| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln2972SerfsX18 |
c.8912_8913dup |
59 |
2972 |
CRD-repeat #24 |
|
Small rearrangement |
|
Stop at 2989 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6634 |
---MD_FR#F3437819441 | M |
|
FR |
|
0 |
|
| p.Gln2972X |
c.8914C>T |
59 |
2972 |
CRD-repeat #24 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6632 |
---MD_FR#F3408906051 | M |
|
FR |
|
0 |
|