| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn39LysfsX5 |
c.116dup |
3 |
39 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 43 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1912 |
TNMD_FR#F756034011 | M |
|
FR |
|
0 |
|
| p.Asn633IlefsX2 |
c.1898insT |
16 |
633 |
CRD-repeat #3 |
|
Small rearrangement |
|
Stop at 634 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1249 |
TNMD_CH#173 | M |
|
CH |
|
0 |
|
| p.Asn824X |
c.2469dup |
20 |
824 |
CRD-repeat #4 |
|
Small rearrangement |
|
Stop at 824 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2934 |
TNMD_FR#F6906502MA1 | M |
|
FR |
|
0 |
|
| p.Asn1813IlefsX3 |
c.5434_5437dup |
38 |
1813 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1815 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3358 |
TNMD_FR#F3431317091 | M |
|
FR |
|
0 |
|
| p.Asn3378LysfsX55 |
c.10133dup |
70 |
3378 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3432 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 293 |
TNMD_BG#17 | M |
|
BG |
|
0 |
|