| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys1615X |
c.4843A>T |
34 |
1615 |
CRD-repeat #12 |
|
Small rearrangement |
Tv |
A->T |
3  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17341 |
---MD-US#3572 | M |
|
US |
|
0 |
| 17159 |
---MD-US#2632 | M |
|
US |
|
0 |
| 17027 |
---MD-US#2372 | M |
|
US |
|
0 |
|
|
c.IVS34+2T>C (c.4845+2T>C) |
34 |
1615 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8774 |
---MD_DE#88969800-14F2-422 | M |
|
DE |
|
0 |
|