| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser145Arg |
c.435C>A |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 297 |
03-CH01-J05A-961 | Male |
Heterozygous |
LIKELY CAUSAL |
W1056 |
0 |
|
| p.Ser145Arg |
c.435C>G |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
Tv |
C->G |
4  |
|
|
| p.Ser427Arg |
c.1279A>C |
9 |
427 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Tv |
A->C |
3  |
|
|
| p.Ser555Arg |
c.1665T>G |
10 |
555 |
Sm3,CH |
|
Small rearrangement |
Tv |
T->G |
2  |
|
|