| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251481:9251481(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.442delC |
| AA Mutation |
p.Leu148CysfsTer7(p.L148Cfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000456448 |
| Start |
9252063:9252063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1020G>T |
| AA Mutation |
p.Ter340TyrextTer48(p.*340Yext*48) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OR7E24
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251668:9251668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369925201
|
| CDS Mutation |
c.625G>A |
| AA Mutation |
p.Asp209Asn(p.D209N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251628:9251628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.585C>A |
| AA Mutation |
p.Phe195Leu(p.F195L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251462:9251462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs180840288
|
| CDS Mutation |
c.419G>A |
| AA Mutation |
p.Arg140Gln(p.R140Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251547:9251547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251736:9251736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.693G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000456448 |
| Start |
9251541:9251541(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504delT |
| AA Mutation |
p.Phe168LeufsTer12(p.F168Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|