The UMD-TREAT_DMD mutations database
194 patients with a substitution leading to a premature TAA codon

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Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln60X	c.178C>T	3	60	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 365 TNMD_BG#53 M BG 0
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 1958 TNMD_FR#F757533011 M FR 0
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 2104 TNMD_FR#F692050AM41 M FR 0 14388 TNMD_RU#3 M RU 0
p.Gln146X	c.436C>T	6	146	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11886 TNMD_JP#20100308-02 M JP 0
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 2124 TNMD_FR#F750660011 M FR 0
p.Tyr151X	c.453T>A	6	151	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9930 TNMD_HK#63 M HK 0
p.Tyr205X	c.615T>A	7	205	Actin binding domain		Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9120 TNMD_DE#C71ED4D3-2BCE-457 M DE 0 2172 TNMD_FR#F755518011 M FR 0
p.Tyr222X	c.666T>A	8	222	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14386 TNMD_RU#2 M RU 0
p.Ser234X	c.701C>A	8	234	Actin binding domain		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18611 TNMD_AU#234 M AU 0 18609 TNMD_AU#233 M AU 0
p.Gln237X	c.709C>T	8	237	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1075 TNMD_CH#86 M CH 0
p.Gln241X	c.721C>T	8	241			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15735 TNMD_UK#350 M UK 0 13894 TNMD_PL#PL/1998-10-25/DMD/253 M PL 0
p.Gln242X	c.724C>T	8	242			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13054 TNMD_JP#20130122-01 M JP 0 11244 TNMD_JP#20090824-02 M JP 0
p.Glu252X	c.754G>T	8	252			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15797 TNMD_UK#381 M UK 0
p.Glu264X	c.790G>T	8	264	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7157 TNMD_CN_HOSP#449 M CN 0
p.Gln276X	c.826C>T	8	276	CRD-hinge region #1		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17796 TNMD_CN_ORG#DMD_107 M CN 0 17634 TNMD_CN_ORG#DMD_34 M CN 0
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 2382 TNMD_FR#F3424313771 M FR 0
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 2494 TNMD_FR#F750583011 M FR 0
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 2500 TNMD_FR#F752802111 M FR 0 2498 TNMD_FR#F752802011 M FR 0
p.Tyr344X	c.1032T>A	10	344	CRD-repeat #1		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7087 TNMD_CN_HOSP#484 M CN 0
p.Gln345X	c.1033C>T	10	345	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8868 TNMD_DE#97BB1C3F-BE76-4D0 M DE 0
p.Glu350X	c.1048G>T	10	350	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16053 TNMD-US#527 M US 0
p.Gln363X	c.1087C>T	10	363	CRD-repeat #1		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 955 TNMD_CH#25 M CH 0 943 TNMD_CH#19 M CH 0 1245 TNMD_CH#171 M CH 0
p.Gln365X	c.1093C>T	10	365	CRD-repeat #1		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2502 TNMD_FR#F3416309651 M FR 0 12902 TNMD_JP#20120712-01 M JP 0
p.Glu373X	c.1117G>T	10	373	CRD-repeat #1		Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16133 TNMD-US#644 M US 0 12408 TNMD_JP#20110228-03 M JP 0 12406 TNMD_JP#20110228-02 M JP 0
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 2530 TNMD_FR#F757226011 M FR 0
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 2534 TNMD_FR#F6913700Z11 M FR 0
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 2536 TNMD_FR#F6907200G31 M FR 0
p.Ser429X	c.1286C>A	11	429	CRD-repeat #1		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17215 TNMD-US#2834 M US 0 15951 TNMD-US#349 M US 0
p.Glu476X	c.1426G>T	12	476	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8144 TNMD_DE#1583F8E5-04CD-4B9 M DE 0
p.Gln489X	c.1465C>T	12	489	CRD-repeat #2		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7455 TNMD_CN_HOSP#294 M CN 0 14100 TNMD_PL#PL/2010-09-06/DMD/276 M PL 0
p.Gln491X	c.1471C>T	12	491	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13555 NL#D287 M NL 0
p.Gln492X	c.1474C>T	12	492	CRD-repeat #2		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9002 TNMD_DE#AC03423A-8A95-4BB M AT 0 8996 TNMD_DE#ABB07CD2-34C4-497 M AT 0 13431 NL#D191 M NL 0 113 TREAT_NMD_AR#AHGD45 M AR 0
p.Gln497X	c.1489C>T	13	497	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10929 TNMD_IT#426 M IT 0
p.Gln502X	c.1504C>T	13	502	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12840 TNMD_JP#20120425-03 M JP 0
p.Gln504X	c.1510C>T	13	504	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11155 TNMD_IT#604 M IT 0
p.Glu531X	c.1591G>T	13	531	CRD-repeat #2		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8916 TNMD_DE#A2E6C6CF-A05C-4B4 M DE 0 8874 TNMD_DE#98619940-F267-465 M DE 0
p.Gln532X	c.1594C>T	13	532	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9850 TNMD_HK#14 M HK 0
p.Gln555X	c.1663C>T	14	555	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11834 TNMD_JP#20100212-04 M JP 0
p.Gln562X	c.1684C>T	14	562	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12638 TNMD_JP#20111003-01 M JP 0
p.Lys578X	c.1732A>T	15	578	CRD-repeat #3		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12228 TNMD_JP#20101015-02 M JP 0
p.Glu611X	c.1831G>T	16	611	CRD-repeat #3		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7215 TNMD_CN_HOSP#418 M CN 0
p.Gln615X	c.1843C>T	16	615	CRD-repeat #3		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9878 TNMD_HK#31 M HK 0 13231 NL#D030 M NL 0
p.Gln625X	c.1873C>T	16	625	CRD-repeat #3		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9936 TNMD_HK#68 M HK 0 782 TNMD_CA_DM#219 M CA 0 780 TNMD_CA_DM#218 M CA 0
p.Gln656X	c.1966C>T	16	656	CRD-repeat #3		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14414 TNMD_RU#17 M RU 0 13940 TNMD_PL#PL/2006-07-11/DMD/238 M PL 0 11424 TNMD_JP#20091015-04 M JP 0
p.Glu683X	c.2047G>T	17	683	CRD-hinge region #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13072 TNMD_JP#20130214-01 M JP 0
p.Glu692X	c.2074G>T	17	692	CRD-hinge region #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8282 TNMD_DE#2FE41878-A838-44F M DE 0
p.Gln709X	c.2125C>T	17	709	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18557 TNMD_AU#77 M AU 0
p.Leu759X	c.2276T>A	18	759	CRD-repeat #4		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1121 TNMD_CH#109 M CH 0
p.Glu761X	c.2281G>T	18	761	CRD-repeat #4		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2852 TNMD_FR#F3408305471 M FR 0 18394 TNMD_CZ_SK#MDB-4512 M CZ 0
p.Lys770X	c.2308A>T	19	770	CRD-repeat #4		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18595 TNMD_AU#97 M AU 0
p.Glu789X	c.2365G>T	19	789	CRD-repeat #4		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8536 TNMD_DE#610AFC39-B533-4F1 M DE 0 12404 TNMD_JP#20110228-01 M JP 0
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 2930 TNMD_FR#F758259011 M FR 0
p.Gln807X	c.2419C>T	20	807	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7509 TNMD_CN_HOSP#266 M CN 0
p.Glu814X	c.2440G>T	20	814	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 850 TNMD_CA_DM#268 M CA 0
p.Tyr828X	c.2484T>A	20	828	CRD-repeat #4		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16003 TNMD-US#429 M US 0
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 2936 TNMD_FR#F755738011 M FR 0
p.Lys891X	c.2671A>T	21	891	CRD-repeat #5		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8842 TNMD_DE#943CC907-48BA-4CD M DE 0
p.Gln920X	c.2758C>T	21	920	CRD-repeat #5		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9771 TNMD_GR#20 M GR 0 12826 TNMD_JP#20120417-02 M JP 0 12060 TNMD_JP#20100624-02 M JP 0 11496 TNMD_JP#20091102-04 M JP 0
p.Lys930X	c.2788A>T	21	930	CRD-repeat #5		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12824 TNMD_JP#20120417-01 M JP 0 10045 TNMD_HU#2754 M HU 0
p.Gln986X	c.2956C>T	23	986	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10865 TNMD_IT#376 M IT 0
p.Gln990X	c.2968C>T	23	990	CRD-repeat #6		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9924 TNMD_HK#60 M HK 0 8872 TNMD_DE#98448430-62EA-42A M DE 0 3044 TNMD_FR#F3426223411 M FR 0 11214 TNMD_JP#20090811-03 M JP 0
p.Gln992X	c.2974C>T	23	992	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18485 TNMD_AU#93 M AU 0
p.Lys1017X	c.3049A>T	23	1017	CRD-repeat #6		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8382 TNMD_DE#46D99C73-BBD9-49E M DE 0
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 3054 TNMD_FR#F3421113561 M FR 0
p.Gln1041X	c.3121C>T	23	1041	CRD-repeat #6		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17219 TNMD-US#3140 M US 0 12542 TNMD_JP#20110627-01 M JP 0
p.Gln1046X	c.3136C>T	23	1046	CRD-repeat #7		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9076 TNMD_DE#BC5C45EF-62B7-418 M DE 0 12976 TNMD_JP#20121001-02 M JP 0
p.Lys1062X	c.3184A>T	24	1062	CRD-repeat #7		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 949 TNMD_CH#22 M CH 0 15161 TNMD_UK#62 M UK 0
p.Glu1066X	c.3196G>T	24	1066	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17117 TNMD-US#2545 M US 0
p.Glu1074X	c.3220G>T	24	1074	CRD-repeat #7		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 367 TNMD_BG#54 M BG 0 10103 TNMD_HU#2774 M HU 0
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 3082 TNMD_FR#F3420011631 M FR 0
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 3084 TNMD_FR#F3415409461 M FR 0
p.Glu1186X	c.3556G>T	26	1186	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9870 TNMD_HK#26 M HK 0
p.Lys1188X	c.3562A>T	26	1188	CRD-repeat #8		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7717 TNMD_CN_HOSP#162 M CN 0 11622 TNMD_JP#20091127-01 M JP 0
p.Glu1205X	c.3613G>T	27	1205	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12300 TNMD_JP#20101130-02 M JP 0
p.Gln1208X	c.3622C>T	27	1208	CRD-repeat #8		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9737 TNMD_GR#3 M GR 0 13227 NL#D028 M NL 0
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 3210 TNMD_FR#F755209011 M FR 0
p.Glu1376X	c.4126G>T	30	1376	CRD-repeat #10		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12618 TNMD_JP#20110913-02 M JP 0 12616 TNMD_JP#20110913-01 M JP 0
p.Gln1438X	c.4312C>T	31	1438	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7447 TNMD_CN_HOSP#298 M CN 0
p.Gln1452X	c.4354C>T	32	1452	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7327 TNMD_CN_HOSP#359 M CN 0
p.Gln1472X	c.4414C>T	32	1472	CRD-repeat #11		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15883 TNMD-US#250 M US 0
p.Ser1500X	c.4499C>A	32	1500	CRD-repeat #11		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9928 TNMD_HK#62 M HK 0
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 3250 TNMD_FR#F758043011 M FR 0
p.Glu1514X	c.4540G>T	33	1514	CRD-repeat #11		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8506 TNMD_DE#5D23C84A-8E30-446 M DE 0
p.Glu1543X	c.4627G>T	33	1543	CRD-repeat #11		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16413 TNMD-US#1126 M US 0 1007 TNMD_CH#52 M CH 0
p.Gln1564X	c.4690C>T	34	1564	CRD-repeat #11		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9136 TNMD_DE#C985CFD0-1423-459 M DE 0 7691 TNMD_CN_HOSP#176 M CN 0
p.Lys1568X	c.4702A>T	34	1568	CRD-repeat #11		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10421 TNMD_IT#30 M IT 0
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 3264 TNMD_FR#F691500AC21 M FR 0 3262 TNMD_FR#F691500AC11 M FR 0
p.Glu1579X	c.4735G>T	34	1579	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16745 TNMD-US#1811 M US 0
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 3272 TNMD_FR#F3411607191 M FR 0
p.Gln1618X	c.4852C>T	35	1618	CRD-repeat #12		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3290 TNMD_FR#F69092384m1 M FR 0 15227 TNMD_UK#95 M UK 0 15225 TNMD_UK#94 M UK 0
p.Lys1652X	c.4954A>T	35	1652	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7517 TNMD_CN_HOSP#262 M CN 0 3302 TNMD_FR#F759435011 M FR 0
p.Glu1682X	c.5044G>T	36	1682	CRD-repeat #13		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13140 TNMD_JP#20130418-01 M JP 0
p.Glu1723X	c.5167G>T	37	1723	CRD-repeat #13		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13926 TNMD_PL#PL/2001-06-22/DMD/242 M PL 0
p.Gln1737X	c.5209C>T	37	1737	CRD-repeat #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10955 TNMD_IT#445 M IT 0
p.Glu1826X	c.5476G>T	39	1826	CRD-repeat #14		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8286 TNMD_DE#30542484-32BE-4BD M DE 0 10513 TNMD_IT#106 M IT 0
p.Gln1829X	c.5485C>T	39	1829	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8716 TNMD_DE#7F4968EC-5DE6-4A9 M DE 0
p.Gln1835X	c.5503C>T	39	1835	CRD-repeat #14		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15245 TNMD_UK#104 M UK 0 12240 TNMD_JP#20101027-02 M JP 0
p.Gln1867X	c.5599C>T	40	1867	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12244 TNMD_JP#20101029-01 M JP 0
p.Lys1870X	c.5608A>T	40	1870	CRD-repeat #14		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3400 TNMD_FR#F758237011 M FR 0 3396 TNMD_FR#F3447925391 M FR 0
p.Glu1874X	c.5620G>T	40	1874	CRD-repeat #14		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15253 TNMD_UK#108 M UK 0
p.Tyr1882X	c.5646C>A	40	1882	CRD-repeat #15		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9587 TNMD_ES_BCN#3 M ES 0
p.Glu1958X	c.5872G>T	41	1958	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9172 TNMD_DE#D1B3C7A5-5F68-45A M DE 0
p.Gln1973X	c.5917C>T	41	1973	CRD-repeat #15		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17485 TNMD-US#3905 M US 0 17421 TNMD-US#3752 M US 0
p.Gln2046X	c.6136C>T	43	2046	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11308 TNMD_JP#20090910-01 M JP 0
p.Gln2084X	c.6250C>T	43	2084	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 852 TNMD_CA_DM#269 M CA 0
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 3638 TNMD_FR#F754302011 M FR 0
p.Tyr2141X	c.6423C>A	44	2141	CRD-repeat #17		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9170 TNMD_DE#D195EA03-C400-435 M DE 0
p.Tyr2144X	c.6432T>A	44	2144	CRD-repeat #17		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13004 TNMD_JP#20121029-02 M JP 0
p.Glu2147X	c.6439G>T	45	2147	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18776 TNMD_NZ#121 M NZ 0
p.Glu2167X	c.6499G>T	45	2167	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13573 NL#D298 M NL 0
p.Glu2168X	c.6502G>T	45	2168	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9372 TNMD_DE#F6E410A5-CA2E-420 M DE 0
p.Lys2184X	c.6550A>T	45	2184	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7725 TNMD_CN_HOSP#157 M CN 0
p.Leu2220X	c.6659T>A	46	2220	CRD-repeat #18		Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9350 TNMD_DE#F060CAAB-CF5D-4C6 M DE 0 8432 TNMD_DE#4F3DDB2B-E2FA-4A9 M DE 0
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 5412 TNMD_FR#F752487011 M FR 0
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 5414 TNMD_FR#F751258011 M FR 0
p.Glu2317X	c.6949G>T	48	2317	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11362 TNMD_JP#20090925-03 M JP 0
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 6254 TNMD_FR#F751697011 M FR 0
p.Gln2491X	c.7471C>T	51	2491	CRD-repeat #20		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18625 TNMD_AU#210 M AU 0 16751 TNMD-US#1820 M US 0
p.Gln2544X	c.7630C>T	52	2544	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15801 TNMD_UK#383 M UK 0
p.Glu2566X	c.7696G>T	53	2566	CRD-repeat #20		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10701 TNMD_IT#255 M IT 0
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 6470 TNMD_FR#F3429716431 M FR 0
p.Glu2685X	c.8053G>T	55	2685	CRD-repeat #21		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12134 TNMD_JP#20100804-01 M JP 0 11808 TNMD_JP#20100205-03 M JP 0
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 6534 TNMD_FR#F3441322861 M FR 0
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 6538 TNMD_FR#F3414709031 M FR 0
p.Lys2732X	c.8194A>T	55	2732	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8100 TNMD_DE#0D558847-DC64-417 M AT 0
p.Gln2742X	c.8224C>T	56	2742	CRD-repeat #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9844 TNMD_HK#11 M HK 0
p.Glu2767X	c.8299G>T	56	2767	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13058 TNMD_JP#20130123-01 M JP 0
p.Glu2827X	c.8479G>T	57	2827	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12458 TNMD_JP#20110411-02 M JP 0
p.Glu2854X	c.8560G>T	58	2854	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11542 TNMD_JP#20091111-03 M JP 0
p.Gln2940X	c.8818C>T	59	2940	CRD-repeat #24		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7343 TNMD_CN_HOSP#351 M CN 0
p.Gln2972X	c.8914C>T	59	2972	CRD-repeat #24		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6632 TNMD_FR#F3408906051 M FR 0
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 6708 TNMD_FR#F751478011 M FR 0
p.Gln3079X	c.9235C>T	63	3079	CRD-hinge region #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8478 TNMD_DE#57725919-F082-4C3 M DE 0
p.Tyr3092X	c.9276C>A	63	3092	CRD-hinge region #4		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 648 TNMD_CA_DM#126 M CA 0
p.Gln3221X	c.9661C>T	67	3221	Cystein-rich domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 646 TNMD_CA_DM#125 M CA 0
p.Glu3250X	c.9748G>T	67	3250	Cystein-rich domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 935 TNMD_CH#15 M CH 0
p.Glu3358X	c.10072G>T	69	3358	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 210 TNMD_BE_AR#6 M BE 0
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 6916 TNMD_FR#F755740011 M FR 0
p.Lys3383X	c.10147A>T	70	3383	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 181 TREAT_NMD_AR#AHGD103 M AR 0
p.Tyr3440X	c.10320T>A	72	3440	Carboxy-terminal region		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11344 TNMD_JP#20090918-03 M JP 0
p.Tyr3475X	c.10425C>A	74	3475	Carboxy-terminal region		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7089 TNMD_CN_HOSP#483 M CN 0
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 7028 TNMD_FR#F3424514521 M FR 0