| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309311 |
| Start |
3981967:3981967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.877A>G |
| AA Mutation |
p.Ile293Val(p.I293V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309311 |
| Start |
3980042:3980042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1371C>A |
| AA Mutation |
p.Tyr457Ter(p.Y457*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309311 |
| Start |
3980042:3980042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1371C>G |
| AA Mutation |
p.Tyr457Ter(p.Y457*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |