| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr2144LeufsX3 |
c.6430dup |
44 |
2144 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2146 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11378 |
---MD_JP#20090928-07 | M |
|
JP |
|
0 |
|
| p.Tyr2144X |
c.6432T>A |
44 |
2144 |
CRD-repeat #17 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13004 |
---MD_JP#20121029-02 | M |
|
JP |
|
0 |
|