| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS26+1G>A (c.3603+1G>A) |
26 |
1201 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9597 |
---MD_ES_BCN#9 | M |
|
ES |
|
0 |
|
|
c.IVS26+1G>T (c.3603+1G>T) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17273 |
---MD-US#3310 | M |
|
US |
|
0 |
|
|
c.IVS26+2T>A (c.3603+2T>A) |
26 |
1201 |
|
|
Small rearrangement |
Tv |
T->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3124 |
---MD_FR#F3413109071 | M |
|
FR |
|
0 |
| 13181 |
---#D004 | M |
|
NL |
|
0 |
|