| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp126X |
c.378G>A |
2 |
126 |
Sm, NM |
|
Small rearrangement |
Ts |
G->A |
4  |
|
|
| p.Trp265X |
c.794G>A |
5 |
265 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|
| p.Trp265X |
c.795G>A |
5 |
265 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
G->A |
6  |
|
|
| p.Trp436X |
c.1308G>A |
9 |
436 |
Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
G->A |
12  |
|
|
| p.Trp471X |
c.1413G>A |
10 |
471 |
Pem,NM,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1213 |
03-RO21-L01U-965 | Female |
Heterozygous |
CAUSAL |
|
32 |
|