| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53075233:53075233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2754A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53060983:53060983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1395A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296585 |
| Start |
53080565:53080565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2983C>T |
| AA Mutation |
p.Gln995Ter(p.Q995*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |