The UMD-TREAT_DMD mutations database
Gln to Stop mutations

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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