| Mutation ID |
38 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31046234:31046234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1699-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000397795 |
| Start |
31076919:31076919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770561064
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31026977:31026977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200369359
|
| CDS Mutation |
c.3368G>A |
| AA Mutation |
p.Arg1123His(p.R1123H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31002084:31002084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543202406
|
| CDS Mutation |
c.4550G>A |
| AA Mutation |
p.Arg1517Gln(p.R1517Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31032726:31032726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2849A>C |
| AA Mutation |
p.Lys950Thr(p.K950T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31042211:31042211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1761G>T |
| AA Mutation |
p.Lys587Asn(p.K587N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31070084:31070084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.160G>A |
| AA Mutation |
p.Asp54Asn(p.D54N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31042184:31042184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759540459
|
| CDS Mutation |
c.1788C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397795 |
| Start |
31002814:31002814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3820C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|