| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro5Arg |
c.14C>G |
1 |
5 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2822 |
SO_-57383087G09004 | |
|
- |
|
71 |
|
| p.Pro616Arg |
c.1847C>G |
12 |
616 |
EXO1 interaction |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|