Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EPC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32293058:32293058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.596G>A
AA Mutation p.Arg199Gln(p.R199Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32292590:32292590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.721C>A
AA Mutation p.Leu241Ile(p.L241I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000263062
Start 32284698:32284698(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1744G>T
AA Mutation p.Ala582Ser(p.A582S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32346903:32346903(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13T>C
AA Mutation p.Ser5Pro(p.S5P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32291309:32291309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.829G>A
AA Mutation p.Asp277Asn(p.D277N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32305784:32305784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.301A>G
AA Mutation p.Ile101Val(p.I101V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000263062
Start 32291310:32291310(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146228093
CDS Mutation c.828C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000263062
Start 32271569:32271570(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2422_2423delGT
AA Mutation p.Val808ArgfsTer9(p.V808Rfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000263062
Start 32292584:32292584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.727C>T
AA Mutation p.Arg243Ter(p.R243*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> EPC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263062
Start 32293082:32293082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572T>G
AA Mutation p.Ile191Ser(p.I191S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000263062
Start 32305785:32305785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.300C>A
Mutation Classification Silent
Feature Type Transcript