The UMD-TREAT_DMD mutations database
215 patients with a substitution leading to a premature TAG codon

    Request ID: -

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln45X	c.133C>T	3	45	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15081 TNMD_UK#22 M UK 0
p.Gln85X	c.253C>T	4	85	Actin binding domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1964 TNMD_FR#F755915011 M FR 0
p.Trp143X	c.428G>A	6	143	Actin binding domain		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12296 TNMD_JP#20101129-04 M JP 0
p.Tyr151X	c.453T>G	6	151	Actin binding domain		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7235 TNMD_CN_HOSP#407 M CN 0
p.Gln153X	c.457C>T	6	153	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8596 TNMD_DE#6B08E49B-1E83-46C M DE 0 16967 TNMD-US#2277 M US 0
p.Gln189X	c.565C>T	7	189	Actin binding domain		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9116 TNMD_DE#C6B73CA3-06A3-459 M DE 0 8586 TNMD_DE#68F690DB-9744-448 M DE 0 7083 TNMD_CN_HOSP#486 M CN 0 2160 TNMD_FR#F756262011 M FR 0
p.Gln190X	c.568C>T	7	190	Actin binding domain		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2162 TNMD_FR#F758186011 M FR 0 10839 TNMD_IT#360 M IT 0
p.Gln249X	c.745C>T	8	249			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2368 TNMD_FR#F691420DU11 M FR 0 10051 TNMD_HU#2694 M HU 0
p.Gln277X	c.829C>T	8	277	CRD-hinge region #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7551 TNMD_CN_HOSP#247 M CN 0
p.Tyr299X	c.897T>G	9	299	CRD-hinge region #1		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13619 NL#D330 M NL 0
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 2492 TNMD_FR#F750882012 M FR 0
p.Trp354X	c.1061G>A	10	354	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15840 TNMD_FI#FIN20 M FI 0 11328 TNMD_JP#20090915-01 M JP 0
p.Gln378X	c.1132C>T	10	378	CRD-repeat #1		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18846 TNMD_NZ#300 M NZ 0
p.Trp431X	c.1292G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 TNMD_CA_DM#116 M CA 0 2542 TNMD_FR#F755059011 M FR 0
p.Gln453X	c.1357C>T	12	453	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12872 TNMD_JP#20120621-01 M JP 0
p.Gln455X	c.1363C>T	12	455	CRD-repeat #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10023 TNMD_HU#2764 M HU 0
p.Glu459X	c.1375G>T	12	459	CRD-repeat #2		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9826 TNMD_HK#1 M HK 0 8032 TNMD_DE#038BAF78-85E4-470 M DE 0
p.Trp463X	c.1388G>A	12	463	CRD-repeat #2		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2604 TNMD_FR#F3418912571 M FR 0 1 TREAT_NMD_AR#AHGD78 M AR 0
p.Glu475X	c.1423G>T	12	475	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8516 TNMD_DE#5EB7A8C6-23AC-49C M DE 0
p.Trp551X	c.1652G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11326 TNMD_JP#20090914-07 M JP 0 11049 TNMD_IT#511 M IT 0
p.Gln568X	c.1702C>T	14	568	CRD-repeat #3		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7313 TNMD_CN_HOSP#366 M CN 0 15091 TNMD_UK#27 M UK 0
p.Gln638X	c.1912C>T	16	638	CRD-repeat #3		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17355 TNMD-US#3601 M US 0
p.Trp643X	c.1928G>A	16	643	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9132 TNMD_DE#C8BF22CB-39A8-425 M DE 0
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 2748 TNMD_FR#F758004011 M FR 0
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 2782 TNMD_FR#F752723011 M FR 0
p.Gln673X	c.2017C>T	17	673	CRD-hinge region #2		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2784 TNMD_FR#F378227408081 M FR 0 12936 TNMD_JP#20120823-01 M JP 0
p.Gln678X	c.2032C>T	17	678	CRD-hinge region #2		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12022 TNMD_JP#20100528-01 M JP 0
p.Gln693X	c.2077C>T	17	693	CRD-hinge region #2		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12628 TNMD_JP#20110920-03 M JP 0 12580 TNMD_JP#20110812-01 M JP 0
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 2790 TNMD_FR#F759213011 M FR 0
p.Gln743X	c.2227C>T	18	743	CRD-repeat #4		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2844 TNMD_FR#F751045011 M FR 0 2842 TNMD_FR#F69077707m1 M FR 0
p.Glu767X	c.2299G>T	19	767	CRD-repeat #4		Small rearrangement	Tv	G->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17313 TNMD-US#3486 M US 0 16933 TNMD-US#2205 M US 0 16231 TNMD-US#824 M US 0 15127 TNMD_UK#45 M UK 0
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 2894 TNMD_FR#F3451125211 M FR 0
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 2904 TNMD_FR#F691300EW21 M FR 0
p.Trp812X	c.2435G>A	20	812	CRD-repeat #4		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8920 TNMD_DE#A3256D9E-DC9B-4F5 M DE 0 18555 TNMD_AU#226 M AU 0 13038 TNMD_JP#20121226-01 M JP 0
p.Gln817X	c.2449C>T	20	817	CRD-repeat #4		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18778 TNMD_NZ#149 M NZ 0
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 2938 TNMD_FR#F758361011 M FR 0
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 2940 TNMD_FR#F3423914111 M FR 0
p.Glu862X	c.2584G>T	20	862	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12926 TNMD_JP#20120821-01 M JP 0
p.Gln869X	c.2605C>T	20	869	CRD-repeat #5		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7185 TNMD_CN_HOSP#433 M CN 0 13429 NL#D190 M NL 0
p.Lys919X	c.2755A>T	21	919	CRD-repeat #5		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9803 TNMD_GR#36 M GR 0
p.Glu931X	c.2791G>T	21	931	CRD-repeat #5		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17011 TNMD-US#2342 M US 0 10617 TNMD_IT#185 M IT 0
p.Gln933X	c.2797C>T	21	933	CRD-repeat #5		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11634 TNMD_JP#20091202-01 M JP 0 10727 TNMD_IT#273 M IT 0
p.Tyr944X	c.2832T>G	22	944	CRD-repeat #6		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7727 TNMD_CN_HOSP#156 M CN 0 17616 TNMD_CN_ORG#DMD_25 M CN 0
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 3026 TNMD_FR#F3430917021 M FR 0
p.Glu946X	c.2836G>T	22	946	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13433 NL#D194 M NL 0
p.Gln956X	c.2866C>T	22	956	CRD-repeat #6		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7663 TNMD_CN_HOSP#190 M CN 0 17529 TNMD-US#4010 M US 0 16507 TNMD-US#1293 M US 0 14406 TNMD_RU#13 M RU 0
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 3030 TNMD_FR#F3442421391 M FR 0 3028 TNMD_FR#F69192283m1 M FR 0
p.Gln977X	c.2929C>T	22	977	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9743 TNMD_GR#6 M GR 0
p.Gln983X	c.2947C>T	22	983	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10611 TNMD_IT#175 M IT 0
p.Tyr997X	c.2991C>G	23	997	CRD-repeat #6		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8316 TNMD_DE#3849DC8D-5317-468 M DE 0 3048 TNMD_FR#F69080064m1 M FR 0 3046 TNMD_FR#F69080062m1 M FR 0
p.Glu1005X	c.3013G>T	23	1005	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11320 TNMD_JP#20090914-04 M JP 0
p.Glu1026X	c.3076G>T	23	1026	CRD-repeat #6		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3056 TNMD_FR#F757563011 M FR 0 16757 TNMD-US#1828 M US 0
p.Gln1035X	c.3103C>T	23	1035	CRD-repeat #6		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18525 TNMD_AU#252 M AU 0
p.Lys1042X	c.3124A>T	23	1042	CRD-repeat #6		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17367 TNMD-US#3632 M US 0
p.Trp1063X	c.3188G>A	24	1063	CRD-repeat #7		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16031 TNMD-US#473 M US 0 15163 TNMD_UK#63 M UK 0
p.Gln1087X	c.3259C>T	24	1087	CRD-repeat #7		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16243 TNMD-US#859 M US 0
p.Gln1102X	c.3304C>T	25	1102	CRD-repeat #7		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15183 TNMD_UK#73 M UK 0
p.Glu1150X	c.3448G>T	26	1150	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11734 TNMD_JP#20100108-03 M JP 0
p.Glu1157X	c.3469G>T	26	1157	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14129 TNMD_PT#15 M PT 0
p.Glu1179X	c.3535G>T	26	1179	CRD-repeat #8		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3112 TNMD_FR#F751131011 M FR 0 3108 TNMD_FR#F3444222371 M FR 0
p.Gln1194X	c.3580C>T	26	1194	CRD-repeat #8		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7607 TNMD_CN_HOSP#219 M CN 0 3122 TNMD_FR#F759164011 M FR 0 3120 TNMD_FR#F691460AV11 M FR 0
p.Gln1248X	c.3742C>T	27	1248	CRD-repeat #8		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 232 TNMD_BE_AR#18 M BE 0
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 3152 TNMD_FR#F3431717221 M FR 0
p.Gln1367X	c.4099C>T	30	1367	CRD-repeat #9		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9876 TNMD_HK#30 M HK 0 35 TREAT_NMD_AR#AHGD46 M AR 0 10787 TNMD_IT#318 M IT 0
p.Gln1370X	c.4108C>T	30	1370	CRD-repeat #10		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3212 TNMD_FR#F3422313271 M FR 0 13213 NL#D020 M NL 0
p.Gln1373X	c.4117C>T	30	1373	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10711 TNMD_IT#261 M IT 0
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 3216 TNMD_FR#F3438019241 M FR 0
p.Lys1400X	c.4198A>T	30	1400	CRD-repeat #10		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9811 TNMD_GR#40 M GR 0
p.Gln1411X	c.4231C>T	30	1411	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7365 TNMD_CN_HOSP#340 M CN 0
p.Gln1462X	c.4384C>T	32	1462	CRD-repeat #10		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11336 TNMD_JP#20090917-02 M JP 0
p.Gln1495X	c.4483C>T	32	1495	CRD-repeat #11		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8928 TNMD_DE#A3A0EC5C-998B-447 M DE 0 16033 TNMD-US#479 M US 0
p.Gln1499X	c.4495C>T	32	1499	CRD-repeat #11		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15215 TNMD_UK#89 M UK 0 12934 TNMD_JP#20120822-02 M JP 0
p.Gln1501X	c.4501C>T	32	1501	CRD-repeat #11		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17413 TNMD-US#3739 M US 0 15217 TNMD_UK#90 M UK 0 12306 TNMD_JP#20101207-01 M JP 0
p.Lys1524X	c.4570A>T	33	1524	CRD-repeat #11		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9856 TNMD_HK#18 M HK 0
p.Gln1531X	c.4591C>T	33	1531	CRD-repeat #11		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9142 TNMD_DE#CB22C575-1AAA-4BE M DE 0 8476 TNMD_DE#576DBE48-9F9E-4F0 M DE 0
p.Gln1534X	c.4600C>T	33	1534	CRD-repeat #11		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12770 TNMD_JP#20120305-03 M JP 0 12768 TNMD_JP#20120305-02 M JP 0 10735 TNMD_IT#277 M IT 0
p.Gln1565X	c.4693C>T	34	1565	CRD-repeat #11		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7271 TNMD_CN_HOSP#389 M CN 0
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 3266 TNMD_FR#F759637011 M FR 0
p.Lys1615X	c.4843A>T	34	1615	CRD-repeat #12		Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17341 TNMD-US#3572 M US 0 17159 TNMD-US#2632 M US 0 17027 TNMD-US#2372 M US 0
p.Gln1624X	c.4870C>T	35	1624	CRD-repeat #12		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3294 TNMD_FR#F691490BE21 M FR 0 11570 TNMD_JP#20091117-01 M JP 0
p.Leu1674X	c.5021T>A	35	1674	CRD-repeat #12		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13561 NL#D290 M NL 0
p.Gln1697X	c.5089C>T	36	1697	CRD-repeat #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11137 TNMD_IT#583 M IT 0
p.Gln1711X	c.5131C>T	36	1711	CRD-repeat #13		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 93 TREAT_NMD_AR#AHGD76 M AR 0 13948 TNMD_PL#PL/2009-04-03/DMD/345 M PL 0 13487 NL#D243 M NL 0
p.Gln1785X	c.5353C>T	38	1785	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17051 TNMD-US#2403 M US 0
p.Glu1845X	c.5533G>T	39	1845	CRD-repeat #14		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14384 TNMD_RU#1 M RU 0
p.Gln1851X	c.5551C>T	39	1851	CRD-repeat #14		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3374 TNMD_FR#F753122011 M FR 0 13164 TNMD_JP#20130517-01 M JP 0 12592 TNMD_JP#20110824-02 M JP 0 10771 TNMD_IT#306 M IT 0
p.Gln1852X	c.5554C>T	39	1852	CRD-repeat #14		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16323 TNMD-US#969 M US 0
p.Gln1855X	c.5563C>T	39	1855	CRD-repeat #14		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10835 TNMD_IT#357 M IT 0 10833 TNMD_IT#356 M IT 0
p.Tyr1882X	c.5646C>G	40	1882	CRD-repeat #15		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15255 TNMD_UK#109 M UK 0
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 3404 TNMD_FR#F3438319271 M FR 0
p.Gln1920X	c.5758C>T	41	1920	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15983 TNMD-US#395 M US 0
p.Glu1924X	c.5770G>T	41	1924	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12516 TNMD_JP#20110523-01 M JP 0
p.Glu1946X	c.5836G>T	41	1946	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8918 TNMD_DE#A30F2C05-D6EE-435 M DE 0
p.Gln1949X	c.5845C>T	41	1949	CRD-repeat #15		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16929 TNMD-US#2190 M US 0
p.Glu1960X	c.5878G>T	41	1960	CRD-repeat #15		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 810 TNMD_CA_DM#237 M CA 0 808 TNMD_CA_DM#236 M CA 0
p.Tyr1995X	c.5985T>G	42	1995	CRD-repeat #16		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11778 TNMD_JP#20100127-04 M JP 0
p.Gln2075X	c.6223C>T	43	2075	CRD-repeat #16		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18591 TNMD_AU#199 M AU 0
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 3470 TNMD_FR#F754483011 M FR 0
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 3476 TNMD_FR#F3419611471 M FR 0
p.Lys2114X	c.6340A>T	44	2114	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17441 TNMD-US#3774 M US 0
p.Gln2118X	c.6352C>T	44	2118	CRD-repeat #17		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9591 TNMD_ES_BCN#5 M ES 0 9589 TNMD_ES_BCN#4 M ES 0 9578 TNMD_ES1#JDA M ES 0 9576 TNMD_ES1#MDA M ES 0
p.Trp2119X	c.6356G>A	44	2119	CRD-repeat #17		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12636 TNMD_JP#20110928-01 M JP 0
p.Gln2125X	c.6373C>T	44	2125	CRD-repeat #17		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17850 TNMD_CN_ORG#DMD_132 M CN 0
p.Tyr2141X	c.6423C>G	44	2141	CRD-repeat #17		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16477 TNMD-US#1254 M US 0
p.Lys2146X	c.6436A>T	44	2146	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7477 TNMD_CN_HOSP#282 M CN 0
p.Trp2226X	c.6677G>A	46	2226	CRD-repeat #18		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10497 TNMD_IT#96 M IT 0 10495 TNMD_IT#95 M IT 0
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 5460 TNMD_FR#F3424714771 M FR 0
p.Trp2302X	c.6905G>A	47	2302	CRD-repeat #18		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18418 TNMD_CZ_SK#MDB-215 M CZ 0
p.Gln2325X	c.6973C>T	48	2325	CRD-repeat #19		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 45 TREAT_NMD_AR#AHGD18 M AR 0 12960 TNMD_JP#20120924-01 M JP 0
p.Gln2336X	c.7006C>T	48	2336	CRD-repeat #19		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17415 TNMD-US#3742 M US 0
p.Trp2343X	c.7028G>A	48	2343	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8960 TNMD_DE#A78F8B30-9201-4E4 M DE 0
p.Trp2410X	c.7229G>A	50	2410	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15737 TNMD_UK#351 M UK 0
p.Gln2522X	c.7564C>T	52	2522	CRD-repeat #20		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6366 TNMD_FR#F3411006861 M FR 0 127 TREAT_NMD_AR#AHGD24 M AR 0
p.Gln2526X	c.7576C>T	52	2526	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15799 TNMD_UK#382 M UK 0
p.Gln2558X	c.7672C>T	53	2558	CRD-repeat #20		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7591 TNMD_CN_HOSP#227 M CN 0
p.Gln2625X	c.7873C>T	54	2625	CRD-repeat #21		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11760 TNMD_JP#20100121-03 M JP 0
p.Gln2632X	c.7894C>T	54	2632	CRD-repeat #21		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12462 TNMD_JP#20110414-01 M JP 0
p.Trp2670X	c.8009G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6498 TNMD_FR#F750978011 M FR 0 894 TNMD_CA_DM#300 M CA 0 9272 TNMD_DE#E2A1A577-CDDC-4EE M DE 0 896 TNMD_CA_DM#301 M CA 0
p.Lys2721X	c.8161A>T	55	2721	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 676 TNMD_CA_DM#147 M CA 0
p.Lys2792X	c.8374A>T	56	2792	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18422 TNMD_CZ_SK#MD-B-032 M CZ 0
p.Gln2806X	c.8416C>T	57	2806	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12190 TNMD_JP#20100909-01 M JP 0
p.Trp2807X	c.8420G>A	57	2807	CRD-repeat #23		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1243 TNMD_CH#170 M CH 0 6578 TNMD_FR#F755937011 M FR 0
p.Gln2815X	c.8443C>T	57	2815	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14135 TNMD_PT#18 M PT 0
p.Trp2820X	c.8459G>A	57	2820	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12122 TNMD_JP#20100723-01 M JP 0
p.Gln2831X	c.8491C>T	57	2831	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9270 TNMD_DE#E24A1AD9-8410-4B1 M DE 0
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 15929 TNMD-US#310 M US 0
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 6614 TNMD_FR#F751113011 M FR 0
p.Gln2926X	c.8776C>T	59	2926	CRD-repeat #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 343 TNMD_BG#42 M BG 0
p.Glu2931X	c.8791G>T	59	2931	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1105 TNMD_CH#101 M CH 0
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 6620 TNMD_FR#F759564011 M FR 0
p.Glu2976X	c.8926G>T	59	2976	CRD-repeat #24		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16615 TNMD-US#1550 M US 0
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 6692 TNMD_FR#F3427316721 M FR 0
p.Trp3061X	c.9182G>A	62	3061	CRD-hinge region #4		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18430 TNMD_CZ_SK#MDB-4217 M CZ 0
p.Tyr3072X	c.9216C>G	62	3072	CRD-hinge region #4		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13048 TNMD_JP#20130115-01 M JP 0
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 6750 TNMD_FR#F4410610961 M FR 0 6752 TNMD_FR#F4410610971 M FR 0
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 6764 TNMD_FR#F753197111 M FR 0 6762 TNMD_FR#F753197211 M FR 0 6760 TNMD_FR#F753197011 M FR 0
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 17658 TNMD_CN_ORG#DMD_46 M CN 0 6768 TNMD_FR#F3418111271 M FR 0
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 6840 TNMD_FR#F756248011 M FR 0
p.Trp3284X	c.9851G>A	68	3284	Cystein-rich domain		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11678 TNMD_JP#20091216-05 M JP 0
p.Gln3290X	c.9868C>T	68	3290	Cystein-rich domain		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8350 TNMD_DE#3FFCA02D-9AE0-442 M DE 0
p.Gln3310X	c.9928C>T	68	3310	Carboxy-terminal region		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12780 TNMD_JP#20120308-01 M JP 0 12782 TNMD_JP#20120308-02 M JP 0
p.Gln3530X	c.10588C>T	75	3530	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15065 TNMD_UK#13 M UK 0
p.Gln3551X	c.10651C>T	75	3551	Carboxy-terminal region		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11500 TNMD_JP#20091102-06 M JP 0
p.Ser3637X	c.10910C>A	76	3637	Carboxy-terminal region		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7050 TNMD_FR#F756651111 M FR 0 7048 TNMD_FR#F756651011 M FR 0