| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly214Ser |
c.640G>A |
3 |
214 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
G->A |
3  |
|
|
| p.Gly505Ser |
c.1513G>A |
10 |
505 |
Sm3,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1596 |
02-YI14-P01U-964 | Female |
Heterozygous |
UV |
|
0 |
|