| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys471Asn |
c.1413A>C |
9 |
471 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->C |
2  |
|
|
| p.Lys567Asn |
c.1701A>T |
11 |
567 |
EXO1 stabilization |
|
Small rearrangement |
Tv |
A->T |
1  |
|
|
| p.Lys627Asn |
c.1881A>C |
12 |
627 |
ATPase |
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 186 |
4_B9707_---_--- | |
|
- |
|
4 |
|