| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys65GlnfsX17 |
c.192dup |
1 |
65 |
Mismatch binding |
|
Small rearrangement |
|
Stop at 81 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 187 |
4_CF945_---_--- | |
|
- |
|
4 |
|
| p.Lys871delins6AA |
c.2595_2610dup |
15 |
871 |
Helix-turn-helix |
|
Small rearrangement |
|
Ins |
4  |
|
|