| 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 |
---MD_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 |
---MD_FR#F750300011 | M |
|
FR |
|
0 |
|