| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser253Leu |
c.758C>T |
4 |
253 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
C->T |
4  |
|
|
| p.Ser512Leu |
c.1535C>T |
10 |
512 |
Sm3,CH |
|
Small rearrangement |
Ts |
C->T |
2  |
|
|
| p.Ser572Leu |
c.1715C>T |
10 |
572 |
Sm,ASK,CH |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1977 |
01-GR09-F01-970 | Female |
|
UV |
|
0 |
|