| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser145Ile |
c.434G>T |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1706 |
02-KA18-M01R-969 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|
| p.Ser154Ile |
c.461G>T |
3 |
154 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1956 |
03-DI13-S20-971 | Female |
|
CAUSAL |
|
0 |
|