The
UMD-TREAT_DMD
mutations database
Splice mutations (<10 bp from exon) (199 records)
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
c.IVS1+1G>T (c.31+1G>T)
1-2
11
Small rearrangement
Tv
G->T
7
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
1378
TNMD_FR#F372779406001
M
FR
0
1372
TNMD_FR#F37C48807671
M
FR
0
1364
TNMD_FR#F372193803831
M
FR
0
1362
TNMD_FR#F37C48807641
M
FR
0
1358
TNMD_FR#F372779406311
M
FR
0
1380
TNMD_FR#F372779406021
M
FR
0
1466
TNMD_FR#F758755011
M
FR
0
c.IVS1+5G>C (c.31+5G>C)
1-2
11
Small rearrangement
Tv
G->C
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
1412
TNMD_FR#F756392111
M
FR
0
1404
TNMD_FR#F756392011
M
FR
0
1414
TNMD_FR#F756392211
M
FR
0
c.IVS2+1G>A (c.93+1G>A)
2
31
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8220
TNMD_DE#23E2F6A0-9847-46B
M
DE
0
c.IVS3+1G>A (c.186+1G>A)
3
62
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
1800
TNMD_FR#F753278011
M
FR
0
c.IVS5+1G>A (c.357+1G>A)
5
119
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2072
TNMD_FR#F757188111
M
FR
0
c.IVS5+1G>C (c.357+1G>C)
5
119
Small rearrangement
Tv
G->C
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2070
TNMD_FR#F757188011
M
FR
0
14094
TNMD_PL#PL/2005-04-28/DMD/321
M
PL
0
975
TNMD_CH#35
M
CH
0
c.IVS5-1G>A (c.358-1G>A)
6
120
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2074
TNMD_FR#F3406114141
M
FR
0
c.IVS5-1G>T (c.358-1G>T)
6
120
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8564
TNMD_DE#65192FD8-8097-453
M
DE
0
c.IVS5-2A>G (c.358-2A>G)
6
120
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2086
TNMD_FR#F3425414741
M
FR
0
c.IVS6+2T>C (c.530+2T>C)
6-7
177
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2134
TNMD_FR#F3450825041
M
FR
0
c.IVS6+2T>G (c.530+2T>G)
6-7
177
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18808
TNMD_NZ#128
M
NZ
0
c.IVS6-1G>T (c.531-1G>T)
6-7
177
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2152
TNMD_FR#F751755011
M
FR
0
c.IVS6-2A>C (c.531-2A>C)
6-7
177
Small rearrangement
Tv
A->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17105
TNMD-US#2530
M
US
0
c.IVS7+1G>T (c.649+1G>T)
7-8
217
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12836
TNMD_JP#20120425-01
M
JP
0
14191
TNMD_RS#DMD_69
M
RS
0
c.IVS7+2T>C (c.649+2T>C)
7-8
217
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13241
NL#D035
M
NL
0
c.IVS7+5G>A (c.649+5G>A)
7-8
217
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18735
TNMD_AU#245
M
AU
0
c.IVS8+2T>C (c.831+2T>C)
8
277
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12374
TNMD_JP#20110214-02
M
JP
0
c.IVS9-1G>A (c.961-1G>A)
10
321
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
482
TNMD_CA_DM#34
M
CA
0
c.IVS10+1G>T (c.1149+1G>T)
10
383
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18392
TNMD_CZ_SK#MDB-7863
M
CZ
0
14050
TNMD_PL#PL/1997-06-23/DMD/15
M
PL
0
c.IVS10-2A>G (c.1150-2A>G)
11
384
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7463
TNMD_CN_HOSP#290
M
CN
0
c.IVS11+1G>T (c.1331+1G>T)
11-12
444
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2588
TNMD_FR#F754083011
M
FR
0
2592
TNMD_FR#F751218011
M
FR
0
c.IVS11-9A>G (c.1332-9A>G)
11-12
444
Small rearrangement
Ts
A->G
6
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9032
TNMD_DE#B05E624F-6182-493
M
DE
0
55
TREAT_NMD_AR#AHGD62
M
AR
0
2596
TNMD_FR#F750825211
M
FR
0
2594
TNMD_FR#F750825111
M
FR
0
2590
TNMD_FR#F758040011
M
FR
0
2586
TNMD_FR#F750825011
M
FR
0
c.IVS12+1G>T (c.1482+1G>T)
12
494
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17017
TNMD-US#2350
M
US
0
2610
TNMD_FR#F3428716121
M
FR
0
c.IVS13-1G>A (c.1603-1G>A)
14
535
Small rearrangement
Ts
G->A
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2662
TNMD_FR#F34CM20C141
M
FR
0
2664
TNMD_FR#F34CM20C151
M
FR
0
2680
TNMD_FR#F34CM200C41
M
FR
0
c.IVS16+1G>T (c.1992+1G>T)
16
664
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17369
TNMD-US#3634
M
US
0
c.IVS16-3C>G (c.1993-3C>G)
17
665
Small rearrangement
Tv
C->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13952
TNMD_PL#PL/2005-08-13/DMD/280
M
PL
0
c.IVS17-1G>A (c.2169-1G>A)
17-18
723
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11240
TNMD_JP#20090821-02
M
JP
0
c.IVS17-2A>G (c.2169-2A>G)
17-18
723
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
411
TNMD_BG#78
M
BG
0
c.IVS17-2A>T (c.2169-2A>T)
17-18
723
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17832
TNMD_CN_ORG#DMD_123
M
CN
0
c.IVS18+1G>A (c.2292+1G>A)
18
764
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15119
TNMD_UK#41
M
UK
0
c.IVS18+1G>T (c.2292+1G>T)
18
764
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17748
TNMD_CN_ORG#DMD_84
M
CN
0
c.IVS18+2T>C (c.2292+2T>C)
18
764
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
882
TNMD_CA_DM#294
M
CA
0
c.IVS18-1G>A (c.2293-1G>A)
19
765
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7601
TNMD_CN_HOSP#222
M
CN
0
c.IVS18-1G>T (c.2293-1G>T)
19
765
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2860
TNMD_FR#F3502500121
M
FR
0
c.IVS18-5del7 (c.2293-5del7)
19
765
Small rearrangement
Tv
del7
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2878
TNMD_FR#F750890011
M
FR
0
c.IVS19+2T>C (c.2380+2T>C)
19-20
794
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15949
TNMD-US#346
M
US
0
c.IVS19-2A>G (c.2381-2A>G)
19-20
794
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13363
NL#D132
M
NL
0
c.IVS20+1G>A (c.2622+1G>A)
20
874
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2948
TNMD_FR#F755389011
M
FR
0
11826
TNMD_JP#20100210-04
M
JP
0
c.IVS20+2T>G (c.2622+2T>G)
20
874
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2946
TNMD_FR#F6918400C61
M
FR
0
c.IVS20-3C>G (c.2623-3C>G)
21
875
Small rearrangement
Tv
C->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18830
TNMD_NZ#114
M
NZ
0
17405
TNMD-US#3724
M
US
0
c.IVS21+1delG (c.2803+1delG)
21-22
935
Small rearrangement
Tv
delG
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
81
TREAT_NMD_AR#AHGD74
M
AR
0
c.IVS21-1G>T (c.2804-1G>T)
21-22
935
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11338
TNMD_JP#20090917-03
M
JP
0
c.IVS21-2A>C (c.2804-2A>C)
21-22
935
Small rearrangement
Tv
A->C
4
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16871
TNMD-US#2086
M
US
0
3020
TNMD_FR#F756702111
M
FR
0
3004
TNMD_FR#F756702011
M
FR
0
2978
TNMD_FR#F3417610531
M
FR
0
c.IVS21-2A>G (c.2804-2A>G)
21-22
935
Small rearrangement
Ts
A->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16475
TNMD-US#1248
M
US
0
12586
TNMD_JP#20110817-01
M
JP
0
c.IVS21-2A>T (c.2804-2A>T)
21-22
935
Small rearrangement
Tv
A->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3008
TNMD_FR#F756645011
M
FR
0
3018
TNMD_FR#F750559011
M
FR
0
c.IVS22+1G>T (c.2949+1G>T)
22
983
Small rearrangement
Tv
G->T
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3038
TNMD_FR#F755757011
M
FR
0
3036
TNMD_FR#F757621011
M
FR
0
3034
TNMD_FR#F3427615591
M
FR
0
c.IVS24+1G>A (c.3276+1G>A)
24
1092
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3070
TNMD_FR#F756530011
M
FR
0
1181
TNMD_CH#139
M
CH
0
c.IVS24-1G>T (c.3277-1G>T)
25
1093
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8546
TNMD_DE#627F215B-1493-40A
M
DE
0
c.IVS26+1G>A (c.3603+1G>A)
26
1201
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9597
TNMD_ES_BCN#9
M
ES
0
c.IVS26+1G>T (c.3603+1G>T)
26
1201
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17273
TNMD-US#3310
M
US
0
c.IVS26+2T>A (c.3603+2T>A)
26
1201
Small rearrangement
Tv
T->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3124
TNMD_FR#F3413109071
M
FR
0
13181
NL#D004
M
NL
0
c.IVS27+1G>A (c.3786+1G>A)
27
1262
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11748
TNMD_JP#20100119-01
M
JP
0
c.IVS32+1G>A (c.4518+1G>A)
32
1506
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3238
TNMD_FR#F3418310771
M
FR
0
c.IVS32+1G>T (c.4518+1G>T)
32
1506
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11238
TNMD_JP#20090821-01
M
JP
0
c.IVS32+2T>C (c.4518+2T>C)
32
1506
Small rearrangement
Ts
T->C
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12016
TNMD_JP#20100526-02
M
JP
0
7481
TNMD_CN_HOSP#280
M
CN
0
c.IVS32+2T>G (c.4518+2T>G)
32
1506
Small rearrangement
Tv
T->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18497
TNMD_AU#221
M
AU
0
8850
TNMD_DE#9502C0C8-2D21-485
M
DE
0
c.IVS32+5G>A (c.4518+5G>A)
32
1506
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11226
TNMD_JP#20090814-01
M
JP
0
16057
TNMD-US#530
M
US
0
c.IVS32+6T>A (c.4518+6T>A)
32
1506
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
456
TNMD_CA_DM#19
M
CA
0
c.IVS34+2T>C (c.4845+2T>C)
34
1615
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8774
TNMD_DE#88969800-14F2-422
M
DE
0
c.IVS35-2A>G (c.5026-2A>G)
36
1676
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8568
TNMD_DE#659F1AF1-A820-4EE
M
DE
0
c.IVS36-3T>G (c.5155-3T>G)
37
1719
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13455
NL#D215
M
NL
0
c.IVS38-3C>G (c.5449-3C>G)
39
1817
Small rearrangement
Tv
C->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12968
TNMD_JP#20120928-02
M
JP
0
c.IVS42-1G>A (c.6118-1G>A)
43
2040
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8556
TNMD_DE#646D0E57-F4C8-43F
M
DE
0
c.IVS43+1G>T (c.6290+1G>T)
43-44
2097
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12602
TNMD_JP#20110902-01
M
JP
0
3510
TNMD_FR#F69233361m1
M
FR
0
c.IVS43+2T>C (c.6290+2T>C)
43-44
2097
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3612
TNMD_FR#F751727011
M
FR
0
c.IVS43+5G>C (c.6290+5G>C)
43-44
2097
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12198
TNMD_JP#20100913-02
M
JP
0
c.IVS43-1G>A (c.6291-1G>A)
43-44
2097
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11404
TNMD_JP#20091006-02
M
JP
0
c.IVS44+1delG (c.6438+1delG)
44
2146
Small rearrangement
Tv
delG
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8824
TNMD_DE#9109BB63-4F7F-4CF
M
DE
0
c.IVS44+1G>A (c.6438+1G>A)
44
2146
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7291
TNMD_CN_HOSP#378
M
CN
0
c.IVS44+2insTT (c.6438+2insTT)
44
2146
Small rearrangement
Tv
insTT
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15313
TNMD_UK#138
M
UK
0
c.IVS45+1G>A (c.6614+1G>A)
45-46
2205
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17465
TNMD-US#3838
M
US
0
c.IVS45+1G>T (c.6614+1G>T)
45-46
2205
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
147
TREAT_NMD_AR#AHGD113
M
AR
0
c.IVS45+2T>C (c.6614+2T>C)
45-46
2205
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16023
TNMD-US#457
M
US
0
c.IVS45-1G>C (c.6615-1G>C)
45-46
2205
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18671
TNMD_AU#242
M
AU
0
c.IVS45-2A>T (c.6615-2A>T)
45-46
2205
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11696
TNMD_JP#20091222-02
M
JP
0
c.IVS46+2T>C (c.6762+2T>C)
46
2254
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
14797
TNMD_TR_AN#TR0364000601
M
TR
0
c.IVS47-2A>G (c.6913-2A>G)
48
2305
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
5502
TNMD_FR#F3424013661
M
FR
0
c.IVS48+1G>T (c.7098+1G>T)
48
2366
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
5816
TNMD_FR#F3437218921
M
FR
0
5814
TNMD_FR#F3437218911
M
FR
0
c.IVS49-3A>G (c.7201-3A>G)
50
2401
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7439
TNMD_CN_HOSP#302
M
CN
0
c.IVS50+1G>A (c.7309+1G>A)
50-51
2437
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6122
TNMD_FR#F3411407151
M
FR
0
c.IVS50+2T>A (c.7309+2T>A)
50-51
2437
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6232
TNMD_FR#F758746011
M
FR
0
c.IVS50-1G>A (c.7310-1G>A)
50-51
2437
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6110
TNMD_FR#F69218116m1
M
FR
0
c.IVS50-2A>G (c.7310-2A>G)
50-51
2437
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13645
NL#D348
M
NL
0
c.IVS54+1G>A (c.8027+1G>A)
54-55
2676
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6500
TNMD_FR#F3428816151
M
FR
0
13661
NL#D357
M
NL
0
c.IVS54+1G>T (c.8027+1G>T)
54-55
2676
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13595
NL#D312
M
NL
0
13593
NL#D311
M
NL
0
c.IVS55+5G>A (c.8217+5G>A)
55
2739
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12402
TNMD_JP#20110225-01
M
JP
0
c.IVS55-1G>C (c.8218-1G>C)
56
2740
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16637
TNMD-US#1608
M
US
0
c.IVS55-2A>G (c.8218-2A>G)
56
2740
Small rearrangement
Ts
A->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6562
TNMD_FR#F758585011
M
FR
0
12788
TNMD_JP#20120312-01
M
JP
0
c.IVS56+1delG (c.8390+1delG)
56-57
2797
Small rearrangement
Tv
delG
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8406
TNMD_DE#495A595A-8039-4A1
M
DE
0
c.IVS56+1G>A (c.8390+1G>A)
56-57
2797
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
14152
TNMD_RO_DMD2#9
M
RO
0
c.IVS56-1G>A (c.8391-1G>A)
56-57
2797
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16529
TNMD-US#1337
M
US
0
12668
TNMD_JP#20111102-02
M
JP
0
c.IVS58+1delG (c.8668+1delG)
58-59
2890
Small rearrangement
Tv
delG
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7311
TNMD_CN_HOSP#367
M
CN
0
c.IVS58+1G>C (c.8668+1G>C)
58-59
2890
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13439
NL#D200
M
NL
0
c.IVS58-2A>G (c.8669-2A>G)
58-59
2890
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13563
NL#D291
M
NL
0
c.IVS60-1G>A (c.9085-1G>A)
61
3029
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6664
TNMD_FR#F3444922511
M
FR
0
c.IVS61+1G>A (c.9163+1G>A)
61-62
3055
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11646
TNMD_JP#20091207-04
M
JP
0
1229
TNMD_CH#163
M
CH
0
c.IVS61+2T>G (c.9163+2T>G)
61-62
3055
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17437
TNMD-US#3770
M
US
0
c.IVS61-2A>G (c.9164-2A>G)
61-62
3055
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12654
TNMD_JP#20111011-01
M
JP
0
c.IVS62+1G>A (c.9224+1G>A)
62-63
3075
Small rearrangement
Ts
G->A
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6726
TNMD_FR#F750558011
M
FR
0
6718
TNMD_FR#F690970CL71
M
FR
0
17001
TNMD-US#2330
M
US
0
c.IVS62+5G>C (c.9224+5G>C)
62-63
3075
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6710
TNMD_FR#F3429216691
M
FR
0
c.IVS62-10T>A (c.9225-10T>A)
62-63
3075
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12222
TNMD_JP#20101012-01
M
JP
0
c.IVS62-1G>A (c.9225-1G>A)
62-63
3075
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6722
TNMD_FR#F751463011
M
FR
0
c.IVS62-2A>C (c.9225-2A>C)
62-63
3075
Small rearrangement
Tv
A->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11922
TNMD_JP#20100316-06
M
JP
0
c.IVS63+2T>A (c.9286+2T>A)
63-64
3096
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6736
TNMD_FR#F69075072m1
M
FR
0
c.IVS64+1G>A (c.9361+1G>A)
64-65
3121
Small rearrangement
Ts
G->A
5
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
746
TNMD_CA_DM#198
M
CA
0
744
TNMD_CA_DM#197
M
CA
0
395
TNMD_BG#69
M
BG
0
17257
TNMD-US#3266
M
US
0
11982
TNMD_JP#20100420-01
M
JP
0
c.IVS65+1G>A (c.9563+1G>A)
65-66
3188
Small rearrangement
Ts
G->A
7
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11492
TNMD_JP#20091102-02
M
JP
0
13269
NL#D051
M
NL
0
6782
TNMD_FR#F69040648m1
M
FR
0
6780
TNMD_FR#F3444622301
M
FR
0
6778
TNMD_FR#F3441120701
M
FR
0
6776
TNMD_FR#F3436618801
M
FR
0
6772
TNMD_FR#F3414408971
M
FR
0
c.IVS65-2A>G (c.9564-2A>G)
65-66
3188
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6790
TNMD_FR#F750541011
M
FR
0
c.IVS65-2A>T (c.9564-2A>T)
65-66
3188
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6784
TNMD_FR#F3425514751
M
FR
0
c.IVS66+1G>A (c.9649+1G>A)
66-67
3217
Small rearrangement
Ts
G->A
4
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6826
TNMD_FR#F754205111
M
FR
0
6824
TNMD_FR#F754205011
M
FR
0
6822
TNMD_FR#F750944011
M
FR
0
6820
TNMD_FR#F372256004191
M
FR
0
c.IVS66+6T>C (c.9649+6T>C)
66-67
3217
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8108
TNMD_DE#0F2C4766-3321-4DE
M
DE
0
c.IVS67+4delA (c.9807+4delA)
67
3269
Small rearrangement
Tv
delA
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6844
TNMD_FR#F3416009621
M
FR
0
c.IVS67+5G>A (c.9807+5G>A)
67
3269
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6846
TNMD_FR#F7510101011
M
FR
0
c.IVS67+6T>G (c.9807+6T>G)
67
3269
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16375
TNMD-US#1070
M
US
0
c.IVS68+1G>C (c.9974+1G>C)
68-69
3325
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12080
TNMD_JP#20100706-02
M
JP
0
c.IVS68+1G>T (c.9974+1G>T)
68-69
3325
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6868
TNMD_FR#F757898111
M
FR
0
6866
TNMD_FR#F757898011
M
FR
0
c.IVS68-2A>G (c.9975-2A>G)
68-69
3325
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12560
TNMD_JP#20110711-01
M
JP
0
c.IVS69+1G>A (c.10086+1G>A)
69
3362
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
204
TNMD_BE_AR#3
M
BE
0
c.IVS69+1G>T (c.10086+1G>T)
69
3362
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6890
TNMD_FR#F751015011
M
FR
0
6888
TNMD_FR#F3408405481
M
FR
0
c.IVS69+5G>C (c.10086+5G>C)
69
3362
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6886
TNMD_FR#F3408005401
M
FR
0
c.IVS69-2A>T (c.10087-2A>T)
70
3363
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6892
TNMD_FR#F3431117051
M
FR
0
c.IVS70+1G>A (c.10223+1G>A)
70-71
3408
Small rearrangement
Ts
G->A
9
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6968
TNMD_FR#F69154154m1
M
FR
0
1073
TNMD_CH#85
M
CH
0
6964
TNMD_FR#F3417510511
M
FR
0
12052
TNMD_JP#20100617-01
M
JP
0
6980
TNMD_FR#F754248011
M
FR
0
6982
TNMD_FR#F751511011
M
FR
0
6988
TNMD_FR#F754062111
M
FR
0
6984
TNMD_FR#F754062011
M
FR
0
6976
TNMD_FR#F37C154506991
M
FR
0
c.IVS70+1G>T (c.10223+1G>T)
70-71
3408
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
10061
TNMD_HU#2763
M
HU
0
10059
TNMD_HU#2762
M
HU
0
c.IVS70+2InsT (c.10223+2InsT)
70-71
3408
Small rearrangement
Tv
InsT
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6974
TNMD_FR#F3451425161
M
FR
0
6966
TNMD_FR#F69145376m1
M
FR
0
c.IVS70+3G>C (c.10223+3G>C)
70-71
3408
Small rearrangement
Tv
G->C
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11346
TNMD_JP#20090918-04
M
JP
0
6970
TNMD_FR#F69221070m1
M
FR
0
6978
TNMD_FR#F753804011
M
FR
0
c.IVS70+5G>A (c.10223+5G>A)
70-71
3408
Small rearrangement
Ts
G->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6972
TNMD_FR#F372057803391
M
FR
0
6986
TNMD_FR#F754757011
M
FR
0
c.IVS70-1InsT (c.10224-1InsT)
70-71
3408
Small rearrangement
Tv
InsT
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11640
TNMD_JP#20091204-02
M
JP
0
11638
TNMD_JP#20091204-01
M
JP
0