| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr33Ala |
c.97A>G |
1 |
33 |
Mismatch binding |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 243 |
4_13_17487_--- | |
|
- |
|
4 |
|
| p.Thr320Ala |
c.958A>G |
6 |
320 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2295 |
7_2398270E2K249 | |
|
- |
|
7 |
|