Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EYS

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64388808:64388808(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5960C>T
AA Mutation p.Thr1987Ile(p.T1987I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63806217:63806217(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7384A>C
AA Mutation p.Ile2462Leu(p.I2462L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590707:64590707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5160G>T
AA Mutation p.Glu1720Asp(p.E1720D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64626234:64626234(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3455G>A
AA Mutation p.Gly1152Glu(p.G1152E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64902497:64902497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2645T>G
AA Mutation p.Phe882Cys(p.F882C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65495038:65495038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.373C>T
AA Mutation p.Leu125Phe(p.L125F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590739:64590739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5128A>C
AA Mutation p.Thr1710Pro(p.T1710P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64821716:64821716(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3172G>A
AA Mutation p.Glu1058Lys(p.E1058K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64945878:64945878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2296A>C
AA Mutation p.Asn766His(p.N766H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65494774:65494774(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.637G>A
AA Mutation p.Glu213Lys(p.E213K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000370616
Start 64066338:64066338(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6725G>A
AA Mutation p.Arg2242His(p.R2242H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64912625:64912625(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2500G>T
AA Mutation p.Val834Leu(p.V834L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64821649:64821649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3239T>G
AA Mutation p.Ile1080Ser(p.I1080S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65344091:65344091(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577044383
CDS Mutation c.1546G>A
AA Mutation p.Asp516Asn(p.D516N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63789126:63789126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7510C>A
AA Mutation p.Pro2504Thr(p.P2504T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64591019:64591019(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4848A>C
AA Mutation p.Glu1616Asp(p.E1616D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65384437:65384437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1248C>A
AA Mutation p.Ser416Arg(p.S416R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65494797:65494797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.614C>A
AA Mutation p.Pro205Gln(p.P205Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64902146:64902146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367857088
CDS Mutation c.2813A>G
AA Mutation p.Lys938Arg(p.K938R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64591278:64591278(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4589C>A
AA Mutation p.Thr1530Asn(p.T1530N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65353579:65353579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1338G>T
AA Mutation p.Trp446Cys(p.W446C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65494920:65494920(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.491G>T
AA Mutation p.Arg164Leu(p.R164L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63720796:63720796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9298C>A
AA Mutation p.Leu3100Ile(p.L3100I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64591404:64591404(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4463G>A
AA Mutation p.Ser1488Asn(p.S1488N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65494845:65494845(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.566G>A
AA Mutation p.Cys189Tyr(p.C189Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65495220:65495220(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.191C>G
AA Mutation p.Thr64Ser(p.T64S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63721501:63721501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8593T>G
AA Mutation p.Phe2865Val(p.F2865V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63778157:63778157(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7747C>T
AA Mutation p.Arg2583Cys(p.R2583C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63984465:63984465(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6973G>A
AA Mutation p.Ala2325Thr(p.A2325T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64617446:64617446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3656C>T
AA Mutation p.Ser1219Leu(p.S1219L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64822810:64822810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3005A>C
AA Mutation p.Glu1002Ala(p.E1002A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65384467:65384467(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201331309
CDS Mutation c.1218G>T
AA Mutation p.Glu406Asp(p.E406D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65494716:65494716(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.695G>T
AA Mutation p.Arg232Ile(p.R232I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63789183:63789183(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7453G>T
AA Mutation p.Gly2485Cys(p.G2485C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63726596:63726596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8219A>C
AA Mutation p.His2740Pro(p.H2740P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64439169:64439169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5828C>A
AA Mutation p.Thr1943Asn(p.T1943N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590563:64590563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5304T>G
AA Mutation p.Asn1768Lys(p.N1768K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64626210:64626210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3479T>G
AA Mutation p.Ile1160Ser(p.I1160S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65296015:65296015(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548565748
CDS Mutation c.1871C>T
AA Mutation p.Ser624Leu(p.S624L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65495068:65495068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.343G>A
AA Mutation p.Val115Met(p.V115M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63778037:63778037(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7867G>T
AA Mutation p.Gly2623Trp(p.G2623W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64591323:64591323(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4544G>T
AA Mutation p.Arg1515Leu(p.R1515L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63999128:63999128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6781G>A
AA Mutation p.Asp2261Asn(p.D2261N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64066450:64066450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6613C>A
AA Mutation p.Leu2205Ile(p.L2205I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65057622:65057622(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2129C>A
AA Mutation p.Pro710Gln(p.P710Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63721351:63721351(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8743G>A
AA Mutation p.Gly2915Ser(p.G2915S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65495152:65495152(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780162766
CDS Mutation c.259A>T
AA Mutation p.Ile87Phe(p.I87F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64591631:64591631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4236G>T
AA Mutation p.Glu1412Asp(p.E1412D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64593302:64593302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3692C>A
AA Mutation p.Ser1231Tyr(p.S1231Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590238:64590238(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139822086
CDS Mutation c.5629C>T
AA Mutation p.Arg1877Trp(p.R1877W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64902204:64902204(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2755G>T
AA Mutation p.Gly919Trp(p.G919W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590849:64590849(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5018C>T
AA Mutation p.Thr1673Ile(p.T1673I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64590299:64590299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5568G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64593250:64593250(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3744C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64813404:64813404(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3417T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 63726571:63726571(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369121423
CDS Mutation c.8244C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64591286:64591286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4581G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64590605:64590605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779784002
CDS Mutation c.5262G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64590743:64590743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5124C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 63788169:63788169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7659T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 63789070:63789070(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7566G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64590329:64590329(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5538G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 65057676:65057676(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2075delA
AA Mutation p.Asn692MetfsTer37(p.N692Mfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 64590243:64590243(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5624delC
AA Mutation p.Pro1875LeufsTer4(p.P1875Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 64591629:64591629(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4238delA
AA Mutation p.Asn1413ThrfsTer15(p.N1413Tfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 65494751:65494751(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.660delA
AA Mutation p.Lys220AsnfsTer37(p.K220Nfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 64912631:64912631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2494C>T
AA Mutation p.Gln832Ter(p.Q832*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 65335113:65335113(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1633G>T
AA Mutation p.Glu545Ter(p.E545*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 65495272:65495272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.139G>T
AA Mutation p.Glu47Ter(p.E47*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 65495332:65495332(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79C>T
AA Mutation p.Gln27Ter(p.Q27*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 63778124:63778124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7780G>T
AA Mutation p.Gly2594Ter(p.G2594*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 64813538:64813538(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3283C>T
AA Mutation p.Gln1095Ter(p.Q1095*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 65494921:65494921(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794727631
CDS Mutation c.490C>T
AA Mutation p.Arg164Ter(p.R164*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 64591747:64591747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4120C>T
AA Mutation p.Arg1374Ter(p.R1374*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 64591822:64591822(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4045C>T
AA Mutation p.Arg1349Ter(p.R1349*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 65495249:65495249(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.162C>A
AA Mutation p.Tyr54Ter(p.Y54*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 64886834:64886835(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2854dupT
AA Mutation p.Cys952LeufsTer2(p.C952Lfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 63999167:63999168(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6741dupT
AA Mutation p.Gly2248TrpfsTer10(p.G2248Wfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 64590379:64590380(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5487dupA
AA Mutation p.Glu1830ArgfsTer16(p.E1830Rfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 65494795:65494796(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.615_616insG
AA Mutation p.Phe206ValfsTer10(p.F206Vfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000370616
Start 63806214:63806215(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7386_7387insAGGTCTT
AA Mutation p.Phe2463ArgfsTer16(p.F2463Rfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 82
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000370616
Start 64439353:64439353(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5645-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 83
Mutation Consequence splice_donor_variant
Transcription ID ENST00000370616
Start 64822649:64822649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3164+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 84
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000370616
Start 64439353:64439353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5645-1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> EYS

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64388779:64388779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5989G>A
AA Mutation p.Glu1997Lys(p.E1997K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64912496:64912496(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2629A>G
AA Mutation p.Ile877Val(p.I877V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65405340:65405340(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.890C>A
AA Mutation p.Pro297His(p.P297H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64886795:64886795(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2894T>G
AA Mutation p.Leu965Arg(p.L965R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 65495252:65495252(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.159C>A
AA Mutation p.Phe53Leu(p.F53L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000370616
Start 65405365:65405365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.865C>A
AA Mutation p.Pro289Thr(p.P289T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 63726653:63726653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8162G>A
AA Mutation p.Arg2721Lys(p.R2721K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000370616
Start 64590675:64590675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5192C>A
AA Mutation p.Ser1731Tyr(p.S1731Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000370616
Start 64886773:64886773(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2916C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000370616
Start 64902444:64902444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2698C>T
AA Mutation p.Gln900Ter(p.Q900*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence splice_donor_variant
Transcription ID ENST00000370616
Start 65494662:65494662(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.748+1G>A
Mutation Classification Splice_Site
Feature Type Transcript