| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser38Phe |
c.113C>T |
2 |
38 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1479 |
01-DO21-L21C-939 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|
| p.Ser178Phe |
c.533C>T |
3 |
178 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 520 |
03-OU22-E20I-995 | Male |
Heterozygous |
UV |
|
0 |
|