Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCN2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165315699:165315699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775923587
CDS Mutation c.1612C>T
AA Mutation p.Arg538Cys(p.R538C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165388718:165388718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4912C>T
AA Mutation p.Arg1638Cys(p.R1638C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165331563:165331563(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2383A>T
AA Mutation p.Asn795Tyr(p.N795Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165388805:165388805(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4999C>A
AA Mutation p.Leu1667Ile(p.L1667I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165323329:165323329(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1845C>A
AA Mutation p.His615Gln(p.H615Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389196:165389196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5390T>A
AA Mutation p.Met1797Lys(p.M1797K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165313728:165313728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1143G>T
AA Mutation p.Met381Ile(p.M381I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165295982:165295982(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.159C>A
AA Mutation p.Asn53Lys(p.N53K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165313932:165313932(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1207A>C
AA Mutation p.Ile403Leu(p.I403L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389689:165389689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5883G>T
AA Mutation p.Glu1961Asp(p.E1961D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165295906:165295906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83G>A
AA Mutation p.Arg28His(p.R28H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165323195:165323195(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750049844
CDS Mutation c.1711C>T
AA Mutation p.Arg571Cys(p.R571C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165323271:165323271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1787A>G
AA Mutation p.Asp596Gly(p.D596G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165388779:165388779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4973C>A
AA Mutation p.Pro1658His(p.P1658H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165310377:165310377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.752T>C
AA Mutation p.Val251Ala(p.V251A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389166:165389166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5360C>A
AA Mutation p.Ala1787Glu(p.A1787E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165310542:165310542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.917C>A
AA Mutation p.Thr306Asn(p.T306N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165313649:165313649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1064A>C
AA Mutation p.Lys355Thr(p.K355T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165331354:165331354(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2174G>A
AA Mutation p.Cys725Tyr(p.C725Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165313636:165313636(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1051T>A
AA Mutation p.Tyr351Asn(p.Y351N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165344657:165344657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2665G>A
AA Mutation p.Ala889Thr(p.A889T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389228:165389228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767541516
CDS Mutation c.5422G>A
AA Mutation p.Asp1808Asn(p.D1808N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165313908:165313908(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs796053179
CDS Mutation c.1183C>T
AA Mutation p.Arg395Cys(p.R395C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389559:165389559(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201718767
CDS Mutation c.5753G>A
AA Mutation p.Arg1918His(p.R1918H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165309390:165309390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149024364
CDS Mutation c.644C>T
AA Mutation p.Ala215Val(p.A215V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165367327:165367327(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs387906684
CDS Mutation c.3631G>A
AA Mutation p.Glu1211Lys(p.E1211K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165374701:165374701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3989T>G
AA Mutation p.Leu1330Arg(p.L1330R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389369:165389369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5563C>A
AA Mutation p.Leu1855Ile(p.L1855I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165323325:165323325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143734912
CDS Mutation c.1841C>T
AA Mutation p.Pro614Leu(p.P614L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165354621:165354621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3349T>G
AA Mutation p.Leu1117Val(p.L1117V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389354:165389354(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769442306
CDS Mutation c.5548G>A
AA Mutation p.Asp1850Asn(p.D1850N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165380659:165380659(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4376T>G
AA Mutation p.Phe1459Cys(p.F1459C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165310413:165310413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs387906686
CDS Mutation c.788C>T
AA Mutation p.Ala263Val(p.A263V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165386871:165386871(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4677G>T
AA Mutation p.Met1559Ile(p.M1559I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165323321:165323321(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769069833
CDS Mutation c.1837G>A
AA Mutation p.Val613Met(p.V613M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165373318:165373318(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3943A>G
AA Mutation p.Arg1315Gly(p.R1315G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165310384:165310384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.759C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165344807:165344807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2815C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165386790:165386790(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371690453
CDS Mutation c.4596C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165331484:165331484(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764479273
CDS Mutation c.2304C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165367326:165367326(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371422797
CDS Mutation c.3630C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165389125:165389125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373913233
CDS Mutation c.5319G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165367290:165367290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140194137
CDS Mutation c.3594G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165365151:165365151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3408T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165331427:165331427(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2247A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165388648:165388648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4842G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165373230:165373230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3855A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000283256
Start 165312068:165312068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1014T>A
AA Mutation p.Cys338Ter(p.C338*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000283256
Start 165314039:165314040(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1314_1315insAGATTTTAATAAATTTTATATA
AA Mutation p.Ala439ArgfsTer3(p.A439Rfs*3)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000283256
Start 165313934:165313935(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1215dupT
AA Mutation p.Val406CysfsTer24(p.V406Cfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000283256
Start 165314084:165314085(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1364dupA
AA Mutation p.Gln456AlafsTer15(p.Q456Afs*15)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SCN2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165308772:165308772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.583G>T
AA Mutation p.Asp195Tyr(p.D195Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389325:165389325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5519T>G
AA Mutation p.Ile1840Ser(p.I1840S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165309410:165309410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.664C>T
AA Mutation p.Leu222Phe(p.L222F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165354267:165354267(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs796053126
CDS Mutation c.2995G>A
AA Mutation p.Glu999Lys(p.E999K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000283256
Start 165388629:165388629(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4823G>A
AA Mutation p.Gly1608Glu(p.G1608E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165388710:165388710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4904G>A
AA Mutation p.Arg1635Gln(p.R1635Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165326981:165326981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2146G>A
AA Mutation p.Glu716Lys(p.E716K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000283256
Start 165389689:165389689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5883G>T
AA Mutation p.Glu1961Asp(p.E1961D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165344794:165344794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2802C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165354665:165354665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3393C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165315665:165315665(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141269163
CDS Mutation c.1578G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000283256
Start 165388828:165388828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186157680
CDS Mutation c.5022C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000283256
Start 165381123:165381123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4477G>T
AA Mutation p.Glu1493Ter(p.E1493*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000283256
Start 165310448:165310448(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs181327458
CDS Mutation c.823C>T
AA Mutation p.Arg275Ter(p.R275*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000283256
Start 165344717:165344717(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2725G>T
AA Mutation p.Glu909Ter(p.E909*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript