Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SPTA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158636682:158636682(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754598605
CDS Mutation c.5269C>T
AA Mutation p.Arg1757Cys(p.R1757C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158656586:158656586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2876G>T
AA Mutation p.Arg959Leu(p.R959L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158614268:158614268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6827T>G
AA Mutation p.Phe2276Cys(p.F2276C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615387:158615387(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6617T>C
AA Mutation p.Ile2206Thr(p.I2206T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158662765:158662765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2401G>T
AA Mutation p.Asp801Tyr(p.D801Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158669517:158669517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775896025
CDS Mutation c.1724G>A
AA Mutation p.Arg575His(p.R575H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158674610:158674610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1178T>G
AA Mutation p.Ile393Ser(p.I393S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158626153:158626153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5903C>A
AA Mutation p.Ala1968Glu(p.A1968E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158636756:158636756(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370558180
CDS Mutation c.5195A>C
AA Mutation p.Lys1732Thr(p.K1732T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000368147
Start 158683496:158683496(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.265G>T
AA Mutation p.Gly89Trp(p.G89W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158685290:158685290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918642
CDS Mutation c.82C>T
AA Mutation p.Arg28Cys(p.R28C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158638157:158638157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5065G>T
AA Mutation p.Asp1689Tyr(p.D1689Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158683479:158683479(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.282T>G
AA Mutation p.His94Gln(p.H94Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158645343:158645343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4039G>A
AA Mutation p.Ala1347Thr(p.A1347T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158672145:158672145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565907779
CDS Mutation c.1402C>T
AA Mutation p.Arg468Cys(p.R468C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158627629:158627629(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5660A>G
AA Mutation p.Asn1887Ser(p.N1887S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158648580:158648580(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3643C>A
AA Mutation p.Leu1215Met(p.L1215M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158683421:158683421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.340A>G
AA Mutation p.Thr114Ala(p.T114A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158639912:158639912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145288947
CDS Mutation c.4833G>T
AA Mutation p.Arg1611Ser(p.R1611S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158681574:158681574(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.484C>A
AA Mutation p.Gln162Lys(p.Q162K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615349:158615349(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6655C>A
AA Mutation p.Leu2219Met(p.L2219M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158642459:158642459(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752190913
CDS Mutation c.4689C>A
AA Mutation p.Asn1563Lys(p.N1563K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158652542:158652542(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540578023
CDS Mutation c.3300G>T
AA Mutation p.Glu1100Asp(p.E1100D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158662921:158662921(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777149969
CDS Mutation c.2245C>A
AA Mutation p.Leu749Met(p.L749M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158647605:158647605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201407861
CDS Mutation c.3830G>A
AA Mutation p.Arg1277His(p.R1277H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158623054:158623054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6049T>G
AA Mutation p.Trp2017Gly(p.W2017G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158623056:158623056(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199993378
CDS Mutation c.6047G>A
AA Mutation p.Arg2016His(p.R2016H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158638237:158638237(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4985C>T
AA Mutation p.Ala1662Val(p.A1662V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158652648:158652648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3194G>A
AA Mutation p.Arg1065His(p.R1065H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158686500:158686500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18G>T
AA Mutation p.Lys6Asn(p.K6N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158634664:158634664(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367644017
CDS Mutation c.5444T>G
AA Mutation p.Leu1815Trp(p.L1815W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158623043:158623043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6060G>T
AA Mutation p.Leu2020Phe(p.L2020F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158653310:158653310(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3152G>A
AA Mutation p.Gly1051Glu(p.G1051E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158685272:158685272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201568233
CDS Mutation c.100C>T
AA Mutation p.Arg34Trp(p.R34W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158626916:158626916(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5756C>A
AA Mutation p.Ala1919Asp(p.A1919D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158669508:158669508(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1733T>C
AA Mutation p.Leu578Pro(p.L578P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158623078:158623078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374336960
CDS Mutation c.6025C>T
AA Mutation p.Arg2009Cys(p.R2009C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158636004:158636004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5341G>A
AA Mutation p.Asp1781Asn(p.D1781N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158652515:158652515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3327A>C
AA Mutation p.Glu1109Asp(p.E1109D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158683467:158683467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.294A>C
AA Mutation p.Glu98Asp(p.E98D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158653329:158653329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373548086
CDS Mutation c.3133C>T
AA Mutation p.Arg1045Trp(p.R1045W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615328:158615328(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766070401
CDS Mutation c.6676G>A
AA Mutation p.Ala2226Thr(p.A2226T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158662914:158662914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2252C>T
AA Mutation p.Ala751Val(p.A751V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158683483:158683483(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.278A>G
AA Mutation p.Lys93Arg(p.K93R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158686501:158686501(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17A>G
AA Mutation p.Lys6Arg(p.K6R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158644285:158644285(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs570224404
CDS Mutation c.4306C>T
AA Mutation p.Arg1436Trp(p.R1436W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158666320:158666320(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145972324
CDS Mutation c.2216G>A
AA Mutation p.Arg739His(p.R739H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158648553:158648553(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs567984472
CDS Mutation c.3670C>T
AA Mutation p.Arg1224Trp(p.R1224W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158666321:158666321(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199544164
CDS Mutation c.2215C>T
AA Mutation p.Arg739Cys(p.R739C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615373:158615373(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773800556
CDS Mutation c.6631C>T
AA Mutation p.Arg2211Cys(p.R2211C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158618045:158618045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6542T>C
AA Mutation p.Leu2181Pro(p.L2181P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158680681:158680681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367689703
CDS Mutation c.580G>A
AA Mutation p.Glu194Lys(p.E194K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158674412:158674412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772560248
CDS Mutation c.1267G>A
AA Mutation p.Asp423Asn(p.D423N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158656642:158656642(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759064678
CDS Mutation c.2820G>T
AA Mutation p.Lys940Asn(p.K940N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158627713:158627713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5576T>C
AA Mutation p.Met1859Thr(p.M1859T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158613821:158613821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375016862
CDS Mutation c.6889C>T
AA Mutation p.Arg2297Trp(p.R2297W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615372:158615372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751062593
CDS Mutation c.6632G>A
AA Mutation p.Arg2211His(p.R2211H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158615253:158615253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375813087
CDS Mutation c.6751C>T
AA Mutation p.Arg2251Trp(p.R2251W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158642896:158642896(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4523A>G
AA Mutation p.Asp1508Gly(p.D1508G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158619304:158619304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6448G>T
AA Mutation p.Ala2150Ser(p.A2150S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158685229:158685229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121918644
CDS Mutation c.143A>G
AA Mutation p.Lys48Arg(p.K48R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158680606:158680606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.655C>A
AA Mutation p.Gln219Lys(p.Q219K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158647668:158647668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3767C>T
AA Mutation p.Ala1256Val(p.A1256V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158677757:158677757(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.890T>G
AA Mutation p.Val297Gly(p.V297G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158652634:158652634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3208C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158680712:158680712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.549A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158656618:158656618(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2844C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158645350:158645350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4032C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158645305:158645305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771826053
CDS Mutation c.4077G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158647589:158647589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773466647
CDS Mutation c.3846G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158615329:158615329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186647435
CDS Mutation c.6675C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158669417:158669417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1824A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158615380:158615380(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763473161
CDS Mutation c.6624G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158615305:158615305(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6699C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158623103:158623103(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6000C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000368147
Start 158671440:158671440(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1502delA
AA Mutation p.Asn501ThrfsTer33(p.N501Tfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000368147
Start 158678411:158678411(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764157190
CDS Mutation c.802C>T
AA Mutation p.Arg268Ter(p.R268*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence stop_gained;inframe_insertion
Transcription ID ENST00000368147
Start 158685237:158685238(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.134_135insATCTTA
AA Mutation p.Arg45_Gly46insSerTer(p.R45_G46insS*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000368147
Start 158669415:158669416(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1818_1825dupTGATGAAG
AA Mutation p.Asp609ValfsTer11(p.D609Vfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 80
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000368147
Start 158683498:158683498(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.265-2A>G
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> SPTA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158649911:158649911(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767818064
CDS Mutation c.3514G>T
AA Mutation p.Ala1172Ser(p.A1172S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158626151:158626151(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5905A>G
AA Mutation p.Lys1969Glu(p.K1969E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158643403:158643403(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4361A>T
AA Mutation p.Glu1454Val(p.E1454V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158678464:158678464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759192785
CDS Mutation c.749G>A
AA Mutation p.Arg250His(p.R250H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158653329:158653329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373548086
CDS Mutation c.3133C>T
AA Mutation p.Arg1045Trp(p.R1045W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158654702:158654702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2945T>A
AA Mutation p.Val982Asp(p.V982D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158644266:158644266(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4325C>A
AA Mutation p.Ala1442Glu(p.A1442E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158654709:158654709(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539524312
CDS Mutation c.2938C>A
AA Mutation p.Gln980Lys(p.Q980K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158669527:158669527(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769044905
CDS Mutation c.1714G>A
AA Mutation p.Ala572Thr(p.A572T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158613789:158613789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6921G>T
AA Mutation p.Leu2307Phe(p.L2307F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158642435:158642435(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4713T>G
AA Mutation p.Cys1571Trp(p.C1571W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158638205:158638205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5017T>G
AA Mutation p.Leu1673Val(p.L1673V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158652634:158652634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777961517
CDS Mutation c.3208C>T
AA Mutation p.Arg1070Trp(p.R1070W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158669425:158669425(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1816G>T
AA Mutation p.Asp606Tyr(p.D606Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158626891:158626891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5781T>G
AA Mutation p.Asp1927Glu(p.D1927E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158685126:158685126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.246A>C
AA Mutation p.Glu82Asp(p.E82D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000368147
Start 158612906:158612906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7045G>A
AA Mutation p.Glu2349Lys(p.E2349K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158656573:158656573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371639635
CDS Mutation c.2889C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158639915:158639915(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4830G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158626149:158626149(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5907A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158619293:158619293(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6459C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000368147
Start 158639891:158639891(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754245271
CDS Mutation c.4854C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000368147
Start 158667960:158667960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1936G>T
AA Mutation p.Glu646Ter(p.E646*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000368147
Start 158617589:158617589(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6549-1G>T
Mutation Classification Splice_Site
Feature Type Transcript