| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Met124IlefsX18 |
c.372delG |
6 |
124 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 141 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2098 |
TNMD_FR#F750334011 | M |
|
FR |
|
0 |
|
| p.Met230SerfsX14 |
c.689delT |
8 |
230 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 243 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2366 |
TNMD_FR#F757013011 | M |
|
FR |
|
0 |
|
| p.Met3110GlufsX12 |
c.9328_9337del |
64 |
3110 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3121 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6742 |
TNMD_FR#F758065011 | M |
|
FR |
|
0 |
|
| p.Met3392TrpfsX10 |
c.10174delA |
70 |
3392 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3401 |
2  |
|
|