Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FBN2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128395211:128395211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1142G>A
AA Mutation p.Gly381Glu(p.G381E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128335463:128335463(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200481467
CDS Mutation c.3839C>T
AA Mutation p.Ser1280Leu(p.S1280L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262464
Start 128530693:128530693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.338C>T
AA Mutation p.Pro113Leu(p.P113L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128278675:128278675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7305G>T
AA Mutation p.Lys2435Asn(p.K2435N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128289186:128289186(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6578C>A
AA Mutation p.Ser2193Tyr(p.S2193Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128530684:128530684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.347G>T
AA Mutation p.Arg116Ile(p.R116I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128291607:128291607(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6214T>C
AA Mutation p.Cys2072Arg(p.C2072R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128330611:128330611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4307G>T
AA Mutation p.Cys1436Phe(p.C1436F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128364637:128364637(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2391T>A
AA Mutation p.Ser797Arg(p.S797R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128310072:128310072(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5111G>T
AA Mutation p.Gly1704Val(p.G1704V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128305049:128305049(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5708G>A
AA Mutation p.Cys1903Tyr(p.C1903Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128446499:128446499(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.934A>G
AA Mutation p.Thr312Ala(p.T312A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128259684:128259684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8510C>A
AA Mutation p.Ser2837Tyr(p.S2837Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128369281:128369281(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766945762
CDS Mutation c.2149C>T
AA Mutation p.Arg717Cys(p.R717C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262464
Start 128344387:128344387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202219940
CDS Mutation c.3341C>T
AA Mutation p.Thr1114Met(p.T1114M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128318217:128318217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4649C>T
AA Mutation p.Thr1550Met(p.T1550M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128378797:128378797(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1697G>T
AA Mutation p.Arg566Met(p.R566M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262464
Start 128280192:128280192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7138G>A
AA Mutation p.Asp2380Asn(p.D2380N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128392032:128392032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1589A>T
AA Mutation p.Asn530Ile(p.N530I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128305912:128305912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5459C>T
AA Mutation p.Ala1820Val(p.A1820V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128335553:128335553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3749A>G
AA Mutation p.Asn1250Ser(p.N1250S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128464884:128464884(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.666C>G
AA Mutation p.Asn222Lys(p.N222K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128287401:128287401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6787C>A
AA Mutation p.Leu2263Met(p.L2263M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128289933:128289933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6460T>G
AA Mutation p.Leu2154Val(p.L2154V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128345579:128345579(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2995C>T
AA Mutation p.Arg999Cys(p.R999C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128537525:128537525(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.79G>A
AA Mutation p.Ala27Thr(p.A27T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128378885:128378885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1609G>A
AA Mutation p.Asp537Asn(p.D537N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128318933:128318933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4540C>A
AA Mutation p.His1514Asn(p.H1514N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128530663:128530663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.368T>G
AA Mutation p.Phe123Cys(p.F123C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128369188:128369188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2242A>C
AA Mutation p.Asn748His(p.N748H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128344393:128344393(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3335A>G
AA Mutation p.Asn1112Ser(p.N1112S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128338105:128338105(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3490C>T
AA Mutation p.Arg1164Cys(p.R1164C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128393189:128393189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138046782
CDS Mutation c.1411G>A
AA Mutation p.Val471Ile(p.V471I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128309372:128309372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5228G>T
AA Mutation p.Ser1743Ile(p.S1743I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128376734:128376734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1969A>G
AA Mutation p.Thr657Ala(p.T657A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128276147:128276147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7485C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128300920:128300920(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149380208
CDS Mutation c.6063C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128305623:128305623(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5562C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128263478:128263478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8139G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128301422:128301422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6006C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128305920:128305920(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5451C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128537585:128537585(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128338115:128338115(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142323824
CDS Mutation c.3480C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128349468:128349468(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2868T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128393178:128393178(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764073494
CDS Mutation c.1422C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128350920:128350920(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2760C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000262464
Start 128290765:128290765(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6412delG
AA Mutation p.Asp2138ThrfsTer111(p.D2138Tfs*111)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000262464
Start 128259700:128259700(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8494delA
AA Mutation p.Ile2832SerfsTer65(p.I2832Sfs*65)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000262464
Start 128289216:128289216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6548C>A
AA Mutation p.Ser2183Ter(p.S2183*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000262464
Start 128377833:128377833(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1768C>T
AA Mutation p.Arg590Ter(p.R590*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000262464
Start 128273932:128273933(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7747_7748insATTAAGAATTTTT
AA Mutation p.Gly2583AspfsTer2(p.G2583Dfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000262464
Start 128377848:128377849(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1752_1753insAAATAAAAATGTATATC
AA Mutation p.Leu585LysfsTer2(p.L585Kfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000262464
Start 128263469:128263470(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8147dupG
AA Mutation p.Tyr2717LeufsTer24(p.Y2717Lfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000262464
Start 128274618:128274619(version: GRCh38)
Mutation Type INS
dbSNP_RS rs748600284
CDS Mutation c.7659dupG
AA Mutation p.Phe2554ValfsTer4(p.F2554Vfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> FBN2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128336011:128336011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368105987
CDS Mutation c.3701C>T
AA Mutation p.Thr1234Met(p.T1234M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128349398:128349398(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2938T>A
AA Mutation p.Cys980Ser(p.C980S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128537399:128537399(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.205G>A
AA Mutation p.Ala69Thr(p.A69T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262464
Start 128305080:128305080(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5677C>T
AA Mutation p.Arg1893Cys(p.R1893C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128338975:128338975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200060005
CDS Mutation c.3430G>A
AA Mutation p.Glu1144Lys(p.E1144K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128519323:128519323(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.578C>A
AA Mutation p.Pro193His(p.P193H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128366424:128366424(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2255T>C
AA Mutation p.Phe752Ser(p.F752S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262464
Start 128378884:128378884(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565227443
CDS Mutation c.1610A>G
AA Mutation p.Asp537Gly(p.D537G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128345412:128345412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3162C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128311925:128311925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4908T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128537385:128537385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.219C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128335995:128335995(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3717C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128344449:128344449(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142809999
CDS Mutation c.3279C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128312641:128312641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4872C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128300869:128300869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6114C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128312707:128312707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4806T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128333000:128333000(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775405425
CDS Mutation c.4134C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000262464
Start 128263532:128263532(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765452930
CDS Mutation c.8085C>T
Mutation Classification Silent
Feature Type Transcript