The UMD-TREAT_DMD mutations database
317 patients with a substitution leading to a premature TGA codon

    Request ID: -

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly67X	c.199G>T	4	67	Actin binding domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1960 TNMD_FR#F751180011 M FR 0
p.Trp112X	c.336G>A	5	112	Actin binding domain		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14394 TNMD_RU#6 M RU 0 13441 NL#D201 M NL 0
p.Trp118X	c.354G>A	5	118	Actin binding domain		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9568 TNMD_ES1#AMA M ES 0 8558 TNMD_DE#647A2CBD-ABFC-49E M DE 0 7275 TNMD_CN_HOSP#387 M CN 0
p.Arg145X	c.433C>T	6	145	Actin binding domain		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8950 TNMD_DE#A5D499F9-05C8-440 M DE 0 2122 TNMD_FR#F759893011 M FR 0 2120 TNMD_FR#F757286011 M FR 0 2118 TNMD_FR#F3450624961 M FR 0 2116 TNMD_FR#F3450624971 M FR 0 2112 TNMD_FR#F3409620191 M FR 0 2108 TNMD_FR#F3414016051 M FR 0 15205 TNMD_UK#84 M UK 0 15203 TNMD_UK#83 M UK 0 14390 TNMD_RU#4 M RU 0 11069 TNMD_IT#527 M IT 0
p.Ser147X	c.440C>G	6	147	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15903 TNMD-US#274 M US 0
p.Ser191X	c.572C>G	7	191	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2164 TNMD_FR#F3502103581 M FR 0
p.Arg195X	c.583C>T	7	195	Actin binding domain		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9525 TNMD_EG#56 M EG 0 9523 TNMD_EG#55 M EG 0 8164 TNMD_DE#19FAE0E6-19DD-41C M DE 0 7415 TNMD_CN_HOSP#315 M CN 0 261 TNMD_BG#1 M BG 0 2170 TNMD_FR#F7510014011 M FR 0 18412 TNMD_CZ_SK#MD-B-060 M CZ 0 15263 TNMD_UK#113 M UK 0 15261 TNMD_UK#112 M UK 0
p.Leu229X	c.686T>G	8	229	Actin binding domain		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16493 TNMD-US#1273 M US 0 16491 TNMD-US#1271 M US 0
p.Ser234X	c.701C>G	8	234	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12130 TNMD_JP#20100802-02 M JP 0
p.Gly285X	c.853G>T	9	285	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17003 TNMD-US#2332 M US 0
p.Ser319X	c.956C>G	9	319	CRD-hinge region #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2386 TNMD_FR#F3415909581 M FR 0
p.Ser329X	c.986C>G	10	329	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2496 TNMD_FR#F750266011 M FR 0
p.Ser333X	c.998C>G	10	333	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8760 TNMD_DE#8770C728-58CB-4B0 M DE 0
p.Trp354X	c.1062G>A	10	354	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7579 TNMD_CN_HOSP#233 M CN 0 704 TNMD_CA_DM#169 M CA 0
p.Gly403X	c.1207G>T	11	403	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2528 TNMD_FR#F759496011 M FR 0
p.Ser429X	c.1286C>G	11	429	CRD-repeat #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2538 TNMD_FR#F757608011 M FR 0
p.Trp431X	c.1293G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2540 TNMD_FR#F3436018751 M FR 0
p.Leu445X	c.1334T>G	12	445	CRD-repeat #1		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1011 TNMD_CH#54 M CH 0
p.Gly537X	c.1609G>T	14	537	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13677 NL#D366 M NL 0
p.Arg539X	c.1615C>T	14	539	CRD-repeat #2		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 736 TNMD_CA_DM#191 M CA 0 2702 TNMD_FR#F690230AN81 M FR 0 2700 TNMD_FR#F690230AN41 M FR 0 2696 TNMD_FR#F3423613511 M FR 0 13942 TNMD_PL#PL/2004-05-26/DMD/54 M PL 0
p.Trp546X	c.1638G>A	14	546	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 TREAT_NMD_AR#AHGD17 M AR 0
p.Trp551X	c.1653G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2706 TNMD_FR#F759356011 M FR 0
p.Trp561X	c.1683G>A	14	561	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2708 TNMD_FR#F758026011 M FR 0
p.Cys569X	c.1707C>A	15	569	CRD-repeat #3		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12956 TNMD_JP#20120918-02 M JP 0
p.Trp574X	c.1722G>A	15	574	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8150 TNMD_DE#173AAE57-B5C6-4EB M DE 0
p.Ser598X	c.1793C>G	15	598	CRD-repeat #3		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16667 TNMD-US#1652 M US 0
p.Leu606X	c.1817T>G	16	606	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2736 TNMD_FR#F757722011 M FR 0
p.Cys650X	c.1950T>A	16	650	CRD-repeat #3		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15103 TNMD_UK#33 M UK 0
p.Leu654X	c.1961T>G	16	654	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13950 TNMD_PL#PL/2003-10-27/DMD/216 M PL 0
p.Ser675X	c.2024C>G	17	675	CRD-hinge region #2		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13944 TNMD_PL#PL/2006-01-18/DMD/187 M PL 0
p.Ser757X	c.2270C>G	18	757	CRD-repeat #4		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7721 TNMD_CN_HOSP#159 M CN 0 12994 TNMD_JP#20121022-01 M JP 0
p.Arg768X	c.2302C>T	19	768	CRD-repeat #4		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8662 TNMD_DE#76C28219-0F2C-443 M DE 0 7709 TNMD_CN_HOSP#166 M CN 0 2890 TNMD_FR#F3503700031 M FR 0 2888 TNMD_FR#F3425915241 M FR 0 15131 TNMD_UK#47 M UK 0 15129 TNMD_UK#46 M UK 0 13693 NL#D375 M NL 0 12846 TNMD_JP#20120507-01 M JP 0 12486 TNMD_JP#20110427-02 M JP 0 10793 TNMD_IT#323 M IT 0 10791 TNMD_IT#322 M IT 0 10483 TNMD_IT#86 M IT 0
p.Cys816X	c.2448C>A	20	816	CRD-repeat #4		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11460 TNMD_JP#20091027-02 M JP 0 11458 TNMD_JP#20091027-01 M JP 0
p.Arg889X	c.2665C>T	21	889	CRD-repeat #5		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12484 TNMD_JP#20110427-01 M JP 0
p.Leu890X	c.2669T>G	21	890	CRD-repeat #5		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17025 TNMD-US#2371 M US 0
p.Gly901X	c.2701G>T	21	901	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2964 TNMD_FR#F755542011 M FR 0
p.Arg928X	c.2782A>T	21	928	CRD-repeat #5		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8480 TNMD_DE#580521C1-EEDB-47F M DE 0
p.Ser958X	c.2873C>G	22	958	CRD-repeat #6		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17055 TNMD-US#2409 M US 0
p.Ser1020X	c.3059C>G	23	1020	CRD-repeat #6		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13489 NL#D244 M NL 0
p.Trp1029X	c.3087G>A	23	1029	CRD-repeat #6		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15153 TNMD_UK#58 M UK 0
p.Arg1051X	c.3151C>T	23	1051	CRD-repeat #7		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3062 TNMD_FR#F751660011 M FR 0 3060 TNMD_FR#F751286011 M FR 0 3058 TNMD_FR#F3431617741 M FR 0 18447 TNMD_AU#217 M AU 0 17269 TNMD-US#3294 M US 0 15159 TNMD_UK#61 M UK 0 13331 NL#D101 M NL 0 11304 TNMD_JP#20090909-01 M JP 0
p.Ser1167X	c.3500C>G	26	1167	CRD-repeat #8		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11322 TNMD_JP#20090914-05 M JP 0
p.Trp1172X	c.3516G>A	26	1172	CRD-repeat #8		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8612 TNMD_DE#6D8E0A48-0687-40E M DE 0
p.Trp1268X	c.3804G>A	28	1268	CRD-repeat #9		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16733 TNMD-US#1789 M US 0
p.Arg1459X	c.4375C>T	32	1459	CRD-repeat #10		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9942 TNMD_HK#72 M HK 0 9560 TNMD_ES1#EGC M ES 0 9158 TNMD_DE#CEEEE857-D7DD-4A1 M DE 0 18828 TNMD_NZ#171 M NZ 0 15213 TNMD_UK#88 M UK 0
p.Gly1556X	c.4666G>T	33	1556	CRD-repeat #11		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 532 TNMD_CA_DM#63 M CA 0
p.Arg1577X	c.4729C>T	34	1577	CRD-repeat #12		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9838 TNMD_HK#7 M HK 0 9836 TNMD_HK#6 M HK 0 9834 TNMD_HK#5 M HK 0 8370 TNMD_DE#42EB799D-DC63-49B M DE 0 3270 TNMD_FR#F69185161MA1 M FR 0 3268 TNMD_FR#F3442921581 M FR 0 18852 TNMD_NZ#193 M NZ 0 18701 TNMD_AU#249 M AU 0 18408 TNMD_CZ_SK#MD-B-015 M CZ 0 12322 TNMD_JP#20101228-01 M JP 0
p.Trp1586X	c.4758G>A	34	1586	CRD-repeat #12		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10763 TNMD_IT#299 M IT 0
p.Arg1666X	c.4996C>T	35	1666	CRD-repeat #12		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9192 TNMD_DE#D5CBFF66-B5B1-4A3 M DE 0 772 TNMD_CA_DM#214 M CA 0 3316 TNMD_FR#F750607111 M FR 0 3314 TNMD_FR#F750607011 M FR 0 3312 TNMD_FR#F750607211 M FR 0 3310 TNMD_FR#F6907400F71 M FR 0 3308 TNMD_FR#F3405703461 M FR 0 3306 TNMD_FR#F3427515581 M FR 0 13345 NL#D118 M NL 0 12518 TNMD_JP#20110525-01 M JP 0 10837 TNMD_IT#359 M IT 0
p.Trp1694X	c.5082G>A	36	1694	CRD-repeat #13		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3320 TNMD_FR#F750156011 M FR 0 12778 TNMD_JP#20120307-01 M JP 0
p.Ser1705X	c.5114C>G	36	1705	CRD-repeat #13		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17247 TNMD-US#3231 M US 0
p.Leu1720X	c.5159T>G	37	1720	CRD-repeat #13		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 TNMD_CA_DM#100 M CA 0
p.Leu1752X	c.5255T>G	37	1752	CRD-repeat #13		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15235 TNMD_UK#99 M UK 0 15233 TNMD_UK#98 M UK 0
p.Arg1770X	c.5308A>T	37	1770	CRD-repeat #13		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 165 TREAT_NMD_AR#AHGD8 M AR 0
p.Ser1788X	c.5363C>G	38	1788	CRD-repeat #14		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9334 TNMD_DE#EB340904-4B50-40F M DE 0 16091 TNMD-US#571 M US 0
p.Arg1844X	c.5530A>T	39	1844	CRD-repeat #14		Small rearrangement	Tv	A->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3370 TNMD_FR#F757870011 M FR 0 10545 TNMD_IT#129 M IT 0 1033 TNMD_CH#65 M CH 0 1027 TNMD_CH#62 M CH 0
p.Arg1868X	c.5602A>T	40	1868	CRD-repeat #14		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12700 TNMD_JP#20111202-01 M JP 0
p.Trp1879X	c.5637G>A	40	1879	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3402 TNMD_FR#F755473011 M FR 0
p.Trp1956X	c.5868G>A	41	1956	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16179 TNMD-US#747 M US 0
p.Arg1967X	c.5899C>T	41	1967	CRD-repeat #15		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3424 TNMD_FR#F3430816871 M FR 0 16835 TNMD-US#2020 M US 0 15901 TNMD-US#273 M US 0 15265 TNMD_UK#114 M UK 0 14105 TNMD_PT#3 M PT 0 14103 TNMD_PT#2 M PT 0 14101 TNMD_PT#1 M PT 0 13060 TNMD_JP#20130125-01 M JP 0 12906 TNMD_JP#20120725-01 M JP 0
p.Cys2024X	c.6072T>A	42	2024	CRD-repeat #16		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10775 TNMD_IT#308 M IT 0
p.Trp2085X	c.6255G>A	43	2085	CRD-repeat #16		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3474 TNMD_FR#F759486011 M FR 0 3472 TNMD_FR#F690430BJ71 M FR 0
p.Arg2095X	c.6283C>T	43	2095	CRD-repeat #16		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3480 TNMD_FR#F752876011 M FR 0 18414 TNMD_CZ_SK#MDB-9666 M CZ 0 17802 TNMD_CN_ORG#DMD_110 M CN 0 17249 TNMD-US#3244 M US 0 12712 TNMD_JP#20111219-01 M JP 0 11776 TNMD_JP#20100127-03 M JP 0 11772 TNMD_JP#20100127-01 M JP 0 10677 TNMD_IT#237 M IT 0
p.Arg2098X	c.6292C>T	44	2098	CRD-repeat #16		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3636 TNMD_FR#F757868011 M FR 0 3634 TNMD_FR#F759137011 M FR 0 3632 TNMD_FR#F753855011 M FR 0 3630 TNMD_FR#F3448624001 M FR 0 18416 TNMD_CZ_SK#MD-B-029 M CZ 0 1119 TNMD_CH#108 M CH 0 1117 TNMD_CH#107 M CH 0
p.Leu2220X	c.6659T>G	46	2220	CRD-repeat #18		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12044 TNMD_JP#20100611-02 M JP 0
p.Trp2302X	c.6906G>A	47	2302	CRD-repeat #18		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17359 TNMD-US#3617 M US 0
p.Leu2337X	c.7010T>G	48	2337	CRD-repeat #19		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5812 TNMD_FR#F3418510931 M FR 0
p.Trp2343X	c.7029G>A	48	2343	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15675 TNMD_UK#319 M UK 0
p.Arg2553X	c.7657C>T	52	2553	CRD-repeat #20		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6374 TNMD_FR#F757370011 M FR 0 18420 TNMD_CZ_SK#MD-B-050 M CZ 0 15803 TNMD_UK#384 M UK 0 11392 TNMD_JP#20090929-04 M JP 0 6370 TNMD_FR#F69160194m1 M FR 0 18810 TNMD_NZ#179 M NZ 0 6372 TNMD_FR#F3428415861 M FR 0 8044 TNMD_DE#05DFB9CC-2462-4FC M DE 0 9572 TNMD_ES1#SEL M ES 0 8242 TNMD_DE#2793B627-0B45-449 M DE 0 6378 TNMD_FR#F750504011 M FR 0 6376 TNMD_FR#F754630011 M FR 0
p.Leu2579X	c.7736T>G	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1053 TNMD_CH#75 M CH 0
p.Trp2585X	c.7755G>A	53	2585	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9830 TNMD_HK#3 M HK 0
p.Ser2605X	c.7814C>G	53	2605	CRD-repeat #21		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16081 TNMD-US#553 M US 0
p.Trp2670X	c.8010G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11978 TNMD_JP#20100419-02 M JP 0
p.Arg2680X	c.8038C>T	55	2680	CRD-repeat #21		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6530 TNMD_FR#F755216011 M FR 0 6528 TNMD_FR#F3427215761 M FR 0 17323 TNMD-US#3514 M US 0 14392 TNMD_RU#5 M RU 0 13233 NL#D031 M NL 0 8686 TNMD_DE#7AF47E33-6E75-403 M DE 0 8224 TNMD_DE#24AC7ED7-EA1E-4F4 M DE 0
p.Trp2738X	c.8214G>A	55	2738	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 506 TNMD_CA_DM#49 M CA 0
p.Arg2870X	c.8608C>T	58	2870	CRD-repeat #23		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12444 TNMD_JP#20110331-01 M JP 0 11792 TNMD_JP#20100201-02 M JP 0 1099 TNMD_CH#98 M CH 0 1097 TNMD_CH#97 M CH 0 18424 TNMD_CZ_SK#MDB-9516 M CZ 0 17381 TNMD-US#3664 M US 0 6594 TNMD_FR#F6921762MA1 M FR 0 6598 TNMD_FR#F4410010521 M FR 0 6596 TNMD_FR#F4410008781 M FR 0 9896 TNMD_HK#41 M HK 0 6600 TNMD_FR#F750485011 M FR 0 6602 TNMD_FR#F751764011 M FR 0
p.Arg2905X	c.8713C>T	59	2905	CRD-repeat #23		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6610 TNMD_FR#F69089577m1 M FR 0 11674 TNMD_JP#20091216-03 M JP 0 10917 TNMD_IT#419 M IT 0 7577 TNMD_CN_HOSP#234 M CN 0 7713 TNMD_CN_HOSP#164 M CN 0
p.Trp2915X	c.8745G>A	59	2915	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9898 TNMD_HK#42 M HK 0
p.Trp2925X	c.8775G>A	59	2925	CRD-repeat #23		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15909 TNMD-US#281 M US 0 16253 TNMD-US#873 M US 0
p.Arg2982X	c.8944C>T	60	2982	CRD-repeat #24		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10781 TNMD_IT#311 M IT 0 432 TNMD_CA_DM#2 M CA 0 18575 TNMD_AU#90 M AU 0 15937 TNMD-US#320 M US 0 11472 TNMD_JP#20091028-06 M JP 0 434 TNMD_CA_DM#3 M CA 0 6654 TNMD_FR#F3448924231 M FR 0 6656 TNMD_FR#F756333011 M FR 0
p.Gly2983X	c.8947G>T	60	2983	CRD-repeat #24		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18426 TNMD_CZ_SK#MDB-9191 M CZ 0 18428 TNMD_CZ_SK#MDB-1444 M CZ 0
p.Arg3034X	c.9100C>T	61	3034	CRD-repeat #24		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 131 TREAT_NMD_AR#AHGD6 M AR 0 15867 TNMD-US#207 M US 0 16865 TNMD-US#2075 M US 0 17029 TNMD-US#2375 M US 0 8054 TNMD_DE#06BA4AAC-5AB3-4AF M DE 0 244 TNMD_BE_AR#24 M BE 0 17203 TNMD-US#2779 M US 0 8998 TNMD_DE#ABC75BFA-9442-44D M DE 0
p.Trp3061X	c.9183G>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 10759 TNMD_IT#296 M IT 0
p.Arg3113X	c.9337C>T	64	3113	Cystein-rich domain		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6746 TNMD_FR#F752297011 M FR 0 12754 TNMD_JP#20120215-01 M JP 0 6748 TNMD_FR#F752421011 M FR 0 953 TNMD_CH#24 M CH 0
p.Cys3174X	c.9522C>A	65	3174	Cystein-rich domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13000 TNMD_JP#20121026-01 M JP 0
p.Arg3190X	c.9568C>T	66	3190	Cystein-rich domain		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6792 TNMD_FR#F3410306931 M FR 0 6794 TNMD_FR#F3409306301 M FR 0 6796 TNMD_FR#F3502901561 M FR 0 6798 TNMD_FR#F69176198MA1 M FR 0 6800 TNMD_FR#F69176212MA1 M FR 0 6804 TNMD_FR#F372239605501 M FR 0 6802 TNMD_FR#F371510101621 M FR 0 6806 TNMD_FR#F372239604591 M FR 0 6808 TNMD_FR#F372166903671 M FR 0 6810 TNMD_FR#F754464011 M FR 0 6812 TNMD_FR#F754941011 M FR 0 6814 TNMD_FR#F759195011 M FR 0 6816 TNMD_FR#F752204011 M FR 0
p.Cys3316X	c.9948C>A	68	3316	Carboxy-terminal region		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11618 TNMD_JP#20091126-01 M JP 0
p.Arg3345X	c.10033C>T	69	3345	Carboxy-terminal region		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8796 TNMD_DE#8DB7FA47-9CE2-490 M DE 0 6882 TNMD_FR#F752893011 M FR 0 6880 TNMD_FR#F372192403791 M FR 0 15043 TNMD_UK#2 M UK 0 143 TREAT_NMD_AR#AHGD114 M AR 0 141 TREAT_NMD_AR#AHGD115 M AR 0 11872 TNMD_JP#20100302-01 M JP 0
p.Ser3365X	c.10094C>G	70	3365	Carboxy-terminal region		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15045 TNMD_UK#3 M UK 0 13309 NL#D082 M NL 0
p.Arg3370X	c.10108C>T	70	3370	Carboxy-terminal region		Small rearrangement	Ts	C->T	15
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 995 TNMD_CH#46 M CH 0 989 TNMD_CH#43 M CH 0 9006 TNMD_DE#AC7444A4-0CB4-456 M DE 0 8772 TNMD_DE#88500271-39D9-439 M DE 0 8020 TNMD_DE#00E82352-CCF5-40A M DE 0 7609 TNMD_CN_HOSP#218 M CN 0 6908 TNMD_FR#F750453011 M FR 0 6904 TNMD_FR#F750453111 M FR 0 6902 TNMD_FR#F753466011 M FR 0 6900 TNMD_FR#F3444524141 M FR 0 6896 TNMD_FR#F3419111671 M FR 0 18388 TNMD_CZ_SK#MD-B-004 M CZ 0 16015 TNMD-US#446 M US 0 15047 TNMD_UK#4 M UK 0 12128 TNMD_JP#20100802-01 M JP 0
p.Arg3381X	c.10141C>T	70	3381	Carboxy-terminal region		Small rearrangement	Ts	C->T	23
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8394 TNMD_DE#480A4568-CA4C-457 M DE 0 838 TNMD_CA_DM#258 M CA 0 8086 TNMD_DE#0C32F171-8ECF-489 M DE 0 6936 TNMD_FR#F7510148011 M FR 0 6932 TNMD_FR#F759469011 M FR 0 6930 TNMD_FR#F754899011 M FR 0 6928 TNMD_FR#F372043703171 M FR 0 6926 TNMD_FR#F372043704531 M FR 0 6924 TNMD_FR#F37734807651 M FR 0 6922 TNMD_FR#F3437921981 M FR 0 6920 TNMD_FR#F3440020671 M FR 0 6918 TNMD_FR#F3410006561 M FR 0 18390 TNMD_CZ_SK#MD-B-008 M CZ 0 15905 TNMD-US#276 M US 0 15055 TNMD_UK#8 M UK 0 15053 TNMD_UK#7 M UK 0 15051 TNMD_UK#6 M UK 0 12958 TNMD_JP#20120919-01 M JP 0 12918 TNMD_JP#20120808-02 M JP 0 12774 TNMD_JP#20120305-05 M JP 0 12734 TNMD_JP#20120119-02 M JP 0 12480 TNMD_JP#20110422-02 M JP 0 10769 TNMD_IT#302 M IT 0
p.Arg3391X	c.10171C>T	70	3391	Carboxy-terminal region		Small rearrangement	Ts	C->T	22
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6960 TNMD_FR#F751319011 M FR 0 6956 TNMD_FR#F755214011 M FR 0 6954 TNMD_FR#F750994211 M FR 0 6952 TNMD_FR#F750994111 M FR 0 6950 TNMD_FR#F750994011 M FR 0 6948 TNMD_FR#F750955011 M FR 0 6946 TNMD_FR#F372331504341 M FR 0 6944 TNMD_FR#F69107659m1 M FR 0 6942 TNMD_FR#F3417412891 M FR 0 6940 TNMD_FR#F3420514671 M FR 0 6938 TNMD_FR#F3411507161 M FR 0 480 TNMD_CA_DM#33 M CA 0 18794 TNMD_NZ#303 M NZ 0 18679 TNMD_AU#111 M AU 0 17309 TNMD-US#3481 M US 0 16225 TNMD-US#816 M US 0 15059 TNMD_UK#10 M UK 0 15057 TNMD_UK#9 M UK 0 12570 TNMD_JP#20110727-04 M JP 0 12568 TNMD_JP#20110727-03 M JP 0 11484 TNMD_JP#20091029-07 M JP 0 1039 TNMD_CH#68 M CH 0