| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu173Pro |
c.518T>C |
3 |
173 |
Connector |
|
Small rearrangement |
Ts |
T->C |
4  |
|
|
| p.Leu330Pro |
c.989T>C |
6 |
330 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2398 |
SO_-1308---G01571 | |
|
- |
|
71 |
|
| p.Leu341Pro |
c.1022T>C |
6 |
341 |
EXO1 stabilization |
|
Small rearrangement |
Ts |
T->C |
92  |
|
|
| p.Leu602Pro |
c.1805T>C |
12 |
602 |
Lever |
|
Small rearrangement |
Ts |
T->C |
2  |
|
|