Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137015434:137015434(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3677C>T
AA Mutation p.Ala1226Val(p.A1226V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137015747:137015747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3442G>A
AA Mutation p.Asp1148Asn(p.D1148N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137016142:137016142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369448216
CDS Mutation c.3137C>T
AA Mutation p.Ser1046Leu(p.S1046L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137008589:137008589(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7102A>T
AA Mutation p.Asn2368Tyr(p.N2368Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137010655:137010655(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370257727
CDS Mutation c.6139G>A
AA Mutation p.Asp2047Asn(p.D2047N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137014987:137014987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3808G>A
AA Mutation p.Asp1270Asn(p.D1270N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137015729:137015729(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376990200
CDS Mutation c.3460G>A
AA Mutation p.Val1154Met(p.V1154M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137021474:137021474(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760034490
CDS Mutation c.815A>T
AA Mutation p.Gln272Leu(p.Q272L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137015734:137015734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3455C>T
AA Mutation p.Ala1152Val(p.A1152V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137011490:137011490(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5716G>A
AA Mutation p.Val1906Met(p.V1906M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137009861:137009861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374618311
CDS Mutation c.6538G>A
AA Mutation p.Ala2180Thr(p.A2180T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137017058:137017058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2620G>A
AA Mutation p.Val874Met(p.V874M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137012124:137012124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5338G>T
AA Mutation p.Ala1780Ser(p.A1780S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137013209:137013209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4660G>T
AA Mutation p.Gly1554Trp(p.G1554W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137009800:137009800(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6599C>T
AA Mutation p.Ala2200Val(p.A2200V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137012499:137012499(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5173C>T
AA Mutation p.Arg1725Cys(p.R1725C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000341511
Start 137008417:137008417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7274G>T
AA Mutation p.Arg2425Leu(p.R2425L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137011964:137011964(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5415C>A
AA Mutation p.Phe1805Leu(p.F1805L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137009834:137009834(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368969710
CDS Mutation c.6565G>A
AA Mutation p.Gly2189Ser(p.G2189S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137012916:137012916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4877C>T
AA Mutation p.Thr1626Met(p.T1626M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137014260:137014260(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772864842
CDS Mutation c.4148G>A
AA Mutation p.Arg1383His(p.R1383H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137017285:137017285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2464T>C
AA Mutation p.Tyr822His(p.Y822H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137011039:137011039(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs573640596
CDS Mutation c.5990C>T
AA Mutation p.Ala1997Val(p.A1997V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137021997:137021997(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572A>G
AA Mutation p.Tyr191Cys(p.Y191C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137014800:137014800(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370357831
CDS Mutation c.3893G>A
AA Mutation p.Arg1298His(p.R1298H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137016636:137016636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762702619
CDS Mutation c.2861G>A
AA Mutation p.Arg954His(p.R954H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137015067:137015067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751449038
CDS Mutation c.3728G>A
AA Mutation p.Arg1243Gln(p.R1243Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137010047:137010047(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6431C>T
AA Mutation p.Thr2144Met(p.T2144M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137021520:137021520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.769C>A
AA Mutation p.Gln257Lys(p.Q257K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137012878:137012878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4915G>A
AA Mutation p.Val1639Ile(p.V1639I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137014317:137014317(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771596724
CDS Mutation c.4091C>T
AA Mutation p.Ser1364Leu(p.S1364L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137020442:137020442(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1319C>T
AA Mutation p.Thr440Met(p.T440M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137021473:137021473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.816G>T
AA Mutation p.Gln272His(p.Q272H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137016467:137016467(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778569704
CDS Mutation c.2928G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137010064:137010064(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758812632
CDS Mutation c.6414G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137017011:137017011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202178377
CDS Mutation c.2667C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137012275:137012275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537922057
CDS Mutation c.5289G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137012506:137012506(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200702540
CDS Mutation c.5166C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137011892:137011892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765435669
CDS Mutation c.5487C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137015685:137015685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3504G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137011008:137011008(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6021C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137012000:137012000(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367599305
CDS Mutation c.5379C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137016308:137016308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748093466
CDS Mutation c.3087G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137011512:137011512(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751150346
CDS Mutation c.5694C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000341511
Start 137010217:137010217(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6329delG
AA Mutation p.Gly2110AlafsTer11(p.G2110Afs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000341511
Start 137018723:137018723(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1815delT
AA Mutation p.Phe605LeufsTer4(p.F605Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000341511
Start 137017271:137017271(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2478C>A
AA Mutation p.Tyr826Ter(p.Y826*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000341511
Start 137011107:137011107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5924-2A>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ABCA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137018915:137018915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1710G>T
AA Mutation p.Gln570His(p.Q570H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137022752:137022752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.389C>T
AA Mutation p.Ala130Val(p.A130V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000341511
Start 137011224:137011224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5885C>T
AA Mutation p.Ala1962Val(p.A1962V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000341511
Start 137013875:137013875(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775618875
CDS Mutation c.4404C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000341511
Start 137016627:137016628(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2869dupC
AA Mutation p.Arg957ProfsTer19(p.R957Pfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript