| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258415 |
| Start |
218815015:218815015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1581G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258415 |
| Start |
218812408:218812408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.633C>A |
| AA Mutation |
p.Tyr211Ter(p.Y211*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP27A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258415 |
| Start |
218812325:218812325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550G>C |
| AA Mutation |
p.Asp184His(p.D184H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258415 |
| Start |
218812282:218812282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776260288
|
| CDS Mutation |
c.507G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|