| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222115 |
| Start |
51714017:51714017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1147T>C |
| AA Mutation |
p.Tyr383His(p.Y383H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222115 |
| Start |
51713826:51713826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746209555
|
| CDS Mutation |
c.1338G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222115 |
| Start |
51717046:51717046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.850C>T |
| AA Mutation |
p.Arg284Ter(p.R284*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |