| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala87Thr |
c.259G>A |
2 |
87 |
Sm, NM |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1703 |
02-DA22-G01E-978 | Female |
Heterozygous |
UV |
|
0 |
|
| p.Ala403Thr |
c.1207G>A |
9 |
403 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1930 |
01-QU05-E12-978 | Female |
|
UV |
W2020-3 |
0 |
|