| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS62+1G>A (c.9224+1G>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
G->A |
3  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6726 |
---MD_FR#F750558011 | M |
|
FR |
|
0 |
| 6718 |
---MD_FR#F690970CL71 | M |
|
FR |
|
0 |
| 17001 |
---MD-US#2330 | M |
|
US |
|
0 |
|
|
c.IVS62+5G>C (c.9224+5G>C) |
62-63 |
3075 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6710 |
---MD_FR#F3429216691 | M |
|
FR |
|
0 |
|
|
c.IVS62-10T>A (c.9225-10T>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12222 |
---MD_JP#20101012-01 | M |
|
JP |
|
0 |
|
|
c.IVS62-1G>A (c.9225-1G>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6722 |
---MD_FR#F751463011 | M |
|
FR |
|
0 |
|
|
c.IVS62-287C>A (c.9225-287C>A) |
62-63 |
3075 |
|
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11614 |
---MD_JP#20091125-03 | M |
|
JP |
|
0 |
|
|
c.IVS62-2A>C (c.9225-2A>C) |
62-63 |
3075 |
|
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11922 |
---MD_JP#20100316-06 | M |
|
JP |
|
0 |
|
|
c.IVS62-647A>G (c.9225-647A>G) |
62-63 |
3075 |
|
|
Small rearrangement |
Ts |
A->G |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6724 |
---MD_FR#F755539011 | M |
|
FR |
|
0 |
| 13639 |
---#D345 | M |
|
NL |
|
0 |
|