| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.His46Gln |
c.138C>G |
1 |
46 |
Mismatch binding |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3057 |
14_13C028913C0289 | |
|
- |
|
14 |
|
| p.His839Gln |
c.2517T>A |
15 |
839 |
ATPase |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2705 |
SO_-5215---G07950 | |
|
- |
|
71 |
|