Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCB5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20685810:20685810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1984G>C
AA Mutation p.Ala662Pro(p.A662P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20648047:20648047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1175C>A
AA Mutation p.Ser392Tyr(p.S392Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20704798:20704798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2412A>C
AA Mutation p.Gln804His(p.Q804H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20681557:20681557(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755832012
CDS Mutation c.1760G>A
AA Mutation p.Arg587Gln(p.R587Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643294:20643294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.425A>C
AA Mutation p.Gln142Pro(p.Q142P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20704737:20704737(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139933666
CDS Mutation c.2351T>G
AA Mutation p.Phe784Cys(p.F784C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20728389:20728389(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371459532
CDS Mutation c.2801C>T
AA Mutation p.Ala934Val(p.A934V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20699906:20699906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2236T>G
AA Mutation p.Cys746Gly(p.C746G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20742925:20742925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3073C>G
AA Mutation p.Pro1025Ala(p.P1025A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20727068:20727068(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111647033
CDS Mutation c.2654G>A
AA Mutation p.Arg885His(p.R885H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20626595:20626595(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761794408
CDS Mutation c.92T>A
AA Mutation p.Val31Asp(p.V31D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20728407:20728407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2819G>A
AA Mutation p.Gly940Glu(p.G940E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20755620:20755620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3770A>G
AA Mutation p.Gln1257Arg(p.Q1257R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20646032:20646032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.875G>C
AA Mutation p.Gly292Ala(p.G292A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20698455:20698455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2059C>T
AA Mutation p.Pro687Ser(p.P687S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20650067:20650067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372984477
CDS Mutation c.1252G>A
AA Mutation p.Ala418Thr(p.A418T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643616:20643616(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530929710
CDS Mutation c.662C>T
AA Mutation p.Ala221Val(p.A221V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20647638:20647638(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1085T>C
AA Mutation p.Val362Ala(p.V362A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20699887:20699887(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369169862
CDS Mutation c.2217C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20651509:20651509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756443208
CDS Mutation c.1422C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20742933:20742933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3081C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20755507:20755507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200868952
CDS Mutation c.3657C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20647618:20647618(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1065T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20628706:20628706(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.127C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000404938
Start 20643514:20643514(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.563delA
AA Mutation p.Asn188ThrfsTer14(p.N188Tfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000404938
Start 20742904:20742904(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200343372
CDS Mutation c.3052C>T
AA Mutation p.Arg1018Ter(p.R1018*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000404938
Start 20643287:20643287(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753647911
CDS Mutation c.418C>T
AA Mutation p.Arg140Ter(p.R140*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000404938
Start 20645870:20645870(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.793G>T
AA Mutation p.Glu265Ter(p.E265*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000404938
Start 20651468:20651468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761699207
CDS Mutation c.1381C>T
AA Mutation p.Arg461Ter(p.R461*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ABCB5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20623332:20623332(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762495535
CDS Mutation c.47G>A
AA Mutation p.Arg16Lys(p.R16K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643326:20643326(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs181716362
CDS Mutation c.457G>A
AA Mutation p.Gly153Ser(p.G153S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20651532:20651532(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1445T>A
AA Mutation p.Ile482Asn(p.I482N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643204:20643204(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.335G>C
AA Mutation p.Gly112Ala(p.G112A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20728431:20728431(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200559589
CDS Mutation c.2843G>A
AA Mutation p.Arg948Gln(p.R948Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20645983:20645983(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.826G>A
AA Mutation p.Ala276Thr(p.A276T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20700074:20700074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2276G>T
AA Mutation p.Arg759Ile(p.R759I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20755580:20755580(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3730C>G
AA Mutation p.Arg1244Gly(p.R1244G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643288:20643288(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368226947
CDS Mutation c.419G>A
AA Mutation p.Arg140Gln(p.R140Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20647631:20647631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1078T>G
AA Mutation p.Phe360Val(p.F360V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20650067:20650067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372984477
CDS Mutation c.1252G>A
AA Mutation p.Ala418Thr(p.A418T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20698435:20698435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2039A>C
AA Mutation p.Lys680Thr(p.K680T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20745289:20745289(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3280G>T
AA Mutation p.Ala1094Ser(p.A1094S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20643497:20643497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.543G>T
AA Mutation p.Lys181Asn(p.K181N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000404938
Start 20648023:20648023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1151G>T
AA Mutation p.Gly384Val(p.G384V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000404938
Start 20755504:20755504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3654G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000404938
Start 20704748:20704748(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2362G>T
AA Mutation p.Glu788Ter(p.E788*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence splice_donor_variant
Transcription ID ENST00000404938
Start 20698551:20698551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756265243
CDS Mutation c.2154+1G>A
Mutation Classification Splice_Site
Feature Type Transcript