| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26481707:26481707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756943348
|
| CDS Mutation |
c.1218C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26489452:26489453(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.144_145insCGAAGATGAAA |
| AA Mutation |
p.Ser49ArgfsTer3(p.S49Rfs*3) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCKAR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26481976:26481976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764715715
|
| CDS Mutation |
c.949G>A |
| AA Mutation |
p.Val317Ile(p.V317I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26485690:26485690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.573G>T |
| AA Mutation |
p.Gln191His(p.Q191H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26481904:26481904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115488558
|
| CDS Mutation |
c.1021G>A |
| AA Mutation |
p.Ala341Thr(p.A341T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295589 |
| Start |
26489472:26489472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.125C>T |
| AA Mutation |
p.Ala42Val(p.A42V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|