| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS47-2A>G (c.6913-2A>G) |
48 |
2305 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5502 |
---MD_FR#F3424013661 | M |
|
FR |
|
0 |
|
|
c.IVS47-4037T>G (c.6913-4037T>G) |
48 |
2305 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16769 |
---MD-US#1844 | M |
|
US |
|
0 |
|