| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS66+1G>A (c.9649+1G>A) |
66-67 |
3217 |
|
|
Small rearrangement |
Ts |
G->A |
4  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6820 |
---MD_FR#F372256004191 | M |
|
FR |
|
0 |
| 6826 |
---MD_FR#F754205111 | M |
|
FR |
|
0 |
| 6824 |
---MD_FR#F754205011 | M |
|
FR |
|
0 |
| 6822 |
---MD_FR#F750944011 | M |
|
FR |
|
0 |
|
|
c.IVS66+6T>C (c.9649+6T>C) |
66-67 |
3217 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8108 |
---MD_DE#0F2C4766-3321-4DE | M |
|
DE |
|
0 |
|