| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu39Trp |
c.116T>G |
2 |
39 |
Ju, NM, RP |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 337 |
03-BR21-A14E-952 | Female |
Heterozygous |
CAUSAL |
W125 |
9 |
|
| p.Leu152Trp |
c.455T>G |
3 |
152 |
Ju, Sm,NM,HD |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 450 |
03-ME20-J15S-957 | Female |
Heterozygous |
LIKELY CAUSAL |
W1086 |
22 |
|