| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS61+1G>A (c.9163+1G>A) |
61-62 |
3055 |
|
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11646 |
---MD_JP#20091207-04 | M |
|
JP |
|
0 |
| 1229 |
---MD_CH#163 | M |
|
CH |
|
0 |
|
|
c.IVS61+2T>G (c.9163+2T>G) |
61-62 |
3055 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17437 |
---MD-US#3770 | M |
|
US |
|
0 |
|
|
c.IVS61-2A>G (c.9164-2A>G) |
61-62 |
3055 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12654 |
---MD_JP#20111011-01 | M |
|
JP |
|
0 |
|