| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro69Pro |
c.207G>C |
1 |
69 |
Mismatch binding |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2577 |
SO_-4176---G06216 | |
|
- |
|
71 |
|
| p.Pro196Pro |
c.588A>G |
3 |
196 |
Connector |
|
Small rearrangement |
Ts |
A->G |
1  |
|
|