Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ITGAV

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000261023
Start 186602022:186602022(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142312022
CDS Mutation c.187C>T
AA Mutation p.Arg63Trp(p.R63W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186622416:186622416(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.394C>G
AA Mutation p.Gln132Glu(p.Q132E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186590480:186590480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.142T>A
AA Mutation p.Tyr48Asn(p.Y48N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186646769:186646769(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543038574
CDS Mutation c.1243G>A
AA Mutation p.Ala415Thr(p.A415T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186669735:186669735(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368269954
CDS Mutation c.2627C>T
AA Mutation p.Thr876Met(p.T876M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186665172:186665172(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554897868
CDS Mutation c.2120G>A
AA Mutation p.Arg707His(p.R707H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186667679:186667679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2336G>A
AA Mutation p.Ser779Asn(p.S779N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000261023
Start 186677198:186677198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3053T>C
AA Mutation p.Met1018Thr(p.M1018T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186646725:186646725(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1199A>C
AA Mutation p.Lys400Thr(p.K400T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186646754:186646754(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1228T>C
AA Mutation p.Ser410Pro(p.S410P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000261023
Start 186664605:186664605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2037G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000261023
Start 186675855:186675855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769295279
CDS Mutation c.2856G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186656358:186656358(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1682delG
AA Mutation p.Gly561AspfsTer2(p.G561Dfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186656325:186656325(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1646delC
AA Mutation p.Pro549GlnfsTer7(p.P549Qfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186646721:186646721(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1200delA
AA Mutation p.Gly401GlufsTer13(p.G401Efs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000261023
Start 186668815:186668815(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2487G>A
AA Mutation p.Trp829Ter(p.W829*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000261023
Start 186675823:186675823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2824G>T
AA Mutation p.Glu942Ter(p.E942*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained;inframe_insertion;splice_region_variant
Transcription ID ENST00000261023
Start 186666781:186666782(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2244_2245insTGTCTAAATAAAAAATAATGTTCT
AA Mutation p.Gln748_Ser749insCysLeuAsnLysLysTerCysSer(p.Q748_S749insCLNKK*CS)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186667758:186667759(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2415_2416insCATTTTCAAAA
AA Mutation p.Val806HisfsTer11(p.V806Hfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 20
Mutation Consequence splice_donor_variant
Transcription ID ENST00000261023
Start 186649886:186649886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1397+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 21
Mutation Consequence splice_donor_variant
Transcription ID ENST00000261023
Start 186675718:186675718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2820+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ITGAV

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186667727:186667727(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2384A>G
AA Mutation p.Asn795Ser(p.N795S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186675845:186675845(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2846C>A
AA Mutation p.Ser949Tyr(p.S949Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261023
Start 186622423:186622423(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201507967
CDS Mutation c.401A>C
AA Mutation p.Lys134Thr(p.K134T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000261023
Start 186656358:186656358(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1682delG
AA Mutation p.Gly561AspfsTer2(p.G561Dfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000261023
Start 186656297:186656297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1615C>T
AA Mutation p.Arg539Ter(p.R539*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000261023
Start 186636084:186636084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.634C>T
AA Mutation p.Gln212Ter(p.Q212*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000261023
Start 186649839:186649839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1352-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000261023
Start 186675819:186675819(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2821-1G>A
Mutation Classification Splice_Site
Feature Type Transcript