| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly156Asp |
c.467G>A |
3 |
156 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
G->A |
3  |
|
|
| p.Gly305Asp |
c.914G>A |
7 |
305 |
NF,Pem,NM,RP,NMH,FA,HD |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|
| p.Gly419Asp |
c.1256G>A |
9 |
419 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 924 |
03-LE03-J05R-979 | Male |
Heterozygous |
UV |
|
0 |
|