| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly42Val |
c.125G>T |
2 |
42 |
Sm, NM |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 427 |
03-AV09-S05V-986 | Female |
Heterozygous |
LIKELY CAUSAL |
|
0 |
|
| p.Gly156Val |
c.467G>T |
3 |
156 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
2  |
|
|
| p.Gly187Val |
c.560G>T |
3 |
187 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
2  |
|
|
| p.Gly505Val |
c.1514G>T |
10 |
505 |
Sm3,CH |
|
Small rearrangement |
Tv |
G->T |
2  |
|
|