The
UMD-TREAT_DMD
mutations database
Mid-intronic mutations (22 records)
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
c.IVS1+16C>G (c.31+16C>G)
1-2
11
Small rearrangement
Tv
C->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8550
TNMD_DE#635EFE52-2B88-47A
M
DE
0
c.IVS4-463A>G (c.265-463A>G)
5
89
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18396
TNMD_CZ_SK#MD-B-080
M
CZ
0
c.IVS6-16T>A (c.531-16T>A)
6-7
177
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13185
NL#D006
M
NL
0
c.IVS8-15A>G (c.832-15A>G)
9
278
Small rearrangement
Ts
A->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2376
TNMD_FR#F3415119811
M
FR
0
2374
TNMD_FR#F3415109671
M
FR
0
c.IVS15+601A>G (c.1812+601A>G)
15
604
Small rearrangement
Ts
A->G
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
222
TNMD_BE_AR#13
M
BE
0
2730
TNMD_FR#F758964011
M
FR
0
240
TNMD_BE_AR#22
M
BE
0
c.IVS25+2240A>G (c.3432+2240A>G)
25
1144
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13539
NL#D271
M
NL
0
c.IVS34-1469A>G (c.4846-1469A>G)
35
1616
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3288
TNMD_FR#F759992011
M
FR
0
c.IVS40+18T>A (c.5739+18T>A)
40
1913
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17115
TNMD-US#2540
M
US
0
c.IVS40+362A>G (c.5739+362A>G)
40
1913
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8826
TNMD_DE#916A43A4-00F5-41A
M
AT
0
c.IVS47-4037T>G (c.6913-4037T>G)
48
2305
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16769
TNMD-US#1844
M
US
0
c.IVS54+11C>T (c.8027+11C>T)
54-55
2676
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11608
TNMD_JP#20091124-05
M
JP
0
c.IVS55+23A>G (c.8217+23A>G)
55
2739
Small rearrangement
Ts
A->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8566
TNMD_DE#659F1AF1-A820-4EE
M
DE
0
c.IVS60-15519G>T (c.9085-15519G>T)
61
3029
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6676
TNMD_FR#F751600111
M
FR
0
c.IVS62-287C>A (c.9225-287C>A)
62-63
3075
Small rearrangement
Tv
C->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11614
TNMD_JP#20091125-03
M
JP
0
c.IVS62-647A>G (c.9225-647A>G)
62-63
3075
Small rearrangement
Ts
A->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6724
TNMD_FR#F755539011
M
FR
0
13639
NL#D345
M
NL
0
c.IVS65+1215A>G (c.9563+1215A>G)
65-66
3188
Small rearrangement
Ts
A->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6788
TNMD_FR#F752753011
M
FR
0
6786
TNMD_FR#F751913011
M
FR
0
c.IVS65-427T>G (c.9564-427T>G)
65-66
3188
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18432
TNMD_CZ_SK#DMD-080930M-SH
M
CZ
0