| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg55GlyfsX9 |
c.163delC |
1 |
55 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 976 |
31_H10_H10_1_H10_1_A | |
|
- |
|
31 |
|
| p.Arg99SerfsX2 |
c.297_298delAG |
2 |
99 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 100 |
2  |
|
|
| p.Arg752GlufsX11 |
c.2254delA |
14 |
752 |
ATPase |
|
Small rearrangement |
Fr. |
Stop at 762 |
4  |
|
|