| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS67+4delA (c.9807+4delA) |
67 |
3269 |
|
|
Small rearrangement |
Tv |
delA |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6844 |
---MD_FR#F3416009621 | M |
|
FR |
|
0 |
|
|
c.IVS67+5G>A (c.9807+5G>A) |
67 |
3269 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6846 |
---MD_FR#F7510101011 | M |
|
FR |
|
0 |
|
|
c.IVS67+6T>G (c.9807+6T>G) |
67 |
3269 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16375 |
---MD-US#1070 | M |
|
US |
|
0 |
|