| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Phe22Phe |
c.66C>T |
1 |
22 |
Mismatch binding |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2806 |
SO_-56793256G08882 | |
|
- |
|
71 |
|
| p.Phe539Phe |
c.1617T>C |
10 |
539 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
T->C |
1  |
|
|
| p.Phe922Phe |
c.2766T>C |
16 |
922 |
MSH3/MSH6 interaction |
|
Small rearrangement |
Ts |
T->C |
4  |
|
|