| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301146 |
| Start |
40881631:40881631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200907719
|
| CDS Mutation |
c.301C>T |
| AA Mutation |
p.Arg101Ter(p.R101*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301146 |
| Start |
40878867:40878867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.724C>T |
| AA Mutation |
p.Gln242Ter(p.Q242*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CYP2A7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40881637:40881637(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295A>C |
| AA Mutation |
p.Ser99Arg(p.S99R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40877911:40877911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373592664
|
| CDS Mutation |
c.914C>T |
| AA Mutation |
p.Thr305Met(p.T305M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40876662:40876662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs545294956
|
| CDS Mutation |
c.1168G>A |
| AA Mutation |
p.Glu390Lys(p.E390K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40878821:40878821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758994683
|
| CDS Mutation |
c.770G>A |
| AA Mutation |
p.Arg257His(p.R257H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40878927:40878927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664A>G |
| AA Mutation |
p.Met222Val(p.M222V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301146 |
| Start |
40877259:40877259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141946981
|
| CDS Mutation |
c.1092C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|