| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311485 |
| Start |
36592934:36592934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1235A>T |
| AA Mutation |
p.Glu412Val(p.E412V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311485 |
| Start |
36593365:36593365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.804T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000311485 |
| Start |
36592909:36592909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1260C>A |
| AA Mutation |
p.Cys420Ter(p.C420*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |