| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389201 |
| Start |
50517838:50517838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776283499
|
| CDS Mutation |
c.1875C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389201 |
| Start |
50518795:50518795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.918G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389201 |
| Start |
50518630:50518630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1083C>A |
| AA Mutation |
p.Cys361Ter(p.C361*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |