The UMD-DMD France mutations database
Small deletions (147 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys18ArgfsX8	c.53delA	2	18	Actin binding domain		Small rearrangement	Fr.	Stop at 25	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2662 ---512-5-21 Male Hemizygous FRANCE BMD 106
p.Glu65LysfsX10	c.193delG	4	65	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 671 ---081-0-1 Male Hemizygous - BMD 1
p.Gly67AspfsX8	c.198delA	4	66	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2382 ---302-6-11 Male Hemizygous FRANCE DMD 106
p.Met124IlefsX18	c.372delG	6	124	Actin binding domain		Small rearrangement	Fr.	Stop at 141	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1091 ---033-0-1 Male Hemizygous - DMD 10
p.Ile127HisfsX10	c.379_380delAT	6	127	Actin binding domain		Small rearrangement	Fr.	Stop at 136	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3005 ---743-0-1 Male Hemizygous - BMD 1 3006 ---743-1-1 Male Hemizygous - BMD 1
p.Phe159HisfsX6	c.475_476delTT	6	159	Actin binding domain		Small rearrangement	Fr.	Stop at 164	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1362 ---745-0-1 Male Hemizygous GERMANY DMD 10
p.Thr161_Thr161del	c.482_484delCCA	6	161	Actin binding domain		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3007 ---714-0-1 Male Hemizygous FRANCE BMD 1
p.Lys226del	c.676_678delAAG	8	226	Actin binding domain		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1363 ---746-0-1 Male Hemizygous - BMD 1 2108 ---937-0-1 Male Hemizygous SPAIN BMD 1
p.Met230SerfsX14	c.689delT	8	230	Actin binding domain		Small rearrangement	Fr.	Stop at 243	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3004 ---701-0-1 Male Hemizygous - DMD 10
p.Glu373ThrfsX10	c.1117_1129del	10	373	CRD-repeat #1		Small rearrangement	Fr.	Stop at 382	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2654 ---456-2-51 Male Hemizygous FRANCE DMD 106
p.Leu412TyrfsX13	c.1235delT	11	412	CRD-repeat #1		Small rearrangement	Fr.	Stop at 424	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3137 ---762-0-1 Male Hemizygous FRANCE DMD 1
p.Asn542ThrfsX41	c.1625delA	14	542	CRD-repeat #2		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3138 ---401-0-1 Male Hemizygous FRANCE DMD 1
p.Gln562AsnfsX21	c.1684delC	14	562	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2025 ---315-7-01 Male Hemizygous FRANCE DMD 106
p.Phe571LeufsX12	c.1713delT	15	571	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3116 ---768-0-1 Male Hemizygous FRANCE DMD 1 3450 ---768-1-1 Male Hemizygous FRANCE DMD 1
p.Ser576GlnfsX7	c.1726delT	15	576	CRD-repeat #3		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 708 ---250-0-1 Male Hemizygous - DMD 10
p.Thr588LeufsX19	c.1762delA	15	588	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1479 ---289-6-61 Male Hemizygous FRANCE DMD 106
p.Lys591CysfsX11	c.1771_1786del	15	591	CRD-repeat #3		Small rearrangement	Fr.	Stop at 601	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3517 ---981-0-1 Male Hemizygous FRANCE DMD 1
p.Lys602AsnfsX5	c.1806delA	15	602	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2659 ---499-4-51 Male Hemizygous FRANCE Pending 106
p.Val605PhefsX2	c.1812delC	15	604	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1445 ---190-1-81 Male Hemizygous FRANCE DMD 100
p.Gly618GlnfsX16	c.1852_1853delGG	16	618	CRD-repeat #3		Small rearrangement	Fr.	Stop at 633	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3092 ---769-0-1 Male Hemizygous FRANCE DMD 1
p.Tyr621PhefsX13	c.1860_1861delGT	16	620	CRD-repeat #3		Small rearrangement	Fr.	Stop at 633	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1736 ---245-1-4651 Male Hemizygous FRANCE DMD 116
p.Lys660GlufsX59	c.1978_1979delAA	16	660	CRD-repeat #3		Small rearrangement	Fr.	Stop at 718	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2623 ---433-3-61 Male Hemizygous FRANCE DMD 106 989 ---841-0-1 Male Hemizygous - Pending 1
p.Gln673AsnfsX43	c.2017_2027del	17	673	CRD-hinge region #2		Small rearrangement	Fr.	Stop at 715	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3146 ---089-0-1 Male Hemizygous FRANCE DMD 1
p.Arg737ProfsX23	c.2210delG	18	737	CRD-repeat #4		Small rearrangement	Fr.	Stop at 759	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2267 ---125-7-m1 Male Hemizygous FRANCE DMD 114
p.Pro745X	c.2230_2231delAG	18	744	CRD-repeat #4		Small rearrangement	Fr.	Stop at 745	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1447 ---027-1-41 Male Hemizygous FRANCE DMD 102
p.Phe756LeufsX6	c.2268_2299del	18	756	CRD-repeat #4		Small rearrangement	Fr.	Stop at 761	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3337 ---582-0-1 Male Hemizygous FRANCE DMD 1
p.Glu761LysfsX5	c.2281_2284delGAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 688 ---103-0-1 Male Hemizygous FRANCE DMD 10
p.Glu761SerfsX10	c.2281_2285delGAAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 770	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3114 ---727-0-1 Male Hemizygous - DMD 1
p.Arg782SerfsX8	c.2346_2359del	19	782	CRD-repeat #4		Small rearrangement	Fr.	Stop at 789	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2310 ---887-0-1 Male Hemizygous ARGENTINA BMD 1 3353 ---887-1-1 Male Hemizygous ARGENTINA BMD 1
p.Ser820ArgfsX25	c.2457_2460delAAGT	20	819	CRD-repeat #4		Small rearrangement	Fr.	Stop at 844	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1671 ---367-8-21 Male Hemizygous FRANCE DMD 106
p.Lys854AsnfsX13	c.2559_2560delGA	20	853	CRD-repeat #5		Small rearrangement	Fr.	Stop at 866	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3245 ---922-0-1 Male Hemizygous SPAIN DMD 1
p.Leu880TyrfsX11	c.2638delC	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 890	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 ---361-0-1 Male Hemizygous - DMD 10
p.Gly903AspfsX46	c.2706delA	21	902	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2701 ---075-d-281 Male Hemizygous FRANCE DMD 113 1610 ---283-5-81 Male Hemizygous FRANCE DMD 106
p.Val921SerfsX28	c.2761delG	21	921	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3132 ---874-0-2 Female Heterozygous - Symptomatic carrier 1 3133 ---874-0-1 Male Hemizygous - DMD 1
p.Leu939AlafsX29	c.2815_2816delTT	22	939	CRD-repeat #6		Small rearrangement	Fr.	Stop at 967	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1636 ---329-7-91 Male Hemizygous FRANCE DMD 106
p.Lys1004ArgfsX9	c.3011_3012delAA	23	1004	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1012	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3270 ---926-0-1 Male Hemizygous FRANCE BMD 1
p.Ser1012LeufsX32	c.3033delC	23	1011	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1043	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 968 ---572-0-1 Male Hemizygous - DMD 10
p.Ile1053PhefsX8	c.3157delA	23	1053	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1060	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2386 ---325-7-01 Male Hemizygous BELGIUM DMD 106
p.Lys1086SerfsX3	c.3257delA	24	1086	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1088	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 957 ---049-0-1 Male Hemizygous - DMD 10
p.Lys1116MetfsX36	c.3347_3350delAGAA	25	1116	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1151	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2669 ---068-0-01 Male Hemizygous FRANCE DMD 110
p.Val1160LysfsX17	c.3478_3479delGT	26	1160	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1176	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1448 ---152-9-31 Male Hemizygous FRANCE DMD 105
p.Ser1167X	c.3500_3501delCA	26	1167	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1167	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1480 ---291-6-91 Male Hemizygous FRANCE Pending 106
p.Asp1184ValfsX2	c.3551_3552delAT	26	1184	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1185	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2846 ---250-0-1 Male Hemizygous FRANCE DMD 1
p.Lys1257AsnfsX26	c.3768delG	27	1256	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1282	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2306 ---231-7-A1 Male Hemizygous FRANCE DMD 114 2307 ---231-8-A1 Male Hemizygous FRANCE DMD 114
p.Cys1258AspfsX11	c.3772_3776delTGCAA	27	1258	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1268	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3385 ---461-0-1 Male Hemizygous FRANCE DMD 1
p.Asn1283LysfsX3	c.3849delT	28	1283	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1285	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3486 ---108-0-1 Male Hemizygous FRANCE DMD 1 3487 ---108-1-1 Male Hemizygous FRANCE DMD 1
p.Lys1288AsnfsX19	c.3864delA	28	1288	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1306	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1449 ---214-2-21 Male Hemizygous FRANCE DMD 100
p.Ser1316X	c.3947_3948delCA	29	1316	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1316	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2370 ---096-2-m1 Male Hemizygous FRANCE DMD 114
p.Glu1376TyrfsX3	c.4126_4135del	30	1376	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1378	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2601 ---139-5-01 Male Hemizygous FRANCE DMD 106
p.Ile1444MetfsX12	c.4332_4335delTGAT	31	1444	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1455	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3069 ---770-0-1 Male Hemizygous - DMD 1
p.Ser1513LysfsX2	c.4538_4541delGTGA	33	1513	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1514	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3107 ---063-0-1 Male Hemizygous - DMD 1 3508 ---240-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Leu1548X	c.4643delT	33	1548	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1548	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2303 ---223-6-m1 Male Hemizygous FRANCE DMD 114
p.Val1559X	c.4675delG	34	1559	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1559	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3467 ---915-0-1 Male Hemizygous FRANCE DMD 1
p.Gly1614GlufsX15	c.4841delG	34	1614	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1450 ---221-4-81 Male Hemizygous FRANCE DMD 100
p.Glu1620ArgfsX9	c.4857delA	35	1619	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1451 ---220-3-91 Male Hemizygous FRANCE DMD 105
p.Glu1633GlyfsX19	c.4898_4899delAG	35	1633	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1651	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1452 ---215-2-01 Male Hemizygous FRANCE DMD 100
p.Thr1640GlnfsX17	c.4918delA	35	1640	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1656	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1453 ---122-8-71 Male Hemizygous FRANCE Pending 100
p.Trp1660X	c.4980delG	35	1660	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1660	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 678 ---376-0-1 Male Hemizygous - DMD 10
p.Glu1714LysfsX7	c.5139delA	36	1713	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1454 ---258-4-41 Male Hemizygous FRANCE DMD 100
p.Glu1714LysfsX7	c.5140delG	36	1714	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2246 ---116-7-A1 Male Hemizygous FRANCE DMD 114
p.Ile1757SerfsX24	c.5269delA	37	1757	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1780	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3119 ---125-0-1 Male Hemizygous - DMD 1 3158 ---125-1-1 Male Hemizygous - DMD 1 3159 ---125-2-1 Male Hemizygous - DMD 1
p.Ser1758ArgfsX14	c.5272_5273delTC	37	1758	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1771	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3022 ---147-0-1 Male Hemizygous - DMD 10
p.Val1805X	c.5413delG	38	1805	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2247 ---052-A-61 Male Hemizygous FRANCE DMD 114
p.Gly1831ArgfsX10	c.5487_5488delAA	39	1829	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1840	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3160 ---076-0-1 Male Hemizygous FRANCE DMD 1
p.Gln1851SerfsX14	c.5551delC	39	1851	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1864	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1455 ---134-8-21 Male Hemizygous FRANCE DMD 105
p.Gln1855AspfsX4	c.5563_5564delCA	39	1855	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1858	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3077 ---578-0-1 Male Hemizygous - IMD 1 3078 ---578-0-2 Female Heterozygous - Pending 1
p.Thr1856AsnfsX8	c.5565_5568delGACA	39	1855	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1456 ---234-3-41 Male Hemizygous FRANCE DMD 100
p.Arg1868GlufsX5	c.5602_5605delAGAA	40	1868	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1872	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3136 ---015-0-1 Male Hemizygous - DMD 1 3152 ---048-0-1 Male Hemizygous FRANCE DMD 1 3212 ---554-0-1 Male Hemizygous - DMD 10
p.Lys1899AsnfsX2	c.5697delA	40	1899	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1900	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2289 ---181-3-m1 Male Hemizygous FRANCE DMD 114
p.Lys1923GlyfsX7	c.5766_5770delGAAAG	41	1922	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 ---074-0-1 Male Hemizygous - DMD 10
p.Lys1923ArgfsX3	c.5768_5771delAAGA	41	1923	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1925	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2918 ---937-0-1 Male Hemizygous SPAIN DMD 1
p.Thr1986ArgfsX17	c.5957_5958delCT	42	1986	CRD		Small rearrangement	Fr.	Stop at 2002	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2242 ---039-7-m1 Male Hemizygous FRANCE DMD 114
p.Pro1990LeufsX12	c.5969delC	42	1990	CRD		Small rearrangement	Fr.	Stop at 2001	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3060 ---812-0-1 Male Hemizygous FRANCE DMD 1 3558 ---812-1-1 Male Hemizygous FRANCE DMD 1
p.Gly2241GlufsX6	c.6720delT	46	2240	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2246	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 962 ---544-0-1 Male Hemizygous - DMD 10
p.Gly2265GlufsX6	c.6794delG	47	2265	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2274 ---147-0-m1 Male Hemizygous FRANCE DMD 114
p.Lys2268AsnfsX2	c.6804_6807delACAA	47	2268	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2269	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3156 ---079-0-1 Male Hemizygous - DMD 1
p.Gln2269AsnfsX2	c.6805delC	47	2269	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3088 ---834-0-1 Male Hemizygous - DMD 1
p.Leu2416TyrfsX5	c.7247delT	50	2416	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2420	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3017 ---066-0-1 Male Hemizygous - DMD 10
p.Leu2465X	c.7392delC	51	2464	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2465	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3073 ---831-0-1 Male Hemizygous - DMD 1
p.Asp2484ThrfsX10	c.7449delC	51	2483	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2493	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3110 ---851-0-1 Male Hemizygous FRANCE DMD 1
p.Ile2557PhefsX19	c.7669delA	53	2557	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2575	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 ---120-0-1 Male Hemizygous - DMD 10 3250 ---120-1-1 Male Hemizygous FRANCE DMD 1
p.Lys2580ArgfsX17	c.7739delA	53	2580	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2811 ---756-0-1 Male Hemizygous FRANCE DMD 10 2967 ---756-0-1 Male Hemizygous FRANCE DMD 10
p.Glu2590LysfsX6	c.7768_7771delGAAG	53	2590	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2595	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 648 ---139-0-1 Male Hemizygous FRANCE DMD 10
p.Tyr2611LeufsX3	c.7832delA	53	2611	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2613	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3163 ---712-0-1 Male Hemizygous FRANCE DMD 1
p.Gln2625SerfsX13	c.7873delC	54	2625	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2637	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3021 ---143-0-1 Male Hemizygous - DMD 1 3023 ---143-1-1 Male Hemizygous - DMD 1 3024 ---143-0-2 Female Heterozygous - Pending 1
p.Glu2686LysfsX40	c.8055delA	55	2685	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3547 ---137-0-1 Male Hemizygous FRANCE DMD 1
p.Leu2696ArgfsX30	c.8087delT	55	2696	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2453 ---404-0-91 Male Hemizygous FRANCE DMD 106
p.Lys2792ValfsX5	c.8374_8375delAA	56	2792	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2796	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2265 ---120-2-MA1 Male Hemizygous FRANCE DMD 114
p.His2799GlnfsX3	c.8392_8402del	57	2798	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2801	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1464 ---270-5-91 Male Hemizygous FRANCE DMD 100
p.Val2869ThrfsX25	c.8605_8606delGT	58	2869	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2893	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2283 ---167-6-m1 Male Hemizygous FRANCE DMD 114
p.Asn2919ThrfsX11	c.8754delG	59	2918	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1462 ---102-6-01 Male Hemizygous FRANCE DMD 100
p.Leu2936ProfsX9	c.8807_8808delTC	59	2936	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2944	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1463 ---235-3-31 Male Hemizygous FRANCE DMD 103
p.Lys2949SerfsX7	c.8844delC	59	2948	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2955	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3461 ---046-0-1 Male Hemizygous FRANCE DMD 1 3462 ---046-1-01 Male Hemizygous FRANCE DMD 1 3463 ---046-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Asp2969ThrfsX20	c.8905delG	59	2969	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2988	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2240 ---034-5-m1 Male Hemizygous FRANCE DMD 114 2241 ---034-5-m1 Male Hemizygous FRANCE DMD 114
p.His2974ThrfsX15	c.8920delC	59	2974	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2988	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3065 ---827-0-1 Male Hemizygous FRANCE DMD 1
p.Ser3054ProfsX35	c.9160delT	61	3054	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3088	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2336 ---112-4-1091 Male Hemizygous FRANCE DMD 116
p.Asn3068LysfsX20	c.9204_9207delCAAA	62	3068	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3087	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3059 ---159-0-1 Male Hemizygous - DMD 1 3066 ---068-0-1 Male Hemizygous - DMD 1 3111 ---853-0-1 Male Hemizygous ITALIA DMD 1
p.Met3110GlufsX12	c.9328_9337del	64	3110	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3121	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3106 ---806-0-1 Male Hemizygous - DMD 1
p.Lys3111AsnfsX14	c.9333delA	64	3111	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3124	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2299 ---209-6-m1 Male Hemizygous FRANCE DMD 114
p.Cys3153X	c.9459_9462delTTTG	65	3153	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3153	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2296 ---196-9-A1 Male Hemizygous FRANCE Pending 114
p.Val3222TrpfsX61	c.9663delA	67	3221	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1727 ---748-0-1 Male Hemizygous FRANCE DMD 10
p.Ser3225GlnfsX58	c.9673delT	67	3225	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3282	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1784 ---C13-0-7111 Male Hemizygous FRANCE DMD 116
p.Ser3262CysfsX9	c.9783_9784delAA	67	3261	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1715 ---278-2-5361 Male Hemizygous FRANCE DMD 116
p.Pro3296LeufsX27	c.9887_9908del	68	3296	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3322	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3414 ---954-0-1 Male Hemizygous FRANCE DMD 1 3415 ---954-0-2 Female Heterozygous FRANCE Symptomatic carrier 1
p.Pro3320GlnfsX10	c.9959delC	68	3320	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3329	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1737 ---275-4-5211 Male Hemizygous FRANCE DMD 116 1738 ---275-4-5491 Male Hemizygous FRANCE DMD 116
p.Ser3343LeufsX34	c.10027delT	69	3343	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2332 ---C20-8-7311 Male Hemizygous FRANCE DMD 116
p.Leu3376X	c.10126delC	70	3376	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1460 ---085-5-21 Male Hemizygous FRANCE DMD 101 2598 ---085-2-12 Female Heterozygous FRANCE Symptomatic carrier 106 3009 ---691-0-1 Male Hemizygous - DMD 10
p.Glu3402ArgfsX11	c.10203delA	70	3401	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1461 ---274-5-61 Male Hemizygous FRANCE Pending 100
p.Pro3409TyrfsX22	c.10225_10229delCCCGT	71	3409	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3430	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3014 ---193-0-1 Male Hemizygous FRANCE BMD 1 3377 ---193-1-1 Male Hemizygous FRANCE BMD 1 3378 ---193-2-1 Male Hemizygous FRANCE BMD 1
p.Leu3485X	c.10453delC	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3485	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2264 ---112-A-11 Male Hemizygous FRANCE Pending 114
p.Leu3485GlufsX5	c.10453_10454delCT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3489	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3417 ---085-0-1 Male Hemizygous FRANCE DMD 1
p.Leu3485ArgfsX11	c.10454delT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3495	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3388 ---961-0-1 Male Hemizygous FRANCE DMD 1
p.Ser3500X	c.10498_10499delAG	74	3500	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3500	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2266 ---124-0-21 Male Hemizygous FRANCE BMD 114 1399 ---103-0-1 Male Hemizygous - BMD 1
p.Arg3575GlyfsX19	c.10722delC	75	3574	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3593	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 ---285-0-1 Male Hemizygous FRANCE DMD 10 2871 ---285-1-1 Male Hemizygous FRANCE DMD 1