| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu45Gly |
c.134A>G |
2 |
45 |
Sm, NM |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1669 |
02-DE13-K01D-985 | Female |
Heterozygous |
CAUSAL |
|
37 |
|
| p.Glu195Gly |
c.584A>G |
3 |
195 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
A->G |
5  |
|
|
| p.Glu486Gly |
c.1457A>G |
10 |
486 |
Sm,NM,CH |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1982 |
01-HE14-C01R-005 | Female |
|
LIKELY CAUSAL |
|
0 |
|