| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp172Tyr |
c.514G>T |
3 |
172 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 481 |
03-CO12-M01R-953 | Female |
Heterozygous |
CAUSAL |
W1020 |
3 |
|
| p.Asp418Tyr |
c.1252G>T |
9 |
418 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1948 |
04-SE07-V01-969 | Female |
|
CAUSAL |
|
0 |
|