| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.His46ArgfsX35 |
c.135_136delGC |
1 |
45 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 80 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3060 |
4_07173225052597 | |
|
- |
|
4 |
|
| p.Ala309ProfsX22 |
c.925delG |
5 |
309 |
EXO1 stabilization |
|
Small rearrangement |
Fr. |
Stop at 330 |
1  |
|
|