| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261196 |
| Start |
20875372:20875372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.865G>T |
| AA Mutation |
p.Glu289Ter(p.E289*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20875332:20875333(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs765917931
|
| CDS Mutation |
c.833dupT |
| AA Mutation |
p.Pro280AlafsTer6(p.P280Afs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLCO1B3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20875361:20875361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.854A>C |
| AA Mutation |
p.Lys285Thr(p.K285T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20862552:20862552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.622T>C |
| AA Mutation |
p.Tyr208His(p.Y208H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20861112:20861112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.455G>A |
| AA Mutation |
p.Gly152Glu(p.G152E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20858494:20858494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762672865
|
| CDS Mutation |
c.282G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20883603:20883604(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1682+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|