| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg14Cys |
c.40C>T |
2 |
14 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1983 |
04-PI03-C05-981 | Female |
|
UV |
|
0 |
|
| p.Arg21Cys |
c.61C>T |
2 |
21 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1952 |
04-PO07-M01R-969 | Female |
|
UV |
|
0 |
|
| p.Arg229Cys |
c.685C>T |
4 |
229 |
Ju,Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
C->T |
2  |
|
|