| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392027 |
| Start |
232380678:232380678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.921C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000392027 |
| Start |
232380305:232380305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.777G>A |
| AA Mutation |
p.Trp259Ter(p.W259*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000392027 |
| Start |
232379199:232379199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775948634
|
| CDS Mutation |
c.194-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |