| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala80GlyfsX9 |
c.238dup |
4 |
80 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7785 |
TNMD_CN_HOSP#125 | M |
|
CN |
|
0 |
|
| p.Ala80SerfsX9 |
c.238insA |
4 |
80 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1962 |
TNMD_FR#F750300011 | M |
|
FR |
|
0 |
|
| p.Ala1901SerfsX5 |
c.5700dup |
40 |
1901 |
CRD-repeat #15 |
|
Small rearrangement |
|
Stop at 1905 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16989 |
TNMD-US#2310 | M |
|
US |
|
0 |
|
| p.Pro2282TrpfsX10 |
c.6843insATGG |
47 |
2281 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2291 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 979 |
TNMD_CH#37 | M |
|
CH |
|
0 |
|
| p.Ala2986CysfsX12 |
c.8955dup |
60 |
2986 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 2997 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9562 |
TNMD_ES1#OGR | M |
|
ES |
|
0 |
|
| p.Ala3270LeufsX14 |
c.9806_9807dup |
68 |
3270 |
Cystein-rich domain |
|
Small rearrangement |
|
Stop at 3283 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6848 |
TNMD_FR#F691650DB91 | M |
|
FR |
|
0 |
|