The UMD-DMD France mutations database
Point mutations (274 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Trp4X	c.11G>A	1	4	Dp427m unique N-Ter		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2288 ---179-5-m1 Male Hemizygous FRANCE BMD 114
p.Asp46Val	c.137A>T	3	46	Actin binding domain		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3143 ---475-0-1 Male Hemizygous FRANCE BMD 1 3171 ---475-1-1 Male Hemizygous FRANCE BMD 1
p.Lys66X	c.196A>T	4	66	Actin binding domain		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3491 ---753-0-1 Male Hemizygous FRANCE DMD 1
p.Gly67X	c.199G>T	4	67	Actin binding domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3102 ---118-0-1 Male Hemizygous FRANCE DMD 1
p.Gln85X	c.253C>T	4	85	Actin binding domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3026 ---591-0-1 Male Hemizygous - DMD 10 3150 ---040-0-1 Male Hemizygous FRANCE IMD 1 2445 ---040-1-1 Male Hemizygous FRANCE IMD 1
p.Gln133X	c.397C>T	6	133	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2298 ---205-A-41 Male Hemizygous FRANCE DMD 114 2660 ---509-5-51 Male Hemizygous FRANCE Pending 106
p.Arg145X	c.433C>T	6	145	Actin binding domain		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1413 ---140-6-51 Male Hemizygous FRANCE DMD 100 2495 ---096-0-91 Male Hemizygous FRANCE DMD 106 2657 ---140-6-42 Female Heterozygous FRANCE Symptomatic carrier 106 2699 ---506-4-71 Male Hemizygous FRANCE DMD 106 2700 ---506-4-61 Male Hemizygous FRANCE DMD 106 3147 ---728-0-1 Male Hemizygous FRANCE DMD 1 3578 ---989-0-1 Male Hemizygous ALGERIA DMD 1
p.Ser147X	c.440C>A	6	147	Actin binding domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 639 ---066-0-1 Male Hemizygous - DMD 10
p.Gln189X	c.565C>T	7	189	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 966 ---626-0-1 Male Hemizygous FRANCE DMD 10
p.Gln190X	c.568C>T	7	190	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3118 ---818-0-1 Male Hemizygous FRANCE DMD 1
p.Ser191X	c.572C>G	7	191	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1504 ---021-3-81 Male Hemizygous FRANCE DMD 111
p.Gln194X	c.580C>T	7	194	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2285 ---174-0-31 Male Hemizygous FRANCE Pending 114
p.Arg195X	c.583C>T	7	195	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2245 ---044-1-m1 Male Hemizygous FRANCE BMD 114 2835 ---100-4-11 Male Hemizygous FRANCE DMD 1
p.Tyr205X	c.615T>A	7	205	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 679 ---551-0-1 Male Hemizygous INDIA DMD 10
p.Val218Gly	c.653T>G	8	218	Actin binding domain		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3583 ---999-0-1 Male Hemizygous FRANCE BMD 1
p.Gln249X	c.745C>T	8	249			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2270 ---142-D-11 Male Hemizygous FRANCE DMD 114
p.Gln277His	c.831G>T	8	277	CRD-hinge region #1		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2512 ---523-I-71 Male Hemizygous FRANCE BMD 121 2513 ---523-R-91 Male Hemizygous FRANCE BMD 121
p.Arg295X	c.883C>T	9	295	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2929 ---125-0-1 Male Hemizygous FRANCE BMD 1
p.Tyr301X	c.903C>A	9	301	CRD-hinge region #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2362 ---243-3-71 Male Hemizygous FRANCE DMD 100
p.Gln303X	c.907C>T	9	303	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3091 ---178-0-1 Male Hemizygous - BMD 1
p.Ser319X	c.956C>G	9	319	CRD-hinge region #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1415 ---159-9-81 Male Hemizygous FRANCE DMD 100
p.Leu322X	c.965T>A	10	322	CRD-hinge region #1		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3037 ---088-0-2 Male Hemizygous FRANCE DMD 10
p.Glu326X	c.976G>T	10	326	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3550 ---058-0-1 Male Hemizygous FRANCE DMD 1
p.Ser329X	c.986C>G	10	329	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3094 ---026-0-1 Male Hemizygous - DMD 1
p.Ser333X	c.998C>A	10	333	CRD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1297 ---280-0-1 Male Hemizygous FRANCE DMD 10 1298 ---280-1-1 Male Hemizygous FRANCE DMD 1
p.Gln365X	c.1093C>T	10	365	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1416 ---163-9-51 Male Hemizygous FRANCE DMD 100
p.Gly403X	c.1207G>T	11	403	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3477 ---949-0-1 Male Hemizygous FRANCE DMD 1
p.Lys411X	c.1231A>T	11	411	CRD-repeat #1		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3476 ---722-0-1 Male Hemizygous FRANCE DMD 1
p.Ser413X	c.1238C>A	11	413	CRD-repeat #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2269 ---137-0-11 Male Hemizygous FRANCE DMD 114
p.Gln421X	c.1261C>T	11	421	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2251 ---072-0-31 Male Hemizygous FRANCE DMD 114
p.Ser429X	c.1286C>G	11	429	CRD-repeat #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3061 ---760-0-1 Male Hemizygous - DMD 1
p.Trp431X	c.1292G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 709 ---505-0-1 Male Hemizygous FRANCE DMD 10
p.Trp431X	c.1293G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2355 ---360-8-51 Male Hemizygous FRANCE DMD 106 3213 ---802-0-2 Female Heterozygous - Symptomatic carrier 1
p.Asp451Tyr	c.1351G>T	12	451	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3573 ---027-0-1 Male Hemizygous FRANCE BMD 1
p.Trp463X	c.1388G>A	12	463	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1417 ---189-2-71 Male Hemizygous FRANCE DMD 100
p.Gln492X	c.1474C>T	12	492	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3484 ---364-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Arg539X	c.1615C>T	14	539	CRD-repeat #2		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1418 ---236-3-11 Male Hemizygous FRANCE DMD 100 2644 ---236-7-92 Female Heterozygous FRANCE Symptomatic carrier 106 2238 ---023-A-41 Male Hemizygous FRANCE DMD 114 2239 ---023-A-81 Male Hemizygous FRANCE DMD 114
p.Trp551X	c.1653G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3452 ---935-0-1 Male Hemizygous FRANCE DMD 1
p.Trp561X	c.1683G>A	14	561	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3030 ---802-0-1 Male Hemizygous SPAIN DMD 10
p.Phe590Arg	c.[1768T>C; 1769T>G]	15	590	CRD-repeat #3		Small rearrangement	Ts/Tv	T->C/T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3516 ---981-0-1 Male Hemizygous FRANCE DMD 1
p.Leu606X	c.1817T>G	16	606	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3087 ---772-0-1 Male Hemizygous - DMD 1
p.Gln664X	c.1990C>T	16	664	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3034 ---800-0-1 Male Hemizygous FRANCE DMD 10
p.Gln667X	c.1999C>T	17	667	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3103 ---272-0-1 Male Hemizygous FRANCE DMD 1
p.Gln673X	c.2017C>T	17	673	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2710 ---822-4-8081 Male Hemizygous FRANCE DMD 116
p.Gln713X	c.2137C>T	17	713	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3271 ---921-0-1 Male Hemizygous FRANCE DMD 1
p.Gln743X	c.2227C>T	18	743	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2255 ---077-0-m1 Male Hemizygous FRANCE DMD 114 2913 ---104-0-1 Male Hemizygous FRANCE DMD 1 2915 ---104-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Glu761X	c.2281G>T	18	761	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1642 ---083-5-71 Male Hemizygous FRANCE DMD 106
p.Arg768X	c.2302C>T	19	768	CRD-repeat #4		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1419 ---259-5-41 Male Hemizygous FRANCE DMD 100 1506 ---037-0-31 Male Hemizygous FRANCE DMD 111 3549 ---449-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Glu772X	c.2314G>T	19	772	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2766 ---511-5-11 Male Hemizygous FRANCE DMD 106
p.Gln790X	c.2368C>T	19	790	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2268 ---130-E-21 Male Hemizygous FRANCE DMD 114
p.Asn793Ser	c.2378A>G	19	793	CRD-repeat #4		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3494 ---315-0-1 Male Hemizygous FRANCE DMD 1
p.Gln803X	c.2407C>T	20	803	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 ---825-0-1 Male Hemizygous - DMD 1
p.Gln841X	c.2521C>T	20	841	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1039 ---573-0-1 Male Hemizygous FRANCE DMD 10
p.Gln844X	c.2530C>T	20	844	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3115 ---836-0-1 Male Hemizygous FRANCE DMD 1
p.Leu853X	c.2558T>A	20	853	CRD-repeat #5		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1420 ---239-4-11 Male Hemizygous FRANCE DMD 100
p.Gly901X	c.2701G>T	21	901	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 961 ---554-0-1 Male Hemizygous FRANCE DMD 10
p.Gln945X	c.2833C>T	22	945	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2383 ---309-7-21 Male Hemizygous FRANCE DMD 106
p.Gln957X	c.2869C>T	22	957	CRD-repeat #6		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2295 ---192-8-m1 Male Hemizygous FRANCE DMD 114 2534 ---424-1-91 Male Hemizygous FRANCE DMD 106
	c.2955_2972delinsTT	23	985	CRD-repeat #6		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2715 ---188-0-m1 Male Hemizygous FRANCE DMD 114
p.Gln990X	c.2968C>T	23	990	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2771 ---262-3-11 Male Hemizygous FRANCE DMD 106
p.Tyr997X	c.2991C>G	23	997	CRD-repeat #6		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2256 ---080-6-m1 Male Hemizygous FRANCE DMD 114 2257 ---080-6-m1 Male Hemizygous FRANCE DMD 114
p.Glu1021X	c.3061G>T	23	1021	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2361 ---211-3-61 Male Hemizygous FRANCE DMD 100
p.Glu1026X	c.3076G>T	23	1026	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3295 ---756-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1051X	c.3151C>T	23	1051	CRD-repeat #7		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1655 ---316-7-41 Male Hemizygous FRANCE DMD 106 3386 ---128-0-1 Male Hemizygous FRANCE DMD 1 3425 ---166-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1113X	c.3337C>T	25	1113	CRD-repeat #7		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3070 ---785-0-1 Male Hemizygous FRANCE BMD 1 3072 ---785-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Glu1133X	c.3397G>T	25	1133	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1584 ---200-1-31 Male Hemizygous FRANCE DMD 106
p.Gln1143X	c.3427C>T	25	1143	CRD-repeat #7		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1422 ---154-9-61 Male Hemizygous FRANCE DMD 100
p.Glu1179X	c.3535G>T	26	1179	CRD-repeat #8		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2626 ---442-2-71 Male Hemizygous FRANCE DMD 106 3104 ---113-1-1 Male Hemizygous FRANCE Pending 1 3105 ---113-0-1 Male Hemizygous FRANCE DMD 1 3397 ---113-2-1 Male Hemizygous FRANCE Pending 1 3398 ---113-3-1 Male Hemizygous FRANCE Pending 1
p.Gln1194X	c.3580C>T	26	1194	CRD-repeat #8		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2273 ---146-A-11 Male Hemizygous FRANCE DMD 114 3201 ---916-0-1 Male Hemizygous FRANCE DMD 1
p.Leu1236X	c.3707T>A	27	1236	CRD-repeat #8		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3406 ---113-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Trp1249X	c.3746G>A	27	1249	CRD-repeat #8		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1615 ---317-7-21 Male Hemizygous FRANCE DMD 106
p.Tyr1274X	c.3822C>A	28	1274	CRD-repeat #9		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3068 ---620-0-1 Male Hemizygous - BMD 1
p.Leu1312X	c.3935T>A	29	1312	CRD-repeat #9		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1590 ---212-2-21 Male Hemizygous FRANCE BMD 106
p.Arg1314X	c.3940C>T	29	1314	CRD-repeat #9		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2656 ---346-4-31 Male Hemizygous FRANCE Pending 106 1629 ---346-8-71 Male Hemizygous FRANCE BMD 106 728 ---357-0-1 Male Hemizygous FRANCE BMD 1
p.Gln1362X	c.4084C>T	30	1362	CRD-repeat #9		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3141 ---520-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1370X	c.4108C>T	30	1370	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1423 ---223-3-71 Male Hemizygous FRANCE DMD 100
p.Gln1383X	c.4147C>T	30	1383	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2022 ---380-9-41 Male Hemizygous FRANCE DMD 106
p.Leu1417X	c.4250T>A	31	1417	CRD-repeat #10		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1575 ---182-0-61 Male Hemizygous FRANCE BMD 124
p.Gln1432X	c.4294C>T	31	1432	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3121 ---849-0-1 Male Hemizygous - BMD 1
p.Tyr1509X	c.4527T>A	33	1509	CRD-repeat #11		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3120 ---804-0-1 Male Hemizygous FRANCE DMD 1
p.Lys1571X	c.4711A>T	34	1571	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2277 ---150-A-11 Male Hemizygous FRANCE DMD 114 2278 ---150-A-21 Male Hemizygous FRANCE DMD 114
p.Lys1575X	c.4723A>T	34	1575	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3401 ---963-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1577X	c.4729C>T	34	1577	CRD-repeat #12		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2647 ---429-1-81 Male Hemizygous FRANCE DMD 106 2291 ---185-6-MA1 Male Hemizygous FRANCE DMD 114
p.Glu1593X	c.4777G>T	34	1593	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1424 ---116-7-91 Male Hemizygous FRANCE DMD 100
	c.4780_4780delinsGAGATCATATCTGTCATATGATCATATCTTTGTCATA	34	1594	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2704 ---143-8-41 Male Hemizygous FRANCE DMD 106
p.Glu1601X	c.4800_4801delinsGT	34	1600	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2714 ---151-2-m1 Male Hemizygous FRANCE DMD 114
p.Gln1618X	c.4852C>T	35	1618	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2261 ---092-8-m1 Male Hemizygous FRANCE DMD 114
p.Gln1624X	c.4870C>T	35	1624	CRD-repeat #12		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2276 ---149-B-21 Male Hemizygous FRANCE DMD 114
p.Lys1652X	c.4954A>T	35	1652	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3293 ---943-0-1 Male Hemizygous INDIA DMD 1
p.Arg1666X	c.4996C>T	35	1666	CRD-repeat #12		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1425 ---275-5-81 Male Hemizygous FRANCE DMD 100 1426 ---057-3-61 Male Hemizygous FRANCE DMD 100 2252 ---074-0-71 Male Hemizygous FRANCE DMD 114 3153 ---060-2-1 Male Hemizygous FRANCE DMD 1 3393 ---060-0-1 Male Hemizygous FRANCE DMD 1 2403 ---060-1-1 Male Hemizygous FRANCE DMD 1
p.Trp1694X	c.5082G>A	36	1694	CRD-repeat #13		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3443 ---015-0-1 Male Hemizygous FRANCE DMD 1
p.Arg1763X	c.5287C>T	37	1763	CRD-repeat #13		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1710 ---C16-8-6261 Male Hemizygous FRANCE Pending 116 963 ---479-0-1 Male Hemizygous - BMD 1 1771 ---036-0-1 Male Hemizygous - BMD 1 3396 ---324-0-1 Male Hemizygous FRANCE BMD 1
p.Lys1772X	c.5314A>T	37	1772	CRD-repeat #13		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1427 ---158-9-31 Male Hemizygous FRANCE Pending 100
p.Gln1803X	c.5407C>T	38	1803	CRD-repeat #14		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2450 ---392-0-21 Male Hemizygous FRANCE BMD 106 2840 ---841-0-1 Male Hemizygous FRANCE BMD 1
p.Leu1827X	c.5480T>A	39	1827	CRD-repeat #14		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2762 ---461-3-91 Male Hemizygous FRANCE BMD 106
p.Arg1844X	c.5530A>T	39	1844	CRD-repeat #14		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1669 ---384-9-81 Male Hemizygous FRANCE Pending 106 3252 ---787-0-1 Male Hemizygous SWITZERLAND DMD 1
p.Gln1851X	c.5551C>T	39	1851	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3404 ---312-0-1 Male Hemizygous FRANCE DMD 1
p.Lys1870X	c.5608A>T	40	1870	CRD-repeat #14		Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2695 ---479-5-91 Male Hemizygous FRANCE DMD 106 3148 ---851-0-2 Female Heterozygous - Symptomatic carrier 1 3451 ---823-0-1 Male Hemizygous GERMANY DMD 1
p.Trp1879X	c.5637G>A	40	1879	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 681 ---547-0-1 Male Hemizygous U.S.A. DMD 10
p.Gln1885X	c.5653C>T	40	1885	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2579 ---383-9-71 Male Hemizygous FRANCE DMD 106
p.Arg1967X	c.5899C>T	41	1967	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1666 ---308-6-71 Male Hemizygous FRANCE DMD 106
p.Gln2080X	c.6238C>T	43	2080	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 683 ---448-0-1 Male Hemizygous FRANCE DMD 10
p.Trp2085X	c.6255G>A	43	2085	CRD-repeat #16		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2244 ---043-B-71 Male Hemizygous FRANCE DMD 114 3342 ---948-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr2092X	c.6276C>G	43	2092	CRD-repeat #16		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1428 ---196-1-71 Male Hemizygous FRANCE DMD 100
p.Arg2095X	c.6283C>T	43	2095	CRD-repeat #16		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1429 ---269-6-51 Male Hemizygous FRANCE Pending 100 670 ---287-0-1 Male Hemizygous - DMD 10
p.Arg2098X	c.6292C>T	44	2098	CRD-repeat #16		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2712 ---486-4-01 Male Hemizygous FRANCE DMD 106 1724 ---385-0-1 Male Hemizygous - DMD 10 3338 ---913-0-1 Male Hemizygous BRAZIL DMD 1 3540 ---786-0-1 Male Hemizygous FRANCE DMD 1
p.Glu2122X	c.6364G>T	44	2122	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 794 ---430-0-1 Male Hemizygous FRANCE DMD 10
p.Gln2245X	c.6733C>T	46	2245	CRD-repeat #18		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3112 ---248-0-1 Male Hemizygous - DMD 1
p.Glu2248X	c.6742G>T	46	2248	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 677 ---125-0-1 Male Hemizygous - DMD 10
p.Leu2256X	c.[6766C>T; 6767T>A]	47	2256	CRD-repeat #18		Small rearrangement	Ts/Tv	C->T/T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3294 ---101-0-1 Male Hemizygous ALGERIA DMD 1 3310 ---101-1-1 Male Hemizygous FRANCE DMD 1
p.Lys2294X	c.6880A>T	47	2294	CRD-repeat #18		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1430 ---247-4-71 Male Hemizygous FRANCE DMD 100
p.Leu2337X	c.7010T>G	48	2337	CRD-repeat #19		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1577 ---185-0-31 Male Hemizygous SPAIN DMD 106
p.Glu2369X	c.7105G>T	49	2369	CRD-repeat #19		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 675 ---552-0-1 Male Hemizygous FRANCE BMD 1
p.Glu2460X	c.7378G>T	51	2460	CRD-hinge region #3		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2867 ---169-0-1 Male Hemizygous FRANCE DMD 1
p.Gln2522X	c.7564C>T	52	2522	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1431 ---110-6-61 Male Hemizygous FRANCE DMD 105
p.Arg2553X	c.7657C>T	52	2553	CRD-repeat #20		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2586 ---033-3-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2281 ---160-9-m1 Male Hemizygous FRANCE DMD 114 1611 ---284-5-61 Male Hemizygous FRANCE DMD 106 2991 ---737-0-1 Male Hemizygous SPAIN DMD 1 1643 ---463-0-1 Male Hemizygous FRANCE DMD 10 3266 ---050-0-1 Male Hemizygous FRANCE DMD 1
p.Leu2579X	c.7736T>A	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1483 ---297-6-31 Male Hemizygous BELGIUM DMD 106
p.Trp2670X	c.8009G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3302 ---097-0-1 Male Hemizygous FRANCE DMD 1
p.Arg2680X	c.8038C>T	55	2680	CRD-repeat #21		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1432 ---272-5-61 Male Hemizygous AUSTRALIA DMD 100 1031 ---521-0-1 Male Hemizygous FRANCE DMD 10
p.Gln2692X	c.8074C>T	55	2692	CRD-repeat #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2539 ---413-2-61 Male Hemizygous FRANCE DMD 106
p.Glu2726X	c.8176G>T	55	2726	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1433 ---147-9-31 Male Hemizygous FRANCE DMD 105
p.Trp2738X	c.8214G>A	55	2738	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1612 ---285-6-81 Male Hemizygous FRANCE Pending 106
p.Trp2807X	c.8420G>A	57	2807	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 689 ---593-0-1 Male Hemizygous FRANCE DMD 10
p.Arg2870X	c.8608C>T	58	2870	CRD-repeat #23		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2300 ---217-2-A1 Male Hemizygous FRANCE DMD 114 2745 ---100-8-81 Male Hemizygous FRANCE DMD 112 2746 ---100-0-21 Male Hemizygous FRANCE DMD 112 3162 ---048-0-1 Male Hemizygous FRANCE DMD 1 2852 ---176-0-1 Male Hemizygous FRANCE DMD 1
p.Glu2890Lys	c.8668G>A	58-59	2890	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3568 ---100-4-11 Male Hemizygous FRANCE DMD 1
p.Gln2898X	c.8692C>T	59	2898	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3029 ---736-0-2 Female Heterozygous - Symptomatic carrier 1
p.Arg2905X	c.8713C>T	59	2905	CRD-repeat #23		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2584 ---106-3-m2 Female Heterozygous FRANCE Symptomatic carrier 114 2260 ---089-7-m1 Male Hemizygous FRANCE DMD 114
p.Gln2907X	c.8719C>T	59	2907	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2872 ---057-0-1 Male Hemizygous FRANCE IMD 1
p.Glu2910X	c.8728G>T	59	2910	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3018 ---111-0-1 Male Hemizygous - DMD 10
p.Gln2937X	c.8809C>T	59	2937	CRD-repeat #24		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3421 ---956-0-1 Male Hemizygous ISRAEL DMD 1
p.Gln2972X	c.8914C>T	59	2972	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1434 ---089-6-51 Male Hemizygous FRANCE DMD 102 2540 ---393-9-41 Male Hemizygous FRANCE Pending 106
p.Arg2982X	c.8944C>T	60	2982	CRD-repeat #24		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2613 ---489-4-31 Male Hemizygous FRANCE DMD 106 960 ---633-0-1 Male Hemizygous FRANCE DMD 10
p.Gln3050X	c.9148C>T	61	3050	CRD-hinge region #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1435 ---273-6-21 Male Hemizygous FRANCE DMD 100
p.Tyr3072X	c.9216C>A	62	3072	CRD-hinge region #4		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3086 ---147-0-1 Male Hemizygous FRANCE DMD 1
	c.9316_9318delinsA	64	3106	CRD-hinge region #4		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2767 ---522-5-41 Male Hemizygous FRANCE DMD 106
p.Arg3113X	c.9337C>T	64	3113	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 695 ---229-0-1 Male Hemizygous ARGENTINA DMD 1 3013 ---242-0-1 Male Hemizygous - DMD 10
p.Gln3116X	c.9346C>T	64	3116	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2751 ---106-0-61 Male Hemizygous FRANCE DMD 112 2752 ---106-0-71 Male Hemizygous FRANCE DMD 112
p.Gln3135X	c.9403C>T	65	3135	Cystein-rich domain		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3027 ---319-0-1 Male Hemizygous FRANCE DMD 1 3058 ---319-2-1 Male Hemizygous FRANCE DMD 1 3251 ---319-1-1 Male Hemizygous FRANCE DMD 1
p.Gln3149X	c.9445C>T	65	3149	Cystein-rich domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1436 ---181-0-52 Female Heterozygous FRANCE DMD 100 1437 ---181-1-71 Male Hemizygous FRANCE DMD 100
p.Arg3190X	c.9568C>T	66	3190	Cystein-rich domain		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1438 ---103-6-31 Male Hemizygous FRANCE DMD 103 1439 ---093-6-01 Male Hemizygous FRANCE DMD 100 1505 ---029-1-61 Male Hemizygous FRANCE DMD 111 2286 ---176-9-MA1 Male Hemizygous FRANCE DMD 114 2287 ---176-1-MA1 Male Hemizygous FRANCE DMD 114 1702 ---151-1-1621 Male Hemizygous FRANCE DMD 116 1708 ---223-6-5501 Male Hemizygous FRANCE DMD 116 1709 ---223-6-4591 Male Hemizygous FRANCE DMD 120 1744 ---216-9-3671 Male Hemizygous FRANCE DMD 120 705 ---446-0-1 Male Hemizygous FRANCE DMD 10 858 ---494-0-1 Male Hemizygous FRANCE DMD 10 3247 ---919-0-1 Male Hemizygous FRANCE DMD 1 3370 ---220-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr3217X	c.9651C>A	66-67	3217	Cystein-rich domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3130 ---662-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Gln3231X	c.9691C>T	67	3231	Cystein-rich domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3025 ---624-0-1 Male Hemizygous - DMD 10
p.Cys3319Arg	c.9955T>C	68	3319	Carboxy-terminal region		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2376 ---235-8-m1 Male Hemizygous FRANCE Pending 114 3453 ---364-0-1 Male Hemizygous FRANCE DMD 1
p.Phe3332Cys	c.9995T>G	69	3332	Carboxy-terminal region		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2604 ---264-6-01 Male Hemizygous FRANCE DMD 106 2605 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Asp3335Tyr	c.10003G>T	69	3335	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1672 ---268-8-61 Male Hemizygous FRANCE DMD 106
p.Cys3340Arg	c.10018T>C	69	3340	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1607 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Arg3345X	c.10033C>T	69	3345	Carboxy-terminal region		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1758 ---219-4-3791 Male Hemizygous FRANCE DMD 120 652 ---289-0-1 Male Hemizygous FRANCE DMD 10
p.Asp3368His	c.10102G>C	70	3368	Carboxy-terminal region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 658 ---462-0-1 Male Hemizygous - BMD 10
p.Arg3370X	c.10108C>T	70	3370	Carboxy-terminal region		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1440 ---191-1-71 Male Hemizygous FRANCE DMD 100 2602 ---191-1-82 Female Heterozygous FRANCE Symptomatic carrier 106 2655 ---445-4-41 Male Hemizygous FRANCE DMD 106 657 ---346-0-1 Male Hemizygous FRANCE DMD 10 3155 ---045-1-1 Male Hemizygous FRANCE DMD 1 3204 ---895-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2419 ---045-0-1 Male Hemizygous FRANCE DMD 1
p.Lys3379X	c.10135A>T	70	3379	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3016 ---574-0-1 Male Hemizygous - DMD 10
p.Arg3381X	c.10141C>T	70	3381	Carboxy-terminal region		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1441 ---100-6-61 Male Hemizygous FRANCE DMD 105 2348 ---400-0-71 Male Hemizygous FRANCE DMD 106 2640 ---379-1-81 Male Hemizygous FRANCE DMD 106 2670 ---734-0-651 Male Hemizygous FRANCE DMD 116 1751 ---204-7-4531 Male Hemizygous FRANCE DMD 116 1755 ---204-7-3171 Male Hemizygous FRANCE DMD 119 3135 ---489-0-1 Male Hemizygous FRANCE DMD 1 3316 ---946-0-1 Male Hemizygous FRANCE DMD 1 3317 ---946-0-2 Female Heterozygous FRANCE Symptomatic carrier 1 2880 ---101-8-11 Male Hemizygous FRANCE DMD 1
p.Arg3391X	c.10171C>T	70	3391	Carboxy-terminal region		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1442 ---115-7-61 Male Hemizygous FRANCE DMD 100 1443 ---205-4-71 Male Hemizygous FRANCE DMD 100 1444 ---174-2-91 Male Hemizygous FRANCE DMD 100 2263 ---107-5-m1 Male Hemizygous FRANCE DMD 114 1698 ---233-5-4341 Male Hemizygous FRANCE DMD 120 653 ---095-0-1 Male Hemizygous - DMD 10 654 ---099-0-1 Male Hemizygous FRANCE DMD 10 655 ---099-1-1 Male Hemizygous FRANCE DMD 1 656 ---099-2-1 Male Hemizygous FRANCE DMD 1 2791 ---521-0-1 Male Hemizygous FRANCE DMD 10 2947 ---521-0-1 Male Hemizygous FRANCE DMD 10 3164 ---131-0-1 Male Hemizygous FRANCE DMD 1
p.Gln3427X	c.10279C>T	72	3427	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 680 ---429-0-1 Male Hemizygous - BMD 1
p.Tyr3454X	c.10362T>A	73	3454	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1770 ---662-0-1 Male Hemizygous - BMD 1
p.Glu3463X	c.10387G>T	73	3463	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2271 ---144-4-MA1 Male Hemizygous FRANCE Pending 114
p.Leu3471X	c.10412T>A	74	3471	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1580 ---193-1-71 Male Hemizygous FRANCE BMD 124
p.Tyr3524X	c.10572T>A	75	3524	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1670 ---245-4-21 Male Hemizygous FRANCE DMD 106
p.Gln3589X	c.10765C>T	75	3589	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1637 ---350-8-71 Male Hemizygous FRANCE Pending 106
p.Ser3637X	c.10910C>A	76	3637	Carboxy-terminal region		Small rearrangement	Tv	C->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2350 ---387-9-11 Male Hemizygous FRANCE BMD 106 2351 ---387-1-71 Male Hemizygous FRANCE BMD 106 1000 ---665-0-1 Male Hemizygous FRANCE DMD 1 1094 ---665-1-1 Male Hemizygous FRANCE DMD 1