| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp183Cys |
c.549G>C |
3 |
183 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 43 |
04-EL11-M15R-978 | Male |
Heterozygous |
CAUSAL |
|
42 |
|
| p.Trp423Cys |
c.1269G>C |
9 |
423 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 934 |
03-AU02-F12O-968 | Female |
Heterozygous |
LIKELY CAUSAL |
W1113 |
0 |
|
| p.Trp423Cys |
c.1269G>T |
9 |
423 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 929 |
03-PE18-M15N-947 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|