| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp220Arg |
c.658T>C |
4 |
220 |
Ju,Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1958 |
03-BO21-S01-972 | Female |
|
LIKELY CAUSAL |
|
0 |
|
| p.Trp341Arg |
c.1021T>C |
7 |
341 |
Ju,NF,Pem,NM,RP,FA,HD |
|
Small rearrangement |
Ts |
T->C |
2  |
|
|
| p.Trp423Arg |
c.1267T>C |
9 |
423 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 827 |
03-MP15-C15L-969 | Female |
Heterozygous |
CAUSAL |
W1026 |
0 |
|
| p.Trp436Arg |
c.1306T>A |
9 |
436 |
Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
T->A |
2  |
|
|