| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser429X |
c.1286C>A |
11 |
429 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
C->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15951 |
---MD-US#349 | M |
|
US |
|
0 |
| 17215 |
---MD-US#2834 | M |
|
US |
|
0 |
|
| p.Ser429X |
c.1286C>G |
11 |
429 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2538 |
---MD_FR#F757608011 | M |
|
FR |
|
0 |
|