| Mutation ID |
40 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21418570:21418570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1480+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000400546 |
| Start |
21418523:21418524(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1434_1435insTTCACACATTTC |
| AA Mutation |
p.Thr478_Asn479insPheThrHisPhe(p.T478_N479insFTHF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCAM2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21508947:21508947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2174T>G |
| AA Mutation |
p.Phe725Cys(p.F725C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21373890:21373890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1072G>T |
| AA Mutation |
p.Gly358Trp(p.G358W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21284205:21284205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.142C>T |
| AA Mutation |
p.Pro48Ser(p.P48S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
20998585:20998585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.22T>C |
| AA Mutation |
p.Tyr8His(p.Y8H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21335532:21335532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.765G>T |
| AA Mutation |
p.Glu255Asp(p.E255D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21324392:21324392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.629C>A |
| AA Mutation |
p.Ala210Glu(p.A210E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21284337:21284337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566399279
|
| CDS Mutation |
c.274C>T |
| AA Mutation |
p.Arg92Cys(p.R92C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21534634:21534634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2380A>G |
| AA Mutation |
p.Thr794Ala(p.T794A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21410382:21410382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304G>T |
| AA Mutation |
p.Arg435Ile(p.R435I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21338461:21338461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373865162
|
| CDS Mutation |
c.971C>T |
| AA Mutation |
p.Ala324Val(p.A324V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21410301:21410301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1223C>G |
| AA Mutation |
p.Thr408Arg(p.T408R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21292111:21292111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400546 |
| Start |
21373880:21373880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750015611
|
| CDS Mutation |
c.1062C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|