| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly200Gly |
c.600C>T |
3 |
200 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1898 |
03-ISR-2-1-970 | Unknown |
|
LIKELY CAUSAL |
|
0 |
|
| p.Gly281Gly |
c.843G>C |
6 |
281 |
Pem,NM,NMH,FA,HD |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 107 |
04-RO13-X01V-975 | Male |
Heterozygous |
LIKELY NEUTRAL |
|
0 |
|
| p.Gly386Gly |
c.1158C>T |
8 |
386 |
Ju,Pem,NM,RP,FA,mS,HD |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1974 |
01-DO18-S25-966 | Female |
|
UV |
|
0 |
|
| p.Gly520Gly |
c.1560G>A |
10 |
520 |
Sm3,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1964 |
04-BO19-C08R-951 | Female |
|
UV |
|
0 |
|