| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374695 |
| Start |
21835634:21835634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10359C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374695 |
| Start |
21890116:21890116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.439G>T |
| AA Mutation |
p.Glu147Ter(p.E147*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374695 |
| Start |
21895967:21895967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.200-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |