| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr197Ile |
c.590C>T |
3 |
197 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1937 |
04-CA19-L05-000 | Female |
|
UV |
|
0 |
|
| p.Thr210Ile |
c.629C>T |
3 |
210 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1876 |
04-PE19-J05A-933 | Female |
Heterozygous |
UV |
|
0 |
|