| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr193Thr |
c.579A>T |
3 |
193 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1970 |
04-LE07-L05-018 | Female |
|
LIKELY NEUTRAL |
|
0 |
|
| p.Thr197Thr |
c.591C>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 |
| 1938 |
04-ME03-S25-976 | Female |
|
NEUTRAL |
|
0 |
|
| p.Thr210Thr |
c.630A>G |
3 |
210 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
A->G |
2  |
|
|