| Mutation ID |
47 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366787 |
| Start |
169226284:169226284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757104686
|
| CDS Mutation |
c.2434C>T |
| AA Mutation |
p.Arg812Ter(p.R812*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169226299:169226299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2420-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> THBS2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169241877:169241877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200708283
|
| CDS Mutation |
c.776C>T |
| AA Mutation |
p.Ser259Leu(p.S259L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169223305:169223305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2944C>T |
| AA Mutation |
p.Arg982Cys(p.R982C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169229654:169229654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2177C>A |
| AA Mutation |
p.Ser726Tyr(p.S726Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169248497:169248497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.529G>A |
| AA Mutation |
p.Glu177Lys(p.E177K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169240508:169240508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.976T>G |
| AA Mutation |
p.Phe326Val(p.F326V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169220207:169220207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3502G>A |
| AA Mutation |
p.Glu1168Lys(p.E1168K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169222320:169222320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3150G>T |
| AA Mutation |
p.Trp1050Cys(p.W1050C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169223344:169223344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2905C>T |
| AA Mutation |
p.Pro969Ser(p.P969S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169228151:169228151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2390A>G |
| AA Mutation |
p.Asp797Gly(p.D797G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169225320:169225320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770837780
|
| CDS Mutation |
c.2598C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169241885:169241885(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.768C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169232079:169232079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776371244
|
| CDS Mutation |
c.2052C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366787 |
| Start |
169248687:169248687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.339C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366787 |
| Start |
169226284:169226284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757104686
|
| CDS Mutation |
c.2434C>T |
| AA Mutation |
p.Arg812Ter(p.R812*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|