| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317091 |
| Start |
66942718:66942718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768040510
|
| CDS Mutation |
c.1545G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317091 |
| Start |
66938046:66938046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.278C>G |
| AA Mutation |
p.Ser93Ter(p.S93*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317091 |
| Start |
66942697:66942697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1524G>A |
| AA Mutation |
p.Trp508Ter(p.W508*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |