Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TP53

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674935:7674935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.596G>T
AA Mutation p.Gly199Val(p.G199V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673796:7673796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.824G>A
AA Mutation p.Cys275Tyr(p.C275Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673803:7673803(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913343
CDS Mutation c.817C>T
AA Mutation p.Arg273Cys(p.R273C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673802:7673802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934576
CDS Mutation c.818G>A
AA Mutation p.Arg273His(p.R273H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674256:7674256(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.707A>G
AA Mutation p.Tyr236Cys(p.Y236C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674899:7674899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.632C>T
AA Mutation p.Thr211Ile(p.T211I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674220:7674220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs11540652
CDS Mutation c.743G>A
AA Mutation p.Arg248Gln(p.R248Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675089:7675089(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138729528
CDS Mutation c.523C>T
AA Mutation p.Arg175Cys(p.R175C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674887:7674887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.644G>A
AA Mutation p.Ser215Asn(p.S215N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673806:7673806(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912657
CDS Mutation c.814G>T
AA Mutation p.Val272Leu(p.V272L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675148:7675148(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.464C>T
AA Mutation p.Thr155Ile(p.T155I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675085:7675085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.527G>T
AA Mutation p.Cys176Phe(p.C176F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675088:7675088(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934578
CDS Mutation c.524G>A
AA Mutation p.Arg175His(p.R175H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674230:7674230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934575
CDS Mutation c.733G>A
AA Mutation p.Gly245Ser(p.G245S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675137:7675137(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730882000
CDS Mutation c.475G>C
AA Mutation p.Ala159Pro(p.A159P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675131:7675131(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193920817
CDS Mutation c.481G>A
AA Mutation p.Ala161Thr(p.A161T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675208:7675208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781991
CDS Mutation c.404G>A
AA Mutation p.Cys135Tyr(p.C135Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7670712:7670712(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769934890
CDS Mutation c.997C>T
AA Mutation p.Arg333Cys(p.R333C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673776:7673776(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934574
CDS Mutation c.844C>T
AA Mutation p.Arg282Trp(p.R282W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675217:7675217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.395A>C
AA Mutation p.Lys132Thr(p.K132T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674187:7674187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.776A>T
AA Mutation p.Asp259Val(p.D259V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7676031:7676031(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.338T>G
AA Mutation p.Phe113Cys(p.F113C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673806:7673806(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912657
CDS Mutation c.814G>A
AA Mutation p.Val272Met(p.V272M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7676043:7676043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.326T>G
AA Mutation p.Phe109Cys(p.F109C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674884:7674884(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.647T>G
AA Mutation p.Val216Gly(p.V216G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675085:7675085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786202962
CDS Mutation c.527G>A
AA Mutation p.Cys176Tyr(p.C176Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674872:7674872(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912666
CDS Mutation c.659A>G
AA Mutation p.Tyr220Cys(p.Y220C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675185:7675185(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782620
CDS Mutation c.427G>A
AA Mutation p.Val143Met(p.V143M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673823:7673823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193920774
CDS Mutation c.797G>A
AA Mutation p.Gly266Glu(p.G266E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675190:7675190(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781288
CDS Mutation c.422G>A
AA Mutation p.Cys141Tyr(p.C141Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674188:7674188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.775G>T
AA Mutation p.Asp259Tyr(p.D259Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675095:7675095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.517G>T
AA Mutation p.Val173Leu(p.V173L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674232:7674232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.731G>A
AA Mutation p.Gly244Asp(p.G244D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673823:7673823(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.797G>T
AA Mutation p.Gly266Val(p.G266V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673787:7673787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.833C>G
AA Mutation p.Pro278Arg(p.P278R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675232:7675232(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730881999
CDS Mutation c.380C>T
AA Mutation p.Ser127Phe(p.S127F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674257:7674257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.706T>C
AA Mutation p.Tyr236His(p.Y236H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675999:7675999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.370T>G
AA Mutation p.Cys124Gly(p.C124G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675124:7675124(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148924904
CDS Mutation c.488A>G
AA Mutation p.Tyr163Cys(p.Y163C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675070:7675070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397514495
CDS Mutation c.542G>A
AA Mutation p.Arg181His(p.R181H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675095:7675095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.517G>A
AA Mutation p.Val173Met(p.V173M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7676133:7676133(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.236C>T
AA Mutation p.Ala79Val(p.A79V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673764:7673764(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786201059
CDS Mutation c.856G>A
AA Mutation p.Glu286Lys(p.E286K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674917:7674917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.614A>G
AA Mutation p.Tyr205Cys(p.Y205C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675216:7675216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.396G>C
AA Mutation p.Lys132Asn(p.K132N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673820:7673820(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780075
CDS Mutation c.800G>A
AA Mutation p.Arg267Gln(p.R267Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675076:7675076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.536A>G
AA Mutation p.His179Arg(p.H179R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674221:7674221(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912651
CDS Mutation c.742C>T
AA Mutation p.Arg248Trp(p.R248W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674243:7674243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.720T>G
AA Mutation p.Ser240Arg(p.S240R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675139:7675139(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782144
CDS Mutation c.473G>A
AA Mutation p.Arg158His(p.R158H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675178:7675178(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.434T>G
AA Mutation p.Leu145Arg(p.L145R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7670700:7670700(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782529
CDS Mutation c.1009C>T
AA Mutation p.Arg337Cys(p.R337C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675127:7675127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.485T>A
AA Mutation p.Ile162Asn(p.I162N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7670699:7670699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912664
CDS Mutation c.1010G>T
AA Mutation p.Arg337Leu(p.R337L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674890:7674890(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.641A>G
AA Mutation p.His214Arg(p.H214R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673799:7673799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.821T>A
AA Mutation p.Val274Asp(p.V274D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675233:7675233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.379T>A
AA Mutation p.Ser127Thr(p.S127T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673821:7673821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs55832599
CDS Mutation c.799C>T
AA Mutation p.Arg267Trp(p.R267W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675224:7675224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.388C>T
AA Mutation p.Leu130Phe(p.L130F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674247:7674247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.716A>G
AA Mutation p.Asn239Ser(p.N239S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675216:7675216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.396G>T
AA Mutation p.Lys132Asn(p.K132N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673767:7673767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112431538
CDS Mutation c.853G>A
AA Mutation p.Glu285Lys(p.E285K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675217:7675217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.395A>G
AA Mutation p.Lys132Arg(p.K132R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673820:7673820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.800G>T
AA Mutation p.Arg267Leu(p.R267L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675190:7675190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.422G>C
AA Mutation p.Cys141Ser(p.C141S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673788:7673788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs17849781
CDS Mutation c.832C>G
AA Mutation p.Pro278Ala(p.P278A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675084:7675084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.528C>G
AA Mutation p.Cys176Trp(p.C176W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674268:7674268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.695T>G
AA Mutation p.Ile232Ser(p.I232S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675143:7675143(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912654
CDS Mutation c.469G>T
AA Mutation p.Val157Phe(p.V157F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674893:7674893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.638G>T
AA Mutation p.Arg213Leu(p.R213L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000269305
Start 7674859:7674859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.672G>C
AA Mutation p.Glu224Asp(p.E224D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675214:7675214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.398T>G
AA Mutation p.Met133Arg(p.M133R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674893:7674893(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778720
CDS Mutation c.638G>A
AA Mutation p.Arg213Gln(p.R213Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674252:7674252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782664
CDS Mutation c.711G>A
AA Mutation p.Met237Ile(p.M237I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675218:7675218(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747342068
CDS Mutation c.394A>G
AA Mutation p.Lys132Glu(p.K132E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674252:7674252(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.711G>T
AA Mutation p.Met237Ile(p.M237I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674962:7674962(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.569C>T
AA Mutation p.Pro190Leu(p.P190L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674263:7674263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.700T>C
AA Mutation p.Tyr234His(p.Y234H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000269305
Start 7670692:7670692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1017G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674240:7674240(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.723delC
AA Mutation p.Cys242AlafsTer5(p.C242Afs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7670704:7670704(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1005delT
AA Mutation p.Glu336SerfsTer9(p.E336Sfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673563:7673563(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.965delC
AA Mutation p.Pro322HisfsTer23(p.P322Hfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7670705:7670705(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1004delG
AA Mutation p.Arg335LeufsTer10(p.R335Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676153:7676153(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.216delC
AA Mutation p.Val73TrpfsTer50(p.V73Wfs*50)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675999:7675999(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.370delT
AA Mutation p.Cys124AlafsTer46(p.C124Afs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673718:7673718(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.902delC
AA Mutation p.Pro301GlnfsTer44(p.P301Qfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675153:7675160(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.452_459delCCCCGCCC
AA Mutation p.Pro151ArgfsTer27(p.P151Rfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 88
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674276:7674277(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.686_687delGT
AA Mutation p.Cys229TyrfsTer10(p.C229Yfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676398:7676398(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.80delC
AA Mutation p.Pro27LeufsTer17(p.P27Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676257:7676257(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.112delC
AA Mutation p.Gln38LysfsTer6(p.Q38Kfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675080:7675080(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.532delC
AA Mutation p.His178ThrfsTer69(p.H178Tfs*69)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 92
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673763:7673781(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.839_857delGAGACCGGCGCACAGAGGA
AA Mutation p.Arg280LysfsTer59(p.R280Kfs*59)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 93
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676190:7676190(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.179delC
AA Mutation p.Pro60GlnfsTer63(p.P60Qfs*63)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 94
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673747:7673753(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.867_873delCCGCAAG
AA Mutation p.Arg290LysfsTer53(p.R290Kfs*53)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 95
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674894:7674894(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516436
CDS Mutation c.637C>T
AA Mutation p.Arg213Ter(p.R213*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7675084:7675084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.528C>A
AA Mutation p.Cys176Ter(p.C176*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7676088:7676088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.281C>A
AA Mutation p.Ser94Ter(p.S94*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674255:7674255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.708C>G
AA Mutation p.Tyr236Ter(p.Y236*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674945:7674945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516435
CDS Mutation c.586C>T
AA Mutation p.Arg196Ter(p.R196*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673704:7673704(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913344
CDS Mutation c.916C>T
AA Mutation p.Arg306Ter(p.R306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7670685:7670685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730882029
CDS Mutation c.1024C>T
AA Mutation p.Arg342Ter(p.R342*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7676071:7676071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.298C>T
AA Mutation p.Gln100Ter(p.Q100*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7676097:7676097(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.272G>A
AA Mutation p.Trp91Ter(p.W91*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673824:7673824(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.796G>T
AA Mutation p.Gly266Ter(p.G266*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673767:7673767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.853G>T
AA Mutation p.Glu285Ter(p.E285*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673809:7673809(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.811G>T
AA Mutation p.Glu271Ter(p.E271*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674939:7674939(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.592G>T
AA Mutation p.Glu198Ter(p.E198*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676264:7676265(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.104dupT
AA Mutation p.Leu35PhefsTer8(p.L35Ffs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 109
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673537:7673538(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.990dupT
AA Mutation p.Gln331SerfsTer6(p.Q331Sfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 110
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674947:7674948(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.583dupA
AA Mutation p.Ile195AsnfsTer14(p.I195Nfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 111
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675156:7675157(version: GRCh38)
Mutation Type INS
dbSNP_RS rs730882019
CDS Mutation c.455dupC
AA Mutation p.Pro153AlafsTer28(p.P153Afs*28)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 112
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673717:7673718(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.902dupC
AA Mutation p.Gly302ArgfsTer4(p.G302Rfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 113
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674938:7674939(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.592dupG
AA Mutation p.Glu198GlyfsTer11(p.E198Gfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 114
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7673534:7673534(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs11575997
CDS Mutation c.993+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 115
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7674858:7674858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.672+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 116
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000269305
Start 7670716:7670716(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782272
CDS Mutation c.994-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 117
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7675052:7675052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.559+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 118
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7673699:7673699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.919+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 119
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7673534:7673534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.993+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 120
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7675051:7675051(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.559+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 121
Mutation Consequence inframe_deletion
Transcription ID ENST00000269305
Start 7675064:7675081(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.531_548delCCACCATGAGCGCTGCTC
AA Mutation p.His178_Ser183del(p.H178_S183del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 122
Mutation Consequence inframe_deletion
Transcription ID ENST00000269305
Start 7673759:7673764(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.856_861delGAAGAG
AA Mutation p.Glu286_Glu287del(p.E286_E287del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 123
Mutation Consequence inframe_deletion
Transcription ID ENST00000269305
Start 7675066:7675083(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.529_546delCCCCACCATGAGCGCTGC
AA Mutation p.Pro177_Cys182del(p.P177_C182del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 124
Mutation Consequence inframe_insertion
Transcription ID ENST00000269305
Start 7675176:7675177(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.430_435dupCAGCTG
AA Mutation p.Gln144_Leu145dup(p.Q144_L145dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> TP53

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673788:7673788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs17849781
CDS Mutation c.832C>G
AA Mutation p.Pro278Ala(p.P278A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674221:7674221(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912651
CDS Mutation c.742C>T
AA Mutation p.Arg248Trp(p.R248W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674893:7674893(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778720
CDS Mutation c.638G>A
AA Mutation p.Arg213Gln(p.R213Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7670700:7670700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1009C>A
AA Mutation p.Arg337Ser(p.R337S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673803:7673803(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913343
CDS Mutation c.817C>T
AA Mutation p.Arg273Cys(p.R273C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675088:7675088(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934578
CDS Mutation c.524G>A
AA Mutation p.Arg175His(p.R175H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673763:7673763(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.857A>G
AA Mutation p.Glu286Gly(p.E286G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674230:7674230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934575
CDS Mutation c.733G>A
AA Mutation p.Gly245Ser(p.G245S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674917:7674917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.614A>C
AA Mutation p.Tyr205Ser(p.Y205S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674950:7674950(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.581T>G
AA Mutation p.Leu194Arg(p.L194R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674947:7674947(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760043106
CDS Mutation c.584T>C
AA Mutation p.Ile195Thr(p.I195T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673802:7673802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934576
CDS Mutation c.818G>A
AA Mutation p.Arg273His(p.R273H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675199:7675199(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750600586
CDS Mutation c.413C>T
AA Mutation p.Ala138Val(p.A138V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673776:7673776(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934574
CDS Mutation c.844C>T
AA Mutation p.Arg282Trp(p.R282W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674220:7674220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs11540652
CDS Mutation c.743G>A
AA Mutation p.Arg248Gln(p.R248Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675191:7675191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.421T>C
AA Mutation p.Cys141Arg(p.C141R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674954:7674954(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.577C>A
AA Mutation p.His193Asn(p.H193N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674887:7674887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.644G>T
AA Mutation p.Ser215Ile(p.S215I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673764:7673764(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786201059
CDS Mutation c.856G>A
AA Mutation p.Glu286Lys(p.E286K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675136:7675136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.476C>T
AA Mutation p.Ala159Val(p.A159V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674268:7674268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.695T>A
AA Mutation p.Ile232Asn(p.I232N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673796:7673796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.824G>A
AA Mutation p.Cys275Tyr(p.C275Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675161:7675161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs28934874
CDS Mutation c.451C>T
AA Mutation p.Pro151Ser(p.P151S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674190:7674190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.773A>G
AA Mutation p.Glu258Gly(p.E258G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7676043:7676043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.326T>G
AA Mutation p.Phe109Cys(p.F109C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673823:7673823(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.797G>T
AA Mutation p.Gly266Val(p.G266V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674951:7674951(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780071
CDS Mutation c.580C>T
AA Mutation p.Leu194Phe(p.L194F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7675160:7675160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.452C>A
AA Mutation p.Pro151His(p.P151H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674250:7674250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730882005
CDS Mutation c.713G>A
AA Mutation p.Cys238Tyr(p.C238Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674918:7674918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.613T>G
AA Mutation p.Tyr205Asp(p.Y205D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674214:7674214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.749C>T
AA Mutation p.Pro250Leu(p.P250L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674229:7674229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912656
CDS Mutation c.734G>A
AA Mutation p.Gly245Asp(p.G245D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7674948:7674948(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.583A>T
AA Mutation p.Ile195Phe(p.I195F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000269305
Start 7673800:7673800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.820G>C
AA Mutation p.Val274Leu(p.V274L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000269305
Start 7673835:7673835(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.785G>T
AA Mutation p.Gly262Val(p.G262V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676035:7676045(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.324_334delTTTCCGTCTGG
AA Mutation p.Phe109LeufsTer36(p.F109Lfs*36)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675118:7675121(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.491_494delAGCA
AA Mutation p.Lys164SerfsTer5(p.K164Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676102:7676102(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs587783062
CDS Mutation c.267delC
AA Mutation p.Ser90ProfsTer33(p.S90Pfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674894:7674894(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516436
CDS Mutation c.637C>T
AA Mutation p.Arg213Ter(p.R213*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000269305
Start 7673537:7673537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.991C>T
AA Mutation p.Gln331Ter(p.Q331*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7674945:7674945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516435
CDS Mutation c.586C>T
AA Mutation p.Arg196Ter(p.R196*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7675074:7675074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.538G>T
AA Mutation p.Glu180Ter(p.E180*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673704:7673704(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913344
CDS Mutation c.916C>T
AA Mutation p.Arg306Ter(p.R306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673767:7673767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.853G>T
AA Mutation p.Glu285Ter(p.E285*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7675101:7675101(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.511G>T
AA Mutation p.Glu171Ter(p.E171*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7675174:7675174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.438G>A
AA Mutation p.Trp146Ter(p.W146*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7676218:7676218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.151G>T
AA Mutation p.Glu51Ter(p.E51*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7670685:7670685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730882029
CDS Mutation c.1024C>T
AA Mutation p.Arg342Ter(p.R342*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7675206:7675206(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.406C>T
AA Mutation p.Gln136Ter(p.Q136*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000269305
Start 7673761:7673761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.859G>T
AA Mutation p.Glu287Ter(p.E287*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7675998:7675999(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.369_370dupTT
AA Mutation p.Cys124PhefsTer47(p.C124Ffs*47)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7670705:7670706(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1003_1004insA
AA Mutation p.Arg335GlnfsTer2(p.R335Qfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000269305
Start 7676272:7676273(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.97-2_97-1dupAG
AA Mutation p.Leu35ProfsTer10(p.L35Pfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674264:7674265(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.695_698dupTCCA
AA Mutation p.Tyr234ProfsTer7(p.Y234Pfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676212:7676213(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.156dupA
AA Mutation p.Trp53MetfsTer4(p.W53Mfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7673573:7673574(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.951_954dupGCCA
AA Mutation p.Lys319AlafsTer19(p.K319Afs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7674876:7674877(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.654dupG
AA Mutation p.Pro219AlafsTer3(p.P219Afs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000269305
Start 7676088:7676089(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.279_280dupGT
AA Mutation p.Ser94CysfsTer30(p.S94Cfs*30)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000269305
Start 7676273:7676273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 60
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7673534:7673534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.993+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 61
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269305
Start 7675052:7675052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.559+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 62
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000269305
Start 7676273:7676273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97-1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 63
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000269305
Start 7675237:7675237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.376-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 64
Mutation Consequence splice_acceptor_variant;coding_sequence_variant
Transcription ID ENST00000269305
Start 7675221:7675237(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.376-1_391delGTACTCCCCTGCCCTCA
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 65
Mutation Consequence inframe_deletion
Transcription ID ENST00000269305
Start 7676025:7676048(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.321_344delCGGTTTCCGTCTGGGCTTCTTGCA
AA Mutation p.Gly108_His115del(p.G108_H115del)
Mutation Classification In_Frame_Del
Feature Type Transcript