| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357443 |
| Start |
112692862:112692862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1073A>G |
| AA Mutation |
p.Tyr358Cys(p.Y358C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357443 |
| Start |
112689070:112689070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.273G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357443 |
| Start |
112691753:112691753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.925C>T |
| AA Mutation |
p.Gln309Ter(p.Q309*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |