| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg206Arg |
c.618C>A |
3 |
206 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
C->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1873 |
04-BA21-R21B-011 | Female |
Heterozygous |
LIKELY NEUTRAL |
W2065 |
0 |
| 56 |
04-BA21-C08R-979 | Female |
Heterozygous |
LIKELY NEUTRAL |
W2065 |
0 |
|
| p.Arg218Arg |
c.654G>T |
3 |
218 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Tv |
G->T |
5  |
|
|