| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys891X |
c.2671A>T |
21 |
891 |
CRD-repeat #5 |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8842 |
---MD_DE#943CC907-48BA-4CD | M |
|
DE |
|
0 |
|
| p.Lys891AsnfsX28 |
c.2673_2674delAA |
21 |
891 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 918 |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12962 |
---MD_JP#20120926-01 | M |
|
JP |
|
0 |
|