| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS20+1G>A (c.2622+1G>A) |
20 |
874 |
|
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11826 |
---MD_JP#20100210-04 | M |
|
JP |
|
0 |
| 2948 |
---MD_FR#F755389011 | M |
|
FR |
|
0 |
|
|
c.IVS20+2T>G (c.2622+2T>G) |
20 |
874 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2946 |
---MD_FR#F6918400C61 | M |
|
FR |
|
0 |
|