| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS5-1G>A (c.358-1G>A) |
6 |
120 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2074 |
---MD_FR#F3406114141 | M |
|
FR |
|
0 |
|
|
c.IVS5-1G>T (c.358-1G>T) |
6 |
120 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8564 |
---MD_DE#65192FD8-8097-453 | M |
|
DE |
|
0 |
|
|
c.IVS5-2A>G (c.358-2A>G) |
6 |
120 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2086 |
---MD_FR#F3425414741 | M |
|
FR |
|
0 |
|