The UMD-DMD France mutations database
Large lesions (2235 records)

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 Mutation status Geographic origin Phenotypic group References 366 ---064-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1592 ---224-2-61 Male Hemizygous FRANCE DMD 106 2476 ---036-4-91 Male Hemizygous FRANCE DMD 127 727 ---020-0-1 Male Hemizygous - DMD 3 2863 ---144-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3587 ---707-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1987 ---101-7-0211 Male Hemizygous FRANCE BMD 121 1594 ---226-2-31 Male Hemizygous FRANCE DMD 106 2430 ---034-5-91 Male Hemizygous FRANCE Pending 126 703 ---571-0-1 Male Hemizygous - DMD 1 3209 ---048-0-1 Male Hemizygous - DMD 12 3210 ---048-0- Female Heterozygous - Symptomatic carrier 12 3301 ---565-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3506 ---065-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2529 ---081-7-31 Male Hemizygous FRANCE Pending 126 1820 ---029-2-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3307 ---017-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1863 ---074-9-61 Male Hemizygous FRANCE DMD 115 1909 ---046-5-m071 Male Hemizygous - BMD 113 2562 ---734-0-071 Male Hemizygous FRANCE DMD 121 3380 ---049-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3308 ---100-0-1 Male Hemizygous FRANCE DMD 1 2860 ---901-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1484 ---018-3-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2415 ---019-1-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3472 ---053-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1558 ---126-7-91 Male Hemizygous FRANCE BMD 106
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 Mutation status Geographic origin Phenotypic group References 632 ---033-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3521 ---085-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 441 ---080-0-1 Male Hemizygous - BMD 1 442 ---080-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 132 ---059-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 367 ---325-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2556 ---166-7-0111 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 368 ---027-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1621 ---101-3-31 Male Hemizygous FRANCE DMD 106 1030 ---397-0-1 Male Hemizygous - DMD 1 1862 ---037-0-1 Male Hemizygous FRANCE IMD 1 3125 ---037-1-1 Male Hemizygous FRANCE IMD 1 3126 ---037-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 3273 ---890-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1647 ---098-6-41 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 369 ---251-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 370 ---245-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3237 ---624-0-1 Male Hemizygous FRANCE BMD 1 3238 ---624-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2339 ---047-2-91 Male Hemizygous FRANCE BMD 112 2619 ---204-7-181 Male Hemizygous FRANCE BMD 115 2620 ---204-7-171 Male Hemizygous FRANCE BMD 115 2691 ---235-4-041 Male Hemizygous FRANCE Pending 115 1668 ---310-7-31 Male Hemizygous FRANCE BMD 106 1786 ---921-0-281 Male Hemizygous FRANCE BMD 116 403 ---190-0-1 Male Hemizygous - BMD 1 404 ---190-1-1 Male Hemizygous - BMD 1 415 ---427-1-1 Male Hemizygous - BMD 1 416 ---427-0-1 Male Hemizygous - BMD 1 765 ---634-0-1 Male Hemizygous FRANCE BMD 1 3175 ---607-0-1 Male Hemizygous FRANCE DCM 1 3258 ---035-0-1 Male Hemizygous FRANCE BMD 1 3259 ---035-1-1 Male Hemizygous FRANCE BMD 1 3545 ---164-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3234 ---089-0-1 Male Hemizygous FRANCE DMD 1 3235 ---089-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 1476 ---286-5-71 Male Hemizygous FRANCE DMD 106 2214 ---202-0-m1 Male Hemizygous FRANCE DMD 114 2612 ---361-8-31 Male Hemizygous FRANCE DMD 106 2672 ---217-6-4231 Male Hemizygous FRANCE DMD 116 2692 ---237-5-351 Male Hemizygous FRANCE DMD 115 2711 ---120-4-0561 Male Hemizygous FRANCE DMD 116 2732 ---077-9-81 Male Hemizygous FRANCE DMD 112 31 ---282-0-1 Male Hemizygous - DMD 1 2381 ---300-6-91 Male Hemizygous FRANCE DMD 106 1657 ---010-6-91 Male Hemizygous FRANCE DMD 106 1658 ---010-0-21 Male Hemizygous FRANCE DMD 106 2576 ---156-5-2231 Male Hemizygous FRANCE DMD 116 510 ---082-0-1 Male Hemizygous - DMD 1 2833 ---282-1-1 Male Hemizygous - DMD 1 2989 ---282-1-1 Male Hemizygous - DMD 1 3041 ---808-0-1 Male Hemizygous - DMD 1 3044 ---772-0-1 Male Hemizygous - DMD 1 3095 ---136-0-1 Male Hemizygous - DMD 1 3097 ---814-0-1 Male Hemizygous - DMD 1 3098 ---813-0-1 Male Hemizygous - DMD 1 3099 ---800-0-1 Male Hemizygous - DMD 1 3122 ---020-0-1 Male Hemizygous - DMD 1 3178 ---740-0-1 Male Hemizygous FRANCE DMD 1 3183 ---856-0-1 Male Hemizygous - Pending 1 3191 ---889-0-1 Male Hemizygous - Pending 1 3221 ---567-0-1 Male Hemizygous - DMD 1 3244 ---672-0-1 Male Hemizygous FRANCE DMD 1 3437 ---069-0-1 Male Hemizygous FRANCE DMD 1 3468 ---289-0-1 Male Hemizygous FRANCE DMD 1 3470 ---225-0-1 Male Hemizygous FRANCE DMD 1 3527 ---217-0-1 Male Hemizygous FRANCE DMD 1 2936 ---102-4-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2580 ---070-0-61 Male Hemizygous FRANCE DMD 127
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 Mutation status Geographic origin Phenotypic group References 2000 ---126-8-62831 Male Hemizygous FRANCE DMD 117 38 ---186-0-1 Male Hemizygous FRANCE IMD 1 47 ---335-0-1 Male Hemizygous FRANCE DMD 1 1730 ---223-7-4011 Male Hemizygous FRANCE DMD 116 1376 ---654-0-1 Male Hemizygous - DMD 1 2829 ---186-1-1 Male Hemizygous FRANCE Pending 1 2985 ---186-1-1 Male Hemizygous FRANCE Pending 1 3343 ---846-0-1 Male Hemizygous FRANCE DMD 1 3444 ---971-0-1 Male Hemizygous FRANCE Pending 1 3548 ---997-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1628 ---363-8-01 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2758 ---112-3-11 Male Hemizygous FRANCE Pending 112 1775 ---209-0-3361 Male Hemizygous FRANCE BMD 116 516 ---027-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2073 ---002-7-A1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3298 ---149-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1880 ---101-2-61 Male Hemizygous FRANCE DMD 115 2895 ---102-8-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2036 ---023-0-91 Male Hemizygous FRANCE Pending 122 2037 ---023-0-01 Male Hemizygous FRANCE Pending 122 1897 ---122-6-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 439 ---466-0-1 Male Hemizygous - BMD 1 3292 ---808-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 408 ---230-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2849 ---620-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2603 ---231-3-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 4 ---406-0-2 Female Heterozygous - 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 Mutation status Geographic origin Phenotypic group References 48 ---174-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1916 ---057-9-m161 Male Hemizygous - DMD 113 164 ---096-0-1 Male Hemizygous - DMD 1 3227 ---096-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 375 ---149-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2030 ---006-0-31 Male Hemizygous FRANCE Pending 122 517 ---077-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2002 ---115-5-48751 Male Hemizygous FRANCE BMD 117 2044 ---037-0-71 Male Hemizygous FRANCE BMD 122 1475 ---017-4-91 Male Hemizygous FRANCE BMD 110 1873 ---094-9-21 Male Hemizygous FRANCE BMD 115 1934 ---042-2-91 Male Hemizygous FRANCE BMD 106 1935 ---042-2-01 Male Hemizygous FRANCE BMD 106 2754 ---107-0-51 Male Hemizygous FRANCE BMD 112 1782 ---992-0-051 Male Hemizygous FRANCE BMD 116 409 ---186-0-1 Male Hemizygous - BMD 1 410 ---186-1-1 Male Hemizygous - BMD 1 411 ---186-2-1 Male Hemizygous - BMD 1 418 ---100-0-1 Male Hemizygous - BMD 1 445 ---141-0-1 Male Hemizygous - BMD 1 512 ---070-0-1 Male Hemizygous FRANCE BMD 1 513 ---142-0-1 Male Hemizygous - BMD 1 514 ---249-0-1 Male Hemizygous - BMD 1 3079 ---748-0-1 Male Hemizygous - BMD 1 3168 ---116-0-1 Male Hemizygous - BMD 1 3246 ---070-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2204 ---190-C-21 Male Hemizygous FRANCE DMD 114 371 ---191-0-1 Male Hemizygous - DMD 1 633 ---226-0-1 Male Hemizygous FRANCE BMD 1 634 ---307-0-1 Male Hemizygous - BMD 1 864 ---641-0-1 Male Hemizygous FRANCE Pending 1 1372 ---709-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 165 ---169-0-1 Male Hemizygous - DMD 1 1716 ---211-7-3421 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 376 ---050-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2065 ---079-0-11 Male Hemizygous FRANCE Pending 122 518 ---114-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 515 ---165-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2353 ---370-8-91 Male Hemizygous FRANCE Pending 106 2743 ---097-1-51 Male Hemizygous FRANCE Pending 112 1678 ---043-5-51 Male Hemizygous FRANCE DMD 112 440 ---063-0-1 Male Hemizygous FRANCE BMD 1 3049 ---107-0-1 Male Hemizygous - BMD 1 2882 ---063-1-1 Male Hemizygous FRANCE BMD 1 2883 ---063-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3347 ---940-0-1 Male Hemizygous FRANCE DMD 1 3526 ---940-1-1 Male Hemizygous FRANCE DMD 1 3584 ---940-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2545 ---116-3-0411 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3497 ---149-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2374 ---138-8-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3303 ---829-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2050 ---047-0-31 Male Hemizygous FRANCE Pending 122 1778 ---155-6-3141 Male Hemizygous FRANCE DMD 119 3513 ---349-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2004 ---135-8-75621 Male Hemizygous FRANCE DMD 117 33 ---027-1-1 Male Hemizygous - DMD 1 34 ---027-0-1 Male Hemizygous - DMD 1 45 ---146-0-1 Male Hemizygous - BMD 1 159 ---098-0-1 Male Hemizygous - DMD 1 1734 ---161-8-3131 Male Hemizygous FRANCE DMD 116 1735 ---161-8-3121 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 133 ---295-0-1 Male Hemizygous - DMD 1 738 ---625-0-1 Male Hemizygous - DMD 1 1043 ---622-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2109 ---058-C-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1822 ---031-3-21 Male Hemizygous FRANCE DMD 115 3515 ---031-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2451 ---249-4-41 Male Hemizygous FRANCE BMD 106 1632 ---303-7-41 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1846 ---056-5-71 Male Hemizygous FRANCE DMD 115 2416 ---021-3-51 Male Hemizygous FRANCE Pending 126 2439 ---044-5-11 Male Hemizygous FRANCE Pending 126 166 ---077-0-1 Male Hemizygous - DMD 1 3483 ---710-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2012 ---202-4-61181 Male Hemizygous FRANCE BMD 117 2473 ---045-0-71 Male Hemizygous FRANCE DMD 127 49 ---027-0-1 Male Hemizygous - DMD 1 1803 ---009-0-11 Male Hemizygous FRANCE DMD 115 1374 ---689-0-1 Male Hemizygous - DMD 1 3166 ---854-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2010 ---243-2-81 Male Hemizygous FRANCE BMD 117 2642 ---209-1-121 Male Hemizygous FRANCE BMD 115 2062 ---075-0-81 Male Hemizygous FRANCE DMD 122 2063 ---075-0-91 Male Hemizygous FRANCE DMD 122 2064 ---077-0-01 Male Hemizygous FRANCE BMD 122 2115 ---048-5-51 Male Hemizygous FRANCE Pending 110 1487 ---028-1-21 Male Hemizygous FRANCE DMD 110 1489 ---031-0-41 Male Hemizygous FRANCE BMD 110 1494 ---036-4-41 Male Hemizygous FRANCE DMD 110 1501 ---044-2-81 Male Hemizygous FRANCE DMD 110 1553 ---117-7-81 Male Hemizygous FRANCE BMD 106 1554 ---117-7-61 Male Hemizygous BELGIUM BMD 106 1600 ---242-3-31 Male Hemizygous FRANCE DMD 106 1881 ---102-0-41 Male Hemizygous FRANCE BMD 115 1902 ---004-0-11 Male Hemizygous - BMD 113 1913 ---051-7-m061 Male Hemizygous - BMD 113 1943 ---032-1-01 Male Hemizygous FRANCE BMD 106 1967 ---049-2-21 Male Hemizygous FRANCE Pending 106 2181 ---140-D-11 Male Hemizygous FRANCE Pending 114 2207 ---194-5-m1 Male Hemizygous FRANCE BMD 114 2466 ---026-7-61 Male Hemizygous FRANCE BMD 127 2474 ---027-3-31 Male Hemizygous FRANCE BMD 127 2486 ---054-3-71 Male Hemizygous FRANCE BMD 127 2675 ---194-3-0901 Male Hemizygous FRANCE Pending 121 2725 ---066-3-61 Male Hemizygous FRANCE DMD 112 2737 ---085-1-61 Male Hemizygous FRANCE DMD 112 21 ---087-0-1 Male Hemizygous - DMD 1 29 ---185-0-1 Male Hemizygous - DMD 1 46 ---400-0-1 Male Hemizygous FRANCE DMD 1 160 ---059-0-1 Male Hemizygous - DMD 1 161 ---159-0-1 Male Hemizygous FRANCE BMD 1 163 ---398-0-1 Male Hemizygous - DMD 1 436 ---062-0-1 Male Hemizygous - IMD 1 437 ---062-1-1 Male Hemizygous - IMD 1 446 ---055-0-1 Male Hemizygous FRANCE BMD 1 447 ---146-0-1 Male Hemizygous - BMD 1 502 ---131-0-1 Male Hemizygous FRANCE BMD 1 511 ---042-0-1 Male Hemizygous - BMD 1 744 ---354-0-1 Male Hemizygous FRANCE BMD 1 749 ---036-0-1 Male Hemizygous - DMD 1 985 ---686-0-1 Male Hemizygous - DMD 1 1388 ---627-0-1 Male Hemizygous - DMD 1 2806 ---087-1-1 Male Hemizygous - DMD 1 2807 ---087-2-1 Male Hemizygous - DMD 1 2808 ---087-3-1 Male Hemizygous - DMD 1 2962 ---087-1-1 Male Hemizygous - DMD 1 2963 ---087-2-1 Male Hemizygous - DMD 1 2964 ---087-3-1 Male Hemizygous - DMD 1 3075 ---068-0-1 Male Hemizygous - IMD 1 3335 ---823-0-1 Male Hemizygous FRANCE Pending 1 3336 ---823-1-1 Male Hemizygous FRANCE BMD 1 3376 ---389-0-1 Male Hemizygous FRANCE DMD 1 3518 ---796-0-1 Male Hemizygous FRANCE DMD 1 3551 ---608-0-1 Male Hemizygous FRANCE DMD 1 2935 ---101-5-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2360 ---194-1-01 Male Hemizygous FRANCE DMD 106 2544 ---065-6-81 Male Hemizygous FRANCE DMD 110 2709 ---822-8-8071 Male Hemizygous FRANCE DMD 116 2727 ---069-1-81 Male Hemizygous FRANCE DMD 112 13 ---443-0-1 Male Hemizygous - DMD 1 134 ---069-0-1 Male Hemizygous - DMD 6 2786 ---069-2-2 Female Heterozygous - Symptomatic carrier 6 2787 ---069-1-2 Female Heterozygous - Symptomatic carrier 6 1021 ---048-1-1 Male Hemizygous FRANCE DMD 1 1656 ---217-3-01 Male Hemizygous FRANCE DMD 106 2326 ---061-2-61 Male Hemizygous FRANCE DMD 110 1720 ---224-0-4171 Male Hemizygous FRANCE DMD 119 372 ---041-0-1 Male Hemizygous - DMD 1 373 ---048-0-1 Male Hemizygous FRANCE DMD 1 374 ---417-0-1 Male Hemizygous FRANCE DMD 1 1022 ---048-2-1 Male Hemizygous FRANCE DMD 1 443 ---253-0-1 Male Hemizygous - BMD 1 998 ---041-1-1 Male Hemizygous FRANCE DMD 119 1023 ---048-3-1 Male Hemizygous FRANCE DMD 1 2942 ---069-2-2 Female Heterozygous - Symptomatic carrier 6 2943 ---069-1-2 Female Heterozygous - Symptomatic carrier 6 3064 ---010-0-1 Male Hemizygous - IMD 1 3514 ---964-0-1 Male Hemizygous FRANCE DMD 1 3523 ---811-0-1 Male Hemizygous FRANCE DMD 119 3524 ---811-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 3532 ---990-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1537 ---019-0-41 Male Hemizygous FRANCE DMD 112 2311 ---019-0-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2420 ---026-4-11 Male Hemizygous FRANCE DMD 126 2421 ---026-4-21 Male Hemizygous FRANCE Pending 126 2628 ---001-0-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 448 ---176-0-1 Male Hemizygous - BMD 1 449 ---176-1-1 Male Hemizygous - BMD 1 3488 ---098-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1687 ---305-3-5951 Male Hemizygous FRANCE Pending 116 3274 ---434-0-1 Male Hemizygous FRANCE Pending 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 Mutation status Geographic origin Phenotypic group References 519 ---022-1-1 Male Hemizygous - BMD 1 520 ---022-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2772 ---207-3-0291 Male Hemizygous FRANCE BMD 121 1806 ---012-1-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1361 ---739-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2020 ---828-4-3851 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2815 ---682-0-1 Male Hemizygous - DMD 1 2971 ---682-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 377 ---288-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1259 ---339-0-1 Male Hemizygous - BMD 1 1261 ---339-1-2 Female Heterozygous - Symptomatic carrier 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 Mutation status Geographic origin Phenotypic group References 2317 ---046-5-41 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1552 ---036-5-41 Male Hemizygous FRANCE DMD 112 50 ---060-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2587 ---036-9-m2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2106 ---050-8-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 168 ---379-0-1 Male Hemizygous - DMD 1 169 ---379-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2056 ---059-0-01 Male Hemizygous FRANCE BMD 122 135 ---132-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1713 ---215-8-3631 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3530 ---342-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2322 ---055-1-01 Male Hemizygous FRANCE BMD 112 2323 ---055-3-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2105 ---048-0-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2505 ---780-0-Y11 Male Hemizygous ISRAEL DMD 121 1886 ---107-3-01 Male Hemizygous FRANCE Pending 115 2121 ---054-8-22 Female Hemizygous FRANCE Symptomatic carrier 110 2142 ---093-6-m1 Male Hemizygous FRANCE DMD 114 2210 ---198-3-m1 Male Hemizygous FRANCE DMD 114 2211 ---198-4-m1 Male Hemizygous FRANCE DMD 114 1828 ---038-2-21 Male Hemizygous FRANCE Pending 115 1836 ---046-4-61 Male Hemizygous FRANCE DMD 115 1851 ---061-5-41 Male Hemizygous FRANCE BMD 115 2357 ---057-8-01 Male Hemizygous FRANCE DMD 112 2457 ---066-0-31 Male Hemizygous FRANCE DMD 122 2633 ---006-0-61 Male Hemizygous FRANCE DMD 128 2676 ---203-1-0261 Male Hemizygous FRANCE DMD 121 26 ---198-0-1 Male Hemizygous - DMD 1 362 ---198-1-1 Male Hemizygous - DMD 1 1694 ---189-1-2411 Male Hemizygous FRANCE DMD 116 701 ---583-0-1 Male Hemizygous - DMD 1 2790 ---198-2-1 Male Hemizygous - DMD 1 1394 ---332-0-1 Male Hemizygous - DMD 1 2946 ---198-2-1 Male Hemizygous - DMD 1 3442 ---789-0-1 Male Hemizygous FRANCE DMD 1 3522 ---979-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2123 ---056-4-01 Male Hemizygous FRANCE DMD 110 2152 ---110-9-A1 Male Hemizygous FRANCE DMD 114 2750 ---105-8-91 Male Hemizygous FRANCE DMD 112 378 ---432-0-1 Male Hemizygous - DMD 1 3327 ---771-0-2 Female Heterozygous SPAIN Symptomatic carrier 1 3328 ---771-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 956 ---667-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2061 ---074-0-71 Male Hemizygous FRANCE BMD 122 1885 ---106-1-41 Male Hemizygous FRANCE BMD 115 521 ---109-0-1 Male Hemizygous - BMD 1 522 ---109-1-1 Male Hemizygous - BMD 1 523 ---137-0-1 Male Hemizygous - BMD 1 3306 ---934-0-1 Male Hemizygous FRANCE BMD 1
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 Mutation status Geographic origin Phenotypic group References 1829 ---039-3-41 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1044 ---656-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1676 ---013-0-1 Male Hemizygous - IMD 1 1677 ---013-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2358 ---058-8-01 Male Hemizygous FRANCE DMD 112 2759 ---058-1-41 Male Hemizygous FRANCE DMD 112 170 ---311-1-1 Male Hemizygous SAUDI ARABIA DMD 1 1325 ---311-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2749 ---104-3-61 Male Hemizygous FRANCE DMD 112
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 Mutation status Geographic origin Phenotypic group References 524 ---159-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3381 ---020-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1390 ---047-0-1 Male Hemizygous - DMD 1 1391 ---047-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2077 ---006-5-m1 Male Hemizygous FRANCE DMD 114 171 ---109-0-1 Male Hemizygous FRANCE DMD 1 1016 ---109-1-1 Male Hemizygous FRANCE DMD 1 2941 ---109-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 3055 ---758-0-1 Male Hemizygous - BMD 1 3579 ---101-3-11 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 2397 ---004-0-91 Male Hemizygous FRANCE Pending 126 2398 ---004-0-31 Male Hemizygous FRANCE Pending 126 3435 ---133-0-1 Male Hemizygous FRANCE DMD 1 3436 ---133-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1572 ---177-4-61 Male Hemizygous FRANCE DMD 100 381 ---052-0-1 Male Hemizygous - DMD 1 382 ---077-0-1 Male Hemizygous - DMD 1 1026 ---052-1-1 Male Hemizygous - DMD 1 1189 ---077-1-1 Male Hemizygous - DMD 1 3567 ---100-0-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 54 ---157-0-1 Male Hemizygous - DMD 1 177 ---026-0-1 Male Hemizygous - DMD 1 760 ---579-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1581 ---195-4-61 Male Hemizygous FRANCE DMD 100 185 ---010-0-1 Male Hemizygous - DMD 1 1623 ---157-2-81 Male Hemizygous FRANCE DMD 106 3192 ---891-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1543 ---025-1-81 Male Hemizygous FRANCE DMD 112 1566 ---166-9-11 Male Hemizygous LEIBANON DMD 106 2190 ---164-3-m1 Male Hemizygous FRANCE DMD 114 2201 ---183-A-91 Male Hemizygous FRANCE DMD 114 2202 ---183-X-01 Male Hemizygous FRANCE DMD 114 155 ---179-0-1 Male Hemizygous - DMD 1 1700 ---209-6-3871 Male Hemizygous FRANCE DMD 116 1320 ---179-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2040 ---031-0-31 Male Hemizygous FRANCE IMD 122 2041 ---031-0-41 Male Hemizygous FRANCE DMD 122 1626 ---005-5-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2178 ---135-3-m1 Male Hemizygous FRANCE DMD 114 3253 ---063-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 384 ---228-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2116 ---049-5-61 Male Hemizygous FRANCE Pending 110 2183 ---152-B-81 Male Hemizygous FRANCE DMD 114 178 ---012-0-1 Male Hemizygous - DMD 1 179 ---039-0-1 Male Hemizygous - DMD 1 3375 ---107-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 136 ---224-0-1 Male Hemizygous - DMD 1 385 ---260-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1472 ---013-0-31 Male Hemizygous FRANCE Pending 110 180 ---076-0-1 Male Hemizygous - DMD 1 888 ---016-1-1 Male Hemizygous - DMD 1 889 ---016-0-1 Male Hemizygous - DMD 1 3383 ---011-0-1 Male Hemizygous FRANCE DMD 1 3438 ---961-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 386 ---370-0-1 Male Hemizygous - DMD 1 387 ---370-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1519 ---153-9-31 Male Hemizygous FRANCE DMD 106 3489 ---116-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 40 ---129-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2110 ---263-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2114 ---047-5-81 Male Hemizygous FRANCE Pending 110 3478 ---972-0-1 Male Hemizygous FRANCE DMD 1 2842 ---972-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2086 ---017-3-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 182 ---298-1-1 Male Hemizygous - DMD 1 183 ---298-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1956 ---023-1-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1872 ---093-3-91 Male Hemizygous FRANCE DMD 115 3552 ---629-0-1 Male Hemizygous FRANCE DMD 1 3553 ---629-1-1 Male Hemizygous FRANCE DMD 1 3581 ---629-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2417 ---023-3-11 Male Hemizygous FRANCE Pending 126 2686 ---222-2-431 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1962 ---016-1-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1595 ---227-2-41 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2047 ---041-0-01 Male Hemizygous FRANCE DMD 122 184 ---362-0-1 Male Hemizygous - DMD 1 3297 ---860-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2492 ---074-4-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 52 ---187-0-1 Male Hemizygous - DMD 119 1776 ---157-0-0091 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1466 ---266-5-71 Male Hemizygous FRANCE DMD 106 1565 ---162-0-11 Male Hemizygous FRANCE DMD 106 2698 ---238-5-432 Female Heterozygous FRANCE Symptomatic carrier 115 51 ---170-0-1 Male Hemizygous FRANCE DMD 1 53 ---475-0-1 Male Hemizygous - DMD 1 172 ---079-0-1 Male Hemizygous - DMD 1 173 ---044-0-1 Male Hemizygous - DMD 1 175 ---130-0-1 Male Hemizygous - DMD 1 3000 ---079-1-1 Male Hemizygous - DMD 1 3405 ---020-0-1 Male Hemizygous FRANCE DMD 1 3511 ---411-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2026 ---415-0-01 Male Hemizygous FRANCE DMD 106 2031 ---008-0-41 Male Hemizygous FRANCE DMD 122 2032 ---008-0-51 Male Hemizygous FRANCE DMD 122 2072 ---001-1-A1 Male Hemizygous FRANCE DMD 114 2188 ---162-5-MA1 Male Hemizygous FRANCE IMD 114 1779 ---109-6-1061 Male Hemizygous FRANCE DMD 119 380 ---093-0-1 Male Hemizygous FRANCE DMD 1 3394 ---043-0-1 Male Hemizygous FRANCE DMD 1 3434 ---534-0-1 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 1957 ---028-1-51 Male Hemizygous FRANCE DMD 106 2452 ---113-7-81 Male Hemizygous LEIBANON DMD 106 2458 ---066-0-31 Male Hemizygous FRANCE DMD 122 57 ---033-0-1 Male Hemizygous FRANCE DMD 1 58 ---147-0-1 Male Hemizygous - DMD 1 59 ---347-0-1 Male Hemizygous - DMD 1 186 ---171-0-1 Male Hemizygous - DMD 1 187 ---496-0-1 Male Hemizygous - DMD 1 3321 ---876-0-1 Male Hemizygous FRANCE DMD 1 3323 ---648-0-1 Male Hemizygous FRANCE DMD 1 3418 ---640-0-1 Male Hemizygous FRANCE DMD 1 3419 ---640-1-1 Male Hemizygous FRANCE DMD 1 3499 ---906-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2478 ---094-4-01 Male Hemizygous FRANCE DMD 127 137 ---236-0-1 Male Hemizygous - DMD 1 3534 ---025-0-1 Male Hemizygous FRANCE DMD 1 3559 ---023-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2760 ---114-1-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2696 ---213-2-852 Female Heterozygous FRANCE Symptomatic carrier 115 505 ---373-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3544 ---683-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 188 ---096-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 138 ---064-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 509 ---479-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 388 ---298-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2057 ---065-0-11 Male Hemizygous FRANCE Pending 122 2058 ---065-0-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2027 ---401-1-91 Male Hemizygous FRANCE DMD 106 3426 ---839-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 525 ---272-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3046 ---759-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1994 ---093-1-981 Male Hemizygous FRANCE BMD 117 2627 ---423-1-41 Male Hemizygous FRANCE BMD 106 2316 ---041-7-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1711 ---146-9-1551 Male Hemizygous FRANCE Pending 116 507 ---185-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 635 ---482-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 526 ---167-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 422 ---152-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 189 ---054-0-1 Male Hemizygous - DMD 1 190 ---054-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 60 ---145-0-1 Male Hemizygous - DMD 1 156 ---182-0-1 Male Hemizygous FRANCE DMD 1 192 ---219-0-1 Male Hemizygous - DMD 1 1742 ---217-0-3681 Male Hemizygous FRANCE DMD 119 2827 ---145-1-1 Male Hemizygous - DMD 1 2983 ---145-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1915 ---056-9-m011 Male Hemizygous - DMD 113
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 Mutation status Geographic origin Phenotypic group References 3040 ---753-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2482 ---020-5-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 508 ---190-0-1 Male Hemizygous - BMD 1 2797 ---190-1-1 Male Hemizygous - BMD 1 2953 ---190-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1979 ---070-4-61 Male Hemizygous FRANCE BMD 106 1980 ---070-4-31 Male Hemizygous FRANCE BMD 106 2645 ---029-4-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3305 ---691-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2128 ---067-F-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2630 ---003-0-31 Male Hemizygous FRANCE BMD 128
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 Mutation status Geographic origin Phenotypic group References 1488 ---030-2-11 Male Hemizygous FRANCE DMD 110 193 ---059-0-1 Male Hemizygous - DMD 1 1083 ---712-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 62 ---418-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1564 ---161-9-71 Male Hemizygous - DMD 100 2722 ---062-3-51 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2552 ---164-0-011 Male Hemizygous FRANCE DMD 121 194 ---305-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1633 ---206-2-11 Male Hemizygous FRANCE DMD 106 389 ---446-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3512 ---493-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2775 ---218-3-0821 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2130 ---069-8-m1 Male Hemizygous FRANCE DMD 114 2384 ---320-7-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3428 ---158-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 699 ---555-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2029 ---004-0-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1548 ---031-9-01 Male Hemizygous FRANCE DMD 112 1954 ---003-0-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1805 ---011-1-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2060 ---071-0-51 Male Hemizygous FRANCE DMD 122
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 Mutation status Geographic origin Phenotypic group References 3460 ---952-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2038 ---025-0-11 Male Hemizygous FRANCE DMD 122 2039 ---025-0-21 Male Hemizygous FRANCE DMD 122 2658 ---526-5-12 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 450 ---186-0-1 Male Hemizygous FRANCE BMD 7 3199 ---186-3-1 Male Hemizygous FRANCE BMD 7 3200 ---186-1-1 Male Hemizygous FRANCE Asymptomatic 7 3206 ---186-4-1 Male Hemizygous FRANCE Asymptomatic 7 3207 ---186-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1587 ---209-2-11 Male Hemizygous FRANCE BMD 106 1588 ---209-7-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1888 ---111-9-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2491 ---059-4-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2447 ---053-6-71 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2157 ---119-B-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2205 ---191-E-11 Male Hemizygous FRANCE Pending 114
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 Mutation status Geographic origin Phenotypic group References 63 ---193-0-1 Male Hemizygous - DMD 1 150 ---167-0-1 Male Hemizygous - DMD 1 196 ---260-0-1 Male Hemizygous - DMD 1 1754 ---C20-0-321 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 139 ---090-0-1 Male Hemizygous - DMD 1 390 ---190-0-1 Male Hemizygous - DMD 1 391 ---269-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2724 ---064-2-71 Male Hemizygous FRANCE Pending 112 3387 ---916-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3400 ---942-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1274 ---517-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 197 ---118-0-1 Male Hemizygous FRANCE DMD 1 198 ---118-1-1 Male Hemizygous FRANCE DMD 1 698 ---548-0-2 Female Heterozygous - 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 Mutation status Geographic origin Phenotypic group References 2454 ---246-3-91 Male Hemizygous SPAIN DMD 106
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 Mutation status Geographic origin Phenotypic group References 435 ---408-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2731 ---076-5-11 Male Hemizygous FRANCE Pending 112
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 Mutation status Geographic origin Phenotypic group References 199 ---066-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2143 ---094-0-MA1 Male Hemizygous TUNISIA DMD 114 3272 ---843-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3504 ---042-0-1 Male Hemizygous FRANCE DMD 1 3505 ---042-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3537 ---484-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3411 ---494-0-1 Male Hemizygous FRANCE BMD 1 3412 ---494-1-1 Male Hemizygous FRANCE Asymptomatic 1 3413 ---494-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3448 ---974-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2176 ---133-E-31 Male Hemizygous FRANCE DMD 114 2192 ---168-F-11 Male Hemizygous FRANCE DMD 114 2193 ---168-F-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2702 ---546-6-61 Male Hemizygous FRANCE Pending 106 3492 ---769-0-1 Male Hemizygous FRANCE BMD 1 3493 ---769-0-2 Female Heterozygous FRANCE Symptomatic carrier 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 Mutation status Geographic origin Phenotypic group References 2320 ---053-4-71 Male Hemizygous FRANCE DMD 112 2673 ---233-9-4351 Male Hemizygous FRANCE DMD 116 3345 ---075-0-1 Male Hemizygous FRANCE DMD 1 3355 ---455-0-1 Male Hemizygous FRANCE DMD 1 3403 ---504-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 64 ---157-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1662 ---077-5-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3482 ---969-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2742 ---095-7-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 157 ---367-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 392 ---010-1-1 Male Hemizygous FRANCE DMD 1 3464 ---010-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 65 ---040-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2118 ---051-5-01 Male Hemizygous FRANCE DMD 110 3382 ---019-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2170 ---129-9-A1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2005 ---943-2-71 Male Hemizygous FRANCE DMD 117 2051 ---049-0-41 Male Hemizygous FRANCE DMD 122 2095 ---028-8-m1 Male Hemizygous FRANCE DMD 114 2585 ---028-2-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2558 ---169-5-0531 Male Hemizygous FRANCE DMD 121 66 ---131-0-1 Male Hemizygous - DMD 119 67 ---174-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2741 ---093-8-71 Male Hemizygous FRANCE DMD 112
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 Mutation status Geographic origin Phenotypic group References 202 ---309-0-1 Male Hemizygous - DMD 1 203 ---309-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3332 ---807-0-1 Male Hemizygous FRANCE IMD 1 3333 ---807-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1542 ---024-0-31 Male Hemizygous FRANCE DMD 112 2312 ---024-7-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2449 ---050-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3299 ---164-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2468 ---028-3-11 Male Hemizygous FRANCE BMD 127 1627 ---026-1-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2571 ---157-8-3261 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2346 ---412-0-91 Male Hemizygous FRANCE BMD 106 2677 ---412-3-41 Male Hemizygous FRANCE Pending 106
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 Mutation status Geographic origin Phenotypic group References 2071 ---390-1-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1964 ---029-1-71 Male Hemizygous FRANCE DMD 106 2147 ---579-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2480 ---061-5-51 Male Hemizygous FRANCE IMD 127 3502 ---597-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 204 ---509-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 68 ---021-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2639 ---497-4-92 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 3536 ---240-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2783 ---791-4-821 Male Hemizygous FRANCE DMD 117
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 Mutation status Geographic origin Phenotypic group References 2158 ---121-B-21 Male Hemizygous FRANCE DMD 114 2637 ---012-0-31 Male Hemizygous FRANCE DMD 106 3364 ---883-0-1 Male Hemizygous FRANCE DMD 1 3466 ---862-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 636 ---171-0-1 Male Hemizygous FRANCE 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 Mutation status Geographic origin Phenotypic group References 2347 ---418-1-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2097 ---030-F-21 Male Hemizygous FRANCE DMD 114 205 ---026-0-1 Male Hemizygous - DMD 1 3423 ---759-0-1 Male Hemizygous FRANCE DMD 1 3424 ---759-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2549 ---234-0-251 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1978 ---069-4-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1930 ---037-2-41 Male Hemizygous FRANCE DMD 106 1931 ---037-7-61 Male Hemizygous FRANCE DMD 106 2581 ---052-8-71 Male Hemizygous FRANCE DMD 127 3304 ---889-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1768 ---138-5-3111 Male Hemizygous FRANCE DMD 119 1769 ---138-5-1251 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 206 ---073-0-1 Male Hemizygous - DMD 1 207 ---255-0-1 Male Hemizygous FRANCE DMD 1 208 ---255-1-1 Male Hemizygous FRANCE DMD 1 3255 ---255-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2690 ---231-3-861 Male Hemizygous FRANCE DMD 115
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 Mutation status Geographic origin Phenotypic group References 1919 ---063-0-m151 Male Hemizygous - BMD 113
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 Mutation status Geographic origin Phenotypic group References 530 ---415-0-1 Male Hemizygous FRANCE BMD 1 531 ---415-1-1 Male Hemizygous FRANCE BMD 1 3560 ---415-2-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3179 ---771-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 209 ---239-1-1 Male Hemizygous - DMD 1 210 ---239-0-1 Male Hemizygous - DMD 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 Mutation status Geographic origin Phenotypic group References 2687 ---225-2-231 Male Hemizygous FRANCE BMD 115 2688 ---225-4-021 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2120 ---053-5-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2139 ---088-0-m1 Male Hemizygous FRANCE BMD 114
p.Cys1258LeufsX21	c.3772ins25	27	1258	CRD-repeat #8		Large rearrangement	Fr.	Stop at 1278	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3384 ---461-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1912 ---050-7-m011 Male Hemizygous - DMD 113 69 ---120-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2364 ---013-0-m1 Male Hemizygous FRANCE BMD 114
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 Mutation status Geographic origin Phenotypic group References 1866 ---077-5-51 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 393 ---457-0-1 Male Hemizygous - DMD 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 Mutation status Geographic origin Phenotypic group References 2591 ---161-8-A2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2166 ---126-3-m1 Male Hemizygous FRANCE DMD 114 3161 ---874-0-2 Female Heterozygous - 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 Mutation status Geographic origin Phenotypic group References 2575 ---C21-2-7131 Male Hemizygous FRANCE DMD 116
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 Mutation status Geographic origin Phenotypic group References 2548 ---778-0-551 Male Hemizygous FRANCE DMD 121 3314 ---767-0-1 Male Hemizygous FRANCE DMD 1 3389 ---957-0-1 Male Hemizygous ALGERIA DMD 1 3479 ---974-0-1 Male Hemizygous FRANCE DMD 1 3480 ---960-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3481 ---971-0-1 Male Hemizygous FRANCE 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 Mutation status Geographic origin Phenotypic group References 1856 ---067-1-31 Male Hemizygous FRANCE DMD 115
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 Mutation status Geographic origin Phenotypic group References 2194 ---169-D-41 Male Hemizygous FRANCE BMD 114
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 Mutation status Geographic origin Phenotypic group References 1516 ---145-9-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1878 ---099-9-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1667 ---386-9-21 Male Hemizygous FRANCE BMD 106
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 Mutation status Geographic origin Phenotypic group References 1838 ---048-5-11 Male Hemizygous FRANCE DMD 115
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 Mutation status Geographic origin Phenotypic group References 2363 ---007-4-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2716 ---204-D-11 Male Hemizygous FRANCE BMD 114
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 Mutation status Geographic origin Phenotypic group References 2561 ---681-0-361 Male Hemizygous FRANCE DMD 121 2638 ---081-5-11 Male Hemizygous FRANCE BMD 106
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 Mutation status Geographic origin Phenotypic group References 2129 ---068-7-m1 Male Hemizygous FRANCE DMD 114 211 ---036-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2550 ---188-0-231 Male Hemizygous FRANCE Pending 121 2551 ---188-0-641 Male Hemizygous FRANCE Pending 121
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 Mutation status Geographic origin Phenotypic group References 2719 ---059-8-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2393 ---300-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
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 Mutation status Geographic origin Phenotypic group References 70 ---454-0-1 Male Hemizygous - DMD 1 212 ---191-0-1 Male Hemizygous - IMD 1 1654 ---375-9-31 Male Hemizygous FRANCE Pending 106
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 Mutation status Geographic origin Phenotypic group References 2191 ---166-D-21 Male Hemizygous FRANCE DMD 114 71 ---182-0-1 Male Hemizygous - DMD 1 213 ---058-0-1 Male Hemizygous - DMD 1 752 ---562-0-1 Male Hemizygous - DMD 1 3053 ---783-0-1 Male Hemizygous - DMD 1 3334 ---818-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 423 ---301-0-1 Male Hemizygous - BMD 1 3296 ---111-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1272 ---534-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2042 ---034-0-51 Male Hemizygous FRANCE BMD 122 2043 ---034-0-61 Male Hemizygous FRANCE BMD 122 1011 ---107-1-1 Male Hemizygous - BMD 1 444 ---107-0-1 Male Hemizygous - BMD 1 1012 ---107-2-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1486 ---027-1-71 Male Hemizygous FRANCE DMD 110
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 Mutation status Geographic origin Phenotypic group References 2028 ---001-0-11 Male Hemizygous FRANCE DMD 122 2070 ---085-0-81 Male Hemizygous FRANCE DMD 122 2112 ---063-E-11 Male Hemizygous FRANCE DMD 114 2113 ---063-E-31 Male Hemizygous FRANCE DMD 114 1539 ---021-8-31 Male Hemizygous FRANCE DMD 112 1573 ---178-0-61 Male Hemizygous FRANCE DMD 106 1603 ---252-4-91 Male Hemizygous FRANCE DMD 106 2217 ---207-0-41 Male Hemizygous FRANCE DMD 114 2230 ---227-0-31 Male Hemizygous FRANCE DMD 114 2231 ---227-X-41 Male Hemizygous FRANCE DMD 114 1841 ---051-1-11 Male Hemizygous FRANCE DMD 115 2489 ---032-3-91 Male Hemizygous FRANCE DMD 127 2497 ---209-0-M91 Male Hemizygous FRANCE DMD 121 2510 ---601-G-651 Male Hemizygous FRANCE DMD 121 6 ---347-0-2 Female Heterozygous - Symptomatic carrier 1 14 ---103-0-1 Male Hemizygous - DMD 1 35 ---406-0-1 Male Hemizygous - DMD 1 37 ---178-0-1 Male Hemizygous - DMD 1 73 ---054-0-1 Male Hemizygous - DMD 1 74 ---074-1-1 Male Hemizygous - DMD 1 75 ---074-0-1 Male Hemizygous - DMD 1 151 ---132-0-1 Male Hemizygous FRANCE DMD 119 214 ---037-0-1 Male Hemizygous FRANCE DMD 1 215 ---076-0-1 Male Hemizygous - DMD 1 216 ---085-0-1 Male Hemizygous - DMD 1 217 ---178-0-1 Male Hemizygous - DMD 1 218 ---187-0-1 Male Hemizygous - DMD 1 219 ---263-0-1 Male Hemizygous - DMD 1 220 ---296-0-1 Male Hemizygous - DMD 1 221 ---322-0-1 Male Hemizygous - DMD 1 222 ---401-0-1 Male Hemizygous FRANCE DMD 1 223 ---404-0-1 Male Hemizygous - DMD 1 224 ---420-0-1 Male Hemizygous - DMD 1 225 ---441-0-1 Male Hemizygous - DMD 1 226 ---446-0-1 Male Hemizygous - DMD 1 227 ---509-0-1 Male Hemizygous FRANCE DMD 1 1692 ---186-8-2351 Male Hemizygous FRANCE DMD 116 1728 ---225-9-4181 Male Hemizygous FRANCE DMD 119 1764 ---148-0-2431 Male Hemizygous FRANCE DMD 119 982 ---681-0-1 Male Hemizygous - DMD 1 1010 ---103-1-1 Male Hemizygous - DMD 1 1251 ---013-0-1 Male Hemizygous - DMD 1 1270 ---537-0-1 Male Hemizygous - DMD 1 2824 ---752-0-1 Male Hemizygous - DMD 1 2825 ---752-1-1 Male Hemizygous - DMD 1 2980 ---752-0-1 Male Hemizygous - DMD 1 2981 ---752-1-1 Male Hemizygous - DMD 1 3003 ---756-0-1 Male Hemizygous - DMD 1 3076 ---112-0-1 Male Hemizygous FRANCE DMD 1 3311 ---924-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 1559 ---127-1-21 Male Hemizygous FRANCE DMD 100 2663 ---127-3-42 Female Heterozygous FRANCE Symptomatic carrier 106 3315 ---939-0-1 Male Hemizygous FRANCE DMD 1 3416 ---787-0-1 Male Hemizygous FRANCE DMD 1 3455 ---734-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 76 ---146-0-1 Male Hemizygous - DMD 1 1807 ---013-1-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1360 ---742-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1620 ---059-3-01 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2011 ---205-3-81061 Male Hemizygous FRANCE DMD 117 78 ---151-0-1 Male Hemizygous - DMD 1 1170 ---730-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3469 ---131-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1845 ---055-1-61 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 140 ---084-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3241 ---914-0-1 Male Hemizygous FRANCE DMD 1 3242 ---914-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2726 ---067-1-91 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1634 ---015-8-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2479 ---017-0-91 Male Hemizygous FRANCE DMD 127
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 Mutation status Geographic origin Phenotypic group References 2555 ---153-2-0191 Male Hemizygous FRANCE DMD 121 1622 ---341-8-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2082 ---012-0-m1 Male Hemizygous FRANCE DMD 114 2325 ---058-5-91 Male Hemizygous FRANCE DMD 110 1536 ---017-2-31 Male Hemizygous FRANCE DMD 112 1540 ---022-0-21 Male Hemizygous FRANCE DMD 112 1567 ---169-0-81 Male Hemizygous FRANCE DMD 106 1944 ---035-4-21 Male Hemizygous FRANCE DMD 106 1947 ---063-3-91 Male Hemizygous FRANCE DMD 106 1975 ---106-6-01 Male Hemizygous FRANCE DMD 106 2138 ---087-E-11 Male Hemizygous FRANCE DMD 114 2155 ---114-E-21 Male Hemizygous FRANCE Pending 114 2165 ---123-0-m1 Male Hemizygous FRANCE DMD 114 2198 ---175-0-11 Male Hemizygous FRANCE DMD 114 2212 ---199-F-11 Male Hemizygous FRANCE DMD 114 1826 ---035-1-71 Male Hemizygous FRANCE DMD 115 1833 ---043-7-81 Male Hemizygous FRANCE DMD 115 1834 ---044-7-41 Male Hemizygous FRANCE Pending 115 2313 ---022-0-31 Male Hemizygous FRANCE DMD 112 2315 ---037-5-91 Male Hemizygous FRANCE DMD 112 2356 ---354-8-11 Male Hemizygous FRANCE DMD 106 2399 ---006-0-61 Male Hemizygous FRANCE Pending 126 2541 ---354-3-81 Male Hemizygous FRANCE Pending 106 2409 ---014-1-51 Male Hemizygous FRANCE Pending 126 2410 ---014-1-61 Male Hemizygous FRANCE Pending 126 2442 ---048-5-71 Male Hemizygous FRANCE Pending 126 2444 ---050-6-61 Male Hemizygous FRANCE Pending 126 2525 ---061-6-81 Male Hemizygous FRANCE Pending 126 2522 ---164-5-CY451 Male Hemizygous FRANCE DMD 121 2553 ---567-0-101 Male Hemizygous FRANCE DMD 121 2624 ---488-4-31 Male Hemizygous FRANCE DMD 106 2735 ---082-6-31 Male Hemizygous FRANCE DMD 112 2738 ---087-7-51 Male Hemizygous FRANCE DMD 112 2740 ---089-4-21 Male Hemizygous FRANCE DMD 112 18 ---536-0-1 Male Hemizygous FRANCE DMD 1 20 ---331-0-1 Male Hemizygous - DMD 1 28 ---074-0-1 Male Hemizygous - DMD 1 79 ---226-0-1 Male Hemizygous FRANCE DMD 1 80 ---368-0-1 Male Hemizygous - DMD 1 82 ---410-0-1 Male Hemizygous - DMD 1 152 ---173-0-1 Male Hemizygous - DMD 1 153 ---173-1-1 Male Hemizygous - DMD 1 229 ---028-0-1 Male Hemizygous - DMD 1 230 ---038-0-1 Male Hemizygous - DMD 1 231 ---047-0-1 Male Hemizygous - DMD 1 233 ---072-0-1 Male Hemizygous - DMD 1 234 ---072-1-1 Male Hemizygous - DMD 1 235 ---171-0-1 Male Hemizygous - DMD 1 237 ---432-0-1 Male Hemizygous - DMD 1 238 ---439-0-1 Male Hemizygous - DMD 1 239 ---467-0-1 Male Hemizygous - DMD 1 1613 ---022-8-41 Male Hemizygous FRANCE IMD 106 1653 ---007-0-51 Male Hemizygous FRANCE DMD 106 1674 ---037-5-81 Male Hemizygous FRANCE DMD 112 1729 ---224-3-4131 Male Hemizygous FRANCE DMD 119 1796 ---204-8-3181 Male Hemizygous FRANCE DMD 119 1798 ---001-0-31 Male Hemizygous FRANCE DMD 115 1801 ---004-0-31 Male Hemizygous FRANCE IMD 115 1802 ---006-0-11 Male Hemizygous FRANCE DMD 115 885 ---661-0-1 Male Hemizygous - DMD 1 899 ---664-0-1 Male Hemizygous - DMD 1 1373 ---707-0-1 Male Hemizygous IRAN DMD 1 1387 ---651-0-1 Male Hemizygous - DMD 1 2798 ---747-0-1 Male Hemizygous - DMD 1 2821 ---750-0-1 Male Hemizygous - DMD 1 2954 ---747-0-1 Male Hemizygous - DMD 1 2977 ---750-0-1 Male Hemizygous - DMD 1 3057 ---145-0-1 Male Hemizygous - DMD 1 3224 ---672-0-1 Male Hemizygous FRANCE DMD 1 3243 ---801-0-2 Female Heterozygous ARGENTINA Symptomatic carrier 1 3390 ---949-0-1 Male Hemizygous EGYPT DMD 1 3432 ---529-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2573 ---232-7-4851 Male Hemizygous FRANCE DMD 116 2574 ---232-7-5261 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2227 ---224-3-m1 Male Hemizygous FRANCE Pending 114 148 ---065-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1985 ---939-0-321 Male Hemizygous FRANCE BMD 121 1999 ---157-6-05781 Male Hemizygous FRANCE BMD 117 2007 ---801-1-3701 Male Hemizygous FRANCE BMD 117 2009 ---204-6-63831 Male Hemizygous FRANCE BMD 117 2309 ---001-0-21 Male Hemizygous FRANCE BMD 112 2075 ---004-1-m1 Male Hemizygous FRANCE Pending 114 2084 ---015-7-m1 Male Hemizygous FRANCE BMD 114 1468 ---004-3-21 Male Hemizygous FRANCE BMD 110 1495 ---038-2-21 Male Hemizygous FRANCE BMD 110 1502 ---045-1-91 Male Hemizygous FRANCE BMD 110 1520 ---001-0-01 Male Hemizygous FRANCE BMD 112 2324 ---008-8-91 Male Hemizygous FRANCE BMD 112 1526 ---007-4-91 Male Hemizygous FRANCE BMD 112 1527 ---008-8-81 Male Hemizygous FRANCE BMD 112 1535 ---016-6-21 Male Hemizygous FRANCE BMD 112 1597 ---232-3-31 Male Hemizygous FRANCE BMD 106 1858 ---069-1-31 Male Hemizygous FRANCE Pending 115 1875 ---096-0-01 Male Hemizygous FRANCE BMD 115 1876 ---097-1-41 Male Hemizygous FRANCE BMD 115 1887 ---110-4-31 Male Hemizygous FRANCE BMD 115 1891 ---115-1-51 Male Hemizygous FRANCE BMD 115 1892 ---116-6-11 Male Hemizygous FRANCE BMD 115 1893 ---116-6-51 Male Hemizygous FRANCE BMD 115 1894 ---119-0-21 Male Hemizygous FRANCE BMD 115 1898 ---123-9-71 Male Hemizygous FRANCE BMD 115 1900 ---125-9-91 Male Hemizygous FRANCE BMD 115 1905 ---020-0-51 Male Hemizygous - BMD 113 1910 ---047-6-m161 Male Hemizygous - BMD 113 1945 ---107-0-31 Male Hemizygous FRANCE BMD 106 1946 ---107-7-01 Male Hemizygous FRANCE BMD 106 1968 ---050-3-71 Male Hemizygous FRANCE BMD 106 2122 ---055-2-61 Male Hemizygous FRANCE BMD 110 2132 ---071-2-c1 Male Hemizygous FRANCE BMD 114 2136 ---083-8-m1 Male Hemizygous FRANCE BMD 114 2167 ---127-0-71 Male Hemizygous FRANCE BMD 114 2174 ---132-C-21 Male Hemizygous FRANCE BMD 114 2175 ---132-C-31 Male Hemizygous FRANCE BMD 114 2185 ---157-B-11 Male Hemizygous FRANCE BMD 114 2197 ---173-E-21 Male Hemizygous FRANCE BMD 114 2340 ---251-D-681 Male Hemizygous FRANCE BMD 121 2341 ---251-E-901 Male Hemizygous FRANCE BMD 121 2542 ---431-1-21 Male Hemizygous FRANCE BMD 106 2412 ---016-1-31 Male Hemizygous FRANCE Pending 126 2413 ---017-1-01 Male Hemizygous FRANCE Pending 126 2414 ---018-2-81 Male Hemizygous FRANCE Pending 126 2431 ---035-5-11 Male Hemizygous FRANCE Pending 126 2467 ---016-5-81 Male Hemizygous FRANCE BMD 127 2493 ---076-7-01 Male Hemizygous FRANCE BMD 127 2502 ---188-0-F41 Male Hemizygous FRANCE BMD 121 2503 ---188-D-981 Male Hemizygous FRANCE BMD 121 2563 ---653-0-911 Male Hemizygous FRANCE BMD 121 2565 ---899-0-671 Male Hemizygous FRANCE BMD 121 2617 ---202-4-91 Male Hemizygous FRANCE BMD 115 2665 ---066-6-11 Male Hemizygous FRANCE BMD 110 2667 ---070-6-31 Male Hemizygous FRANCE BMD 110 2668 ---069-6-81 Male Hemizygous FRANCE Pending 110 2730 ---075-1-81 Male Hemizygous FRANCE BMD 112 2748 ---103-9-71 Male Hemizygous FRANCE BMD 112 2753 ---103-0-51 Male Hemizygous FRANCE BMD 112 2778 ---219-6-371 Male Hemizygous FRANCE BMD 115 2782 ---342-3-17171 Male Hemizygous FRANCE BMD 117 240 ---503-0-1 Male Hemizygous - BMD 1 1616 ---314-7-61 Male Hemizygous FRANCE BMD 106 1617 ---314-7-41 Male Hemizygous FRANCE BMD 106 1680 ---045-7-71 Male Hemizygous FRANCE BMD 112 1686 ---C57-0-441 Male Hemizygous FRANCE BMD 116 407 ---067-1-1 Male Hemizygous FRANCE BMD 1 413 ---028-0-1 Male Hemizygous FRANCE BMD 1 414 ---421-0-1 Male Hemizygous - BMD 1 419 ---483-0-1 Male Hemizygous FRANCE BMD 1 451 ---042-0-1 Male Hemizygous FRANCE BMD 1 452 ---103-1-1 Male Hemizygous FRANCE BMD 1 453 ---103-0-1 Male Hemizygous FRANCE BMD 1 454 ---136-0-1 Male Hemizygous FRANCE BMD 1 455 ---140-1-1 Male Hemizygous FRANCE BMD 1 456 ---140-0-1 Male Hemizygous FRANCE BMD 1 457 ---172-0-1 Male Hemizygous FRANCE BMD 1 458 ---172-1-1 Male Hemizygous FRANCE BMD 1 460 ---334-0-1 Male Hemizygous FRANCE BMD 1 461 ---505-0-1 Male Hemizygous FRANCE BMD 1 490 ---165-0-1 Male Hemizygous FRANCE BMD 1 491 ---135-0-1 Male Hemizygous FRANCE BMD 1 496 ---172-0-1 Male Hemizygous FRANCE BMD 1 499 ---241-0-1 Male Hemizygous FRANCE BMD 1 500 ---374-0-1 Male Hemizygous FRANCE BMD 1 501 ---450-0-1 Male Hemizygous FRANCE BMD 1 503 ---134-0-1 Male Hemizygous FRANCE BMD 1 504 ---143-0-1 Male Hemizygous FRANCE BMD 1 532 ---012-0-1 Male Hemizygous FRANCE BMD 1 533 ---022-0-1 Male Hemizygous - BMD 1 534 ---033-0-1 Male Hemizygous FRANCE BMD 1 535 ---033-2-1 Male Hemizygous - BMD 1 536 ---033-1-1 Male Hemizygous - BMD 1 537 ---033-3-1 Male Hemizygous - BMD 1 538 ---042-0-1 Male Hemizygous FRANCE BMD 1 539 ---046-0-1 Male Hemizygous - BMD 1 540 ---071-0-1 Male Hemizygous - BMD 1 541 ---095-0-1 Male Hemizygous - BMD 1 542 ---101-5-1 Male Hemizygous FRANCE BMD 1 543 ---110-0-1 Male Hemizygous - BMD 1 544 ---115-0-1 Male Hemizygous - BMD 1 545 ---123-0-1 Male Hemizygous FRANCE BMD 1 546 ---138-0-1 Male Hemizygous - BMD 1 547 ---138-1-1 Male Hemizygous - BMD 1 548 ---144-0-1 Male Hemizygous - BMD 1 549 ---147-1-1 Male Hemizygous FRANCE BMD 1 551 ---167-0-1 Male Hemizygous FRANCE BMD 1 552 ---177-0-1 Male Hemizygous FRANCE BMD 1 553 ---226-2-1 Male Hemizygous - BMD 1 554 ---226-1-1 Male Hemizygous - BMD 1 555 ---226-0-1 Male Hemizygous - BMD 1 556 ---228-0-1 Male Hemizygous FRANCE BMD 1 557 ---277-1-1 Male Hemizygous FRANCE BMD 1 558 ---280-0-1 Male Hemizygous - BMD 1 559 ---281-0-1 Male Hemizygous - BMD 1 560 ---287-0-1 Male Hemizygous - BMD 1 561 ---320-2-1 Male Hemizygous - BMD 1 562 ---320-0-1 Male Hemizygous - BMD 1 564 ---354-0-1 Male Hemizygous - BMD 1 565 ---369-0-1 Male Hemizygous - BMD 1 566 ---374-0-1 Male Hemizygous - BMD 1 567 ---379-0-1 Male Hemizygous - BMD 1 569 ---380-0-1 Male Hemizygous - BMD 1 570 ---392-0-1 Male Hemizygous - BMD 1 572 ---418-0-1 Male Hemizygous - BMD 1 574 ---434-0-1 Male Hemizygous - BMD 1 575 ---481-0-1 Male Hemizygous FRANCE BMD 1 576 ---483-0-1 Male Hemizygous - BMD 1 577 ---490-0-1 Male Hemizygous Indian BMD 1 578 ---490-1-1 Male Hemizygous - BMD 1 579 ---490-2-1 Male Hemizygous - BMD 1 1004 ---101-1-1 Male Hemizygous FRANCE BMD 1 1003 ---101-2-1 Male Hemizygous FRANCE BMD 1 729 ---548-1-1 Male Hemizygous FRANCE BMD 1 730 ---548-0-1 Male Hemizygous FRANCE BMD 1 741 ---625-0-1 Male Hemizygous - BMD 1 796 ---033-0-1 Male Hemizygous - BMD 1 809 ---172-2-1 Male Hemizygous FRANCE BMD 1 810 ---172-3-1 Male Hemizygous FRANCE BMD 1 811 ---172-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 814 ---320-1-1 Male Hemizygous - BMD 1 2789 ---012-1-1 Male Hemizygous FRANCE BMD 1 1002 ---697-0-1 Male Hemizygous - BMD 1 1005 ---101-0-1 Male Hemizygous FRANCE IMD 1 1006 ---101-3-1 Male Hemizygous FRANCE BMD 1 1007 ---101-4-1 Male Hemizygous FRANCE IMD 1 1049 ---022-1-1 Male Hemizygous - BMD 1 1101 ---720-0-1 Male Hemizygous - BMD 1 1104 ---033-1-1 Male Hemizygous FRANCE BMD 1 1105 ---033-2-1 Male Hemizygous FRANCE BMD 1 1158 ---067-0-1 Male Hemizygous FRANCE BMD 1 1267 ---574-0-1 Male Hemizygous - BMD 1 1269 ---548-0-1 Male Hemizygous FRANCE BMD 1 1290 ---726-0-1 Male Hemizygous - BMD 1 1293 ---101-6-1 Male Hemizygous FRANCE Asymptomatic 1 1382 ---630-0-1 Male Hemizygous - BMD 1 1383 ---635-0-1 Male Hemizygous FRANCE BMD 1 2799 ---172-4-1 Male Hemizygous FRANCE BMD 1 2800 ---380-1-1 Male Hemizygous - BMD 1 2801 ---380-2-1 Male Hemizygous - BMD 1 2816 ---737-0-1 Male Hemizygous FRANCE BMD 1 2826 ---755-0-1 Male Hemizygous FRANCE BMD 1 2828 ---147-0-1 Male Hemizygous FRANCE BMD 1 2830 ---277-3-1 Male Hemizygous FRANCE BMD 1 2831 ---277-0-1 Male Hemizygous FRANCE BMD 1 2832 ---277-B-S011 Male Hemizygous FRANCE BMD 1 2945 ---012-1-1 Male Hemizygous FRANCE BMD 1 2955 ---172-4-1 Male Hemizygous FRANCE BMD 1 2956 ---380-1-1 Male Hemizygous - BMD 1 2957 ---380-2-1 Male Hemizygous - BMD 1 2972 ---737-0-1 Male Hemizygous FRANCE BMD 1 2982 ---755-0-1 Male Hemizygous FRANCE BMD 1 2984 ---147-0-1 Male Hemizygous FRANCE BMD 1 2986 ---277-3-1 Male Hemizygous FRANCE BMD 1 2987 ---277-0-1 Male Hemizygous FRANCE BMD 1 2988 ---277-B-S011 Male Hemizygous FRANCE BMD 1 2992 ---014-0-1 Male Hemizygous - BMD 1 2996 ---014-1-1 Male Hemizygous - BMD 1 2997 ---014-2-1 Male Hemizygous - BMD 1 3083 ---810-0-1 Male Hemizygous FRANCE BMD 1 3123 ---277-4-1 Male Hemizygous FRANCE BMD 1 3172 ---503-1-1 Male Hemizygous - BMD 1 3190 ---868-0-1 Male Hemizygous - BMD 1 3198 ---912-0-1 Male Hemizygous - Pending 1 3215 ---013-0-1 Male Hemizygous FRANCE BMD 1 3216 ---013-1-1 Male Hemizygous FRANCE BMD 1 3222 ---123-0-1 Male Hemizygous FRANCE BMD 1 3240 ---931-0-1 Male Hemizygous FRANCE BMD 1 3260 ---147-2-1 Male Hemizygous FRANCE BMD 1 3261 ---147-3-1 Male Hemizygous FRANCE BMD 1 3267 ---101-7-1 Male Hemizygous FRANCE BMD 1 3279 ---028-1-1 Male Hemizygous FRANCE BMD 1 3283 ---936-0-1 Male Hemizygous JORDAN BMD 1 3285 ---935-0-1 Male Hemizygous FRANCE BMD 1 3320 ---116-0-1 Male Hemizygous FRANCE BMD 1 3361 ---810-1-1 Male Hemizygous FRANCE BMD 1 3391 ---930-0-1 Male Hemizygous FRANCE DCM 1 3392 ---907-0-1 Male Hemizygous FRANCE BMD 1 3422 ---028-1-1 Male Hemizygous FRANCE BMD 1 3429 ---028-3-1 Male Hemizygous FRANCE BMD 1 3439 ---966-0-1 Male Hemizygous FRANCE BMD 1 3490 ---009-0-1 Male Hemizygous FRANCE BMD 1 3496 ---381-0-1 Male Hemizygous FRANCE BMD 1 3500 ---172-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3519 ---854-0-1 Male Hemizygous FRANCE BMD 1 3569 ---078-0-1 Male Hemizygous FRANCE BMD 1 3570 ---078-1-1 Male Hemizygous FRANCE BMD 1 3571 ---078-0-2 Male Heterozygous FRANCE Asymptomatic 1 2939 ---277-2-1 Male Hemizygous FRANCE BMD 1 2940 ---277-5-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2600 ---135-8-12 Female Heterozygous FRANCE Symptomatic carrier 106 2610 ---330-7-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1984 ---111-9-0941 Male Hemizygous FRANCE BMD 121 1993 ---344-0-381 Male Hemizygous FRANCE BMD 121 2034 ---016-0-71 Male Hemizygous FRANCE BMD 122 2035 ---016-0-81 Male Hemizygous FRANCE BMD 122 2052 ---052-0-61 Male Hemizygous FRANCE BMD 122 2078 ---008-8-m1 Male Hemizygous FRANCE BMD 114 2087 ---018-D-41 Male Hemizygous FRANCE Pending 114 2088 ---018-D-51 Male Hemizygous FRANCE Pending 114 2107 ---055-6-m1 Male Hemizygous FRANCE BMD 114 1500 ---043-2-81 Male Hemizygous FRANCE Pending 110 1521 ---002-3-11 Male Hemizygous FRANCE BMD 112 1523 ---004-1-41 Male Hemizygous FRANCE BMD 112 1525 ---006-4-51 Male Hemizygous FRANCE BMD 112 1528 ---009-8-81 Male Hemizygous FRANCE BMD 112 1529 ---010-0-41 Male Hemizygous FRANCE BMD 112 1531 ---012-6-91 Male Hemizygous FRANCE BMD 112 1538 ---020-7-01 Male Hemizygous FRANCE BMD 112 1545 ---028-9-81 Male Hemizygous FRANCE BMD 112 1870 ---091-3-21 Male Hemizygous FRANCE BMD 115 1871 ---091-9-11 Male Hemizygous FRANCE BMD 115 1896 ---121-0-81 Male Hemizygous FRANCE BMD 115 1899 ---124-8-11 Male Hemizygous FRANCE BMD 115 1914 ---053-7-m121 Male Hemizygous - BMD 113 1920 ---065-0-m221 Male Hemizygous - BMD 113 1921 ---066-0-m241 Male Hemizygous - BMD 113 1924 ---085-3-m271 Male Hemizygous - BMD 113 1936 ---039-2-61 Male Hemizygous FRANCE BMD 106 1937 ---039-2-61 Male Hemizygous FRANCE BMD 106 1938 ---045-2-21 Male Hemizygous FRANCE BMD 106 1965 ---046-2-61 Male Hemizygous FRANCE BMD 106 1970 ---053-3-61 Male Hemizygous FRANCE BMD 106 1972 ---056-3-51 Male Hemizygous FRANCE BMD 106 2141 ---091-9-m1 Male Hemizygous FRANCE BMD 114 2144 ---099-E-11 Male Hemizygous FRANCE BMD 114 2148 ---103-1-m1 Male Hemizygous FRANCE BMD 114 2150 ---105-1-m1 Male Hemizygous FRANCE BMD 114 2154 ---113-1-m1 Male Hemizygous FRANCE BMD 114 2156 ---118-C-41 Male Hemizygous FRANCE BMD 114 2159 ---122-X-61 Male Hemizygous FRANCE BMD 114 2160 ---122-B-31 Male Hemizygous FRANCE BMD 114 2161 ---122-B-81 Male Hemizygous FRANCE BMD 114 2162 ---122-B-111 Male Hemizygous FRANCE BMD 114 2163 ---122-X-01 Male Hemizygous FRANCE BMD 114 2164 ---122-X-41 Male Hemizygous FRANCE BMD 114 2171 ---131-C-11 Male Hemizygous FRANCE BMD 114 2172 ---131-C-71 Male Hemizygous FRANCE BMD 114 2173 ---131-Q-51 Male Hemizygous FRANCE BMD 114 2182 ---141-2-m1 Male Hemizygous FRANCE BMD 114 2186 ---158-5-m1 Male Hemizygous FRANCE BMD 114 2203 ---187-2-m1 Male Hemizygous FRANCE BMD 114 2213 ---200-G-11 Male Hemizygous FRANCE BMD 114 2226 ---222-8-m1 Male Hemizygous FRANCE BMD 114 2328 ---020-7-11 Male Hemizygous FRANCE BMD 112 2330 ---251-5-6271 Male Hemizygous FRANCE BMD 116 2331 ---251-5-7341 Male Hemizygous FRANCE BMD 116 2385 ---323-7-11 Male Hemizygous FRANCE BMD 106 2422 ---027-4-41 Male Hemizygous FRANCE Pending 126 2429 ---033-5-61 Male Hemizygous FRANCE Pending 126 2487 ---077-7-01 Male Hemizygous FRANCE BMD 127 2490 ---075-1-11 Male Hemizygous FRANCE BMD 127 2507 ---313-E-141 Male Hemizygous FRANCE BMD 121 2559 ---175-2-0061 Male Hemizygous FRANCE BMD 121 2567 ---172-9-0181 Male Hemizygous FRANCE BMD 121 2609 ---472-3-31 Male Hemizygous FRANCE BMD 106 2652 ---472-4-21 Male Hemizygous FRANCE BMD 106 2693 ---108-9-81 Male Hemizygous FRANCE BMD 115 2706 ---072-6-71 Male Hemizygous FRANCE BMD 110 2717 INDIA Symptomatic carrier 128 2720 ---060-2-81 Male Hemizygous FRANCE BMD 112 2773 ---198-5-0461 Male Hemizygous FRANCE BMD 121 1673 ---018-6-31 Male Hemizygous FRANCE BMD 112 1685 ---251-5-7271 Male Hemizygous FRANCE BMD 116 2333 ---251-5-6351 Male Hemizygous FRANCE BMD 116 1726 ---251-5-4751 Male Hemizygous FRANCE BMD 116 1797 ---272-2-5151 Male Hemizygous FRANCE BMD 116 420 ---256-0-1 Male Hemizygous FRANCE BMD 1 424 ---414-1-1 Male Hemizygous FRANCE BMD 1 426 ---414-0-1 Male Hemizygous FRANCE BMD 1 434 ---181-0-1 Male Hemizygous FRANCE BMD 9 462 ---016-0-1 Male Hemizygous FRANCE BMD 1 463 ---097-0-1 Male Hemizygous FRANCE BMD 1 464 ---134-0-1 Male Hemizygous FRANCE BMD 1 465 ---164-0-1 Male Hemizygous - BMD 1 466 ---190-0-1 Male Hemizygous FRANCE BMD 1 467 ---198-0-1 Male Hemizygous - BMD 1 468 ---218-0-1 Male Hemizygous FRANCE BMD 1 469 ---343-0-1 Male Hemizygous FRANCE BMD 1 470 ---451-0-1 Male Hemizygous FRANCE BMD 1 471 ---511-0-1 Male Hemizygous FRANCE BMD 1 482 ---427-0-1 Male Hemizygous FRANCE BMD 1 495 ---221-0-1 Male Hemizygous FRANCE BMD 1 497 ---170-0-1 Male Hemizygous FRANCE BMD 1 571 ---398-0-1 Male Hemizygous ALGERIA BMD 1 580 ---031-0-1 Male Hemizygous FRANCE BMD 1 581 ---077-0-1 Male Hemizygous FRANCE BMD 1 582 ---077-2-1 Male Hemizygous FRANCE BMD 1 583 ---091-0-1 Male Hemizygous FRANCE BMD 1 584 ---134-4-1 Male Hemizygous FRANCE BMD 1 585 ---134-0-1 Male Hemizygous FRANCE BMD 1 586 ---156-0-1 Male Hemizygous FRANCE BMD 1 587 ---161-1-1 Male Hemizygous FRANCE BMD 1 588 ---161-0-1 Male Hemizygous FRANCE BMD 1 589 ---199-0-1 Male Hemizygous FRANCE BMD 1 590 ---223-0-1 Male Hemizygous - BMD 1 591 ---243-0-1 Male Hemizygous - BMD 1 593 ---318-0-1 Male Hemizygous - BMD 1 594 ---392-0-1 Male Hemizygous - BMD 1 595 ---413-0-1 Male Hemizygous - BMD 1 596 ---426-0-1 Male Hemizygous - BMD 1 597 ---427-0-1 Male Hemizygous - BMD 1 598 ---434-0-1 Male Hemizygous - BMD 1 599 ---481-0-1 Male Hemizygous - BMD 1 600 ---484-0-1 Male Hemizygous - BMD 1 817 ---077-1-1 Male Hemizygous FRANCE BMD 1 867 ---657-0-1 Male Hemizygous - BMD 1 886 ---613-0-1 Male Hemizygous - BMD 1 1046 ---016-1-1 Male Hemizygous FRANCE BMD 1 1124 ---031-1-1 Male Hemizygous FRANCE BMD 1 1125 ---031-2-1 Male Hemizygous FRANCE BMD 1 1126 ---031-3-1 Male Hemizygous FRANCE BMD 1 1226 ---724-0-1 Male Hemizygous - BMD 1 1365 ---134-0-1 Male Hemizygous FRANCE BMD 1 1366 ---134-2-1 Male Hemizygous FRANCE BMD 1 1367 ---134-3-1 Male Hemizygous FRANCE BMD 1 1375 ---673-0-1 Male Hemizygous - BMD 1 2792 ---181-0-1 Male Hemizygous FRANCE BMD 9 2802 ---156-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2803 ---199-1-1 Male Hemizygous FRANCE BMD 1 2804 ---199-2-1 Male Hemizygous FRANCE BMD 1 1481 ---484-1-1 Male Hemizygous - BMD 1 2948 ---181-0-1 Male Hemizygous FRANCE BMD 9 2958 ---156-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2959 ---199-1-1 Male Hemizygous FRANCE BMD 1 2960 ---199-2-1 Male Hemizygous FRANCE BMD 1 3008 ---730-0-1 Male Hemizygous FRANCE BMD 1 3054 ---763-0-1 Male Hemizygous FRANCE BMD 1 3082 ---799-0-1 Male Hemizygous FRANCE BMD 1 3167 ---097-0-1 Male Hemizygous - BMD 1 3194 ---905-0-1 Male Hemizygous FRANCE BMD 1 3257 ---016-2-1 Male Hemizygous FRANCE BMD 1 3319 ---934-0-1 Male Hemizygous FRANCE BMD 1 3348 ---934-0-1 Male Hemizygous FRANCE BMD 1 3356 ---218-0-1 Male Hemizygous FRANCE BMD 1 3458 ---963-0-1 Male Hemizygous FRANCE BMD 1 3535 ---259-0-1 Male Hemizygous FRANCE BMD 1 2851 ---236-0-1 Male Hemizygous FRANCE BMD 1 2927 ---102-0-11 Male Hemizygous FRANCE BMD 1 2930 ---576-0-1 Male Hemizygous FRANCE BMD 1 2931 ---576-1-1 Male Hemizygous FRANCE BMD 1 2932 ---576-2-1 Male Hemizygous FRANCE Pending 1 2934 ---101-2-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1990 ---163-0-421 Male Hemizygous FRANCE BMD 121 1991 ---163-0-431 Male Hemizygous FRANCE BMD 121 1996 ---026-2-41 Male Hemizygous FRANCE BMD 117 2079 ---009-D-11 Male Hemizygous FRANCE BMD 114 2080 ---009-D-31 Male Hemizygous FRANCE BMD 114 1470 ---060-4-01 Male Hemizygous FRANCE BMD 110 1471 ---024-2-01 Male Hemizygous FRANCE BMD 110 2219 ---211-0-m1 Male Hemizygous FRANCE BMD 114 2418 ---024-3-31 Male Hemizygous FRANCE Pending 126 2755 ---108-9-81 Male Hemizygous FRANCE BMD 112 2781 ---998-1-4731 Male Hemizygous FRANCE BMD 117 241 ---463-0-1 Male Hemizygous - BMD 1 1721 ---285-0-011 Male Hemizygous FRANCE BMD 116 1722 ---285-0-701 Male Hemizygous FRANCE BMD 116 1747 ---285-0-731 Male Hemizygous FRANCE BMD 116 1789 ---285-0-511 Male Hemizygous FRANCE BMD 116 1790 ---285-0-821 Male Hemizygous FRANCE BMD 116 405 ---471-0-1 Male Hemizygous - BMD 1 472 ---036-0-1 Male Hemizygous FRANCE BMD 1 473 ---036-1-1 Male Hemizygous FRANCE BMD 1 474 ---439-0-1 Male Hemizygous FRANCE BMD 1 494 ---134-0-1 Male Hemizygous FRANCE BMD 1 601 ---044-0-1 Male Hemizygous - BMD 1 602 ---044-1-1 Male Hemizygous - BMD 1 603 ---044-2-1 Male Hemizygous - BMD 1 1143 ---044-3-1 Male Hemizygous - BMD 1 605 ---073-2-1 Male Hemizygous FRANCE BMD 1 606 ---181-0-1 Male Hemizygous - BMD 1 607 ---270-0-1 Male Hemizygous - BMD 1 608 ---273-0-1 Male Hemizygous - BMD 1 1164 ---073-0-1 Male Hemizygous FRANCE BMD 1 1165 ---073-1-1 Male Hemizygous FRANCE BMD 1 1350 ---181-1-1 Male Hemizygous - BMD 1 1371 ---178-0-1 Male Hemizygous FRANCE BMD 1 1385 ---650-0-1 Male Hemizygous - BMD 1 2793 ---439-1-1 Male Hemizygous FRANCE BMD 1 2949 ---439-1-1 Male Hemizygous FRANCE BMD 1 3232 ---813-0-1 Male Hemizygous ITALIA Pending 1 3254 ---098-0-1 Male Hemizygous FRANCE BMD 1 3263 ---073-3-1 Male Hemizygous FRANCE BMD 1 3281 ---918-0-1 Male Hemizygous FRANCE BMD 1 3286 ---903-0-1 Male Hemizygous FRANCE BMD 1 3287 ---903-1-1 Male Hemizygous FRANCE BMD 1 3440 ---073-4-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1752 ---149-1-1631 Male Hemizygous FRANCE DMD 116 1753 ---149-1-1671 Male Hemizygous FRANCE DMD 119 3407 ---158-0-1 Male Hemizygous FRANCE DMD 1 2432 ---158-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2019 ---820-1-8071 Male Hemizygous FRANCE DMD 117 2033 ---014-0-61 Male Hemizygous FRANCE DMD 122 2049 ---043-0-21 Male Hemizygous FRANCE DMD 122 1496 ---039-1-81 Male Hemizygous FRANCE DMD 110 1933 ---030-1-11 Male Hemizygous FRANCE DMD 106 1969 ---052-3-51 Male Hemizygous FRANCE DMD 106 2179 ---136-7-m1 Male Hemizygous FRANCE DMD 114 1824 ---033-8-51 Male Hemizygous FRANCE DMD 115 1825 ---034-3-41 Male Hemizygous FRANCE DMD 115 2337 ---C20-6-7291 Male Hemizygous FRANCE DMD 116 2342 ---219-0-M41 Male Hemizygous FRANCE Pending 121 2343 ---218-L-411 Male Hemizygous FRANCE DMD 121 2344 ---218-L-391 Male Hemizygous FRANCE DMD 121 2425 ---030-4-21 Male Hemizygous FRANCE Pending 126 2531 ---087-8-81 Male Hemizygous FRANCE Pending 126 2530 ---084-7-51 Male Hemizygous FRANCE Pending 126 2524 ---059-6-31 Male Hemizygous FRANCE DMD 127 2523 ---165-6-DA451 Male Hemizygous FRANCE DMD 121 2643 ---210-1-231 Male Hemizygous FRANCE DMD 115 2713 ---110-7-41 Male Hemizygous FRANCE DMD 112 2777 ---224-6-241 Male Hemizygous FRANCE DMD 115 83 ---085-0-1 Male Hemizygous - DMD 1 84 ---342-0-1 Male Hemizygous - DMD 1 242 ---019-0-1 Male Hemizygous FRANCE DMD 1 243 ---064-0-1 Male Hemizygous FRANCE DMD 1 245 ---148-0-1 Male Hemizygous - DMD 1 246 ---177-0-1 Male Hemizygous - DMD 1 247 ---194-0-1 Male Hemizygous - DMD 1 248 ---195-0-1 Male Hemizygous FRANCE DMD 1 249 ---242-0-1 Male Hemizygous FRANCE DMD 1 250 ---475-0-1 Male Hemizygous FRANCE DMD 1 1645 ---090-6-11 Male Hemizygous FRANCE DMD 106 1681 ---219-3-4521 Male Hemizygous FRANCE DMD 116 1699 ---154-2-0041 Male Hemizygous FRANCE DMD 116 1766 ---271-5-5111 Male Hemizygous FRANCE DMD 116 1772 ---C56-0-431 Male Hemizygous FRANCE DMD 116 1800 ---003-7-01 Male Hemizygous FRANCE DMD 115 1813 ---019-1-61 Male Hemizygous FRANCE DMD 115 1814 ---019-1-01 Male Hemizygous FRANCE DMD 115 1037 ---553-0-1 Male Hemizygous FRANCE DMD 1 1040 ---601-0-1 Male Hemizygous FRANCE DMD 1 1045 ---666-0-1 Male Hemizygous FRANCE DMD 1 1061 ---705-0-1 Male Hemizygous LEIBANON DMD 1 1289 ---732-0-1 Male Hemizygous FRANCE DMD 1 1579 ---747-0-1 Male Hemizygous FRANCE DMD 1 3012 ---079-0-1 Male Hemizygous - DMD 1 1714 ---104-0-1 Male Hemizygous FRANCE DMD 1 3186 ---865-0-1 Male Hemizygous - DMD 1 3196 ---908-0-1 Male Hemizygous FRANCE DMD 1 3282 ---942-0-1 Male Hemizygous FRANCE DMD 1 3369 ---853-0-1 Male Hemizygous ITALIA DMD 1 3374 ---024-0-1 Male Hemizygous FRANCE DMD 1 3379 ---065-0-1 Male Hemizygous FRANCE DMD 1 2440 ---130-0-1 Male Hemizygous FRANCE DMD 1 3465 ---977-0-1 Male Hemizygous ROMANIA DMD 1 3501 ---435-0-1 Male Hemizygous FRANCE DMD 1 2937 ---102-9-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3409 ---081-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2006 ---102-1-30541 Male Hemizygous FRANCE Pending 117 1490 ---032-3-81 Male Hemizygous FRANCE BMD 110 2133 ---078-3-m1 Male Hemizygous FRANCE BMD 114 1823 ---032-3-81 Male Hemizygous FRANCE DMD 115 1837 ---047-1-11 Male Hemizygous FRANCE Pending 115 2319 ---051-6-81 Male Hemizygous FRANCE BMD 112 2538 ---450-2-61 Male Hemizygous FRANCE BMD 106 2526 ---068-6-41 Male Hemizygous FRANCE Pending 126 2629 ---002-0-21 Male Hemizygous FRANCE BMD 128 2649 ---503-4-71 Male Hemizygous FRANCE Pending 106 421 ---346-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2008 ---143-8-86611 Male Hemizygous FRANCE DMD 117 2074 ---003-0-m1 Male Hemizygous FRANCE DMD 114 1498 ---041-2-71 Male Hemizygous FRANCE DMD 110 1578 ---186-0-81 Male Hemizygous LEIBANON DMD 106 1867 ---088-0-91 Male Hemizygous FRANCE Pending 115 1868 ---088-0-31 Male Hemizygous FRANCE Pending 115 1884 ---105-2-61 Male Hemizygous FRANCE Pending 115 1948 ---062-3-51 Male Hemizygous FRANCE DMD 106 1966 ---047-2-31 Male Hemizygous FRANCE DMD 106 2200 ---178-1-m1 Male Hemizygous FRANCE DMD 114 1832 ---042-4-81 Male Hemizygous FRANCE DMD 115 2359 ---186-1-01 Male Hemizygous LEIBANON DMD 106 2368 ---079-A-31 Male Hemizygous FRANCE DMD 114 2392 ---426-1-91 Male Hemizygous FRANCE DMD 106 2506 ---733-L-681 Male Hemizygous FRANCE DMD 121 2520 ---155-5-CD941 Male Hemizygous FRANCE DMD 121 2635 ---008-0-81 Male Hemizygous FRANCE DMD 128 3 ---141-0-2 Female Heterozygous FRANCE Symptomatic carrier 11 77 ---036-0-1 Male Hemizygous - DMD 1 85 ---065-0-1 Male Hemizygous - DMD 1 86 ---140-0-1 Male Hemizygous - DMD 1 87 ---224-0-1 Male Hemizygous - DMD 1 88 ---413-0-1 Male Hemizygous - DMD 1 252 ---036-0-1 Male Hemizygous FRANCE DMD 1 253 ---067-0-1 Male Hemizygous - DMD 1 254 ---068-0-1 Male Hemizygous - DMD 1 255 ---087-0-1 Male Hemizygous FRANCE DMD 1 256 ---170-0-1 Male Hemizygous - DMD 1 257 ---174-0-1 Male Hemizygous - DMD 1 258 ---183-0-1 Male Hemizygous FRANCE DMD 1 259 ---189-0-1 Male Hemizygous - DMD 119 260 ---323-0-1 Male Hemizygous - DMD 1 261 ---410-0-1 Male Hemizygous - DMD 1 262 ---461-0-1 Male Hemizygous FRANCE DMD 1 263 ---507-0-1 Male Hemizygous - DMD 1 264 ---517-0-1 Male Hemizygous - DMD 1 1718 ---C60-0-651 Male Hemizygous FRANCE DMD 116 1780 ---218-6-3991 Male Hemizygous FRANCE DMD 116 1811 ---017-8-71 Male Hemizygous FRANCE DMD 115 986 ---650-0-1 Male Hemizygous - DMD 1 1041 ---615-0-1 Male Hemizygous - DMD 1 1060 ---704-0-1 Male Hemizygous - DMD 1 1079 ---710-0-1 Male Hemizygous - DMD 1 1080 ---710-1-1 Male Hemizygous - DMD 1 1127 ---036-1-1 Male Hemizygous - DMD 1 1155 ---065-1-1 Male Hemizygous - DMD 1 3185 ---865-0-1 Male Hemizygous - DMD 1 3228 ---049-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2013 ---172-2-22971 Male Hemizygous FRANCE BMD 117 1485 ---019-4-81 Male Hemizygous FRANCE BMD 110 1522 ---003-9-31 Male Hemizygous FRANCE BMD 112 1549 ---032-4-71 Male Hemizygous FRANCE Pending 112 1879 ---100-7-01 Male Hemizygous FRANCE BMD 115 1889 ---112-3-71 Male Hemizygous FRANCE BMD 115 1895 ---120-6-01 Male Hemizygous FRANCE BMD 115 1939 ---031-1-71 Male Hemizygous FRANCE BMD 106 1940 ---031-1-91 Male Hemizygous FRANCE BMD 106 1941 ---031-2-31 Male Hemizygous FRANCE BMD 106 1942 ---031-1-61 Male Hemizygous FRANCE BMD 106 2117 ---050-5-81 Male Hemizygous FRANCE BMD 110 2151 ---109-2-m1 Male Hemizygous FRANCE BMD 114 2594 ---CM1-0-21 Male Hemizygous FRANCE BMD 106 2465 ---019-4-41 Male Hemizygous FRANCE BMD 127 2568 ---172-0-0481 Male Hemizygous FRANCE BMD 121 2678 ---536-6-21 Male Hemizygous FRANCE BMD 106 2763 ---528-5-81 Male Hemizygous FRANCE BMD 106 2784 ---010-6-m201 Male Hemizygous FRANCE BMD 113 2572 ---818-0-851 Male Hemizygous FRANCE BMD 116 1816 ---022-1-41 Male Hemizygous FRANCE BMD 115 427 ---115-0-1 Male Hemizygous - BMD 1 428 ---435-0-1 Male Hemizygous FRANCE BMD 1 475 ---117-0-1 Male Hemizygous - BMD 1 476 ---158-0-1 Male Hemizygous - BMD 1 477 ---189-0-1 Male Hemizygous FRANCE BMD 1 478 ---233-0-1 Male Hemizygous FRANCE BMD 1 610 ---027-1-1 Male Hemizygous FRANCE BMD 1 611 ---218-1-1 Male Hemizygous - BMD 1 612 ---218-0-1 Male Hemizygous - BMD 1 613 ---411-0-1 Male Hemizygous FRANCE BMD 1 614 ---412-0-1 Male Hemizygous - BMD 1 615 ---412-1-1 Male Hemizygous - BMD 1 616 ---488-0-1 Male Hemizygous - BMD 1 697 ---555-0-1 Male Hemizygous FRANCE BMD 1 757 ---666-0-1 Male Hemizygous FRANCE BMD 1 788 ---218-2-1 Male Hemizygous - BMD 1 977 ---555-1-1 Male Hemizygous FRANCE BMD 1 978 ---555-2-1 Male Hemizygous FRANCE BMD 1 979 ---555-3-1 Male Hemizygous FRANCE BMD 1 1076 ---027-0-1 Male Hemizygous FRANCE BMD 1 1077 ---027-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2794 ---158-1-1 Male Hemizygous - BMD 1 2950 ---158-1-1 Male Hemizygous - BMD 1 3047 ---752-0-1 Male Hemizygous FRANCE BMD 1 3048 ---332-0-1 Male Hemizygous FRANCE BMD 1 3173 ---555-4-1 Male Hemizygous FRANCE BMD 1 3174 ---555-5-1 Male Hemizygous FRANCE BMD 1 3431 ---325-0-1 Male Hemizygous FRANCE IMD 1 3582 ---666-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1512 ---132-8-51 Male Hemizygous LEIBANON DMD 106 1513 ---132-8-61 Male Hemizygous LEIBANON DMD 106 1574 ---180-0-41 Male Hemizygous FRANCE DMD 106 1869 ---090-0-71 Male Hemizygous FRANCE Pending 115 2140 ---090-F-11 Male Hemizygous FRANCE DMD 114 2196 ---172-8-m1 Male Hemizygous FRANCE Pending 114 2235 ---234-5-m1 Male Hemizygous FRANCE DMD 114 2366 ---053-9-m1 Male Hemizygous FRANCE DMD 114 89 ---039-0-1 Male Hemizygous FRANCE DMD 119 265 ---088-0-1 Male Hemizygous - DMD 1 266 ---088-1-1 Male Hemizygous - DMD 1 267 ---174-0-1 Male Hemizygous - DMD 1 268 ---190-0-1 Male Hemizygous - DMD 1 1697 ---157-2-0031 Male Hemizygous FRANCE DMD 116 1134 ---039-1-1 Male Hemizygous - DMD 1 2818 ---750-0-1 Male Hemizygous - DMD 1 2974 ---750-0-1 Male Hemizygous - DMD 1 3042 ---800-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1533 ---014-6-81 Male Hemizygous FRANCE BMD 112 1557 ---121-7-21 Male Hemizygous FRANCE BMD 106 1583 ---199-1-21 Male Hemizygous FRANCE BMD 106 1599 ---241-3-81 Male Hemizygous FRANCE BMD 106 1874 ---095-1-01 Male Hemizygous FRANCE BMD 115 1903 ---015-0-31 Male Hemizygous - BMD 113 1917 ---059-0-m011 Male Hemizygous - BMD 113 1976 ---111-6-71 Male Hemizygous FRANCE BMD 106 1977 ---111-8-21 Male Hemizygous FRANCE BMD 106 2221 ---213-9-m1 Male Hemizygous FRANCE BMD 114 2334 ---289-1-7461 Male Hemizygous FRANCE BMD 116 2547 ---106-4-0431 Male Hemizygous FRANCE Pending 121 2546 ---113-5-0181 Male Hemizygous FRANCE BMD 121 2455 ---241-1-71 Male Hemizygous FRANCE BMD 106 2456 ---082-0-41 Male Hemizygous FRANCE BMD 122 2471 ---069-0-21 Male Hemizygous FRANCE BMD 127 2615 ---201-5-681 Male Hemizygous FRANCE BMD 115 2616 ---201-4-351 Male Hemizygous FRANCE BMD 115 2646 ---009-0-91 Male Hemizygous FRANCE BMD 128 2776 ---232-6-751 Male Hemizygous FRANCE Pending 115 2779 ---212-6-341 Male Hemizygous FRANCE BMD 115 1639 ---078-5-41 Male Hemizygous FRANCE BMD 106 1640 ---078-5-51 Male Hemizygous FRANCE BMD 106 1745 ---289-1-5601 Male Hemizygous FRANCE BMD 116 1787 ---289-1-5731 Male Hemizygous FRANCE BMD 116 425 ---229-0-1 Male Hemizygous FRANCE Asymptomatic 1 429 ---054-0-1 Male Hemizygous FRANCE BMD 1 430 ---228-0-1 Male Hemizygous FRANCE BMD 1 431 ---228-1-1 Male Hemizygous FRANCE BMD 1 479 ---191-0-1 Male Hemizygous FRANCE BMD 1 480 ---390-0-1 Male Hemizygous FRANCE BMD 1 481 ---507-0-1 Male Hemizygous FRANCE BMD 1 617 ---235-0-1 Male Hemizygous - BMD 1 618 ---255-0-1 Male Hemizygous FRANCE BMD 1 619 ---255-2-1 Male Hemizygous FRANCE BMD 1 620 ---387-0-1 Male Hemizygous FRANCE BMD 1 621 ---424-0-1 Male Hemizygous FRANCE BMD 1 622 ---466-0-1 Male Hemizygous FRANCE BMD 1 813 ---255-1-1 Male Hemizygous FRANCE BMD 1 1097 ---692-0-1 Male Hemizygous FRANCE BMD 1 1264 ---467-0-1 Male Hemizygous FRANCE BMD 1 1377 ---452-0-1 Male Hemizygous - BMD 1 1378 ---452-1-1 Male Hemizygous - BMD 1 1379 ---452-2-1 Male Hemizygous - BMD 1 1380 ---452-3-1 Male Hemizygous - BMD 1 1381 ---452-4-1 Male Hemizygous - BMD 1 2795 ---507-1-1 Male Hemizygous FRANCE BMD 1 2951 ---507-1-1 Male Hemizygous FRANCE BMD 1 3193 ---893-0-1 Male Hemizygous - BMD 1 3256 ---191-1-1 Male Hemizygous FRANCE BMD 1 3284 ---637-0-1 Male Hemizygous FRANCE BMD 1 3346 ---255-3-1 Male Hemizygous FRANCE BMD 1 3358 ---235-1-1 Male Hemizygous FRANCE BMD 1 2868 ---957-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1741 ---157-9-3101 Male Hemizygous FRANCE Pending 116 3408 ---015-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3188 ---866-0-1 Male Hemizygous ITALIA DMD 1 2708 ---067-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2683 ---218-2-701 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1635 ---141-6-21 Male Hemizygous FRANCE DMD 106
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 Mutation status Geographic origin Phenotypic group References 1247 ---152-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1467 ---002-3-41 Male Hemizygous FRANCE DMD 110 90 ---220-0-1 Male Hemizygous - DMD 1 269 ---255-0-1 Male Hemizygous - DMD 1 270 ---255-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2021 ---515-5-4951 Male Hemizygous FRANCE DMD 117 2103 ---046-4-m1 Male Hemizygous FRANCE DMD 114 1510 ---136-8-01 Male Hemizygous FRANCE DMD 106 1550 ---033-0-81 Male Hemizygous FRANCE DMD 112 1589 ---210-2-41 Male Hemizygous FRANCE DMD 106 1901 ---002-7-m151 Male Hemizygous - Pending 113 2218 ---208-A-31 Male Hemizygous FRANCE DMD 114 1827 ---036-3-01 Male Hemizygous FRANCE DMD 115 1830 ---040-2-81 Male Hemizygous FRANCE DMD 115 1849 ---059-5-01 Male Hemizygous FRANCE DMD 115 2378 ---237-9-MA1 Male Hemizygous FRANCE Pending 114 2379 ---237-9-MA1 Male Hemizygous FRANCE Pending 114 2517 ---146-9-BF431 Male Hemizygous TUNISIA DMD 121 2564 ---858-0-851 Male Hemizygous FRANCE DMD 121 2680 ---545-6-51 Male Hemizygous FRANCE DMD 106 17 ---521-0-1 Male Hemizygous - DMD 1 91 ---153-0-1 Male Hemizygous - DMD 1 92 ---180-0-1 Male Hemizygous FRANCE DMD 1 93 ---374-0-1 Male Hemizygous - DMD 1 272 ---034-0-1 Male Hemizygous - DMD 1 273 ---047-0-1 Male Hemizygous - DMD 1 274 ---069-0-1 Male Hemizygous - DMD 1 276 ---178-0-1 Male Hemizygous - DMD 1 1684 ---204-1-3161 Male Hemizygous FRANCE DMD 119 863 ---636-0-1 Male Hemizygous - DMD 1 898 ---663-0-1 Male Hemizygous - DMD 1 1351 ---660-0-1 Male Hemizygous - DMD 1 2822 ---751-0-1 Male Hemizygous - DMD 1 2978 ---751-0-1 Male Hemizygous - DMD 1 3050 ---078-0-1 Male Hemizygous - DMD 1 3180 ---812-0-1 Male Hemizygous FRANCE DMD 1 3184 ---865-0-1 Male Hemizygous - DMD 1 3278 ---073-0-1 Male Hemizygous FRANCE DMD 1 3395 ---950-0-1 Male Hemizygous FRANCE Pending 1 3529 ---981-0-1 Male Hemizygous FRANCE DMD 1 3585 ---021-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2446 ---052-6-21 Male Hemizygous FRANCE Pending 126 154 ---062-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2083 ---014-0-m1 Male Hemizygous FRANCE DMD 114 2101 ---042-F-11 Male Hemizygous FRANCE DMD 114 2104 ---047-2-MA1 Male Hemizygous FRANCE Pending 114 1497 ---040-0-31 Male Hemizygous FRANCE DMD 110 1847 ---057-0-301 Male Hemizygous FRANCE DMD 115 2494 ---063-5-61 Male Hemizygous FRANCE DMD 110 2499 ---202-D-201 Male Hemizygous FRANCE DMD 121 2733 ---080-8-01 Male Hemizygous FRANCE DMD 112 94 ---231-0-1 Male Hemizygous - DMD 1 277 ---137-0-1 Male Hemizygous - DMD 119 279 ---283-0-1 Male Hemizygous - DMD 1 280 ---310-0-1 Male Hemizygous SAUDI ARABIA DMD 1 896 ---142-0-1 Male Hemizygous - DMD 1 2813 ---637-0-1 Male Hemizygous - DMD 1 2969 ---637-0-1 Male Hemizygous - DMD 1 1749 ---060-0-1 Male Hemizygous - DMD 1 3182 ---854-0-2 Female Heterozygous - Symptomatic carrier 1 3197 ---908-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2131 ---070-C-21 Male Hemizygous FRANCE DMD 114 2153 ---111-9-m1 Male Hemizygous FRANCE DMD 114 2470 ---018-1-81 Male Hemizygous FRANCE DMD 127 2566 ---170-6-0681 Male Hemizygous FRANCE DMD 121 2674 ---814-7-8041 Male Hemizygous FRANCE DMD 116 1096 ---113-0-1 Male Hemizygous - DMD 1 283 ---127-0-1 Male Hemizygous - DMD 1 284 ---306-0-1 Male Hemizygous - DMD 1 285 ---309-0-1 Male Hemizygous - DMD 1 734 ---601-0-1 Male Hemizygous - DMD 1 1035 ---542-0-1 Male Hemizygous - DMD 1 1389 ---032-0-1 Male Hemizygous - DMD 1 3043 ---777-0-1 Male Hemizygous - DMD 1 3351 ---072-0-1 Male Hemizygous FRANCE DMD 1 2838 ---104-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2089 ---019-9-m1 Male Hemizygous FRANCE DMD 114 2099 ---038-6-A1 Male Hemizygous FRANCE DMD 114 2438 ---043-5-81 Male Hemizygous FRANCE Pending 126 2685 ---221-2-021 Male Hemizygous FRANCE DMD 115 2785 ---114-d-091 Male Hemizygous FRANCE Pending 113 96 ---241-0-1 Male Hemizygous - DMD 1 97 ---358-0-1 Male Hemizygous - DMD 1 98 ---531-0-1 Male Hemizygous ALGERIA DMD 1 286 ---084-0-1 Male Hemizygous - DMD 1 287 ---195-0-1 Male Hemizygous - DMD 1 288 ---308-0-1 Male Hemizygous - DMD 1 299 ---092-0-1 Male Hemizygous - DMD 119 300 ---259-0-1 Male Hemizygous - DMD 1 1652 ---068-4-21 Male Hemizygous FRANCE DMD 106 1688 ---C24-0-821 Male Hemizygous FRANCE DMD 116 1808 ---014-1-51 Male Hemizygous FRANCE DMD 115 1810 ---016-1-381 Male Hemizygous FRANCE DMD 115 1812 ---018-0-41 Male Hemizygous FRANCE Pending 115 742 ---389-0-1 Male Hemizygous - DMD 1 887 ---639-0-1 Male Hemizygous - DMD 1 3124 ---829-0-1 Male Hemizygous FRANCE IMD 1 3169 ---166-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1982 ---134-1-0461 Male Hemizygous FRANCE DMD 121 1997 ---113-0-69841 Male Hemizygous FRANCE DMD 117 2014 ---169-7-20161 Male Hemizygous FRANCE DMD 117 2015 ---164-1-13461 Male Hemizygous FRANCE DMD 117 2100 ---041-F-21 Male Hemizygous FRANCE DMD 114 1473 ---026-4-61 Male Hemizygous FRANCE DMD 110 2228 ---225-8-m1 Male Hemizygous FRANCE DMD 114 2229 ---225-8-m1 Male Hemizygous FRANCE DMD 114 1835 ---045-4-01 Male Hemizygous FRANCE DMD 115 2462 ---084-1-21 Male Hemizygous FRANCE DMD 127 2498 ---203-D-661 Male Hemizygous FRANCE DMD 121 2756 ---109-6-71 Male Hemizygous FRANCE DMD 112 2780 ---407-4-06691 Male Hemizygous FRANCE DMD 117 99 ---144-0-1 Male Hemizygous - DMD 1 100 ---354-0-1 Male Hemizygous - DMD 1 101 ---423-0-1 Male Hemizygous FRANCE DMD 1 290 ---045-0-1 Male Hemizygous - DMD 1 291 ---074-0-1 Male Hemizygous - DMD 1 292 ---077-0-1 Male Hemizygous FRANCE DMD 1 293 ---273-0-1 Male Hemizygous - DMD 1 294 ---440-0-1 Male Hemizygous - DMD 1 1773 ---149-4-1591 Male Hemizygous FRANCE DMD 119 1774 ---149-4-1601 Male Hemizygous FRANCE DMD 116 1819 ---028-2-51 Male Hemizygous FRANCE DMD 115 1171 ---074-1-1 Male Hemizygous - DMD 1 1216 ---045-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1556 ---120-7-91 Male Hemizygous FRANCE DMD 106 1904 ---017-0-41 Male Hemizygous - DMD 113 1963 ---025-1-11 Male Hemizygous FRANCE DMD 106 1848 ---058-0-91 Male Hemizygous FRANCE DMD 115 102 ---145-0-1 Male Hemizygous FRANCE DMD 1 103 ---196-0-1 Male Hemizygous - DMD 1 296 ---245-0-1 Male Hemizygous - DMD 1 1029 ---175-0-1 Male Hemizygous - DMD 1 3096 ---836-0-1 Male Hemizygous - DMD 1 3187 ---865-0-1 Male Hemizygous - DMD 1 1988 ---876-0-1 Male Hemizygous FRANCE DMD 1 3329 ---523-0-1 Male Hemizygous FRANCE DMD 1 3456 ---974-0-1 Male Hemizygous FRANCE DMD 1 3495 ---979-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1918 ---060-0-m111 Male Hemizygous - DMD 113 2137 ---086-0-A1 Male Hemizygous FRANCE DMD 114 104 ---313-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 105 ---185-0-1 Male Hemizygous - DMD 1 1707 ---224-2-4141 Male Hemizygous FRANCE DMD 119 1731 ---833-0-881 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2168 ---128-E-41 Male Hemizygous FRANCE DMD 114 2169 ---128-E-81 Male Hemizygous FRANCE DMD 114
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 Mutation status Geographic origin Phenotypic group References 1857 ---068-6-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2365 ---026-8-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1695 ---259-9-4932 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2145 ---100-8-m1 Male Hemizygous FRANCE DMD 114 7 ---290-0-2 Female Heterozygous - Symptomatic carrier 1 301 ---432-0-1 Male Hemizygous FRANCE DMD 1 2805 ---290-1-2 Female Heterozygous - Symptomatic carrier 1 2961 ---290-1-2 Female Heterozygous - 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 Mutation status Geographic origin Phenotypic group References 2632 ---005-0-51 Male Hemizygous FRANCE Pending 128 1817 ---026-9-01 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2001 ---751-1-7741 Male Hemizygous FRANCE DMD 117 2402 ---009-0-81 Male Hemizygous FRANCE Pending 126 2411 ---015-1-41 Male Hemizygous FRANCE Pending 126 302 ---026-0-1 Male Hemizygous - DMD 1 1717 ---157-2-2341 Male Hemizygous FRANCE DMD 119
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 Mutation status Geographic origin Phenotypic group References 2023 ---362-9-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1986 ---759-0-141 Male Hemizygous FRANCE Pending 121 2327 ---062-5-01 Male Hemizygous FRANCE BMD 110 1551 ---035-9-01 Male Hemizygous FRANCE BMD 112 1877 ---098-0-61 Male Hemizygous FRANCE BMD 115 1890 ---114-6-11 Male Hemizygous FRANCE BMD 115 1922 ---068-1-m031 Male Hemizygous - BMD 113 1923 ---068-1-m041 Male Hemizygous - BMD 113 2199 ---177-0-m1 Male Hemizygous FRANCE BMD 114 2533 ---092-8-01 Male Hemizygous FRANCE Pending 126 2501 ---190-I-521 Male Hemizygous FRANCE BMD 121 2648 ---504-4-01 Male Hemizygous FRANCE Pending 106 2651 ---490-4-71 Male Hemizygous FRANCE BMD 106 2736 ---083-0-51 Male Hemizygous FRANCE BMD 112 2769 ---552-6-21 Male Hemizygous FRANCE BMD 106 1682 ---155-8-2131 Male Hemizygous FRANCE BMD 116 3181 ---825-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2017 ---130-7-07141 Male Hemizygous FRANCE BMD 117 2053 ---053-0-71 Male Hemizygous FRANCE BMD 122 1530 ---011-1-11 Male Hemizygous FRANCE BMD 112 1532 ---013-5-11 Male Hemizygous FRANCE BMD 112 1883 ---104-2-31 Male Hemizygous FRANCE BMD 115 1926 ---093-4-m101 Male Hemizygous - BMD 113 1973 ---058-3-11 Male Hemizygous FRANCE BMD 106 2345 ---183-D-931 Male Hemizygous FRANCE BMD 121 2528 ---072-7-11 Male Hemizygous FRANCE BMD 126 2514 ---135-7-AJ781 Male Hemizygous FRANCE BMD 121 2515 ---135-7-BC871 Male Hemizygous FRANCE Pending 121 2516 ---135-7-BC921 Male Hemizygous FRANCE Pending 121 2621 ---208-0-621 Male Hemizygous FRANCE BMD 115 2641 ---208-0-621 Male Hemizygous FRANCE BMD 115 2631 ---004-0-41 Male Hemizygous FRANCE BMD 128 2723 ---063-1-01 Male Hemizygous FRANCE BMD 112 417 ---160-0-1 Male Hemizygous FRANCE BMD 1 483 ---106-1-1 Male Hemizygous FRANCE BMD 1 484 ---106-0-1 Male Hemizygous FRANCE BMD 1 485 ---175-0-1 Male Hemizygous FRANCE BMD 1 486 ---297-0-1 Male Hemizygous FRANCE BMD 1 487 ---399-0-1 Male Hemizygous FRANCE BMD 1 488 ---399-1-1 Male Hemizygous FRANCE BMD 1 624 ---337-0-1 Male Hemizygous FRANCE BMD 1 625 ---361-0-1 Male Hemizygous - BMD 1 626 ---440-0-1 Male Hemizygous - BMD 1 840 ---186-0-1 Male Hemizygous FRANCE BMD 1 841 ---186-1-1 Male Hemizygous FRANCE BMD 1 1358 ---734-0-1 Male Hemizygous FRANCE BMD 1 2796 ---175-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2812 ---106-2-1 Male Hemizygous FRANCE Asymptomatic 1 2952 ---175-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2968 ---106-2-1 Male Hemizygous FRANCE Asymptomatic 1 3195 ---907-0-1 Male Hemizygous FRANCE BMD 1 3211 ---650-0-1 Male Hemizygous FRANCE BMD 1 3366 ---907-1-1 Male Hemizygous FRANCE BMD 1 3459 ---978-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 16 ---474-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1992 ---344-0-451 Male Hemizygous FRANCE DMD 121 1998 ---466-6-081 Male Hemizygous FRANCE DMD 117 2003 ---134-2-74151 Male Hemizygous FRANCE DMD 117 2069 ---084-0-71 Male Hemizygous FRANCE DMD 122 2093 ---021-C-11 Male Hemizygous FRANCE DMD 114 2111 ---060-8-m1 Male Hemizygous FRANCE DMD 114 1469 ---005-3-21 Male Hemizygous FRANCE DMD 110 1601 ---244-3-91 Male Hemizygous FRANCE DMD 106 1971 ---055-3-51 Male Hemizygous FRANCE DMD 106 2180 ---139-8-m1 Male Hemizygous FRANCE DMD 114 1842 ---052-1-11 Male Hemizygous FRANCE IMD 115 1854 ---065-8-81 Male Hemizygous FRANCE DMD 115 2427 ---031-5-01 Male Hemizygous FRANCE Pending 126 2527 ---069-6-51 Male Hemizygous FRANCE Pending 126 2509 ---640-G-321 Male Hemizygous FRANCE DMD 121 2511 ---749-A-B681 Male Hemizygous FRANCE DMD 121 2697 ---227-2-742 Female Heterozygous FRANCE Symptomatic carrier 115 2728 ---070-6-41 Male Hemizygous FRANCE DMD 112 2734 ---081-2-61 Male Hemizygous FRANCE DMD 112 2739 ---088-0-01 Male Hemizygous FRANCE DMD 112 2744 ---099-5-31 Male Hemizygous FRANCE DMD 112 2747 ---094-6-41 Male Hemizygous FRANCE DMD 112 2765 ---520-5-32 Female Heterozygous FRANCE Symptomatic carrier 106 8 ---358-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 11 ---072-0-1 Male Hemizygous FRANCE DMD 1 106 ---089-0-1 Male Hemizygous FRANCE DMD 1 107 ---124-0-1 Male Hemizygous FRANCE DMD 1 108 ---145-0-1 Male Hemizygous - DMD 1 109 ---189-0-1 Male Hemizygous FRANCE DMD 119 110 ---237-0-1 Male Hemizygous - DMD 1 111 ---301-0-1 Male Hemizygous - DMD 1 271 ---016-0-1 Male Hemizygous FRANCE DMD 1 304 ---077-0-1 Male Hemizygous - DMD 1 305 ---124-0-1 Male Hemizygous - DMD 1 306 ---298-0-1 Male Hemizygous - DMD 1 307 ---298-1-1 Male Hemizygous - DMD 1 308 ---347-0-1 Male Hemizygous FRANCE DMD 1 309 ---495-0-1 Male Hemizygous - DMD 1 310 ---503-0-1 Male Hemizygous FRANCE DMD 1 311 ---516-0-1 Male Hemizygous ALGERIA DMD 1 1659 ---014-0-51 Male Hemizygous FRANCE DMD 106 1660 ---014-0-61 Male Hemizygous FRANCE DMD 106 1691 ---162-1-0011 Male Hemizygous FRANCE DMD 116 937 ---072-1-1 Male Hemizygous FRANCE DMD 1 939 ---124-1-1 Male Hemizygous FRANCE DMD 1 941 ---124-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 981 ---685-0-1 Male Hemizygous FRANCE DMD 1 1047 ---016-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 1048 ---016-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 1093 ---717-0-1 Male Hemizygous FRANCE DMD 1 1748 ---735-0-1 Male Hemizygous FRANCE DMD 1 3052 ---809-0-1 Male Hemizygous FRANCE DMD 1 3165 ---030-0-1 Male Hemizygous - DMD 1 3300 ---132-0-1 Male Hemizygous FRANCE DMD 1 3344 ---914-0-1 Male Hemizygous FRANCE DMD 1 3457 ---964-0-1 Male Hemizygous FRANCE DMD 1 3531 ---072-2-1 Male Hemizygous FRANCE Pending 1 3542 ---302-0-1 Male Hemizygous FRANCE DMD 1 3556 ---100-7-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2718 ---002-5-11 Male Hemizygous FRANCE DMD 106 686 ---500-0-1 Male Hemizygous - DMD 1 687 ---500-1-1 Male Hemizygous - DMD 1 3339 ---900-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2472 ---048-6-41 Male Hemizygous FRANCE BMD 127 432 ---179-0-1 Male Hemizygous FRANCE BMD 1 433 ---444-0-1 Male Hemizygous FRANCE BMD 1 489 ---414-0-1 Male Hemizygous FRANCE BMD 1 3562 ---996-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1995 ---258-1-37211 Male Hemizygous FRANCE DMD 117 1855 ---066-1-31 Male Hemizygous FRANCE DMD 115 1865 ---076-9-61 Male Hemizygous FRANCE DMD 115 1906 ---024-0-61 Male Hemizygous - DMD 113 2184 ---156-E-21 Male Hemizygous FRANCE DMD 114 2208 ---195-D-21 Male Hemizygous FRANCE DMD 114 1840 ---050-1-71 Male Hemizygous FRANCE DMD 115 1844 ---054-5-01 Male Hemizygous FRANCE DMD 115 1850 ---060-1-921 Male Hemizygous FRANCE DMD 115 2423 ---028-4-31 Male Hemizygous FRANCE Pending 126 2483 ---062-6-91 Male Hemizygous FRANCE DMD 127 2508 ---284-E-851 Male Hemizygous FRANCE DMD 121 2618 ---203-6-832 Female Heterozygous FRANCE Symptomatic carrier 115 2721 ---061-2-21 Male Hemizygous FRANCE DMD 112 9 ---172-0-2 Female Heterozygous - Symptomatic carrier 1 10 ---222-0-2 Female Heterozygous - Symptomatic carrier 1 112 ---096-0-1 Male Hemizygous - DMD 1 113 ---329-0-1 Male Hemizygous - DMD 1 114 ---354-0-1 Male Hemizygous - DMD 1 313 ---151-0-1 Male Hemizygous - DMD 1 314 ---299-0-1 Male Hemizygous - DMD 1 1663 ---043-2-01 Male Hemizygous FRANCE DMD 106 1759 ---189-3-3561 Male Hemizygous FRANCE DMD 116 1763 ---C13-6-6191 Male Hemizygous FRANCE DMD 116 1792 ---189-3-2541 Male Hemizygous FRANCE DMD 116 1799 ---002-0-51 Male Hemizygous FRANCE DMD 115 627 ---166-0-1 Male Hemizygous FRANCE DMD 1 737 ---623-0-1 Male Hemizygous - DMD 1 1066 ---587-0-1 Male Hemizygous - DMD 1 1266 ---487-0-1 Male Hemizygous - DMD 1 3214 ---274-0-1 Male Hemizygous FRANCE DMD 1 3498 ---184-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 506 ---088-0-1 Male Hemizygous FRANCE IMD 1 628 ---417-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2055 ---057-0-91 Male Hemizygous FRANCE DMD 122 2588 ---037-7-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2460 ---053-2-61 Male Hemizygous FRANCE BMD 127 43 ---460-0-1 Male Hemizygous - DMD 1 315 ---410-0-1 Male Hemizygous - DMD 1 1679 ---044-2-41 Male Hemizygous FRANCE DMD 112 1765 ---204-8-3201 Male Hemizygous FRANCE DMD 119 631 ---164-0-1 Male Hemizygous - DMD 1 3189 ---866-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3503 ---980-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2149 ---104-5-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1585 ---201-1-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1534 ---015-7-41 Male Hemizygous FRANCE BMD 112 629 ---354-0-1 Male Hemizygous - BMD 1 3325 ---702-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 394 ---219-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1693 ---161-6-0021 Male Hemizygous FRANCE DMD 119
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 Mutation status Geographic origin Phenotypic group References 3312 ---901-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3264 ---527-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1860 ---071-6-81 Male Hemizygous FRANCE DMD 115 1861 ---071-6-91 Male Hemizygous FRANCE DMD 115 1949 ---076-5-11 Male Hemizygous FRANCE DMD 106 1953 ---019-1-31 Male Hemizygous FRANCE DMD 106 1955 ---013-0-41 Male Hemizygous FRANCE DMD 106 1961 ---009-0-31 Male Hemizygous FRANCE DMD 106 2187 ---159-1-A1 Male Hemizygous LIBYA DMD 114 1831 ---041-3-41 Male Hemizygous FRANCE IMD 115 2428 ---032-5-21 Male Hemizygous FRANCE Pending 126 2481 ---089-5-21 Male Hemizygous FRANCE DMD 127 2504 ---165-0-B61 Male Hemizygous FRANCE DMD 121 2705 ---071-5-61 Male Hemizygous FRANCE DMD 110 2774 ---215-1-0461 Male Hemizygous FRANCE DMD 121 1 ---146-0-2 Female Heterozygous - Symptomatic carrier 1 2 ---146-1-2 Female Heterozygous - Symptomatic carrier 1 115 ---130-0-1 Male Hemizygous - DMD 1 116 ---441-0-1 Male Hemizygous FRANCE DMD 1 317 ---104-0-1 Male Hemizygous FRANCE DMD 1 318 ---355-0-1 Male Hemizygous FRANCE DMD 1 319 ---390-0-1 Male Hemizygous - DMD 1 2817 ---747-0-1 Male Hemizygous FRANCE DMD 1 2973 ---747-0-1 Male Hemizygous FRANCE DMD 1 2999 ---063-0-1 Male Hemizygous - DMD 1 3051 ---019-0-1 Male Hemizygous FRANCE DMD 1 3084 ---832-0-1 Male Hemizygous FRANCE DMD 1 3176 ---689-0-1 Male Hemizygous - DMD 1 3239 ---931-0-1 Male Hemizygous FRANCE DMD 1 3277 ---523-0-1 Male Hemizygous FRANCE DMD 1 3368 ---924-0-1 Male Hemizygous FRANCE DMD 1 2441 ---121-0-1 Male Hemizygous FRANCE DMD 1 3430 ---873-0-1 Male Hemizygous FRANCE DMD 1 3520 ---888-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1593 ---225-2-41 Male Hemizygous FRANCE DMD 100 141 ---318-0-1 Male Hemizygous - DMD 1 1315 ---318-1-1 Male Hemizygous - DMD 1 1316 ---318-2-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 630 ---333-0-1 Male Hemizygous FRANCE BMD 1 2847 ---982-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2016 ---235-2-01 Male Hemizygous FRANCE DMD 117 2054 ---055-0-81 Male Hemizygous FRANCE DMD 122 2085 ---016-3-m1 Male Hemizygous FRANCE DMD 114 2096 ---029-B-61 Male Hemizygous FRANCE DMD 114 1821 ---030-3-01 Male Hemizygous FRANCE DMD 115 1974 ---104-6-01 Male Hemizygous FRANCE DMD 106 1852 ---062-8-21 Male Hemizygous FRANCE Pending 115 2475 ---033-2-71 Male Hemizygous FRANCE DMD 127 2485 ---080-6-71 Male Hemizygous FRANCE DMD 127 2757 ---111-4-12 Female Heterozygous FRANCE Symptomatic carrier 112 320 ---142-0-1 Male Hemizygous - DMD 1 1614 ---248-4-41 Male Hemizygous FRANCE DMD 106 1646 ---094-6-81 Male Hemizygous FRANCE IMD 106 2583 ---154-9-0051 Male Hemizygous FRANCE DMD 116 1743 ---218-3-3721 Male Hemizygous FRANCE DMD 116 2582 ---154-9-0061 Male Hemizygous FRANCE DMD 116 1804 ---010-0-51 Male Hemizygous FRANCE DMD 115 736 ---621-0-1 Male Hemizygous - DMD 1 1393 ---119-0-1 Male Hemizygous - DMD 1 3002 ---594-0-1 Male Hemizygous FRANCE BMD 1 3045 ---766-0-1 Male Hemizygous - DMD 1 3226 ---083-0-1 Male Hemizygous FRANCE DMD 1 3367 ---911-0-1 Male Hemizygous FRANCE DMD 1 3475 ---982-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1503 ---046-1-11 Male Hemizygous FRANCE DMD 110 1882 ---103-2-61 Male Hemizygous FRANCE Pending 115 2314 ---039-9-22 Female Heterozygous FRANCE Symptomatic carrier 112 2469 ---051-6-21 Male Hemizygous FRANCE DMD 127 1809 ---015-1-31 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1546 ---029-3-81 Male Hemizygous FRANCE DMD 112
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 Mutation status Geographic origin Phenotypic group References 706 ---092-0-1 Male Hemizygous FRANCE IMD 2 3039 ---092-0-2 Female Heterozygous FRANCE Symptomatic carrier 2 3288 ---092-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3289 ---092-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3290 ---092-1-1 Male Hemizygous FRANCE Pending 1 3291 ---092-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 1983 ---116-4-0561 Male Hemizygous FRANCE DMD 121 2067 ---083-0-51 Male Hemizygous FRANCE DMD 122 1499 ---042-1-61 Male Hemizygous FRANCE DMD 110 1541 ---023-1-51 Male Hemizygous FRANCE DMD 112 1908 ---034-0-81 Male Hemizygous - DMD 113 2195 ---170-4-MA1 Male Hemizygous LEIBANON Pending 114 2209 ---197-G-11 Male Hemizygous FRANCE DMD 114 2225 ---220-D-31 Male Hemizygous FRANCE DMD 114 2448 ---054-6-61 Male Hemizygous FRANCE Pending 126 2477 ---034-2-71 Male Hemizygous FRANCE DMD 127 2666 ---067-6-81 Male Hemizygous FRANCE DMD 110 2707 ---113-7-m101 Male Hemizygous FRANCE DMD 113 119 ---113-0-1 Male Hemizygous - DMD 1 120 ---225-0-1 Male Hemizygous FRANCE DMD 1 326 ---447-0-2 Female Heterozygous - Symptomatic carrier 1 2920 ---090-0-1 Male Hemizygous FRANCE DMD 1 2922 ---090-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2222 ---214-5-m1 Male Hemizygous FRANCE DMD 114 2837 ---884-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2127 ---066-C-61 Male Hemizygous FRANCE DMD 114 2233 ---230-6-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2045 ---039-0-81 Male Hemizygous FRANCE DMD 122 2090 ---020-0-61 Male Hemizygous FRANCE DMD 114 2091 ---020-0-81 Male Hemizygous FRANCE DMD 114 2092 ---020-0-91 Male Hemizygous FRANCE DMD 114 1492 ---034-1-51 Male Hemizygous FRANCE DMD 110 1952 ---020-1-41 Male Hemizygous FRANCE DMD 106 2177 ---134-P-01 Male Hemizygous FRANCE DMD 114 2518 ---151-0-BS331 Male Hemizygous EGYPT DMD 121 117 ---385-1-1 Male Hemizygous - DMD 1 118 ---385-0-1 Male Hemizygous - DMD 1 121 ---080-0-1 Male Hemizygous - DMD 1 328 ---341-0-1 Male Hemizygous - DMD 1 329 ---348-0-1 Male Hemizygous - DMD 1 1815 ---021-8-11 Male Hemizygous FRANCE DMD 115 707 ---621-0-1 Male Hemizygous - DMD 1 862 ---643-0-1 Male Hemizygous - DMD 1 1064 ---067-0-1 Male Hemizygous - DMD 1 3280 ---943-0-1 Male Hemizygous FRANCE DMD 1 3433 ---578-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3357 ---934-0-2 Female Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1675 ---038-1-61 Male Hemizygous FRANCE DMD 112 2820 ---750-0-1 Male Hemizygous - DMD 1 2976 ---750-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2488 ---093-4-81 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3507 ---951-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 347 ---179-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 149 ---149-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2119 ---052-5-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2729 ---073-5-31 Male Hemizygous FRANCE DMD 112
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 Mutation status Geographic origin Phenotypic group References 3309 ---884-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2048 ---042-0-11 Male Hemizygous FRANCE DMD 122 1474 ---015-2-31 Male Hemizygous FRANCE DMD 110 1493 ---035-3-71 Male Hemizygous FRANCE Pending 110 1586 ---203-1-71 Male Hemizygous FRANCE DMD 106 1859 ---070-3-81 Male Hemizygous FRANCE DMD 115 1864 ---075-7-51 Male Hemizygous FRANCE DMD 115 1925 ---086-3-m361 Male Hemizygous - DMD 113 1950 ---071-4-91 Male Hemizygous FRANCE DMD 106 1951 ---071-4-31 Male Hemizygous FRANCE DMD 106 2224 ---219-B-11 Male Hemizygous FRANCE DMD 114 2232 ---228-E-11 Male Hemizygous FRANCE DMD 114 1843 ---053-5-11 Male Hemizygous FRANCE IMD 115 2590 ---101-5-m1 Male Hemizygous LEIBANON DMD 114 2388 ---333-7-51 Male Hemizygous ITALIA DMD 106 2532 ---089-8-51 Male Hemizygous FRANCE Pending 126 2521 ---161-6-CQ581 Male Hemizygous EGYPT DMD 121 41 ---109-0-1 Male Hemizygous - DMD 1 122 ---159-0-1 Male Hemizygous - DMD 1 123 ---165-0-1 Male Hemizygous - DMD 1 145 ---481-0-1 Male Hemizygous - DMD 1 330 ---038-0-1 Male Hemizygous - DMD 1 331 ---039-0-1 Male Hemizygous - DMD 1 332 ---078-0-1 Male Hemizygous - DMD 1 333 ---112-0-1 Male Hemizygous - DMD 119 334 ---148-0-1 Male Hemizygous - DMD 1 335 ---151-0-1 Male Hemizygous - DMD 1 336 ---151-0-1 Male Hemizygous - DMD 1 338 ---318-0-1 Male Hemizygous FRANCE DMD 1 339 ---354-0-1 Male Hemizygous - DMD 1 1619 ---336-7-31 Male Hemizygous FRANCE DMD 106 1644 ---088-6-01 Male Hemizygous FRANCE DMD 106 1696 ---C24-0-061 Male Hemizygous FRANCE DMD 116 1757 ---214-9-4561 Male Hemizygous FRANCE DMD 116 1783 ---174-2-3491 Male Hemizygous FRANCE DMD 119 1785 ---218-5-3731 Male Hemizygous FRANCE DMD 119 716 ---086-0-1 Male Hemizygous - DMD 1 733 ---598-0-1 Male Hemizygous FRANCE DMD 1 1207 ---038-1-1 Male Hemizygous - DMD 1 1209 ---038-2-1 Male Hemizygous - DMD 1 1262 ---348-0-1 Male Hemizygous - DMD 1 1268 ---573-0-1 Male Hemizygous - DMD 1 2810 ---112-0-2 Female Heterozygous - Symptomatic carrier 1 2966 ---112-0-2 Female Heterozygous - Symptomatic carrier 1 3127 ---348-1-1 Male Hemizygous - DMD 1 3318 ---853-0-1 Male Hemizygous ITALIA DMD 1 3331 ---934-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3362 ---039-0-1 Male Hemizygous FRANCE DMD 1 3541 ---991-0-1 Male Hemizygous ALGERIA DMD 1 3546 ---978-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2684 ---218-2-701 Male Hemizygous FRANCE DMD 115 396 ---035-0-1 Male Hemizygous - DMD 1 1099 ---709-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1223 ---556-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2076 ---005-1-m1 Male Hemizygous FRANCE DMD 114 2081 ---010-7-m1 Male Hemizygous FRANCE DMD 114 2554 ---512-0-921 Male Hemizygous FRANCE DMD 121 30 ---014-0-1 Male Hemizygous FRANCE DMD 1 341 ---081-0-1 Male Hemizygous FRANCE DMD 1 342 ---122-0-2 Female Heterozygous - Symptomatic carrier 5 3543 ---990-0-1 Male Hemizygous FRANCE DMD 1 3564 ---990-0-2 Male Heterozygous 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 Mutation status Geographic origin Phenotypic group References 2134 ---081-D-21 Male Hemizygous FRANCE DMD 114 2216 ---206-2-m1 Male Hemizygous FRANCE DMD 114 2614 ---200-6-61 Male Hemizygous LEIBANON DMD 115 3565 ---101-0-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1560 ---128-7-01 Male Hemizygous LEIBANON DMD 106 124 ---075-0-1 Male Hemizygous - DMD 119 343 ---034-1-1 Male Hemizygous - DMD 1 344 ---034-0-1 Male Hemizygous - DMD 1 346 ---015-3-1 Male Hemizygous - DMD 1 1648 ---065-4-41 Male Hemizygous FRANCE DMD 106 1649 ---065-4-51 Male Hemizygous FRANCE DMD 106 1818 ---027-8-01 Male Hemizygous FRANCE DMD 115 2788 ---745-0-1 Male Hemizygous - DMD 1 1113 ---015-2-1 Male Hemizygous - DMD 1 1114 ---015-4-1 Male Hemizygous - DMD 1 1115 ---015-5-1 Male Hemizygous - DMD 1 1116 ---015-0-1 Male Hemizygous - DMD 1 1117 ---015-1-1 Male Hemizygous - DMD 1 1178 ---075-1-1 Male Hemizygous - DMD 1 2944 ---745-0-1 Male Hemizygous - DMD 1 3011 ---281-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 44 ---495-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3471 ---185-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 142 ---221-0-1 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 1249 ---148-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2018 ---143-7-86601 Male Hemizygous FRANCE DMD 117 2102 ---045-5-m1 Male Hemizygous FRANCE DMD 114 1547 ---030-7-11 Male Hemizygous FRANCE DMD 112 2126 ---064-8-11 Male Hemizygous FRANCE DMD 114 2189 ---163-0-M1 Male Hemizygous FRANCE DMD 114 1839 ---049-6-61 Male Hemizygous FRANCE DMD 115 2321 ---054-3-81 Male Hemizygous FRANCE DMD 112 2433 ---037-5-71 Male Hemizygous FRANCE Pending 126 2463 ---047-5-81 Male Hemizygous FRANCE DMD 127 2500 ---194-D-781 Male Hemizygous FRANCE DMD 121 2679 ---537-6-31 Male Hemizygous FRANCE DMD 106 24 ---503-0-1 Male Hemizygous FRANCE DMD 1 125 ---389-0-1 Male Hemizygous FRANCE DMD 1 348 ---043-0-1 Male Hemizygous FRANCE DMD 1 349 ---073-0-1 Male Hemizygous - DMD 1 350 ---075-0-1 Male Hemizygous FRANCE DMD 1 351 ---109-0-1 Male Hemizygous FRANCE DMD 1 352 ---120-0-1 Male Hemizygous - DMD 1 353 ---172-0-1 Male Hemizygous - DMD 1 1665 ---074-5-41 Male Hemizygous FRANCE DMD 106 1739 ---253-9-4771 Male Hemizygous FRANCE DMD 116 735 ---607-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 755 ---612-0-1 Male Hemizygous FRANCE DMD 1 1036 ---549-0-1 Male Hemizygous - DMD 1 1386 ---650-0-1 Male Hemizygous - DMD 1 3208 ---061-0-1 Male Hemizygous - DMD 1 3276 ---389-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3363 ---943-0-1 Male Hemizygous FRANCE DMD 1 2905 ---102-2-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2367 ---061-2-m1 Male Hemizygous FRANCE DMD 114 2371 ---098-F-81 Male Hemizygous FRANCE DMD 114 1258 ---299-0-1 Male Hemizygous - DMD 1 2998 ---014-0-1 Male Hemizygous - DMD 1 3324 ---951-0-1 Male Hemizygous FRANCE DMD 1 3372 ---066-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2059 ---070-0-41 Male Hemizygous FRANCE DMD 122 2543 ---454-2-11 Male Hemizygous FRANCE DMD 106 2764 ---527-5-41 Male Hemizygous FRANCE DMD 106 355 ---040-0-1 Male Hemizygous - DMD 1 3177 ---701-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1625 ---271-6-61 Male Hemizygous FRANCE DMD 106 696 ---537-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1781 ---433-0-891 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3399 ---559-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 143 ---411-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 36 ---446-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 1624 ---267-5-21 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1767 ---154-3-0081 Male Hemizygous FRANCE DMD 116
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 Mutation status Geographic origin Phenotypic group References 3233 ---545-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1457 ---319-7-31 Male Hemizygous FRANCE DMD 106 1482 ---294-6-51 Male Hemizygous FRANCE DMD 106 1561 ---260-4-31 Male Hemizygous FRANCE DMD 100 1568 ---170-0-01 Male Hemizygous French DMD 100 2496 ---408-2-71 Male Hemizygous FRANCE DMD 106 2560 ---165-6-0241 Male Hemizygous FRANCE DMD 121 2682 ---214-2-021 Male Hemizygous FRANCE DMD 115 126 ---239-0-1 Male Hemizygous - DMD 1 146 ---441-0-1 Male Hemizygous - DMD 1 3081 ---793-0-1 Male Hemizygous - DMD 1 3574 ---993-1- Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2377 ---236-1-m1 Male Hemizygous FRANCE DMD 114 2519 ---153-7-BY481 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1907 ---033-0-71 Male Hemizygous - DMD 113 1929 ---219-2-61 Male Hemizygous FRANCE DMD 106 356 ---057-0-1 Male Hemizygous - DMD 1 357 ---086-0-1 Male Hemizygous - DMD 119 358 ---086-1-1 Male Hemizygous - DMD 1 2814 ---699-0-1 Male Hemizygous - DMD 1 2970 ---699-0-1 Male Hemizygous - DMD 1 3420 ---943-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1602 ---251-4-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2046 ---040-0-91 Male Hemizygous FRANCE DMD 122 2135 ---082-8-m1 Male Hemizygous FRANCE DMD 114 2223 ---215-9-A1 Male Hemizygous FRANCE DMD 114 2318 ---050-6-51 Male Hemizygous FRANCE DMD 112 2689 ---229-3-581 Male Hemizygous FRANCE DMD 115 2770 ---529-5-91 Male Hemizygous FRANCE DMD 106 12 ---239-0-1 Male Hemizygous - DMD 1 1690 ---678-0-831 Male Hemizygous FRANCE DMD 116 2819 ---750-0-1 Male Hemizygous - DMD 1 2823 ---751-0-1 Male Hemizygous - DMD 1 2975 ---750-0-1 Male Hemizygous - DMD 1 2979 ---751-0-1 Male Hemizygous - DMD 1 3056 ---585-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 3365 ---097-0-1 Male Hemizygous FRANCE DMD 1 3533 ---691-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2611 ---330-7-11 Male Hemizygous FRANCE DMD 106 3010 ---066-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2858 ---032-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2938 ---032-1-1 Male Mosaic (Somatic) 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 Mutation status Geographic origin Phenotypic group References 2906 ---188-0-1 Male Hemizygous FRANCE DMD 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 Mutation status Geographic origin Phenotypic group References 127 ---054-0-1 Male Hemizygous - DMD 1 359 ---068-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 398 ---135-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2372 ---108-3-m1 Male Hemizygous FRANCE DMD 114
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 Mutation status Geographic origin Phenotypic group References 3313 ---878-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2349 ---397-0-61 Male Hemizygous FRANCE DMD 106 15 ---480-0-1 Male Hemizygous FRANCE DMD 1 128 ---146-0-1 Male Hemizygous FRANCE DMD 1 129 ---162-0-1 Male Hemizygous - DMD 1 360 ---328-0-1 Male Hemizygous - DMD 1 1795 ---173-6-2251 Male Hemizygous FRANCE DMD 119 1059 ---705-0-1 Male Hemizygous - DMD 1 2434 ---146-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3236 ---228-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 144 ---141-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 399 ---098-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 361 ---298-0-1 Male Hemizygous - DMD 1
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 Mutation status Geographic origin Phenotypic group References 1777 ---204-7-3221 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1706 ---174-0-5011 Male Hemizygous FRANCE IMD 116 1791 ---174-0-2141 Male Hemizygous FRANCE Pending 116 3326 ---704-0-2 Female Heterozygous 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 Mutation status Geographic origin Phenotypic group References 1756 ---161-5-0071 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2094 ---022-8-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2557 ---168-6-0461 Male Hemizygous FRANCE DMD 121 400 ---031-0-1 Male Hemizygous - DMD 1 401 ---043-0-1 Male Hemizygous FRANCE DMD 1 402 ---178-0-1 Male Hemizygous FRANCE DMD 1 3360 ---165-0-1 Male Hemizygous FRANCE DMD 1 2606 ---437-0-1 Male Hemizygous FRANCE DMD 1 3588 ---043-1-1 Male Hemizygous FRANCE DMD 1 3589 ---043-2-1 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 3229 ---702-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3230 ---608-0-1 Male Hemizygous FRANCE DMD 1 3231 ---608-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1958 ---038-2-31 Male Hemizygous FRANCE DMD 106 1959 ---038-2-21 Male Hemizygous FRANCE DMD 106 1960 ---038-2-41 Male Hemizygous FRANCE DMD 106
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 Mutation status Geographic origin Phenotypic group References 2634 ---007-0-71 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3427 ---061-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1761 ---260-2-5221 Male Hemizygous FRANCE DMD 116 1762 ---260-2-5231 Male Hemizygous FRANCE DMD 116 3080 ---764-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 131 ---233-0-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3563 ---764-0-1 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 1703 ---214-4-3581 Male Hemizygous FRANCE DMD 116 3538 ---010-0-1 Male Hemizygous FRANCE DMD 1 3539 ---010-1-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2681 ---214-2-021 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1569 ---173-0-61 Male Hemizygous FRANCE DMD 100 2234 ---232-4-MA1 Male Hemizygous LEIBANON DMD 114 2389 ---155-9-81 Male Hemizygous FRANCE DMD 100 363 ---195-0-1 Male Hemizygous - DMD 1 3577 ---290-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 3062 ---708-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1608 ---281-5-01 Male Hemizygous FRANCE DMD 106
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 Mutation status Geographic origin Phenotypic group References 27 ---429-0-1 Male Hemizygous - DMD 1 1241 ---429-1-1 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 2220 ---212-6-m1 Male Hemizygous FRANCE DMD 114
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 Mutation status Geographic origin Phenotypic group References 1927 ---344-8-11 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2589 ---108-3-m1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 2373 ---063-0-1 Male Hemizygous 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 Mutation status Geographic origin Phenotypic group References 1911 ---048-6-m181 Male Hemizygous - 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 Mutation status Geographic origin Phenotypic group References 3555 ---986-0-1 Male Hemizygous FRANCE DMD 1
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 Mutation status Geographic origin Phenotypic group References 1555 ---118-3-11 Male Hemizygous FRANCE DMD 100
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 Mutation status Geographic origin Phenotypic group References 365 ---014-0-1 Male Hemizygous - DMD 1
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 Mutation status Geographic origin Phenotypic group References 2206 ---193-E-21 Male Hemizygous FRANCE DMD 114
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 Mutation status Geographic origin Phenotypic group References 3561 ---973-0-1 Male Hemizygous SPAIN DMD 1
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 Mutation status Geographic origin Phenotypic group References 2671 ---892-0-951 Male Hemizygous FRANCE DMD 116
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 Mutation status Geographic origin Phenotypic group References 412 ---220-0-1 Male Hemizygous - BMD 1