| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln24ArgfsX40 |
c.66delC |
1 |
22 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
1  |
|
|
| p.Phe37SerfsX27 |
c.110delT |
1 |
37 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
9  |
|
|
| p.Tyr43IlefsX21 |
c.126delC |
1 |
42 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 63 |
3  |
|
|
| p.Phe88LeufsX2 |
c.264delT |
2 |
88 |
Mismatch binding |
|
Small rearrangement |
Fr. |
Stop at 89 |
4  |
|
|
| p.Ser233HisfsX22 |
c.696_697delTT |
4 |
232 |
Connector |
|
Small rearrangement |
Fr. |
Stop at 254 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2671 |
SO_-5046---G07666 | |
|
- |
|
71 |
|