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/ Colorectal Cancer-Mutation
Primary Site >> Colorectal Cancer
Overview
Mutation
Expression
Methylation
Prognosis
Literature
Timeline
Colon Cancer: Gene >> EPAS1
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46380500:46380500(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1828G>A
AA Mutation
p.Asp610Asn(p.D610N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46378696:46378696(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs765477973
CDS Mutation
c.1483G>A
AA Mutation
p.Asp495Asn(p.D495N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46347042:46347042(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.196A>G
AA Mutation
p.Thr66Ala(p.T66A)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46375774:46375774(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs766854881
CDS Mutation
c.971C>T
AA Mutation
p.Thr324Met(p.T324M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46382428:46382428(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.2291A>T
AA Mutation
p.Lys764Met(p.K764M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46356227:46356227(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.294C>A
AA Mutation
p.Phe98Leu(p.F98L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000263734
Start
46356769:46356769(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.415G>A
AA Mutation
p.Asp139Asn(p.D139N)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000263734
Start
46384612:46384612(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs756321544
CDS Mutation
c.2565G>A
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000263734
Start
46381719:46381719(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs755176702
CDS Mutation
c.2169C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000263734
Start
46382549:46382549(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs749238196
CDS Mutation
c.2412C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
stop_gained
Transcription ID
ENST00000263734
Start
46347018:46347018(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.172C>T
AA Mutation
p.Arg58Ter(p.R58*)
Mutation Classification
Nonsense_Mutation
Feature Type
Transcript
Rectum Cancer: Gene >> EPAS1
No Mutation Annotation!