| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly42Cys |
c.124G>T |
2 |
42 |
Sm, NM |
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 10 |
04-SI12-B18I-996 | Male |
Heterozygous |
LIKELY CAUSAL |
W1103 |
0 |
| 240 |
03-SI12-A18M-968 | Female |
Heterozygous |
LIKELY CAUSAL |
W1103 |
0 |
|
| p.Gly156Cys |
c.466G>T |
3 |
156 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
5  |
|
|
| p.Gly532Cys |
c.1594G>T |
10 |
532 |
Sm3,CH |
|
Small rearrangement |
Tv |
G->T |
7  |
|
|