| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Met124AsnfsX14 |
c.368dup |
6 |
123 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 137 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2096 |
TNMD_FR#F755494011 | M |
|
FR |
|
0 |
|
| p.Val436GlyfsX3 |
c.1306dup |
11 |
436 |
CRD-repeat #1 |
|
Small rearrangement |
|
Stop at 438 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17261 |
TNMD-US#3275 | M |
|
US |
|
0 |
|
| p.Val515GlyfsX4 |
c.1543dup |
13 |
515 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 518 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2654 |
TNMD_FR#F758641011 | M |
|
FR |
|
0 |
|
| p.Val516GlyfsX3 |
c.1544dup |
13 |
515 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 518 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2652 |
TNMD_FR#F3435218691 | M |
|
FR |
|
0 |
|
| p.Leu1306AlafsX5 |
c.3914dup |
28 |
1305 |
CRD-repeat #9 |
|
Small rearrangement |
|
Stop at 1310 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3176 |
TNMD_FR#F752467011 | M |
|
FR |
|
0 |
|
| p.Pro2470ThrfsX21 |
c.7406dup |
51 |
2469 |
CRD-hinge region #3 |
|
Small rearrangement |
Fr. |
Stop at 2490 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6258 |
TNMD_FR#F758114011 | M |
|
FR |
|
0 |
|
| p.Val3035GlyfsX8 |
c.9097_9103dup |
61 |
3035 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 3042 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6688 |
TNMD_FR#F758179011 | M |
|
FR |
|
0 |
|