| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu26Lys |
c.76G>A |
2 |
26 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 5 |
04-DA25-M09C-947 | Male |
Heterozygous |
LIKELY CAUSAL |
W1074 |
4 |
|
| p.Glu45Lys |
c.133G>A |
2 |
45 |
Sm, NM |
|
Small rearrangement |
Ts |
G->A |
3  |
|
|
| p.Glu179Lys |
c.535G>A |
3 |
179 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1849 |
03-CH01-D10E-940 | Female |
Heterozygous |
CAUSAL |
W1014 |
40 |
|
| p.Glu424Lys |
c.1270G>A |
9 |
424 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1949 |
01-OU01-H01-977 | Male |
|
UV |
W2021-4 |
0 |
|
| p.Glu425Lys |
c.1273G>A |
9 |
425 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 915 |
03-PE18-R15G-939 | Male |
Heterozygous |
UV |
|
0 |
|