| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln1855X |
c.5563C>T |
39 |
1855 |
CRD-repeat #14 |
|
Small rearrangement |
Ts |
C->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10833 |
---MD_IT#356 | M |
|
IT |
|
0 |
| 10835 |
---MD_IT#357 | M |
|
IT |
|
0 |
|
| p.Thr1856AsnfsX8 |
c.5565_5568delGACA |
39 |
1855 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1863 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3376 |
---MD_FR#F3423413441 | M |
|
FR |
|
0 |
|