| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233939097:233939097(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.452delG |
| AA Mutation |
p.Gly151AlafsTer7(p.G151Afs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233930667:233930667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPM8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233970223:233970223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201564419
|
| CDS Mutation |
c.2152G>A |
| AA Mutation |
p.Asp718Asn(p.D718N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233970356:233970356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201939575
|
| CDS Mutation |
c.2285C>T |
| AA Mutation |
p.Ser762Leu(p.S762L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233980278:233980278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151304365
|
| CDS Mutation |
c.2446C>T |
| AA Mutation |
p.Arg816Trp(p.R816W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233963285:233963285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754995244
|
| CDS Mutation |
c.1657G>A |
| AA Mutation |
p.Val553Met(p.V553M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233961040:233961040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200707338
|
| CDS Mutation |
c.1627C>T |
| AA Mutation |
p.Arg543Trp(p.R543W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233937462:233937462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149029668
|
| CDS Mutation |
c.301G>A |
| AA Mutation |
p.Asp101Asn(p.D101N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233939138:233939138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489G>T |
| AA Mutation |
p.Lys163Asn(p.K163N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233983168:233983168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777642177
|
| CDS Mutation |
c.2705C>T |
| AA Mutation |
p.Ser902Leu(p.S902L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
234008081:234008081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139759512
|
| CDS Mutation |
c.3242G>A |
| AA Mutation |
p.Arg1081Gln(p.R1081Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233964749:233964749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201008719
|
| CDS Mutation |
c.1871G>A |
| AA Mutation |
p.Arg624Gln(p.R624Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233950011:233950011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs530123743
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233955188:233955188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1300C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324695 |
| Start |
233996440:233996440(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138108187
|
| CDS Mutation |
c.3054C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|