| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS55+23A>G (c.8217+23A>G) |
55 |
2739 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8566 |
---MD_DE#659F1AF1-A820-4EE | M |
|
DE |
|
0 |
|
|
c.IVS55+5G>A (c.8217+5G>A) |
55 |
2739 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12402 |
---MD_JP#20110225-01 | M |
|
JP |
|
0 |
|