| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu259AlafsX11 |
c.773dup |
4 |
258 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Fr. |
Stop at 269 |
3  |
|
|
| p.Ser443ValfsX6 |
c.1325dup |
9 |
442 |
Pem,NM,RP,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 448 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 905 |
03-BE14-S01M-978 | Female |
Heterozygous |
CAUSAL |
|
0 |
|