Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CEP290

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88086446:88086446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374582514
CDS Mutation c.4247G>A
AA Mutation p.Arg1416His(p.R1416H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88093828:88093828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769274354
CDS Mutation c.3251G>A
AA Mutation p.Arg1084Gln(p.R1084Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88050404:88050404(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7159G>T
AA Mutation p.Asp2387Tyr(p.D2387Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88077855:88077855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5428A>C
AA Mutation p.Asn1810His(p.N1810H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88093946:88093946(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3133A>C
AA Mutation p.Lys1045Gln(p.K1045Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88118654:88118654(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1612C>A
AA Mutation p.Leu538Ile(p.L538I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88058894:88058894(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6772C>T
AA Mutation p.Leu2258Phe(p.L2258F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88062731:88062731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6318A>T
AA Mutation p.Glu2106Asp(p.E2106D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88064104:88064104(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6147A>G
AA Mutation p.Ile2049Met(p.I2049M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88071314:88071314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5991A>C
AA Mutation p.Glu1997Asp(p.E1997D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88093906:88093906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3173A>C
AA Mutation p.Lys1058Thr(p.K1058T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88130558:88130558(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200063017
CDS Mutation c.503G>A
AA Mutation p.Arg168His(p.R168H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88086447:88086447(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776812442
CDS Mutation c.4246C>T
AA Mutation p.Arg1416Cys(p.R1416C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88089168:88089168(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3893T>A
AA Mutation p.Leu1298His(p.L1298H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88093861:88093861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3218C>T
AA Mutation p.Ala1073Val(p.A1073V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88055635:88055635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6901A>C
AA Mutation p.Lys2301Gln(p.K2301Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88115147:88115147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1860A>C
AA Mutation p.Glu620Asp(p.E620D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88120228:88120228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1408A>C
AA Mutation p.Asn470His(p.N470H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88049286:88049286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7338A>C
AA Mutation p.Lys2446Asn(p.K2446N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88111779:88111779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2132G>T
AA Mutation p.Arg711Ile(p.R711I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88136761:88136761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758781417
CDS Mutation c.323G>A
AA Mutation p.Arg108Gln(p.R108Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88089361:88089361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3700T>C
AA Mutation p.Tyr1234His(p.Y1234H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88118548:88118548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774824252
CDS Mutation c.1646G>A
AA Mutation p.Arg549Gln(p.R549Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88086082:88086082(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576877716
CDS Mutation c.4394G>A
AA Mutation p.Arg1465Gln(p.R1465Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88090782:88090782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3519A>T
AA Mutation p.Gln1173His(p.Q1173H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88093836:88093836(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3243A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88106798:88106798(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2694G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88111768:88111768(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2143T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88130298:88130298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.639T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88111817:88111817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2094T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000552810
Start 88071792:88071792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764895014
CDS Mutation c.5844T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88126402:88126405(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.976_979delGAGT
AA Mutation p.Glu326IlefsTer8(p.E326Ifs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88055616:88055619(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6917_6920delGAGA
AA Mutation p.Arg2306AsnfsTer40(p.R2306Nfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88130302:88130302(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs776986413
CDS Mutation c.635delA
AA Mutation p.Asn212ThrfsTer14(p.N212Tfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 35
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88106847:88106847(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2645delA
AA Mutation p.Asn882IlefsTer10(p.N882Ifs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88093844:88093844(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3235delA
AA Mutation p.Met1079CysfsTer9(p.M1079Cfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88084634:88084634(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs62640572
CDS Mutation c.4656delA
AA Mutation p.Glu1553LysfsTer4(p.E1553Kfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88050410:88050410(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs781310385
CDS Mutation c.7153delA
AA Mutation p.Ile2385Ter(p.I2385*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000552810
Start 88059898:88059898(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6645delA
AA Mutation p.Glu2216LysfsTer10(p.E2216Kfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88139552:88139552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.193G>T
AA Mutation p.Glu65Ter(p.E65*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88083053:88083053(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4990G>T
AA Mutation p.Glu1664Ter(p.E1664*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88071914:88071914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5722G>T
AA Mutation p.Glu1908Ter(p.E1908*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88106872:88106872(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2620G>T
AA Mutation p.Glu874Ter(p.E874*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88107076:88107076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2506G>T
AA Mutation p.Glu836Ter(p.E836*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88114557:88114557(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1915G>T
AA Mutation p.Glu639Ter(p.E639*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000552810
Start 88090780:88090781(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3520_3521insTAATGTA
AA Mutation p.Gln1174LeufsTer3(p.Q1174Lfs*3)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000552810
Start 88049282:88049283(version: GRCh38)
Mutation Type INS
dbSNP_RS rs281865189
CDS Mutation c.7341dupA
AA Mutation p.Leu2448ThrfsTer8(p.L2448Tfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> CEP290

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88093947:88093947(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762342726
CDS Mutation c.3132G>T
AA Mutation p.Lys1044Asn(p.K1044N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88117082:88117082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1775G>T
AA Mutation p.Arg592Ile(p.R592I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88136758:88136758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.326A>G
AA Mutation p.Asp109Gly(p.D109G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88084744:88084744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4546G>C
AA Mutation p.Glu1516Gln(p.E1516Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88084702:88084702(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748206094
CDS Mutation c.4588A>G
AA Mutation p.Lys1530Glu(p.K1530E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000552810
Start 88131166:88131166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.494A>T
AA Mutation p.Glu165Val(p.E165V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88071859:88071859(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778030031
CDS Mutation c.5777G>A
AA Mutation p.Arg1926Gln(p.R1926Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88111844:88111844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2067G>T
AA Mutation p.Lys689Asn(p.K689N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88120238:88120238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1398G>T
AA Mutation p.Lys466Asn(p.K466N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88080194:88080194(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5214G>T
AA Mutation p.Glu1738Asp(p.E1738D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000552810
Start 88106752:88106752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2740A>C
AA Mutation p.Asn914His(p.N914H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88071352:88071352(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5953G>T
AA Mutation p.Glu1985Ter(p.E1985*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88118552:88118552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1642G>T
AA Mutation p.Glu548Ter(p.E548*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000552810
Start 88071866:88071866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5770G>T
AA Mutation p.Gly1924Ter(p.G1924*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript