794 ---277-4-6021 Male FRANCE DCM 116 868 ---595-0-1 Male FRANCE BMD 10 3225 ---225-3-1 Male FRANCE BMD 1 3322 ---875-0-1 Male 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 Biological significance Geographic origin Mutation type References 2703 ---347-3-61 Male FRANCE BMD 106
	c.IVS1+36947G>A (c.31+36947G>A)	1-2	11			Small rearrangement	Ts	G->A	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3275 ---726-0-1 Male FRANCE BMD 10 3349 ---138-0-1 Male FRANCE BMD 10 3441 ---558-0-1 Male FRANCE BMD 1 3473 ---966-0-1 Male FRANCE BMD 1 3485 ---262-0-1 Male FRANCE BMD 1 3580 ---262-1-1 Male FRANCE BMD 1 3586 ---558-1-1 Male FRANCE BMD 1
	c.IVS1+3insT (c.31+3insT)	1-2	11			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3340 ---164-0-1 Male FRANCE BMD 1 3341 ---164-1-1 Male 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 Biological significance Geographic origin Mutation type References 976 ---639-0-1 Male FRANCE DCM 10 2993 ---639-1-1 Male FRANCE DCM 1 2994 ---639-2-1 Male FRANCE DCM 1 3525 ---639-3-1 Male FRANCE BMD 1 3572 ---639-4-1 Male FRANCE Asymptomatic 1
p.Lys18ArgfsX8	c.53delA	2	18	Actin binding domain		Small rearrangement	Fr.	Stop at 25	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2662 ---512-5-21 Male FRANCE BMD 106
	c.IVS2+1del5 (c.93+1del5)	2	31			Small rearrangement	Tv	del5	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2259 ---085-4-m1 Male FRANCE IMD 114
p.Gly33ThrfsX2	c.94_1331del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 11	Fr.	Stop at 34	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2000 ---126-8-62831 Male FRANCE DMD 117 38 ---186-0-1 Male FRANCE IMD 1 47 ---335-0-1 Male FRANCE DMD 1 1730 ---223-7-4011 Male FRANCE DMD 116 1376 ---654-0-1 Male - DMD 1 2829 ---186-1-1 Male FRANCE Pending 1 2985 ---186-1-1 Male FRANCE Pending 1 3343 ---846-0-1 Male FRANCE DMD 1 3444 ---971-0-1 Male FRANCE Pending 1 3548 ---997-0-1 Male FRANCE DMD 1
p.His446GlyfsX19	c.94_1332dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 11	Fr.	Stop at 464	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1628 ---363-8-01 Male FRANCE DMD 106
p.Phe32_Lys494del	c.94_1482del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 12	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2758 ---112-3-11 Male FRANCE Pending 112 1775 ---209-0-3361 Male FRANCE BMD 116 516 ---027-0-1 Male FRANCE DMD 1
p.Lys31_Phe32ins463AA	c.94_1483dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 12	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2073 ---002-7-A1 Male FRANCE Pending 114
p.Phe32_Lys534del	c.94_1602del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 13	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3298 ---149-0-1 Male FRANCE BMD 1
p.Phe32_Ala604del	c.94_1812del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 15	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1880 ---101-2-61 Male FRANCE DMD 115 2895 ---102-8-11 Male FRANCE Pending 1
p.Phe32_Leu62del	c.94_186del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 3	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2036 ---023-0-91 Male FRANCE Pending 122 2037 ---023-0-01 Male FRANCE Pending 122 1897 ---122-6-11 Male FRANCE BMD 115
p.Lys31_Phe32ins31AA	c.94_187dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 3	Fr.	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 439 ---466-0-1 Male - BMD 1 3292 ---808-0-1 Male FRANCE BMD 1
p.Phe32_Gln664del	c.94_1992del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 16	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 408 ---230-0-1 Male - BMD 1
p.Lys31_Phe32ins633AA	c.94_1993dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 16	InF	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2849 ---620-0-1 Male FRANCE BMD 1
p.Phe32ValfsX4	c.94_2168del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 17	Fr.	Stop at 35	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2603 ---231-3-61 Male ALGERIA DMD 106
p.Arg723SerfsX21	c.94_2169dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 17	Fr.	Stop at 743	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4 ---406-0-2 Female - Symptomatic carrier 8
p.Phe32_Asn764del	c.94_2292del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 18	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 48 ---174-0-1 Male - DMD 1
p.Phe32ArgfsX15	c.94_2380del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 19	Fr.	Stop at 46	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1916 ---057-9-m161 Male - DMD 113 164 ---096-0-1 Male - DMD 1 3227 ---096-1-1 Male FRANCE DMD 1
p.Lys31_Phe32ins762AA	c.94_2380dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 19	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 375 ---149-0-1 Male - BMD 1
p.Phe32_Lys874del	c.94_2622del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 20	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2030 ---006-0-31 Male FRANCE Pending 122 517 ---077-0-1 Male - BMD 1
p.Phe32_Asn88del	c.94_264del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 4	InF	In frame del	19
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2002 ---115-5-48751 Male FRANCE BMD 117 2044 ---037-0-71 Male FRANCE BMD 122 1475 ---017-4-91 Male FRANCE BMD 110 1873 ---094-9-21 Male FRANCE BMD 115 1934 ---042-2-91 Male FRANCE BMD 106 1935 ---042-2-01 Male FRANCE BMD 106 2754 ---107-0-51 Male FRANCE BMD 112 1782 ---992-0-051 Male FRANCE BMD 116 409 ---186-0-1 Male - BMD 1 410 ---186-1-1 Male - BMD 1 411 ---186-2-1 Male - BMD 1 418 ---100-0-1 Male - BMD 1 445 ---141-0-1 Male - BMD 1 512 ---070-0-1 Male FRANCE BMD 1 513 ---142-0-1 Male - BMD 1 514 ---249-0-1 Male - BMD 1 3079 ---748-0-1 Male - BMD 1 3168 ---116-0-1 Male - BMD 1 3246 ---070-1-1 Male FRANCE BMD 1
p.Lys31_Phe32ins57AA	c.94_265dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 4	Fr.	In frame ins	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2204 ---190-C-21 Male FRANCE DMD 114 371 ---191-0-1 Male - DMD 1 633 ---226-0-1 Male FRANCE BMD 1 634 ---307-0-1 Male - BMD 1 864 ---641-0-1 Male FRANCE Pending 1 1372 ---709-0-1 Male - BMD 1
p.Gly33LeufsX13	c.94_2803del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 21	Fr.	Stop at 45	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 165 ---169-0-1 Male - DMD 1 1716 ---211-7-3421 Male FRANCE DMD 119
p.Phe936TrpfsX6	c.94_2804dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 21	Fr.	Stop at 941	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 376 ---050-0-1 Male - DMD 1
p.Phe32_Gln1144del	c.94_3432del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 25	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2065 ---079-0-11 Male FRANCE Pending 122 518 ---114-0-1 Male - BMD 1
p.Phe32_Gln119del	c.94_357del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 5	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 515 ---165-0-1 Male - BMD 1
p.Lys31_Phe32ins88AA	c.94_358dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 5	Fr.	In frame ins	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2353 ---370-8-91 Male FRANCE Pending 106 2743 ---097-1-51 Male FRANCE Pending 112 1678 ---043-5-51 Male FRANCE DMD 112 440 ---063-0-1 Male FRANCE BMD 1 3049 ---107-0-1 Male - BMD 1 2882 ---063-1-1 Male FRANCE BMD 1 2883 ---063-2-1 Male FRANCE BMD 1
p.Lys31_Phe32ins1170AA	c.94_3604dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 26	InF	In frame ins	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3347 ---940-0-1 Male FRANCE DMD 1 3526 ---940-1-1 Male FRANCE DMD 1 3584 ---940-2-1 Male FRANCE DMD 1
p.Phe32_Glu1262del	c.94_3786del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 27	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2545 ---116-3-0411 Male FRANCE BMD 121
p.Phe32_Glu1357del	c.94_4071del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 29	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3497 ---149-0-1 Male FRANCE DMD 1
p.Phe32_Gln1411del	c.94_4233del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 30	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2374 ---138-8-m1 Male FRANCE DMD 114
p.Phe32_Lys1558del	c.94_4674del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 33	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3303 ---829-0-1 Male FRANCE DMD 1
p.Phe32_Lys1615del	c.94_4845del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 34	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2050 ---047-0-31 Male FRANCE Pending 122 1778 ---155-6-3141 Male FRANCE DMD 119 3513 ---349-0-1 Male FRANCE DMD 1
p.Phe32AlafsX5	c.94_530del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 6	Fr.	Stop at 36	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2004 ---135-8-75621 Male FRANCE DMD 117 33 ---027-1-1 Male - DMD 1 34 ---027-0-1 Male - DMD 1 45 ---146-0-1 Male - BMD 1 159 ---098-0-1 Male - DMD 1 1734 ---161-8-3131 Male FRANCE DMD 116 1735 ---161-8-3121 Male FRANCE DMD 119
p.Arg177SerfsX21	c.94_531dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 6	Fr.	Stop at 197	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 133 ---295-0-1 Male - DMD 1 738 ---625-0-1 Male - DMD 1 1043 ---622-0-1 Male - DMD 1
p.Phe32_Lys1775del	c.94_5325del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 37	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2109 ---058-C-11 Male FRANCE DMD 114
p.Phe32_Ile1974del	c.94_5922del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 41	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1822 ---031-3-21 Male FRANCE DMD 115 3515 ---031-0-1 Male FRANCE DMD 1
p.Lys31_Phe32ins2008AA	c.94_6118dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 42	Fr.	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2451 ---249-4-41 Male FRANCE BMD 106 1632 ---303-7-41 Male FRANCE DMD 106
p.Phe32AlafsX3	c.94_6290del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 43	Fr.	Stop at 34	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1846 ---056-5-71 Male FRANCE DMD 115 2416 ---021-3-51 Male FRANCE Pending 126 2439 ---044-5-11 Male FRANCE Pending 126 166 ---077-0-1 Male - DMD 1 3483 ---710-0-2 Female FRANCE Symptomatic carrier 1
p.Phe32_Lys2146del	c.94_6438del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 44	InF	In frame del	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2012 ---202-4-61181 Male FRANCE BMD 117 2473 ---045-0-71 Male FRANCE DMD 127 49 ---027-0-1 Male - DMD 1 1803 ---009-0-11 Male FRANCE DMD 115 1374 ---689-0-1 Male - DMD 1 3166 ---854-0-1 Male - DMD 1
p.Phe32MetfsX13	c.94_649del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 7	Fr.	Stop at 44	55
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2010 ---243-2-81 Male FRANCE BMD 117 2642 ---209-1-121 Male FRANCE BMD 115 2062 ---075-0-81 Male FRANCE DMD 122 2063 ---075-0-91 Male FRANCE DMD 122 2064 ---077-0-01 Male FRANCE BMD 122 2115 ---048-5-51 Male FRANCE Pending 110 1487 ---028-1-21 Male FRANCE DMD 110 1489 ---031-0-41 Male FRANCE BMD 110 1494 ---036-4-41 Male FRANCE DMD 110 1501 ---044-2-81 Male FRANCE DMD 110 1553 ---117-7-81 Male FRANCE BMD 106 1554 ---117-7-61 Male BELGIUM BMD 106 1600 ---242-3-31 Male FRANCE DMD 106 1881 ---102-0-41 Male FRANCE BMD 115 1902 ---004-0-11 Male - BMD 113 1913 ---051-7-m061 Male - BMD 113 1943 ---032-1-01 Male FRANCE BMD 106 1967 ---049-2-21 Male FRANCE Pending 106 2181 ---140-D-11 Male FRANCE Pending 114 2207 ---194-5-m1 Male FRANCE BMD 114 2466 ---026-7-61 Male FRANCE BMD 127 2474 ---027-3-31 Male FRANCE BMD 127 2486 ---054-3-71 Male FRANCE BMD 127 2675 ---194-3-0901 Male FRANCE Pending 121 2725 ---066-3-61 Male FRANCE DMD 112 2737 ---085-1-61 Male FRANCE DMD 112 21 ---087-0-1 Male - DMD 1 29 ---185-0-1 Male - DMD 1 46 ---400-0-1 Male FRANCE DMD 1 160 ---059-0-1 Male - DMD 1 161 ---159-0-1 Male FRANCE BMD 1 163 ---398-0-1 Male - DMD 1 436 ---062-0-1 Male - IMD 1 437 ---062-1-1 Male - IMD 1 446 ---055-0-1 Male FRANCE BMD 1 447 ---146-0-1 Male - BMD 1 502 ---131-0-1 Male FRANCE BMD 1 511 ---042-0-1 Male - BMD 1 744 ---354-0-1 Male FRANCE BMD 1 749 ---036-0-1 Male - DMD 1 985 ---686-0-1 Male - DMD 1 1388 ---627-0-1 Male - DMD 1 2806 ---087-1-1 Male - DMD 1 2807 ---087-2-1 Male - DMD 1 2808 ---087-3-1 Male - DMD 1 2962 ---087-1-1 Male - DMD 1 2963 ---087-2-1 Male - DMD 1 2964 ---087-3-1 Male - DMD 1 3075 ---068-0-1 Male - IMD 1 3335 ---823-0-1 Male FRANCE Pending 1 3336 ---823-1-1 Male FRANCE BMD 1 3376 ---389-0-1 Male FRANCE DMD 1 3518 ---796-0-1 Male FRANCE DMD 1 3551 ---608-0-1 Male FRANCE DMD 1 2935 ---101-5-11 Male FRANCE Pending 1
p.Asp217ValfsX7	c.94_650dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 7	Fr.	Stop at 223	25
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2360 ---194-1-01 Male FRANCE DMD 106 2544 ---065-6-81 Male FRANCE DMD 110 2709 ---822-8-8071 Male FRANCE DMD 116 2727 ---069-1-81 Male FRANCE DMD 112 13 ---443-0-1 Male - DMD 1 134 ---069-0-1 Male - DMD 6 2786 ---069-2-2 Female - Symptomatic carrier 6 2787 ---069-1-2 Female - Symptomatic carrier 6 1021 ---048-1-1 Male FRANCE DMD 1 1656 ---217-3-01 Male FRANCE DMD 106 2326 ---061-2-61 Male FRANCE DMD 110 1720 ---224-0-4171 Male FRANCE DMD 119 372 ---041-0-1 Male - DMD 1 373 ---048-0-1 Male FRANCE DMD 1 374 ---417-0-1 Male FRANCE DMD 1 1022 ---048-2-1 Male FRANCE DMD 1 443 ---253-0-1 Male - BMD 1 998 ---041-1-1 Male FRANCE DMD 119 1023 ---048-3-1 Male FRANCE DMD 1 2942 ---069-2-2 Female - Symptomatic carrier 6 2943 ---069-1-2 Female - Symptomatic carrier 6 3064 ---010-0-1 Male - IMD 1 3514 ---964-0-1 Male FRANCE DMD 1 3523 ---811-0-1 Male FRANCE DMD 119 3524 ---811-0-2 Female FRANCE Symptomatic carrier 1
p.Phe32_Lys2400del	c.94_7200del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 49	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3532 ---990-0-1 Male FRANCE DMD 1
p.Phe32GlyfsX3	c.94_8027del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 54	Fr.	Stop at 34	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1537 ---019-0-41 Male FRANCE DMD 112 2311 ---019-0-91 Male FRANCE DMD 112
p.Phe32_Gln277del	c.94_831del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 8	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2420 ---026-4-11 Male FRANCE DMD 126 2421 ---026-4-21 Male FRANCE Pending 126 2628 ---001-0-11 Male FRANCE BMD 128
p.Phe32_Gln320del	c.94_960del	3	32	Actin binding domain		Large rearrangement Deletion from exon 3 to 9	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 448 ---176-0-1 Male - BMD 1 449 ---176-1-1 Male - BMD 1 3488 ---098-0-1 Male FRANCE BMD 1
p.Lys31_Phe32ins289AA	c.94_961dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 9	InF	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1687 ---305-3-5951 Male FRANCE Pending 116 3274 ---434-0-1 Male FRANCE Pending 1
	c.IVS2-1G>A (c.94-1G>A)	3	32			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2650 ---452-2-41 Male FRANCE Pending 106 664 ---262-0-1 Male - BMD 10
	c.IVS2-2A>T (c.94-2A>T)	3	32			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1591 ---216-2-01 Male FRANCE Pending 100
	c.IVS3+1G>A (c.186+1G>A)	3	32			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 973 ---327-0-1 Male - DMD 1
p.Asn39LysfsX5	c.116dup	3	39	Actin binding domain		Small rearrangement	Fr.	Stop at 43	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1001 ---603-0-1 Male - DMD 10
p.Leu44ArgfsX46	c.127_130dup	3	44	Actin binding domain		Small rearrangement	Fr.	Stop at 89	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3330 ---876-0-1 Male FRANCE DMD 1
p.Asp46Val	c.137A>T	3	46	Actin binding domain		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3143 ---475-0-1 Male FRANCE BMD 1 3171 ---475-1-1 Male FRANCE BMD 1
p.Arg48GlufsX41	c.141dup	3	48	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3202 ---240-0-1 Male FRANCE DMD 1
p.Gln60AlafsX29	c.177dup	3	60	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3129 ---121-0-1 Male FRANCE DMD 1
p.Pro63_Lys494del	c.187_1482del	4	63	Actin binding domain		Large rearrangement Deletion from exon 4 to 12	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 519 ---022-1-1 Male - BMD 1 520 ---022-0-1 Male - BMD 1
p.Pro63_Lys534del	c.187_1602del	4	63	Actin binding domain		Large rearrangement Deletion from exon 4 to 13	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2772 ---207-3-0291 Male FRANCE BMD 121 1806 ---012-1-11 Male FRANCE DMD 115
p.Leu62_Pro63ins26AA	c.187_265dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 4	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1361 ---739-0-1 Male - BMD 1
p.Pro63PhefsX14	c.187_2803del	4	63	Actin binding domain		Large rearrangement Deletion from exon 4 to 21	Fr.	Stop at 76	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2020 ---828-4-3851 Male FRANCE DMD 117
p.Pro63MetfsX13	c.187_649del	4	63	Actin binding domain		Large rearrangement Deletion from exon 4 to 7	Fr.	Stop at 75	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2815 ---682-0-1 Male - DMD 1 2971 ---682-0-1 Male - DMD 1
p.Asp217AlafsX26	c.187_650dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 7	Fr.	Stop at 242	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 377 ---288-0-1 Male - DMD 1
p.Leu62_Pro63ins215AA	c.187_832dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 8	Fr.	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1259 ---339-0-1 Male - BMD 1 1261 ---339-1-2 Female - Symptomatic carrier 1
	c.IVS3-1G>C (c.187-1G>C)	4	63			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 851 ---062-0-1 Male - BMD 10
	c.IVS3-2A>G (c.187-2A>G)	4	63			Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2593 ---201-E-21 Male FRANCE BMD 114 2292 ---186-0-m1 Male FRANCE BMD 114 2297 ---201-0-41 Male FRANCE BMD 114
p.Glu65LysfsX10	c.193delG	4	65	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 671 ---081-0-1 Male - BMD 1
p.Lys66X	c.196A>T	4	66	Actin binding domain		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3491 ---753-0-1 Male FRANCE DMD 1
p.Gly67AspfsX8	c.198delA	4	66	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2382 ---302-6-11 Male FRANCE DMD 106
p.Gly67X	c.199G>T	4	67	Actin binding domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3102 ---118-0-1 Male FRANCE DMD 1
p.Ala80SerfsX9	c.238insA	4	80	Actin binding domain		Small rearrangement	Fr.	Stop at 88	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3142 ---030-0-1 Male FRANCE DMD 1
p.Gln85X	c.253C>T	4	85	Actin binding domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3026 ---591-0-1 Male - DMD 10 3150 ---040-0-1 Male FRANCE IMD 1 2445 ---040-1-1 Male FRANCE IMD 1
p.Asn88_Val89ins295AA	c.265_1150dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 10	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2317 ---046-5-41 Male FRANCE DMD 112
p.Val89PhefsX3	c.265_1331del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 11	Fr.	Stop at 91	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1552 ---036-5-41 Male FRANCE DMD 112 50 ---060-0-1 Male - DMD 1
p.Asn444LysfsX4	c.265_1332dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 11		Stop at 447	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2587 ---036-9-m2 Female FRANCE Symptomatic carrier 114
p.Asn88_Val89ins406AA	c.265_1483dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 12	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2106 ---050-8-m1 Male FRANCE BMD 114
p.Asp90GlyfsX3	c.265_2168del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 17	Fr.	Stop at 92	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 168 ---379-0-1 Male - DMD 1 169 ---379-1-1 Male - DMD 1
p.Asp725IlefsX2	c.265_2169dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 17	Fr.	Stop at 726	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2056 ---059-0-01 Male FRANCE BMD 122 135 ---132-0-1 Male - DMD 1
p.Val89_Asn764del	c.265_2292del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 18	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1713 ---215-8-3631 Male FRANCE Pending 119
p.Ile935SerfsX2	c.265_2804dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 21	Fr.	Stop at 936	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3530 ---342-0-1 Male FRANCE DMD 1
p.Asn88_Val89ins31AA	c.265_358dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 5	Fr.	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2322 ---055-1-01 Male FRANCE BMD 112 2323 ---055-3-21 Male FRANCE BMD 112
p.Val89_Lys2039del	c.265_6117del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 42	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2105 ---048-0-m1 Male FRANCE Pending 114
p.Val89MetfsX13	c.265_649del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 7	Fr.	Stop at 101	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2505 ---780-0-Y11 Male ISRAEL DMD 121 1886 ---107-3-01 Male FRANCE Pending 115 2121 ---054-8-22 Female FRANCE Symptomatic carrier 110 2142 ---093-6-m1 Male FRANCE DMD 114 2210 ---198-3-m1 Male FRANCE DMD 114 2211 ---198-4-m1 Male FRANCE DMD 114 1828 ---038-2-21 Male FRANCE Pending 115 1836 ---046-4-61 Male FRANCE DMD 115 1851 ---061-5-41 Male FRANCE BMD 115 2357 ---057-8-01 Male FRANCE DMD 112 2457 ---066-0-31 Male FRANCE DMD 122 2633 ---006-0-61 Male FRANCE DMD 128 2676 ---203-1-0261 Male FRANCE DMD 121 26 ---198-0-1 Male - DMD 1 362 ---198-1-1 Male - DMD 1 1694 ---189-1-2411 Male FRANCE DMD 116 701 ---583-0-1 Male - DMD 1 2790 ---198-2-1 Male - DMD 1 1394 ---332-0-1 Male - DMD 1 2946 ---198-2-1 Male - DMD 1 3442 ---789-0-1 Male FRANCE DMD 1 3522 ---979-0-1 Male FRANCE DMD 1
p.Asp217GlyfsX2	c.265_650dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 7	Fr.	Stop at 218	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2123 ---056-4-01 Male FRANCE DMD 110 2152 ---110-9-A1 Male FRANCE DMD 114 2750 ---105-8-91 Male FRANCE DMD 112 378 ---432-0-1 Male - DMD 1 3327 ---771-0-2 Female SPAIN Symptomatic carrier 1 3328 ---771-0-2 Female SPAIN Symptomatic carrier 1
p.Val89_Gln2366del	c.265_7098del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 48	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 956 ---667-0-1 Male - DMD 1
p.Val89_Gln320del	c.265_960del	5	89	Actin binding domain		Large rearrangement Deletion from exon 5 to 9	InF	In frame del	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2061 ---074-0-71 Male FRANCE BMD 122 1885 ---106-1-41 Male FRANCE BMD 115 521 ---109-0-1 Male - BMD 1 522 ---109-1-1 Male - BMD 1 523 ---137-0-1 Male - BMD 1 3306 ---934-0-1 Male FRANCE BMD 1
	c.IVS4-463A>G (c.265-463A>G)	5	89			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2917 ---301-0-1 Male FRANCE BMD 1
	c.IVS5+1G>A (c.357+1G>A)	5	119			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3101 ---718-1-1 Male FRANCE DMD 1
	c.IVS5+1G>C (c.357+1G>C)	5	119			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3100 ---718-0-1 Male FRANCE DMD 10
p.Val120_Glu383del	c.358_1149del	6	120	Actin binding domain		Large rearrangement Deletion from exon 6 to 10	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1829 ---039-3-41 Male FRANCE DMD 115
p.Val120_Lys494del	c.358_1482del	6	120	Actin binding domain		Large rearrangement Deletion from exon 6 to 12	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1044 ---656-0-1 Male - DMD 1
p.Val120_Lys534del	c.358_1602del	6	120	Actin binding domain		Large rearrangement Deletion from exon 6 to 13	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1676 ---013-0-1 Male - IMD 1 1677 ---013-1-1 Male - IMD 1
p.Val120MetfsX13	c.358_649del	6	120	Actin binding domain		Large rearrangement Deletion from exon 6 to 7	Fr.	Stop at 132	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2358 ---058-8-01 Male FRANCE DMD 112 2759 ---058-1-41 Male FRANCE DMD 112 170 ---311-1-1 Male SAUDI ARABIA DMD 1 1325 ---311-0-1 Male SAUDI ARABIA DMD 1
p.Asp217GlyfsX18	c.358_650dup	6	120	Actin binding domain		Large rearrangement Duplication from exon 6 to 7	Fr.	Stop at 234	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2749 ---104-3-61 Male FRANCE DMD 112
	c.IVS5-1G>A (c.358-1G>A)	6	120			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1932 ---061-4-41 Male FRANCE DMD 106
	c.IVS5-2A>G (c.358-2A>G)	6	120			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1604 ---254-4-41 Male FRANCE DMD 100
p.Val123delinsVal	c.368dup	6	123	Actin binding domain		Small rearrangement	Fr.	Ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3139 ---549-0-1 Male FRANCE DMD 1
p.Met124IlefsX18	c.372delG	6	124	Actin binding domain		Small rearrangement	Fr.	Stop at 141	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1091 ---033-0-1 Male - DMD 10
p.Ile127HisfsX10	c.379_380delAT	6	127	Actin binding domain		Small rearrangement	Fr.	Stop at 136	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3005 ---743-0-1 Male - BMD 1 3006 ---743-1-1 Male - BMD 1
p.Gln133X	c.397C>T	6	133	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2298 ---205-A-41 Male FRANCE DMD 114 2660 ---509-5-51 Male FRANCE Pending 106
p.Arg145X	c.433C>T	6	145	Actin binding domain		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1413 ---140-6-51 Male FRANCE DMD 100 2495 ---096-0-91 Male FRANCE DMD 106 2657 ---140-6-42 Female FRANCE Symptomatic carrier 106 2699 ---506-4-71 Male FRANCE DMD 106 2700 ---506-4-61 Male FRANCE DMD 106 3147 ---728-0-1 Male FRANCE DMD 1 3578 ---989-0-1 Male ALGERIA DMD 1
p.Ser147X	c.440C>A	6	147	Actin binding domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 639 ---066-0-1 Male - DMD 10
p.Gln153ThrfsX3	c.455dup	6	152	Actin binding domain		Small rearrangement	Fr.	Stop at 155	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3031 ---801-0-1 Male - DMD 10
p.Phe159HisfsX6	c.475_476delTT	6	159	Actin binding domain		Small rearrangement	Fr.	Stop at 164	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1362 ---745-0-1 Male 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 Biological significance Geographic origin Mutation type References 3007 ---714-0-1 Male FRANCE BMD 1
p.Arg177_Asn444delinsSer	c.531_1331del	6-7	177	Actin binding domain		Large rearrangement Deletion from exon 7 to 11	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 524 ---159-0-1 Male - BMD 1
p.Pro178TyrfsX48	c.531_1602del	6-7	177	Actin binding domain		Large rearrangement Deletion from exon 7 to 13	Fr.	Stop at 225	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3381 ---020-0-1 Male FRANCE DMD 1
p.Val605AlafsX5	c.531_1813dup	6-7	177	Actin binding domain		Large rearrangement Duplication from exon 7 to 15	Fr.	Stop at 609	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1390 ---047-0-1 Male - DMD 1 1391 ---047-1-1 Male - DMD 1
p.Pro178CysfsX2	c.531_649del	6-7	177	Actin binding domain		Large rearrangement Deletion from exon 7 to 7	Fr.	Stop at 179	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2077 ---006-5-m1 Male FRANCE DMD 114 171 ---109-0-1 Male FRANCE DMD 1 1016 ---109-1-1 Male FRANCE DMD 1 2941 ---109-0-2 Female FRANCE Pending 1
p.Asp217GlyfsX31	c.531_650dup	6-7	177	Actin binding domain		Large rearrangement Duplication from exon 7 to 7	Fr.	Stop at 247	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3055 ---758-0-1 Male - BMD 1 3579 ---101-3-11 Male FRANCE DMD 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 Biological significance Geographic origin Mutation type References 2761 ---508-5-41 Male 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 Biological significance Geographic origin Mutation type References 2768 ---349-9-22 Female 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 Biological significance Geographic origin Mutation type References 3154 ---175-0-1 Male FRANCE DMD 1 3410 ---175-0-2 Female 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 Biological significance Geographic origin Mutation type References 966 ---626-0-1 Male FRANCE DMD 10
p.Gln190X	c.568C>T	7	190	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3118 ---818-0-1 Male FRANCE DMD 1
p.Ser191X	c.572C>G	7	191	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1504 ---021-3-81 Male FRANCE DMD 111
p.Gln194X	c.580C>T	7	194	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2285 ---174-0-31 Male FRANCE Pending 114
p.Arg195X	c.583C>T	7	195	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2245 ---044-1-m1 Male FRANCE BMD 114 2835 ---100-4-11 Male FRANCE DMD 1
p.Tyr205X	c.615T>A	7	205	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 679 ---551-0-1 Male INDIA DMD 10
p.Glu216X	c.644dup	7	215	Actin binding domain		Small rearrangement	Fr.	Stop at 216	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2258 ---084-C-11 Male FRANCE DMD 114
p.Asp217ValfsX6	c.650_1331del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 11	Fr.	Stop at 222	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2397 ---004-0-91 Male FRANCE Pending 126 2398 ---004-0-31 Male FRANCE Pending 126 3435 ---133-0-1 Male FRANCE DMD 1 3436 ---133-1-1 Male FRANCE DMD 1
p.Asn444LysfsX3	c.650_1332dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 11	Fr.	Stop at 446	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1572 ---177-4-61 Male FRANCE DMD 100 381 ---052-0-1 Male - DMD 1 382 ---077-0-1 Male - DMD 1 1026 ---052-1-1 Male - DMD 1 1189 ---077-1-1 Male - DMD 1 3567 ---100-0-11 Male ARGENTINA DMD 1
p.Asp217GlyfsX24	c.650_1482del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 12	Fr.	Stop at 240	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 54 ---157-0-1 Male - DMD 1 177 ---026-0-1 Male - DMD 1 760 ---579-0-1 Male - DMD 1
p.Val495MetfsX13	c.650_1483dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 12	Fr.	Stop at 507	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1581 ---195-4-61 Male FRANCE DMD 100 185 ---010-0-1 Male - DMD 1 1623 ---157-2-81 Male FRANCE DMD 106 3192 ---891-0-1 Male - DMD 1
p.Asp217GlyfsX11	c.650_1602del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 13	Fr.	Stop at 227	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1543 ---025-1-81 Male FRANCE DMD 112 1566 ---166-9-11 Male LEIBANON DMD 106 2190 ---164-3-m1 Male FRANCE DMD 114 2201 ---183-A-91 Male FRANCE DMD 114 2202 ---183-X-01 Male FRANCE DMD 114 155 ---179-0-1 Male - DMD 1 1700 ---209-6-3871 Male FRANCE DMD 116 1320 ---179-1-1 Male - DMD 1
p.Val535MetfsX13	c.650_1603dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 13	Fr.	Stop at 547	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2040 ---031-0-31 Male FRANCE IMD 122 2041 ---031-0-41 Male FRANCE DMD 122 1626 ---005-5-61 Male FRANCE DMD 106
p.Asp217GlyfsX30	c.650_1812del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 15	Fr.	Stop at 246	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2178 ---135-3-m1 Male FRANCE DMD 114 3253 ---063-0-1 Male FRANCE DMD 1
p.Val605MetfsX13	c.650_1813dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 15	Fr.	Stop at 617	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 384 ---228-0-1 Male - DMD 1
p.Val218PhefsX54	c.650_1992del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 16	Fr.	Stop at 271	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2116 ---049-5-61 Male FRANCE Pending 110 2183 ---152-B-81 Male FRANCE DMD 114 178 ---012-0-1 Male - DMD 1 179 ---039-0-1 Male - DMD 1 3375 ---107-0-1 Male FRANCE DMD 119
p.Ile665MetfsX13	c.650_1993dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 16	Fr.	Stop at 677	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 136 ---224-0-1 Male - DMD 1 385 ---260-0-1 Male - DMD 1
p.Asp217GlyfsX6	c.650_2168del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 17	Fr.	Stop at 222	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1472 ---013-0-31 Male FRANCE Pending 110 180 ---076-0-1 Male - DMD 1 888 ---016-1-1 Male - DMD 1 889 ---016-0-1 Male - DMD 1 3383 ---011-0-1 Male FRANCE DMD 1 3438 ---961-0-1 Male FRANCE DMD 1
p.Leu724CysfsX2	c.650_2169dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 17	Fr.	Stop at 725	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 386 ---370-0-1 Male - DMD 1 387 ---370-1-1 Male - DMD 1
p.Asp217GlyfsX8	c.650_2292del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 18	Fr.	Stop at 224	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1519 ---153-9-31 Male FRANCE DMD 106 3489 ---116-0-1 Male FRANCE DMD 1
p.Ala765MetfsX13	c.650_2293dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 18	Fr.	Stop at 777	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 40 ---129-0-1 Male - DMD 1
p.Asp217_Asn793del	c.650_2380del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 19	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2110 ---263-0-1 Male FRANCE DMD 1
p.Asp217GlufsX12	c.650_3162del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 23	Fr.	Stop at 228	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2114 ---047-5-81 Male FRANCE Pending 110 3478 ---972-0-1 Male FRANCE DMD 1 2842 ---972-1-1 Male FRANCE DMD 1
p.Asn1055MetfsX13	c.650_3163dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 23	Fr.	Stop at 1067	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2086 ---017-3-m1 Male FRANCE DMD 114
p.Asp217GlyfsX33	c.650_3432del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 25	Fr.	Stop at 249	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 182 ---298-1-1 Male - DMD 1 183 ---298-0-1 Male - DMD 1
p.Asp217GlyfsX8	c.650_3786del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 27	Fr.	Stop at 224	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1956 ---023-1-91 Male FRANCE DMD 106
p.Asp217GlyfsX9	c.650_4071del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 29	Fr.	Stop at 225	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1872 ---093-3-91 Male FRANCE DMD 115 3552 ---629-0-1 Male FRANCE DMD 1 3553 ---629-1-1 Male FRANCE DMD 1 3581 ---629-2-1 Male FRANCE Pending 1
p.Asp217GlufsX5	c.650_4233del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 30	Fr.	Stop at 221	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2417 ---023-3-11 Male FRANCE Pending 126 2686 ---222-2-431 Male FRANCE DMD 115
p.Asp217GlyfsX12	c.650_5325del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 37	Fr.	Stop at 228	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1962 ---016-1-31 Male FRANCE DMD 106
p.Asp217GlufsX5	c.650_6117del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 42	Fr.	Stop at 221	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1595 ---227-2-41 Male FRANCE DMD 106
p.Asp217GlyfsX17	c.650_6290del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 43	Fr.	Stop at 233	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2047 ---041-0-01 Male FRANCE DMD 122 184 ---362-0-1 Male - DMD 1 3297 ---860-0-1 Male FRANCE DMD 1
p.Asp217GlyfsX76	c.650_6438del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 44	Fr.	Stop at 292	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2492 ---074-4-11 Male FRANCE DMD 127
p.Val218HisfsX9	c.650_831del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 8	Fr.	Stop at 226	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 52 ---187-0-1 Male - DMD 119 1776 ---157-0-0091 Male FRANCE DMD 116
p.Asp217AlafsX6	c.650_960del	7-8	217	Actin binding domain		Large rearrangement Deletion from exon 8 to 9	Fr.	Stop at 222	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1466 ---266-5-71 Male FRANCE DMD 106 1565 ---162-0-11 Male FRANCE DMD 106 2698 ---238-5-432 Female FRANCE Symptomatic carrier 115 51 ---170-0-1 Male FRANCE DMD 1 53 ---475-0-1 Male - DMD 1 172 ---079-0-1 Male - DMD 1 173 ---044-0-1 Male - DMD 1 175 ---130-0-1 Male - DMD 1 3000 ---079-1-1 Male - DMD 1 3405 ---020-0-1 Male FRANCE DMD 1 3511 ---411-0-1 Male FRANCE IMD 1
p.His321MetfsX13	c.650_961dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 9	Fr.	Stop at 333	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2026 ---415-0-01 Male FRANCE DMD 106 2031 ---008-0-41 Male FRANCE DMD 122 2032 ---008-0-51 Male FRANCE DMD 122 2072 ---001-1-A1 Male FRANCE DMD 114 2188 ---162-5-MA1 Male FRANCE IMD 114 1779 ---109-6-1061 Male FRANCE DMD 119 380 ---093-0-1 Male FRANCE DMD 1 3394 ---043-0-1 Male FRANCE DMD 1 3434 ---534-0-1 Male FRANCE DMD 1
	c.IVS7+2T>C (c.649+2T>C)	7-8	217			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3151 ---414-0-1 Male - BMD 1
p.Val218Gly	c.653T>G	8	218	Actin binding domain		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3583 ---999-0-1 Male 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 Biological significance Geographic origin Mutation type References 1363 ---746-0-1 Male - BMD 1 2108 ---937-0-1 Male SPAIN BMD 1
p.Met230SerfsX14	c.689delT	8	230	Actin binding domain		Small rearrangement	Fr.	Stop at 243	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3004 ---701-0-1 Male - DMD 10
p.Gln249X	c.745C>T	8	249			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2270 ---142-D-11 Male 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 Biological significance Geographic origin Mutation type References 2512 ---523-I-71 Male FRANCE BMD 121 2513 ---523-R-91 Male FRANCE BMD 121
	c.IVS8-15A>G (c.832-15A>G)	9	278			Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2390 ---151-9-71 Male FRANCE DMD 100 2694 ---151-9-11 Male FRANCE DMD 106
p.Arg295X	c.883C>T	9	295	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2929 ---125-0-1 Male 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 Biological significance Geographic origin Mutation type References 2279 ---153-7-A1 Male 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 Biological significance Geographic origin Mutation type References 2362 ---243-3-71 Male 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 Biological significance Geographic origin Mutation type References 3091 ---178-0-1 Male - BMD 1
p.Ser319X	c.956C>G	9	319	CRD-hinge region #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1415 ---159-9-81 Male FRANCE DMD 100
p.His321PhefsX3	c.961_1331del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 11	Fr.	Stop at 323	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1957 ---028-1-51 Male FRANCE DMD 106 2452 ---113-7-81 Male LEIBANON DMD 106 2458 ---066-0-31 Male FRANCE DMD 122 57 ---033-0-1 Male FRANCE DMD 1 58 ---147-0-1 Male - DMD 1 59 ---347-0-1 Male - DMD 1 186 ---171-0-1 Male - DMD 1 187 ---496-0-1 Male - DMD 1 3321 ---876-0-1 Male FRANCE DMD 1 3323 ---648-0-1 Male FRANCE DMD 1 3418 ---640-0-1 Male FRANCE DMD 1 3419 ---640-1-1 Male FRANCE DMD 1 3499 ---906-0-1 Male FRANCE DMD 1
p.Leu445IlefsX14	c.961_1332dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 11	Fr.	Stop at 458	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2478 ---094-4-01 Male FRANCE DMD 127 137 ---236-0-1 Male - DMD 1 3534 ---025-0-1 Male FRANCE DMD 1 3559 ---023-0-1 Male FRANCE DMD 1
p.His321_Lys494del	c.961_1482del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 12	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2760 ---114-1-21 Male FRANCE BMD 112
p.His321_Lys534del	c.961_1602del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 13	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2696 ---213-2-852 Female FRANCE Symptomatic carrier 115 505 ---373-0-1 Male - BMD 1
p.His321_Gln664del	c.961_1992del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 16	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3544 ---683-0-1 Male FRANCE BMD 1
p.His321ValfsX4	c.961_2168del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 17	Fr.	Stop at 324	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 188 ---096-0-1 Male FRANCE DMD 1
p.Arg723SerfsX15	c.961_2169dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 17	Fr.	Stop at 737	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 138 ---064-0-1 Male - DMD 1
p.His321_Asn764del	c.961_2292del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 18	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 509 ---479-0-1 Male - BMD 1
p.Gln320_His321ins473AA	c.961_2380dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 19	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 388 ---298-0-1 Male - DMD 1
p.His321PhefsX14	c.961_2803del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 21	Fr.	Stop at 334	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2057 ---065-0-11 Male FRANCE Pending 122 2058 ---065-0-21 Male FRANCE Pending 122
p.Ile935ThrfsX6	c.961_2804dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 21	Fr.	Stop at 940	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2027 ---401-1-91 Male FRANCE DMD 106 3426 ---839-0-1 Male FRANCE DMD 1
p.His321_Asp1307del	c.961_3921del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 28	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 525 ---272-0-1 Male - BMD 1
p.His321_Glu1357del	c.961_4071del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 29	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3046 ---759-0-1 Male - BMD 1
p.His321_Gln1411del	c.961_4233del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 30	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1994 ---093-1-981 Male FRANCE BMD 117 2627 ---423-1-41 Male FRANCE BMD 106 2316 ---041-7-11 Male FRANCE BMD 112
p.His321_Lys1615del	c.961_4845del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 34	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1711 ---146-9-1551 Male FRANCE Pending 116 507 ---185-0-1 Male - BMD 1
p.Gln320_His321ins1455AA	c.961_5326dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 37	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 635 ---482-0-1 Male - BMD 1
p.His321_Met1816del	c.961_5448del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 38	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 526 ---167-0-1 Male FRANCE BMD 1
p.His321_Ile1974del	c.961_5922del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 41	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 422 ---152-0-1 Male FRANCE DMD 1
p.His321_Lys2039del	c.961_6117del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 42	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 189 ---054-0-1 Male - DMD 1 190 ---054-1-1 Male - DMD 1
p.His321AlafsX3	c.961_6290del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 43	Fr.	Stop at 323	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 60 ---145-0-1 Male - DMD 1 156 ---182-0-1 Male FRANCE DMD 1 192 ---219-0-1 Male - DMD 1 1742 ---217-0-3681 Male FRANCE DMD 119 2827 ---145-1-1 Male - DMD 1 2983 ---145-1-1 Male - DMD 1
p.His321_Lys2146del	c.961_6438del	10	321	CRD-hinge region #1		Large rearrangement Deletion from exon 10 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1915 ---056-9-m011 Male - DMD 113
	c.IVS9-5831C>T (c.961-5831C>T)	10	321			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 692 ---010-0-1 Male FRANCE BMD 4 3205 ---010-1-1 Male FRANCE BMD 4
	c.IVS9-5925A>C (c.961-5925A>C)	10	321			Small rearrangement	Tv	A->C	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1459 ---306-7-01 Male FRANCE BMD 124 2459 ---306-1-31 Male FRANCE BMD 106
p.Leu322X	c.965T>A	10	322	CRD-hinge region #1		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3037 ---088-0-2 Male 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 Biological significance Geographic origin Mutation type References 3550 ---058-0-1 Male FRANCE DMD 1
p.Ser329X	c.986C>G	10	329	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3094 ---026-0-1 Male - DMD 1
p.Ser333X	c.998C>A	10	333	CRD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1297 ---280-0-1 Male FRANCE DMD 10 1298 ---280-1-1 Male FRANCE DMD 1
p.Gln365X	c.1093C>T	10	365	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1416 ---163-9-51 Male 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 Biological significance Geographic origin Mutation type References 2654 ---456-2-51 Male FRANCE DMD 106
p.Asn444LysfsX4	c.1150_1332dup	11	384	CRD-repeat #1		Large rearrangement Duplication from exon 11 to 11	Fr.	Stop at 447	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3040 ---753-0-1 Male - DMD 1
p.Gly384_Asn764del	c.1150_2292del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 18	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2482 ---020-5-31 Male FRANCE BMD 127
p.Gly384_Glu1262del	c.1150_3786del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 27	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 508 ---190-0-1 Male - BMD 1 2797 ---190-1-1 Male - BMD 1 2953 ---190-1-1 Male - BMD 1
p.Gly384_Glu1357del	c.1150_4071del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 29	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1979 ---070-4-61 Male FRANCE BMD 106 1980 ---070-4-31 Male FRANCE BMD 106 2645 ---029-4-11 Male FRANCE BMD 126
p.Gly384_Gln1411del	c.1150_4233del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 30	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3305 ---691-0-1 Male FRANCE BMD 1
p.Gly384_Lys1775del	c.1150_5325del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 37	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2128 ---067-F-11 Male FRANCE Pending 114
p.Gly384_Ile1974del	c.1150_5922del	11	384	CRD-repeat #1		Large rearrangement Deletion from exon 11 to 41	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2630 ---003-0-31 Male FRANCE BMD 128
p.Gly403X	c.1207G>T	11	403	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3477 ---949-0-1 Male FRANCE DMD 1
p.Lys411X	c.1231A>T	11	411	CRD-repeat #1		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3476 ---722-0-1 Male FRANCE DMD 1
p.Leu412TyrfsX13	c.1235delT	11	412	CRD-repeat #1		Small rearrangement	Fr.	Stop at 424	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3137 ---762-0-1 Male FRANCE DMD 1
p.Ser413X	c.1238C>A	11	413	CRD-repeat #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2269 ---137-0-11 Male FRANCE DMD 114
p.Gln421X	c.1261C>T	11	421	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2251 ---072-0-31 Male FRANCE DMD 114
p.Ser429X	c.1286C>G	11	429	CRD-repeat #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3061 ---760-0-1 Male - DMD 1
p.Trp431X	c.1292G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 709 ---505-0-1 Male FRANCE DMD 10
p.Trp431X	c.1293G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2355 ---360-8-51 Male FRANCE DMD 106 3213 ---802-0-2 Female - Symptomatic carrier 1
p.Glu432GlyfsX7	c.1294dup	11	432	CRD-repeat #1		Small rearrangement	Fr.	Stop at 438	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3015 ---571-0-1 Male - DMD 10
p.Asn444LysfsX7	c.1332_1482del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 12	Fr.	Stop at 450	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1488 ---030-2-11 Male FRANCE DMD 110 193 ---059-0-1 Male - DMD 1 1083 ---712-0-1 Male - DMD 1
p.Asn444LysfsX49	c.1332_1602del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 13	Fr.	Stop at 492	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 62 ---418-0-1 Male - DMD 1
p.Val535PhefsX3	c.1332_1603dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 13	Fr.	Stop at 537	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1564 ---161-9-71 Male - DMD 100 2722 ---062-3-51 Male FRANCE DMD 112
p.Asn444LysfsX13	c.1332_1992del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 16	Fr.	Stop at 456	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2552 ---164-0-011 Male FRANCE DMD 121 194 ---305-0-1 Male - DMD 1
p.Ile665PhefsX3	c.1332_1993dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 16	Fr.	Stop at 667	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1633 ---206-2-11 Male FRANCE DMD 106 389 ---446-0-1 Male - DMD 1
p.Asn444LysfsX3	c.1332_2292del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 18	Fr.	Stop at 446	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3512 ---493-0-1 Male FRANCE DMD 1
p.Asn444LysfsX21	c.1332_2949del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 22	Fr.	Stop at 464	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2775 ---218-3-0821 Male FRANCE DMD 121
p.Asn444LysfsX3	c.1332_4071del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 29	Fr.	Stop at 446	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2130 ---069-8-m1 Male FRANCE DMD 114 2384 ---320-7-61 Male FRANCE DMD 106
p.Ala1358PhefsX3	c.1332_4072dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 29		Stop at 1360	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3428 ---158-0-1 Male FRANCE BMD 1
p.Leu445ThrfsX8	c.1332_5922del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 41	Fr.	Stop at 452	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 699 ---555-0-1 Male - DMD 1
p.Asn444LysfsX3	c.1332_6117del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 42	Fr.	Stop at 446	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2029 ---004-0-21 Male FRANCE DMD 122
p.Asn444LysfsX17	c.1332_6438del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 44	Fr.	Stop at 460	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1548 ---031-9-01 Male FRANCE DMD 112 1954 ---003-0-21 Male FRANCE DMD 106
p.Asn444LysfsX24	c.1332_7542del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 51	Fr.	Stop at 467	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1805 ---011-1-91 Male FRANCE DMD 115
p.Asn444LysfsX25	c.1332_8217del	11-12	444	CRD-repeat #1		Large rearrangement Deletion from exon 12 to 55	Fr.	Stop at 468	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2060 ---071-0-51 Male FRANCE DMD 122
	c.IVS11+1G>T (c.1331+1G>T)	11-12	444			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3028 ---408-0-1 Male - DMD 10 3149 ---121-0-1 Male 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 Biological significance Geographic origin Mutation type References 1701 ---082-0-1 Male FRANCE DMD 10 3108 ---804-0-1 Male - DMD 1 3248 ---082-1-1 Male FRANCE DMD 1 3249 ---082-2-1 Male FRANCE DMD 1
p.Asp451Tyr	c.1351G>T	12	451	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3573 ---027-0-1 Male FRANCE BMD 1
p.Trp463X	c.1388G>A	12	463	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1417 ---189-2-71 Male FRANCE DMD 100
p.Glu476GlyfsX7	c.1426dup	12	476	CRD-repeat #2		Small rearrangement	Fr.	Stop at 482	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2369 ---095-F-51 Male FRANCE DMD 114
p.Gln492X	c.1474C>T	12	492	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3484 ---364-0-2 Female 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 Biological significance Geographic origin Mutation type References 1477 ---287-6-21 Male FRANCE DMD 106
p.Lys494_Val495ins170AA	c.1483_1993dup	13	495	CRD-repeat #2		Large rearrangement Duplication from exon 13 to 16		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3460 ---952-0-1 Male FRANCE Pending 1
p.Val495ArgfsX15	c.1483_2380del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 19	Fr.	Stop at 509	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2038 ---025-0-11 Male FRANCE DMD 122 2039 ---025-0-21 Male FRANCE DMD 122 2658 ---526-5-12 Female FRANCE Symptomatic carrier 106
p.Val495_Glu1357del	c.1483_4071del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 29	InF	In frame del	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 450 ---186-0-1 Male FRANCE BMD 7 3199 ---186-3-1 Male FRANCE BMD 7 3200 ---186-1-1 Male FRANCE Asymptomatic 7 3206 ---186-4-1 Male FRANCE Asymptomatic 7 3207 ---186-2-1 Male FRANCE Asymptomatic 7
p.Val495_Gln1411del	c.1483_4233del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 30	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1587 ---209-2-11 Male FRANCE BMD 106 1588 ---209-7-31 Male FRANCE BMD 106
p.Val495_Lys1775del	c.1483_5325del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 37	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1888 ---111-9-21 Male FRANCE Pending 115
p.Val495_Ile1974del	c.1483_5922del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 41	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2491 ---059-4-61 Male FRANCE DMD 127
p.Val495AlafsX3	c.1483_6290del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 43	Fr.	Stop at 497	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2447 ---053-6-71 Male FRANCE Pending 126
p.Val495_Lys2146del	c.1483_6438del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2157 ---119-B-31 Male FRANCE DMD 114
p.Val495_Lys2514del	c.1483_7542del	13	495	CRD-repeat #2		Large rearrangement Deletion from exon 13 to 51	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2205 ---191-E-11 Male FRANCE Pending 114
	c.IVS12-17A>G (c.1483-17A>G)	13	495			Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3509 ---823-0-1 Male FRANCE BMD 1 3510 ---823-1-1 Male FRANCE BMD 1
	c.IVS12-1G>C (c.1483-1G>C)	13	495			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3203 ---091-0-1 Male - BMD 1
	c.IVS13+1G>A (c.1602+1G>A)	13	495			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 959 ---230-0-1 Male FRANCE BMD 10
p.Val515GlyfsX4	c.1543dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3128 ---864-0-1 Male FRANCE DMD 1
p.Val516GlyfsX3	c.1544dup	13	515	CRD-repeat #2		Small rearrangement	Fr.	Stop at 518	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1638 ---352-8-91 Male FRANCE DMD 106
	c.IVS13+1G>T (c.1602+1G>T)	13	534			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2653 ---471-3-01 Male FRANCE BMD 106
p.Leu536GlyfsX3	c.1603_2168del	14	535	CRD-repeat #2		Large rearrangement Deletion from exon 14 to 17	Fr.	Stop at 538	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 63 ---193-0-1 Male - DMD 1 150 ---167-0-1 Male - DMD 1 196 ---260-0-1 Male - DMD 1 1754 ---C20-0-321 Male FRANCE DMD 116
p.Leu724TyrfsX48	c.1603_2169dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 17	Fr.	Stop at 771	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 139 ---090-0-1 Male - DMD 1 390 ---190-0-1 Male - DMD 1 391 ---269-0-1 Male - DMD 1
p.Lys534_Val535ins230AA	c.1603_2293dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 18	InF	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2724 ---064-2-71 Male FRANCE Pending 112 3387 ---916-0-1 Male FRANCE BMD 1
p.Lys534_Val535ins823AA	c.1603_4072dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 29		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3400 ---942-0-1 Male FRANCE BMD 1
p.Val535_Ile1974del	c.1603_5922del	14	535	CRD-repeat #2		Large rearrangement Deletion from exon 14 to 41	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1274 ---517-0-1 Male - BMD 1
p.Val535AlafsX3	c.1603_6290del	14	535	CRD-repeat #2		Large rearrangement Deletion from exon 14 to 43	Fr.	Stop at 537	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 197 ---118-0-1 Male FRANCE DMD 1 198 ---118-1-1 Male FRANCE DMD 1 698 ---548-0-2 Female - Symptomatic carrier 1
p.Lys534_Val535ins1612AA	c.1603_6439dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 44	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2454 ---246-3-91 Male SPAIN DMD 106
	c.IVS13-1G>A (c.1603-1G>A)	14	535			Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2596 ---CM2-C-41 Male BELGIUM DCM 106 2597 ---CM2-C-51 Male BELGIUM DCM 106 2595 ---CM2-0-41 Male BELGIUM DCM 106
	c.IVS13-2A>C (c.1603-2A>C)	14	535			Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1582 ---197-1-61 Male FRANCE BMD 124
p.Arg539X	c.1615C>T	14	539	CRD-repeat #2		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1418 ---236-3-11 Male FRANCE DMD 100 2644 ---236-7-92 Female FRANCE Symptomatic carrier 106 2238 ---023-A-41 Male FRANCE DMD 114 2239 ---023-A-81 Male FRANCE DMD 114
p.Asn542ThrfsX41	c.1625delA	14	542	CRD-repeat #2		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3138 ---401-0-1 Male FRANCE DMD 1
p.Trp551X	c.1653G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3452 ---935-0-1 Male FRANCE DMD 1
p.Trp561X	c.1683G>A	14	561	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3030 ---802-0-1 Male SPAIN DMD 10
p.Gln562AsnfsX21	c.1684delC	14	562	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2025 ---315-7-01 Male FRANCE DMD 106
	c.IVS14+1G>T (c.1704+1G>T)	14	568			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3090 ---795-0-1 Male SWITZERLAND BMD 1
p.Phe571LeufsX12	c.1713delT	15	571	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3116 ---768-0-1 Male FRANCE DMD 1 3450 ---768-1-1 Male FRANCE DMD 1
p.Ser576GlnfsX7	c.1726delT	15	576	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 708 ---250-0-1 Male - DMD 10
p.Thr588LeufsX19	c.1762delA	15	588	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1479 ---289-6-61 Male 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 Biological significance Geographic origin Mutation type References 3516 ---981-0-1 Male 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 Biological significance Geographic origin Mutation type References 3517 ---981-0-1 Male FRANCE DMD 1
p.Lys602AsnfsX5	c.1806delA	15	602	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2659 ---499-4-51 Male FRANCE Pending 106
p.Val605PhefsX2	c.1812delC	15	604	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1445 ---190-1-81 Male FRANCE DMD 100
	c.IVS15+601A>G (c.1812+601A>G)	15	604			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3402 ---896-0-1 Male FRANCE DMD 1
p.Ala604_Val605ins658AA	c.1813_3787dup	16	605	CRD-repeat #3		Large rearrangement Duplication from exon 16 to 27	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 435 ---408-0-1 Male FRANCE BMD 1
p.Ala604_Val605ins1542AA	c.1813_6439dup	16	605	CRD-repeat #3		Large rearrangement Duplication from exon 16 to 44	InF	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2731 ---076-5-11 Male FRANCE Pending 112
p.Leu606X	c.1817T>G	16	606	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3087 ---772-0-1 Male - DMD 1
p.Lys613GlufsX22	c.1835dup	16	612	CRD-repeat #3		Small rearrangement	Fr.	Stop at 634	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2910 ---129-0-1 Male 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 Biological significance Geographic origin Mutation type References 3092 ---769-0-1 Male 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 Biological significance Geographic origin Mutation type References 1736 ---245-1-4651 Male 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 Biological significance Geographic origin Mutation type References 2623 ---433-3-61 Male FRANCE DMD 106 989 ---841-0-1 Male - Pending 1
p.Gln664X	c.1990C>T	16	664	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3034 ---800-0-1 Male FRANCE DMD 10
p.Ile665ValfsX4	c.1993_2168del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 17	Fr.	Stop at 668	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 199 ---066-0-1 Male FRANCE DMD 1
p.Leu724PhefsX12	c.1993_2169dup	17	665	CRD-repeat #3		Large rearrangement Duplication from exon 17 to 17	Fr.	Stop at 735	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2143 ---094-0-MA1 Male TUNISIA DMD 114 3272 ---843-0-1 Male FRANCE Pending 1
p.Ile665PhefsX14	c.1993_2803del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 21	Fr.	Stop at 678	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3504 ---042-0-1 Male FRANCE DMD 1 3505 ---042-1-1 Male FRANCE DMD 1
p.Ile665_Arg1092del	c.1993_3276del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 24	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3537 ---484-0-1 Male FRANCE DMD 1
p.Ile665_Glu1357del	c.1993_4071del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 29	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3411 ---494-0-1 Male FRANCE BMD 1 3412 ---494-1-1 Male FRANCE Asymptomatic 1 3413 ---494-2-1 Male FRANCE BMD 1
p.Ile665_Lys1615del	c.1993_4845del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 34	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3448 ---974-0-1 Male FRANCE BMD 1
p.Ile665AlafsX3	c.1993_6290del	17	665	CRD-repeat #3		Large rearrangement Deletion from exon 17 to 43	Fr.	Stop at 667	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2176 ---133-E-31 Male FRANCE DMD 114 2192 ---168-F-11 Male FRANCE DMD 114 2193 ---168-F-21 Male FRANCE DMD 114
p.Gln664_Ile665ins1482AA	c.1993_6439dup	17	665	CRD-repeat #3		Large rearrangement Duplication from exon 17 to 44	InF	In frame ins	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2702 ---546-6-61 Male FRANCE Pending 106 3492 ---769-0-1 Male FRANCE BMD 1 3493 ---769-0-2 Female FRANCE Symptomatic carrier 1
p.Gln667X	c.1999C>T	17	667	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3103 ---272-0-1 Male 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 Biological significance Geographic origin Mutation type References 2710 ---822-4-8081 Male 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 Biological significance Geographic origin Mutation type References 3146 ---089-0-1 Male 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 Biological significance Geographic origin Mutation type References 2284 ---171-8-m1 Male 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 Biological significance Geographic origin Mutation type References 3271 ---921-0-1 Male FRANCE DMD 1
p.Leu724ProfsX2	c.2169_2292del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 18	Fr.	Stop at 725	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2320 ---053-4-71 Male FRANCE DMD 112 2673 ---233-9-4351 Male FRANCE DMD 116 3345 ---075-0-1 Male FRANCE DMD 1 3355 ---455-0-1 Male FRANCE DMD 1 3403 ---504-0-1 Male FRANCE DMD 1
p.Leu724ArgfsX15	c.2169_2379del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 19	Fr.	Stop at 738	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 64 ---157-0-1 Male - DMD 1
p.Arg723SerfsX3	c.2169_2803del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 21	Fr.	Stop at 725	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1662 ---077-5-91 Male FRANCE DMD 106
p.Leu724GlufsX13	c.2169_3603del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 26	Fr.	Stop at 736	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3482 ---969-0-1 Male FRANCE DMD 1
p.Glu1263ValfsX4	c.2169_3787dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 27	Fr.	Stop at 1266	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2742 ---095-7-81 Male FRANCE DMD 112
p.Ser1308ValfsX4	c.2169_3922dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 28	Fr.	Stop at 1311	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 157 ---367-0-1 Male - DMD 1
p.Ala1358ValfsX4	c.2169_4072dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 29	Fr.	Stop at 1361	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 392 ---010-1-1 Male FRANCE DMD 1 3464 ---010-0-1 Male FRANCE DMD 1
p.Asp725LeufsX12	c.2169_4845del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 34	Fr.	Stop at 736	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 65 ---040-0-1 Male - DMD 1
p.Ala1616ValfsX4	c.2169_4846dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 34	Fr.	Stop at 1619	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2118 ---051-5-01 Male FRANCE DMD 110 3382 ---019-1-1 Male FRANCE DMD 1
p.Leu724_Gly2097del	c.2169_6290del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 43	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2170 ---129-9-A1 Male FRANCE BMD 114
p.Leu724AsnfsX16	c.2169_6438del	17-18	723	CRD-repeat #4		Large rearrangement Deletion from exon 18 to 44	Fr.	Stop at 739	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2005 ---943-2-71 Male FRANCE DMD 117 2051 ---049-0-41 Male FRANCE DMD 122 2095 ---028-8-m1 Male FRANCE DMD 114 2585 ---028-2-m2 Female FRANCE Symptomatic carrier 114 2558 ---169-5-0531 Male FRANCE DMD 121 66 ---131-0-1 Male - DMD 119 67 ---174-0-1 Male - DMD 1
p.Glu2147ValfsX4	c.2169_6439dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 44	Fr.	Stop at 2150	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2741 ---093-8-71 Male FRANCE DMD 112
p.Arg737ProfsX23	c.2210delG	18	737	CRD-repeat #4		Small rearrangement	Fr.	Stop at 759	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2267 ---125-7-m1 Male FRANCE DMD 114
p.Gln743X	c.2227C>T	18	743	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2255 ---077-0-m1 Male FRANCE DMD 114 2913 ---104-0-1 Male FRANCE DMD 1 2915 ---104-0-2 Female 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 Biological significance Geographic origin Mutation type References 1447 ---027-1-41 Male 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 Biological significance Geographic origin Mutation type References 3337 ---582-0-1 Male FRANCE DMD 1
p.Glu761X	c.2281G>T	18	761	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1642 ---083-5-71 Male 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 Biological significance Geographic origin Mutation type References 688 ---103-0-1 Male 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 Biological significance Geographic origin Mutation type References 3114 ---727-0-1 Male - DMD 1
p.Ala765_Asn793del	c.2293_2379del	19	765	CRD-repeat #4		Large rearrangement Deletion from exon 19 to 19	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 202 ---309-0-1 Male - DMD 1 203 ---309-1-1 Male - DMD 1
p.Glu794GlyfsX8	c.2293_2381dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 19		Stop at 801	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3332 ---807-0-1 Male FRANCE IMD 1 3333 ---807-1-1 Male FRANCE IMD 1
p.Ala765PhefsX14	c.2293_2803del	19	765	CRD-repeat #4		Large rearrangement Deletion from exon 19 to 21	Fr.	Stop at 778	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1542 ---024-0-31 Male FRANCE DMD 112 2312 ---024-7-11 Male FRANCE DMD 112
p.Asn764_Ala765ins647AA	c.2293_4234dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 30		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2449 ---050-0-1 Male FRANCE DMD 1
p.Arg2098ProfsX2	c.2293_6291dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 43		Stop at 2099	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3299 ---164-0-1 Male FRANCE DMD 1
p.Ala765_Lys2146del	c.2293_6438del	19	765	CRD-repeat #4		Large rearrangement Deletion from exon 19 to 44	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2468 ---028-3-11 Male FRANCE BMD 127 1627 ---026-1-21 Male FRANCE DMD 106
p.Asn764_Ala765ins1382AA	c.2293_6439dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 44		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2571 ---157-8-3261 Male FRANCE DMD 116
p.Asn764_Ala765ins1750AA	c.2293_7543dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 51	Fr.	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2346 ---412-0-91 Male FRANCE BMD 106 2677 ---412-3-41 Male FRANCE Pending 106
	c.IVS18-1G>T (c.2293-1G>T)	19	765			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1508 ---025-0-21 Male FRANCE DMD 111
	c.IVS18-5del7a (c.2293-5del7a)	19	765			Small rearrangement	Tv	del7a	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3223 ---089-0-1 Male FRANCE DMD 1
p.Arg768X	c.2302C>T	19	768	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1419 ---259-5-41 Male FRANCE DMD 100 1506 ---037-0-31 Male FRANCE DMD 111 3549 ---449-0-2 Female 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 Biological significance Geographic origin Mutation type References 2766 ---511-5-11 Male FRANCE DMD 106
p.Arg782SerfsX14	c.2346insTTTTCTGC	19	782	CRD-repeat #4		Small rearrangement	Fr.	Stop at 795	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3352 ---887-0-1 Male ARGENTINA BMD 1 3354 ---887-1-1 Male 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 Biological significance Geographic origin Mutation type References 2310 ---887-0-1 Male ARGENTINA BMD 1 3353 ---887-1-1 Male ARGENTINA BMD 1
p.Gln790X	c.2368C>T	19	790	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2268 ---130-E-21 Male FRANCE DMD 114
p.Asn793Ser	c.2378A>G	19	793	CRD-repeat #4		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3494 ---315-0-1 Male FRANCE DMD 1
p.Asp875ArgfsX15	c.2381_2623dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 20	Fr.	Stop at 889	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2071 ---390-1-31 Male FRANCE DMD 106
p.Glu794GlyfsX33	c.2381_3432del	19-20	794	CRD-repeat #4		Large rearrangement Deletion from exon 20 to 25	Fr.	Stop at 826	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1964 ---029-1-71 Male FRANCE DMD 106 2147 ---579-0-1 Male FRANCE DMD 1
p.Ala1203ValfsX14	c.2381_3604dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 26	Fr.	Stop at 1216	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2480 ---061-5-51 Male FRANCE IMD 127 3502 ---597-0-2 Female FRANCE Symptomatic carrier 1
p.Glu794GlyfsX25	c.2381_5586del	19-20	794	CRD-repeat #4		Large rearrangement Deletion from exon 20 to 39	Fr.	Stop at 818	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 204 ---509-0-1 Male FRANCE DMD 1
p.Glu794AlafsX5	c.2381_5922del	19-20	794	CRD-repeat #4		Large rearrangement Deletion from exon 20 to 41	Fr.	Stop at 798	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 68 ---021-0-1 Male - DMD 1
p.Arg2098GlyfsX3	c.2381_6291dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 43	Fr.	Stop at 2100	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2639 ---497-4-92 Female FRANCE Symptomatic carrier 106
p.Glu794GlyfsX76	c.2381_6438del	19-20	794	CRD-repeat #4		Large rearrangement Deletion from exon 20 to 44	Fr.	Stop at 869	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3536 ---240-0-1 Male FRANCE DMD 1
p.Glu794GlyfsX7	c.2381_6912del	19-20	794	CRD-repeat #4		Large rearrangement Deletion from exon 20 to 47	Fr.	Stop at 800	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2783 ---791-4-821 Male FRANCE DMD 117
	c.IVS19-2A>G (c.2381-2A>G)	19-20	794			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2607 ---051-1-m1 Male FRANCE BMD 114
p.Gln803X	c.2407C>T	20	803	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3067 ---825-0-1 Male - DMD 1
p.Ser820ArgfsX25	c.2457_2460delAAGT	20	819	CRD-repeat #4		Small rearrangement	Fr.	Stop at 844	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1671 ---367-8-21 Male FRANCE DMD 106
p.Asn824X	c.2469dup	20	824	CRD-repeat #4		Small rearrangement	Fr.	Stop at 824	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2391 ---065-2-A1 Male FRANCE DMD 114
p.Gln841X	c.2521C>T	20	841	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1039 ---573-0-1 Male FRANCE DMD 10
p.Gln844X	c.2530C>T	20	844	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3115 ---836-0-1 Male 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 Biological significance Geographic origin Mutation type References 3359 ---922-0-1 Male SPAIN DMD 1
p.Leu853X	c.2558T>A	20	853	CRD-repeat #5		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1420 ---239-4-11 Male 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 Biological significance Geographic origin Mutation type References 3245 ---922-0-1 Male SPAIN DMD 1
	c.IVS20+1G>A (c.2622+1G>A)	20	874			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3093 ---538-0-1 Male - DMD 1
	c.IVS20+2T>G (c.2622+2T>G)	20	874			Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2290 ---184-0-61 Male FRANCE DMD 114
p.Asp875PhefsX14	c.2623_2803del	21	875	CRD-repeat #5		Large rearrangement Deletion from exon 21 to 21	Fr.	Stop at 888	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2158 ---121-B-21 Male FRANCE DMD 114 2637 ---012-0-31 Male FRANCE DMD 106 3364 ---883-0-1 Male FRANCE DMD 1 3466 ---862-0-2 Female ISRAEL Symptomatic carrier 1
p.Lys874_Asp875ins1865AA	c.2623_8218dup	21	875	CRD-repeat #5		Large rearrangement Duplication from exon 21 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 636 ---171-0-1 Male FRANCE DMD 1
p.Leu880MetfsX16	c.2624_2637dup	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 895	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3113 ---764-0-1 Male FRANCE DMD 1
p.Leu880TyrfsX11	c.2638delC	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 890	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 673 ---361-0-1 Male - DMD 10
p.Gly901X	c.2701G>T	21	901	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 961 ---554-0-1 Male FRANCE DMD 10
p.Gly903AspfsX46	c.2706delA	21	902	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2701 ---075-d-281 Male FRANCE DMD 113 1610 ---283-5-81 Male FRANCE DMD 106
p.Val921SerfsX28	c.2761delG	21	921	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3132 ---874-0-2 Female - Symptomatic carrier 1 3133 ---874-0-1 Male - DMD 1
p.Asn1055PhefsX14	c.2804_3163dup	21-22	935	CRD-repeat #6		Large rearrangement Duplication from exon 22 to 23	Fr.	Stop at 1068	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2347 ---418-1-11 Male FRANCE DMD 106
p.Ile935SerfsX9	c.2804_4071del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 29	Fr.	Stop at 943	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2097 ---030-F-21 Male FRANCE DMD 114 205 ---026-0-1 Male - DMD 1 3423 ---759-0-1 Male FRANCE DMD 1 3424 ---759-1-1 Male FRANCE DMD 1
p.Ile935LysfsX5	c.2804_4233del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 30	Fr.	Stop at 939	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2549 ---234-0-251 Male FRANCE DMD 121
p.Val1559PhefsX14	c.2804_4675dup	21-22	935	CRD-repeat #6		Large rearrangement Duplication from exon 22 to 33	Fr.	Stop at 1572	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1978 ---069-4-31 Male FRANCE DMD 106
p.Ile935SerfsX7	c.2804_4845del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 34	Fr.	Stop at 941	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1930 ---037-2-41 Male FRANCE DMD 106 1931 ---037-7-61 Male FRANCE DMD 106 2581 ---052-8-71 Male FRANCE DMD 127 3304 ---889-0-1 Male FRANCE DMD 1
p.Ile935ThrfsX5	c.2804_5922del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 41	Fr.	Stop at 939	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1768 ---138-5-3111 Male FRANCE DMD 119 1769 ---138-5-1251 Male FRANCE DMD 116
p.Ile935SerfsX17	c.2804_6290del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 43	Fr.	Stop at 951	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 206 ---073-0-1 Male - DMD 1 207 ---255-0-1 Male FRANCE DMD 1 208 ---255-1-1 Male FRANCE DMD 1 3255 ---255-2-1 Male FRANCE DMD 1
p.Ile935ArgfsX76	c.2804_6438del	21-22	935	CRD-repeat #6		Large rearrangement Deletion from exon 22 to 44	Fr.	Stop at 1010	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2690 ---231-3-861 Male FRANCE DMD 115
	c.IVS21-2A>C (c.2804-2A>C)	21-22	935			Small rearrangement	Tv	A->C	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1571 ---176-0-31 Male FRANCE DMD 100 980 ---670-0-1 Male FRANCE DMD 10 3575 ---670-1-1 Male FRANCE DMD 1 3576 ---670-0-2 Female 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 Biological significance Geographic origin Mutation type References 2809 ---664-0-1 Male - DMD 10 2965 ---664-0-1 Male - DMD 10 3557 ---055-0-1 Male 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 Biological significance Geographic origin Mutation type References 1636 ---329-7-91 Male FRANCE DMD 106
p.Gln945X	c.2833C>T	22	945	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2383 ---309-7-21 Male FRANCE DMD 106
p.Gln957X	c.2869C>T	22	957	CRD-repeat #6		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2295 ---192-8-m1 Male FRANCE DMD 114 2534 ---424-1-91 Male FRANCE DMD 106
p.Gln977ProfsX37	c.2929dup	22	977	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1013	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3262 ---928-0-1 Male FRANCE DMD 1
	c.IVS22+1G>T (c.2949+1G>T)	22	983			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1562 ---276-5-91 Male FRANCE DMD 100 3038 ---762-0-1 Male - DMD 10 3447 ---575-0-1 Male FRANCE DMD 1
p.Ala984_Lys2146del	c.2950_6438del	23	984	CRD-repeat #6		Large rearrangement Deletion from exon 23 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1919 ---063-0-m151 Male - BMD 113
	c.2955_2972delinsTT	23	985	CRD-repeat #6		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2715 ---188-0-m1 Male FRANCE DMD 114
p.Gln990X	c.2968C>T	23	990	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2771 ---262-3-11 Male FRANCE DMD 106
p.Tyr997X	c.2991C>G	23	997	CRD-repeat #6		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2256 ---080-6-m1 Male FRANCE DMD 114 2257 ---080-6-m1 Male 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 Biological significance Geographic origin Mutation type References 3270 ---926-0-1 Male FRANCE BMD 1
p.Ser1012LeufsX32	c.3033delC	23	1011	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1043	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 968 ---572-0-1 Male - DMD 10
p.Glu1021X	c.3061G>T	23	1021	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2361 ---211-3-61 Male FRANCE DMD 100
p.Glu1026X	c.3076G>T	23	1026	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3295 ---756-0-1 Male FRANCE DMD 1
p.Arg1051X	c.3151C>T	23	1051	CRD-repeat #7		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1655 ---316-7-41 Male FRANCE DMD 106 3386 ---128-0-1 Male FRANCE DMD 1 3425 ---166-0-1 Male FRANCE DMD 1
p.Ile1053PhefsX8	c.3157delA	23	1053	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1060	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2386 ---325-7-01 Male BELGIUM DMD 106
p.Lys1086SerfsX3	c.3257delA	24	1086	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1088	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 957 ---049-0-1 Male - DMD 10
p.Lys1089AsnfsX9	c.3267insC	24	1089	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1097	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1446 ---099-6-71 Male FRANCE DMD 102
	c.IVS24+1G>A (c.3276+1G>A)	24	1092			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1294 ---653-0-1 Male - DMD 1
	c.IVS24-1G>T (c.3277-1G>T)	25	1093			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3071 ---787-0-1 Male - BMD 1
p.Ser1104GlnfsX7	c.3309dup	25	1104	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1110	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3449 ---968-0-1 Male FRANCE DMD 1
p.Gln1113X	c.3337C>T	25	1113	CRD-repeat #7		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3070 ---785-0-1 Male FRANCE BMD 1 3072 ---785-0-2 Female 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 Biological significance Geographic origin Mutation type References 2669 ---068-0-01 Male FRANCE DMD 110
p.Glu1133X	c.3397G>T	25	1133	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1584 ---200-1-31 Male FRANCE DMD 106
p.Gln1143X	c.3427C>T	25	1143	CRD-repeat #7		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1422 ---154-9-61 Male FRANCE DMD 100
	c.IVS25+2036A>G (c.3432+2036A>G)	25	1144			Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1596 ---228-2-31 Male FRANCE BMD 104 1853 ---257-0-1 Male - BMD 1 3170 ---257-1-1 Male - BMD 1
p.Val1145_Asp1307del	c.3433_3921del	26	1145	CRD-repeat #7		Large rearrangement Deletion from exon 26 to 28	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 530 ---415-0-1 Male FRANCE BMD 1 531 ---415-1-1 Male FRANCE BMD 1 3560 ---415-2-1 Male FRANCE BMD 1
p.Val1145_Gln1411del	c.3433_4233del	26	1145	CRD-repeat #7		Large rearrangement Deletion from exon 26 to 30	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3179 ---771-0-1 Male SPAIN BMD 1
p.Val1145AlafsX3	c.3433_6290del	26	1145	CRD-repeat #7		Large rearrangement Deletion from exon 26 to 43	Fr.	Stop at 1147	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 209 ---239-1-1 Male - DMD 1 210 ---239-0-1 Male - DMD 1
p.Val1160LysfsX17	c.3478_3479delGT	26	1160	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1176	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1448 ---152-9-31 Male 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 Biological significance Geographic origin Mutation type References 1480 ---291-6-91 Male FRANCE Pending 106
p.Glu1179X	c.3535G>T	26	1179	CRD-repeat #8		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2626 ---442-2-71 Male FRANCE DMD 106 3104 ---113-1-1 Male FRANCE Pending 1 3105 ---113-0-1 Male FRANCE DMD 1 3397 ---113-2-1 Male FRANCE Pending 1 3398 ---113-3-1 Male 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 Biological significance Geographic origin Mutation type References 2846 ---250-0-1 Male FRANCE DMD 1
p.Gln1194X	c.3580C>T	26	1194	CRD-repeat #8		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2273 ---146-A-11 Male FRANCE DMD 114 3201 ---916-0-1 Male FRANCE DMD 1
	c.IVS26+2insT (c.3603+2insT)	26	1201			Small rearrangement	Tv	insT	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2569 ---437-1-71 Male FRANCE BMD 106
	c.IVS26+2T>A (c.3603+2T>A)	26	1201			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1514 ---131-9-71 Male FRANCE DMD 105
	c.IVS26+3A>T (c.3603+3A>T)	26	1201			Small rearrangement	Tv	A->T	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2275 ---148-1-m1 Male FRANCE BMD 114 2897 ---249-0-1 Male FRANCE BMD 1 2898 ---249-1-1 Male FRANCE BMD 1 2899 ---249-2-1 Male FRANCE BMD 1 2900 ---249-3-1 Male FRANCE BMD 1
	c.IVS26+3insT (c.3603+3insT)	26	1201			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1295 ---038-0-1 Male - BMD 10 3474 ---185-0-1 Male FRANCE BMD 1
p.Lys1201_Arg1202ins414AA	c.3604_4846dup	27	1202	CRD-repeat #8		Large rearrangement Duplication from exon 27 to 34	InF	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2687 ---225-2-231 Male FRANCE BMD 115 2688 ---225-4-021 Male FRANCE BMD 115
p.Arg1202AlafsX3	c.3604_6290del	27	1202	CRD-repeat #8		Large rearrangement Deletion from exon 27 to 43	Fr.	Stop at 1204	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2120 ---053-5-81 Male FRANCE DMD 110
p.Arg1202_Lys2146del	c.3604_6438del	27	1202	CRD-repeat #8		Large rearrangement Deletion from exon 27 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2139 ---088-0-m1 Male FRANCE BMD 114
p.Leu1236X	c.3707T>A	27	1236	CRD-repeat #8		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3406 ---113-0-2 Female 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 Biological significance Geographic origin Mutation type References 1615 ---317-7-21 Male FRANCE DMD 106
p.Lys1257AsnfsX26	c.3768delG	27	1256	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1282	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2306 ---231-7-A1 Male FRANCE DMD 114 2307 ---231-8-A1 Male FRANCE DMD 114
p.Cys1258LeufsX21	c.3772ins25	27	1258	CRD-repeat #8		Large rearrangement	Fr.	Stop at 1278	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3384 ---461-0-1 Male FRANCE DMD 1
p.Cys1258AspfsX11	c.3772_3776delTGCAA	27	1258	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1268	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3385 ---461-0-1 Male FRANCE DMD 1
p.Glu1263_Lys2146del	c.3787_6438del	28	1263	CRD-repeat #8		Large rearrangement Deletion from exon 28 to 44	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1912 ---050-7-m011 Male - DMD 113 69 ---120-0-1 Male FRANCE DMD 1
p.Glu1262_Glu1263ins992AA	c.3787_6763dup	28	1263	CRD-repeat #8		Large rearrangement Duplication from exon 28 to 46	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2364 ---013-0-m1 Male FRANCE BMD 114
p.Tyr1274X	c.3822C>A	28	1274	CRD-repeat #9		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3068 ---620-0-1 Male - BMD 1
p.Asn1283LysfsX3	c.3849delT	28	1283	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1285	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3486 ---108-0-1 Male FRANCE DMD 1 3487 ---108-1-1 Male FRANCE DMD 1
p.Lys1288AsnfsX19	c.3864delA	28	1288	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1306	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1449 ---214-2-21 Male FRANCE DMD 100
p.Leu1306AlafsX5	c.3914dup	28	1305	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1310	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 861 ---246-0-1 Male FRANCE DMD 10
p.Ser1308AlafsX3	c.3922_6290del	29	1308	CRD-repeat #9		Large rearrangement Deletion from exon 29 to 43	Fr.	Stop at 1310	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1866 ---077-5-51 Male FRANCE DMD 115
p.Arg2098HisfsX5	c.3922_6291dup	29	1308	CRD-repeat #9		Large rearrangement Duplication from exon 29 to 43	Fr.	Stop at 2102	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 393 ---457-0-1 Male - DMD 1
p.Leu1312X	c.3935T>A	29	1312	CRD-repeat #9		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1590 ---212-2-21 Male FRANCE BMD 106
p.Arg1314X	c.3940C>T	29	1314	CRD-repeat #9		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2656 ---346-4-31 Male FRANCE Pending 106 1629 ---346-8-71 Male FRANCE BMD 106 728 ---357-0-1 Male 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 Biological significance Geographic origin Mutation type References 2370 ---096-2-m1 Male FRANCE DMD 114
	c.IVS29+1G>A (c.4071+1G>A)	29	1357			Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2248 ---054-D-21 Male FRANCE BMD 114 2249 ---054-D-31 Male FRANCE BMD 114 2250 ---054-D-41 Male FRANCE BMD 114
	c.IVS29+2T>A (c.4071+2T>A)	29	1357			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1296 ---146-0-1 Male FRANCE BMD 10
	c.IVS29+2T>C (c.4071+2T>C)	29	1357			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3145 ---020-0-1 Male - BMD 1
p.Ala1358_Lys1615del	c.4072_4845del	30	1358	CRD-repeat #9		Large rearrangement Deletion from exon 30 to 34	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2591 ---161-8-A2 Female FRANCE Symptomatic carrier 114
p.Val1359IlefsX2	c.4072_6290del	30	1358	CRD-repeat #9		Large rearrangement Deletion from exon 30 to 43	Fr.	Stop at 1360	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2166 ---126-3-m1 Male FRANCE DMD 114 3161 ---874-0-2 Female - Symptomatic carrier 1
p.Glu1357_Ala1358ins789AA	c.4072_6439dup	30	1358	CRD-repeat #9		Large rearrangement Duplication from exon 30 to 44		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2575 ---C21-2-7131 Male FRANCE DMD 116
p.Gln1362X	c.4084C>T	30	1362	CRD-repeat #9		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3141 ---520-0-1 Male FRANCE DMD 1
p.Gln1370X	c.4108C>T	30	1370	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1423 ---223-3-71 Male 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 Biological significance Geographic origin Mutation type References 2601 ---139-5-01 Male FRANCE DMD 106
p.Gln1383X	c.4147C>T	30	1383	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2022 ---380-9-41 Male FRANCE DMD 106
p.Lys1412AlafsX3	c.4234_6290del	31	1412	CRD-repeat #10		Large rearrangement Deletion from exon 31 to 43	Fr.	Stop at 1414	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2548 ---778-0-551 Male FRANCE DMD 121 3314 ---767-0-1 Male FRANCE DMD 1 3389 ---957-0-1 Male ALGERIA DMD 1 3479 ---974-0-1 Male FRANCE DMD 1 3480 ---960-0-1 Male FRANCE DMD 1
p.Lys1412AlafsX17	c.4234_6614del	31	1412	CRD-repeat #10		Large rearrangement Deletion from exon 31 to 45	Fr.	Stop at 1428	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3481 ---971-0-1 Male FRANCE DMD 1
p.Leu1417X	c.4250T>A	31	1417	CRD-repeat #10		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1575 ---182-0-61 Male FRANCE BMD 124
p.Gln1432X	c.4294C>T	31	1432	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3121 ---849-0-1 Male - BMD 1
p.Ile1444MetfsX12	c.4332_4335delTGAT	31	1444	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1455	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3069 ---770-0-1 Male - DMD 1
p.Lys1449AlafsX3	c.4345_6290del	32	1449	CRD-repeat #10		Large rearrangement Deletion from exon 32 to 43	Fr.	Stop at 1451	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1856 ---067-1-31 Male FRANCE DMD 115
	c.IVS32+1G>A (c.4518+1G>A)	32	1506			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1576 ---183-0-71 Male FRANCE DMD 100
	c.IVS32-3del7 (c.4519-3del7)	33	1507			Small rearrangement	Tv	del7	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1089 ---135-0-1 Male - BMD 10 1090 ---135-1-1 Male - BMD 1
	c.IVS32-5C>G (c.4519-5C>G)	33	1507			Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2293 ---189-2-m1 Male FRANCE BMD 114 2294 ---189-0-81 Male FRANCE BMD 114 1609 ---282-5-21 Male FRANCE BMD 124
p.Tyr1509X	c.4527T>A	33	1509	CRD-repeat #11		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3120 ---804-0-1 Male 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 Biological significance Geographic origin Mutation type References 3107 ---063-0-1 Male - DMD 1 3508 ---240-0-2 Female 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 Biological significance Geographic origin Mutation type References 2303 ---223-6-m1 Male FRANCE DMD 114
p.Val1559X	c.4675delG	34	1559	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1559	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3467 ---915-0-1 Male FRANCE DMD 1
p.Val1559_Lys1615del	c.4675_4845del	34	1559	CRD-repeat #11		Large rearrangement Deletion from exon 34 to 34	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2194 ---169-D-41 Male FRANCE BMD 114
p.Lys1571X	c.4711A>T	34	1571	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2277 ---150-A-11 Male FRANCE DMD 114 2278 ---150-A-21 Male FRANCE DMD 114
p.Lys1575X	c.4723A>T	34	1575	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3401 ---963-0-1 Male FRANCE DMD 1
p.Arg1577X	c.4729C>T	34	1577	CRD-repeat #12		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2647 ---429-1-81 Male FRANCE DMD 106 2291 ---185-6-MA1 Male FRANCE DMD 114
p.Glu1593X	c.4777G>T	34	1593	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1424 ---116-7-91 Male FRANCE DMD 100
	c.4780_4780delinsGAGATCATATCTGTCATA...	34	1594	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2704 ---143-8-41 Male FRANCE DMD 106
p.Glu1601X	c.4800_4801delinsGT	34	1600	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2714 ---151-2-m1 Male FRANCE DMD 114
p.Gly1614GlufsX15	c.4841delG	34	1614	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1450 ---221-4-81 Male FRANCE DMD 100
	c.IVS34+2T>C (c.4845+2T>C)	34	1615			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3566 ---914-0-1 Male FRANCE BMD 1
p.Ala1616_Lys2039del	c.4846_6117del	35	1616	CRD-repeat #12		Large rearrangement Deletion from exon 35 to 42	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1516 ---145-9-81 Male FRANCE DMD 100
p.Ala1616_Lys2146del	c.4846_6438del	35	1616	CRD-repeat #12		Large rearrangement Deletion from exon 35 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1878 ---099-9-91 Male FRANCE BMD 115
p.Lys1615_Ala1616ins1124AA	c.4846_8218dup	35	1616	CRD-repeat #12		Large rearrangement Duplication from exon 35 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1667 ---386-9-21 Male FRANCE BMD 106
	c.IVS34-1469A>G (c.4846-1469A>G)	35	1616			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2908 ---999-0-1 Male CANADA DMD 1
p.Gln1618X	c.4852C>T	35	1618	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2261 ---092-8-m1 Male FRANCE DMD 114
p.Glu1620ArgfsX9	c.4857delA	35	1619	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1451 ---220-3-91 Male FRANCE DMD 105
p.Gln1624X	c.4870C>T	35	1624	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2276 ---149-B-21 Male 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 Biological significance Geographic origin Mutation type References 1452 ---215-2-01 Male FRANCE DMD 100
p.Thr1640GlnfsX17	c.4918delA	35	1640	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1656	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1453 ---122-8-71 Male FRANCE Pending 100
p.Leu1642PhefsX11	c.4925dup	35	1642	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1652	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 682 ---368-0-1 Male FRANCE BMD 1
p.Lys1652X	c.4954A>T	35	1652	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3293 ---943-0-1 Male INDIA DMD 1
p.Trp1660X	c.4980delG	35	1660	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1660	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 678 ---376-0-1 Male - DMD 10
p.Arg1666X	c.4996C>T	35	1666	CRD-repeat #12		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1425 ---275-5-81 Male FRANCE DMD 100 1426 ---057-3-61 Male FRANCE DMD 100 2252 ---074-0-71 Male FRANCE DMD 114 3153 ---060-2-1 Male FRANCE DMD 1 3393 ---060-0-1 Male FRANCE DMD 1 2403 ---060-1-1 Male FRANCE DMD 1
p.Glu1676_Lys2254del	c.5026_6762del	36	1676	CRD-repeat #12		Large rearrangement Deletion from exon 36 to 46	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1838 ---048-5-11 Male FRANCE DMD 115
p.Trp1694X	c.5082G>A	36	1694	CRD-repeat #13		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3443 ---015-0-1 Male FRANCE DMD 1
p.Glu1714LysfsX7	c.5139delA	36	1713	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1454 ---258-4-41 Male FRANCE DMD 100
p.Glu1714LysfsX7	c.5140delG	36	1714	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2246 ---116-7-A1 Male FRANCE DMD 114
	c.IVS36+1G>A (c.5154+1G>A)	36	1718			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 637 ---384-0-1 Male - BMD 10
p.Ile1757SerfsX24	c.5269delA	37	1757	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1780	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3119 ---125-0-1 Male - DMD 1 3158 ---125-1-1 Male - DMD 1 3159 ---125-2-1 Male - DMD 1
p.Ser1758ArgfsX14	c.5272_5273delTC	37	1758	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1771	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3022 ---147-0-1 Male - DMD 10
p.Arg1763X	c.5287C>T	37	1763	CRD-repeat #13		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1710 ---C16-8-6261 Male FRANCE Pending 116 963 ---479-0-1 Male - BMD 1 1771 ---036-0-1 Male - BMD 1 3396 ---324-0-1 Male 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 Biological significance Geographic origin Mutation type References 2387 ---326-7-41 Male BELGIUM DMD 106
p.Lys1772X	c.5314A>T	37	1772	CRD-repeat #13		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1427 ---158-9-31 Male FRANCE Pending 100
p.Ser1777IlefsX2	c.5326_6290del	38	1776	CRD-repeat #13		Large rearrangement Deletion from exon 38 to 43	Fr.	Stop at 1778	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2363 ---007-4-m1 Male FRANCE DMD 114
p.Ala1776_Lys2146del	c.5326_6438del	38	1776	CRD-repeat #13		Large rearrangement Deletion from exon 38 to 44	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2716 ---204-D-11 Male FRANCE BMD 114
p.Gln1803X	c.5407C>T	38	1803	CRD-repeat #14		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2450 ---392-0-21 Male FRANCE BMD 106 2840 ---841-0-1 Male FRANCE BMD 1
p.Val1805X	c.5413delG	38	1805	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1805	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2247 ---052-A-61 Male 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 Biological significance Geographic origin Mutation type References 1618 ---313-7-91 Male FRANCE DMD 106
p.Asn1817AlafsX3	c.5449_6290del	39	1817	CRD-repeat #14		Large rearrangement Deletion from exon 39 to 43	Fr.	Stop at 1819	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2561 ---681-0-361 Male FRANCE DMD 121 2638 ---081-5-11 Male FRANCE BMD 106
p.Leu1827X	c.5480T>A	39	1827	CRD-repeat #14		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2762 ---461-3-91 Male 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 Biological significance Geographic origin Mutation type References 3160 ---076-0-1 Male FRANCE DMD 1
p.Arg1844X	c.5530A>T	39	1844	CRD-repeat #14		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1669 ---384-9-81 Male FRANCE Pending 106 3252 ---787-0-1 Male SWITZERLAND DMD 1
p.Gln1851X	c.5551C>T	39	1851	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3404 ---312-0-1 Male FRANCE DMD 1
p.Gln1851SerfsX14	c.5551delC	39	1851	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1864	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1455 ---134-8-21 Male 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 Biological significance Geographic origin Mutation type References 3077 ---578-0-1 Male - IMD 1 3078 ---578-0-2 Female - Pending 1
p.Thr1856AsnfsX8	c.5565_5568delGACA	39	1855	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1863	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1456 ---234-3-41 Male FRANCE DMD 100
p.Asp1863AlafsX3	c.5587_6290del	40	1863	CRD-repeat #14		Large rearrangement Deletion from exon 40 to 43	Fr.	Stop at 1865	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2129 ---068-7-m1 Male FRANCE DMD 114 211 ---036-0-1 Male - DMD 1
p.Asp1863_Lys2146del	c.5587_6438del	40	1863	CRD-repeat #14		Large rearrangement Deletion from exon 40 to 44	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2550 ---188-0-231 Male FRANCE Pending 121 2551 ---188-0-641 Male FRANCE Pending 121
p.Arg1868GlufsX5	c.5602_5605delAGAA	40	1868	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1872	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3136 ---015-0-1 Male - DMD 1 3152 ---048-0-1 Male FRANCE DMD 1 3212 ---554-0-1 Male - DMD 10
p.Lys1870X	c.5608A>T	40	1870	CRD-repeat #14		Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2695 ---479-5-91 Male FRANCE DMD 106 3148 ---851-0-2 Female - Symptomatic carrier 1 3451 ---823-0-1 Male GERMANY DMD 1
p.Trp1879X	c.5637G>A	40	1879	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 681 ---547-0-1 Male 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 Biological significance Geographic origin Mutation type References 2579 ---383-9-71 Male FRANCE DMD 106
p.Lys1899AsnfsX2	c.5697delA	40	1899	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1900	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2289 ---181-3-m1 Male FRANCE DMD 114
p.Glu1914_Ile1974del	c.5740_5922del	41	1914	CRD-repeat #15		Large rearrangement Deletion from exon 41 to 41	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2719 ---059-8-61 Male FRANCE BMD 112
p.Glu1914AlafsX3	c.5740_6290del	41	1914	CRD-repeat #15		Large rearrangement Deletion from exon 41 to 43	Fr.	Stop at 1916	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2393 ---300-0-2 Female FRANCE Symptomatic carrier 1
	c.IVS40-2A>G (c.5740-2A>G)	41	1914			Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 972 ---603-0-1 Male - BMD 10 3063 ---977-1-1 Male FRANCE BMD 1 3554 ---977-0-1 Male FRANCE BMD 1
	c.IVS40-2A>T (c.5740-2A>T)	41	1914			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 958 ---641-0-1 Male - BMD 10
p.Lys1923GlyfsX7	c.5766_5770delGAAAG	41	1922	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 647 ---074-0-1 Male - DMD 10
p.Lys1923ArgfsX3	c.5768_5771delAAGA	41	1923	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1925	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2918 ---937-0-1 Male SPAIN DMD 1
p.Arg1967X	c.5899C>T	41	1967	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1666 ---308-6-71 Male FRANCE DMD 106
	c.IVS41+2T>C (c.5922+2T>C)	41	1974			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2995 ---733-0-1 Male - BMD 10
p.His1975AlafsX3	c.5923_6290del	42	1975	CRD		Large rearrangement Deletion from exon 42 to 43	Fr.	Stop at 1977	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 70 ---454-0-1 Male - DMD 1 212 ---191-0-1 Male - IMD 1 1654 ---375-9-31 Male FRANCE Pending 106
p.Thr1986ArgfsX17	c.5957_5958delCT	42	1986	CRD		Small rearrangement	Fr.	Stop at 2002	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2242 ---039-7-m1 Male FRANCE DMD 114
p.Pro1990LeufsX12	c.5969delC	42	1990	CRD		Small rearrangement	Fr.	Stop at 2001	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3060 ---812-0-1 Male FRANCE DMD 1 3558 ---812-1-1 Male FRANCE DMD 1
p.Asn2040AlafsX3	c.6118_6290del	43	2040	CRD-repeat #16		Large rearrangement Deletion from exon 43 to 43	Fr.	Stop at 2042	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2191 ---166-D-21 Male FRANCE DMD 114 71 ---182-0-1 Male - DMD 1 213 ---058-0-1 Male - DMD 1 752 ---562-0-1 Male - DMD 1 3053 ---783-0-1 Male - DMD 1 3334 ---818-0-1 Male FRANCE DCM 1
p.Arg2098IlefsX2	c.6118_6291dup	43	2040	CRD-repeat #16		Large rearrangement Duplication from exon 43 to 43	Fr.	Stop at 2099	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 423 ---301-0-1 Male - BMD 1 3296 ---111-0-1 Male FRANCE DMD 1
p.Asn2040AlafsX17	c.6118_6614del	43	2040	CRD-repeat #16		Large rearrangement Deletion from exon 43 to 45	Fr.	Stop at 2056	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1272 ---534-0-1 Male - DMD 1
p.Lys2039_Asn2040ins265AA	c.6118_6913dup	43	2040	CRD-repeat #16		Large rearrangement Duplication from exon 43 to 47	Fr.	In frame ins	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2042 ---034-0-51 Male FRANCE BMD 122 2043 ---034-0-61 Male FRANCE BMD 122 1011 ---107-1-1 Male - BMD 1 444 ---107-0-1 Male - BMD 1 1012 ---107-2-1 Male - BMD 1
p.Asn2040LeufsX9	c.6118_7309del	43	2040	CRD-repeat #16		Large rearrangement Deletion from exon 43 to 50	Fr.	Stop at 2048	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1486 ---027-1-71 Male FRANCE DMD 110
p.Gln2080X	c.6238C>T	43	2080	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 683 ---448-0-1 Male FRANCE DMD 10
p.Trp2085X	c.6255G>A	43	2085	CRD-repeat #16		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2244 ---043-B-71 Male FRANCE DMD 114 3342 ---948-0-1 Male FRANCE DMD 1
p.Tyr2092X	c.6276C>G	43	2092	CRD-repeat #16		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1428 ---196-1-71 Male FRANCE DMD 100
p.Arg2095X	c.6283C>T	43	2095	CRD-repeat #16		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1429 ---269-6-51 Male FRANCE Pending 100 670 ---287-0-1 Male - DMD 10
p.Arg2098AsnfsX16	c.6291_6438del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 44	Fr.	Stop at 2113	50
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2028 ---001-0-11 Male FRANCE DMD 122 2070 ---085-0-81 Male FRANCE DMD 122 2112 ---063-E-11 Male FRANCE DMD 114 2113 ---063-E-31 Male FRANCE DMD 114 1539 ---021-8-31 Male FRANCE DMD 112 1573 ---178-0-61 Male FRANCE DMD 106 1603 ---252-4-91 Male FRANCE DMD 106 2217 ---207-0-41 Male FRANCE DMD 114 2230 ---227-0-31 Male FRANCE DMD 114 2231 ---227-X-41 Male FRANCE DMD 114 1841 ---051-1-11 Male FRANCE DMD 115 2489 ---032-3-91 Male FRANCE DMD 127 2497 ---209-0-M91 Male FRANCE DMD 121 2510 ---601-G-651 Male FRANCE DMD 121 6 ---347-0-2 Female - Symptomatic carrier 1 14 ---103-0-1 Male - DMD 1 35 ---406-0-1 Male - DMD 1 37 ---178-0-1 Male - DMD 1 73 ---054-0-1 Male - DMD 1 74 ---074-1-1 Male - DMD 1 75 ---074-0-1 Male - DMD 1 151 ---132-0-1 Male FRANCE DMD 119 214 ---037-0-1 Male FRANCE DMD 1 215 ---076-0-1 Male - DMD 1 216 ---085-0-1 Male - DMD 1 217 ---178-0-1 Male - DMD 1 218 ---187-0-1 Male - DMD 1 219 ---263-0-1 Male - DMD 1 220 ---296-0-1 Male - DMD 1 221 ---322-0-1 Male - DMD 1 222 ---401-0-1 Male FRANCE DMD 1 223 ---404-0-1 Male - DMD 1 224 ---420-0-1 Male - DMD 1 225 ---441-0-1 Male - DMD 1 226 ---446-0-1 Male - DMD 1 227 ---509-0-1 Male FRANCE DMD 1 1692 ---186-8-2351 Male FRANCE DMD 116 1728 ---225-9-4181 Male FRANCE DMD 119 1764 ---148-0-2431 Male FRANCE DMD 119 982 ---681-0-1 Male - DMD 1 1010 ---103-1-1 Male - DMD 1 1251 ---013-0-1 Male - DMD 1 1270 ---537-0-1 Male - DMD 1 2824 ---752-0-1 Male - DMD 1 2825 ---752-1-1 Male - DMD 1 2980 ---752-0-1 Male - DMD 1 2981 ---752-1-1 Male - DMD 1 3003 ---756-0-1 Male - DMD 1 3076 ---112-0-1 Male FRANCE DMD 1 3311 ---924-0-2 Female FRANCE Symptomatic carrier 1
p.Glu2147AlafsX3	c.6291_6439dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 44	Fr.	Stop at 2149	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1559 ---127-1-21 Male FRANCE DMD 100 2663 ---127-3-42 Female FRANCE Symptomatic carrier 106 3315 ---939-0-1 Male FRANCE DMD 1 3416 ---787-0-1 Male FRANCE DMD 1 3455 ---734-0-1 Male FRANCE DMD 1
p.Arg2098PhefsX16	c.6291_6912del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 47	Fr.	Stop at 2113	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 76 ---146-0-1 Male - DMD 1 1807 ---013-1-21 Male FRANCE DMD 115
p.Arg2401AlafsX3	c.6291_7201dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 49	Fr.	Stop at 2403	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1360 ---742-0-1 Male FRANCE DMD 1
p.Arg2098GlnfsX23	c.6291_7542del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 51	Fr.	Stop at 2120	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1620 ---059-3-01 Male FRANCE DMD 106
p.Arg2098X	c.6291_7660del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 52	Fr.	Stop at 2098	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2011 ---205-3-81061 Male FRANCE DMD 117 78 ---151-0-1 Male - DMD 1 1170 ---730-0-1 Male - DMD 1
p.Ile2554SerfsX17	c.6291_7661dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 52		Stop at 2570	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3469 ---131-0-1 Male FRANCE DMD 1
p.Arg2098SerfsX13	c.6291_7872del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 53	Fr.	Stop at 2110	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1845 ---055-1-61 Male FRANCE DMD 115
p.Gln2625AlafsX3	c.6291_7873dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 53	Fr.	Stop at 2627	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 140 ---084-0-1 Male - DMD 1
p.Arg2098ThrfsX24	c.6291_8217del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 55	Fr.	Stop at 2121	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3241 ---914-0-1 Male FRANCE DMD 1 3242 ---914-1-1 Male FRANCE DMD 1
p.Asp2740AlafsX3	c.6291_8218dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 55	Fr.	Stop at 2742	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2726 ---067-1-91 Male FRANCE DMD 112
p.Leu2981IlefsX2	c.6291_8938dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 59	Fr.	Stop at 2982	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1634 ---015-8-81 Male FRANCE BMD 106
p.Arg2098TrpfsX60	c.6291_9084del	43-44	2097	CRD-repeat #16		Large rearrangement Deletion from exon 44 to 60	Fr.	Stop at 2157	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2479 ---017-0-91 Male FRANCE DMD 127
	c.IVS43+1G>T (c.6290+1G>T)	43-44	2097			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2308 ---233-6-m1 Male 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 Biological significance Geographic origin Mutation type References 3035 ---172-0-1 Male FRANCE DMD 1
	c.IVS43+5del1 (c.6290+5del1)	43-44	2097			Small rearrangement	Tv	del1	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2834 ---543-0-1 Male - BMD 10 2990 ---543-0-1 Male - BMD 10
p.Arg2098X	c.6292C>T	44	2098	CRD-repeat #16		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2712 ---486-4-01 Male FRANCE DMD 106 1724 ---385-0-1 Male - DMD 10 3338 ---913-0-1 Male BRAZIL DMD 1 3540 ---786-0-1 Male FRANCE DMD 1
p.Glu2122X	c.6364G>T	44	2122	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 794 ---430-0-1 Male FRANCE DMD 10
p.Glu2147_Met3685del	c.6439_11055del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 79	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2555 ---153-2-0191 Male FRANCE DMD 121 1622 ---341-8-21 Male FRANCE DMD 106
p.Glu2147AlafsX17	c.6439_6614del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 45	Fr.	Stop at 2163	70
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2082 ---012-0-m1 Male FRANCE DMD 114 2325 ---058-5-91 Male FRANCE DMD 110 1536 ---017-2-31 Male FRANCE DMD 112 1540 ---022-0-21 Male FRANCE DMD 112 1567 ---169-0-81 Male FRANCE DMD 106 1944 ---035-4-21 Male FRANCE DMD 106 1947 ---063-3-91 Male FRANCE DMD 106 1975 ---106-6-01 Male FRANCE DMD 106 2138 ---087-E-11 Male FRANCE DMD 114 2155 ---114-E-21 Male FRANCE Pending 114 2165 ---123-0-m1 Male FRANCE DMD 114 2198 ---175-0-11 Male FRANCE DMD 114 2212 ---199-F-11 Male FRANCE DMD 114 1826 ---035-1-71 Male FRANCE DMD 115 1833 ---043-7-81 Male FRANCE DMD 115 1834 ---044-7-41 Male FRANCE Pending 115 2313 ---022-0-31 Male FRANCE DMD 112 2315 ---037-5-91 Male FRANCE DMD 112 2356 ---354-8-11 Male FRANCE DMD 106 2399 ---006-0-61 Male FRANCE Pending 126 2541 ---354-3-81 Male FRANCE Pending 106 2409 ---014-1-51 Male FRANCE Pending 126 2410 ---014-1-61 Male FRANCE Pending 126 2442 ---048-5-71 Male FRANCE Pending 126 2444 ---050-6-61 Male FRANCE Pending 126 2525 ---061-6-81 Male FRANCE Pending 126 2522 ---164-5-CY451 Male FRANCE DMD 121 2553 ---567-0-101 Male FRANCE DMD 121 2624 ---488-4-31 Male FRANCE DMD 106 2735 ---082-6-31 Male FRANCE DMD 112 2738 ---087-7-51 Male FRANCE DMD 112 2740 ---089-4-21 Male FRANCE DMD 112 18 ---536-0-1 Male FRANCE DMD 1 20 ---331-0-1 Male - DMD 1 28 ---074-0-1 Male - DMD 1 79 ---226-0-1 Male FRANCE DMD 1 80 ---368-0-1 Male - DMD 1 82 ---410-0-1 Male - DMD 1 152 ---173-0-1 Male - DMD 1 153 ---173-1-1 Male - DMD 1 229 ---028-0-1 Male - DMD 1 230 ---038-0-1 Male - DMD 1 231 ---047-0-1 Male - DMD 1 233 ---072-0-1 Male - DMD 1 234 ---072-1-1 Male - DMD 1 235 ---171-0-1 Male - DMD 1 237 ---432-0-1 Male - DMD 1 238 ---439-0-1 Male - DMD 1 239 ---467-0-1 Male - DMD 1 1613 ---022-8-41 Male FRANCE IMD 106 1653 ---007-0-51 Male FRANCE DMD 106 1674 ---037-5-81 Male FRANCE DMD 112 1729 ---224-3-4131 Male FRANCE DMD 119 1796 ---204-8-3181 Male FRANCE DMD 119 1798 ---001-0-31 Male FRANCE DMD 115 1801 ---004-0-31 Male FRANCE IMD 115 1802 ---006-0-11 Male FRANCE DMD 115 885 ---661-0-1 Male - DMD 1 899 ---664-0-1 Male - DMD 1 1373 ---707-0-1 Male IRAN DMD 1 1387 ---651-0-1 Male - DMD 1 2798 ---747-0-1 Male - DMD 1 2821 ---750-0-1 Male - DMD 1 2954 ---747-0-1 Male - DMD 1 2977 ---750-0-1 Male - DMD 1 3057 ---145-0-1 Male - DMD 1 3224 ---672-0-1 Male FRANCE DMD 1 3243 ---801-0-2 Female ARGENTINA Symptomatic carrier 1 3390 ---949-0-1 Male EGYPT DMD 1 3432 ---529-0-1 Male FRANCE DMD 1
p.Leu2206AsnfsX16	c.6439_6615dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 45		Stop at 2221	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2573 ---232-7-4851 Male FRANCE DMD 116 2574 ---232-7-5261 Male FRANCE DMD 116
p.Glu2147_Lys2254del	c.6439_6762del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 46	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2227 ---224-3-m1 Male FRANCE Pending 114 148 ---065-0-1 Male FRANCE DMD 1
p.Glu2147_Lys2304del	c.6439_6912del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 47	InF	In frame del	210
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1985 ---939-0-321 Male FRANCE BMD 121 1999 ---157-6-05781 Male FRANCE BMD 117 2007 ---801-1-3701 Male FRANCE BMD 117 2009 ---204-6-63831 Male FRANCE BMD 117 2309 ---001-0-21 Male FRANCE BMD 112 2075 ---004-1-m1 Male FRANCE Pending 114 2084 ---015-7-m1 Male FRANCE BMD 114 1468 ---004-3-21 Male FRANCE BMD 110 1495 ---038-2-21 Male FRANCE BMD 110 1502 ---045-1-91 Male FRANCE BMD 110 1520 ---001-0-01 Male FRANCE BMD 112 2324 ---008-8-91 Male FRANCE BMD 112 1526 ---007-4-91 Male FRANCE BMD 112 1527 ---008-8-81 Male FRANCE BMD 112 1535 ---016-6-21 Male FRANCE BMD 112 1597 ---232-3-31 Male FRANCE BMD 106 1858 ---069-1-31 Male FRANCE Pending 115 1875 ---096-0-01 Male FRANCE BMD 115 1876 ---097-1-41 Male FRANCE BMD 115 1887 ---110-4-31 Male FRANCE BMD 115 1891 ---115-1-51 Male FRANCE BMD 115 1892 ---116-6-11 Male FRANCE BMD 115 1893 ---116-6-51 Male FRANCE BMD 115 1894 ---119-0-21 Male FRANCE BMD 115 1898 ---123-9-71 Male FRANCE BMD 115 1900 ---125-9-91 Male FRANCE BMD 115 1905 ---020-0-51 Male - BMD 113 1910 ---047-6-m161 Male - BMD 113 1945 ---107-0-31 Male FRANCE BMD 106 1946 ---107-7-01 Male FRANCE BMD 106 1968 ---050-3-71 Male FRANCE BMD 106 2122 ---055-2-61 Male FRANCE BMD 110 2132 ---071-2-c1 Male FRANCE BMD 114 2136 ---083-8-m1 Male FRANCE BMD 114 2167 ---127-0-71 Male FRANCE BMD 114 2174 ---132-C-21 Male FRANCE BMD 114 2175 ---132-C-31 Male FRANCE BMD 114 2185 ---157-B-11 Male FRANCE BMD 114 2197 ---173-E-21 Male FRANCE BMD 114 2340 ---251-D-681 Male FRANCE BMD 121 2341 ---251-E-901 Male FRANCE BMD 121 2542 ---431-1-21 Male FRANCE BMD 106 2412 ---016-1-31 Male FRANCE Pending 126 2413 ---017-1-01 Male FRANCE Pending 126 2414 ---018-2-81 Male FRANCE Pending 126 2431 ---035-5-11 Male FRANCE Pending 126 2467 ---016-5-81 Male FRANCE BMD 127 2493 ---076-7-01 Male FRANCE BMD 127 2502 ---188-0-F41 Male FRANCE BMD 121 2503 ---188-D-981 Male FRANCE BMD 121 2563 ---653-0-911 Male FRANCE BMD 121 2565 ---899-0-671 Male FRANCE BMD 121 2617 ---202-4-91 Male FRANCE BMD 115 2665 ---066-6-11 Male FRANCE BMD 110 2667 ---070-6-31 Male FRANCE BMD 110 2668 ---069-6-81 Male FRANCE Pending 110 2730 ---075-1-81 Male FRANCE BMD 112 2748 ---103-9-71 Male FRANCE BMD 112 2753 ---103-0-51 Male FRANCE BMD 112 2778 ---219-6-371 Male FRANCE BMD 115 2782 ---342-3-17171 Male FRANCE BMD 117 240 ---503-0-1 Male - BMD 1 1616 ---314-7-61 Male FRANCE BMD 106 1617 ---314-7-41 Male FRANCE BMD 106 1680 ---045-7-71 Male FRANCE BMD 112 1686 ---C57-0-441 Male FRANCE BMD 116 407 ---067-1-1 Male FRANCE BMD 1 413 ---028-0-1 Male FRANCE BMD 1 414 ---421-0-1 Male - BMD 1 419 ---483-0-1 Male FRANCE BMD 1 451 ---042-0-1 Male FRANCE BMD 1 452 ---103-1-1 Male FRANCE BMD 1 453 ---103-0-1 Male FRANCE BMD 1 454 ---136-0-1 Male FRANCE BMD 1 455 ---140-1-1 Male FRANCE BMD 1 456 ---140-0-1 Male FRANCE BMD 1 457 ---172-0-1 Male FRANCE BMD 1 458 ---172-1-1 Male FRANCE BMD 1 460 ---334-0-1 Male FRANCE BMD 1 461 ---505-0-1 Male FRANCE BMD 1 490 ---165-0-1 Male FRANCE BMD 1 491 ---135-0-1 Male FRANCE BMD 1 496 ---172-0-1 Male FRANCE BMD 1 499 ---241-0-1 Male FRANCE BMD 1 500 ---374-0-1 Male FRANCE BMD 1 501 ---450-0-1 Male FRANCE BMD 1 503 ---134-0-1 Male FRANCE BMD 1 504 ---143-0-1 Male FRANCE BMD 1 532 ---012-0-1 Male FRANCE BMD 1 533 ---022-0-1 Male - BMD 1 534 ---033-0-1 Male FRANCE BMD 1 535 ---033-2-1 Male - BMD 1 536 ---033-1-1 Male - BMD 1 537 ---033-3-1 Male - BMD 1 538 ---042-0-1 Male FRANCE BMD 1 539 ---046-0-1 Male - BMD 1 540 ---071-0-1 Male - BMD 1 541 ---095-0-1 Male - BMD 1 542 ---101-5-1 Male FRANCE BMD 1 543 ---110-0-1 Male - BMD 1 544 ---115-0-1 Male - BMD 1 545 ---123-0-1 Male FRANCE BMD 1 546 ---138-0-1 Male - BMD 1 547 ---138-1-1 Male - BMD 1 548 ---144-0-1 Male - BMD 1 549 ---147-1-1 Male FRANCE BMD 1 551 ---167-0-1 Male FRANCE BMD 1 552 ---177-0-1 Male FRANCE BMD 1 553 ---226-2-1 Male - BMD 1 554 ---226-1-1 Male - BMD 1 555 ---226-0-1 Male - BMD 1 556 ---228-0-1 Male FRANCE BMD 1 557 ---277-1-1 Male FRANCE BMD 1 558 ---280-0-1 Male - BMD 1 559 ---281-0-1 Male - BMD 1 560 ---287-0-1 Male - BMD 1 561 ---320-2-1 Male - BMD 1 562 ---320-0-1 Male - BMD 1 564 ---354-0-1 Male - BMD 1 565 ---369-0-1 Male - BMD 1 566 ---374-0-1 Male - BMD 1 567 ---379-0-1 Male - BMD 1 569 ---380-0-1 Male - BMD 1 570 ---392-0-1 Male - BMD 1 572 ---418-0-1 Male - BMD 1 574 ---434-0-1 Male - BMD 1 575 ---481-0-1 Male FRANCE BMD 1 576 ---483-0-1 Male - BMD 1 577 ---490-0-1 Male Indian BMD 1 578 ---490-1-1 Male - BMD 1 579 ---490-2-1 Male - BMD 1 1004 ---101-1-1 Male FRANCE BMD 1 1003 ---101-2-1 Male FRANCE BMD 1 729 ---548-1-1 Male FRANCE BMD 1 730 ---548-0-1 Male FRANCE BMD 1 741 ---625-0-1 Male - BMD 1 796 ---033-0-1 Male - BMD 1 809 ---172-2-1 Male FRANCE BMD 1 810 ---172-3-1 Male FRANCE BMD 1 811 ---172-0-2 Female FRANCE Symptomatic carrier 1 814 ---320-1-1 Male - BMD 1 2789 ---012-1-1 Male FRANCE BMD 1 1002 ---697-0-1 Male - BMD 1 1005 ---101-0-1 Male FRANCE IMD 1 1006 ---101-3-1 Male FRANCE BMD 1 1007 ---101-4-1 Male FRANCE IMD 1 1049 ---022-1-1 Male - BMD 1 1101 ---720-0-1 Male - BMD 1 1104 ---033-1-1 Male FRANCE BMD 1 1105 ---033-2-1 Male FRANCE BMD 1 1158 ---067-0-1 Male FRANCE BMD 1 1267 ---574-0-1 Male - BMD 1 1269 ---548-0-1 Male FRANCE BMD 1 1290 ---726-0-1 Male - BMD 1 1293 ---101-6-1 Male FRANCE Asymptomatic 1 1382 ---630-0-1 Male - BMD 1 1383 ---635-0-1 Male FRANCE BMD 1 2799 ---172-4-1 Male FRANCE BMD 1 2800 ---380-1-1 Male - BMD 1 2801 ---380-2-1 Male - BMD 1 2816 ---737-0-1 Male FRANCE BMD 1 2826 ---755-0-1 Male FRANCE BMD 1 2828 ---147-0-1 Male FRANCE BMD 1 2830 ---277-3-1 Male FRANCE BMD 1 2831 ---277-0-1 Male FRANCE BMD 1 2832 ---277-B-S011 Male FRANCE BMD 1 2945 ---012-1-1 Male FRANCE BMD 1 2955 ---172-4-1 Male FRANCE BMD 1 2956 ---380-1-1 Male - BMD 1 2957 ---380-2-1 Male - BMD 1 2972 ---737-0-1 Male FRANCE BMD 1 2982 ---755-0-1 Male FRANCE BMD 1 2984 ---147-0-1 Male FRANCE BMD 1 2986 ---277-3-1 Male FRANCE BMD 1 2987 ---277-0-1 Male FRANCE BMD 1 2988 ---277-B-S011 Male FRANCE BMD 1 2992 ---014-0-1 Male - BMD 1 2996 ---014-1-1 Male - BMD 1 2997 ---014-2-1 Male - BMD 1 3083 ---810-0-1 Male FRANCE BMD 1 3123 ---277-4-1 Male FRANCE BMD 1 3172 ---503-1-1 Male - BMD 1 3190 ---868-0-1 Male - BMD 1 3198 ---912-0-1 Male - Pending 1 3215 ---013-0-1 Male FRANCE BMD 1 3216 ---013-1-1 Male FRANCE BMD 1 3222 ---123-0-1 Male FRANCE BMD 1 3240 ---931-0-1 Male FRANCE BMD 1 3260 ---147-2-1 Male FRANCE BMD 1 3261 ---147-3-1 Male FRANCE BMD 1 3267 ---101-7-1 Male FRANCE BMD 1 3279 ---028-1-1 Male FRANCE BMD 1 3283 ---936-0-1 Male JORDAN BMD 1 3285 ---935-0-1 Male FRANCE BMD 1 3320 ---116-0-1 Male FRANCE BMD 1 3361 ---810-1-1 Male FRANCE BMD 1 3391 ---930-0-1 Male FRANCE DCM 1 3392 ---907-0-1 Male FRANCE BMD 1 3422 ---028-1-1 Male FRANCE BMD 1 3429 ---028-3-1 Male FRANCE BMD 1 3439 ---966-0-1 Male FRANCE BMD 1 3490 ---009-0-1 Male FRANCE BMD 1 3496 ---381-0-1 Male FRANCE BMD 1 3500 ---172-0-2 Female FRANCE Symptomatic carrier 1 3519 ---854-0-1 Male FRANCE BMD 1 3569 ---078-0-1 Male FRANCE BMD 1 3570 ---078-1-1 Male FRANCE BMD 1 3571 ---078-0-2 Male FRANCE Asymptomatic 1 2939 ---277-2-1 Male FRANCE BMD 1 2940 ---277-5-1 Male FRANCE BMD 1
p.Lys2146_Glu2147ins158AA	c.6439_6913dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 47		In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2600 ---135-8-12 Female FRANCE Symptomatic carrier 106 2610 ---330-7-11 Male FRANCE DMD 106
p.Glu2147_Gln2366del	c.6439_7098del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 48	InF	In frame del	151
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1984 ---111-9-0941 Male FRANCE BMD 121 1993 ---344-0-381 Male FRANCE BMD 121 2034 ---016-0-71 Male FRANCE BMD 122 2035 ---016-0-81 Male FRANCE BMD 122 2052 ---052-0-61 Male FRANCE BMD 122 2078 ---008-8-m1 Male FRANCE BMD 114 2087 ---018-D-41 Male FRANCE Pending 114 2088 ---018-D-51 Male FRANCE Pending 114 2107 ---055-6-m1 Male FRANCE BMD 114 1500 ---043-2-81 Male FRANCE Pending 110 1521 ---002-3-11 Male FRANCE BMD 112 1523 ---004-1-41 Male FRANCE BMD 112 1525 ---006-4-51 Male FRANCE BMD 112 1528 ---009-8-81 Male FRANCE BMD 112 1529 ---010-0-41 Male FRANCE BMD 112 1531 ---012-6-91 Male FRANCE BMD 112 1538 ---020-7-01 Male FRANCE BMD 112 1545 ---028-9-81 Male FRANCE BMD 112 1870 ---091-3-21 Male FRANCE BMD 115 1871 ---091-9-11 Male FRANCE BMD 115 1896 ---121-0-81 Male FRANCE BMD 115 1899 ---124-8-11 Male FRANCE BMD 115 1914 ---053-7-m121 Male - BMD 113 1920 ---065-0-m221 Male - BMD 113 1921 ---066-0-m241 Male - BMD 113 1924 ---085-3-m271 Male - BMD 113 1936 ---039-2-61 Male FRANCE BMD 106 1937 ---039-2-61 Male FRANCE BMD 106 1938 ---045-2-21 Male FRANCE BMD 106 1965 ---046-2-61 Male FRANCE BMD 106 1970 ---053-3-61 Male FRANCE BMD 106 1972 ---056-3-51 Male FRANCE BMD 106 2141 ---091-9-m1 Male FRANCE BMD 114 2144 ---099-E-11 Male FRANCE BMD 114 2148 ---103-1-m1 Male FRANCE BMD 114 2150 ---105-1-m1 Male FRANCE BMD 114 2154 ---113-1-m1 Male FRANCE BMD 114 2156 ---118-C-41 Male FRANCE BMD 114 2159 ---122-X-61 Male FRANCE BMD 114 2160 ---122-B-31 Male FRANCE BMD 114 2161 ---122-B-81 Male FRANCE BMD 114 2162 ---122-B-111 Male FRANCE BMD 114 2163 ---122-X-01 Male FRANCE BMD 114 2164 ---122-X-41 Male FRANCE BMD 114 2171 ---131-C-11 Male FRANCE BMD 114 2172 ---131-C-71 Male FRANCE BMD 114 2173 ---131-Q-51 Male FRANCE BMD 114 2182 ---141-2-m1 Male FRANCE BMD 114 2186 ---158-5-m1 Male FRANCE BMD 114 2203 ---187-2-m1 Male FRANCE BMD 114 2213 ---200-G-11 Male FRANCE BMD 114 2226 ---222-8-m1 Male FRANCE BMD 114 2328 ---020-7-11 Male FRANCE BMD 112 2330 ---251-5-6271 Male FRANCE BMD 116 2331 ---251-5-7341 Male FRANCE BMD 116 2385 ---323-7-11 Male FRANCE BMD 106 2422 ---027-4-41 Male FRANCE Pending 126 2429 ---033-5-61 Male FRANCE Pending 126 2487 ---077-7-01 Male FRANCE BMD 127 2490 ---075-1-11 Male FRANCE BMD 127 2507 ---313-E-141 Male FRANCE BMD 121 2559 ---175-2-0061 Male FRANCE BMD 121 2567 ---172-9-0181 Male FRANCE BMD 121 2609 ---472-3-31 Male FRANCE BMD 106 2652 ---472-4-21 Male FRANCE BMD 106 2693 ---108-9-81 Male FRANCE BMD 115 2706 ---072-6-71 Male FRANCE BMD 110 2717 INDIA Symptomatic carrier 128 2720 ---060-2-81 Male FRANCE BMD 112 2773 ---198-5-0461 Male FRANCE BMD 121 1673 ---018-6-31 Male FRANCE BMD 112 1685 ---251-5-7271 Male FRANCE BMD 116 2333 ---251-5-6351 Male FRANCE BMD 116 1726 ---251-5-4751 Male FRANCE BMD 116 1797 ---272-2-5151 Male FRANCE BMD 116 420 ---256-0-1 Male FRANCE BMD 1 424 ---414-1-1 Male FRANCE BMD 1 426 ---414-0-1 Male FRANCE BMD 1 434 ---181-0-1 Male FRANCE BMD 9 462 ---016-0-1 Male FRANCE BMD 1 463 ---097-0-1 Male FRANCE BMD 1 464 ---134-0-1 Male FRANCE BMD 1 465 ---164-0-1 Male - BMD 1 466 ---190-0-1 Male FRANCE BMD 1 467 ---198-0-1 Male - BMD 1 468 ---218-0-1 Male FRANCE BMD 1 469 ---343-0-1 Male FRANCE BMD 1 470 ---451-0-1 Male FRANCE BMD 1 471 ---511-0-1 Male FRANCE BMD 1 482 ---427-0-1 Male FRANCE BMD 1 495 ---221-0-1 Male FRANCE BMD 1 497 ---170-0-1 Male FRANCE BMD 1 571 ---398-0-1 Male ALGERIA BMD 1 580 ---031-0-1 Male FRANCE BMD 1 581 ---077-0-1 Male FRANCE BMD 1 582 ---077-2-1 Male FRANCE BMD 1 583 ---091-0-1 Male FRANCE BMD 1 584 ---134-4-1 Male FRANCE BMD 1 585 ---134-0-1 Male FRANCE BMD 1 586 ---156-0-1 Male FRANCE BMD 1 587 ---161-1-1 Male FRANCE BMD 1 588 ---161-0-1 Male FRANCE BMD 1 589 ---199-0-1 Male FRANCE BMD 1 590 ---223-0-1 Male - BMD 1 591 ---243-0-1 Male - BMD 1 593 ---318-0-1 Male - BMD 1 594 ---392-0-1 Male - BMD 1 595 ---413-0-1 Male - BMD 1 596 ---426-0-1 Male - BMD 1 597 ---427-0-1 Male - BMD 1 598 ---434-0-1 Male - BMD 1 599 ---481-0-1 Male - BMD 1 600 ---484-0-1 Male - BMD 1 817 ---077-1-1 Male FRANCE BMD 1 867 ---657-0-1 Male - BMD 1 886 ---613-0-1 Male - BMD 1 1046 ---016-1-1 Male FRANCE BMD 1 1124 ---031-1-1 Male FRANCE BMD 1 1125 ---031-2-1 Male FRANCE BMD 1 1126 ---031-3-1 Male FRANCE BMD 1 1226 ---724-0-1 Male - BMD 1 1365 ---134-0-1 Male FRANCE BMD 1 1366 ---134-2-1 Male FRANCE BMD 1 1367 ---134-3-1 Male FRANCE BMD 1 1375 ---673-0-1 Male - BMD 1 2792 ---181-0-1 Male FRANCE BMD 9 2802 ---156-0-2 Female FRANCE Symptomatic carrier 1 2803 ---199-1-1 Male FRANCE BMD 1 2804 ---199-2-1 Male FRANCE BMD 1 1481 ---484-1-1 Male - BMD 1 2948 ---181-0-1 Male FRANCE BMD 9 2958 ---156-0-2 Female FRANCE Symptomatic carrier 1 2959 ---199-1-1 Male FRANCE BMD 1 2960 ---199-2-1 Male FRANCE BMD 1 3008 ---730-0-1 Male FRANCE BMD 1 3054 ---763-0-1 Male FRANCE BMD 1 3082 ---799-0-1 Male FRANCE BMD 1 3167 ---097-0-1 Male - BMD 1 3194 ---905-0-1 Male FRANCE BMD 1 3257 ---016-2-1 Male FRANCE BMD 1 3319 ---934-0-1 Male FRANCE BMD 1 3348 ---934-0-1 Male FRANCE BMD 1 3356 ---218-0-1 Male FRANCE BMD 1 3458 ---963-0-1 Male FRANCE BMD 1 3535 ---259-0-1 Male FRANCE BMD 1 2851 ---236-0-1 Male FRANCE BMD 1 2927 ---102-0-11 Male FRANCE BMD 1 2930 ---576-0-1 Male FRANCE BMD 1 2931 ---576-1-1 Male FRANCE BMD 1 2932 ---576-2-1 Male FRANCE Pending 1 2934 ---101-2-11 Male FRANCE BMD 1
p.Glu2147_Lys2400del	c.6439_7200del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 49	InF	In frame del	44
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1990 ---163-0-421 Male FRANCE BMD 121 1991 ---163-0-431 Male FRANCE BMD 121 1996 ---026-2-41 Male FRANCE BMD 117 2079 ---009-D-11 Male FRANCE BMD 114 2080 ---009-D-31 Male FRANCE BMD 114 1470 ---060-4-01 Male FRANCE BMD 110 1471 ---024-2-01 Male FRANCE BMD 110 2219 ---211-0-m1 Male FRANCE BMD 114 2418 ---024-3-31 Male FRANCE Pending 126 2755 ---108-9-81 Male FRANCE BMD 112 2781 ---998-1-4731 Male FRANCE BMD 117 241 ---463-0-1 Male - BMD 1 1721 ---285-0-011 Male FRANCE BMD 116 1722 ---285-0-701 Male FRANCE BMD 116 1747 ---285-0-731 Male FRANCE BMD 116 1789 ---285-0-511 Male FRANCE BMD 116 1790 ---285-0-821 Male FRANCE BMD 116 405 ---471-0-1 Male - BMD 1 472 ---036-0-1 Male FRANCE BMD 1 473 ---036-1-1 Male FRANCE BMD 1 474 ---439-0-1 Male FRANCE BMD 1 494 ---134-0-1 Male FRANCE BMD 1 601 ---044-0-1 Male - BMD 1 602 ---044-1-1 Male - BMD 1 603 ---044-2-1 Male - BMD 1 1143 ---044-3-1 Male - BMD 1 605 ---073-2-1 Male FRANCE BMD 1 606 ---181-0-1 Male - BMD 1 607 ---270-0-1 Male - BMD 1 608 ---273-0-1 Male - BMD 1 1164 ---073-0-1 Male FRANCE BMD 1 1165 ---073-1-1 Male FRANCE BMD 1 1350 ---181-1-1 Male - BMD 1 1371 ---178-0-1 Male FRANCE BMD 1 1385 ---650-0-1 Male - BMD 1 2793 ---439-1-1 Male FRANCE BMD 1 2949 ---439-1-1 Male FRANCE BMD 1 3232 ---813-0-1 Male ITALIA Pending 1 3254 ---098-0-1 Male FRANCE BMD 1 3263 ---073-3-1 Male FRANCE BMD 1 3281 ---918-0-1 Male FRANCE BMD 1 3286 ---903-0-1 Male FRANCE BMD 1 3287 ---903-1-1 Male FRANCE BMD 1 3440 ---073-4-1 Male FRANCE BMD 1
p.Lys2146_Glu2147ins254AA	c.6439_7201dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 49	Fr.	In frame ins	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1752 ---149-1-1631 Male FRANCE DMD 116 1753 ---149-1-1671 Male FRANCE DMD 119 3407 ---158-0-1 Male FRANCE DMD 1 2432 ---158-1-1 Male FRANCE DMD 1
p.Glu2147LeufsX9	c.6439_7309del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 50	Fr.	Stop at 2155	57
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2019 ---820-1-8071 Male FRANCE DMD 117 2033 ---014-0-61 Male FRANCE DMD 122 2049 ---043-0-21 Male FRANCE DMD 122 1496 ---039-1-81 Male FRANCE DMD 110 1933 ---030-1-11 Male FRANCE DMD 106 1969 ---052-3-51 Male FRANCE DMD 106 2179 ---136-7-m1 Male FRANCE DMD 114 1824 ---033-8-51 Male FRANCE DMD 115 1825 ---034-3-41 Male FRANCE DMD 115 2337 ---C20-6-7291 Male FRANCE DMD 116 2342 ---219-0-M41 Male FRANCE Pending 121 2343 ---218-L-411 Male FRANCE DMD 121 2344 ---218-L-391 Male FRANCE DMD 121 2425 ---030-4-21 Male FRANCE Pending 126 2531 ---087-8-81 Male FRANCE Pending 126 2530 ---084-7-51 Male FRANCE Pending 126 2524 ---059-6-31 Male FRANCE DMD 127 2523 ---165-6-DA451 Male FRANCE DMD 121 2643 ---210-1-231 Male FRANCE DMD 115 2713 ---110-7-41 Male FRANCE DMD 112 2777 ---224-6-241 Male FRANCE DMD 115 83 ---085-0-1 Male - DMD 1 84 ---342-0-1 Male - DMD 1 242 ---019-0-1 Male FRANCE DMD 1 243 ---064-0-1 Male FRANCE DMD 1 245 ---148-0-1 Male - DMD 1 246 ---177-0-1 Male - DMD 1 247 ---194-0-1 Male - DMD 1 248 ---195-0-1 Male FRANCE DMD 1 249 ---242-0-1 Male FRANCE DMD 1 250 ---475-0-1 Male FRANCE DMD 1 1645 ---090-6-11 Male FRANCE DMD 106 1681 ---219-3-4521 Male FRANCE DMD 116 1699 ---154-2-0041 Male FRANCE DMD 116 1766 ---271-5-5111 Male FRANCE DMD 116 1772 ---C56-0-431 Male FRANCE DMD 116 1800 ---003-7-01 Male FRANCE DMD 115 1813 ---019-1-61 Male FRANCE DMD 115 1814 ---019-1-01 Male FRANCE DMD 115 1037 ---553-0-1 Male FRANCE DMD 1 1040 ---601-0-1 Male FRANCE DMD 1 1045 ---666-0-1 Male FRANCE DMD 1 1061 ---705-0-1 Male LEIBANON DMD 1 1289 ---732-0-1 Male FRANCE DMD 1 1579 ---747-0-1 Male FRANCE DMD 1 3012 ---079-0-1 Male - DMD 1 1714 ---104-0-1 Male FRANCE DMD 1 3186 ---865-0-1 Male - DMD 1 3196 ---908-0-1 Male FRANCE DMD 1 3282 ---942-0-1 Male FRANCE DMD 1 3369 ---853-0-1 Male ITALIA DMD 1 3374 ---024-0-1 Male FRANCE DMD 1 3379 ---065-0-1 Male FRANCE DMD 1 2440 ---130-0-1 Male FRANCE DMD 1 3465 ---977-0-1 Male ROMANIA DMD 1 3501 ---435-0-1 Male FRANCE DMD 1 2937 ---102-9-11 Male FRANCE DMD 1
p.Ser2437X	c.6439_7310dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 50		Stop at 2437	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3409 ---081-0-1 Male FRANCE DMD 1
p.Glu2147_Lys2514del	c.6439_7542del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 51	InF	In frame del	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2006 ---102-1-30541 Male FRANCE Pending 117 1490 ---032-3-81 Male FRANCE BMD 110 2133 ---078-3-m1 Male FRANCE BMD 114 1823 ---032-3-81 Male FRANCE DMD 115 1837 ---047-1-11 Male FRANCE Pending 115 2319 ---051-6-81 Male FRANCE BMD 112 2538 ---450-2-61 Male FRANCE BMD 106 2526 ---068-6-41 Male FRANCE Pending 126 2629 ---002-0-21 Male FRANCE BMD 128 2649 ---503-4-71 Male FRANCE Pending 106 421 ---346-0-1 Male FRANCE BMD 1
p.Glu2147LeufsX22	c.6439_7660del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 52	Fr.	Stop at 2168	48
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2008 ---143-8-86611 Male FRANCE DMD 117 2074 ---003-0-m1 Male FRANCE DMD 114 1498 ---041-2-71 Male FRANCE DMD 110 1578 ---186-0-81 Male LEIBANON DMD 106 1867 ---088-0-91 Male FRANCE Pending 115 1868 ---088-0-31 Male FRANCE Pending 115 1884 ---105-2-61 Male FRANCE Pending 115 1948 ---062-3-51 Male FRANCE DMD 106 1966 ---047-2-31 Male FRANCE DMD 106 2200 ---178-1-m1 Male FRANCE DMD 114 1832 ---042-4-81 Male FRANCE DMD 115 2359 ---186-1-01 Male LEIBANON DMD 106 2368 ---079-A-31 Male FRANCE DMD 114 2392 ---426-1-91 Male FRANCE DMD 106 2506 ---733-L-681 Male FRANCE DMD 121 2520 ---155-5-CD941 Male FRANCE DMD 121 2635 ---008-0-81 Male FRANCE DMD 128 3 ---141-0-2 Female FRANCE Symptomatic carrier 11 77 ---036-0-1 Male - DMD 1 85 ---065-0-1 Male - DMD 1 86 ---140-0-1 Male - DMD 1 87 ---224-0-1 Male - DMD 1 88 ---413-0-1 Male - DMD 1 252 ---036-0-1 Male FRANCE DMD 1 253 ---067-0-1 Male - DMD 1 254 ---068-0-1 Male - DMD 1 255 ---087-0-1 Male FRANCE DMD 1 256 ---170-0-1 Male - DMD 1 257 ---174-0-1 Male - DMD 1 258 ---183-0-1 Male FRANCE DMD 1 259 ---189-0-1 Male - DMD 119 260 ---323-0-1 Male - DMD 1 261 ---410-0-1 Male - DMD 1 262 ---461-0-1 Male FRANCE DMD 1 263 ---507-0-1 Male - DMD 1 264 ---517-0-1 Male - DMD 1 1718 ---C60-0-651 Male FRANCE DMD 116 1780 ---218-6-3991 Male FRANCE DMD 116 1811 ---017-8-71 Male FRANCE DMD 115 986 ---650-0-1 Male - DMD 1 1041 ---615-0-1 Male - DMD 1 1060 ---704-0-1 Male - DMD 1 1079 ---710-0-1 Male - DMD 1 1080 ---710-1-1 Male - DMD 1 1127 ---036-1-1 Male - DMD 1 1155 ---065-1-1 Male - DMD 1 3185 ---865-0-1 Male - DMD 1 3228 ---049-0-1 Male FRANCE DMD 119
p.Glu2147_Lys2624del	c.6439_7872del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 53	InF	In frame del	50
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2013 ---172-2-22971 Male FRANCE BMD 117 1485 ---019-4-81 Male FRANCE BMD 110 1522 ---003-9-31 Male FRANCE BMD 112 1549 ---032-4-71 Male FRANCE Pending 112 1879 ---100-7-01 Male FRANCE BMD 115 1889 ---112-3-71 Male FRANCE BMD 115 1895 ---120-6-01 Male FRANCE BMD 115 1939 ---031-1-71 Male FRANCE BMD 106 1940 ---031-1-91 Male FRANCE BMD 106 1941 ---031-2-31 Male FRANCE BMD 106 1942 ---031-1-61 Male FRANCE BMD 106 2117 ---050-5-81 Male FRANCE BMD 110 2151 ---109-2-m1 Male FRANCE BMD 114 2594 ---CM1-0-21 Male FRANCE BMD 106 2465 ---019-4-41 Male FRANCE BMD 127 2568 ---172-0-0481 Male FRANCE BMD 121 2678 ---536-6-21 Male FRANCE BMD 106 2763 ---528-5-81 Male FRANCE BMD 106 2784 ---010-6-m201 Male FRANCE BMD 113 2572 ---818-0-851 Male FRANCE BMD 116 1816 ---022-1-41 Male FRANCE BMD 115 427 ---115-0-1 Male - BMD 1 428 ---435-0-1 Male FRANCE BMD 1 475 ---117-0-1 Male - BMD 1 476 ---158-0-1 Male - BMD 1 477 ---189-0-1 Male FRANCE BMD 1 478 ---233-0-1 Male FRANCE BMD 1 610 ---027-1-1 Male FRANCE BMD 1 611 ---218-1-1 Male - BMD 1 612 ---218-0-1 Male - BMD 1 613 ---411-0-1 Male FRANCE BMD 1 614 ---412-0-1 Male - BMD 1 615 ---412-1-1 Male - BMD 1 616 ---488-0-1 Male - BMD 1 697 ---555-0-1 Male FRANCE BMD 1 757 ---666-0-1 Male FRANCE BMD 1 788 ---218-2-1 Male - BMD 1 977 ---555-1-1 Male FRANCE BMD 1 978 ---555-2-1 Male FRANCE BMD 1 979 ---555-3-1 Male FRANCE BMD 1 1076 ---027-0-1 Male FRANCE BMD 1 1077 ---027-0-2 Female FRANCE Symptomatic carrier 1 2794 ---158-1-1 Male - BMD 1 2950 ---158-1-1 Male - BMD 1 3047 ---752-0-1 Male FRANCE BMD 1 3048 ---332-0-1 Male FRANCE BMD 1 3173 ---555-4-1 Male FRANCE BMD 1 3174 ---555-5-1 Male FRANCE BMD 1 3431 ---325-0-1 Male FRANCE IMD 1 3582 ---666-1-1 Male FRANCE BMD 1
p.Glu2147GlyfsX3	c.6439_8027del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 54	Fr.	Stop at 2149	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1512 ---132-8-51 Male LEIBANON DMD 106 1513 ---132-8-61 Male LEIBANON DMD 106 1574 ---180-0-41 Male FRANCE DMD 106 1869 ---090-0-71 Male FRANCE Pending 115 2140 ---090-F-11 Male FRANCE DMD 114 2196 ---172-8-m1 Male FRANCE Pending 114 2235 ---234-5-m1 Male FRANCE DMD 114 2366 ---053-9-m1 Male FRANCE DMD 114 89 ---039-0-1 Male FRANCE DMD 119 265 ---088-0-1 Male - DMD 1 266 ---088-1-1 Male - DMD 1 267 ---174-0-1 Male - DMD 1 268 ---190-0-1 Male - DMD 1 1697 ---157-2-0031 Male FRANCE DMD 116 1134 ---039-1-1 Male - DMD 1 2818 ---750-0-1 Male - DMD 1 2974 ---750-0-1 Male - DMD 1 3042 ---800-0-1 Male FRANCE DMD 1
p.Glu2147_Gln2739del	c.6439_8217del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 55	InF	In frame del	54
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1533 ---014-6-81 Male FRANCE BMD 112 1557 ---121-7-21 Male FRANCE BMD 106 1583 ---199-1-21 Male FRANCE BMD 106 1599 ---241-3-81 Male FRANCE BMD 106 1874 ---095-1-01 Male FRANCE BMD 115 1903 ---015-0-31 Male - BMD 113 1917 ---059-0-m011 Male - BMD 113 1976 ---111-6-71 Male FRANCE BMD 106 1977 ---111-8-21 Male FRANCE BMD 106 2221 ---213-9-m1 Male FRANCE BMD 114 2334 ---289-1-7461 Male FRANCE BMD 116 2547 ---106-4-0431 Male FRANCE Pending 121 2546 ---113-5-0181 Male FRANCE BMD 121 2455 ---241-1-71 Male FRANCE BMD 106 2456 ---082-0-41 Male FRANCE BMD 122 2471 ---069-0-21 Male FRANCE BMD 127 2615 ---201-5-681 Male FRANCE BMD 115 2616 ---201-4-351 Male FRANCE BMD 115 2646 ---009-0-91 Male FRANCE BMD 128 2776 ---232-6-751 Male FRANCE Pending 115 2779 ---212-6-341 Male FRANCE BMD 115 1639 ---078-5-41 Male FRANCE BMD 106 1640 ---078-5-51 Male FRANCE BMD 106 1745 ---289-1-5601 Male FRANCE BMD 116 1787 ---289-1-5731 Male FRANCE BMD 116 425 ---229-0-1 Male FRANCE Asymptomatic 1 429 ---054-0-1 Male FRANCE BMD 1 430 ---228-0-1 Male FRANCE BMD 1 431 ---228-1-1 Male FRANCE BMD 1 479 ---191-0-1 Male FRANCE BMD 1 480 ---390-0-1 Male FRANCE BMD 1 481 ---507-0-1 Male FRANCE BMD 1 617 ---235-0-1 Male - BMD 1 618 ---255-0-1 Male FRANCE BMD 1 619 ---255-2-1 Male FRANCE BMD 1 620 ---387-0-1 Male FRANCE BMD 1 621 ---424-0-1 Male FRANCE BMD 1 622 ---466-0-1 Male FRANCE BMD 1 813 ---255-1-1 Male FRANCE BMD 1 1097 ---692-0-1 Male FRANCE BMD 1 1264 ---467-0-1 Male FRANCE BMD 1 1377 ---452-0-1 Male - BMD 1 1378 ---452-1-1 Male - BMD 1 1379 ---452-2-1 Male - BMD 1 1380 ---452-3-1 Male - BMD 1 1381 ---452-4-1 Male - BMD 1 2795 ---507-1-1 Male FRANCE BMD 1 2951 ---507-1-1 Male FRANCE BMD 1 3193 ---893-0-1 Male - BMD 1 3256 ---191-1-1 Male FRANCE BMD 1 3284 ---637-0-1 Male FRANCE BMD 1 3346 ---255-3-1 Male FRANCE BMD 1 3358 ---235-1-1 Male FRANCE BMD 1 2868 ---957-0-1 Male FRANCE BMD 1
p.Lys2146_Glu2147ins593AA	c.6439_8218dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 55	InF	In frame ins	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1741 ---157-9-3101 Male FRANCE Pending 116 3408 ---015-0-1 Male FRANCE DMD 1
p.Glu2147_Arg2849del	c.6439_8547del	45	2147	CRD-repeat #17		Large rearrangement Deletion from exon 45 to 57	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3188 ---866-0-1 Male ITALIA DMD 1 2708 ---067-0-1 Male FRANCE BMD 1
p.Lys2146_Glu2147ins882AA	c.6439_9085dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 60	InF	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2683 ---218-2-701 Male FRANCE DMD 115
p.Asn3075LysfsX17	c.6439_9225dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 62	Fr.	Stop at 3091	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1635 ---141-6-21 Male FRANCE DMD 106
	c.IVS44-1G>A (c.6439-1G>A)	45	2147			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3445 ---880-0-1 Male FRANCE Pending 1 3446 ---880-1-1 Male FRANCE Pending 1
	c.IVS44-2A>G (c.6439-2A>G)	45	2147			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3032 ---675-0-1 Male FRANCE BMD 10
p.Leu2185PhefsX38	c.6554dup	45	2185	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2222	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3269 ---926-0-1 Male FRANCE DMD 1 3350 ---926-0-2 Female 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 Biological significance Geographic origin Mutation type References 3373 ---938-0-1 Male FRANCE DMD 1
p.Leu2206StopfsX4	c.6615_11055del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 79	Fr.	Stop at 2209	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1247 ---152-0-1 Male - DMD 1
p.Arg2205SerfsX17	c.6615_6762del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 46	Fr.	Stop at 2221	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1467 ---002-3-41 Male FRANCE DMD 110 90 ---220-0-1 Male - DMD 1 269 ---255-0-1 Male - DMD 1 270 ---255-1-1 Male - DMD 1
p.Leu2206PhefsX16	c.6615_6912del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 47	Fr.	Stop at 2221	36
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2021 ---515-5-4951 Male FRANCE DMD 117 2103 ---046-4-m1 Male FRANCE DMD 114 1510 ---136-8-01 Male FRANCE DMD 106 1550 ---033-0-81 Male FRANCE DMD 112 1589 ---210-2-41 Male FRANCE DMD 106 1901 ---002-7-m151 Male - Pending 113 2218 ---208-A-31 Male FRANCE DMD 114 1827 ---036-3-01 Male FRANCE DMD 115 1830 ---040-2-81 Male FRANCE DMD 115 1849 ---059-5-01 Male FRANCE DMD 115 2378 ---237-9-MA1 Male FRANCE Pending 114 2379 ---237-9-MA1 Male FRANCE Pending 114 2517 ---146-9-BF431 Male TUNISIA DMD 121 2564 ---858-0-851 Male FRANCE DMD 121 2680 ---545-6-51 Male FRANCE DMD 106 17 ---521-0-1 Male - DMD 1 91 ---153-0-1 Male - DMD 1 92 ---180-0-1 Male FRANCE DMD 1 93 ---374-0-1 Male - DMD 1 272 ---034-0-1 Male - DMD 1 273 ---047-0-1 Male - DMD 1 274 ---069-0-1 Male - DMD 1 276 ---178-0-1 Male - DMD 1 1684 ---204-1-3161 Male FRANCE DMD 119 863 ---636-0-1 Male - DMD 1 898 ---663-0-1 Male - DMD 1 1351 ---660-0-1 Male - DMD 1 2822 ---751-0-1 Male - DMD 1 2978 ---751-0-1 Male - DMD 1 3050 ---078-0-1 Male - DMD 1 3180 ---812-0-1 Male FRANCE DMD 1 3184 ---865-0-1 Male - DMD 1 3278 ---073-0-1 Male FRANCE DMD 1 3395 ---950-0-1 Male FRANCE Pending 1 3529 ---981-0-1 Male FRANCE DMD 1 3585 ---021-0-2 Female FRANCE Symptomatic carrier 1
p.Val2305AlafsX17	c.6615_6913dup	45-46	2205	CRD-repeat #17		Large rearrangement Duplication from exon 46 to 47	Fr.	Stop at 2321	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2446 ---052-6-21 Male FRANCE Pending 126 154 ---062-0-1 Male - DMD 1
p.Leu2206LysfsX4	c.6615_7098del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 48	Fr.	Stop at 2209	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2083 ---014-0-m1 Male FRANCE DMD 114 2101 ---042-F-11 Male FRANCE DMD 114 2104 ---047-2-MA1 Male FRANCE Pending 114 1497 ---040-0-31 Male FRANCE DMD 110 1847 ---057-0-301 Male FRANCE DMD 115 2494 ---063-5-61 Male FRANCE DMD 110 2499 ---202-D-201 Male FRANCE DMD 121 2733 ---080-8-01 Male FRANCE DMD 112 94 ---231-0-1 Male - DMD 1 277 ---137-0-1 Male - DMD 119 279 ---283-0-1 Male - DMD 1 280 ---310-0-1 Male SAUDI ARABIA DMD 1 896 ---142-0-1 Male - DMD 1 2813 ---637-0-1 Male - DMD 1 2969 ---637-0-1 Male - DMD 1 1749 ---060-0-1 Male - DMD 1 3182 ---854-0-2 Female - Symptomatic carrier 1 3197 ---908-0-1 Male - DMD 1
p.Leu2206GlyfsX3	c.6615_7200del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 49	Fr.	Stop at 2208	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2131 ---070-C-21 Male FRANCE DMD 114 2153 ---111-9-m1 Male FRANCE DMD 114 2470 ---018-1-81 Male FRANCE DMD 127 2566 ---170-6-0681 Male FRANCE DMD 121 2674 ---814-7-8041 Male FRANCE DMD 116 1096 ---113-0-1 Male - DMD 1 283 ---127-0-1 Male - DMD 1 284 ---306-0-1 Male - DMD 1 285 ---309-0-1 Male - DMD 1 734 ---601-0-1 Male - DMD 1 1035 ---542-0-1 Male - DMD 1 1389 ---032-0-1 Male - DMD 1 3043 ---777-0-1 Male - DMD 1 3351 ---072-0-1 Male FRANCE DMD 1 2838 ---104-0-1 Male FRANCE DMD 1
p.Arg2205SerfsX16	c.6615_7309del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 50	Fr.	Stop at 2220	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2089 ---019-9-m1 Male FRANCE DMD 114 2099 ---038-6-A1 Male FRANCE DMD 114 2438 ---043-5-81 Male FRANCE Pending 126 2685 ---221-2-021 Male FRANCE DMD 115 2785 ---114-d-091 Male FRANCE Pending 113 96 ---241-0-1 Male - DMD 1 97 ---358-0-1 Male - DMD 1 98 ---531-0-1 Male ALGERIA DMD 1 286 ---084-0-1 Male - DMD 1 287 ---195-0-1 Male - DMD 1 288 ---308-0-1 Male - DMD 1 299 ---092-0-1 Male - DMD 119 300 ---259-0-1 Male - DMD 1 1652 ---068-4-21 Male FRANCE DMD 106 1688 ---C24-0-821 Male FRANCE DMD 116 1808 ---014-1-51 Male FRANCE DMD 115 1810 ---016-1-381 Male FRANCE DMD 115 1812 ---018-0-41 Male FRANCE Pending 115 742 ---389-0-1 Male - DMD 1 887 ---639-0-1 Male - DMD 1 3124 ---829-0-1 Male FRANCE IMD 1 3169 ---166-0-1 Male FRANCE DMD 119
p.Leu2206GlnfsX23	c.6615_7542del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 51	Fr.	Stop at 2228	26
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1982 ---134-1-0461 Male FRANCE DMD 121 1997 ---113-0-69841 Male FRANCE DMD 117 2014 ---169-7-20161 Male FRANCE DMD 117 2015 ---164-1-13461 Male FRANCE DMD 117 2100 ---041-F-21 Male FRANCE DMD 114 1473 ---026-4-61 Male FRANCE DMD 110 2228 ---225-8-m1 Male FRANCE DMD 114 2229 ---225-8-m1 Male FRANCE DMD 114 1835 ---045-4-01 Male FRANCE DMD 115 2462 ---084-1-21 Male FRANCE DMD 127 2498 ---203-D-661 Male FRANCE DMD 121 2756 ---109-6-71 Male FRANCE DMD 112 2780 ---407-4-06691 Male FRANCE DMD 117 99 ---144-0-1 Male - DMD 1 100 ---354-0-1 Male - DMD 1 101 ---423-0-1 Male FRANCE DMD 1 290 ---045-0-1 Male - DMD 1 291 ---074-0-1 Male - DMD 1 292 ---077-0-1 Male FRANCE DMD 1 293 ---273-0-1 Male - DMD 1 294 ---440-0-1 Male - DMD 1 1773 ---149-4-1591 Male FRANCE DMD 119 1774 ---149-4-1601 Male FRANCE DMD 116 1819 ---028-2-51 Male FRANCE DMD 115 1171 ---074-1-1 Male - DMD 1 1216 ---045-1-1 Male - DMD 1
p.Arg2205SerfsX2	c.6615_7660del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 52	Fr.	Stop at 2206	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1556 ---120-7-91 Male FRANCE DMD 106 1904 ---017-0-41 Male - DMD 113 1963 ---025-1-11 Male FRANCE DMD 106 1848 ---058-0-91 Male FRANCE DMD 115 102 ---145-0-1 Male FRANCE DMD 1 103 ---196-0-1 Male - DMD 1 296 ---245-0-1 Male - DMD 1 1029 ---175-0-1 Male - DMD 1 3096 ---836-0-1 Male - DMD 1 3187 ---865-0-1 Male - DMD 1 1988 ---876-0-1 Male FRANCE DMD 1 3329 ---523-0-1 Male FRANCE DMD 1 3456 ---974-0-1 Male FRANCE DMD 1 3495 ---979-0-1 Male FRANCE DMD 1
p.Arg2205SerfsX14	c.6615_7872del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 53	Fr.	Stop at 2218	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1918 ---060-0-m111 Male - DMD 113 2137 ---086-0-A1 Male FRANCE DMD 114 104 ---313-0-1 Male - DMD 1
p.Leu2206ThrfsX24	c.6615_8217del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 55	Fr.	Stop at 2229	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 105 ---185-0-1 Male - DMD 1 1707 ---224-2-4141 Male FRANCE DMD 119 1731 ---833-0-881 Male FRANCE DMD 116
p.Asp2740AlafsX17	c.6615_8218dup	45-46	2205	CRD-repeat #17		Large rearrangement Duplication from exon 46 to 55	Fr.	Stop at 2756	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2168 ---128-E-41 Male FRANCE DMD 114 2169 ---128-E-81 Male FRANCE DMD 114
	c.IVS45+1G>A (c.6614+1G>A)	45-46	2205			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3085 ---675-0-2 Female - Symptomatic carrier 1
p.Gly2241GlufsX6	c.6720delT	46	2240	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2246	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 962 ---544-0-1 Male - DMD 10
p.Gln2245X	c.6733C>T	46	2245	CRD-repeat #18		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3112 ---248-0-1 Male - DMD 1
p.Glu2248X	c.6742G>T	46	2248	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 677 ---125-0-1 Male - DMD 10
p.Leu2255_Lys2304del	c.6763_6912del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 47	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1857 ---068-6-31 Male FRANCE DMD 115
p.Leu2255_Gln2366del	c.6763_7098del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 48	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2365 ---026-8-m1 Male FRANCE Pending 114
p.Leu2255_Lys2400del	c.6763_7200del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 49	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1695 ---259-9-4932 Female FRANCE Symptomatic carrier 116
p.Val2257LeufsX7	c.6763_7309del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 50	Fr.	Stop at 2263	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2145 ---100-8-m1 Male FRANCE DMD 114 7 ---290-0-2 Female - Symptomatic carrier 1 301 ---432-0-1 Male FRANCE DMD 1 2805 ---290-1-2 Female - Symptomatic carrier 1 2961 ---290-1-2 Female - Symptomatic carrier 1
p.Leu2255_Lys2514del	c.6763_7542del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 51	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2632 ---005-0-51 Male FRANCE Pending 128 1817 ---026-9-01 Male FRANCE DMD 115
p.Leu2256LysfsX21	c.6763_7660del	47	2255	CRD-repeat #18		Large rearrangement Deletion from exon 47 to 52	Fr.	Stop at 2276	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2001 ---751-1-7741 Male FRANCE DMD 117 2402 ---009-0-81 Male FRANCE Pending 126 2411 ---015-1-41 Male FRANCE Pending 126 302 ---026-0-1 Male - DMD 1 1717 ---157-2-2341 Male FRANCE DMD 119
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 Biological significance Geographic origin Mutation type References 3294 ---101-0-1 Male ALGERIA DMD 1 3310 ---101-1-1 Male FRANCE DMD 1
p.Gly2265GlufsX6	c.6794delG	47	2265	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2274 ---147-0-m1 Male 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 Biological significance Geographic origin Mutation type References 3156 ---079-0-1 Male - DMD 1
p.Gln2269AsnfsX2	c.6805delC	47	2269	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3088 ---834-0-1 Male - DMD 1
p.Ile2283SerfsX9	c.6843_6846dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2291	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2125 ---402-0-31 Male FRANCE DMD 106
p.Ser2284LysfsX7	c.6848dup	47	2283	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1465 ---184-2-91 Male FRANCE DMD 100
p.Lys2294X	c.6880A>T	47	2294	CRD-repeat #18		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1430 ---247-4-71 Male FRANCE DMD 100
p.Arg3673PhefsX6	c.6913_11015dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 77	Fr.	Stop at 3678	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2023 ---362-9-11 Male FRANCE DMD 106
p.Val2305_Gln2366del	c.6913_7098del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 48	InF	In frame del	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1986 ---759-0-141 Male FRANCE Pending 121 2327 ---062-5-01 Male FRANCE BMD 110 1551 ---035-9-01 Male FRANCE BMD 112 1877 ---098-0-61 Male FRANCE BMD 115 1890 ---114-6-11 Male FRANCE BMD 115 1922 ---068-1-m031 Male - BMD 113 1923 ---068-1-m041 Male - BMD 113 2199 ---177-0-m1 Male FRANCE BMD 114 2533 ---092-8-01 Male FRANCE Pending 126 2501 ---190-I-521 Male FRANCE BMD 121 2648 ---504-4-01 Male FRANCE Pending 106 2651 ---490-4-71 Male FRANCE BMD 106 2736 ---083-0-51 Male FRANCE BMD 112 2769 ---552-6-21 Male FRANCE BMD 106 1682 ---155-8-2131 Male FRANCE BMD 116 3181 ---825-0-1 Male FRANCE BMD 1
p.Val2305_Lys2400del	c.6913_7200del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 49	InF	In frame del	37
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2017 ---130-7-07141 Male FRANCE BMD 117 2053 ---053-0-71 Male FRANCE BMD 122 1530 ---011-1-11 Male FRANCE BMD 112 1532 ---013-5-11 Male FRANCE BMD 112 1883 ---104-2-31 Male FRANCE BMD 115 1926 ---093-4-m101 Male - BMD 113 1973 ---058-3-11 Male FRANCE BMD 106 2345 ---183-D-931 Male FRANCE BMD 121 2528 ---072-7-11 Male FRANCE BMD 126 2514 ---135-7-AJ781 Male FRANCE BMD 121 2515 ---135-7-BC871 Male FRANCE Pending 121 2516 ---135-7-BC921 Male FRANCE Pending 121 2621 ---208-0-621 Male FRANCE BMD 115 2641 ---208-0-621 Male FRANCE BMD 115 2631 ---004-0-41 Male FRANCE BMD 128 2723 ---063-1-01 Male FRANCE BMD 112 417 ---160-0-1 Male FRANCE BMD 1 483 ---106-1-1 Male FRANCE BMD 1 484 ---106-0-1 Male FRANCE BMD 1 485 ---175-0-1 Male FRANCE BMD 1 486 ---297-0-1 Male FRANCE BMD 1 487 ---399-0-1 Male FRANCE BMD 1 488 ---399-1-1 Male FRANCE BMD 1 624 ---337-0-1 Male FRANCE BMD 1 625 ---361-0-1 Male - BMD 1 626 ---440-0-1 Male - BMD 1 840 ---186-0-1 Male FRANCE BMD 1 841 ---186-1-1 Male FRANCE BMD 1 1358 ---734-0-1 Male FRANCE BMD 1 2796 ---175-0-2 Female FRANCE Symptomatic carrier 1 2812 ---106-2-1 Male FRANCE Asymptomatic 1 2952 ---175-0-2 Female FRANCE Symptomatic carrier 1 2968 ---106-2-1 Male FRANCE Asymptomatic 1 3195 ---907-0-1 Male FRANCE BMD 1 3211 ---650-0-1 Male FRANCE BMD 1 3366 ---907-1-1 Male FRANCE BMD 1 3459 ---978-0-1 Male FRANCE DCM 1
p.Lys2304_Val2305ins96AA	c.6913_7201dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 49	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 16 ---474-0-1 Male FRANCE DMD 1
p.Val2305LeufsX9	c.6913_7309del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 50	Fr.	Stop at 2313	59
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1992 ---344-0-451 Male FRANCE DMD 121 1998 ---466-6-081 Male FRANCE DMD 117 2003 ---134-2-74151 Male FRANCE DMD 117 2069 ---084-0-71 Male FRANCE DMD 122 2093 ---021-C-11 Male FRANCE DMD 114 2111 ---060-8-m1 Male FRANCE DMD 114 1469 ---005-3-21 Male FRANCE DMD 110 1601 ---244-3-91 Male FRANCE DMD 106 1971 ---055-3-51 Male FRANCE DMD 106 2180 ---139-8-m1 Male FRANCE DMD 114 1842 ---052-1-11 Male FRANCE IMD 115 1854 ---065-8-81 Male FRANCE DMD 115 2427 ---031-5-01 Male FRANCE Pending 126 2527 ---069-6-51 Male FRANCE Pending 126 2509 ---640-G-321 Male FRANCE DMD 121 2511 ---749-A-B681 Male FRANCE DMD 121 2697 ---227-2-742 Female FRANCE Symptomatic carrier 115 2728 ---070-6-41 Male FRANCE DMD 112 2734 ---081-2-61 Male FRANCE DMD 112 2739 ---088-0-01 Male FRANCE DMD 112 2744 ---099-5-31 Male FRANCE DMD 112 2747 ---094-6-41 Male FRANCE DMD 112 2765 ---520-5-32 Female FRANCE Symptomatic carrier 106 8 ---358-0-2 Female FRANCE Symptomatic carrier 1 11 ---072-0-1 Male FRANCE DMD 1 106 ---089-0-1 Male FRANCE DMD 1 107 ---124-0-1 Male FRANCE DMD 1 108 ---145-0-1 Male - DMD 1 109 ---189-0-1 Male FRANCE DMD 119 110 ---237-0-1 Male - DMD 1 111 ---301-0-1 Male - DMD 1 271 ---016-0-1 Male FRANCE DMD 1 304 ---077-0-1 Male - DMD 1 305 ---124-0-1 Male - DMD 1 306 ---298-0-1 Male - DMD 1 307 ---298-1-1 Male - DMD 1 308 ---347-0-1 Male FRANCE DMD 1 309 ---495-0-1 Male - DMD 1 310 ---503-0-1 Male FRANCE DMD 1 311 ---516-0-1 Male ALGERIA DMD 1 1659 ---014-0-51 Male FRANCE DMD 106 1660 ---014-0-61 Male FRANCE DMD 106 1691 ---162-1-0011 Male FRANCE DMD 116 937 ---072-1-1 Male FRANCE DMD 1 939 ---124-1-1 Male FRANCE DMD 1 941 ---124-0-2 Female FRANCE Symptomatic carrier 1 981 ---685-0-1 Male FRANCE DMD 1 1047 ---016-0-2 Female FRANCE Symptomatic carrier 1 1048 ---016-0-2 Female FRANCE Symptomatic carrier 1 1093 ---717-0-1 Male FRANCE DMD 1 1748 ---735-0-1 Male FRANCE DMD 1 3052 ---809-0-1 Male FRANCE DMD 1 3165 ---030-0-1 Male - DMD 1 3300 ---132-0-1 Male FRANCE DMD 1 3344 ---914-0-1 Male FRANCE DMD 1 3457 ---964-0-1 Male FRANCE DMD 1 3531 ---072-2-1 Male FRANCE Pending 1 3542 ---302-0-1 Male FRANCE DMD 1 3556 ---100-7-11 Male FRANCE DMD 1
p.Ser2437CysfsX7	c.6913_7310dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 50	Fr.	Stop at 2443	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2718 ---002-5-11 Male FRANCE DMD 106 686 ---500-0-1 Male - DMD 1 687 ---500-1-1 Male - DMD 1 3339 ---900-0-2 Female FRANCE Symptomatic carrier 1
p.Val2305_Lys2514del	c.6913_7542del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 51	InF	In frame del	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2472 ---048-6-41 Male FRANCE BMD 127 432 ---179-0-1 Male FRANCE BMD 1 433 ---444-0-1 Male FRANCE BMD 1 489 ---414-0-1 Male FRANCE BMD 1 3562 ---996-0-1 Male FRANCE BMD 1
p.Val2305LeufsX22	c.6913_7660del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 52	Fr.	Stop at 2326	32
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1995 ---258-1-37211 Male FRANCE DMD 117 1855 ---066-1-31 Male FRANCE DMD 115 1865 ---076-9-61 Male FRANCE DMD 115 1906 ---024-0-61 Male - DMD 113 2184 ---156-E-21 Male FRANCE DMD 114 2208 ---195-D-21 Male FRANCE DMD 114 1840 ---050-1-71 Male FRANCE DMD 115 1844 ---054-5-01 Male FRANCE DMD 115 1850 ---060-1-921 Male FRANCE DMD 115 2423 ---028-4-31 Male FRANCE Pending 126 2483 ---062-6-91 Male FRANCE DMD 127 2508 ---284-E-851 Male FRANCE DMD 121 2618 ---203-6-832 Female FRANCE Symptomatic carrier 115 2721 ---061-2-21 Male FRANCE DMD 112 9 ---172-0-2 Female - Symptomatic carrier 1 10 ---222-0-2 Female - Symptomatic carrier 1 112 ---096-0-1 Male - DMD 1 113 ---329-0-1 Male - DMD 1 114 ---354-0-1 Male - DMD 1 313 ---151-0-1 Male - DMD 1 314 ---299-0-1 Male - DMD 1 1663 ---043-2-01 Male FRANCE DMD 106 1759 ---189-3-3561 Male FRANCE DMD 116 1763 ---C13-6-6191 Male FRANCE DMD 116 1792 ---189-3-2541 Male FRANCE DMD 116 1799 ---002-0-51 Male FRANCE DMD 115 627 ---166-0-1 Male FRANCE DMD 1 737 ---623-0-1 Male - DMD 1 1066 ---587-0-1 Male - DMD 1 1266 ---487-0-1 Male - DMD 1 3214 ---274-0-1 Male FRANCE DMD 1 3498 ---184-0-1 Male FRANCE DMD 1
p.Val2305_Lys2624del	c.6913_7872del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 53	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 506 ---088-0-1 Male FRANCE IMD 1 628 ---417-0-1 Male FRANCE DMD 1
p.Val2305GlyfsX3	c.6913_8027del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 54	Fr.	Stop at 2307	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2055 ---057-0-91 Male FRANCE DMD 122 2588 ---037-7-m2 Female FRANCE Symptomatic carrier 114 2460 ---053-2-61 Male FRANCE BMD 127 43 ---460-0-1 Male - DMD 1 315 ---410-0-1 Male - DMD 1 1679 ---044-2-41 Male FRANCE DMD 112 1765 ---204-8-3201 Male FRANCE DMD 119 631 ---164-0-1 Male - DMD 1 3189 ---866-0-1 Male - DMD 1
p.Val2677PhefsX16	c.6913_8028dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 54	Fr.	Stop at 2692	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3503 ---980-0-1 Male FRANCE DMD 1
p.Val2305_Gln2739del	c.6913_8217del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 55	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2149 ---104-5-m1 Male FRANCE BMD 114
p.Val2305_Arg2849del	c.6913_8547del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 57	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1585 ---201-1-81 Male FRANCE BMD 106
p.Val2305_Lys2979del	c.6913_8937del	48	2305	CRD-repeat #18		Large rearrangement Deletion from exon 48 to 59	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1534 ---015-7-41 Male FRANCE BMD 112 629 ---354-0-1 Male - BMD 1 3325 ---702-0-1 Male FRANCE BMD 1
p.Thr3055SerfsX7	c.6913_9164dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 61	Fr.	Stop at 3061	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 394 ---219-0-1 Male - DMD 1
p.Ala3096GlyfsX7	c.6913_9287dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 63	Fr.	Stop at 3102	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1693 ---161-6-0021 Male FRANCE DMD 119
	c.IVS47-2A>G (c.6913-2A>G)	48	2305			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1598 ---240-3-61 Male FRANCE DMD 100
p.Leu2337X	c.7010T>G	48	2337	CRD-repeat #19		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1577 ---185-0-31 Male SPAIN DMD 106
	c.IVS48+1G>A (c.7098+1G>A)	48	2366			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3268 ---504-5-11 Male FRANCE Pending 1
	c.IVS48+1G>T (c.7098+1G>T)	48	2366			Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2236 ---372-8-11 Male FRANCE DMD 106 2237 ---372-8-21 Male FRANCE DMD 106
p.Glu2367ValfsX13	c.7099_11055del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 79	InF	Stop at 2379	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3312 ---901-0-1 Male FRANCE DMD 1
p.Glu2367_Lys2400del	c.7099_7200del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 49	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3264 ---527-0-1 Male FRANCE Pending 1
p.Glu2367LeufsX9	c.7099_7309del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 50	Fr.	Stop at 2375	32
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1860 ---071-6-81 Male FRANCE DMD 115 1861 ---071-6-91 Male FRANCE DMD 115 1949 ---076-5-11 Male FRANCE DMD 106 1953 ---019-1-31 Male FRANCE DMD 106 1955 ---013-0-41 Male FRANCE DMD 106 1961 ---009-0-31 Male FRANCE DMD 106 2187 ---159-1-A1 Male LIBYA DMD 114 1831 ---041-3-41 Male FRANCE IMD 115 2428 ---032-5-21 Male FRANCE Pending 126 2481 ---089-5-21 Male FRANCE DMD 127 2504 ---165-0-B61 Male FRANCE DMD 121 2705 ---071-5-61 Male FRANCE DMD 110 2774 ---215-1-0461 Male FRANCE DMD 121 1 ---146-0-2 Female - Symptomatic carrier 1 2 ---146-1-2 Female - Symptomatic carrier 1 115 ---130-0-1 Male - DMD 1 116 ---441-0-1 Male FRANCE DMD 1 317 ---104-0-1 Male FRANCE DMD 1 318 ---355-0-1 Male FRANCE DMD 1 319 ---390-0-1 Male - DMD 1 2817 ---747-0-1 Male FRANCE DMD 1 2973 ---747-0-1 Male FRANCE DMD 1 2999 ---063-0-1 Male - DMD 1 3051 ---019-0-1 Male FRANCE DMD 1 3084 ---832-0-1 Male FRANCE DMD 1 3176 ---689-0-1 Male - DMD 1 3239 ---931-0-1 Male FRANCE DMD 1 3277 ---523-0-1 Male FRANCE DMD 1 3368 ---924-0-1 Male FRANCE DMD 1 2441 ---121-0-1 Male FRANCE DMD 1 3430 ---873-0-1 Male FRANCE DMD 1 3520 ---888-0-1 Male FRANCE DMD 1
p.Ser2437X	c.7099_7310dup	49	2367	CRD-repeat #19		Large rearrangement Duplication from exon 49 to 50	Fr.	Stop at 2437	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1593 ---225-2-41 Male FRANCE DMD 100 141 ---318-0-1 Male - DMD 1 1315 ---318-1-1 Male - DMD 1 1316 ---318-2-1 Male - DMD 1
p.Glu2367_Lys2514del	c.7099_7542del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 51	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 630 ---333-0-1 Male FRANCE BMD 1 2847 ---982-0-1 Male FRANCE BMD 1
p.Glu2367LeufsX22	c.7099_7660del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 52	Fr.	Stop at 2388	24
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2016 ---235-2-01 Male FRANCE DMD 117 2054 ---055-0-81 Male FRANCE DMD 122 2085 ---016-3-m1 Male FRANCE DMD 114 2096 ---029-B-61 Male FRANCE DMD 114 1821 ---030-3-01 Male FRANCE DMD 115 1974 ---104-6-01 Male FRANCE DMD 106 1852 ---062-8-21 Male FRANCE Pending 115 2475 ---033-2-71 Male FRANCE DMD 127 2485 ---080-6-71 Male FRANCE DMD 127 2757 ---111-4-12 Female FRANCE Symptomatic carrier 112 320 ---142-0-1 Male - DMD 1 1614 ---248-4-41 Male FRANCE DMD 106 1646 ---094-6-81 Male FRANCE IMD 106 2583 ---154-9-0051 Male FRANCE DMD 116 1743 ---218-3-3721 Male FRANCE DMD 116 2582 ---154-9-0061 Male FRANCE DMD 116 1804 ---010-0-51 Male FRANCE DMD 115 736 ---621-0-1 Male - DMD 1 1393 ---119-0-1 Male - DMD 1 3002 ---594-0-1 Male FRANCE BMD 1 3045 ---766-0-1 Male - DMD 1 3226 ---083-0-1 Male FRANCE DMD 1 3367 ---911-0-1 Male FRANCE DMD 1 3475 ---982-0-1 Male ALGERIA DMD 1
p.Glu2367GlyfsX3	c.7099_8027del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 54	Fr.	Stop at 2369	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1503 ---046-1-11 Male FRANCE DMD 110 1882 ---103-2-61 Male FRANCE Pending 115 2314 ---039-9-22 Female FRANCE Symptomatic carrier 112 2469 ---051-6-21 Male FRANCE DMD 127 1809 ---015-1-31 Male FRANCE DMD 115
p.Glu2367ArgfsX34	c.7099_9163del	49	2367	CRD-repeat #19		Large rearrangement Deletion from exon 49 to 61	Fr.	Stop at 2400	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1546 ---029-3-81 Male FRANCE DMD 112
p.Glu2369X	c.7105G>T	49	2369	CRD-repeat #19		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 675 ---552-0-1 Male FRANCE BMD 1
p.Arg2401ValfsX22	c.7201_11055del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 79	InF	Stop at 2422	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 706 ---092-0-1 Male FRANCE IMD 2 3039 ---092-0-2 Female FRANCE Symptomatic carrier 2 3288 ---092-0-2 Female FRANCE Symptomatic carrier 1 3289 ---092-0-2 Female FRANCE Symptomatic carrier 1 3290 ---092-1-1 Male FRANCE Pending 1 3291 ---092-0-2 Female FRANCE Symptomatic carrier 1
p.Arg2401LeufsX9	c.7201_7309del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 50	Fr.	Stop at 2409	17
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1983 ---116-4-0561 Male FRANCE DMD 121 2067 ---083-0-51 Male FRANCE DMD 122 1499 ---042-1-61 Male FRANCE DMD 110 1541 ---023-1-51 Male FRANCE DMD 112 1908 ---034-0-81 Male - DMD 113 2195 ---170-4-MA1 Male LEIBANON Pending 114 2209 ---197-G-11 Male FRANCE DMD 114 2225 ---220-D-31 Male FRANCE DMD 114 2448 ---054-6-61 Male FRANCE Pending 126 2477 ---034-2-71 Male FRANCE DMD 127 2666 ---067-6-81 Male FRANCE DMD 110 2707 ---113-7-m101 Male FRANCE DMD 113 119 ---113-0-1 Male - DMD 1 120 ---225-0-1 Male FRANCE DMD 1 326 ---447-0-2 Female - Symptomatic carrier 1 2920 ---090-0-1 Male FRANCE DMD 1 2922 ---090-1-1 Male FRANCE DMD 1
p.Ser2437X	c.7201_7310dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 50	Fr.	Stop at 2437	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2222 ---214-5-m1 Male FRANCE DMD 114 2837 ---884-0-1 Male FRANCE DMD 1
p.Arg2401_Lys2514del	c.7201_7542del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 51	InF	In frame del	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2127 ---066-C-61 Male FRANCE DMD 114 2233 ---230-6-m1 Male FRANCE BMD 114
p.Arg2401LeufsX22	c.7201_7660del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 52	Fr.	Stop at 2422	19
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2045 ---039-0-81 Male FRANCE DMD 122 2090 ---020-0-61 Male FRANCE DMD 114 2091 ---020-0-81 Male FRANCE DMD 114 2092 ---020-0-91 Male FRANCE DMD 114 1492 ---034-1-51 Male FRANCE DMD 110 1952 ---020-1-41 Male FRANCE DMD 106 2177 ---134-P-01 Male FRANCE DMD 114 2518 ---151-0-BS331 Male EGYPT DMD 121 117 ---385-1-1 Male - DMD 1 118 ---385-0-1 Male - DMD 1 121 ---080-0-1 Male - DMD 1 328 ---341-0-1 Male - DMD 1 329 ---348-0-1 Male - DMD 1 1815 ---021-8-11 Male FRANCE DMD 115 707 ---621-0-1 Male - DMD 1 862 ---643-0-1 Male - DMD 1 1064 ---067-0-1 Male - DMD 1 3280 ---943-0-1 Male FRANCE DMD 1 3433 ---578-0-1 Male FRANCE DMD 1
p.Lys2400_Arg2401ins224AA	c.7201_7873dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 53		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3357 ---934-0-2 Female FRANCE DMD 1
p.Arg2401GlyfsX3	c.7201_8027del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 54	Fr.	Stop at 2403	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1675 ---038-1-61 Male FRANCE DMD 112 2820 ---750-0-1 Male - DMD 1 2976 ---750-0-1 Male - DMD 1
p.Lys2400_Arg2401ins339AA	c.7201_8218dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2488 ---093-4-81 Male FRANCE DMD 127
p.Ser2798GlyfsX3	c.7201_8391dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 56	Fr.	Stop at 2800	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3507 ---951-0-2 Female FRANCE Symptomatic carrier 1
p.Arg2401SerfsX29	c.7201_8668del	50	2401	CRD-repeat #19		Large rearrangement Deletion from exon 50 to 58	Fr.	Stop at 2429	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 347 ---179-0-1 Male FRANCE DMD 1
p.Lys2400_Arg2401ins628AA	c.7201_9085dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 60	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 149 ---149-0-1 Male - DMD 1
p.Thr3055LysfsX9	c.7201_9164dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 61	Fr.	Stop at 3063	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2119 ---052-5-21 Male FRANCE DMD 110
p.Asn3075LysfsX4	c.7201_9225dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 62	Fr.	Stop at 3078	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2729 ---073-5-31 Male FRANCE DMD 112
p.Leu2416TyrfsX5	c.7247delT	50	2416	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2420	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3017 ---066-0-1 Male - DMD 10
p.Ser2437_Gly3641delinsCys	c.7310_10921del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 76	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3309 ---884-0-1 Male FRANCE Pending 1
p.Ser2437CysfsX33	c.7310_7542del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 51	Fr.	Stop at 2469	49
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2048 ---042-0-11 Male FRANCE DMD 122 1474 ---015-2-31 Male FRANCE DMD 110 1493 ---035-3-71 Male FRANCE Pending 110 1586 ---203-1-71 Male FRANCE DMD 106 1859 ---070-3-81 Male FRANCE DMD 115 1864 ---075-7-51 Male FRANCE DMD 115 1925 ---086-3-m361 Male - DMD 113 1950 ---071-4-91 Male FRANCE DMD 106 1951 ---071-4-31 Male FRANCE DMD 106 2224 ---219-B-11 Male FRANCE DMD 114 2232 ---228-E-11 Male FRANCE DMD 114 1843 ---053-5-11 Male FRANCE IMD 115 2590 ---101-5-m1 Male LEIBANON DMD 114 2388 ---333-7-51 Male ITALIA DMD 106 2532 ---089-8-51 Male FRANCE Pending 126 2521 ---161-6-CQ581 Male EGYPT DMD 121 41 ---109-0-1 Male - DMD 1 122 ---159-0-1 Male - DMD 1 123 ---165-0-1 Male - DMD 1 145 ---481-0-1 Male - DMD 1 330 ---038-0-1 Male - DMD 1 331 ---039-0-1 Male - DMD 1 332 ---078-0-1 Male - DMD 1 333 ---112-0-1 Male - DMD 119 334 ---148-0-1 Male - DMD 1 335 ---151-0-1 Male - DMD 1 336 ---151-0-1 Male - DMD 1 338 ---318-0-1 Male FRANCE DMD 1 339 ---354-0-1 Male - DMD 1 1619 ---336-7-31 Male FRANCE DMD 106 1644 ---088-6-01 Male FRANCE DMD 106 1696 ---C24-0-061 Male FRANCE DMD 116 1757 ---214-9-4561 Male FRANCE DMD 116 1783 ---174-2-3491 Male FRANCE DMD 119 1785 ---218-5-3731 Male FRANCE DMD 119 716 ---086-0-1 Male - DMD 1 733 ---598-0-1 Male FRANCE DMD 1 1207 ---038-1-1 Male - DMD 1 1209 ---038-2-1 Male - DMD 1 1262 ---348-0-1 Male - DMD 1 1268 ---573-0-1 Male - DMD 1 2810 ---112-0-2 Female - Symptomatic carrier 1 2966 ---112-0-2 Female - Symptomatic carrier 1 3127 ---348-1-1 Male - DMD 1 3318 ---853-0-1 Male ITALIA DMD 1 3331 ---934-0-2 Female FRANCE Symptomatic carrier 1 3362 ---039-0-1 Male FRANCE DMD 1 3541 ---991-0-1 Male ALGERIA DMD 1 3546 ---978-0-1 Male FRANCE Pending 1
p.Ala2515LeufsX9	c.7310_7543dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 51	Fr.	Stop at 2523	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2684 ---218-2-701 Male FRANCE DMD 115 396 ---035-0-1 Male - DMD 1 1099 ---709-0-1 Male - DMD 1
p.Ser2437_Ile2554delinsPhe	c.7310_7660del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 52	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1223 ---556-1-1 Male FRANCE Pending 1
p.Pro2438ValfsX17	c.7310_7872del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 53	Fr.	Stop at 2454	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2076 ---005-1-m1 Male FRANCE DMD 114 2081 ---010-7-m1 Male FRANCE DMD 114 2554 ---512-0-921 Male FRANCE DMD 121 30 ---014-0-1 Male FRANCE DMD 1 341 ---081-0-1 Male FRANCE DMD 1 342 ---122-0-2 Female - Symptomatic carrier 5 3543 ---990-0-1 Male FRANCE DMD 1 3564 ---990-0-2 Male FRANCE Asymptomatic 1
p.Ser2437TrpfsX2	c.7310_8027del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 54	Fr.	Stop at 2438	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2134 ---081-D-21 Male FRANCE DMD 114 2216 ---206-2-m1 Male FRANCE DMD 114 2614 ---200-6-61 Male LEIBANON DMD 115 3565 ---101-0-11 Male FRANCE DMD 1
p.Ser2437X	c.7310_8217del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 55	Fr.	Stop at 2437	17
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1560 ---128-7-01 Male LEIBANON DMD 106 124 ---075-0-1 Male - DMD 119 343 ---034-1-1 Male - DMD 1 344 ---034-0-1 Male - DMD 1 346 ---015-3-1 Male - DMD 1 1648 ---065-4-41 Male FRANCE DMD 106 1649 ---065-4-51 Male FRANCE DMD 106 1818 ---027-8-01 Male FRANCE DMD 115 2788 ---745-0-1 Male - DMD 1 1113 ---015-2-1 Male - DMD 1 1114 ---015-4-1 Male - DMD 1 1115 ---015-5-1 Male - DMD 1 1116 ---015-0-1 Male - DMD 1 1117 ---015-1-1 Male - DMD 1 1178 ---075-1-1 Male - DMD 1 2944 ---745-0-1 Male - DMD 1 3011 ---281-0-1 Male FRANCE IMD 1
p.Asp2740LeufsX9	c.7310_8218dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 55	Fr.	Stop at 2748	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 44 ---495-0-1 Male - DMD 1
p.Ser2437CysfsX27	c.7310_8390del	50-51	2437	CRD-hinge region #3		Large rearrangement Deletion from exon 51 to 56	Fr.	Stop at 2463	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3471 ---185-0-1 Male FRANCE DMD 1
p.Val3029LeufsX9	c.7310_9085dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 60	Fr.	Stop at 3037	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 142 ---221-0-1 Male FRANCE DMD 1
	c.IVS50+1G>A (c.7309+1G>A)	50-51	2437			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2599 ---114-7-51 Male 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 Biological significance Geographic origin Mutation type References 3144 ---874-0-1 Male - DMD 1
	c.IVS50-1G>A (c.7310-1G>A)	50-51	2437			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2301 ---218-1-m1 Male 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 Biological significance Geographic origin Mutation type References 2867 ---169-0-1 Male 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 Biological significance Geographic origin Mutation type References 3073 ---831-0-1 Male - DMD 1
p.Pro2470ThrfsX21	c.7406dup	51	2469	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2490	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3371 ---811-0-1 Male FRANCE DMD 1 2394 ---811-0-2 Female 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 Biological significance Geographic origin Mutation type References 3110 ---851-0-1 Male FRANCE DMD 1
p.Trp2485LeufsX6	c.7453dup	51	2485	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2490	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3157 ---544-0-1 Male - DMD 10
	c.IVS51+2T>C (c.7542+2T>C)	51	2514			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 666 ---025-0-1 Male FRANCE BMD 10
p.Ala2515ValfsX15	c.7543_11055del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 79	InF	Stop at 2529	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1249 ---148-0-1 Male - DMD 1
p.Ala2515LeufsX22	c.7543_7660del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 52	Fr.	Stop at 2536	29
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2018 ---143-7-86601 Male FRANCE DMD 117 2102 ---045-5-m1 Male FRANCE DMD 114 1547 ---030-7-11 Male FRANCE DMD 112 2126 ---064-8-11 Male FRANCE DMD 114 2189 ---163-0-M1 Male FRANCE DMD 114 1839 ---049-6-61 Male FRANCE DMD 115 2321 ---054-3-81 Male FRANCE DMD 112 2433 ---037-5-71 Male FRANCE Pending 126 2463 ---047-5-81 Male FRANCE DMD 127 2500 ---194-D-781 Male FRANCE DMD 121 2679 ---537-6-31 Male FRANCE DMD 106 24 ---503-0-1 Male FRANCE DMD 1 125 ---389-0-1 Male FRANCE DMD 1 348 ---043-0-1 Male FRANCE DMD 1 349 ---073-0-1 Male - DMD 1 350 ---075-0-1 Male FRANCE DMD 1 351 ---109-0-1 Male FRANCE DMD 1 352 ---120-0-1 Male - DMD 1 353 ---172-0-1 Male - DMD 1 1665 ---074-5-41 Male FRANCE DMD 106 1739 ---253-9-4771 Male FRANCE DMD 116 735 ---607-0-2 Female FRANCE Symptomatic carrier 1 755 ---612-0-1 Male FRANCE DMD 1 1036 ---549-0-1 Male - DMD 1 1386 ---650-0-1 Male - DMD 1 3208 ---061-0-1 Male - DMD 1 3276 ---389-0-2 Female FRANCE Symptomatic carrier 1 3363 ---943-0-1 Male FRANCE DMD 1 2905 ---102-2-11 Male FRANCE DMD 1
p.Ile2554SerfsX33	c.7543_7661dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 52	Fr.	Stop at 2586	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2367 ---061-2-m1 Male FRANCE DMD 114 2371 ---098-F-81 Male FRANCE DMD 114 1258 ---299-0-1 Male - DMD 1 2998 ---014-0-1 Male - DMD 1 3324 ---951-0-1 Male FRANCE DMD 1 3372 ---066-0-1 Male FRANCE DMD 1
p.Ala2515GlyfsX3	c.7543_8027del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 54	Fr.	Stop at 2517	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2059 ---070-0-41 Male FRANCE DMD 122 2543 ---454-2-11 Male FRANCE DMD 106 2764 ---527-5-41 Male FRANCE DMD 106 355 ---040-0-1 Male - DMD 1 3177 ---701-0-1 Male - DMD 1
p.Val2677GlnfsX23	c.7543_8028dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 54	Fr.	Stop at 2699	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1625 ---271-6-61 Male FRANCE DMD 106 696 ---537-0-1 Male - DMD 1
p.Ala2515_Gln2739del	c.7543_8217del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 55	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1781 ---433-0-891 Male FRANCE BMD 116
p.Lys2514_Ala2515ins465AA	c.7543_8938dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 59		In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3399 ---559-0-1 Male FRANCE BMD 1
p.Thr3055SerfsX33	c.7543_9164dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 61	Fr.	Stop at 3087	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 143 ---411-0-1 Male FRANCE DMD 1
p.Ala2515ProfsX22	c.7543_9224del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 62	Fr.	Stop at 2536	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 36 ---446-0-1 Male - DMD 1
p.Asn3075LysfsX24	c.7543_9225dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 62	Fr.	Stop at 3098	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1624 ---267-5-21 Male FRANCE DMD 106
p.Ala2515LeufsX3	c.7543_9286del	52	2515	CRD-repeat #20		Large rearrangement Deletion from exon 52 to 63	Fr.	Stop at 2517	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1767 ---154-3-0081 Male FRANCE DMD 116
p.Gln2522X	c.7564C>T	52	2522	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1431 ---110-6-61 Male FRANCE DMD 105
p.Arg2553X	c.7657C>T	52	2553	CRD-repeat #20		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2586 ---033-3-m2 Female FRANCE Symptomatic carrier 114 2281 ---160-9-m1 Male FRANCE DMD 114 1611 ---284-5-61 Male FRANCE DMD 106 2991 ---737-0-1 Male SPAIN DMD 1 1643 ---463-0-1 Male FRANCE DMD 10 3266 ---050-0-1 Male FRANCE DMD 1
p.Ile2554SerfsX27	c.7661_11055del	52-53	2554	CRD-repeat #20		Large rearrangement Deletion from exon 53 to 79	Fr.	Stop at 2580	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3233 ---545-0-1 Male FRANCE DMD 1
p.Ile2554ThrfsX18	c.7661_7872del	52-53	2554	CRD-repeat #20		Large rearrangement Deletion from exon 53 to 53	Fr.	Stop at 2571	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1457 ---319-7-31 Male FRANCE DMD 106 1482 ---294-6-51 Male FRANCE DMD 106 1561 ---260-4-31 Male FRANCE DMD 100 1568 ---170-0-01 Male French DMD 100 2496 ---408-2-71 Male FRANCE DMD 106 2560 ---165-6-0241 Male FRANCE DMD 121 2682 ---214-2-021 Male FRANCE DMD 115 126 ---239-0-1 Male - DMD 1 146 ---441-0-1 Male - DMD 1 3081 ---793-0-1 Male - DMD 1 3574 ---993-1- Male FRANCE Pending 1
p.Gln2625LeufsX22	c.7661_7873dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 53	Fr.	Stop at 2646	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2377 ---236-1-m1 Male FRANCE DMD 114 2519 ---153-7-BY481 Male FRANCE DMD 121
p.Ile2554ArgfsX2	c.7661_8027del	52-53	2554	CRD-repeat #20		Large rearrangement Deletion from exon 53 to 54	Fr.	Stop at 2555	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1907 ---033-0-71 Male - DMD 113 1929 ---219-2-61 Male FRANCE DMD 106 356 ---057-0-1 Male - DMD 1 357 ---086-0-1 Male - DMD 119 358 ---086-1-1 Male - DMD 1 2814 ---699-0-1 Male - DMD 1 2970 ---699-0-1 Male - DMD 1 3420 ---943-0-1 Male FRANCE DMD 1
p.Arg2676SerfsX2	c.7661_8028dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 54	Fr.	Stop at 2677	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1602 ---251-4-11 Male FRANCE DMD 100
p.Ile2554ArgfsX5	c.7661_8217del	52-53	2554	CRD-repeat #20		Large rearrangement Deletion from exon 53 to 55	Fr.	Stop at 2558	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2046 ---040-0-91 Male FRANCE DMD 122 2135 ---082-8-m1 Male FRANCE DMD 114 2223 ---215-9-A1 Male FRANCE DMD 114 2318 ---050-6-51 Male FRANCE DMD 112 2689 ---229-3-581 Male FRANCE DMD 115 2770 ---529-5-91 Male FRANCE DMD 106 12 ---239-0-1 Male - DMD 1 1690 ---678-0-831 Male FRANCE DMD 116 2819 ---750-0-1 Male - DMD 1 2823 ---751-0-1 Male - DMD 1 2975 ---750-0-1 Male - DMD 1 2979 ---751-0-1 Male - DMD 1 3056 ---585-0-2 Female FRANCE Symptomatic carrier 1 3365 ---097-0-1 Male FRANCE DMD 1 3533 ---691-0-1 Male FRANCE DMD 1
p.Asp2740LeufsX22	c.7661_8218dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 55	Fr.	Stop at 2761	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2611 ---330-7-11 Male FRANCE DMD 106 3010 ---066-0-2 Female FRANCE Symptomatic carrier 1 2858 ---032-0-2 Female FRANCE Symptomatic carrier 1 2938 ---032-1-1 Male FRANCE Asymptomatic 1
p.Val3029LeufsX22	c.7661_9085dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 60	Fr.	Stop at 3050	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2906 ---188-0-1 Male FRANCE DMD 1
p.Ile2557PhefsX19	c.7669delA	53	2557	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2575	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 718 ---120-0-1 Male - DMD 10 3250 ---120-1-1 Male FRANCE DMD 1
p.Leu2579X	c.7736T>A	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1483 ---297-6-31 Male BELGIUM DMD 106
p.Lys2580ArgfsX17	c.7739delA	53	2580	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2811 ---756-0-1 Male FRANCE DMD 10 2967 ---756-0-1 Male 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 Biological significance Geographic origin Mutation type References 648 ---139-0-1 Male FRANCE DMD 10
p.Pro2610SerfsX33	c.7826dup	53	2609	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2537 ---395-0-01 Male FRANCE DMD 106
p.Tyr2611LeufsX3	c.7832delA	53	2611	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2613	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3163 ---712-0-1 Male FRANCE DMD 1
p.Ile2620AsnfsX23	c.7858dup	53	2620	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2642	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 685 ---511-0-1 Male FRANCE DMD 10
p.Gln2625SerfsX13	c.7873delC	54	2625	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2637	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3021 ---143-0-1 Male - DMD 1 3023 ---143-1-1 Male - DMD 1 3024 ---143-0-2 Female - Pending 1
p.Gln2625GlyfsX3	c.7873_8027del	54	2625	CRD-repeat #21		Large rearrangement Deletion from exon 54 to 54	Fr.	Stop at 2627	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 127 ---054-0-1 Male - DMD 1 359 ---068-0-1 Male - DMD 1
p.Lys2624_Gln2625ins115AA	c.7873_8218dup	54	2625	CRD-repeat #21		Large rearrangement Duplication from exon 54 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 398 ---135-0-1 Male - DMD 1
p.Lys2624_Gln2625ins355AA	c.7873_8938dup	54	2625	CRD-repeat #21		Large rearrangement Duplication from exon 54 to 59	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2372 ---108-3-m1 Male FRANCE DMD 114
p.Trp2670X	c.8009G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3302 ---097-0-1 Male FRANCE DMD 1
p.Val2677StopfsX4	c.8028_11055del	54-55	2676	CRD-repeat #21		Large rearrangement Deletion from exon 55 to 79	Fr.	Stop at 2680	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3313 ---878-0-1 Male FRANCE DMD 1
p.Val2677ThrfsX24	c.8028_8217del	54-55	2676	CRD-repeat #21		Large rearrangement Deletion from exon 55 to 55	Fr.	Stop at 2700	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2349 ---397-0-61 Male FRANCE DMD 106 15 ---480-0-1 Male FRANCE DMD 1 128 ---146-0-1 Male FRANCE DMD 1 129 ---162-0-1 Male - DMD 1 360 ---328-0-1 Male - DMD 1 1795 ---173-6-2251 Male FRANCE DMD 119 1059 ---705-0-1 Male - DMD 1 2434 ---146-1-1 Male FRANCE DMD 1
p.Asp2740GlyfsX3	c.8028_8218dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 55		Stop at 2742	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3236 ---228-0-1 Male FRANCE DMD 1
p.Ala2980GlyfsX3	c.8028_8938dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 59	Fr.	Stop at 2982	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 144 ---141-0-1 Male - DMD 1
p.Val3029GlyfsX3	c.8028_9085dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 60	Fr.	Stop at 3031	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 399 ---098-0-1 Male - DMD 1
p.Arg2676SerfsX43	c.8028_9163del	54-55	2676	CRD-repeat #21		Large rearrangement Deletion from exon 55 to 61	Fr.	Stop at 2718	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 361 ---298-0-1 Male - DMD 1
	c.IVS54+1G>A (c.8027+1G>A)	54-55	2676			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1478 ---288-6-51 Male FRANCE DMD 106
p.Arg2680X	c.8038C>T	55	2680	CRD-repeat #21		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1432 ---272-5-61 Male AUSTRALIA DMD 100 1031 ---521-0-1 Male FRANCE DMD 10
p.Glu2686LysfsX40	c.8055delA	55	2685	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3547 ---137-0-1 Male FRANCE DMD 1
p.Gln2692X	c.8074C>T	55	2692	CRD-repeat #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2539 ---413-2-61 Male FRANCE DMD 106
p.Leu2696ArgfsX30	c.8087delT	55	2696	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2453 ---404-0-91 Male FRANCE DMD 106
p.Glu2726X	c.8176G>T	55	2726	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1433 ---147-9-31 Male FRANCE DMD 105
p.Trp2738X	c.8214G>A	55	2738	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1612 ---285-6-81 Male FRANCE Pending 106
p.Asp2740ArgfsX5	c.8217dup	56	2740	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2744	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2354 ---365-8-71 Male FRANCE DMD 106
p.Asp2740ValfsX16	c.8218_10921del	56	2740	CRD-repeat #22		Large rearrangement Deletion from exon 56 to 76	Fr.	Stop at 2755	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1777 ---204-7-3221 Male FRANCE DMD 119
p.Asp2740ValfsX8	c.8218_8390del	56	2740	CRD-repeat #22		Large rearrangement Deletion from exon 56 to 56	Fr.	Stop at 2747	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1706 ---174-0-5011 Male FRANCE IMD 116 1791 ---174-0-2141 Male FRANCE Pending 116 3326 ---704-0-2 Female SPAIN Symptomatic carrier 1
p.Gln2739_Asp2740ins289AA	c.8218_9085dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 60	Fr.	In frame ins	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1756 ---161-5-0071 Male FRANCE Pending 116
p.Thr3055ArgfsX5	c.8218_9164dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 61	Fr.	Stop at 3059	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2094 ---022-8-m1 Male FRANCE DMD 114
p.Asn3075LysfsX25	c.8218_9225dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 62		Stop at 3099	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2557 ---168-6-0461 Male FRANCE DMD 121 400 ---031-0-1 Male - DMD 1 401 ---043-0-1 Male FRANCE DMD 1 402 ---178-0-1 Male FRANCE DMD 1 3360 ---165-0-1 Male FRANCE DMD 1 2606 ---437-0-1 Male FRANCE DMD 1 3588 ---043-1-1 Male FRANCE DMD 1 3589 ---043-2-1 Male FRANCE DMD 1
	c.IVS55-2A>G (c.8218-2A>G)	56	2740			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3134 ---858-0-1 Male 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 Biological significance Geographic origin Mutation type References 2265 ---120-2-MA1 Male 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 Biological significance Geographic origin Mutation type References 1464 ---270-5-91 Male FRANCE DMD 100
p.Trp2807X	c.8420G>A	57	2807	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 689 ---593-0-1 Male FRANCE DMD 10
p.Ala2850SerfsX29	c.8548_8668del	58	2850	CRD-repeat #23		Large rearrangement Deletion from exon 58 to 58	Fr.	Stop at 2878	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3229 ---702-0-1 Male FRANCE DMD 1
p.Ala2850ArgfsX34	c.8548_9163del	58	2850	CRD-repeat #23		Large rearrangement Deletion from exon 58 to 61	Fr.	Stop at 2883	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3230 ---608-0-1 Male FRANCE DMD 1 3231 ---608-1-1 Male FRANCE DMD 1
p.Asn3075LysfsX7	c.8548_9225dup	58	2850	CRD-repeat #23		Large rearrangement Duplication from exon 58 to 62	Fr.	Stop at 3081	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1958 ---038-2-31 Male FRANCE DMD 106 1959 ---038-2-21 Male FRANCE DMD 106 1960 ---038-2-41 Male FRANCE DMD 106
p.Val2869ThrfsX25	c.8605_8606delGT	58	2869	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2893	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2283 ---167-6-m1 Male FRANCE DMD 114
p.Arg2870X	c.8608C>T	58	2870	CRD-repeat #23		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2300 ---217-2-A1 Male FRANCE DMD 114 2745 ---100-8-81 Male FRANCE DMD 112 2746 ---100-0-21 Male FRANCE DMD 112 3162 ---048-0-1 Male FRANCE DMD 1 2852 ---176-0-1 Male 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 Biological significance Geographic origin Mutation type References 3568 ---100-4-11 Male FRANCE DMD 1
p.Gln2898X	c.8692C>T	59	2898	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3029 ---736-0-2 Female - Symptomatic carrier 1
p.Arg2905X	c.8713C>T	59	2905	CRD-repeat #23		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2584 ---106-3-m2 Female FRANCE Symptomatic carrier 114 2260 ---089-7-m1 Male FRANCE DMD 114
p.Gln2907X	c.8719C>T	59	2907	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2872 ---057-0-1 Male FRANCE IMD 1
p.Glu2910X	c.8728G>T	59	2910	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3018 ---111-0-1 Male - DMD 10
p.Asn2919ThrfsX11	c.8754delG	59	2918	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2929	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1462 ---102-6-01 Male 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 Biological significance Geographic origin Mutation type References 1463 ---235-3-31 Male FRANCE DMD 103
p.Gln2937X	c.8809C>T	59	2937	CRD-repeat #24		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3421 ---956-0-1 Male ISRAEL DMD 1
p.Lys2949SerfsX7	c.8844delC	59	2948	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2955	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3461 ---046-0-1 Male FRANCE DMD 1 3462 ---046-1-01 Male FRANCE DMD 1 3463 ---046-0-2 Female 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 Biological significance Geographic origin Mutation type References 2240 ---034-5-m1 Male FRANCE DMD 114 2241 ---034-5-m1 Male 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 Biological significance Geographic origin Mutation type References 2352 ---378-9-41 Male FRANCE DMD 106
p.Gln2972X	c.8914C>T	59	2972	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1434 ---089-6-51 Male FRANCE DMD 102 2540 ---393-9-41 Male FRANCE Pending 106
p.His2974ThrfsX15	c.8920delC	59	2974	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2988	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3065 ---827-0-1 Male FRANCE DMD 1
p.Ala2980_Met3685del	c.8938_11055del	60	2980	CRD-repeat #24		Large rearrangement Deletion from exon 60 to 79	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2634 ---007-0-71 Male FRANCE DMD 128
p.Thr3055SerfsX18	c.8938_9164dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 61		Stop at 3072	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3427 ---061-0-1 Male FRANCE DMD 1
p.Asn3075LysfsX10	c.8938_9225dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 62	Fr.	Stop at 3084	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1761 ---260-2-5221 Male FRANCE DMD 116 1762 ---260-2-5231 Male FRANCE DMD 116 3080 ---764-0-1 Male FRANCE DMD 1
p.Ala2980LeufsX3	c.8938_9286del	60	2980	CRD-repeat #24		Large rearrangement Deletion from exon 60 to 63	Fr.	Stop at 2982	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 131 ---233-0-1 Male - DMD 1
p.Tyr3217CysfsX18	c.8938_9650dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 66	Fr.	Stop at 3234	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3563 ---764-0-1 Male FRANCE DMD 1
p.Arg2982X	c.8944C>T	60	2982	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2613 ---489-4-31 Male FRANCE DMD 106 960 ---633-0-1 Male FRANCE DMD 10
p.Val3029_Pro3362del	c.9085_10086del	61	3029	CRD-repeat #24		Large rearrangement Deletion from exon 61 to 69	InF	In frame del	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1703 ---214-4-3581 Male FRANCE DMD 116 3538 ---010-0-1 Male FRANCE DMD 1 3539 ---010-1-1 Male FRANCE DMD 1
p.Val3029_Met3685del	c.9085_11055del	61	3029	CRD-repeat #24		Large rearrangement Deletion from exon 61 to 79	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2681 ---214-2-021 Male FRANCE DMD 115
p.Val3029ArgfsX34	c.9085_9163del	61	3029	CRD-repeat #24		Large rearrangement Deletion from exon 61 to 61	Fr.	Stop at 3062	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1569 ---173-0-61 Male FRANCE DMD 100 2234 ---232-4-MA1 Male LEIBANON DMD 114 2389 ---155-9-81 Male FRANCE DMD 100 363 ---195-0-1 Male - DMD 1 3577 ---290-0-1 Male FRANCE DMD 1
p.Val3029ProfsX22	c.9085_9224del	61	3029	CRD-repeat #24		Large rearrangement Deletion from exon 61 to 62	Fr.	Stop at 3050	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3062 ---708-0-1 Male FRANCE DMD 1
p.Val3029_Phe3269del	c.9085_9807del	61	3029	CRD-repeat #24		Large rearrangement Deletion from exon 61 to 67	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1608 ---281-5-01 Male FRANCE DMD 106
	c.IVS60-15519G>T (c.9085-15519G>T)	61	3029			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 759 ---160-0-1 Male FRANCE IMD 4 894 ---160-1-1 Male FRANCE DMD 4 2878 ---160-2-1 Male FRANCE Pending 1
	c.IVS60-1G>A (c.9085-1G>A)	61	3029			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2536 ---449-2-11 Male 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 Biological significance Geographic origin Mutation type References 3109 ---817-0-1 Male 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 Biological significance Geographic origin Mutation type References 2608 ---295-6-72 Female 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 Biological significance Geographic origin Mutation type References 1435 ---273-6-21 Male 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 Biological significance Geographic origin Mutation type References 2336 ---112-4-1091 Male FRANCE DMD 116
p.Ser3056ThrfsX13	c.9164_9224del	61-62	3055	CRD-hinge region #4		Large rearrangement Deletion from exon 62 to 62	Fr.	Stop at 3068	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 27 ---429-0-1 Male - DMD 1 1241 ---429-1-1 Male - DMD 1
p.His3076ValfsX42	c.9164_9225dup	61-62	3055	CRD-hinge region #4		Large rearrangement Duplication from exon 62 to 62	Fr.	Stop at 3117	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2220 ---212-6-m1 Male FRANCE DMD 114
p.Asn3068LysfsX20	c.9204_9207delCAAA	62	3068	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3087	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3059 ---159-0-1 Male - DMD 1 3066 ---068-0-1 Male - DMD 1 3111 ---853-0-1 Male 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 Biological significance Geographic origin Mutation type References 3086 ---147-0-1 Male FRANCE DMD 1
p.	c.9225_11055del	62-63	3075	CRD-hinge region #4		Large rearrangement Deletion from exon 63 to 79	Fr.	Stop at 3099	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1927 ---344-8-11 Male FRANCE DMD 106
p.	c.9225_11056dup	62-63	3075	CRD-hinge region #4		Large rearrangement Duplication from exon 63 to 79	Fr.	Stop at 3707	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2589 ---108-3-m1 Male FRANCE DMD 114
p.His3076X	c.9225_9286del	62-63	3075	CRD-hinge region #4		Large rearrangement Deletion from exon 63 to 63	Fr.	Stop at 3076	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2373 ---063-0-1 Male FRANCE DMD 1
p.His3076GlyfsX10	c.9225_9361del	62-63	3075	CRD-hinge region #4		Large rearrangement Deletion from exon 63 to 64	Fr.	Stop at 3085	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1911 ---048-6-m181 Male - DMD 113
p.Ala3270ProfsX22	c.9225_9808dup	62-63	3075	CRD-hinge region #4		Large rearrangement Duplication from exon 63 to 67	Fr.	Stop at 3291	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3555 ---986-0-1 Male 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 Biological significance Geographic origin Mutation type References 2262 ---097-C-71 Male FRANCE DMD 114 3074 ---055-0-1 Male - DMD 10
	c.IVS62+5G>C (c.9224+5G>C)	62-63	3075			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2124 ---292-6-91 Male - DMD 106
	c.IVS62-160A>G (c.9225-160A>G)	62-63	3075			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3089 ---594-0-1 Male FRANCE BMD 1
	c.IVS62-1G>A (c.9225-1G>A)	62-63	3075			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 694 ---146-0-1 Male - DMD 10
	c.IVS62-285A>G (c.9225-285A>G)	62-63	3075			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1651 ---067-4-61 Male FRANCE BMD 104
	c.IVS62-647A>G (c.9225-647A>G)	62-63	3075			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1088 ---553-0-1 Male FRANCE DMD 4
p.Ala3096_Leu3121delinsVal	c.9287_9361del	63-64	3096	CRD-hinge region #4		Large rearrangement Deletion from exon 64 to 64	InF	In frame del	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1555 ---118-3-11 Male FRANCE DMD 100
	c.IVS63+2T>A (c.9286+2T>A)	63-64	3096			Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2253 ---075-7-m1 Male FRANCE DMD 114
	c.9316_9318delinsA	64	3106	CRD-hinge region #4		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2767 ---522-5-41 Male 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 Biological significance Geographic origin Mutation type References 693 ---347-0-1 Male 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 Biological significance Geographic origin Mutation type References 3106 ---806-0-1 Male - DMD 1
p.Lys3111AsnfsX14	c.9333delA	64	3111	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3124	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2299 ---209-6-m1 Male FRANCE DMD 114
p.Arg3113X	c.9337C>T	64	3113	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 695 ---229-0-1 Male ARGENTINA DMD 1 3013 ---242-0-1 Male - DMD 10
p.Gln3116X	c.9346C>T	64	3116	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2751 ---106-0-61 Male FRANCE DMD 112 2752 ---106-0-71 Male FRANCE DMD 112
p.Leu3121TrpfsX95	c.9362_9563del	64-65	3121	Cystein-rich domain		Large rearrangement Deletion from exon 65 to 65	Fr.	Stop at 3215	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 365 ---014-0-1 Male - DMD 1
	c.IVS64+5G>C (c.9361+5G>C)	64-65	3121			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3454 ---966-0-1 Male 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 Biological significance Geographic origin Mutation type References 2304 ---226-2-m1 Male FRANCE Pending 114
p.Gln3135X	c.9403C>T	65	3135	Cystein-rich domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3027 ---319-0-1 Male FRANCE DMD 1 3058 ---319-2-1 Male FRANCE DMD 1 3251 ---319-1-1 Male FRANCE DMD 1
p.Gln3149X	c.9445C>T	65	3149	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1436 ---181-0-52 Female FRANCE DMD 100 1437 ---181-1-71 Male 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 Biological significance Geographic origin Mutation type References 2296 ---196-9-A1 Male FRANCE Pending 114
p.Gly3189LeufsX13	c.9564_9807del	65-66	3188	Cystein-rich domain		Large rearrangement Deletion from exon 66 to 67	Fr.	Stop at 3201	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2206 ---193-E-21 Male FRANCE DMD 114
	c.IVS65+1215A>G (c.9563+1215A>G)	65-66	3188			Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3036 ---191-0-1 Male FRANCE DMD 10 3140 ---275-0-1 Male FRANCE DMD 1
	c.IVS65+1G>A (c.9563+1G>A)	65-66	3188			Small rearrangement	Ts	G->A	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1515 ---144-8-71 Male FRANCE DMD 105 2380 ---366-8-01 Male FRANCE DMD 106 2535 ---411-0-01 Male FRANCE DMD 106 2625 ---446-2-01 Male FRANCE DMD 106 2243 ---040-4-m1 Male 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 Biological significance Geographic origin Mutation type References 3265 ---054-0-1 Male 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 Biological significance Geographic origin Mutation type References 1605 ---255-4-51 Male FRANCE DMD 100
p.Arg3190X	c.9568C>T	66	3190	Cystein-rich domain		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1438 ---103-6-31 Male FRANCE DMD 103 1439 ---093-6-01 Male FRANCE DMD 100 1505 ---029-1-61 Male FRANCE DMD 111 2286 ---176-9-MA1 Male FRANCE DMD 114 2287 ---176-1-MA1 Male FRANCE DMD 114 1702 ---151-1-1621 Male FRANCE DMD 116 1708 ---223-6-5501 Male FRANCE DMD 116 1709 ---223-6-4591 Male FRANCE DMD 120 1744 ---216-9-3671 Male FRANCE DMD 120 705 ---446-0-1 Male FRANCE DMD 10 858 ---494-0-1 Male FRANCE DMD 10 3247 ---919-0-1 Male FRANCE DMD 1 3370 ---220-0-1 Male 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 Biological significance Geographic origin Mutation type References 1509 ---020-2-11 Male FRANCE DMD 111
p.Tyr3217CysfsX2	c.9650_9807del	66-67	3217	Cystein-rich domain		Large rearrangement Deletion from exon 67 to 67	Fr.	Stop at 3218	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3561 ---973-0-1 Male SPAIN DMD 1
p.Tyr3217X	c.9651C>A	66-67	3217	Cystein-rich domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3130 ---662-0-2 Female 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 Biological significance Geographic origin Mutation type References 1750 ---225-0-4191 Male FRANCE DMD 120 649 ---094-0-1 Male - DMD 10 668 ---420-0-1 Male - DMD 10 669 ---420-1-1 Male - DMD 1
	c.IVS66-3del7a (c.9650-3del7a)	66-67	3217			Small rearrangement	Tv	del7a	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 857 ---136-0-1 Male FRANCE BMD 10
p.Val3222TrpfsX61	c.9663delA	67	3221	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1727 ---748-0-1 Male FRANCE DMD 10
p.Ser3225GlnfsX58	c.9673delT	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1784 ---C13-0-7111 Male FRANCE DMD 116
p.Ser3225ValfsX6	c.9673insG	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3230	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2636 ---495-4-61 Male FRANCE DMD 106
p.Gln3231X	c.9691C>T	67	3231	Cystein-rich domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3025 ---624-0-1 Male - DMD 10
p.Ser3262CysfsX9	c.9783_9784delAA	67	3261	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3270	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1715 ---278-2-5361 Male FRANCE DMD 116
	c.IVS67+4del1 (c.9807+4del1)	67	3269			Small rearrangement	Tv	del1	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1563 ---160-9-21 Male FRANCE DMD 100
	c.IVS67+5G>A (c.9807+5G>A)	67	3269			Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2869 ---101-1-11 Male 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 Biological significance Geographic origin Mutation type References 2282 ---165-D-91 Male FRANCE DMD 114
p.Ala3270ValfsX16	c.9808_10921del	68	3270	Cystein-rich domain		Large rearrangement Deletion from exon 68 to 76	Fr.	Stop at 3285	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2671 ---892-0-951 Male FRANCE DMD 116
p.Ala3278GlyfsX37	c.9832dup	68	3278	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3314	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2592 ---182-5-m2 Female 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 Biological significance Geographic origin Mutation type References 3414 ---954-0-1 Male FRANCE DMD 1 3415 ---954-0-2 Female 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 Biological significance Geographic origin Mutation type References 2376 ---235-8-m1 Male FRANCE Pending 114 3453 ---364-0-1 Male FRANCE DMD 1
p.Pro3320GlnfsX10	c.9959delC	68	3320	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3329	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1737 ---275-4-5211 Male FRANCE DMD 116 1738 ---275-4-5491 Male 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 Biological significance Geographic origin Mutation type References 3019 ---789-0-1 Male - DMD 10 3020 ---789-1-1 Male - DMD 1
p.Phe3332Cys	c.9995T>G	69	3332	Carboxy-terminal region		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2604 ---264-6-01 Male FRANCE DMD 106 2605 ---264-6-01 Male FRANCE DMD 106
p.Asp3335Tyr	c.10003G>T	69	3335	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1672 ---268-8-61 Male FRANCE DMD 106
p.Cys3340Arg	c.10018T>C	69	3340	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1607 ---264-6-01 Male FRANCE DMD 106
p.Ser3343LeufsX34	c.10027delT	69	3343	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2332 ---C20-8-7311 Male FRANCE DMD 116
p.Arg3345X	c.10033C>T	69	3345	Carboxy-terminal region		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1758 ---219-4-3791 Male FRANCE DMD 120 652 ---289-0-1 Male FRANCE DMD 10
	c.IVS69+1G>T (c.10086+1G>T)	69	3362			Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2664 ---084-5-82 Female FRANCE Symptomatic carrier 106 1661 ---084-5-81 Male FRANCE DMD 101 690 ---101-0-1 Male - DMD 10
	c.IVS69+5G>C (c.10086+5G>C)	69	3362			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1641 ---080-5-01 Male FRANCE DMD 103
	c.IVS69-2A>T (c.10087-2A>T)	70	3363			Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1458 ---311-7-51 Male FRANCE DMD 106
p.Asp3368His	c.10102G>C	70	3368	Carboxy-terminal region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 658 ---462-0-1 Male - BMD 10
p.Arg3370X	c.10108C>T	70	3370	Carboxy-terminal region		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1440 ---191-1-71 Male FRANCE DMD 100 2602 ---191-1-82 Female FRANCE Symptomatic carrier 106 2655 ---445-4-41 Male FRANCE DMD 106 657 ---346-0-1 Male FRANCE DMD 10 3155 ---045-1-1 Male FRANCE DMD 1 3204 ---895-0-2 Female FRANCE Symptomatic carrier 1 2419 ---045-0-1 Male FRANCE DMD 1
p.Leu3376X	c.10126delC	70	3376	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1460 ---085-5-21 Male FRANCE DMD 101 2598 ---085-2-12 Female FRANCE Symptomatic carrier 106 3009 ---691-0-1 Male - DMD 10
p.Lys3379X	c.10135A>T	70	3379	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3016 ---574-0-1 Male - DMD 10
p.Arg3381X	c.10141C>T	70	3381	Carboxy-terminal region		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1441 ---100-6-61 Male FRANCE DMD 105 2348 ---400-0-71 Male FRANCE DMD 106 2640 ---379-1-81 Male FRANCE DMD 106 2670 ---734-0-651 Male FRANCE DMD 116 1751 ---204-7-4531 Male FRANCE DMD 116 1755 ---204-7-3171 Male FRANCE DMD 119 3135 ---489-0-1 Male FRANCE DMD 1 3316 ---946-0-1 Male FRANCE DMD 1 3317 ---946-0-2 Female FRANCE Symptomatic carrier 1 2880 ---101-8-11 Male FRANCE DMD 1
p.Arg3391X	c.10171C>T	70	3391	Carboxy-terminal region		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1442 ---115-7-61 Male FRANCE DMD 100 1443 ---205-4-71 Male FRANCE DMD 100 1444 ---174-2-91 Male FRANCE DMD 100 2263 ---107-5-m1 Male FRANCE DMD 114 1698 ---233-5-4341 Male FRANCE DMD 120 653 ---095-0-1 Male - DMD 10 654 ---099-0-1 Male FRANCE DMD 10 655 ---099-1-1 Male FRANCE DMD 1 656 ---099-2-1 Male FRANCE DMD 1 2791 ---521-0-1 Male FRANCE DMD 10 2947 ---521-0-1 Male FRANCE DMD 10 3164 ---131-0-1 Male FRANCE DMD 1
p.Glu3402ArgfsX11	c.10203delA	70	3401	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3412	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1461 ---274-5-61 Male 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 Biological significance Geographic origin Mutation type References 1570 ---175-0-11 Male FRANCE DMD 100 2280 ---154-5-m1 Male FRANCE DMD 114 1712 ---C15-5-6991 Male FRANCE DMD 116 667 ---424-0-1 Male - DMD 10 1085 ---151-0-1 Male - DMD 10 3001 ---406-0-1 Male FRANCE DMD 10 3220 ---406-1-1 Male FRANCE DMD 1
	c.IVS70+2insT (c.10223+2insT)	70-71	3408			Small rearrangement	Tv	insT	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2272 ---145-7-m1 Male FRANCE DMD 114 2661 ---514-5-61 Male 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 Biological significance Geographic origin Mutation type References 2302 ---221-7-m1 Male FRANCE DMD 114 660 ---380-0-1 Male - DMD 10
	c.IVS70+5G>A (c.10223+5G>A)	70-71	3408			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2570 ---205-8-3391 Male FRANCE DMD 116 3131 ---475-0-1 Male 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 Biological significance Geographic origin Mutation type References 3014 ---193-0-1 Male FRANCE BMD 1 3377 ---193-1-1 Male FRANCE BMD 1 3378 ---193-2-1 Male FRANCE BMD 1
p.Thr3411AsnfsX22	c.10231dup	71	3411	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3432	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3033 ---653-0-1 Male FRANCE BMD 1
p.Gln3427X	c.10279C>T	72	3427	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 680 ---429-0-1 Male - BMD 1
p.Tyr3454X	c.10362T>A	73	3454	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1770 ---662-0-1 Male - BMD 1
p.Glu3463X	c.10387G>T	73	3463	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2271 ---144-4-MA1 Male FRANCE Pending 114
p.Leu3471X	c.10412T>A	74	3471	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1580 ---193-1-71 Male FRANCE BMD 124
p.Leu3485X	c.10453delC	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3485	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2264 ---112-A-11 Male FRANCE Pending 114
p.Leu3485ProfsX6	c.10453dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2338 ---C69-0-981 Male FRANCE Pending 116 1078 ---684-0-1 Male - BMD 1
p.Leu3485GlufsX5	c.10453_10454delCT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3489	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3417 ---085-0-1 Male FRANCE DMD 1
p.Leu3485ArgfsX11	c.10454delT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3495	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3388 ---961-0-1 Male FRANCE DMD 1
p.Ser3486GlufsX5	c.10454dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3528 ---991-0-1 Male 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 Biological significance Geographic origin Mutation type References 2266 ---124-0-21 Male FRANCE BMD 114 1399 ---103-0-1 Male - BMD 1
p.Asn3519X	c.10554_10921del	74-75	3518	Carboxy-terminal region		Large rearrangement Deletion from exon 75 to 76	Fr.	Stop at 3519	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 412 ---220-0-1 Male - BMD 1
	c.IVS74-18C>G (c.10554-18C>G)	74-75	3518			Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3117 ---743-0-1 Male FRANCE BMD 1
	c.IVS74-2A>G (c.10554-2A>G)	74-75	3518			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1511 ---133-8-01 Male FRANCE BMD 105
p.Tyr3524X	c.10572T>A	75	3524	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1670 ---245-4-21 Male FRANCE DMD 106
p.Gly3535ArgfsX10	c.10602dup	75	3535	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3544	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2254 ---076-0-m1 Male 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 Biological significance Geographic origin Mutation type References 3217 ---701-0-1 Male FRANCE DMD 1 3218 ---701-1-1 Male FRANCE DMD 1 3219 ---701-2-1 Male FRANCE DMD 1
p.Arg3575GlyfsX19	c.10722delC	75	3574	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3593	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 659 ---285-0-1 Male FRANCE DMD 10 2871 ---285-1-1 Male FRANCE DMD 1
p.Gln3589X	c.10765C>T	75	3589	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1637 ---350-8-71 Male FRANCE Pending 106
p.Ser3637X	c.10910C>A	76	3637	Carboxy-terminal region		Small rearrangement	Tv	C->A	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2350 ---387-9-11 Male FRANCE BMD 106 2351 ---387-1-71 Male FRANCE BMD 106 1000 ---665-0-1 Male FRANCE DMD 1 1094 ---665-1-1 Male FRANCE DMD 1