| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS6+2T>C (c.530+2T>C) |
6-7 |
177 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2134 |
---MD_FR#F3450825041 | M |
|
FR |
|
0 |
|
|
c.IVS6+2T>G (c.530+2T>G) |
6-7 |
177 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18808 |
---MD_NZ#128 | M |
|
NZ |
|
0 |
|
|
c.IVS6-16T>A (c.531-16T>A) |
6-7 |
177 |
|
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13185 |
---#D006 | M |
|
NL |
|
0 |
|
|
c.IVS6-1G>T (c.531-1G>T) |
6-7 |
177 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2152 |
---MD_FR#F751755011 | M |
|
FR |
|
0 |
|
|
c.IVS6-2A>C (c.531-2A>C) |
6-7 |
177 |
|
|
Small rearrangement |
Tv |
A->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17105 |
---MD-US#2530 | M |
|
US |
|
0 |
|