| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln945X |
c.2833C>T |
22 |
945 |
CRD-repeat #6 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3026 |
---MD_FR#F3430917021 | M |
|
FR |
|
0 |
|
| p.Gln945ArgfsX4 |
c.2833delC |
22 |
945 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 948 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7843 |
---MD_CN_HOSP#96 | M |
|
CN |
|
0 |
|