| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu56Ala |
c.167A>C |
1 |
56 |
Mismatch binding |
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2793 |
SO_-56603235G08830 | |
|
- |
|
71 |
|
| p.Glu364Ala |
c.1091A>C |
7 |
364 |
Lever |
|
Small rearrangement |
Tv |
A->C |
1  |
|
|