Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TECTA

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121145759:121145759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3748G>T
AA Mutation p.Asp1250Tyr(p.D1250Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121168745:121168745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5819C>T
AA Mutation p.Ala1940Val(p.A1940V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121118657:121118657(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1142T>G
AA Mutation p.Leu381Arg(p.L381R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121127830:121127830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779314752
CDS Mutation c.1853C>T
AA Mutation p.Thr618Met(p.T618M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121129678:121129678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150462448
CDS Mutation c.2408C>T
AA Mutation p.Ser803Leu(p.S803L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121145774:121145774(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3763C>T
AA Mutation p.Pro1255Ser(p.P1255S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121157947:121157947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4412C>T
AA Mutation p.Ala1471Val(p.A1471V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125569:121125569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1471C>T
AA Mutation p.Arg491Cys(p.R491C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121137774:121137774(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3295T>C
AA Mutation p.Ser1099Pro(p.S1099P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121128111:121128111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2134G>A
AA Mutation p.Val712Met(p.V712M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121158139:121158139(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766064833
CDS Mutation c.4604C>T
AA Mutation p.Ser1535Leu(p.S1535L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121109421:121109421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.409G>A
AA Mutation p.Ala137Thr(p.A137T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125443:121125443(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776376171
CDS Mutation c.1345G>A
AA Mutation p.Val449Ile(p.V449I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121160303:121160303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142929996
CDS Mutation c.4858G>A
AA Mutation p.Gly1620Ser(p.G1620S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121130080:121130080(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2810G>A
AA Mutation p.Arg937His(p.R937H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121129714:121129714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111759871
CDS Mutation c.2444C>T
AA Mutation p.Thr815Met(p.T815M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121152919:121152919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199637730
CDS Mutation c.4144G>A
AA Mutation p.Val1382Met(p.V1382M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121137613:121137613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3134T>A
AA Mutation p.Leu1045His(p.L1045H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121153039:121153039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4264C>T
AA Mutation p.Pro1422Ser(p.P1422S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121130145:121130145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186684402
CDS Mutation c.2875C>T
AA Mutation p.Arg959Trp(p.R959W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121127811:121127811(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143730090
CDS Mutation c.1834G>A
AA Mutation p.Asp612Asn(p.D612N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121127833:121127833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1856C>T
AA Mutation p.Ala619Val(p.A619V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121128024:121128024(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2047G>A
AA Mutation p.Val683Ile(p.V683I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121109223:121109223(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.211G>A
AA Mutation p.Gly71Arg(p.G71R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121168139:121168139(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200977539
CDS Mutation c.5672C>T
AA Mutation p.Thr1891Met(p.T1891M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121118317:121118317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.802C>T
AA Mutation p.Arg268Trp(p.R268W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121162185:121162185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5087A>G
AA Mutation p.Asp1696Gly(p.D1696G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121168110:121168110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5643C>A
AA Mutation p.Asn1881Lys(p.N1881K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125570:121125570(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760011660
CDS Mutation c.1472G>A
AA Mutation p.Arg491His(p.R491H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121137574:121137574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3095C>T
AA Mutation p.Thr1032Met(p.T1032M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121168135:121168135(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121909063
CDS Mutation c.5668C>T
AA Mutation p.Arg1890Cys(p.R1890C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121166634:121166634(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5440T>C
AA Mutation p.Ser1814Pro(p.S1814P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121166728:121166728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5534T>C
AA Mutation p.Phe1845Ser(p.F1845S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121152946:121152946(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779748263
CDS Mutation c.4171G>A
AA Mutation p.Ala1391Thr(p.A1391T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125608:121125608(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1510G>A
AA Mutation p.Val504Ile(p.V504I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125666:121125666(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750520238
CDS Mutation c.1568A>G
AA Mutation p.Tyr523Cys(p.Y523C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121153065:121153065(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4290T>A
AA Mutation p.Asp1430Glu(p.D1430E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121187893:121187893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6061C>T
AA Mutation p.Arg2021Cys(p.R2021C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121129992:121129992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2722A>G
AA Mutation p.Ser908Gly(p.S908G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121109321:121109321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.309G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121160302:121160302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764153521
CDS Mutation c.4857C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121125628:121125628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1530C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121189085:121189085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6168C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121130156:121130156(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138065050
CDS Mutation c.2886C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121158206:121158206(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4671C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121158218:121158218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4683G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121137518:121137518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3039C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121127927:121127927(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1950C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121128017:121128017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2040C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121158185:121158185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4650C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121162240:121162240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151087951
CDS Mutation c.5142C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121146016:121146016(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4005G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121129733:121129733(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs553481323
CDS Mutation c.2463C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121128164:121128164(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529258973
CDS Mutation c.2187C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121127909:121127909(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372952940
CDS Mutation c.1932C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121129691:121129691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2421A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121129901:121129901(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2631C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121127789:121127789(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138914618
CDS Mutation c.1812C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121118499:121118499(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.984A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121145611:121145611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3600C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121109222:121109222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779707919
CDS Mutation c.210C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121187967:121187967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139552118
CDS Mutation c.6135C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121109252:121109252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142064539
CDS Mutation c.240C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121109297:121109297(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775584376
CDS Mutation c.285C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121127939:121127939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143808255
CDS Mutation c.1962C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121162291:121162291(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761402579
CDS Mutation c.5193C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000264037
Start 121125854:121125854(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764994708
CDS Mutation c.1756C>T
AA Mutation p.Arg586Ter(p.R586*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000264037
Start 121109334:121109334(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751352958
CDS Mutation c.322C>T
AA Mutation p.Arg108Ter(p.R108*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000264037
Start 121129698:121129698(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758974282
CDS Mutation c.2428C>T
AA Mutation p.Arg810Ter(p.R810*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000264037
Start 121168055:121168056(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5588_5589insT
AA Mutation p.Asn1864GlnfsTer8(p.N1864Qfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000264037
Start 121187922:121187923(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6094dupG
AA Mutation p.Asp2032GlyfsTer22(p.D2032Gfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> TECTA

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121129764:121129764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2494C>A
AA Mutation p.Leu832Ile(p.L832I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125611:121125611(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770474140
CDS Mutation c.1513G>A
AA Mutation p.Asp505Asn(p.D505N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121158168:121158168(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377156351
CDS Mutation c.4633G>A
AA Mutation p.Val1545Ile(p.V1545I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121125764:121125764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1666A>G
AA Mutation p.Ser556Gly(p.S556G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121127811:121127811(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143730090
CDS Mutation c.1834G>A
AA Mutation p.Asp612Asn(p.D612N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121168780:121168780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5854G>C
AA Mutation p.Val1952Leu(p.V1952L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121118560:121118560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1045G>T
AA Mutation p.Ala349Ser(p.A349S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121109340:121109340(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755609982
CDS Mutation c.328G>A
AA Mutation p.Glu110Lys(p.E110K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121113163:121113163(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.578C>T
AA Mutation p.Ala193Val(p.A193V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121129967:121129967(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2697C>A
AA Mutation p.Asp899Glu(p.D899E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121118572:121118572(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1057T>G
AA Mutation p.Leu353Val(p.L353V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000264037
Start 121158186:121158186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4651G>A
AA Mutation p.Glu1551Lys(p.E1551K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121153077:121153077(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767937741
CDS Mutation c.4302C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121162345:121162345(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377599437
CDS Mutation c.5247C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121162240:121162240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151087951
CDS Mutation c.5142C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121166714:121166714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762155210
CDS Mutation c.5520C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000264037
Start 121137656:121137656(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3177C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000264037
Start 121125489:121125489(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1391delA
AA Mutation p.Tyr464LeufsTer94(p.Y464Lfs*94)
Mutation Classification Frame_Shift_Del
Feature Type Transcript