| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr106Cys |
c.317A>G |
2 |
106 |
Sm, NM |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1955 |
01-VA12-V05-969 | Female |
|
LIKELY CAUSAL |
W2021-7 |
0 |
|
| p.Tyr268Cys |
c.803A>G |
5 |
268 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|
| p.Tyr351Cys |
c.1052A>G |
8 |
351 |
Ju,NF,Pem,NM,RP,FA,HD |
|
Small rearrangement |
Ts |
A->G |
15  |
|
|