| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly25CysfsX30 |
c.73_100del |
1 |
25 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 54 |
1  |
|
|
| p.Gly40AlafsX24 |
c.119delG |
1 |
40 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
15  |
|
|
| p.Gly250GlufsX4 |
c.749delG |
4 |
250 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 253 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2357 |
SO_-2088---G00872 | |
|
- |
|
71 |
|