Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> POLI

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54277789:54277789(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745954398
CDS Mutation c.493C>G
AA Mutation p.Leu165Val(p.L165V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293697:54293697(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1453A>C
AA Mutation p.Asn485His(p.N485H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293964:54293964(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1720A>G
AA Mutation p.Lys574Glu(p.K574E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54294409:54294409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2165A>G
AA Mutation p.Lys722Arg(p.K722R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54282879:54282879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.839T>C
AA Mutation p.Ile280Thr(p.I280T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293766:54293766(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779484726
CDS Mutation c.1522A>C
AA Mutation p.Asn508His(p.N508H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293784:54293784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1540G>T
AA Mutation p.Asp514Tyr(p.D514Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54280732:54280732(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759154060
CDS Mutation c.625C>T
AA Mutation p.Arg209Trp(p.R209W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293749:54293749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1505C>T
AA Mutation p.Ser502Phe(p.S502F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54293653:54293653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1409T>C
AA Mutation p.Met470Thr(p.M470T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000579534
Start 54280899:54280899(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.792A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000579534
Start 54293832:54293832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1588G>T
AA Mutation p.Glu530Ter(p.E530*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000579534
Start 54294162:54294162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1918G>T
AA Mutation p.Glu640Ter(p.E640*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000579534
Start 54273967:54273968(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.283_284insAAAA
AA Mutation p.Ala95GlufsTer3(p.A95Efs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 15
Mutation Consequence splice_donor_variant
Transcription ID ENST00000579534
Start 54287413:54287413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1198+2T>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 16
Mutation Consequence inframe_insertion
Transcription ID ENST00000579534
Start 54273968:54273969(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.284_285insATTTAAAGATAT
AA Mutation p.Ala95_Arg96insPheLysAspIle(p.A95_R96insFKDI)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 17
Mutation Consequence inframe_insertion
Transcription ID ENST00000579534
Start 54282931:54282932(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.891_892insATGCATACAATG
AA Mutation p.Glu297_Leu298insMetHisThrMet(p.E297_L298insMHTM)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> POLI

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54287331:54287331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1118G>A
AA Mutation p.Arg373Gln(p.R373Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54271417:54271417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.173T>A
AA Mutation p.Val58Glu(p.V58E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000579534
Start 54294334:54294334(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766146034
CDS Mutation c.2090C>A
AA Mutation p.Ser697Tyr(p.S697Y)
Mutation Classification Missense_Mutation
Feature Type Transcript