| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser3225GlnfsX58 |
c.9673delT |
67 |
3225 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3282 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6838 |
---MD_FR#F37C139007111 | M |
|
FR |
|
0 |
|
| p.Ser3225ValfsX6 |
c.9673insG |
67 |
3225 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3230 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6836 |
---MD_FR#F3449524361 | M |
|
FR |
|
0 |
|