| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu2337PhefsX2 |
c.7009_7010dup |
48 |
2337 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2338 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8398 |
---MD_DE#48876CDC-8BF1-4A8 | M |
|
DE |
|
0 |
|
| p.Leu2337X |
c.7010T>G |
48 |
2337 |
CRD-repeat #19 |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5812 |
---MD_FR#F3418510931 | M |
|
FR |
|
0 |
|