Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SPTAN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128584316:128584316(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2228A>C
AA Mutation p.Gln743Pro(p.Q743P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128583197:128583197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1927C>A
AA Mutation p.His643Asn(p.H643N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128626515:128626515(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373259652
CDS Mutation c.6389G>A
AA Mutation p.Arg2130His(p.R2130H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128581018:128581018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1420C>T
AA Mutation p.Arg474Trp(p.R474W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128626590:128626590(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745582924
CDS Mutation c.6464G>A
AA Mutation p.Arg2155His(p.R2155H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128627461:128627461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6637C>T
AA Mutation p.His2213Tyr(p.H2213Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128625833:128625833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6119A>G
AA Mutation p.Lys2040Arg(p.K2040R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128632631:128632631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773474201
CDS Mutation c.7058G>A
AA Mutation p.Arg2353His(p.R2353H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128591549:128591549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779759134
CDS Mutation c.3079G>A
AA Mutation p.Ala1027Thr(p.A1027T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128633238:128633238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7323C>G
AA Mutation p.Cys2441Trp(p.C2441W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128605323:128605323(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3892C>T
AA Mutation p.Arg1298Cys(p.R1298C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128608196:128608196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4411G>A
AA Mutation p.Glu1471Lys(p.E1471K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128632869:128632869(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7207G>A
AA Mutation p.Val2403Ile(p.V2403I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128615819:128615819(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5321A>G
AA Mutation p.Asp1774Gly(p.D1774G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128617702:128617702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5405T>C
AA Mutation p.Leu1802Pro(p.L1802P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128582549:128582549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753283021
CDS Mutation c.1643G>A
AA Mutation p.Arg548Gln(p.R548Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128592991:128592991(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3164T>C
AA Mutation p.Ile1055Thr(p.I1055T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128583857:128583857(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2081T>C
AA Mutation p.Leu694Pro(p.L694P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128626459:128626459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6333G>T
AA Mutation p.Glu2111Asp(p.E2111D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128632812:128632812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7150G>T
AA Mutation p.Gly2384Cys(p.G2384C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000372731
Start 128618108:128618108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5585G>A
AA Mutation p.Arg1862Gln(p.R1862Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128632713:128632713(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200456378
CDS Mutation c.7140G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128633274:128633274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7359C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128621214:128621214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144435438
CDS Mutation c.5775C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128611761:128611761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539062498
CDS Mutation c.4806C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128583885:128583885(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369710857
CDS Mutation c.2109G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128580951:128580951(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778695725
CDS Mutation c.1353G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128608216:128608216(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4431G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128583160:128583160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1890C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128591530:128591530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530361602
CDS Mutation c.3060C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128605145:128605145(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3831C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128627469:128627469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112955915
CDS Mutation c.6645C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000372731
Start 128582823:128582823(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1783delA
AA Mutation p.Thr595LeufsTer44(p.T595Lfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000372731
Start 128584489:128584489(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2401C>T
AA Mutation p.Arg801Ter(p.R801*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000372731
Start 128632465:128632465(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6979G>T
AA Mutation p.Glu2327Ter(p.E2327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000372731
Start 128607695:128607695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4138C>T
AA Mutation p.Arg1380Ter(p.R1380*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> SPTAN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128605110:128605110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3796G>A
AA Mutation p.Ala1266Thr(p.A1266T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128582737:128582737(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376897533
CDS Mutation c.1694G>A
AA Mutation p.Arg565His(p.R565H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128618886:128618886(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5601A>T
AA Mutation p.Glu1867Asp(p.E1867D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128591604:128591604(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368406599
CDS Mutation c.3134G>A
AA Mutation p.Arg1045Gln(p.R1045Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128618993:128618993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5708C>A
AA Mutation p.Ala1903Asp(p.A1903D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128583829:128583829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2053C>T
AA Mutation p.Arg685Cys(p.R685C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128615756:128615756(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5258C>T
AA Mutation p.Ala1753Val(p.A1753V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128566911:128566911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.171G>T
AA Mutation p.Glu57Asp(p.E57D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128617692:128617692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5395G>A
AA Mutation p.Val1799Met(p.V1799M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000372731
Start 128607930:128607930(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746913959
CDS Mutation c.4225G>A
AA Mutation p.Gly1409Arg(p.G1409R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128627463:128627463(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372825476
CDS Mutation c.6639C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128568810:128568810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.276G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000372731
Start 128632686:128632686(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369792563
CDS Mutation c.7113C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000372731
Start 128612184:128612184(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4966G>T
AA Mutation p.Glu1656Ter(p.E1656*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript