| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg171Gln |
c.512G>A |
3 |
171 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1846 |
| |
|
NEUTRAL |
|
0 |
| 1504 |
02-MI18-N01D-946 | Female |
Heterozygous |
NEUTRAL |
|
0 |
|
| p.Arg516Gln |
c.1547G>A |
10 |
516 |
Sm3,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1285 |
03-FR21-F12O-984 | Male |
Heterozygous |
UV |
|
0 |
|
| p.Arg605Gln |
c.1814G>A |
10 |
605 |
Sm,ASK,CH |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1705 |
02-DR15-A18N-962 | Male |
Heterozygous |
UV |
|
0 |
|