| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys1575X |
c.4723A>T |
34 |
1575 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3266 |
---MD_FR#F759637011 | M |
|
FR |
|
0 |
|
| p.Lys1575ArgfsX6 |
c.4724delA |
34 |
1575 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1580 |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11488 |
---MD_JP#20091030-01 | M |
|
JP |
|
0 |
|