| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu2890Lys |
c.8668G>A |
58-59 |
2890 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10423 |
---MD_IT#32 | M |
|
IT |
|
0 |
| 6604 |
---MD_FR#F7510084011 | M |
|
FR |
|
0 |
|
|
c.IVS58+1delG (c.8668+1delG) |
58-59 |
2890 |
|
|
Small rearrangement |
Tv |
delG |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7311 |
---MD_CN_HOSP#367 | M |
|
CN |
|
0 |
|
|
c.IVS58+1G>C (c.8668+1G>C) |
58-59 |
2890 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13439 |
---#D200 | M |
|
NL |
|
0 |
|
|
c.IVS58-2A>G (c.8669-2A>G) |
58-59 |
2890 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13563 |
---#D291 | M |
|
NL |
|
0 |
|