| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln24His |
c.72G>C |
1 |
24 |
Mismatch binding |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Gln252His |
c.756G>T |
4 |
252 |
Connector |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2486 |
SO_-3200---G03554 | |
|
- |
|
71 |
|