| 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.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.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.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.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.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.Gly2983X |
c.8947G>T |
60 |
2983 |
CRD-repeat #24 |
|
Small rearrangement |
Tv |
G->T |
2  |
|
|