| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS45+1G>A (c.6614+1G>A) |
45-46 |
2205 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17465 |
---MD-US#3838 | M |
|
US |
|
0 |
|
|
c.IVS45+1G>T (c.6614+1G>T) |
45-46 |
2205 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 147 |
---EAT_NMD_AR#AHGD113 | M |
|
AR |
|
0 |
|
|
c.IVS45+2T>C (c.6614+2T>C) |
45-46 |
2205 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16023 |
---MD-US#457 | M |
|
US |
|
0 |
|
|
c.IVS45-1G>C (c.6615-1G>C) |
45-46 |
2205 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18671 |
---MD_AU#242 | M |
|
AU |
|
0 |
|
|
c.IVS45-2A>T (c.6615-2A>T) |
45-46 |
2205 |
|
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11696 |
---MD_JP#20091222-02 | M |
|
JP |
|
0 |
|