| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys233Lys |
c.699G>A |
4 |
233 |
Ju,Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1959 |
03-DZ09-A14-951 | Female |
|
UV |
|
0 |
|
| p.Lys304Lys |
c.912G>A |
6 |
304 |
Pem,NM,RP,NMH,FA,HD |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1946 |
04-VI05-J05-948 | Male |
|
LIKELY CAUSAL |
|
0 |
|
| p.Lys588Lys |
c.1764G>A |
10 |
588 |
Sm,ASK,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1950 |
04-DE20-L09-989 | Female |
|
LIKELY NEUTRAL |
|
0 |
|