| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS50+1G>A (c.7309+1G>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6122 |
---MD_FR#F3411407151 | M |
|
FR |
|
0 |
|
|
c.IVS50+2T>A (c.7309+2T>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6232 |
---MD_FR#F758746011 | M |
|
FR |
|
0 |
|
|
c.IVS50-1G>A (c.7310-1G>A) |
50-51 |
2437 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6110 |
---MD_FR#F69218116m1 | M |
|
FR |
|
0 |
|
|
c.IVS50-2A>G (c.7310-2A>G) |
50-51 |
2437 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13645 |
---#D348 | M |
|
NL |
|
0 |
|