| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln562X |
c.1684C>T |
14 |
562 |
CRD-repeat #3 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12638 |
---MD_JP#20111003-01 | M |
|
JP |
|
0 |
|
| p.Gln562AsnfsX21 |
c.1684delC |
14 |
562 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2710 |
---MD_FR#F3431517201 | M |
|
FR |
|
0 |
|