Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PFKP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3119970:3119970(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762200045
CDS Mutation c.1609G>A
AA Mutation p.Ala537Thr(p.A537T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3082405:3082405(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765385843
CDS Mutation c.130C>T
AA Mutation p.Arg44Cys(p.R44C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3113388:3113388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1241C>A
AA Mutation p.Ala414Asp(p.A414D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3103847:3103847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.523G>T
AA Mutation p.Asp175Tyr(p.D175Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3108732:3108732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.902G>A
AA Mutation p.Arg301His(p.R301H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3112241:3112241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200384787
CDS Mutation c.1109C>T
AA Mutation p.Ala370Val(p.A370V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3129940:3129940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1805C>T
AA Mutation p.Ala602Val(p.A602V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3067692:3067692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97G>A
AA Mutation p.Gly33Ser(p.G33S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3133291:3133291(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1999A>T
AA Mutation p.Asn667Tyr(p.N667Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3132399:3132399(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1868C>T
AA Mutation p.Thr623Met(p.T623M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3099335:3099335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.247T>C
AA Mutation p.Ser83Pro(p.S83P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3107224:3107224(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745382243
CDS Mutation c.785G>A
AA Mutation p.Arg262Gln(p.R262Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3136488:3136488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141623019
CDS Mutation c.2264G>A
AA Mutation p.Arg755Gln(p.R755Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3082417:3082417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.142C>T
AA Mutation p.Arg48Cys(p.R48C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3129825:3129825(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760969268
CDS Mutation c.1690G>A
AA Mutation p.Asp564Asn(p.D564N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3134497:3134497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2037T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3116787:3116787(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61760975
CDS Mutation c.1383C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3103867:3103867(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144894621
CDS Mutation c.543C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3109453:3109453(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1062C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3118842:3118842(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370592480
CDS Mutation c.1503C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3103879:3103879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140594448
CDS Mutation c.555C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3129953:3129953(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs1052337
CDS Mutation c.1818C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000381125
Start 3113410:3113410(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765502375
CDS Mutation c.1263C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000381125
Start 3107226:3107226(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.793delA
AA Mutation p.Arg265GlyfsTer2(p.R265Gfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000381125
Start 3134582:3134582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2122G>T
AA Mutation p.Gly708Ter(p.G708*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000381125
Start 3113118:3113118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1155-1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> PFKP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3133234:3133234(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777816568
CDS Mutation c.1942G>A
AA Mutation p.Asp648Asn(p.D648N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000381125
Start 3135740:3135740(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2127A>C
AA Mutation p.Lys709Asn(p.K709N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000381125
Start 3135736:3135737(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2130dupA
AA Mutation p.Phe711IlefsTer5(p.F711Ifs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript