The UMD-DMD France mutations database
Large deletions (1901 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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 ---422412861 Male Hemizygous FRANCE DMD 106 2476 ---903624991 Male Hemizygous FRANCE DMD 127 727 ---50205011 Male Hemizygous - DMD 3 2863 ---51442011 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 ---57078011 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 ---71014700211 Male Hemizygous FRANCE BMD 121 1594 ---422612531 Male Hemizygous FRANCE DMD 106 2430 ---403405291 Male Hemizygous FRANCE Pending 126 703 ---55715011 Male Hemizygous - DMD 1 3209 ---50481011 Male Hemizygous - DMD 12 3210 ---5048106 Female Heterozygous - Symptomatic carrier 12 3301 ---55656011 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 ---50657011 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 ---408107731 Male Hemizygous FRANCE Pending 126 1820 ---302912311 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 ---50171011 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 ---307409661 Male Hemizygous FRANCE DMD 115 1909 ---804695dm071 Male Hemizygous - BMD 113 2562 ---7734000071 Male Hemizygous FRANCE DMD 121 3380 ---50496011 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 ---51002011 Male Hemizygous FRANCE DMD 1 2860 ---59010011 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 ---501803711 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 ---401901691 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 ---50534011 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 ---412607791 Male Hemizygous FRANCE BMD 106
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 ---50850011 Male Hemizygous FRANCE Pending 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 ---71668700111 Male Hemizygous FRANCE DMD 121
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 ---409806441 Male Hemizygous FRANCE BMD 106
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 ---56240011 Male Hemizygous FRANCE BMD 1 3238 ---56240111 Male Hemizygous FRANCE Asymptomatic 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 ---50891011 Male Hemizygous FRANCE DMD 1 3235 ---50891052 Female Heterozygous FRANCE Symptomatic carrier 1
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 ---412618162831 Male Hemizygous FRANCE DMD 117 38 ---51867011 Male Hemizygous FRANCE IMD 1 47 ---53356011 Male Hemizygous FRANCE DMD 1 1730 ---72236704011 Male Hemizygous FRANCE DMD 116 1376 ---56540011 Male Hemizygous - DMD 1 2829 ---51867111 Male Hemizygous FRANCE Pending 1 2985 ---51867111 Male Hemizygous FRANCE Pending 1 3343 ---58460011 Male Hemizygous FRANCE DMD 1 3444 ---59718011 Male Hemizygous FRANCE Pending 1 3548 ---59973011 Male Hemizygous FRANCE DMD 1
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 ---411203911 Male Hemizygous FRANCE Pending 112 1775 ---72090003361 Male Hemizygous FRANCE BMD 116 516 ---50270011 Male Hemizygous FRANCE DMD 1
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 ---51496011 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 ---310102461 Male Hemizygous FRANCE DMD 115 2895 ---510218011 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 ---302300091 Male Hemizygous FRANCE Pending 122 2037 ---302300101 Male Hemizygous FRANCE Pending 122 1897 ---312206811 Male Hemizygous FRANCE BMD 115
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 ---52305011 Male Hemizygous - 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 ---423113161 Male Hemizygous ALGERIA DMD 106
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 ---51743011 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 ---805799dm161 Male Hemizygous - DMD 113 164 ---50963011 Male Hemizygous - DMD 1 3227 ---50963111 Male Hemizygous FRANCE DMD 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 ---300600031 Male Hemizygous FRANCE Pending 122 517 ---50772011 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 ---411585148751 Male Hemizygous FRANCE BMD 117 2044 ---303700171 Male Hemizygous FRANCE BMD 122 1475 ---501704691 Male Hemizygous FRANCE BMD 110 1873 ---309409821 Male Hemizygous FRANCE BMD 115 1934 ---404202491 Male Hemizygous FRANCE BMD 106 1935 ---404202501 Male Hemizygous FRANCE BMD 106 2754 ---410700451 Male Hemizygous FRANCE BMD 112 1782 ---7992901051 Male Hemizygous FRANCE BMD 116 409 ---51860011 Male Hemizygous - BMD 1 410 ---51860111 Male Hemizygous - BMD 1 411 ---51860211 Male Hemizygous - BMD 1 418 ---51006011 Male Hemizygous - BMD 1 445 ---51411011 Male Hemizygous - BMD 1 512 ---50706011 Male Hemizygous FRANCE BMD 1 513 ---51421011 Male Hemizygous - BMD 1 514 ---52495011 Male Hemizygous - BMD 1 3079 ---57484011 Male Hemizygous - BMD 1 3168 ---51164011 Male Hemizygous - BMD 1 3246 ---50706111 Male Hemizygous FRANCE 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 ---51698011 Male Hemizygous - DMD 1 1716 ---72115703421 Male Hemizygous FRANCE DMD 119
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 ---307900411 Male Hemizygous FRANCE Pending 122 518 ---51148011 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 ---51659011 Male Hemizygous - BMD 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 ---71164300411 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 ---51499011 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 ---9138489m1 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 ---58294011 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 ---304700231 Male Hemizygous FRANCE Pending 122 1778 ---71559603141 Male Hemizygous FRANCE DMD 119 3513 ---53492011 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 ---413568175621 Male Hemizygous FRANCE DMD 117 33 ---50272111 Male Hemizygous - DMD 1 34 ---50272011 Male Hemizygous - DMD 1 45 ---51465011 Male Hemizygous - BMD 1 159 ---50981011 Male Hemizygous - DMD 1 1734 ---71612803131 Male Hemizygous FRANCE DMD 116 1735 ---71612803121 Male Hemizygous FRANCE DMD 119
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 ---90580CU11 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 ---303103321 Male Hemizygous FRANCE DMD 115 3515 ---50316011 Male Hemizygous FRANCE DMD 1
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 ---305605671 Male Hemizygous FRANCE DMD 115 2416 ---402103051 Male Hemizygous FRANCE Pending 126 2439 ---404405711 Male Hemizygous FRANCE Pending 126 166 ---50775011 Male Hemizygous - DMD 1 3483 ---57104072 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 ---420274261181 Male Hemizygous FRANCE BMD 117 2473 ---904510471 Male Hemizygous FRANCE DMD 127 49 ---50278011 Male Hemizygous - DMD 1 1803 ---300900311 Male Hemizygous FRANCE DMD 115 1374 ---56891011 Male Hemizygous - DMD 1 3166 ---58546011 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 ---424302881 Male Hemizygous FRANCE BMD 117 2642 ---3209111121 Male Hemizygous FRANCE BMD 115 2062 ---307500381 Male Hemizygous FRANCE DMD 122 2063 ---307500391 Male Hemizygous FRANCE DMD 122 2064 ---307700401 Male Hemizygous FRANCE BMD 122 2115 ---504805251 Male Hemizygous FRANCE Pending 110 1487 ---502801621 Male Hemizygous FRANCE DMD 110 1489 ---503100241 Male Hemizygous FRANCE BMD 110 1494 ---503604441 Male Hemizygous FRANCE DMD 110 1501 ---504402181 Male Hemizygous FRANCE DMD 110 1553 ---411707481 Male Hemizygous FRANCE BMD 106 1554 ---411707661 Male Hemizygous BELGIUM BMD 106 1600 ---424213731 Male Hemizygous FRANCE DMD 106 1881 ---310210341 Male Hemizygous FRANCE BMD 115 1902 ---800400011 Male Hemizygous - BMD 113 1913 ---805197dm061 Male Hemizygous - BMD 113 1943 ---403201901 Male Hemizygous FRANCE BMD 106 1967 ---404902921 Male Hemizygous FRANCE Pending 106 2181 ---91400DM11 Male Hemizygous FRANCE Pending 114 2207 ---9194359m1 Male Hemizygous FRANCE BMD 114 2466 ---902627461 Male Hemizygous FRANCE BMD 127 2474 ---902703231 Male Hemizygous FRANCE BMD 127 2486 ---905403371 Male Hemizygous FRANCE BMD 127 2675 ---71946300901 Male Hemizygous FRANCE Pending 121 2725 ---406623961 Male Hemizygous FRANCE DMD 112 2737 ---408501361 Male Hemizygous FRANCE DMD 112 21 ---50873011 Male Hemizygous - DMD 1 29 ---51855011 Male Hemizygous - DMD 1 46 ---54006011 Male Hemizygous FRANCE DMD 1 160 ---50590011 Male Hemizygous - DMD 1 161 ---51595011 Male Hemizygous FRANCE BMD 1 163 ---53983011 Male Hemizygous - DMD 1 436 ---50629011 Male Hemizygous - IMD 1 437 ---50629111 Male Hemizygous - IMD 1 446 ---50556011 Male Hemizygous FRANCE BMD 1 447 ---51468011 Male Hemizygous - BMD 1 502 ---51310011 Male Hemizygous FRANCE BMD 1 511 ---50427011 Male Hemizygous - BMD 1 744 ---53544011 Male Hemizygous FRANCE BMD 1 749 ---50362011 Male Hemizygous - DMD 1 985 ---56865011 Male Hemizygous - DMD 1 1388 ---56274011 Male Hemizygous - DMD 1 2806 ---50873111 Male Hemizygous - DMD 1 2807 ---50873211 Male Hemizygous - DMD 1 2808 ---50873311 Male Hemizygous - DMD 1 2962 ---50873111 Male Hemizygous - DMD 1 2963 ---50873211 Male Hemizygous - DMD 1 2964 ---50873311 Male Hemizygous - DMD 1 3075 ---50684011 Male Hemizygous - IMD 1 3335 ---58231011 Male Hemizygous FRANCE Pending 1 3336 ---58231111 Male Hemizygous FRANCE BMD 1 3376 ---53897011 Male Hemizygous FRANCE DMD 1 3518 ---57968011 Male Hemizygous FRANCE DMD 1 3551 ---56082011 Male Hemizygous FRANCE DMD 1 2935 ---510175011 Male Hemizygous FRANCE Pending 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 ---59909011 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 ---401910141 Male Hemizygous FRANCE DMD 112 2311 ---401910591 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 ---402604211 Male Hemizygous FRANCE DMD 126 2421 ---402604221 Male Hemizygous FRANCE Pending 126 2628 ---100100011 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 ---51765011 Male Hemizygous - BMD 1 449 ---51765111 Male Hemizygous - BMD 1 3488 ---50984011 Male Hemizygous FRANCE BMD 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 ---50229111 Male Hemizygous - BMD 1 520 ---50229011 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 ---72078300291 Male Hemizygous FRANCE BMD 121 1806 ---301201411 Male Hemizygous FRANCE DMD 115
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 ---48289483851 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 ---56820011 Male Hemizygous - DMD 1 2971 ---56820011 Male Hemizygous - DMD 1
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 ---403605641 Male Hemizygous FRANCE DMD 112 50 ---50609011 Male Hemizygous - DMD 1
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 ---53791011 Male Hemizygous - DMD 1 169 ---53791111 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 ---72150803631 Male Hemizygous FRANCE Pending 119
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 ---9048409m1 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 ---778020HY11 Male Hemizygous ISRAEL DMD 121 1886 ---310703401 Male Hemizygous FRANCE Pending 115 2121 ---505438722 Female Hemizygous FRANCE Symptomatic carrier 110 2142 ---9093569m1 Male Hemizygous FRANCE DMD 114 2210 ---9198739m1 Male Hemizygous FRANCE DMD 114 2211 ---9198740m1 Male Hemizygous FRANCE DMD 114 1828 ---303812521 Male Hemizygous FRANCE Pending 115 1836 ---304604861 Male Hemizygous FRANCE DMD 115 1851 ---306105441 Male Hemizygous FRANCE BMD 115 2357 ---405718001 Male Hemizygous FRANCE DMD 112 2457 ---306600331 Male Hemizygous FRANCE DMD 122 2633 ---100600061 Male Hemizygous FRANCE DMD 128 2676 ---72032100261 Male Hemizygous FRANCE DMD 121 26 ---51983011 Male Hemizygous - DMD 1 362 ---51983111 Male Hemizygous - DMD 1 1694 ---71892102411 Male Hemizygous FRANCE DMD 116 701 ---55834011 Male Hemizygous - DMD 1 2790 ---51983211 Male Hemizygous - DMD 1 1394 ---53328011 Male Hemizygous - DMD 1 2946 ---51983211 Male Hemizygous - DMD 1 3442 ---57893011 Male Hemizygous FRANCE DMD 1 3522 ---59794011 Male Hemizygous FRANCE DMD 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 ---56678011 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 ---307400371 Male Hemizygous FRANCE BMD 122 1885 ---310611741 Male Hemizygous FRANCE BMD 115 521 ---51090011 Male Hemizygous - BMD 1 522 ---51090111 Male Hemizygous - BMD 1 523 ---51379011 Male Hemizygous - BMD 1 3306 ---59345011 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 ---303903341 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 ---56566011 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 ---50135011 Male Hemizygous - IMD 1 1677 ---50135111 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 ---405818801 Male Hemizygous FRANCE DMD 112 2759 ---405801841 Male Hemizygous FRANCE DMD 112 170 ---53110111 Male Hemizygous SAUDI ARABIA DMD 1 1325 ---53110011 Male Hemizygous SAUDI ARABIA DMD 1
p.Arg177_Asn444delinsSer	c.531_1331del	6-7	177	Actin binding domain		Large rearrangement Deletion from exon 7 to 11	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 524 ---51594011 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 ---50209011 Male Hemizygous FRANCE 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 ---9006751m1 Male Hemizygous FRANCE DMD 114 171 ---51092011 Male Hemizygous FRANCE DMD 1 1016 ---51092111 Male Hemizygous FRANCE DMD 1 2941 ---51092062 Female Heterozygous FRANCE Pending 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 ---400400191 Male Hemizygous FRANCE Pending 126 2398 ---400400231 Male Hemizygous FRANCE Pending 126 3435 ---51337011 Male Hemizygous FRANCE DMD 1 3436 ---51337111 Male Hemizygous FRANCE 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 ---51578011 Male Hemizygous - DMD 1 177 ---50264011 Male Hemizygous - DMD 1 760 ---55792011 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 ---402511781 Male Hemizygous FRANCE DMD 112 1566 ---416609911 Male Hemizygous LEIBANON DMD 106 2190 ---9164834m1 Male Hemizygous FRANCE DMD 114 2201 ---91830AX91 Male Hemizygous FRANCE DMD 114 2202 ---9183AX101 Male Hemizygous FRANCE DMD 114 155 ---51795011 Male Hemizygous - DMD 1 1700 ---72095603871 Male Hemizygous FRANCE DMD 116 1320 ---51795111 Male Hemizygous - DMD 1
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 ---9135239m1 Male Hemizygous FRANCE DMD 114 3253 ---50631011 Male Hemizygous FRANCE 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 ---504905361 Male Hemizygous FRANCE Pending 110 2183 ---91520BB81 Male Hemizygous FRANCE DMD 114 178 ---50122011 Male Hemizygous - DMD 1 179 ---50393011 Male Hemizygous - DMD 1 3375 ---51073011 Male Hemizygous FRANCE DMD 119
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 ---501300731 Male Hemizygous FRANCE Pending 110 180 ---50760011 Male Hemizygous - DMD 1 888 ---50160111 Male Hemizygous - DMD 1 889 ---50160011 Male Hemizygous - DMD 1 3383 ---50111011 Male Hemizygous FRANCE DMD 1 3438 ---59614011 Male Hemizygous FRANCE 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 ---415309431 Male Hemizygous FRANCE DMD 106 3489 ---51165011 Male Hemizygous FRANCE 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 ---52637011 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 ---504705181 Male Hemizygous FRANCE Pending 110 3478 ---59721011 Male Hemizygous FRANCE DMD 1 2842 ---59721111 Male Hemizygous FRANCE DMD 1
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 ---52985111 Male Hemizygous - DMD 1 183 ---52985011 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 ---402301691 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 ---309303191 Male Hemizygous FRANCE DMD 115 3552 ---56294011 Male Hemizygous FRANCE DMD 1 3553 ---56294111 Male Hemizygous FRANCE DMD 1 3581 ---56294211 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 ---402303311 Male Hemizygous FRANCE Pending 126 2686 ---3222124431 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 ---401601331 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 ---422712841 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 ---304100201 Male Hemizygous FRANCE DMD 122 184 ---53626011 Male Hemizygous - DMD 1 3297 ---58602011 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 ---907424611 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 ---51876011 Male Hemizygous - DMD 119 1776 ---71573000091 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 ---426615471 Male Hemizygous FRANCE DMD 106 1565 ---416210111 Male Hemizygous FRANCE DMD 106 2698 ---3238157432 Female Heterozygous FRANCE Symptomatic carrier 115 51 ---51701011 Male Hemizygous FRANCE DMD 1 53 ---54758011 Male Hemizygous - DMD 1 172 ---50797011 Male Hemizygous - DMD 1 173 ---50444011 Male Hemizygous - DMD 1 175 ---51300011 Male Hemizygous - DMD 1 3000 ---50797111 Male Hemizygous - DMD 1 3405 ---50206011 Male Hemizygous FRANCE DMD 1 3511 ---54111011 Male Hemizygous FRANCE IMD 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 ---402801751 Male Hemizygous FRANCE DMD 106 2452 ---411307081 Male Hemizygous LEIBANON DMD 106 2458 ---306600331 Male Hemizygous FRANCE DMD 122 57 ---50332011 Male Hemizygous FRANCE DMD 1 58 ---51477011 Male Hemizygous - DMD 1 59 ---53478011 Male Hemizygous - DMD 1 186 ---51719011 Male Hemizygous - DMD 1 187 ---54963011 Male Hemizygous - DMD 1 3321 ---58764011 Male Hemizygous FRANCE DMD 1 3323 ---56481011 Male Hemizygous FRANCE DMD 1 3418 ---56402011 Male Hemizygous FRANCE DMD 1 3419 ---56402111 Male Hemizygous FRANCE DMD 1 3499 ---59067011 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 ---411401921 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 ---3213121852 Female Heterozygous FRANCE Symptomatic carrier 115 505 ---53731011 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 ---56839011 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 ---50968011 Male Hemizygous FRANCE 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 ---54799011 Male Hemizygous - BMD 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 ---306500311 Male Hemizygous FRANCE Pending 122 2058 ---306500321 Male Hemizygous FRANCE Pending 122
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 ---52721011 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 ---57597011 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 ---4093911981 Male Hemizygous FRANCE BMD 117 2627 ---442321341 Male Hemizygous FRANCE BMD 106 2316 ---404117911 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 ---71469901551 Male Hemizygous FRANCE Pending 116 507 ---51857011 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 ---51670011 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 ---51529011 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 ---50549011 Male Hemizygous - DMD 1 190 ---50549111 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 ---51453011 Male Hemizygous - DMD 1 156 ---51821011 Male Hemizygous FRANCE DMD 1 192 ---52193011 Male Hemizygous - DMD 1 1742 ---72173003681 Male Hemizygous FRANCE DMD 119 2827 ---51453111 Male Hemizygous - DMD 1 2983 ---51453111 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 ---805699dm011 Male Hemizygous - DMD 113
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 ---902015031 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 ---51906011 Male Hemizygous - BMD 1 2797 ---51906111 Male Hemizygous - BMD 1 2953 ---51906111 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 ---407004561 Male Hemizygous FRANCE BMD 106 1980 ---407004731 Male Hemizygous FRANCE BMD 106 2645 ---402904811 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 ---56918011 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 ---90670FY11 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 ---100300031 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 ---503002911 Male Hemizygous FRANCE DMD 110 193 ---50593011 Male Hemizygous - DMD 1 1083 ---57120011 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 ---54182011 Male Hemizygous - DMD 1
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 ---7164200011 Male Hemizygous FRANCE DMD 121 194 ---53055011 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 ---54939011 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 ---72184300821 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 ---9069083m1 Male Hemizygous FRANCE DMD 114 2384 ---432017461 Male Hemizygous FRANCE DMD 106
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 ---55553011 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 ---300400021 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 ---403119001 Male Hemizygous FRANCE DMD 112 1954 ---400300321 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 ---301101091 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 ---307100351 Male Hemizygous FRANCE DMD 122
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 ---302500111 Male Hemizygous FRANCE DMD 122 2039 ---302500121 Male Hemizygous FRANCE DMD 122 2658 ---452625712 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 ---51863011 Male Hemizygous FRANCE BMD 7 3199 ---51863311 Male Hemizygous FRANCE BMD 7 3200 ---51863111 Male Hemizygous FRANCE Asymptomatic 7 3206 ---51863411 Male Hemizygous FRANCE Asymptomatic 7 3207 ---51863211 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 ---420912111 Male Hemizygous FRANCE BMD 106 1588 ---420917931 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 ---311109721 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 ---905924761 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 ---405306271 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 ---91190BY31 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 ---91910EQ11 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 ---51936011 Male Hemizygous - DMD 1 150 ---51675011 Male Hemizygous - DMD 1 196 ---52606011 Male Hemizygous - DMD 1 1754 ---7C20306321 Male Hemizygous FRANCE DMD 116
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 ---55171011 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 ---51188011 Male Hemizygous FRANCE DMD 1 198 ---51188111 Male Hemizygous FRANCE DMD 1 698 ---55480012 Female Heterozygous - Symptomatic carrier 1
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 ---50666011 Male Hemizygous FRANCE DMD 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 ---50429011 Male Hemizygous FRANCE DMD 1 3505 ---50429111 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 ---54841011 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 ---54949011 Male Hemizygous FRANCE BMD 1 3412 ---54949111 Male Hemizygous FRANCE Asymptomatic 1 3413 ---54949211 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 ---59743011 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 ---91330EO31 Male Hemizygous FRANCE DMD 114 2192 ---91680FW11 Male Hemizygous FRANCE DMD 114 2193 ---91680FW21 Male Hemizygous FRANCE DMD 114
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 ---405304371 Male Hemizygous FRANCE DMD 112 2673 ---72331904351 Male Hemizygous FRANCE DMD 116 3345 ---50751011 Male Hemizygous FRANCE DMD 1 3355 ---54554011 Male Hemizygous FRANCE DMD 1 3403 ---55046011 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 ---51570011 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 ---407705291 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 ---59690011 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 ---50409011 Male Hemizygous - 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 ---912929MA1 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 ---494312071 Male Hemizygous FRANCE DMD 117 2051 ---304900241 Male Hemizygous FRANCE DMD 122 2095 ---9028882m1 Male Hemizygous FRANCE DMD 114 2585 ---9028426m2 Female Heterozygous FRANCE Symptomatic carrier 114 2558 ---71692500531 Male Hemizygous FRANCE DMD 121 66 ---51317011 Male Hemizygous - DMD 119 67 ---51749011 Male Hemizygous - DMD 1
p.Ala765_Asn793del	c.2293_2379del	19	765	CRD-repeat #4		Large rearrangement Deletion from exon 19 to 19	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 202 ---53098011 Male Hemizygous - DMD 1 203 ---53098111 Male Hemizygous - DMD 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 ---402400331 Male Hemizygous FRANCE DMD 112 2312 ---402417511 Male Hemizygous FRANCE DMD 112
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 ---902803611 Male Hemizygous FRANCE BMD 127 1627 ---402601721 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 ---402901771 Male Hemizygous FRANCE DMD 106 2147 ---55790011 Male Hemizygous FRANCE DMD 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 ---55093011 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 ---50217011 Male Hemizygous - DMD 1
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 ---52406011 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 ---4791642821 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 ---91210BG21 Male Hemizygous FRANCE DMD 114 2637 ---401200931 Male Hemizygous FRANCE DMD 106 3364 ---58835011 Male Hemizygous FRANCE DMD 1 3466 ---58628032 Female Heterozygous ISRAEL Symptomatic carrier 1
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 ---90300FA21 Male Hemizygous FRANCE DMD 114 205 ---50263011 Male Hemizygous - DMD 1 3423 ---57593011 Male Hemizygous FRANCE DMD 1 3424 ---57593111 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 ---7234100251 Male Hemizygous FRANCE DMD 121
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 ---403702141 Male Hemizygous FRANCE DMD 106 1931 ---403717761 Male Hemizygous FRANCE DMD 106 2581 ---905228771 Male Hemizygous FRANCE DMD 127 3304 ---58891011 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 ---71384503111 Male Hemizygous FRANCE DMD 119 1769 ---71384501251 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 ---50730011 Male Hemizygous - DMD 1 207 ---52554011 Male Hemizygous FRANCE DMD 1 208 ---52554111 Male Hemizygous FRANCE DMD 1 3255 ---52554211 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 ---3231132861 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 ---806300dm151 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 ---54156011 Male Hemizygous FRANCE BMD 1 531 ---54156111 Male Hemizygous FRANCE BMD 1 3560 ---54156211 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 ---57712011 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 ---52398111 Male Hemizygous - DMD 1 210 ---52398011 Male Hemizygous - DMD 1
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 ---505305581 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 ---9088908m1 Male Hemizygous FRANCE BMD 114
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 ---805097dm011 Male Hemizygous - DMD 113 69 ---51209011 Male Hemizygous FRANCE DMD 1
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 ---307705751 Male Hemizygous FRANCE DMD 115
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 ---916178MA2 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 ---9126031m1 Male Hemizygous FRANCE DMD 114 3161 ---58740032 Female Heterozygous - Symptomatic carrier 1
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 ---7778900551 Male Hemizygous FRANCE DMD 121 3314 ---57678011 Male Hemizygous FRANCE DMD 1 3389 ---59578011 Male Hemizygous ALGERIA DMD 1 3479 ---59745011 Male Hemizygous FRANCE DMD 1 3480 ---59608011 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 ---59714011 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 ---306711531 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 ---91690DE41 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 ---414509381 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 ---309909291 Male Hemizygous FRANCE BMD 115
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 ---304805011 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 ---9007642m1 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 ---92040DN11 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 ---7681400361 Male Hemizygous FRANCE DMD 121 2638 ---408105411 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 ---9068278m1 Male Hemizygous FRANCE DMD 114 211 ---50369011 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 ---7188300231 Male Hemizygous FRANCE Pending 121 2551 ---7188300641 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 ---405908861 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 ---53006032 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 ---54548011 Male Hemizygous - DMD 1 212 ---51911011 Male Hemizygous - IMD 1 1654 ---437519131 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 ---91660DP21 Male Hemizygous FRANCE DMD 114 71 ---51824011 Male Hemizygous - DMD 1 213 ---50581011 Male Hemizygous - DMD 1 752 ---55627011 Male Hemizygous - DMD 1 3053 ---57831011 Male Hemizygous - DMD 1 3334 ---58189011 Male Hemizygous FRANCE DCM 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 ---55342011 Male Hemizygous - DMD 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 ---502701271 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 ---300100011 Male Hemizygous FRANCE DMD 122 2070 ---308500481 Male Hemizygous FRANCE DMD 122 2112 ---90630EK11 Male Hemizygous FRANCE DMD 114 2113 ---90630EK31 Male Hemizygous FRANCE DMD 114 1539 ---402118131 Male Hemizygous FRANCE DMD 112 1573 ---417810561 Male Hemizygous FRANCE DMD 106 1603 ---425214791 Male Hemizygous FRANCE DMD 106 2217 ---920700L41 Male Hemizygous FRANCE DMD 114 2230 ---922700X31 Male Hemizygous FRANCE DMD 114 2231 ---92270X141 Male Hemizygous FRANCE DMD 114 1841 ---305111611 Male Hemizygous FRANCE DMD 115 2489 ---903223891 Male Hemizygous FRANCE DMD 127 2497 ---720950DM91 Male Hemizygous FRANCE DMD 121 2510 ---76013GO651 Male Hemizygous FRANCE DMD 121 6 ---53479012 Female Heterozygous - Symptomatic carrier 1 14 ---51032011 Male Hemizygous - DMD 1 35 ---54063011 Male Hemizygous - DMD 1 37 ---51784011 Male Hemizygous - DMD 1 73 ---50544011 Male Hemizygous - DMD 1 74 ---50748111 Male Hemizygous - DMD 1 75 ---50748011 Male Hemizygous - DMD 1 151 ---51327011 Male Hemizygous FRANCE DMD 119 214 ---50378011 Male Hemizygous FRANCE DMD 1 215 ---50768011 Male Hemizygous - DMD 1 216 ---50858011 Male Hemizygous - DMD 1 217 ---51787011 Male Hemizygous - DMD 1 218 ---51874011 Male Hemizygous - DMD 1 219 ---52635011 Male Hemizygous - DMD 1 220 ---52962011 Male Hemizygous - DMD 1 221 ---53228011 Male Hemizygous - DMD 1 222 ---54017011 Male Hemizygous FRANCE DMD 1 223 ---54047011 Male Hemizygous - DMD 1 224 ---54209011 Male Hemizygous - DMD 1 225 ---54418011 Male Hemizygous - DMD 1 226 ---54460011 Male Hemizygous - DMD 1 227 ---55097011 Male Hemizygous FRANCE DMD 1 1692 ---71868802351 Male Hemizygous FRANCE DMD 116 1728 ---72255904181 Male Hemizygous FRANCE DMD 119 1764 ---71484002431 Male Hemizygous FRANCE DMD 119 982 ---56814011 Male Hemizygous - DMD 1 1010 ---51032111 Male Hemizygous - DMD 1 1251 ---50132011 Male Hemizygous - DMD 1 1270 ---55377011 Male Hemizygous - DMD 1 2824 ---57525011 Male Hemizygous - DMD 1 2825 ---57525111 Male Hemizygous - DMD 1 2980 ---57525011 Male Hemizygous - DMD 1 2981 ---57525111 Male Hemizygous - DMD 1 3003 ---57561011 Male Hemizygous - DMD 1 3076 ---51125011 Male Hemizygous FRANCE DMD 1 3311 ---59247042 Female Heterozygous FRANCE Symptomatic carrier 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 ---51469011 Male Hemizygous - DMD 1 1807 ---301301021 Male Hemizygous FRANCE DMD 115
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 ---405903701 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 ---420503481061 Male Hemizygous FRANCE DMD 117 78 ---51514011 Male Hemizygous - DMD 1 1170 ---57300011 Male Hemizygous - 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 ---305511161 Male Hemizygous FRANCE DMD 115
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 ---59145011 Male Hemizygous FRANCE DMD 1 3242 ---59145111 Male Hemizygous FRANCE DMD 1
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 ---901710591 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 ---71536200191 Male Hemizygous FRANCE DMD 121 1622 ---434118221 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 ---9012001m1 Male Hemizygous FRANCE DMD 114 2325 ---505805691 Male Hemizygous FRANCE DMD 110 1536 ---401702131 Male Hemizygous FRANCE DMD 112 1540 ---402220521 Male Hemizygous FRANCE DMD 112 1567 ---416910281 Male Hemizygous FRANCE DMD 106 1944 ---403524121 Male Hemizygous FRANCE DMD 106 1947 ---406303891 Male Hemizygous FRANCE DMD 106 1975 ---410606701 Male Hemizygous FRANCE DMD 106 2138 ---90870ET11 Male Hemizygous FRANCE DMD 114 2155 ---91140EX21 Male Hemizygous FRANCE Pending 114 2165 ---9123900m1 Male Hemizygous FRANCE DMD 114 2198 ---917500D11 Male Hemizygous FRANCE DMD 114 2212 ---91990FK11 Male Hemizygous FRANCE DMD 114 1826 ---303511771 Male Hemizygous FRANCE DMD 115 1833 ---304307381 Male Hemizygous FRANCE DMD 115 1834 ---304407741 Male Hemizygous FRANCE Pending 115 2313 ---402220531 Male Hemizygous FRANCE DMD 112 2315 ---403715591 Male Hemizygous FRANCE DMD 112 2356 ---435418511 Male Hemizygous FRANCE DMD 106 2399 ---400600461 Male Hemizygous FRANCE Pending 126 2541 ---435423081 Male Hemizygous FRANCE Pending 106 2409 ---401401251 Male Hemizygous FRANCE Pending 126 2410 ---401401261 Male Hemizygous FRANCE Pending 126 2442 ---404805971 Male Hemizygous FRANCE Pending 126 2444 ---405006161 Male Hemizygous FRANCE Pending 126 2525 ---406106581 Male Hemizygous FRANCE Pending 126 2522 ---716445ACY451 Male Hemizygous FRANCE DMD 121 2553 ---7567000101 Male Hemizygous FRANCE DMD 121 2624 ---448824131 Male Hemizygous FRANCE DMD 106 2735 ---408206031 Male Hemizygous FRANCE DMD 112 2738 ---408707651 Male Hemizygous FRANCE DMD 112 2740 ---408904621 Male Hemizygous FRANCE DMD 112 18 ---55366011 Male Hemizygous FRANCE DMD 1 20 ---53314011 Male Hemizygous - DMD 1 28 ---50741011 Male Hemizygous - DMD 1 79 ---52266011 Male Hemizygous FRANCE DMD 1 80 ---53689011 Male Hemizygous - DMD 1 82 ---54101011 Male Hemizygous - DMD 1 152 ---51730011 Male Hemizygous - DMD 1 153 ---51730111 Male Hemizygous - DMD 1 229 ---50287011 Male Hemizygous - DMD 1 230 ---50385011 Male Hemizygous - DMD 1 231 ---50477011 Male Hemizygous - DMD 1 233 ---50725011 Male Hemizygous - DMD 1 234 ---50725111 Male Hemizygous - DMD 1 235 ---51711011 Male Hemizygous - DMD 1 237 ---54328011 Male Hemizygous - DMD 1 238 ---54398011 Male Hemizygous - DMD 1 239 ---54670011 Male Hemizygous - DMD 1 1613 ---402218241 Male Hemizygous FRANCE IMD 106 1653 ---400700551 Male Hemizygous FRANCE DMD 106 1674 ---403715581 Male Hemizygous FRANCE DMD 112 1729 ---72241304131 Male Hemizygous FRANCE DMD 119 1796 ---72043803181 Male Hemizygous FRANCE DMD 119 1798 ---300100931 Male Hemizygous FRANCE DMD 115 1801 ---300410231 Male Hemizygous FRANCE IMD 115 1802 ---300600911 Male Hemizygous FRANCE DMD 115 885 ---56617011 Male Hemizygous - DMD 1 899 ---56640011 Male Hemizygous - DMD 1 1373 ---57077011 Male Hemizygous IRAN DMD 1 1387 ---56510011 Male Hemizygous - DMD 1 2798 ---57473011 Male Hemizygous - DMD 1 2821 ---57506011 Male Hemizygous - DMD 1 2954 ---57473011 Male Hemizygous - DMD 1 2977 ---57506011 Male Hemizygous - DMD 1 3057 ---51452011 Male Hemizygous - DMD 1 3224 ---56723011 Male Hemizygous FRANCE DMD 1 3243 ---58010032 Female Heterozygous ARGENTINA Symptomatic carrier 1 3390 ---59498011 Male Hemizygous EGYPT DMD 1 3432 ---55290011 Male Hemizygous FRANCE DMD 1
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 ---9224636m1 Male Hemizygous FRANCE Pending 114 148 ---50656011 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 ---7939000321 Male Hemizygous FRANCE BMD 121 1999 ---415796205781 Male Hemizygous FRANCE BMD 117 2007 ---48018103701 Male Hemizygous FRANCE BMD 117 2009 ---420476263831 Male Hemizygous FRANCE BMD 117 2309 ---400100321 Male Hemizygous FRANCE BMD 112 2075 ---9004515m1 Male Hemizygous FRANCE Pending 114 2084 ---9015877m1 Male Hemizygous FRANCE BMD 114 1468 ---500403921 Male Hemizygous FRANCE BMD 110 1495 ---503802321 Male Hemizygous FRANCE BMD 110 1502 ---504501791 Male Hemizygous FRANCE BMD 110 1520 ---400100401 Male Hemizygous FRANCE BMD 112 2324 ---400808091 Male Hemizygous FRANCE BMD 112 1526 ---400704591 Male Hemizygous FRANCE BMD 112 1527 ---400808081 Male Hemizygous FRANCE BMD 112 1535 ---401616621 Male Hemizygous FRANCE BMD 112 1597 ---423213331 Male Hemizygous FRANCE BMD 106 1858 ---306911531 Male Hemizygous FRANCE Pending 115 1875 ---309600101 Male Hemizygous FRANCE BMD 115 1876 ---309701841 Male Hemizygous FRANCE BMD 115 1887 ---311044131 Male Hemizygous FRANCE BMD 115 1891 ---311501151 Male Hemizygous FRANCE BMD 115 1892 ---311606011 Male Hemizygous FRANCE BMD 115 1893 ---311606051 Male Hemizygous FRANCE BMD 115 1894 ---311900121 Male Hemizygous FRANCE BMD 115 1898 ---312309271 Male Hemizygous FRANCE BMD 115 1900 ---312509691 Male Hemizygous FRANCE BMD 115 1905 ---802000051 Male Hemizygous - BMD 113 1910 ---804796dm161 Male Hemizygous - BMD 113 1945 ---410710431 Male Hemizygous FRANCE BMD 106 1946 ---410707001 Male Hemizygous FRANCE BMD 106 1968 ---405003071 Male Hemizygous FRANCE BMD 106 2122 ---505552561 Male Hemizygous FRANCE BMD 110 2132 ---9071620c1 Male Hemizygous FRANCE BMD 114 2136 ---9083985m1 Male Hemizygous FRANCE BMD 114 2167 ---912700K71 Male Hemizygous FRANCE BMD 114 2174 ---91320CH21 Male Hemizygous FRANCE BMD 114 2175 ---91320CH31 Male Hemizygous FRANCE BMD 114 2185 ---91570BU11 Male Hemizygous FRANCE BMD 114 2197 ---91730EV21 Male Hemizygous FRANCE BMD 114 2340 ---72513DS681 Male Hemizygous FRANCE BMD 121 2341 ---72513EW901 Male Hemizygous FRANCE BMD 121 2542 ---443121621 Male Hemizygous FRANCE BMD 106 2412 ---401601631 Male Hemizygous FRANCE Pending 126 2413 ---401701701 Male Hemizygous FRANCE Pending 126 2414 ---401802481 Male Hemizygous FRANCE Pending 126 2431 ---403505411 Male Hemizygous FRANCE Pending 126 2467 ---901605681 Male Hemizygous FRANCE BMD 127 2493 ---907607301 Male Hemizygous FRANCE BMD 127 2502 ---718820DF41 Male Hemizygous FRANCE BMD 121 2503 ---71882DR981 Male Hemizygous FRANCE BMD 121 2563 ---7653600911 Male Hemizygous FRANCE BMD 121 2565 ---7899100671 Male Hemizygous FRANCE BMD 121 2617 ---320284291 Male Hemizygous FRANCE BMD 115 2665 ---506606111 Male Hemizygous FRANCE BMD 110 2667 ---507006531 Male Hemizygous FRANCE BMD 110 2668 ---506906481 Male Hemizygous FRANCE Pending 110 2730 ---407501881 Male Hemizygous FRANCE BMD 112 2748 ---410319471 Male Hemizygous FRANCE BMD 112 2753 ---410300751 Male Hemizygous FRANCE BMD 112 2778 ---3219161371 Male Hemizygous FRANCE BMD 115 2782 ---434273817171 Male Hemizygous FRANCE BMD 117 240 ---55038011 Male Hemizygous - BMD 1 1616 ---431417161 Male Hemizygous FRANCE BMD 106 1617 ---431417941 Male Hemizygous FRANCE BMD 106 1680 ---404507671 Male Hemizygous FRANCE BMD 112 1686 ---7C57006441 Male Hemizygous FRANCE BMD 116 407 ---50670111 Male Hemizygous FRANCE BMD 1 413 ---50286011 Male Hemizygous FRANCE BMD 1 414 ---54210011 Male Hemizygous - BMD 1 419 ---54838011 Male Hemizygous FRANCE BMD 1 451 ---50421011 Male Hemizygous FRANCE BMD 1 452 ---51039111 Male Hemizygous FRANCE BMD 1 453 ---51039011 Male Hemizygous FRANCE BMD 1 454 ---51360011 Male Hemizygous FRANCE BMD 1 455 ---51408111 Male Hemizygous FRANCE BMD 1 456 ---51408011 Male Hemizygous FRANCE BMD 1 457 ---51724011 Male Hemizygous FRANCE BMD 1 458 ---51724111 Male Hemizygous FRANCE BMD 1 460 ---53341011 Male Hemizygous FRANCE BMD 1 461 ---55051011 Male Hemizygous FRANCE BMD 1 490 ---51653011 Male Hemizygous FRANCE BMD 1 491 ---51352011 Male Hemizygous FRANCE BMD 1 496 ---51725011 Male Hemizygous FRANCE BMD 1 499 ---52418011 Male Hemizygous FRANCE BMD 1 500 ---53742011 Male Hemizygous FRANCE BMD 1 501 ---54507011 Male Hemizygous FRANCE BMD 1 503 ---51346011 Male Hemizygous FRANCE BMD 1 504 ---51433011 Male Hemizygous FRANCE BMD 1 532 ---50120011 Male Hemizygous FRANCE BMD 1 533 ---50220011 Male Hemizygous - BMD 1 534 ---50335011 Male Hemizygous FRANCE BMD 1 535 ---50337211 Male Hemizygous - BMD 1 536 ---50337111 Male Hemizygous - BMD 1 537 ---50337311 Male Hemizygous - BMD 1 538 ---50425011 Male Hemizygous FRANCE BMD 1 539 ---50465011 Male Hemizygous - BMD 1 540 ---50711011 Male Hemizygous - BMD 1 541 ---50954011 Male Hemizygous - BMD 1 542 ---51019511 Male Hemizygous FRANCE BMD 1 543 ---51102011 Male Hemizygous - BMD 1 544 ---51150011 Male Hemizygous - BMD 1 545 ---51231011 Male Hemizygous FRANCE BMD 1 546 ---51381011 Male Hemizygous - BMD 1 547 ---51381111 Male Hemizygous - BMD 1 548 ---51447011 Male Hemizygous - BMD 1 549 ---51472111 Male Hemizygous FRANCE BMD 1 551 ---51674011 Male Hemizygous FRANCE BMD 1 552 ---51778011 Male Hemizygous FRANCE BMD 1 553 ---52269211 Male Hemizygous - BMD 1 554 ---52269111 Male Hemizygous - BMD 1 555 ---52269011 Male Hemizygous - BMD 1 556 ---52286011 Male Hemizygous FRANCE BMD 1 557 ---52772111 Male Hemizygous FRANCE BMD 1 558 ---52806011 Male Hemizygous - BMD 1 559 ---52815011 Male Hemizygous - BMD 1 560 ---52879011 Male Hemizygous - BMD 1 561 ---53209211 Male Hemizygous - BMD 1 562 ---53209011 Male Hemizygous - BMD 1 564 ---53548011 Male Hemizygous - BMD 1 565 ---53699011 Male Hemizygous - BMD 1 566 ---53745011 Male Hemizygous - BMD 1 567 ---53794011 Male Hemizygous - BMD 1 569 ---53809011 Male Hemizygous - BMD 1 570 ---53923011 Male Hemizygous - BMD 1 572 ---54185011 Male Hemizygous - BMD 1 574 ---54346011 Male Hemizygous - BMD 1 575 ---54810011 Male Hemizygous FRANCE BMD 1 576 ---54831011 Male Hemizygous - BMD 1 577 ---54909011 Male Hemizygous Indian BMD 1 578 ---54909111 Male Hemizygous - BMD 1 579 ---54909211 Male Hemizygous - BMD 1 1004 ---51019111 Male Hemizygous FRANCE BMD 1 1003 ---51019211 Male Hemizygous FRANCE BMD 1 729 ---55489111 Male Hemizygous FRANCE BMD 1 730 ---55489011 Male Hemizygous FRANCE BMD 1 741 ---56251011 Male Hemizygous - BMD 1 796 ---50337011 Male Hemizygous - BMD 1 809 ---51724211 Male Hemizygous FRANCE BMD 1 810 ---51724311 Male Hemizygous FRANCE BMD 1 811 ---51724042 Female Heterozygous FRANCE Symptomatic carrier 1 814 ---53209111 Male Hemizygous - BMD 1 2789 ---50120111 Male Hemizygous FRANCE BMD 1 1002 ---56973011 Male Hemizygous - BMD 1 1005 ---51019011 Male Hemizygous FRANCE IMD 1 1006 ---51019311 Male Hemizygous FRANCE BMD 1 1007 ---51019411 Male Hemizygous FRANCE IMD 1 1049 ---50220111 Male Hemizygous - BMD 1 1101 ---57201011 Male Hemizygous - BMD 1 1104 ---50335111 Male Hemizygous FRANCE BMD 1 1105 ---50335211 Male Hemizygous FRANCE BMD 1 1158 ---50670011 Male Hemizygous FRANCE BMD 1 1267 ---55744011 Male Hemizygous - BMD 1 1269 ---55487011 Male Hemizygous FRANCE BMD 1 1290 ---57263011 Male Hemizygous - BMD 1 1293 ---51019611 Male Hemizygous FRANCE Asymptomatic 1 1382 ---56303011 Male Hemizygous - BMD 1 1383 ---56359011 Male Hemizygous FRANCE BMD 1 2799 ---51724411 Male Hemizygous FRANCE BMD 1 2800 ---53809111 Male Hemizygous - BMD 1 2801 ---53809211 Male Hemizygous - BMD 1 2816 ---57376011 Male Hemizygous FRANCE BMD 1 2826 ---57556011 Male Hemizygous FRANCE BMD 1 2828 ---51472011 Male Hemizygous FRANCE BMD 1 2830 ---52772311 Male Hemizygous FRANCE BMD 1 2831 ---52772011 Male Hemizygous FRANCE BMD 1 2832 ---52772BIS011 Male Hemizygous FRANCE BMD 1 2945 ---50120111 Male Hemizygous FRANCE BMD 1 2955 ---51724411 Male Hemizygous FRANCE BMD 1 2956 ---53809111 Male Hemizygous - BMD 1 2957 ---53809211 Male Hemizygous - BMD 1 2972 ---57376011 Male Hemizygous FRANCE BMD 1 2982 ---57556011 Male Hemizygous FRANCE BMD 1 2984 ---51472011 Male Hemizygous FRANCE BMD 1 2986 ---52772311 Male Hemizygous FRANCE BMD 1 2987 ---52772011 Male Hemizygous FRANCE BMD 1 2988 ---52772BIS011 Male Hemizygous FRANCE BMD 1 2992 ---50141011 Male Hemizygous - BMD 1 2996 ---50141111 Male Hemizygous - BMD 1 2997 ---50141211 Male Hemizygous - BMD 1 3083 ---58100011 Male Hemizygous FRANCE BMD 1 3123 ---52772411 Male Hemizygous FRANCE BMD 1 3172 ---55038111 Male Hemizygous - BMD 1 3190 ---58687011 Male Hemizygous - BMD 1 3198 ---59123011 Male Hemizygous - Pending 1 3215 ---50133011 Male Hemizygous FRANCE BMD 1 3216 ---50133111 Male Hemizygous FRANCE BMD 1 3222 ---51239011 Male Hemizygous FRANCE BMD 1 3240 ---59317011 Male Hemizygous FRANCE BMD 1 3260 ---51472211 Male Hemizygous FRANCE BMD 1 3261 ---51472311 Male Hemizygous FRANCE BMD 1 3267 ---51019711 Male Hemizygous FRANCE BMD 1 3279 ---50286121 Male Hemizygous FRANCE BMD 1 3283 ---59361011 Male Hemizygous JORDAN BMD 1 3285 ---59353011 Male Hemizygous FRANCE BMD 1 3320 ---51166011 Male Hemizygous FRANCE BMD 1 3361 ---58100111 Male Hemizygous FRANCE BMD 1 3391 ---59301011 Male Hemizygous FRANCE DCM 1 3392 ---59078011 Male Hemizygous FRANCE BMD 1 3422 ---50286111 Male Hemizygous FRANCE BMD 1 3429 ---50286311 Male Hemizygous FRANCE BMD 1 3439 ---59661011 Male Hemizygous FRANCE BMD 1 3490 ---50099011 Male Hemizygous FRANCE BMD 1 3496 ---53810011 Male Hemizygous FRANCE BMD 1 3500 ---51724052 Female Heterozygous FRANCE Symptomatic carrier 1 3519 ---58542011 Male Hemizygous FRANCE BMD 1 3569 ---50789011 Male Hemizygous FRANCE BMD 1 3570 ---50789111 Male Hemizygous FRANCE BMD 1 3571 ---50789042 Male Heterozygous FRANCE Asymptomatic 1 2939 ---52772211 Male Hemizygous FRANCE BMD 1 2940 ---52772511 Male Hemizygous FRANCE BMD 1
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 ---71119900941 Male Hemizygous FRANCE BMD 121 1993 ---7344600381 Male Hemizygous FRANCE BMD 121 2034 ---301600071 Male Hemizygous FRANCE BMD 122 2035 ---301600081 Male Hemizygous FRANCE BMD 122 2052 ---305200261 Male Hemizygous FRANCE BMD 122 2078 ---9008389m1 Male Hemizygous FRANCE BMD 114 2087 ---90180DS41 Male Hemizygous FRANCE Pending 114 2088 ---90180DS51 Male Hemizygous FRANCE Pending 114 2107 ---9055963m1 Male Hemizygous FRANCE BMD 114 1500 ---504302581 Male Hemizygous FRANCE Pending 110 1521 ---400213311 Male Hemizygous FRANCE BMD 112 1523 ---400411341 Male Hemizygous FRANCE BMD 112 1525 ---400614951 Male Hemizygous FRANCE BMD 112 1528 ---400918581 Male Hemizygous FRANCE BMD 112 1529 ---401000741 Male Hemizygous FRANCE BMD 112 1531 ---401206991 Male Hemizygous FRANCE BMD 112 1538 ---402017501 Male Hemizygous FRANCE BMD 112 1545 ---402819781 Male Hemizygous FRANCE BMD 112 1870 ---309153121 Male Hemizygous FRANCE BMD 115 1871 ---309109011 Male Hemizygous FRANCE BMD 115 1896 ---312110081 Male Hemizygous FRANCE BMD 115 1899 ---312408911 Male Hemizygous FRANCE BMD 115 1914 ---805397dm121 Male Hemizygous - BMD 113 1920 ---806500dm221 Male Hemizygous - BMD 113 1921 ---806600dm241 Male Hemizygous - BMD 113 1924 ---808503dm271 Male Hemizygous - BMD 113 1936 ---403902361 Male Hemizygous FRANCE BMD 106 1937 ---403902561 Male Hemizygous FRANCE BMD 106 1938 ---404502621 Male Hemizygous FRANCE BMD 106 1965 ---404602661 Male Hemizygous FRANCE BMD 106 1970 ---405303261 Male Hemizygous FRANCE BMD 106 1972 ---405603351 Male Hemizygous FRANCE BMD 106 2141 ---9091395m1 Male Hemizygous FRANCE BMD 114 2144 ---90990ER11 Male Hemizygous FRANCE BMD 114 2148 ---9103212m1 Male Hemizygous FRANCE BMD 114 2150 ---9105614m1 Male Hemizygous FRANCE BMD 114 2154 ---9113019m1 Male Hemizygous FRANCE BMD 114 2156 ---91180CI41 Male Hemizygous FRANCE BMD 114 2159 ---9122BX161 Male Hemizygous FRANCE BMD 114 2160 ---91220BX31 Male Hemizygous FRANCE BMD 114 2161 ---91220BX81 Male Hemizygous FRANCE BMD 114 2162 ---91220BX111 Male Hemizygous FRANCE BMD 114 2163 ---9122BX301 Male Hemizygous FRANCE BMD 114 2164 ---9122BX141 Male Hemizygous FRANCE BMD 114 2171 ---91310CQ11 Male Hemizygous FRANCE BMD 114 2172 ---91310CQ71 Male Hemizygous FRANCE BMD 114 2173 ---9131CQ151 Male Hemizygous FRANCE BMD 114 2182 ---9141824m1 Male Hemizygous FRANCE BMD 114 2186 ---9158255m1 Male Hemizygous FRANCE BMD 114 2203 ---9187929m1 Male Hemizygous FRANCE BMD 114 2213 ---92000GB11 Male Hemizygous FRANCE BMD 114 2226 ---9222481m1 Male Hemizygous FRANCE BMD 114 2328 ---402017511 Male Hemizygous FRANCE BMD 112 2330 ---72515506271 Male Hemizygous FRANCE BMD 116 2331 ---72515507341 Male Hemizygous FRANCE BMD 116 2385 ---432317411 Male Hemizygous FRANCE BMD 106 2422 ---402704241 Male Hemizygous FRANCE Pending 126 2429 ---403305261 Male Hemizygous FRANCE Pending 126 2487 ---907707401 Male Hemizygous FRANCE BMD 127 2490 ---907501511 Male Hemizygous FRANCE BMD 127 2507 ---73133EH141 Male Hemizygous FRANCE BMD 121 2559 ---71754200061 Male Hemizygous FRANCE BMD 121 2567 ---71722900181 Male Hemizygous FRANCE BMD 121 2609 ---447223431 Male Hemizygous FRANCE BMD 106 2652 ---447224721 Male Hemizygous FRANCE BMD 106 2693 ---310809681 Male Hemizygous FRANCE BMD 115 2706 ---507206571 Male Hemizygous FRANCE BMD 110 2717 --- INDIA Symptomatic carrier 128 2720 ---406022381 Male Hemizygous FRANCE BMD 112 2773 ---71982500461 Male Hemizygous FRANCE BMD 121 1673 ---401806131 Male Hemizygous FRANCE BMD 112 1685 ---72515507271 Male Hemizygous FRANCE BMD 116 2333 ---72515506351 Male Hemizygous FRANCE BMD 116 1726 ---72515504751 Male Hemizygous FRANCE BMD 116 1797 ---72720205151 Male Hemizygous FRANCE BMD 116 420 ---52566011 Male Hemizygous FRANCE BMD 1 424 ---54141111 Male Hemizygous FRANCE BMD 1 426 ---54141011 Male Hemizygous FRANCE BMD 1 434 ---51817011 Male Hemizygous FRANCE BMD 9 462 ---50161011 Male Hemizygous FRANCE BMD 1 463 ---50970011 Male Hemizygous FRANCE BMD 1 464 ---51340011 Male Hemizygous FRANCE BMD 1 465 ---51640011 Male Hemizygous - BMD 1 466 ---51908011 Male Hemizygous FRANCE BMD 1 467 ---51985011 Male Hemizygous - BMD 1 468 ---52183011 Male Hemizygous FRANCE BMD 1 469 ---53431011 Male Hemizygous FRANCE BMD 1 470 ---54512011 Male Hemizygous FRANCE BMD 1 471 ---55110011 Male Hemizygous FRANCE BMD 1 482 ---54276011 Male Hemizygous FRANCE BMD 1 495 ---52210011 Male Hemizygous FRANCE BMD 1 497 ---51706011 Male Hemizygous FRANCE BMD 1 571 ---53980011 Male Hemizygous ALGERIA BMD 1 580 ---50317011 Male Hemizygous FRANCE BMD 1 581 ---50776011 Male Hemizygous FRANCE BMD 1 582 ---50776211 Male Hemizygous FRANCE BMD 1 583 ---50911011 Male Hemizygous FRANCE BMD 1 584 ---51340411 Male Hemizygous FRANCE BMD 1 585 ---51347011 Male Hemizygous FRANCE BMD 1 586 ---51562011 Male Hemizygous FRANCE BMD 1 587 ---51619111 Male Hemizygous FRANCE BMD 1 588 ---51619011 Male Hemizygous FRANCE BMD 1 589 ---51990011 Male Hemizygous FRANCE BMD 1 590 ---52238011 Male Hemizygous - BMD 1 591 ---52433011 Male Hemizygous - BMD 1 593 ---53184011 Male Hemizygous - BMD 1 594 ---53924011 Male Hemizygous - BMD 1 595 ---54139011 Male Hemizygous - BMD 1 596 ---54263011 Male Hemizygous - BMD 1 597 ---54278011 Male Hemizygous - BMD 1 598 ---54342011 Male Hemizygous - BMD 1 599 ---54816011 Male Hemizygous - BMD 1 600 ---54849011 Male Hemizygous - BMD 1 817 ---50776111 Male Hemizygous FRANCE BMD 1 867 ---56575011 Male Hemizygous - BMD 1 886 ---56134011 Male Hemizygous - BMD 1 1046 ---50161111 Male Hemizygous FRANCE BMD 1 1124 ---50317111 Male Hemizygous FRANCE BMD 1 1125 ---50317211 Male Hemizygous FRANCE BMD 1 1126 ---50317311 Male Hemizygous FRANCE BMD 1 1226 ---57248011 Male Hemizygous - BMD 1 1365 ---51340011 Male Hemizygous FRANCE BMD 1 1366 ---51340211 Male Hemizygous FRANCE BMD 1 1367 ---51340311 Male Hemizygous FRANCE BMD 1 1375 ---56738011 Male Hemizygous - BMD 1 2792 ---51817011 Male Hemizygous FRANCE BMD 9 2802 ---51562042 Female Heterozygous FRANCE Symptomatic carrier 1 2803 ---51990111 Male Hemizygous FRANCE BMD 1 2804 ---51990211 Male Hemizygous FRANCE BMD 1 1481 ---54849111 Male Hemizygous - BMD 1 2948 ---51817011 Male Hemizygous FRANCE BMD 9 2958 ---51562042 Female Heterozygous FRANCE Symptomatic carrier 1 2959 ---51990111 Male Hemizygous FRANCE BMD 1 2960 ---51990211 Male Hemizygous FRANCE BMD 1 3008 ---57304011 Male Hemizygous FRANCE BMD 1 3054 ---57630011 Male Hemizygous FRANCE BMD 1 3082 ---57995011 Male Hemizygous FRANCE BMD 1 3167 ---50972011 Male Hemizygous - BMD 1 3194 ---59057011 Male Hemizygous FRANCE BMD 1 3257 ---50161211 Male Hemizygous FRANCE BMD 1 3319 ---59344011 Male Hemizygous FRANCE BMD 1 3348 ---59349011 Male Hemizygous FRANCE BMD 1 3356 ---52186011 Male Hemizygous FRANCE BMD 1 3458 ---59632011 Male Hemizygous FRANCE BMD 1 3535 ---52593011 Male Hemizygous FRANCE BMD 1 2851 ---52364011 Male Hemizygous FRANCE BMD 1 2927 ---510210011 Male Hemizygous FRANCE BMD 1 2930 ---55762011 Male Hemizygous FRANCE BMD 1 2931 ---55762111 Male Hemizygous FRANCE BMD 1 2932 ---55762211 Male Hemizygous FRANCE Pending 1 2934 ---510172011 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 ---7163300421 Male Hemizygous FRANCE BMD 121 1991 ---7163300431 Male Hemizygous FRANCE BMD 121 1996 ---402602641 Male Hemizygous FRANCE BMD 117 2079 ---90090DH11 Male Hemizygous FRANCE BMD 114 2080 ---90090DH31 Male Hemizygous FRANCE BMD 114 1470 ---506004801 Male Hemizygous FRANCE BMD 110 1471 ---502402601 Male Hemizygous FRANCE BMD 110 2219 ---9211007m1 Male Hemizygous FRANCE BMD 114 2418 ---402403431 Male Hemizygous FRANCE Pending 126 2755 ---410809281 Male Hemizygous FRANCE BMD 112 2781 ---49988104731 Male Hemizygous FRANCE BMD 117 241 ---54638011 Male Hemizygous - BMD 1 1721 ---7285001011 Male Hemizygous FRANCE BMD 116 1722 ---7285006701 Male Hemizygous FRANCE BMD 116 1747 ---7285004731 Male Hemizygous FRANCE BMD 116 1789 ---7285001511 Male Hemizygous FRANCE BMD 116 1790 ---7285002821 Male Hemizygous FRANCE BMD 116 405 ---54717011 Male Hemizygous - BMD 1 472 ---50360011 Male Hemizygous FRANCE BMD 1 473 ---50360111 Male Hemizygous FRANCE BMD 1 474 ---54391011 Male Hemizygous FRANCE BMD 1 494 ---51348011 Male Hemizygous FRANCE BMD 1 601 ---50447011 Male Hemizygous - BMD 1 602 ---50447111 Male Hemizygous - BMD 1 603 ---50447211 Male Hemizygous - BMD 1 1143 ---50447311 Male Hemizygous - BMD 1 605 ---50737211 Male Hemizygous FRANCE BMD 1 606 ---51811011 Male Hemizygous - BMD 1 607 ---52707011 Male Hemizygous - BMD 1 608 ---52734011 Male Hemizygous - BMD 1 1164 ---50737011 Male Hemizygous FRANCE BMD 1 1165 ---50737111 Male Hemizygous FRANCE BMD 1 1350 ---51811111 Male Hemizygous - BMD 1 1371 ---51783011 Male Hemizygous FRANCE BMD 1 1385 ---56504011 Male Hemizygous - BMD 1 2793 ---54391111 Male Hemizygous FRANCE BMD 1 2949 ---54391111 Male Hemizygous FRANCE BMD 1 3232 ---58135011 Male Hemizygous ITALIA Pending 1 3254 ---50985011 Male Hemizygous FRANCE BMD 1 3263 ---50737311 Male Hemizygous FRANCE BMD 1 3281 ---59187011 Male Hemizygous FRANCE BMD 1 3286 ---59035011 Male Hemizygous FRANCE BMD 1 3287 ---59035111 Male Hemizygous FRANCE BMD 1 3440 ---50737411 Male Hemizygous FRANCE BMD 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 ---48204108071 Male Hemizygous FRANCE DMD 117 2033 ---301400061 Male Hemizygous FRANCE DMD 122 2049 ---304300221 Male Hemizygous FRANCE DMD 122 1496 ---503901081 Male Hemizygous FRANCE DMD 110 1933 ---403001811 Male Hemizygous FRANCE DMD 106 1969 ---405203151 Male Hemizygous FRANCE DMD 106 2179 ---9136573m1 Male Hemizygous FRANCE DMD 114 1824 ---303308951 Male Hemizygous FRANCE DMD 115 1825 ---303403541 Male Hemizygous FRANCE DMD 115 2337 ---7C204607291 Male Hemizygous FRANCE DMD 116 2342 ---721980DM41 Male Hemizygous FRANCE Pending 121 2343 ---72181LR411 Male Hemizygous FRANCE DMD 121 2344 ---72181LR391 Male Hemizygous FRANCE DMD 121 2425 ---403004821 Male Hemizygous FRANCE Pending 126 2531 ---408708181 Male Hemizygous FRANCE Pending 126 2530 ---408407951 Male Hemizygous FRANCE Pending 126 2524 ---405906431 Male Hemizygous FRANCE DMD 127 2523 ---716526ADA451 Male Hemizygous FRANCE DMD 121 2643 ---3210113231 Male Hemizygous FRANCE DMD 115 2713 ---411007641 Male Hemizygous FRANCE DMD 112 2777 ---3224164241 Male Hemizygous FRANCE DMD 115 83 ---50852011 Male Hemizygous - DMD 1 84 ---53427011 Male Hemizygous - DMD 1 242 ---50192011 Male Hemizygous FRANCE DMD 1 243 ---50643011 Male Hemizygous FRANCE DMD 1 245 ---51489011 Male Hemizygous - DMD 1 246 ---51779011 Male Hemizygous - DMD 1 247 ---51947011 Male Hemizygous - DMD 1 248 ---51951011 Male Hemizygous FRANCE DMD 1 249 ---52424011 Male Hemizygous FRANCE DMD 1 250 ---54750011 Male Hemizygous FRANCE DMD 1 1645 ---409006111 Male Hemizygous FRANCE DMD 106 1681 ---72192304521 Male Hemizygous FRANCE DMD 116 1699 ---71546200041 Male Hemizygous FRANCE DMD 116 1766 ---72710505111 Male Hemizygous FRANCE DMD 116 1772 ---7C56506431 Male Hemizygous FRANCE DMD 116 1800 ---300307401 Male Hemizygous FRANCE DMD 115 1813 ---301911361 Male Hemizygous FRANCE DMD 115 1814 ---301911601 Male Hemizygous FRANCE DMD 115 1037 ---55537011 Male Hemizygous FRANCE DMD 1 1040 ---56014011 Male Hemizygous FRANCE DMD 1 1045 ---56666011 Male Hemizygous FRANCE DMD 1 1061 ---57059011 Male Hemizygous LEIBANON DMD 1 1289 ---57328011 Male Hemizygous FRANCE DMD 1 1579 ---57470011 Male Hemizygous FRANCE DMD 1 3012 ---50792011 Male Hemizygous - DMD 1 1714 ---51041011 Male Hemizygous FRANCE DMD 1 3186 ---58653011 Male Hemizygous - DMD 1 3196 ---59083011 Male Hemizygous FRANCE DMD 1 3282 ---59424011 Male Hemizygous FRANCE DMD 1 3369 ---58535011 Male Hemizygous ITALIA DMD 1 3374 ---50240011 Male Hemizygous FRANCE DMD 1 3379 ---50659011 Male Hemizygous FRANCE DMD 1 2440 ---51302011 Male Hemizygous FRANCE DMD 1 3465 ---59773011 Male Hemizygous ROMANIA DMD 1 3501 ---54353011 Male Hemizygous FRANCE DMD 1 2937 ---510249011 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 ---410211130541 Male Hemizygous FRANCE Pending 117 1490 ---503203781 Male Hemizygous FRANCE BMD 110 2133 ---9078837m1 Male Hemizygous FRANCE BMD 114 1823 ---303203681 Male Hemizygous FRANCE DMD 115 1837 ---304711511 Male Hemizygous FRANCE Pending 115 2319 ---405106781 Male Hemizygous FRANCE BMD 112 2538 ---445022561 Male Hemizygous FRANCE BMD 106 2526 ---406806841 Male Hemizygous FRANCE Pending 126 2629 ---100200021 Male Hemizygous FRANCE BMD 128 2649 ---450324771 Male Hemizygous FRANCE Pending 106 421 ---53461011 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 ---414308186611 Male Hemizygous FRANCE DMD 117 2074 ---9003906m1 Male Hemizygous FRANCE DMD 114 1498 ---504102871 Male Hemizygous FRANCE DMD 110 1578 ---418610981 Male Hemizygous LEIBANON DMD 106 1867 ---308800591 Male Hemizygous FRANCE Pending 115 1868 ---308800531 Male Hemizygous FRANCE Pending 115 1884 ---310502961 Male Hemizygous FRANCE Pending 115 1948 ---406203851 Male Hemizygous FRANCE DMD 106 1966 ---404702731 Male Hemizygous FRANCE DMD 106 2200 ---9178110m1 Male Hemizygous FRANCE DMD 114 1832 ---304204481 Male Hemizygous FRANCE DMD 115 2359 ---418611001 Male Hemizygous LEIBANON DMD 106 2368 ---90790AJ31 Male Hemizygous FRANCE DMD 114 2392 ---442621491 Male Hemizygous FRANCE DMD 106 2506 ---77336LL681 Male Hemizygous FRANCE DMD 121 2520 ---715595ACD941 Male Hemizygous FRANCE DMD 121 2635 ---100800081 Male Hemizygous FRANCE DMD 128 3 ---51415012 Female Heterozygous FRANCE Symptomatic carrier 11 77 ---50364011 Male Hemizygous - DMD 1 85 ---50650011 Male Hemizygous - DMD 1 86 ---51402011 Male Hemizygous - DMD 1 87 ---52248011 Male Hemizygous - DMD 1 88 ---54131011 Male Hemizygous - DMD 1 252 ---50361011 Male Hemizygous FRANCE DMD 1 253 ---50678011 Male Hemizygous - DMD 1 254 ---50681011 Male Hemizygous - DMD 1 255 ---50874011 Male Hemizygous FRANCE DMD 1 256 ---51709011 Male Hemizygous - DMD 1 257 ---51745011 Male Hemizygous - DMD 1 258 ---51838011 Male Hemizygous FRANCE DMD 1 259 ---51892011 Male Hemizygous - DMD 119 260 ---53239011 Male Hemizygous - DMD 1 261 ---54105011 Male Hemizygous - DMD 1 262 ---54619011 Male Hemizygous FRANCE DMD 1 263 ---55077011 Male Hemizygous - DMD 1 264 ---55172011 Male Hemizygous - DMD 1 1718 ---7C60106651 Male Hemizygous FRANCE DMD 116 1780 ---72186603991 Male Hemizygous FRANCE DMD 116 1811 ---301708071 Male Hemizygous FRANCE DMD 115 986 ---56503011 Male Hemizygous - DMD 1 1041 ---56156011 Male Hemizygous - DMD 1 1060 ---57046011 Male Hemizygous - DMD 1 1079 ---57102011 Male Hemizygous - DMD 1 1080 ---57102111 Male Hemizygous - DMD 1 1127 ---50364111 Male Hemizygous - DMD 1 1155 ---50650111 Male Hemizygous - DMD 1 3185 ---58651011 Male Hemizygous - DMD 1 3228 ---50495011 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 ---417202222971 Male Hemizygous FRANCE BMD 117 1485 ---501904481 Male Hemizygous FRANCE BMD 110 1522 ---400309231 Male Hemizygous FRANCE BMD 112 1549 ---403214971 Male Hemizygous FRANCE Pending 112 1879 ---310007601 Male Hemizygous FRANCE BMD 115 1889 ---311203871 Male Hemizygous FRANCE BMD 115 1895 ---312006301 Male Hemizygous FRANCE BMD 115 1939 ---403101971 Male Hemizygous FRANCE BMD 106 1940 ---403101891 Male Hemizygous FRANCE BMD 106 1941 ---403102031 Male Hemizygous FRANCE BMD 106 1942 ---403101961 Male Hemizygous FRANCE BMD 106 2117 ---505005381 Male Hemizygous FRANCE BMD 110 2151 ---9109321m1 Male Hemizygous FRANCE BMD 114 2594 ---4CM100C21 Male Hemizygous FRANCE BMD 106 2465 ---901914341 Male Hemizygous FRANCE BMD 127 2568 ---71729000481 Male Hemizygous FRANCE BMD 121 2678 ---453626321 Male Hemizygous FRANCE BMD 106 2763 ---452825781 Male Hemizygous FRANCE BMD 106 2784 ---801096dm201 Male Hemizygous FRANCE BMD 113 2572 ---7818100851 Male Hemizygous FRANCE BMD 116 1816 ---302201741 Male Hemizygous FRANCE BMD 115 427 ---51156011 Male Hemizygous - BMD 1 428 ---54358011 Male Hemizygous FRANCE BMD 1 475 ---51177011 Male Hemizygous - BMD 1 476 ---51580011 Male Hemizygous - BMD 1 477 ---51891011 Male Hemizygous FRANCE BMD 1 478 ---52334011 Male Hemizygous FRANCE BMD 1 610 ---50275111 Male Hemizygous FRANCE BMD 1 611 ---52189111 Male Hemizygous - BMD 1 612 ---52189011 Male Hemizygous - BMD 1 613 ---54117011 Male Hemizygous FRANCE BMD 1 614 ---54129011 Male Hemizygous - BMD 1 615 ---54129111 Male Hemizygous - BMD 1 616 ---54880011 Male Hemizygous - BMD 1 697 ---55550011 Male Hemizygous FRANCE BMD 1 757 ---56665011 Male Hemizygous FRANCE BMD 1 788 ---52189211 Male Hemizygous - BMD 1 977 ---55550111 Male Hemizygous FRANCE BMD 1 978 ---55550211 Male Hemizygous FRANCE BMD 1 979 ---55550311 Male Hemizygous FRANCE BMD 1 1076 ---50275011 Male Hemizygous FRANCE BMD 1 1077 ---50275032 Female Heterozygous FRANCE Symptomatic carrier 1 2794 ---51580111 Male Hemizygous - BMD 1 2950 ---51580111 Male Hemizygous - BMD 1 3047 ---57522011 Male Hemizygous FRANCE BMD 1 3048 ---53329011 Male Hemizygous FRANCE BMD 1 3173 ---55550411 Male Hemizygous FRANCE BMD 1 3174 ---55550511 Male Hemizygous FRANCE BMD 1 3431 ---53250011 Male Hemizygous FRANCE IMD 1 3582 ---56665111 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 ---413208151 Male Hemizygous LEIBANON DMD 106 1513 ---413208161 Male Hemizygous LEIBANON DMD 106 1574 ---418010741 Male Hemizygous FRANCE DMD 106 1869 ---309000771 Male Hemizygous FRANCE Pending 115 2140 ---90900FL11 Male Hemizygous FRANCE DMD 114 2196 ---9172487m1 Male Hemizygous FRANCE Pending 114 2235 ---9234953m1 Male Hemizygous FRANCE DMD 114 2366 ---9053796m1 Male Hemizygous FRANCE DMD 114 89 ---50392011 Male Hemizygous FRANCE DMD 119 265 ---50883011 Male Hemizygous - DMD 1 266 ---50883111 Male Hemizygous - DMD 1 267 ---51741011 Male Hemizygous - DMD 1 268 ---51902011 Male Hemizygous - DMD 1 1697 ---71573200031 Male Hemizygous FRANCE DMD 116 1134 ---50392111 Male Hemizygous - DMD 1 2818 ---57500011 Male Hemizygous - DMD 1 2974 ---57500011 Male Hemizygous - DMD 1 3042 ---58006011 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 ---401406881 Male Hemizygous FRANCE BMD 112 1557 ---412107421 Male Hemizygous FRANCE BMD 106 1583 ---419911621 Male Hemizygous FRANCE BMD 106 1599 ---424113681 Male Hemizygous FRANCE BMD 106 1874 ---309501801 Male Hemizygous FRANCE BMD 115 1903 ---801500031 Male Hemizygous - BMD 113 1917 ---805900dm011 Male Hemizygous - BMD 113 1976 ---411106871 Male Hemizygous FRANCE BMD 106 1977 ---411108421 Male Hemizygous FRANCE BMD 106 2221 ---9213794m1 Male Hemizygous FRANCE BMD 114 2334 ---72893107461 Male Hemizygous FRANCE BMD 116 2547 ---71066400431 Male Hemizygous FRANCE Pending 121 2546 ---71137500181 Male Hemizygous FRANCE BMD 121 2455 ---424121471 Male Hemizygous FRANCE BMD 106 2456 ---308200441 Male Hemizygous FRANCE BMD 122 2471 ---906910021 Male Hemizygous FRANCE BMD 127 2615 ---3201259681 Male Hemizygous FRANCE BMD 115 2616 ---3201247351 Male Hemizygous FRANCE BMD 115 2646 ---100900091 Male Hemizygous FRANCE BMD 128 2776 ---3232165751 Male Hemizygous FRANCE Pending 115 2779 ---3212160341 Male Hemizygous FRANCE BMD 115 1639 ---407805341 Male Hemizygous FRANCE BMD 106 1640 ---407805351 Male Hemizygous FRANCE BMD 106 1745 ---72893105601 Male Hemizygous FRANCE BMD 116 1787 ---72893105731 Male Hemizygous FRANCE BMD 116 425 ---52293011 Male Hemizygous FRANCE Asymptomatic 1 429 ---50547011 Male Hemizygous FRANCE BMD 1 430 ---52288011 Male Hemizygous FRANCE BMD 1 431 ---52288111 Male Hemizygous FRANCE BMD 1 479 ---51916011 Male Hemizygous FRANCE BMD 1 480 ---53900011 Male Hemizygous FRANCE BMD 1 481 ---55074011 Male Hemizygous FRANCE BMD 1 617 ---52359011 Male Hemizygous - BMD 1 618 ---52556011 Male Hemizygous FRANCE BMD 1 619 ---52556211 Male Hemizygous FRANCE BMD 1 620 ---53875011 Male Hemizygous FRANCE BMD 1 621 ---54249011 Male Hemizygous FRANCE BMD 1 622 ---54664011 Male Hemizygous FRANCE BMD 1 813 ---52556111 Male Hemizygous FRANCE BMD 1 1097 ---56929011 Male Hemizygous FRANCE BMD 1 1264 ---54679011 Male Hemizygous FRANCE BMD 1 1377 ---54520011 Male Hemizygous - BMD 1 1378 ---54520111 Male Hemizygous - BMD 1 1379 ---54520211 Male Hemizygous - BMD 1 1380 ---54520311 Male Hemizygous - BMD 1 1381 ---54520411 Male Hemizygous - BMD 1 2795 ---55074111 Male Hemizygous FRANCE BMD 1 2951 ---55074111 Male Hemizygous FRANCE BMD 1 3193 ---58935011 Male Hemizygous - BMD 1 3256 ---51916111 Male Hemizygous FRANCE BMD 1 3284 ---56373011 Male Hemizygous FRANCE BMD 1 3346 ---52556311 Male Hemizygous FRANCE BMD 1 3358 ---52359111 Male Hemizygous FRANCE BMD 1 2868 ---59573011 Male Hemizygous FRANCE BMD 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 ---58663011 Male Hemizygous ITALIA DMD 1 2708 ---50676011 Male Hemizygous FRANCE BMD 1
p.Leu2206StopfsX4	c.6615_11055del	45-46	2205	CRD-repeat #17		Large rearrangement Deletion from exon 46 to 79	Fr.	Stop at 2209	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1247 ---51521011 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 ---500203341 Male Hemizygous FRANCE DMD 110 90 ---52208011 Male Hemizygous - DMD 1 269 ---52550011 Male Hemizygous - DMD 1 270 ---52550111 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 ---45158534951 Male Hemizygous FRANCE DMD 117 2103 ---9046140m1 Male Hemizygous FRANCE DMD 114 1510 ---413608501 Male Hemizygous FRANCE DMD 106 1550 ---403300281 Male Hemizygous FRANCE DMD 112 1589 ---421012141 Male Hemizygous FRANCE DMD 106 1901 ---800297dm151 Male Hemizygous - Pending 113 2218 ---92080AT31 Male Hemizygous FRANCE DMD 114 1827 ---303603101 Male Hemizygous FRANCE DMD 115 1830 ---304012481 Male Hemizygous FRANCE DMD 115 1849 ---305905701 Male Hemizygous FRANCE DMD 115 2378 ---9237192MA1 Male Hemizygous FRANCE Pending 114 2379 ---9237191MA1 Male Hemizygous FRANCE Pending 114 2517 ---714679ABF431 Male Hemizygous TUNISIA DMD 121 2564 ---7858000851 Male Hemizygous FRANCE DMD 121 2680 ---454526451 Male Hemizygous FRANCE DMD 106 17 ---55215011 Male Hemizygous - DMD 1 91 ---51531011 Male Hemizygous - DMD 1 92 ---51806011 Male Hemizygous FRANCE DMD 1 93 ---53743011 Male Hemizygous - DMD 1 272 ---50340011 Male Hemizygous - DMD 1 273 ---50476011 Male Hemizygous - DMD 1 274 ---50696011 Male Hemizygous - DMD 1 276 ---51788011 Male Hemizygous - DMD 1 1684 ---72042103161 Male Hemizygous FRANCE DMD 119 863 ---56369011 Male Hemizygous - DMD 1 898 ---56632011 Male Hemizygous - DMD 1 1351 ---56607011 Male Hemizygous - DMD 1 2822 ---57511011 Male Hemizygous - DMD 1 2978 ---57511011 Male Hemizygous - DMD 1 3050 ---50781011 Male Hemizygous - DMD 1 3180 ---58129011 Male Hemizygous FRANCE DMD 1 3184 ---58650011 Male Hemizygous - DMD 1 3278 ---50738011 Male Hemizygous FRANCE DMD 1 3395 ---59506011 Male Hemizygous FRANCE Pending 1 3529 ---59817011 Male Hemizygous FRANCE DMD 1 3585 ---50210052 Female Heterozygous FRANCE Symptomatic carrier 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 ---9014103m1 Male Hemizygous FRANCE DMD 114 2101 ---90420FJ11 Male Hemizygous FRANCE DMD 114 2104 ---9047120MA1 Male Hemizygous FRANCE Pending 114 1497 ---504000331 Male Hemizygous FRANCE DMD 110 1847 ---3057204301 Male Hemizygous FRANCE DMD 115 2494 ---506305861 Male Hemizygous FRANCE DMD 110 2499 ---72022DI201 Male Hemizygous FRANCE DMD 121 2733 ---408008801 Male Hemizygous FRANCE DMD 112 94 ---52311011 Male Hemizygous - DMD 1 277 ---51376011 Male Hemizygous - DMD 119 279 ---52833011 Male Hemizygous - DMD 1 280 ---53109011 Male Hemizygous SAUDI ARABIA DMD 1 896 ---51420011 Male Hemizygous - DMD 1 2813 ---56377011 Male Hemizygous - DMD 1 2969 ---56377011 Male Hemizygous - DMD 1 1749 ---50608011 Male Hemizygous - DMD 1 3182 ---58547012 Female Heterozygous - Symptomatic carrier 1 3197 ---59084011 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 ---90700CX21 Male Hemizygous FRANCE DMD 114 2153 ---9111499m1 Male Hemizygous FRANCE DMD 114 2470 ---901811081 Male Hemizygous FRANCE DMD 127 2566 ---71703600681 Male Hemizygous FRANCE DMD 121 2674 ---78144708041 Male Hemizygous FRANCE DMD 116 1096 ---51139011 Male Hemizygous - DMD 1 283 ---51275011 Male Hemizygous - DMD 1 284 ---53064011 Male Hemizygous - DMD 1 285 ---53093011 Male Hemizygous - DMD 1 734 ---56013011 Male Hemizygous - DMD 1 1035 ---55422011 Male Hemizygous - DMD 1 1389 ---50324011 Male Hemizygous - DMD 1 3043 ---57775011 Male Hemizygous - DMD 1 3351 ---50721011 Male Hemizygous FRANCE DMD 1 2838 ---51046011 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 ---9019898m1 Male Hemizygous FRANCE DMD 114 2099 ---903846MA1 Male Hemizygous FRANCE DMD 114 2438 ---404305681 Male Hemizygous FRANCE Pending 126 2685 ---3221124021 Male Hemizygous FRANCE DMD 115 2785 ---81148dm091 Male Hemizygous FRANCE Pending 113 96 ---52411011 Male Hemizygous - DMD 1 97 ---53583011 Male Hemizygous - DMD 1 98 ---55316011 Male Hemizygous ALGERIA DMD 1 286 ---50848011 Male Hemizygous - DMD 1 287 ---51950011 Male Hemizygous - DMD 1 288 ---53083011 Male Hemizygous - DMD 1 299 ---50927011 Male Hemizygous - DMD 119 300 ---52596011 Male Hemizygous - DMD 1 1652 ---406804321 Male Hemizygous FRANCE DMD 106 1688 ---7C24906821 Male Hemizygous FRANCE DMD 116 1808 ---301401051 Male Hemizygous FRANCE DMD 115 1810 ---3016215381 Male Hemizygous FRANCE DMD 115 1812 ---301810641 Male Hemizygous FRANCE Pending 115 742 ---53896011 Male Hemizygous - DMD 1 887 ---56394011 Male Hemizygous - DMD 1 3124 ---58298011 Male Hemizygous FRANCE IMD 1 3169 ---51664011 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 ---71340100461 Male Hemizygous FRANCE DMD 121 1997 ---411330169841 Male Hemizygous FRANCE DMD 117 2014 ---416977220161 Male Hemizygous FRANCE DMD 117 2015 ---416411213461 Male Hemizygous FRANCE DMD 117 2100 ---90410FU21 Male Hemizygous FRANCE DMD 114 1473 ---502604561 Male Hemizygous FRANCE DMD 110 2228 ---9225181m1 Male Hemizygous FRANCE DMD 114 2229 ---9225182m1 Male Hemizygous FRANCE DMD 114 1835 ---304504701 Male Hemizygous FRANCE DMD 115 2462 ---908411621 Male Hemizygous FRANCE DMD 127 2498 ---72037DI661 Male Hemizygous FRANCE DMD 121 2756 ---410906971 Male Hemizygous FRANCE DMD 112 2780 ---440764806691 Male Hemizygous FRANCE DMD 117 99 ---51444011 Male Hemizygous - DMD 1 100 ---53547011 Male Hemizygous - DMD 1 101 ---54231011 Male Hemizygous FRANCE DMD 1 290 ---50458011 Male Hemizygous - DMD 1 291 ---50744011 Male Hemizygous - DMD 1 292 ---50773011 Male Hemizygous FRANCE DMD 1 293 ---52739011 Male Hemizygous - DMD 1 294 ---54407011 Male Hemizygous - DMD 1 1773 ---71495401591 Male Hemizygous FRANCE DMD 119 1774 ---71495401601 Male Hemizygous FRANCE DMD 116 1819 ---302802651 Male Hemizygous FRANCE DMD 115 1171 ---50744111 Male Hemizygous - DMD 1 1216 ---50458111 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 ---412007591 Male Hemizygous FRANCE DMD 106 1904 ---801700041 Male Hemizygous - DMD 113 1963 ---402501711 Male Hemizygous FRANCE DMD 106 1848 ---305810991 Male Hemizygous FRANCE DMD 115 102 ---51455011 Male Hemizygous FRANCE DMD 1 103 ---51967011 Male Hemizygous - DMD 1 296 ---52452011 Male Hemizygous - DMD 1 1029 ---51750011 Male Hemizygous - DMD 1 3096 ---58362011 Male Hemizygous - DMD 1 3187 ---58654011 Male Hemizygous - DMD 1 1988 ---58768011 Male Hemizygous FRANCE DMD 1 3329 ---55234011 Male Hemizygous FRANCE DMD 1 3456 ---59748011 Male Hemizygous FRANCE DMD 1 3495 ---59795011 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 ---806000dm111 Male Hemizygous - DMD 113 2137 ---908680MA1 Male Hemizygous FRANCE DMD 114 104 ---53138011 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 ---51854011 Male Hemizygous - DMD 1 1707 ---72241204141 Male Hemizygous FRANCE DMD 119 1731 ---7833100881 Male Hemizygous FRANCE DMD 116
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 ---306806631 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 ---9026684m1 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 ---72597904932 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 ---9100887m1 Male Hemizygous FRANCE DMD 114 7 ---52900012 Female Heterozygous - Symptomatic carrier 1 301 ---54322011 Male Hemizygous FRANCE DMD 1 2805 ---52900112 Female Heterozygous - Symptomatic carrier 1 2961 ---52900112 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 ---100500051 Male Hemizygous FRANCE Pending 128 1817 ---302609201 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 ---47516177741 Male Hemizygous FRANCE DMD 117 2402 ---400900581 Male Hemizygous FRANCE Pending 126 2411 ---401501541 Male Hemizygous FRANCE Pending 126 302 ---50268011 Male Hemizygous - DMD 1 1717 ---71570202341 Male Hemizygous FRANCE DMD 119
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 ---7759100141 Male Hemizygous FRANCE Pending 121 2327 ---506205701 Male Hemizygous FRANCE BMD 110 1551 ---403509101 Male Hemizygous FRANCE BMD 112 1877 ---309810061 Male Hemizygous FRANCE BMD 115 1890 ---311406111 Male Hemizygous FRANCE BMD 115 1922 ---806801dm031 Male Hemizygous - BMD 113 1923 ---806801dm041 Male Hemizygous - BMD 113 2199 ---9177102m1 Male Hemizygous FRANCE BMD 114 2533 ---409208401 Male Hemizygous FRANCE Pending 126 2501 ---71901IX521 Male Hemizygous FRANCE BMD 121 2648 ---450424901 Male Hemizygous FRANCE Pending 106 2651 ---449024171 Male Hemizygous FRANCE BMD 106 2736 ---408320651 Male Hemizygous FRANCE BMD 112 2769 ---455226621 Male Hemizygous FRANCE BMD 106 1682 ---71553802131 Male Hemizygous FRANCE BMD 116 3181 ---58256011 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 ---413097207141 Male Hemizygous FRANCE BMD 117 2053 ---305300271 Male Hemizygous FRANCE BMD 122 1530 ---401101211 Male Hemizygous FRANCE BMD 112 1532 ---401305611 Male Hemizygous FRANCE BMD 112 1883 ---310402231 Male Hemizygous FRANCE BMD 115 1926 ---809304dm101 Male Hemizygous - BMD 113 1973 ---405803411 Male Hemizygous FRANCE BMD 106 2345 ---71831DC931 Male Hemizygous FRANCE BMD 121 2528 ---407207011 Male Hemizygous FRANCE BMD 126 2514 ---713507AAJ781 Male Hemizygous FRANCE BMD 121 2515 ---713507ABC871 Male Hemizygous FRANCE Pending 121 2516 ---713507ABC921 Male Hemizygous FRANCE Pending 121 2621 ---3208105621 Male Hemizygous FRANCE BMD 115 2641 ---3208105621 Male Hemizygous FRANCE BMD 115 2631 ---100400041 Male Hemizygous FRANCE BMD 128 2723 ---406301801 Male Hemizygous FRANCE BMD 112 417 ---51608011 Male Hemizygous FRANCE BMD 1 483 ---51068111 Male Hemizygous FRANCE BMD 1 484 ---51068011 Male Hemizygous FRANCE BMD 1 485 ---51753011 Male Hemizygous FRANCE BMD 1 486 ---52974011 Male Hemizygous FRANCE BMD 1 487 ---53995011 Male Hemizygous FRANCE BMD 1 488 ---53995111 Male Hemizygous FRANCE BMD 1 624 ---53375011 Male Hemizygous FRANCE BMD 1 625 ---53614011 Male Hemizygous - BMD 1 626 ---54404011 Male Hemizygous - BMD 1 840 ---51866011 Male Hemizygous FRANCE BMD 1 841 ---51866111 Male Hemizygous FRANCE BMD 1 1358 ---57347011 Male Hemizygous FRANCE BMD 1 2796 ---51753042 Female Heterozygous FRANCE Symptomatic carrier 1 2812 ---51068211 Male Hemizygous FRANCE Asymptomatic 1 2952 ---51753042 Female Heterozygous FRANCE Symptomatic carrier 1 2968 ---51068211 Male Hemizygous FRANCE Asymptomatic 1 3195 ---59077011 Male Hemizygous FRANCE BMD 1 3211 ---56502011 Male Hemizygous FRANCE BMD 1 3366 ---59077111 Male Hemizygous FRANCE BMD 1 3459 ---59782011 Male Hemizygous FRANCE DCM 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 ---7344800451 Male Hemizygous FRANCE DMD 121 1998 ---4466761081 Male Hemizygous FRANCE DMD 117 2003 ---413462174151 Male Hemizygous FRANCE DMD 117 2069 ---308400471 Male Hemizygous FRANCE DMD 122 2093 ---90210CC11 Male Hemizygous FRANCE DMD 114 2111 ---9060989m1 Male Hemizygous FRANCE DMD 114 1469 ---500503421 Male Hemizygous FRANCE DMD 110 1601 ---424413891 Male Hemizygous FRANCE DMD 106 1971 ---405503251 Male Hemizygous FRANCE DMD 106 2180 ---9139582m1 Male Hemizygous FRANCE DMD 114 1842 ---305211311 Male Hemizygous FRANCE IMD 115 1854 ---306518781 Male Hemizygous FRANCE DMD 115 2427 ---403105001 Male Hemizygous FRANCE Pending 126 2527 ---406906851 Male Hemizygous FRANCE Pending 126 2509 ---76409GU321 Male Hemizygous FRANCE DMD 121 2511 ---77496ADB681 Male Hemizygous FRANCE DMD 121 2697 ---3227129742 Female Heterozygous FRANCE Symptomatic carrier 115 2728 ---407006741 Male Hemizygous FRANCE DMD 112 2734 ---408102761 Male Hemizygous FRANCE DMD 112 2739 ---408800601 Male Hemizygous FRANCE DMD 112 2744 ---409905231 Male Hemizygous FRANCE DMD 112 2747 ---409406041 Male Hemizygous FRANCE DMD 112 2765 ---452025332 Female Heterozygous FRANCE Symptomatic carrier 106 8 ---53588032 Female Heterozygous FRANCE Symptomatic carrier 1 11 ---50724011 Male Hemizygous FRANCE DMD 1 106 ---50892011 Male Hemizygous FRANCE DMD 1 107 ---51248011 Male Hemizygous FRANCE DMD 1 108 ---51457011 Male Hemizygous - DMD 1 109 ---51893011 Male Hemizygous FRANCE DMD 119 110 ---52375011 Male Hemizygous - DMD 1 111 ---53014011 Male Hemizygous - DMD 1 271 ---50169011 Male Hemizygous FRANCE DMD 1 304 ---50777011 Male Hemizygous - DMD 1 305 ---51247011 Male Hemizygous - DMD 1 306 ---52987011 Male Hemizygous - DMD 1 307 ---52987111 Male Hemizygous - DMD 1 308 ---53471011 Male Hemizygous FRANCE DMD 1 309 ---54952011 Male Hemizygous - DMD 1 310 ---55032011 Male Hemizygous FRANCE DMD 1 311 ---55161011 Male Hemizygous ALGERIA DMD 1 1659 ---401400951 Male Hemizygous FRANCE DMD 106 1660 ---401400961 Male Hemizygous FRANCE DMD 106 1691 ---71622100011 Male Hemizygous FRANCE DMD 116 937 ---50724111 Male Hemizygous FRANCE DMD 1 939 ---51248111 Male Hemizygous FRANCE DMD 1 941 ---51248042 Female Heterozygous FRANCE Symptomatic carrier 1 981 ---56852011 Male Hemizygous FRANCE DMD 1 1047 ---50169032 Female Heterozygous FRANCE Symptomatic carrier 1 1048 ---50169042 Female Heterozygous FRANCE Symptomatic carrier 1 1093 ---57179011 Male Hemizygous FRANCE DMD 1 1748 ---57359011 Male Hemizygous FRANCE DMD 1 3052 ---58099011 Male Hemizygous FRANCE DMD 1 3165 ---50307011 Male Hemizygous - DMD 1 3300 ---51321011 Male Hemizygous FRANCE DMD 1 3344 ---59148011 Male Hemizygous FRANCE DMD 1 3457 ---59641011 Male Hemizygous FRANCE DMD 1 3531 ---50724211 Male Hemizygous FRANCE Pending 1 3542 ---53028011 Male Hemizygous FRANCE DMD 1 3556 ---510027011 Male Hemizygous FRANCE DMD 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 ---904816841 Male Hemizygous FRANCE BMD 127 432 ---51796011 Male Hemizygous FRANCE BMD 1 433 ---54449011 Male Hemizygous FRANCE BMD 1 489 ---54140011 Male Hemizygous FRANCE BMD 1 3562 ---59968011 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 ---425881337211 Male Hemizygous FRANCE DMD 117 1855 ---306601631 Male Hemizygous FRANCE DMD 115 1865 ---307649961 Male Hemizygous FRANCE DMD 115 1906 ---802400061 Male Hemizygous - DMD 113 2184 ---91560EN21 Male Hemizygous FRANCE DMD 114 2208 ---91950DO21 Male Hemizygous FRANCE DMD 114 1840 ---305011271 Male Hemizygous FRANCE DMD 115 1844 ---305405301 Male Hemizygous FRANCE DMD 115 1850 ---3060214921 Male Hemizygous FRANCE DMD 115 2423 ---402804731 Male Hemizygous FRANCE Pending 126 2483 ---906226691 Male Hemizygous FRANCE DMD 127 2508 ---72842EA851 Male Hemizygous FRANCE DMD 121 2618 ---3203269832 Female Heterozygous FRANCE Symptomatic carrier 115 2721 ---406122021 Male Hemizygous FRANCE DMD 112 9 ---51723012 Female Heterozygous - Symptomatic carrier 1 10 ---52226012 Female Heterozygous - Symptomatic carrier 1 112 ---50961011 Male Hemizygous - DMD 1 113 ---53299011 Male Hemizygous - DMD 1 114 ---53542011 Male Hemizygous - DMD 1 313 ---51515011 Male Hemizygous - DMD 1 314 ---52992011 Male Hemizygous - DMD 1 1663 ---404302601 Male Hemizygous FRANCE DMD 106 1759 ---71892303561 Male Hemizygous FRANCE DMD 116 1763 ---7C135606191 Male Hemizygous FRANCE DMD 116 1792 ---71892302541 Male Hemizygous FRANCE DMD 116 1799 ---300210751 Male Hemizygous FRANCE DMD 115 627 ---51669011 Male Hemizygous FRANCE DMD 1 737 ---56232011 Male Hemizygous - DMD 1 1066 ---55879011 Male Hemizygous - DMD 1 1266 ---54871011 Male Hemizygous - DMD 1 3214 ---52741011 Male Hemizygous FRANCE DMD 1 3498 ---51842011 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 ---50880011 Male Hemizygous FRANCE IMD 1 628 ---54171011 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 ---305700291 Male Hemizygous FRANCE DMD 122 2588 ---9037975m2 Female Heterozygous FRANCE Symptomatic carrier 114 2460 ---905302261 Male Hemizygous FRANCE BMD 127 43 ---54603011 Male Hemizygous - DMD 1 315 ---54103011 Male Hemizygous - DMD 1 1679 ---404402641 Male Hemizygous FRANCE DMD 112 1765 ---72045803201 Male Hemizygous FRANCE DMD 119 631 ---51649011 Male Hemizygous - DMD 1 3189 ---58666011 Male Hemizygous - 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 ---9104857m1 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 ---420111681 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 ---401507341 Male Hemizygous FRANCE BMD 112 629 ---53541011 Male Hemizygous - BMD 1 3325 ---57025011 Male Hemizygous FRANCE BMD 1
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 ---59015011 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 ---55272011 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 ---307106981 Male Hemizygous FRANCE DMD 115 1861 ---307106991 Male Hemizygous FRANCE DMD 115 1949 ---407605211 Male Hemizygous FRANCE DMD 106 1953 ---401901631 Male Hemizygous FRANCE DMD 106 1955 ---401300941 Male Hemizygous FRANCE DMD 106 1961 ---400900731 Male Hemizygous FRANCE DMD 106 2187 ---915911MA1 Male Hemizygous LIBYA DMD 114 1831 ---304103941 Male Hemizygous FRANCE IMD 115 2428 ---403205221 Male Hemizygous FRANCE Pending 126 2481 ---908905221 Male Hemizygous FRANCE DMD 127 2504 ---716540DB61 Male Hemizygous FRANCE DMD 121 2705 ---507105761 Male Hemizygous FRANCE DMD 110 2774 ---72152100461 Male Hemizygous FRANCE DMD 121 1 ---51462012 Female Heterozygous - Symptomatic carrier 1 2 ---51462112 Female Heterozygous - Symptomatic carrier 1 115 ---51304011 Male Hemizygous - DMD 1 116 ---54412011 Male Hemizygous FRANCE DMD 1 317 ---51044011 Male Hemizygous FRANCE DMD 1 318 ---53558011 Male Hemizygous FRANCE DMD 1 319 ---53902011 Male Hemizygous - DMD 1 2817 ---57479011 Male Hemizygous FRANCE DMD 1 2973 ---57479011 Male Hemizygous FRANCE DMD 1 2999 ---50637011 Male Hemizygous - DMD 1 3051 ---50198011 Male Hemizygous FRANCE DMD 1 3084 ---58329011 Male Hemizygous FRANCE DMD 1 3176 ---56898011 Male Hemizygous - DMD 1 3239 ---59318011 Male Hemizygous FRANCE DMD 1 3277 ---55236011 Male Hemizygous FRANCE DMD 1 3368 ---59241011 Male Hemizygous FRANCE DMD 1 2441 ---51211011 Male Hemizygous FRANCE DMD 1 3430 ---58735011 Male Hemizygous FRANCE DMD 1 3520 ---58881011 Male Hemizygous FRANCE 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 ---53330011 Male Hemizygous FRANCE BMD 1 2847 ---59829011 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 ---423502701 Male Hemizygous FRANCE DMD 117 2054 ---305500281 Male Hemizygous FRANCE DMD 122 2085 ---9016236m1 Male Hemizygous FRANCE DMD 114 2096 ---90290BC61 Male Hemizygous FRANCE DMD 114 1821 ---303003001 Male Hemizygous FRANCE DMD 115 1974 ---410406601 Male Hemizygous FRANCE DMD 106 1852 ---306208621 Male Hemizygous FRANCE Pending 115 2475 ---903312171 Male Hemizygous FRANCE DMD 127 2485 ---908016771 Male Hemizygous FRANCE DMD 127 2757 ---411104312 Female Heterozygous FRANCE Symptomatic carrier 112 320 ---51423011 Male Hemizygous - DMD 1 1614 ---424814241 Male Hemizygous FRANCE DMD 106 1646 ---409406381 Male Hemizygous FRANCE IMD 106 2583 ---71545900051 Male Hemizygous FRANCE DMD 116 1743 ---72180303721 Male Hemizygous FRANCE DMD 116 2582 ---71545900061 Male Hemizygous FRANCE DMD 116 1804 ---301000951 Male Hemizygous FRANCE DMD 115 736 ---56214011 Male Hemizygous - DMD 1 1393 ---51195011 Male Hemizygous - DMD 1 3002 ---55943011 Male Hemizygous FRANCE BMD 1 3045 ---57663011 Male Hemizygous - DMD 1 3226 ---20837011 Male Hemizygous FRANCE DMD 1 3367 ---59117011 Male Hemizygous FRANCE DMD 1 3475 ---59822011 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 ---504601511 Male Hemizygous FRANCE DMD 110 1882 ---310302361 Male Hemizygous FRANCE Pending 115 2314 ---403909522 Female Heterozygous FRANCE Symptomatic carrier 112 2469 ---905126721 Male Hemizygous FRANCE DMD 127 1809 ---301501131 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 ---402903781 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 ---50923011 Male Hemizygous FRANCE IMD 2 3039 ---50923032 Female Heterozygous FRANCE Symptomatic carrier 2 3288 ---50923042 Female Heterozygous FRANCE Symptomatic carrier 1 3289 ---50923052 Female Heterozygous FRANCE Symptomatic carrier 1 3290 ---50923111 Male Hemizygous FRANCE Pending 1 3291 ---50923062 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 ---71163400561 Male Hemizygous FRANCE DMD 121 2067 ---308300451 Male Hemizygous FRANCE DMD 122 1499 ---504201061 Male Hemizygous FRANCE DMD 110 1541 ---402321551 Male Hemizygous FRANCE DMD 112 1908 ---803400081 Male Hemizygous - DMD 113 2195 ---9170146MA1 Male Hemizygous LEIBANON Pending 114 2209 ---91970GD11 Male Hemizygous FRANCE DMD 114 2225 ---92200DQ31 Male Hemizygous FRANCE DMD 114 2448 ---405406361 Male Hemizygous FRANCE Pending 126 2477 ---903422171 Male Hemizygous FRANCE DMD 127 2666 ---506706381 Male Hemizygous FRANCE DMD 110 2707 ---811307dm101 Male Hemizygous FRANCE DMD 113 119 ---51134011 Male Hemizygous - DMD 1 120 ---52251011 Male Hemizygous FRANCE DMD 1 326 ---54470012 Female Heterozygous - Symptomatic carrier 1 2920 ---50905011 Male Hemizygous FRANCE DMD 1 2922 ---50905111 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 ---90660CW61 Male Hemizygous FRANCE DMD 114 2233 ---9230764m1 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 ---303900181 Male Hemizygous FRANCE DMD 122 2090 ---902000M61 Male Hemizygous FRANCE DMD 114 2091 ---902000M81 Male Hemizygous FRANCE DMD 114 2092 ---902000M91 Male Hemizygous FRANCE DMD 114 1492 ---503401351 Male Hemizygous FRANCE DMD 110 1952 ---402001641 Male Hemizygous FRANCE DMD 106 2177 ---9134FP101 Male Hemizygous FRANCE DMD 114 2518 ---715100ABS331 Male Hemizygous EGYPT DMD 121 117 ---53858111 Male Hemizygous - DMD 1 118 ---53858011 Male Hemizygous - DMD 1 121 ---50801011 Male Hemizygous - DMD 1 328 ---53418011 Male Hemizygous - DMD 1 329 ---53488011 Male Hemizygous - DMD 1 1815 ---302108411 Male Hemizygous FRANCE DMD 115 707 ---56219011 Male Hemizygous - DMD 1 862 ---56434011 Male Hemizygous - DMD 1 1064 ---50671011 Male Hemizygous - DMD 1 3280 ---59436011 Male Hemizygous FRANCE DMD 1 3433 ---55789011 Male 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 ---403801961 Male Hemizygous FRANCE DMD 112 2820 ---57503011 Male Hemizygous - DMD 1 2976 ---57503011 Male Hemizygous - DMD 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 ---51799011 Male Hemizygous FRANCE DMD 1
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 ---58842011 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 ---304200211 Male Hemizygous FRANCE DMD 122 1474 ---501502731 Male Hemizygous FRANCE DMD 110 1493 ---503503171 Male Hemizygous FRANCE Pending 110 1586 ---420311771 Male Hemizygous FRANCE DMD 106 1859 ---307003581 Male Hemizygous FRANCE DMD 115 1864 ---307507251 Male Hemizygous FRANCE DMD 115 1925 ---808603dm361 Male Hemizygous - DMD 113 1950 ---407104591 Male Hemizygous FRANCE DMD 106 1951 ---407104631 Male Hemizygous FRANCE DMD 106 2224 ---92190BH11 Male Hemizygous FRANCE DMD 114 2232 ---92280EC11 Male Hemizygous FRANCE DMD 114 1843 ---305305111 Male Hemizygous FRANCE IMD 115 2590 ---9101754m1 Male Hemizygous LEIBANON DMD 114 2388 ---433317751 Male Hemizygous ITALIA DMD 106 2532 ---408908351 Male Hemizygous FRANCE Pending 126 2521 ---716166ACQ581 Male Hemizygous EGYPT DMD 121 41 ---51099011 Male Hemizygous - DMD 1 122 ---51599011 Male Hemizygous - DMD 1 123 ---51655011 Male Hemizygous - DMD 1 145 ---54817011 Male Hemizygous - DMD 1 330 ---50387011 Male Hemizygous - DMD 1 331 ---50390011 Male Hemizygous - DMD 1 332 ---50788011 Male Hemizygous - DMD 1 333 ---51127011 Male Hemizygous - DMD 119 334 ---51487011 Male Hemizygous - DMD 1 335 ---51512011 Male Hemizygous - DMD 1 336 ---51513011 Male Hemizygous - DMD 1 338 ---53187011 Male Hemizygous FRANCE DMD 1 339 ---53543011 Male Hemizygous - DMD 1 1619 ---433617831 Male Hemizygous FRANCE DMD 106 1644 ---408806001 Male Hemizygous FRANCE DMD 106 1696 ---7C24207061 Male Hemizygous FRANCE DMD 116 1757 ---72147904561 Male Hemizygous FRANCE DMD 116 1783 ---71742203491 Male Hemizygous FRANCE DMD 119 1785 ---72180503731 Male Hemizygous FRANCE DMD 119 716 ---50864011 Male Hemizygous - DMD 1 733 ---55986011 Male Hemizygous FRANCE DMD 1 1207 ---50387111 Male Hemizygous - DMD 1 1209 ---50387211 Male Hemizygous - DMD 1 1262 ---53480011 Male Hemizygous - DMD 1 1268 ---55730011 Male Hemizygous - DMD 1 2810 ---51127032 Female Heterozygous - Symptomatic carrier 1 2966 ---51127032 Female Heterozygous - Symptomatic carrier 1 3127 ---53480111 Male Hemizygous - DMD 1 3318 ---58533011 Male Hemizygous ITALIA DMD 1 3331 ---59348032 Female Heterozygous FRANCE Symptomatic carrier 1 3362 ---50391011 Male Hemizygous FRANCE DMD 1 3541 ---59916011 Male Hemizygous ALGERIA DMD 1 3546 ---59783011 Male Hemizygous FRANCE Pending 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 ---55565111 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 ---9005512m1 Male Hemizygous FRANCE DMD 114 2081 ---9010873m1 Male Hemizygous FRANCE DMD 114 2554 ---7512200921 Male Hemizygous FRANCE DMD 121 30 ---50146011 Male Hemizygous FRANCE DMD 1 341 ---50810011 Male Hemizygous FRANCE DMD 1 342 ---51227012 Female Heterozygous - Symptomatic carrier 5 3543 ---59907011 Male Hemizygous FRANCE DMD 1 3564 ---59907032 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 ---90810DK21 Male Hemizygous FRANCE DMD 114 2216 ---9206822m1 Male Hemizygous FRANCE DMD 114 2614 ---320096061 Male Hemizygous LEIBANON DMD 115 3565 ---510120011 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 ---412807901 Male Hemizygous LEIBANON DMD 106 124 ---50759011 Male Hemizygous - DMD 119 343 ---50346111 Male Hemizygous - DMD 1 344 ---50346011 Male Hemizygous - DMD 1 346 ---50150311 Male Hemizygous - DMD 1 1648 ---406504041 Male Hemizygous FRANCE DMD 106 1649 ---406504051 Male Hemizygous FRANCE DMD 106 1818 ---302708701 Male Hemizygous FRANCE DMD 115 2788 ---57452011 Male Hemizygous - DMD 1 1113 ---50150211 Male Hemizygous - DMD 1 1114 ---50150411 Male Hemizygous - DMD 1 1115 ---50150511 Male Hemizygous - DMD 1 1116 ---50150011 Male Hemizygous - DMD 1 1117 ---50150111 Male Hemizygous - DMD 1 1178 ---50759111 Male Hemizygous - DMD 1 2944 ---57452011 Male Hemizygous - DMD 1 3011 ---52812011 Male Hemizygous FRANCE IMD 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 ---51859011 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 ---51480011 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 ---414307186601 Male Hemizygous FRANCE DMD 117 2102 ---9045351m1 Male Hemizygous FRANCE DMD 114 1547 ---403017711 Male Hemizygous FRANCE DMD 112 2126 ---906408911 Male Hemizygous FRANCE DMD 114 2189 ---916300CM1 Male Hemizygous FRANCE DMD 114 1839 ---304906161 Male Hemizygous FRANCE DMD 115 2321 ---405413781 Male Hemizygous FRANCE DMD 112 2433 ---403705471 Male Hemizygous FRANCE Pending 126 2463 ---904715581 Male Hemizygous FRANCE DMD 127 2500 ---71945DI781 Male Hemizygous FRANCE DMD 121 2679 ---453726331 Male Hemizygous FRANCE DMD 106 24 ---55036011 Male Hemizygous FRANCE DMD 1 125 ---53899011 Male Hemizygous FRANCE DMD 1 348 ---50434011 Male Hemizygous FRANCE DMD 1 349 ---50731011 Male Hemizygous - DMD 1 350 ---50755011 Male Hemizygous FRANCE DMD 1 351 ---51094011 Male Hemizygous FRANCE DMD 1 352 ---51204011 Male Hemizygous - DMD 1 353 ---51722011 Male Hemizygous - DMD 1 1665 ---407405041 Male Hemizygous FRANCE DMD 106 1739 ---72530904771 Male Hemizygous FRANCE DMD 116 735 ---56072032 Female Heterozygous FRANCE Symptomatic carrier 1 755 ---56122011 Male Hemizygous FRANCE DMD 1 1036 ---55490011 Male Hemizygous - DMD 1 1386 ---56508011 Male Hemizygous - DMD 1 3208 ---50616011 Male Hemizygous - DMD 1 3276 ---53899042 Female Heterozygous FRANCE Symptomatic carrier 1 3363 ---59437011 Male Hemizygous FRANCE DMD 1 2905 ---510252011 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 ---307000341 Male Hemizygous FRANCE DMD 122 2543 ---445422711 Male Hemizygous FRANCE DMD 106 2764 ---452725741 Male Hemizygous FRANCE DMD 106 355 ---50402011 Male Hemizygous - DMD 1 3177 ---57011011 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 ---7433303891 Male Hemizygous FRANCE BMD 116
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 ---54466011 Male Hemizygous - DMD 1
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 ---71546300081 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 ---55458011 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 ---431917331 Male Hemizygous FRANCE DMD 106 1482 ---429416351 Male Hemizygous FRANCE DMD 106 1561 ---426014931 Male Hemizygous FRANCE DMD 100 1568 ---417010301 Male Hemizygous French DMD 100 2496 ---440822071 Male Hemizygous FRANCE DMD 106 2560 ---71651600241 Male Hemizygous FRANCE DMD 121 2682 ---3214122021 Male Hemizygous FRANCE DMD 115 126 ---52397011 Male Hemizygous - DMD 1 146 ---54416011 Male Hemizygous - DMD 1 3081 ---57934011 Male Hemizygous - DMD 1 3574 ---9993011 Male Hemizygous FRANCE Pending 1
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 ---803300071 Male Hemizygous - DMD 113 1929 ---421912361 Male Hemizygous FRANCE DMD 106 356 ---50571011 Male Hemizygous - DMD 1 357 ---50869011 Male Hemizygous - DMD 119 358 ---50869111 Male Hemizygous - DMD 1 2814 ---56997011 Male Hemizygous - DMD 1 2970 ---56997011 Male Hemizygous - DMD 1 3420 ---59432011 Male Hemizygous FRANCE DMD 1
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 ---304000191 Male Hemizygous FRANCE DMD 122 2135 ---9082087m1 Male Hemizygous FRANCE DMD 114 2223 ---921519MA1 Male Hemizygous FRANCE DMD 114 2318 ---405006151 Male Hemizygous FRANCE DMD 112 2689 ---3229131581 Male Hemizygous FRANCE DMD 115 2770 ---452925791 Male Hemizygous FRANCE DMD 106 12 ---52394011 Male Hemizygous - DMD 1 1690 ---7678200831 Male Hemizygous FRANCE DMD 116 2819 ---57501011 Male Hemizygous - DMD 1 2823 ---57513011 Male Hemizygous - DMD 1 2975 ---57501011 Male Hemizygous - DMD 1 2979 ---57513011 Male Hemizygous - DMD 1 3056 ---55855032 Female Heterozygous FRANCE Symptomatic carrier 1 3365 ---50974011 Male Hemizygous FRANCE DMD 1 3533 ---56910011 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 ---50546011 Male Hemizygous - DMD 1 359 ---50687011 Male Hemizygous - DMD 1
p.Val2677StopfsX4	c.8028_11055del	54-55	2676	CRD-repeat #21		Large rearrangement Deletion from exon 55 to 79	Fr.	Stop at 2680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3313 ---58788011 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 ---439720061 Male Hemizygous FRANCE DMD 106 15 ---54809011 Male Hemizygous FRANCE DMD 1 128 ---51464011 Male Hemizygous FRANCE DMD 1 129 ---51620011 Male Hemizygous - DMD 1 360 ---53284011 Male Hemizygous - DMD 1 1795 ---71736602251 Male Hemizygous FRANCE DMD 119 1059 ---57058011 Male Hemizygous - DMD 1 2434 ---51464111 Male Hemizygous FRANCE 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 ---52989011 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 ---72045703221 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 ---71744005011 Male Hemizygous FRANCE IMD 116 1791 ---71744002141 Male Hemizygous FRANCE Pending 116 3326 ---57044032 Female Heterozygous SPAIN Symptomatic carrier 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 ---57021011 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 ---56083011 Male Hemizygous FRANCE DMD 1 3231 ---56083111 Male Hemizygous FRANCE DMD 1
p.Ala2980_Met3685del	c.8938_11055del	60	2980	CRD-repeat #24		Large rearrangement Deletion from exon 60 to 79	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2634 ---100700071 Male Hemizygous FRANCE DMD 128
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 ---52335011 Male Hemizygous - 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 ---72140403581 Male Hemizygous FRANCE DMD 116 3538 ---50102011 Male Hemizygous FRANCE DMD 1 3539 ---50102111 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 ---3214122021 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 ---417310461 Male Hemizygous FRANCE DMD 100 2234 ---9232143MA1 Male Hemizygous LEIBANON DMD 114 2389 ---415509481 Male Hemizygous FRANCE DMD 100 363 ---51953011 Male Hemizygous - DMD 1 3577 ---52904011 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 ---57085011 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 ---428115701 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 ---54298011 Male Hemizygous - DMD 1 1241 ---54298111 Male Hemizygous - DMD 1
p.	c.9225_11055del	62-63	3075	CRD-hinge region #4		Large rearrangement Deletion from exon 63 to 79	Fr.	Stop at 3099	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1927 ---434418311 Male Hemizygous FRANCE DMD 106
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 ---50639011 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 ---804896dm181 Male Hemizygous - DMD 113
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 ---411813011 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 ---50140011 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 ---91930EP21 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 ---59731011 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 ---7892407951 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 ---52205011 Male Hemizygous - BMD 1