| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val123AsnfsX14 |
c.367_368delGT |
6 |
123 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 136 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 478 |
---MD_CA_DM#32 | M |
|
CA |
|
0 |
|
| 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 |
---MD_FR#F755494011 | M |
|
FR |
|
0 |
|