| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18849397:18849397(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1411delC |
| AA Mutation |
p.Leu471CysfsTer5(p.L471Cfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18841739:18841740(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1580dupA |
| AA Mutation |
p.Asn527LysfsTer4(p.N527Kfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TAS1R2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18849493:18849493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773946846
|
| CDS Mutation |
c.1315G>A |
| AA Mutation |
p.Asp439Asn(p.D439N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18854584:18854584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.886G>A |
| AA Mutation |
p.Ala296Thr(p.A296T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18854518:18854518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.952C>T |
| AA Mutation |
p.His318Tyr(p.H318Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18854793:18854793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777052368
|
| CDS Mutation |
c.677G>A |
| AA Mutation |
p.Arg226His(p.R226H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375371 |
| Start |
18840160:18840160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1959C>A |
| AA Mutation |
p.Phe653Leu(p.F653L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|