The UMD-DMD France mutations database
Large duplications (334 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.-648_0dup	1	1	Dp427m unique N-Ter		Large rearrangement Duplication from 5' region to exon 1	Fr.	Stop at 228	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 366 ---50642011 Male Hemizygous - DMD 1
p.Asn444LysfsX2	c.32_1332dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 11	Fr.	Stop at 445	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 ---50331011 Male Hemizygous - DMD 1
p.Val495MetfsX15	c.32_1483dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 12	Fr.	Stop at 509	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 441 ---50806011 Male Hemizygous - BMD 1 442 ---50806111 Male Hemizygous - BMD 1
p.Val535MetfsX15	c.32_1603dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 13	Fr.	Stop at 549	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 ---50597011 Male Hemizygous - DMD 1
p.Ile665MetfsX15	c.32_1993dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 16	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 367 ---53254011 Male Hemizygous - DMD 1
p.Ala765MetfsX15	c.32_2293dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 18	Fr.	Stop at 779	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 ---50279011 Male Hemizygous - DMD 1
p.Val89MetfsX15	c.32_265dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 4	Fr.	Stop at 103	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1621 ---410113631 Male Hemizygous FRANCE DMD 106 1030 ---53978011 Male Hemizygous - DMD 1 1862 ---50375011 Male Hemizygous FRANCE IMD 1 3125 ---50375111 Male Hemizygous FRANCE IMD 1 3126 ---50375042 Female Heterozygous FRANCE Symptomatic carrier 1
p.Ala1616MetfsX15	c.32_4846dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 34		Stop at 1630	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3273 ---58902011 Male Hemizygous INDIA DMD 1
p.His1975MetfsX15	c.32_5923dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 41	Fr.	Stop at 1989	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 369 ---52514011 Male Hemizygous - DMD 1
p.Glu2147MetfsX15	c.32_6439dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 44	Fr.	Stop at 2161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 370 ---52450011 Male Hemizygous - DMD 1
p.Tyr11delinsTyrMet	c.32_650dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 7	Fr.	In frame ins	15
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2339 ---404722991 Male Hemizygous FRANCE BMD 112 2619 ---3204271181 Male Hemizygous FRANCE BMD 115 2620 ---3204271171 Male Hemizygous FRANCE BMD 115 2691 ---3235144041 Male Hemizygous FRANCE Pending 115 1668 ---431017031 Male Hemizygous FRANCE BMD 106 1786 ---7921403281 Male Hemizygous FRANCE BMD 116 403 ---51900011 Male Hemizygous - BMD 1 404 ---51900111 Male Hemizygous - BMD 1 415 ---54272111 Male Hemizygous - BMD 1 416 ---54272011 Male Hemizygous - BMD 1 765 ---56344011 Male Hemizygous FRANCE BMD 1 3175 ---56071011 Male Hemizygous FRANCE DCM 1 3258 ---50353011 Male Hemizygous FRANCE BMD 1 3259 ---50353111 Male Hemizygous FRANCE BMD 1 3545 ---51646011 Male Hemizygous FRANCE BMD 1
p.Phe32MetfsX15	c.32_94dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 2	Fr.	Stop at 46	32
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1476 ---428615971 Male Hemizygous FRANCE DMD 106 2214 ---9202403m1 Male Hemizygous FRANCE DMD 114 2612 ---436118731 Male Hemizygous FRANCE DMD 106 2672 ---72178604231 Male Hemizygous FRANCE DMD 116 2692 ---3237151351 Male Hemizygous FRANCE DMD 115 2711 ---71209400561 Male Hemizygous FRANCE DMD 116 2732 ---407709081 Male Hemizygous FRANCE DMD 112 31 ---52821011 Male Hemizygous - DMD 1 2381 ---430016491 Male Hemizygous FRANCE DMD 106 1657 ---401016891 Male Hemizygous FRANCE DMD 106 1658 ---401000821 Male Hemizygous FRANCE DMD 106 2576 ---71568502231 Male Hemizygous FRANCE DMD 116 510 ---50826011 Male Hemizygous - DMD 1 2833 ---52821111 Male Hemizygous - DMD 1 2989 ---52821111 Male Hemizygous - DMD 1 3041 ---58080011 Male Hemizygous - DMD 1 3044 ---57728011 Male Hemizygous - DMD 1 3095 ---51361011 Male Hemizygous - DMD 1 3097 ---58140011 Male Hemizygous - DMD 1 3098 ---58139011 Male Hemizygous - DMD 1 3099 ---58003011 Male Hemizygous - DMD 1 3122 ---50207011 Male Hemizygous - DMD 1 3178 ---57405011 Male Hemizygous FRANCE DMD 1 3183 ---58561011 Male Hemizygous - Pending 1 3191 ---58894011 Male Hemizygous - Pending 1 3221 ---55670011 Male Hemizygous - DMD 1 3244 ---56722011 Male Hemizygous FRANCE DMD 1 3437 ---50695011 Male Hemizygous FRANCE DMD 1 3468 ---52898011 Male Hemizygous FRANCE DMD 1 3470 ---52258011 Male Hemizygous FRANCE DMD 1 3527 ---52172011 Male Hemizygous FRANCE DMD 1 2936 ---510214011 Male Hemizygous RUSSIA IMD 1
p.His321MetfsX15	c.32_961dup	1-2	11	Dp427m unique N-Ter		Large rearrangement Duplication from exon 2 to 9		Stop at 335	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2580 ---907010361 Male Hemizygous FRANCE DMD 127
p.His446GlyfsX19	c.94_1332dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 11	Fr.	Stop at 464	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1628 ---436318701 Male Hemizygous FRANCE DMD 106
p.Lys31_Phe32ins463AA	c.94_1483dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 12	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2073 ---900207MA1 Male Hemizygous FRANCE Pending 114
p.Lys31_Phe32ins31AA	c.94_187dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 3	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 439 ---54660011 Male Hemizygous - BMD 1 3292 ---58089011 Male Hemizygous FRANCE BMD 1
p.Lys31_Phe32ins633AA	c.94_1993dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 16	InF	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2849 ---56206011 Male Hemizygous FRANCE BMD 1
p.Arg723SerfsX21	c.94_2169dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 17	Fr.	Stop at 743	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 4 ---54068012 Female Heterozygous - Symptomatic carrier 8
p.Lys31_Phe32ins762AA	c.94_2380dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 19	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 375 ---51497011 Male Hemizygous - BMD 1
p.Lys31_Phe32ins57AA	c.94_265dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 4	Fr.	In frame ins	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2204 ---91900CY21 Male Hemizygous FRANCE DMD 114 371 ---51919011 Male Hemizygous - DMD 1 633 ---52267011 Male Hemizygous FRANCE BMD 1 634 ---53079011 Male Hemizygous - BMD 1 864 ---56413011 Male Hemizygous FRANCE Pending 1 1372 ---57091011 Male Hemizygous - BMD 1
p.Phe936TrpfsX6	c.94_2804dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 21	Fr.	Stop at 941	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 376 ---50508011 Male Hemizygous - DMD 1
p.Lys31_Phe32ins88AA	c.94_358dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 5	Fr.	In frame ins	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2353 ---437018891 Male Hemizygous FRANCE Pending 106 2743 ---409701951 Male Hemizygous FRANCE Pending 112 1678 ---404315851 Male Hemizygous FRANCE DMD 112 440 ---50632011 Male Hemizygous FRANCE BMD 1 3049 ---51079011 Male Hemizygous - BMD 1 2882 ---50632111 Male Hemizygous FRANCE BMD 1 2883 ---50632211 Male Hemizygous FRANCE BMD 1
p.Lys31_Phe32ins1170AA	c.94_3604dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 26	InF	In frame ins	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3347 ---59401011 Male Hemizygous FRANCE DMD 1 3526 ---59401111 Male Hemizygous FRANCE DMD 1 3584 ---59401211 Male Hemizygous FRANCE DMD 1
p.Arg177SerfsX21	c.94_531dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 6	Fr.	Stop at 197	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 ---52957011 Male Hemizygous - DMD 1 738 ---56250011 Male Hemizygous - DMD 1 1043 ---56228011 Male Hemizygous - DMD 1
p.Lys31_Phe32ins2008AA	c.94_6118dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 42	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2451 ---424914341 Male Hemizygous FRANCE BMD 106 1632 ---430317041 Male Hemizygous FRANCE DMD 106
p.Asp217ValfsX7	c.94_650dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 7	Fr.	Stop at 223	25
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2360 ---419411401 Male Hemizygous FRANCE DMD 106 2544 ---506506081 Male Hemizygous FRANCE DMD 110 2709 ---78223808071 Male Hemizygous FRANCE DMD 116 2727 ---406901581 Male Hemizygous FRANCE DMD 112 13 ---54438011 Male Hemizygous - DMD 1 134 ---50691011 Male Hemizygous - DMD 6 2786 ---50691212 Female Heterozygous - Symptomatic carrier 6 2787 ---50691112 Female Heterozygous - Symptomatic carrier 6 1021 ---50483111 Male Hemizygous FRANCE DMD 1 1656 ---421713501 Male Hemizygous FRANCE DMD 106 2326 ---506102461 Male Hemizygous FRANCE DMD 110 1720 ---72243004171 Male Hemizygous FRANCE DMD 119 372 ---50414011 Male Hemizygous - DMD 1 373 ---50483011 Male Hemizygous FRANCE DMD 1 374 ---54174011 Male Hemizygous FRANCE DMD 1 1022 ---50483211 Male Hemizygous FRANCE DMD 1 443 ---52532011 Male Hemizygous - BMD 1 998 ---50414111 Male Hemizygous FRANCE DMD 119 1023 ---50483311 Male Hemizygous FRANCE DMD 1 2942 ---50691212 Female Heterozygous - Symptomatic carrier 6 2943 ---50691112 Female Heterozygous - Symptomatic carrier 6 3064 ---50103011 Male Hemizygous - IMD 1 3514 ---59642011 Male Hemizygous FRANCE DMD 1 3523 ---58112011 Male Hemizygous FRANCE DMD 119 3524 ---58112042 Female Heterozygous FRANCE Symptomatic carrier 1
p.Lys31_Phe32ins289AA	c.94_961dup	3	32	Actin binding domain		Large rearrangement Duplication from exon 3 to 9	InF	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1687 ---73050305951 Male Hemizygous FRANCE Pending 116 3274 ---54343011 Male Hemizygous FRANCE Pending 1
p.Leu62_Pro63ins26AA	c.187_265dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 4	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1361 ---57393011 Male Hemizygous - BMD 1
p.Asp217AlafsX26	c.187_650dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 7	Fr.	Stop at 242	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 377 ---52885011 Male Hemizygous - DMD 1
p.Leu62_Pro63ins215AA	c.187_832dup	4	63	Actin binding domain		Large rearrangement Duplication from exon 4 to 8	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1259 ---53390011 Male Hemizygous - BMD 1 1261 ---53390112 Female Heterozygous - Symptomatic carrier 1
p.Asn88_Val89ins295AA	c.265_1150dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 10	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2317 ---404605741 Male Hemizygous FRANCE DMD 112
p.Asn444LysfsX4	c.265_1332dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 11		Stop at 447	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2587 ---9036997m2 Female Heterozygous FRANCE Symptomatic carrier 114
p.Asn88_Val89ins406AA	c.265_1483dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 12	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2106 ---9050786m1 Male Hemizygous FRANCE BMD 114
p.Asp725IlefsX2	c.265_2169dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 17	Fr.	Stop at 726	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2056 ---305900301 Male Hemizygous FRANCE BMD 122 135 ---51322011 Male Hemizygous - DMD 1
p.Ile935SerfsX2	c.265_2804dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 21	Fr.	Stop at 936	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3530 ---53428011 Male Hemizygous FRANCE DMD 1
p.Asn88_Val89ins31AA	c.265_358dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 5	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2322 ---405521201 Male Hemizygous FRANCE BMD 112 2323 ---405513021 Male Hemizygous FRANCE BMD 112
p.Asp217GlyfsX2	c.265_650dup	5	89	Actin binding domain		Large rearrangement Duplication from exon 5 to 7	Fr.	Stop at 218	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2123 ---505604901 Male Hemizygous FRANCE DMD 110 2152 ---911089MA1 Male Hemizygous FRANCE DMD 114 2750 ---410508291 Male Hemizygous FRANCE DMD 112 378 ---54323011 Male Hemizygous - DMD 1 3327 ---57711042 Female Heterozygous SPAIN Symptomatic carrier 1 3328 ---57711032 Female Heterozygous SPAIN Symptomatic carrier 1
p.Asp217GlyfsX18	c.358_650dup	6	120	Actin binding domain		Large rearrangement Duplication from exon 6 to 7	Fr.	Stop at 234	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2749 ---410403661 Male Hemizygous FRANCE DMD 112
p.Val605AlafsX5	c.531_1813dup	6-7	177	Actin binding domain		Large rearrangement Duplication from exon 7 to 15	Fr.	Stop at 609	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1390 ---50474011 Male Hemizygous - DMD 1 1391 ---50474111 Male Hemizygous - DMD 1
p.Asp217GlyfsX31	c.531_650dup	6-7	177	Actin binding domain		Large rearrangement Duplication from exon 7 to 7	Fr.	Stop at 247	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3055 ---57582011 Male Hemizygous - BMD 1 3579 ---510113011 Male Hemizygous FRANCE DMD 1
p.Asn444LysfsX3	c.650_1332dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 11	Fr.	Stop at 446	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1572 ---417714261 Male Hemizygous FRANCE DMD 100 381 ---50521011 Male Hemizygous - DMD 1 382 ---50770011 Male Hemizygous - DMD 1 1026 ---50521111 Male Hemizygous - DMD 1 1189 ---50770111 Male Hemizygous - DMD 1 3567 ---510050011 Male Hemizygous ARGENTINA DMD 1
p.Val495MetfsX13	c.650_1483dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 12	Fr.	Stop at 507	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1581 ---419514161 Male Hemizygous FRANCE DMD 100 185 ---50104011 Male Hemizygous - DMD 1 1623 ---415712081 Male Hemizygous FRANCE DMD 106 3192 ---58915011 Male Hemizygous - DMD 1
p.Val535MetfsX13	c.650_1603dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 13	Fr.	Stop at 547	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2040 ---303100131 Male Hemizygous FRANCE IMD 122 2041 ---303100141 Male Hemizygous FRANCE DMD 122 1626 ---400515061 Male Hemizygous FRANCE DMD 106
p.Val605MetfsX13	c.650_1813dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 15	Fr.	Stop at 617	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 384 ---52285011 Male Hemizygous - DMD 1
p.Ile665MetfsX13	c.650_1993dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 16	Fr.	Stop at 677	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 136 ---52246011 Male Hemizygous - DMD 1 385 ---52603011 Male Hemizygous - DMD 1
p.Leu724CysfsX2	c.650_2169dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 17	Fr.	Stop at 725	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 386 ---53705011 Male Hemizygous - DMD 1 387 ---53705111 Male Hemizygous - DMD 1
p.Ala765MetfsX13	c.650_2293dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 18	Fr.	Stop at 777	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 40 ---51298011 Male Hemizygous - DMD 1
p.Asn1055MetfsX13	c.650_3163dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 23	Fr.	Stop at 1067	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2086 ---9017339m1 Male Hemizygous FRANCE DMD 114
p.His321MetfsX13	c.650_961dup	7-8	217	Actin binding domain		Large rearrangement Duplication from exon 8 to 9	Fr.	Stop at 333	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2026 ---441520901 Male Hemizygous FRANCE DMD 106 2031 ---300800041 Male Hemizygous FRANCE DMD 122 2032 ---300800051 Male Hemizygous FRANCE DMD 122 2072 ---900111MA1 Male Hemizygous FRANCE DMD 114 2188 ---9162155MA1 Male Hemizygous FRANCE IMD 114 1779 ---71096601061 Male Hemizygous FRANCE DMD 119 380 ---50937011 Male Hemizygous FRANCE DMD 1 3394 ---50432011 Male Hemizygous FRANCE DMD 1 3434 ---55341011 Male Hemizygous FRANCE DMD 1
p.Leu445IlefsX14	c.961_1332dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 11	Fr.	Stop at 458	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2478 ---909404501 Male Hemizygous FRANCE DMD 127 137 ---52366011 Male Hemizygous - DMD 1 3534 ---50253011 Male Hemizygous FRANCE DMD 1 3559 ---50238011 Male Hemizygous FRANCE DMD 1
p.Arg723SerfsX15	c.961_2169dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 17	Fr.	Stop at 737	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 138 ---50646011 Male Hemizygous - DMD 1
p.Gln320_His321ins473AA	c.961_2380dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 19	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 ---52982011 Male Hemizygous - DMD 1
p.Ile935ThrfsX6	c.961_2804dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 21	Fr.	Stop at 940	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2027 ---440121091 Male Hemizygous FRANCE DMD 106 3426 ---58396011 Male Hemizygous FRANCE DMD 1
p.Gln320_His321ins1455AA	c.961_5326dup	10	321	CRD-hinge region #1		Large rearrangement Duplication from exon 10 to 37	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 635 ---54826011 Male Hemizygous - BMD 1
p.Asn444LysfsX4	c.1150_1332dup	11	384	CRD-repeat #1		Large rearrangement Duplication from exon 11 to 11	Fr.	Stop at 447	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3040 ---57532011 Male Hemizygous - DMD 1
p.Val535PhefsX3	c.1332_1603dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 13	Fr.	Stop at 537	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1564 ---416109571 Male Hemizygous - DMD 100 2722 ---406223251 Male Hemizygous FRANCE DMD 112
p.Ile665PhefsX3	c.1332_1993dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 16	Fr.	Stop at 667	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1633 ---420612011 Male Hemizygous FRANCE DMD 106 389 ---54461011 Male Hemizygous - DMD 1
p.Ala1358PhefsX3	c.1332_4072dup	11-12	444	CRD-repeat #1		Large rearrangement Duplication from exon 12 to 29		Stop at 1360	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3428 ---51583011 Male Hemizygous FRANCE BMD 1
p.Lys494_Val495ins170AA	c.1483_1993dup	13	495	CRD-repeat #2		Large rearrangement Duplication from exon 13 to 16		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3460 ---59529011 Male Hemizygous FRANCE Pending 1
p.Leu724TyrfsX48	c.1603_2169dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 17	Fr.	Stop at 771	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 139 ---50900011 Male Hemizygous - DMD 1 390 ---51907011 Male Hemizygous - DMD 1 391 ---52690011 Male Hemizygous - DMD 1
p.Lys534_Val535ins230AA	c.1603_2293dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 18	InF	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2724 ---406402271 Male Hemizygous FRANCE Pending 112 3387 ---59168011 Male Hemizygous FRANCE BMD 1
p.Lys534_Val535ins823AA	c.1603_4072dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 29		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3400 ---59423011 Male Hemizygous FRANCE BMD 1
p.Lys534_Val535ins1612AA	c.1603_6439dup	14	535	CRD-repeat #2		Large rearrangement Duplication from exon 14 to 44	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2454 ---424613991 Male Hemizygous SPAIN DMD 106
p.Ala604_Val605ins658AA	c.1813_3787dup	16	605	CRD-repeat #3		Large rearrangement Duplication from exon 16 to 27	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 435 ---54082011 Male Hemizygous FRANCE BMD 1
p.Ala604_Val605ins1542AA	c.1813_6439dup	16	605	CRD-repeat #3		Large rearrangement Duplication from exon 16 to 44	InF	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2731 ---407605311 Male Hemizygous FRANCE Pending 112
p.Leu724PhefsX12	c.1993_2169dup	17	665	CRD-repeat #3		Large rearrangement Duplication from exon 17 to 17	Fr.	Stop at 735	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2143 ---9094104MA1 Male Hemizygous TUNISIA DMD 114 3272 ---58432011 Male Hemizygous FRANCE Pending 1
p.Gln664_Ile665ins1482AA	c.1993_6439dup	17	665	CRD-repeat #3		Large rearrangement Duplication from exon 17 to 44	InF	In frame ins	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2702 ---454626461 Male Hemizygous FRANCE Pending 106 3492 ---57694011 Male Hemizygous FRANCE BMD 1 3493 ---57694042 Female Heterozygous FRANCE Symptomatic carrier 1
p.Glu1263ValfsX4	c.2169_3787dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 27	Fr.	Stop at 1266	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2742 ---409517081 Male Hemizygous FRANCE DMD 112
p.Ser1308ValfsX4	c.2169_3922dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 28	Fr.	Stop at 1311	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 157 ---53672011 Male Hemizygous - DMD 1
p.Ala1358ValfsX4	c.2169_4072dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 29	Fr.	Stop at 1361	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 392 ---50100111 Male Hemizygous FRANCE DMD 1 3464 ---50100011 Male Hemizygous FRANCE DMD 1
p.Ala1616ValfsX4	c.2169_4846dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 34	Fr.	Stop at 1619	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2118 ---505105501 Male Hemizygous FRANCE DMD 110 3382 ---50198111 Male Hemizygous FRANCE DMD 1
p.Glu2147ValfsX4	c.2169_6439dup	17-18	723	CRD-repeat #4		Large rearrangement Duplication from exon 18 to 44	Fr.	Stop at 2150	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2741 ---409318771 Male Hemizygous FRANCE DMD 112
p.Glu794GlyfsX8	c.2293_2381dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 19		Stop at 801	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3332 ---58072011 Male Hemizygous FRANCE IMD 1 3333 ---58072111 Male Hemizygous FRANCE IMD 1
p.Asn764_Ala765ins647AA	c.2293_4234dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 30		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2449 ---50501011 Male Hemizygous FRANCE DMD 1
p.Arg2098ProfsX2	c.2293_6291dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 43		Stop at 2099	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3299 ---51645011 Male Hemizygous FRANCE DMD 1
p.Asn764_Ala765ins1382AA	c.2293_6439dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 44		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2571 ---71575803261 Male Hemizygous FRANCE DMD 116
p.Asn764_Ala765ins1750AA	c.2293_7543dup	19	765	CRD-repeat #4		Large rearrangement Duplication from exon 19 to 51	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2346 ---441220691 Male Hemizygous FRANCE BMD 106 2677 ---441223341 Male Hemizygous FRANCE Pending 106
p.Asp875ArgfsX15	c.2381_2623dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 20	Fr.	Stop at 889	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2071 ---439021131 Male Hemizygous FRANCE DMD 106
p.Ala1203ValfsX14	c.2381_3604dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 26	Fr.	Stop at 1216	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2480 ---906125751 Male Hemizygous FRANCE IMD 127 3502 ---55979042 Female Heterozygous FRANCE Symptomatic carrier 1
p.Arg2098GlyfsX3	c.2381_6291dup	19-20	794	CRD-repeat #4		Large rearrangement Duplication from exon 20 to 43	Fr.	Stop at 2100	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2639 ---449724392 Female Heterozygous FRANCE Symptomatic carrier 106
p.Lys874_Asp875ins1865AA	c.2623_8218dup	21	875	CRD-repeat #5		Large rearrangement Duplication from exon 21 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 636 ---51715011 Male Hemizygous FRANCE DMD 1
p.Asn1055PhefsX14	c.2804_3163dup	21-22	935	CRD-repeat #6		Large rearrangement Duplication from exon 22 to 23	Fr.	Stop at 1068	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2347 ---441821211 Male Hemizygous FRANCE DMD 106
p.Val1559PhefsX14	c.2804_4675dup	21-22	935	CRD-repeat #6		Large rearrangement Duplication from exon 22 to 33	Fr.	Stop at 1572	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1978 ---406904531 Male Hemizygous FRANCE DMD 106
p.Lys1201_Arg1202ins414AA	c.3604_4846dup	27	1202	CRD-repeat #8		Large rearrangement Duplication from exon 27 to 34	InF	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2687 ---3225129231 Male Hemizygous FRANCE BMD 115 2688 ---3225147021 Male Hemizygous FRANCE BMD 115
p.Cys1258LeufsX21	c.3772ins25	27	1258	CRD-repeat #8		Large rearrangement	Fr.	Stop at 1278	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3384 ---54616011 Male Hemizygous FRANCE DMD 1
p.Glu1262_Glu1263ins992AA	c.3787_6763dup	28	1263	CRD-repeat #8		Large rearrangement Duplication from exon 28 to 46	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2364 ---9013207m1 Male Hemizygous FRANCE BMD 114
p.Arg2098HisfsX5	c.3922_6291dup	29	1308	CRD-repeat #9		Large rearrangement Duplication from exon 29 to 43	Fr.	Stop at 2102	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 393 ---54576011 Male Hemizygous - DMD 1
p.Glu1357_Ala1358ins789AA	c.4072_6439dup	30	1358	CRD-repeat #9		Large rearrangement Duplication from exon 30 to 44		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2575 ---7C215207131 Male Hemizygous FRANCE DMD 116
p.Lys1615_Ala1616ins1124AA	c.4846_8218dup	35	1616	CRD-repeat #12		Large rearrangement Duplication from exon 35 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1667 ---438619321 Male Hemizygous FRANCE BMD 106
p.Arg2098IlefsX2	c.6118_6291dup	43	2040	CRD-repeat #16		Large rearrangement Duplication from exon 43 to 43	Fr.	Stop at 2099	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 423 ---53015011 Male Hemizygous - BMD 1 3296 ---51111011 Male Hemizygous FRANCE DMD 1
p.Lys2039_Asn2040ins265AA	c.6118_6913dup	43	2040	CRD-repeat #16		Large rearrangement Duplication from exon 43 to 47	Fr.	In frame ins	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2042 ---303400151 Male Hemizygous FRANCE BMD 122 2043 ---303400161 Male Hemizygous FRANCE BMD 122 1011 ---51078111 Male Hemizygous - BMD 1 444 ---51078011 Male Hemizygous - BMD 1 1012 ---51078211 Male Hemizygous - BMD 1
p.Glu2147AlafsX3	c.6291_6439dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 44	Fr.	Stop at 2149	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1559 ---412711121 Male Hemizygous FRANCE DMD 100 2663 ---412713842 Female Heterozygous FRANCE Symptomatic carrier 106 3315 ---59391011 Male Hemizygous FRANCE DMD 1 3416 ---57876011 Male Hemizygous FRANCE DMD 1 3455 ---57349011 Male Hemizygous FRANCE DMD 1
p.Arg2401AlafsX3	c.6291_7201dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 49	Fr.	Stop at 2403	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1360 ---57427011 Male Hemizygous FRANCE DMD 1
p.Ile2554SerfsX17	c.6291_7661dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 52		Stop at 2570	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3469 ---51313011 Male Hemizygous FRANCE DMD 1
p.Gln2625AlafsX3	c.6291_7873dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 53	Fr.	Stop at 2627	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 140 ---50842011 Male Hemizygous - DMD 1
p.Asp2740AlafsX3	c.6291_8218dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 55	Fr.	Stop at 2742	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2726 ---406701991 Male Hemizygous FRANCE DMD 112
p.Leu2981IlefsX2	c.6291_8938dup	43-44	2097	CRD-repeat #16		Large rearrangement Duplication from exon 44 to 59	Fr.	Stop at 2982	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1634 ---401508881 Male Hemizygous FRANCE BMD 106
p.Leu2206AsnfsX16	c.6439_6615dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 45		Stop at 2221	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2573 ---72325704851 Male Hemizygous FRANCE DMD 116 2574 ---72325705261 Male Hemizygous FRANCE DMD 116
p.Lys2146_Glu2147ins158AA	c.6439_6913dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 47		In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2600 ---413508312 Female Heterozygous FRANCE Symptomatic carrier 106 2610 ---433017711 Male Hemizygous FRANCE DMD 106
p.Lys2146_Glu2147ins254AA	c.6439_7201dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 49	Fr.	In frame ins	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1752 ---71499101631 Male Hemizygous FRANCE DMD 116 1753 ---71499101671 Male Hemizygous FRANCE DMD 119 3407 ---51586011 Male Hemizygous FRANCE DMD 1 2432 ---51586111 Male Hemizygous FRANCE DMD 1
p.Ser2437X	c.6439_7310dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 50		Stop at 2437	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3409 ---50813011 Male Hemizygous FRANCE DMD 1
p.Lys2146_Glu2147ins593AA	c.6439_8218dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 55	InF	In frame ins	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1741 ---71572903101 Male Hemizygous FRANCE Pending 116 3408 ---50158011 Male Hemizygous FRANCE DMD 1
p.Lys2146_Glu2147ins882AA	c.6439_9085dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 60	InF	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2683 ---3218123701 Male Hemizygous FRANCE DMD 115
p.Asn3075LysfsX17	c.6439_9225dup	45	2147	CRD-repeat #17		Large rearrangement Duplication from exon 45 to 62	Fr.	Stop at 3091	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1635 ---414116321 Male Hemizygous FRANCE DMD 106
p.Val2305AlafsX17	c.6615_6913dup	45-46	2205	CRD-repeat #17		Large rearrangement Duplication from exon 46 to 47	Fr.	Stop at 2321	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2446 ---405206221 Male Hemizygous FRANCE Pending 126 154 ---50621011 Male Hemizygous - DMD 1
p.Asp2740AlafsX17	c.6615_8218dup	45-46	2205	CRD-repeat #17		Large rearrangement Duplication from exon 46 to 55	Fr.	Stop at 2756	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2168 ---91280EF41 Male Hemizygous FRANCE DMD 114 2169 ---91280EF81 Male Hemizygous FRANCE DMD 114
p.Arg3673PhefsX6	c.6913_11015dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 77	Fr.	Stop at 3678	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2023 ---436219111 Male Hemizygous FRANCE DMD 106
p.Lys2304_Val2305ins96AA	c.6913_7201dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 49	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 ---54747011 Male Hemizygous FRANCE DMD 1
p.Ser2437CysfsX7	c.6913_7310dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 50	Fr.	Stop at 2443	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2718 ---400205811 Male Hemizygous FRANCE DMD 106 686 ---55007011 Male Hemizygous - DMD 1 687 ---55007111 Male Hemizygous - DMD 1 3339 ---59008032 Female Heterozygous FRANCE Symptomatic carrier 1
p.Val2677PhefsX16	c.6913_8028dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 54	Fr.	Stop at 2692	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3503 ---59807011 Male Hemizygous FRANCE DMD 1
p.Thr3055SerfsX7	c.6913_9164dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 61	Fr.	Stop at 3061	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 394 ---52196011 Male Hemizygous - DMD 1
p.Ala3096GlyfsX7	c.6913_9287dup	48	2305	CRD-repeat #18		Large rearrangement Duplication from exon 48 to 63	Fr.	Stop at 3102	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1693 ---71618600021 Male Hemizygous FRANCE DMD 119
p.Ser2437X	c.7099_7310dup	49	2367	CRD-repeat #19		Large rearrangement Duplication from exon 49 to 50	Fr.	Stop at 2437	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1593 ---422512641 Male Hemizygous FRANCE DMD 100 141 ---53188011 Male Hemizygous - DMD 1 1315 ---53188111 Male Hemizygous - DMD 1 1316 ---53188211 Male Hemizygous - DMD 1
p.Ser2437X	c.7201_7310dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 50	Fr.	Stop at 2437	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2222 ---9214756m1 Male Hemizygous FRANCE DMD 114 2837 ---58840011 Male Hemizygous FRANCE DMD 1
p.Lys2400_Arg2401ins224AA	c.7201_7873dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 53		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3357 ---59343032 Female Hemizygous FRANCE DMD 1
p.Lys2400_Arg2401ins339AA	c.7201_8218dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2488 ---909304181 Male Hemizygous FRANCE DMD 127
p.Ser2798GlyfsX3	c.7201_8391dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 56	Fr.	Stop at 2800	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3507 ---59516032 Female Heterozygous FRANCE Symptomatic carrier 1
p.Lys2400_Arg2401ins628AA	c.7201_9085dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 60	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 149 ---51493011 Male Hemizygous - DMD 1
p.Thr3055LysfsX9	c.7201_9164dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 61	Fr.	Stop at 3063	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2119 ---505205221 Male Hemizygous FRANCE DMD 110
p.Asn3075LysfsX4	c.7201_9225dup	50	2401	CRD-repeat #19		Large rearrangement Duplication from exon 50 to 62	Fr.	Stop at 3078	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2729 ---407325131 Male Hemizygous FRANCE DMD 112
p.Ala2515LeufsX9	c.7310_7543dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 51	Fr.	Stop at 2523	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2684 ---3218123701 Male Hemizygous FRANCE DMD 115 396 ---50355011 Male Hemizygous - DMD 1 1099 ---57090011 Male Hemizygous - DMD 1
p.Asp2740LeufsX9	c.7310_8218dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 55	Fr.	Stop at 2748	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 ---54953011 Male Hemizygous - DMD 1
p.Val3029LeufsX9	c.7310_9085dup	50-51	2437	CRD-hinge region #3		Large rearrangement Duplication from exon 51 to 60	Fr.	Stop at 3037	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 142 ---52214011 Male Hemizygous FRANCE DMD 1
p.Ile2554SerfsX33	c.7543_7661dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 52	Fr.	Stop at 2586	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2367 ---9061422m1 Male Hemizygous FRANCE DMD 114 2371 ---90980FG81 Male Hemizygous FRANCE DMD 114 1258 ---52998011 Male Hemizygous - DMD 1 2998 ---50148011 Male Hemizygous - DMD 1 3324 ---59510011 Male Hemizygous FRANCE DMD 1 3372 ---50667011 Male Hemizygous FRANCE DMD 1
p.Val2677GlnfsX23	c.7543_8028dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 54	Fr.	Stop at 2699	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1625 ---427116261 Male Hemizygous FRANCE DMD 106 696 ---55370011 Male Hemizygous - DMD 1
p.Lys2514_Ala2515ins465AA	c.7543_8938dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 59		In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3399 ---55598011 Male Hemizygous FRANCE BMD 1
p.Thr3055SerfsX33	c.7543_9164dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 61	Fr.	Stop at 3087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 143 ---54114011 Male Hemizygous FRANCE DMD 1
p.Asn3075LysfsX24	c.7543_9225dup	52	2515	CRD-repeat #20		Large rearrangement Duplication from exon 52 to 62	Fr.	Stop at 3098	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1624 ---426715221 Male Hemizygous FRANCE DMD 106
p.Gln2625LeufsX22	c.7661_7873dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 53	Fr.	Stop at 2646	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2377 ---9236717m1 Male Hemizygous FRANCE DMD 114 2519 ---715337ABY481 Male Hemizygous FRANCE DMD 121
p.Arg2676SerfsX2	c.7661_8028dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 54	Fr.	Stop at 2677	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1602 ---425114411 Male Hemizygous FRANCE DMD 100
p.Asp2740LeufsX22	c.7661_8218dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 55	Fr.	Stop at 2761	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2611 ---433017711 Male Hemizygous FRANCE DMD 106 3010 ---50664032 Female Heterozygous FRANCE Symptomatic carrier 1 2858 ---50328032 Female Heterozygous FRANCE Symptomatic carrier 1 2938 ---50328111 Male Mosaic (Somatic) FRANCE Asymptomatic 1
p.Val3029LeufsX22	c.7661_9085dup	52-53	2554	CRD-repeat #20		Large rearrangement Duplication from exon 53 to 60	Fr.	Stop at 3050	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2906 ---51883011 Male Hemizygous FRANCE DMD 1
p.Lys2624_Gln2625ins115AA	c.7873_8218dup	54	2625	CRD-repeat #21		Large rearrangement Duplication from exon 54 to 55	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 398 ---51357011 Male Hemizygous - DMD 1
p.Lys2624_Gln2625ins355AA	c.7873_8938dup	54	2625	CRD-repeat #21		Large rearrangement Duplication from exon 54 to 59	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2372 ---9108134m1 Male Hemizygous FRANCE DMD 114
p.Asp2740GlyfsX3	c.8028_8218dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 55		Stop at 2742	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3236 ---52281011 Male Hemizygous FRANCE DMD 1
p.Ala2980GlyfsX3	c.8028_8938dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 59	Fr.	Stop at 2982	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 144 ---51418011 Male Hemizygous - DMD 1
p.Val3029GlyfsX3	c.8028_9085dup	54-55	2676	CRD-repeat #21		Large rearrangement Duplication from exon 55 to 60	Fr.	Stop at 3031	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 ---50989011 Male Hemizygous - DMD 1
p.Gln2739_Asp2740ins289AA	c.8218_9085dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 60	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1756 ---71618500071 Male Hemizygous FRANCE Pending 116
p.Thr3055ArgfsX5	c.8218_9164dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 61	Fr.	Stop at 3059	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2094 ---9022980m1 Male Hemizygous FRANCE DMD 114
p.Asn3075LysfsX25	c.8218_9225dup	56	2740	CRD-repeat #22		Large rearrangement Duplication from exon 56 to 62		Stop at 3099	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2557 ---71683600461 Male Hemizygous FRANCE DMD 121 400 ---50311011 Male Hemizygous - DMD 1 401 ---50435011 Male Hemizygous FRANCE DMD 1 402 ---51786011 Male Hemizygous FRANCE DMD 1 3360 ---51650011 Male Hemizygous FRANCE DMD 1 2606 ---54377011 Male Hemizygous FRANCE DMD 1 3588 ---50435111 Male Hemizygous FRANCE DMD 1 3589 ---50435211 Male Hemizygous FRANCE DMD 1
p.Asn3075LysfsX7	c.8548_9225dup	58	2850	CRD-repeat #23		Large rearrangement Duplication from exon 58 to 62	Fr.	Stop at 3081	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1958 ---403802231 Male Hemizygous FRANCE DMD 106 1959 ---403802221 Male Hemizygous FRANCE DMD 106 1960 ---403802241 Male Hemizygous FRANCE DMD 106
p.Thr3055SerfsX18	c.8938_9164dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 61		Stop at 3072	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3427 ---50610011 Male Hemizygous FRANCE DMD 1
p.Asn3075LysfsX10	c.8938_9225dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 62	Fr.	Stop at 3084	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1761 ---72605205221 Male Hemizygous FRANCE DMD 116 1762 ---72605205231 Male Hemizygous FRANCE DMD 116 3080 ---57646011 Male Hemizygous FRANCE DMD 1
p.Tyr3217CysfsX18	c.8938_9650dup	60	2980	CRD-repeat #24		Large rearrangement Duplication from exon 60 to 66	Fr.	Stop at 3234	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3563 ---57647011 Male Hemizygous FRANCE DMD 1
p.His3076ValfsX42	c.9164_9225dup	61-62	3055	CRD-hinge region #4		Large rearrangement Duplication from exon 62 to 62	Fr.	Stop at 3117	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2220 ---9212768m1 Male Hemizygous FRANCE DMD 114
p.	c.9225_11056dup	62-63	3075	CRD-hinge region #4		Large rearrangement Duplication from exon 63 to 79	Fr.	Stop at 3707	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2589 ---9108134m1 Male Hemizygous FRANCE DMD 114
p.Ala3270ProfsX22	c.9225_9808dup	62-63	3075	CRD-hinge region #4		Large rearrangement Duplication from exon 63 to 67	Fr.	Stop at 3291	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3555 ---59865011 Male Hemizygous FRANCE DMD 1