| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile420Ser |
c.1259T>G |
9 |
420 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 930 |
03-PU12-L01U-961 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|
| p.Ile575Ser |
c.1724T>G |
10 |
575 |
Sm,ASK,CH |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1890 |
04-EQ21-C08R-957 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|