| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Met1? |
c.1A>C |
2 |
1 |
Ju, NM, RP |
|
Small rearrangement |
Tv |
A->C |
2  |
|
|
| p.Met1? |
c.1A>T |
2 |
1 |
Ju, NM, RP |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 379 |
03-DU16-E18I-963 | Male |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Met234Leu |
c.700A>T |
4 |
234 |
Ju,Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 618 |
03-GI18-S25L-966 | Female |
Heterozygous |
UV |
|
0 |
|
| p.Met322Leu |
c.964A>T |
7 |
322 |
NF,NM,RP,FA,HD |
|
Small rearrangement |
Tv |
A->T |
2  |
|
|