| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244513 |
| Start |
26501610:26501610(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104delC |
| AA Mutation |
p.Pro35ArgfsTer75(p.P35Rfs*75) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000244513 |
| Start |
26508569:26508569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755009512
|
| CDS Mutation |
c.976C>T |
| AA Mutation |
p.Arg326Ter(p.R326*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BTN1A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244513 |
| Start |
26508713:26508713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778400918
|
| CDS Mutation |
c.1120G>A |
| AA Mutation |
p.Val374Met(p.V374M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000244513 |
| Start |
26508797:26508797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1204G>T |
| AA Mutation |
p.Gly402Trp(p.G402W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000244513 |
| Start |
26501858:26501858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.348C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|