| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349552 |
| Start |
33031696:33031696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761397117
|
| CDS Mutation |
c.49C>T |
| AA Mutation |
p.Arg17Ter(p.R17*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000349552 |
| Start |
33037739:33037739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.846+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BPIFB6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349552 |
| Start |
33037610:33037610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202105575
|
| CDS Mutation |
c.718G>A |
| AA Mutation |
p.Gly240Arg(p.G240R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349552 |
| Start |
33039430:33039430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.984C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|