| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357043 |
| Start |
50331651:50331651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587769866
|
| CDS Mutation |
c.680G>A |
| AA Mutation |
p.Arg227His(p.R227H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357043 |
| Start |
50330688:50330688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369888153
|
| CDS Mutation |
c.928C>T |
| AA Mutation |
p.Arg310Cys(p.R310C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357043 |
| Start |
50330593:50330593(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1023C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |