The UMD-DMD France mutations database
Splice mutations (<10 bp from exon) (158 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
12   
c.IVS1+2insT (c.31+2insT)
1-2
11
Dp427m unique N-Ter
Small rearrangement
Tv
insT
1   
c.IVS1+3insT (c.31+3insT)
1-2
11
Small rearrangement
Tv
insT
2   
c.IVS1+5G>C (c.31+5G>C)
1-2
11
Small rearrangement
Tv
G->C
5   
c.IVS2+1del5 (c.93+1del5)
2
31
Small rearrangement
Tv
del5
1   
c.IVS2-1G>A (c.94-1G>A)
3
32
Small rearrangement
Ts
G->A
2   
c.IVS2-2A>T (c.94-2A>T)
3
32
Small rearrangement
Tv
A->T
1   
c.IVS3+1G>A (c.186+1G>A)
3
32
Small rearrangement
Ts
G->A
1   
c.IVS3-1G>C (c.187-1G>C)
4
63
Small rearrangement
Tv
G->C
1   
c.IVS3-2A>G (c.187-2A>G)
4
63
Small rearrangement
Ts
A->G
3   
c.IVS5+1G>A (c.357+1G>A)
5
119
Small rearrangement
Ts
G->A
1   
c.IVS5+1G>C (c.357+1G>C)
5
119
Small rearrangement
Tv
G->C
1   
c.IVS5-1G>A (c.358-1G>A)
6
120
Small rearrangement
Ts
G->A
1   
c.IVS5-2A>G (c.358-2A>G)
6
120
Small rearrangement
Ts
A->G
1   
c.IVS6+2T>C (c.530+2T>C)
6-7
177
Actin binding domain
Small rearrangement
Ts
T->C
1   
c.IVS6-10T>A (c.531-10T>A)
6-7
177
Actin binding domain
Small rearrangement
Tv
T->A
1   
c.IVS6-1G>T (c.531-1G>T)
6-7
177
Small rearrangement
Tv
G->T
2   
c.IVS7+2T>C (c.649+2T>C)
7-8
217
Small rearrangement
Ts
T->C
1   
c.IVS11+1G>T (c.1331+1G>T)
11-12
444
Small rearrangement
Tv
G->T
2   
c.IVS11-9A>G (c.1332-9A>G)
11-12
444
Small rearrangement
Ts
A->G
4   
c.IVS12+1G>T (c.1482+1G>T)
12
494
Small rearrangement
Tv
G->T
1   
c.IVS12-1G>C (c.1483-1G>C)
13
495
Small rearrangement
Tv
G->C
1   
c.IVS13+1G>A (c.1602+1G>A)
13
495
Small rearrangement
Ts
G->A
1   
c.IVS13+1G>T (c.1602+1G>T)
13
534
Small rearrangement
Tv
G->T
1   
c.IVS13-1G>A (c.1603-1G>A)
14
535
Small rearrangement
Ts
G->A
3   
c.IVS13-2A>C (c.1603-2A>C)
14
535
Small rearrangement
Tv
A->C
1   
c.IVS14+1G>T (c.1704+1G>T)
14
568
Small rearrangement
Tv
G->T
1   
c.IVS18-1G>T (c.2293-1G>T)
19
765
Small rearrangement
Tv
G->T
1   
c.IVS18-5del7a (c.2293-5del7a)
19
765
Small rearrangement
Tv
del7a
1   
c.IVS19-2A>G (c.2381-2A>G)
19-20
794
Small rearrangement
Ts
A->G
1   
c.IVS20+1G>A (c.2622+1G>A)
20
874
Small rearrangement
Ts
G->A
1   
c.IVS20+2T>G (c.2622+2T>G)
20
874
Small rearrangement
Tv
T->G
1   
c.IVS21-2A>C (c.2804-2A>C)
21-22
935
Small rearrangement
Tv
A->C
4   
c.IVS21-2A>T (c.2804-2A>T)
21-22
935
Small rearrangement
Tv
A->T
3   
c.IVS22+1G>T (c.2949+1G>T)
22
983
Small rearrangement
Tv
G->T
3   
c.IVS24+1G>A (c.3276+1G>A)
24
1092
Small rearrangement
Ts
G->A
1   
c.IVS24-1G>T (c.3277-1G>T)
25
1093
Small rearrangement
Tv
G->T
1   
c.IVS26+2insT (c.3603+2insT)
26
1201
Small rearrangement
Tv
insT
1   
c.IVS26+2T>A (c.3603+2T>A)
26
1201
Small rearrangement
Tv
T->A
1   
c.IVS26+3A>T (c.3603+3A>T)
26
1201
Small rearrangement
Tv
A->T
5   
c.IVS26+3insT (c.3603+3insT)
26
1201
Small rearrangement
Tv
insT
2   
c.IVS29+1G>A (c.4071+1G>A)
29
1357
Small rearrangement
Ts
G->A
3   
c.IVS29+2T>A (c.4071+2T>A)
29
1357
Small rearrangement
Tv
T->A
1   
c.IVS29+2T>C (c.4071+2T>C)
29
1357
Small rearrangement
Ts
T->C
1   
c.IVS32+1G>A (c.4518+1G>A)
32
1506
Small rearrangement
Ts
G->A
1   
c.IVS32-3del7 (c.4519-3del7)
33
1507
Small rearrangement
Tv
del7
2   
c.IVS32-5C>G (c.4519-5C>G)
33
1507
Small rearrangement
Tv
C->G
3   
c.IVS34+2T>C (c.4845+2T>C)
34
1615
Small rearrangement
Ts
T->C
1   
c.IVS36+1G>A (c.5154+1G>A)
36
1718
Small rearrangement
Ts
G->A
1   
c.IVS40-2A>G (c.5740-2A>G)
41
1914
Small rearrangement
Ts
A->G
3   
c.IVS40-2A>T (c.5740-2A>T)
41
1914
Small rearrangement
Tv
A->T
1   
c.IVS41+2T>C (c.5922+2T>C)
41
1974
Small rearrangement
Ts
T->C
1   
c.IVS43+1G>T (c.6290+1G>T)
43-44
2097
Small rearrangement
Tv
G->T
1   
c.IVS43+2T>C (c.6290+2T>C)
43-44
2097
Small rearrangement
Ts
T->C
1   
c.IVS43+5del1 (c.6290+5del1)
43-44
2097
Small rearrangement
Tv
del1
2   
c.IVS44-1G>A (c.6439-1G>A)
45
2147
Small rearrangement
Ts
G->A
2   
c.IVS44-2A>G (c.6439-2A>G)
45
2147
Small rearrangement
Ts
A->G
1   
c.IVS45+1G>A (c.6614+1G>A)
45-46
2205
Small rearrangement
Ts
G->A
1   
c.IVS47-2A>G (c.6913-2A>G)
48
2305
Small rearrangement
Ts
A->G
1   
c.IVS48+1G>A (c.7098+1G>A)
48
2366
Small rearrangement
Ts
G->A
1   
c.IVS48+1G>T (c.7098+1G>T)
48
2366
Small rearrangement
Tv
G->T
2   
c.IVS50+1G>A (c.7309+1G>A)
50-51
2437
Small rearrangement
Ts
G->A
1   
c.IVS50+2T>A (c.7309+2T>A)
50-51
2437
Small rearrangement
Tv
T->A
1   
c.IVS50-1G>A (c.7310-1G>A)
50-51
2437
Small rearrangement
Ts
G->A
1   
c.IVS51+2T>C (c.7542+2T>C)
51
2514
Small rearrangement
Ts
T->C
1   
c.IVS54+1G>A (c.8027+1G>A)
54-55
2676
Small rearrangement
Ts
G->A
1   
c.IVS55-2A>G (c.8218-2A>G)
56
2740
Small rearrangement
Ts
A->G
1   
c.IVS60-1G>A (c.9085-1G>A)
61
3029
Small rearrangement
Ts
G->A
1   
c.IVS62+1G>A (c.9224+1G>A)
62-63
3075
Small rearrangement
Ts
G->A
2   
c.IVS62+5G>C (c.9224+5G>C)
62-63
3075
Small rearrangement
Tv
G->C
1   
c.IVS62-1G>A (c.9225-1G>A)
62-63
3075
Small rearrangement
Ts
G->A
1   
c.IVS63+2T>A (c.9286+2T>A)
63-64
3096
Small rearrangement
Tv
T->A
1   
c.IVS64+5G>C (c.9361+5G>C)
64-65
3121
Small rearrangement
Tv
G->C
1   
c.IVS64-1G>A (c.9362-1G>A)
64-65
3121
Small rearrangement
Ts
G->A
1   
c.IVS65+1G>A (c.9563+1G>A)
65-66
3188
Small rearrangement
Ts
G->A
5   
c.IVS65-2A>G (c.9564-2A>G)
65-66
3188
Small rearrangement
Ts
A->G
1   
c.IVS65-2A>T (c.9564-2A>T)
65-66
3188
Small rearrangement
Tv
A->T
1   
c.IVS66+1G>A (c.9649+1G>A)
66-67
3217
Small rearrangement
Ts
G->A
4   
c.IVS66-3del7a (c.9650-3del7a)
66-67
3217
Small rearrangement
Tv
del7a
1   
c.IVS67+4del1 (c.9807+4del1)
67
3269
Small rearrangement
Tv
del1
1   
c.IVS67+5G>A (c.9807+5G>A)
67
3269
Small rearrangement
Ts
G->A
1   
c.IVS68+1G>T (c.9974+1G>T)
68-69
3325
Small rearrangement
Tv
G->T
2   
c.IVS69+1G>T (c.10086+1G>T)
69
3362
Small rearrangement
Tv
G->T
3   
c.IVS69+5G>C (c.10086+5G>C)
69
3362
Small rearrangement
Tv
G->C
1   
c.IVS69-2A>T (c.10087-2A>T)
70
3363
Small rearrangement
Tv
A->T
1   
c.IVS70+1G>A (c.10223+1G>A)
70-71
3408
Small rearrangement
Ts
G->A
7   
c.IVS70+2insT (c.10223+2insT)
70-71
3408
Small rearrangement
Tv
insT
2   
c.IVS70+3G>C (c.10223+3G>C)
70-71
3408
Small rearrangement
Tv
G->C
2   
c.IVS70+5G>A (c.10223+5G>A)
70-71
3408
Small rearrangement
Ts
G->A
2   
c.IVS74-2A>G (c.10554-2A>G)
74-75
3518
Small rearrangement
Ts
A->G
1