| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser145Ser |
c.435C>T |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1845 |
000-000-0000 | |
|
Polymorphism |
|
0 |
|
| p.Ser572Ser |
c.1716G>C |
10 |
572 |
Sm,ASK,CH |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1968 |
03-GU09-G05-943 | Female |
|
UV |
|
0 |
|