| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr1882X |
c.5646C>A |
40 |
1882 |
CRD-repeat #15 |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9587 |
---MD_ES_BCN#3 | M |
|
ES |
|
0 |
|
| p.Tyr1882X |
c.5646C>G |
40 |
1882 |
CRD-repeat #15 |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15255 |
---MD_UK#109 | M |
|
UK |
|
0 |
|