| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS54+11C>T (c.8027+11C>T) |
54-55 |
2676 |
|
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11608 |
---MD_JP#20091124-05 | M |
|
JP |
|
0 |
|
|
c.IVS54+1G>A (c.8027+1G>A) |
54-55 |
2676 |
|
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13661 |
---#D357 | M |
|
NL |
|
0 |
| 6500 |
---MD_FR#F3428816151 | M |
|
FR |
|
0 |
|
|
c.IVS54+1G>T (c.8027+1G>T) |
54-55 |
2676 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13595 |
---#D312 | M |
|
NL |
|
0 |
| 13593 |
---#D311 | M |
|
NL |
|
0 |
|