| Mutation ID |
32 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113158070:113158071(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1318+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355995 |
| Start |
112951608:112951609(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.381+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TCF7L2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113165574:113165574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1462C>T |
| AA Mutation |
p.Arg488Cys(p.R488C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113141251:113141251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.620G>T |
| AA Mutation |
p.Ser207Ile(p.S207I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113152333:113152333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1162T>C |
| AA Mutation |
p.Trp388Arg(p.W388R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113146031:113146031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.809C>T |
| AA Mutation |
p.Pro270Leu(p.P270L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113152429:113152429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1258C>T |
| AA Mutation |
p.Arg420Trp(p.R420W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113141316:113141316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.685G>A |
| AA Mutation |
p.Gly229Arg(p.G229R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113165884:113165884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1772A>G |
| AA Mutation |
p.Gln591Arg(p.Q591R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113165873:113165873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1761A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113141252:113141252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.621C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113152362:113152362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776801596
|
| CDS Mutation |
c.1191G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355995 |
| Start |
113152390:113152390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1219C>T |
| AA Mutation |
p.Arg407Ter(p.R407*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355995 |
| Start |
112950826:112950826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.70G>T |
| AA Mutation |
p.Glu24Ter(p.E24*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355995 |
| Start |
113152421:113152421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1250G>A |
| AA Mutation |
p.Trp417Ter(p.W417*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113141290:113141291(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.660dupA |
| AA Mutation |
p.Pro221ThrfsTer107(p.P221Tfs*107) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355995 |
| Start |
113151124:113151124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1001+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|