Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PLEC

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921803:143921803(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368335274
CDS Mutation c.8429C>T
AA Mutation p.Ala2810Val(p.A2810V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921737:143921737(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8495G>T
AA Mutation p.Arg2832Leu(p.R2832L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932431:143932431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2357C>T
AA Mutation p.Thr786Ile(p.T786I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143934841:143934841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1325G>A
AA Mutation p.Arg442His(p.R442H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143937190:143937190(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.728C>A
AA Mutation p.Ala243Asp(p.A243D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920066:143920066(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781828296
CDS Mutation c.10166C>T
AA Mutation p.Thr3389Met(p.T3389M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143930474:143930474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2778G>T
AA Mutation p.Lys926Asn(p.K926N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921267:143921267(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8965G>T
AA Mutation p.Gly2989Cys(p.G2989C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918688:143918688(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11544G>T
AA Mutation p.Lys3848Asn(p.K3848N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932989:143932989(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781887816
CDS Mutation c.1952G>A
AA Mutation p.Arg651His(p.R651H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143926820:143926820(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4419C>A
AA Mutation p.Phe1473Leu(p.F1473L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921510:143921510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8722G>A
AA Mutation p.Glu2908Lys(p.E2908K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919695:143919695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782455932
CDS Mutation c.10537C>T
AA Mutation p.Arg3513Cys(p.R3513C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932810:143932810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782724039
CDS Mutation c.2131C>T
AA Mutation p.Arg711Trp(p.R711W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916877:143916877(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13355A>G
AA Mutation p.Gln4452Arg(p.Q4452R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922149:143922149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8083C>T
AA Mutation p.Arg2695Trp(p.R2695W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919043:143919043(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782707803
CDS Mutation c.11189C>T
AA Mutation p.Ser3730Leu(p.S3730L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919104:143919104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11128G>A
AA Mutation p.Asp3710Asn(p.D3710N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918179:143918179(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199504789
CDS Mutation c.12053G>A
AA Mutation p.Arg4018His(p.R4018H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322810
Start 143932795:143932795(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2146G>A
AA Mutation p.Glu716Lys(p.E716K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919178:143919178(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782153391
CDS Mutation c.11054A>G
AA Mutation p.Lys3685Arg(p.K3685R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919877:143919877(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10355G>A
AA Mutation p.Ser3452Asn(p.S3452N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917411:143917411(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781988786
CDS Mutation c.12821G>A
AA Mutation p.Arg4274His(p.R4274H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919395:143919395(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782148173
CDS Mutation c.10837G>A
AA Mutation p.Asp3613Asn(p.D3613N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922791:143922791(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531930290
CDS Mutation c.7549G>A
AA Mutation p.Ala2517Thr(p.A2517T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922584:143922584(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571406033
CDS Mutation c.7756C>T
AA Mutation p.Arg2586Trp(p.R2586W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921005:143921005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375208309
CDS Mutation c.9227G>A
AA Mutation p.Arg3076Gln(p.R3076Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919404:143919404(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201765507
CDS Mutation c.10828G>A
AA Mutation p.Gly3610Ser(p.G3610S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920030:143920030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200413602
CDS Mutation c.10202C>T
AA Mutation p.Ala3401Val(p.A3401V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918897:143918897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11335T>C
AA Mutation p.Tyr3779His(p.Y3779H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143937031:143937031(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.794G>A
AA Mutation p.Gly265Asp(p.G265D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916581:143916581(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200447944
CDS Mutation c.13651C>T
AA Mutation p.Arg4551Cys(p.R4551C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920994:143920994(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760837198
CDS Mutation c.9238C>T
AA Mutation p.Arg3080Trp(p.R3080W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143931644:143931644(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782679986
CDS Mutation c.2605C>T
AA Mutation p.Arg869Trp(p.R869W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932225:143932225(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372672134
CDS Mutation c.2398C>T
AA Mutation p.Arg800Trp(p.R800W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924119:143924119(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782698507
CDS Mutation c.6221C>T
AA Mutation p.Ala2074Val(p.A2074V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143925802:143925802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4538C>T
AA Mutation p.Ala1513Val(p.A1513V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920793:143920793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782145186
CDS Mutation c.9439G>A
AA Mutation p.Val3147Ile(p.V3147I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922181:143922181(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8051G>A
AA Mutation p.Arg2684Gln(p.R2684Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932458:143932458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2330T>A
AA Mutation p.Val777Glu(p.V777E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143934441:143934441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1457C>T
AA Mutation p.Ala486Val(p.A486V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143950258:143950258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.449C>A
AA Mutation p.Pro150His(p.P150H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924107:143924107(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6233A>C
AA Mutation p.Lys2078Thr(p.K2078T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922661:143922661(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7679C>T
AA Mutation p.Ala2560Val(p.A2560V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921006:143921006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782575301
CDS Mutation c.9226C>T
AA Mutation p.Arg3076Trp(p.R3076W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143927967:143927967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs533410461
CDS Mutation c.3697C>T
AA Mutation p.Arg1233Cys(p.R1233C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921312:143921312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199661077
CDS Mutation c.8920G>A
AA Mutation p.Glu2974Lys(p.E2974K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322810
Start 143935115:143935115(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1132G>A
AA Mutation p.Val378Met(p.V378M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923095:143923095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7245G>T
AA Mutation p.Glu2415Asp(p.E2415D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923435:143923435(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377663841
CDS Mutation c.6905C>T
AA Mutation p.Ala2302Val(p.A2302V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143933299:143933299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1727A>G
AA Mutation p.Glu576Gly(p.E576G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919105:143919105(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34365303
CDS Mutation c.11127C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143935071:143935071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1176C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143935883:143935883(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782104325
CDS Mutation c.978C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143922960:143922960(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531846605
CDS Mutation c.7380G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921685:143921685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8547T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143932985:143932985(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199968254
CDS Mutation c.1956C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143927731:143927731(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556372016
CDS Mutation c.3846G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921346:143921346(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374602421
CDS Mutation c.8886C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143935074:143935074(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781860563
CDS Mutation c.1173C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143920794:143920794(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782802729
CDS Mutation c.9438C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918394:143918394(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782372017
CDS Mutation c.11838C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143932707:143932707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2154G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918985:143918985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11247G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143922255:143922255(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372843420
CDS Mutation c.7977C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143950592:143950592(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs782253915
CDS Mutation c.115delC
AA Mutation p.His39MetfsTer69(p.H39Mfs*69)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143938159:143938159(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.667delG
AA Mutation p.Asp223ThrfsTer30(p.D223Tfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143920544:143920544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9688G>T
AA Mutation p.Glu3230Ter(p.E3230*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143920925:143920925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9307C>T
AA Mutation p.Gln3103Ter(p.Q3103*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143918717:143918717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11515C>T
AA Mutation p.Gln3839Ter(p.Q3839*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143923256:143923256(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7084C>T
AA Mutation p.Gln2362Ter(p.Q2362*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143925461:143925461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4879C>T
AA Mutation p.Arg1627Ter(p.R1627*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143933305:143933306(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1720dupG
AA Mutation p.Glu574GlyfsTer11(p.E574Gfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 74
Mutation Consequence inframe_deletion
Transcription ID ENST00000322810
Start 143916325:143916360(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13872_13907delTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGC
AA Mutation p.Thr4628_Arg4639del(p.T4628_R4639del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> PLEC

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917090:143917090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370769102
CDS Mutation c.13142G>A
AA Mutation p.Arg4381His(p.R4381H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919220:143919220(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11012C>A
AA Mutation p.Pro3671His(p.P3671H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922856:143922856(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782367691
CDS Mutation c.7484C>T
AA Mutation p.Ala2495Val(p.A2495V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924501:143924501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5839G>C
AA Mutation p.Ala1947Pro(p.A1947P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919302:143919302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200293573
CDS Mutation c.10930G>A
AA Mutation p.Asp3644Asn(p.D3644N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143917074:143917074(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782377686
CDS Mutation c.13158G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916879:143916879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375246252
CDS Mutation c.13353G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143916551:143916552(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13680_13681delGA
AA Mutation p.Lys4561AlafsTer3(p.K4561Afs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript