| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS68+1G>C (c.9974+1G>C) |
68-69 |
3325 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12080 |
---MD_JP#20100706-02 | M |
|
JP |
|
0 |
|
|
c.IVS68+1G>T (c.9974+1G>T) |
68-69 |
3325 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6868 |
---MD_FR#F757898111 | M |
|
FR |
|
0 |
| 6866 |
---MD_FR#F757898011 | M |
|
FR |
|
0 |
|
|
c.IVS68-2A>G (c.9975-2A>G) |
68-69 |
3325 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12560 |
---MD_JP#20110711-01 | M |
|
JP |
|
0 |
|