Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> LRP1B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140358938:140358938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11140C>A
AA Mutation p.Leu3714Ile(p.L3714I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140370723:140370723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10995G>T
AA Mutation p.Glu3665Asp(p.E3665D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140475207:140475207(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs567834250
CDS Mutation c.9556C>T
AA Mutation p.Arg3186Cys(p.R3186C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140495616:140495616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8983G>A
AA Mutation p.Asp2995Asn(p.D2995N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141015737:141015737(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143197572
CDS Mutation c.2149G>A
AA Mutation p.Asp717Asn(p.D717N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141247307:141247307(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.511A>C
AA Mutation p.Asn171His(p.N171H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141480410:141480410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.329G>A
AA Mutation p.Gly110Glu(p.G110E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141005374:141005374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186583868
CDS Mutation c.2464G>A
AA Mutation p.Asp822Asn(p.D822N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886216:140886216(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3886C>G
AA Mutation p.His1296Asp(p.H1296D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140238279:140238279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13433G>T
AA Mutation p.Arg4478Ile(p.R4478I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141015895:141015895(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1991G>T
AA Mutation p.Trp664Leu(p.W664L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140274437:140274437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13129G>T
AA Mutation p.Asp4377Tyr(p.D4377Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140525892:140525892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7978G>A
AA Mutation p.Asp2660Asn(p.D2660N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886233:140886233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3869C>T
AA Mutation p.Thr1290Ile(p.T1290I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140485352:140485352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9416C>A
AA Mutation p.Pro3139His(p.P3139H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140492682:140492682(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9046T>G
AA Mutation p.Phe3016Val(p.F3016V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140526244:140526244(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7869G>T
AA Mutation p.Lys2623Asn(p.K2623N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140541842:140541842(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760574648
CDS Mutation c.7324C>A
AA Mutation p.Leu2442Ile(p.L2442I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140702201:140702201(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6242G>A
AA Mutation p.Gly2081Glu(p.G2081E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140841033:140841033(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4999A>T
AA Mutation p.Ser1667Cys(p.S1667C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140850287:140850287(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4754G>A
AA Mutation p.Arg1585Lys(p.R1585K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140324037:140324037(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12370T>A
AA Mutation p.Phe4124Ile(p.F4124I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140487655:140487655(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747167577
CDS Mutation c.9205C>T
AA Mutation p.Arg3069Cys(p.R3069C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140598688:140598688(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7137C>A
AA Mutation p.Phe2379Leu(p.F2379L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140851675:140851675(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4688C>A
AA Mutation p.Ser1563Tyr(p.S1563Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140868254:140868254(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4179C>A
AA Mutation p.Phe1393Leu(p.F1393L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389484
Start 141062271:141062271(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1016A>C
AA Mutation p.Lys339Thr(p.K339T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140444600:140444600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10137G>T
AA Mutation p.Glu3379Asp(p.E3379D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140442603:140442603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10315G>T
AA Mutation p.Asp3439Tyr(p.D3439Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140867755:140867755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4414C>T
AA Mutation p.Pro1472Ser(p.P1472S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141005349:141005349(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2489G>T
AA Mutation p.Gly830Val(p.G830V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389484
Start 140358946:140358946(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111336992
CDS Mutation c.11132T>C
AA Mutation p.Val3711Ala(p.V3711A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140908020:140908020(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3377C>T
AA Mutation p.Ser1126Leu(p.S1126L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140534053:140534053(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7730G>A
AA Mutation p.Cys2577Tyr(p.C2577Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141019976:141019976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1916T>G
AA Mutation p.Leu639Arg(p.L639R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141062083:141062083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1204A>C
AA Mutation p.Lys402Gln(p.K402Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140373082:140373082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10694G>A
AA Mutation p.Cys3565Tyr(p.C3565Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140923024:140923024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3260G>T
AA Mutation p.Gly1087Val(p.G1087V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140325852:140325852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12250C>T
AA Mutation p.Arg4084Cys(p.R4084C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140903019:140903019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3667A>C
AA Mutation p.Lys1223Gln(p.K1223Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141049144:141049144(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755371701
CDS Mutation c.1631T>C
AA Mutation p.Ile544Thr(p.I544T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140444429:140444429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10195G>T
AA Mutation p.Gly3399Cys(p.G3399C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140335703:140335703(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267598907
CDS Mutation c.12028G>A
AA Mutation p.Val4010Ile(p.V4010I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140350924:140350924(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11765G>T
AA Mutation p.Arg3922Ile(p.R3922I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140492625:140492625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9103T>C
AA Mutation p.Tyr3035His(p.Y3035H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140989639:140989639(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2663A>T
AA Mutation p.Asp888Val(p.D888V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140487654:140487654(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142254534
CDS Mutation c.9206G>A
AA Mutation p.Arg3069His(p.R3069H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 142130666:142130666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64A>G
AA Mutation p.Thr22Ala(p.T22A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389484
Start 140274596:140274596(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758802987
CDS Mutation c.12970G>A
AA Mutation p.Val4324Met(p.V4324M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140239461:140239461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13396C>A
AA Mutation p.Leu4466Ile(p.L4466I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140325860:140325860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12242T>G
AA Mutation p.Phe4081Cys(p.F4081C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140487660:140487660(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9200G>A
AA Mutation p.Gly3067Asp(p.G3067D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886240:140886240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3862A>G
AA Mutation p.Arg1288Gly(p.R1288G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140247119:140247119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13291C>T
AA Mutation p.Pro4431Ser(p.P4431S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140850185:140850185(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774644795
CDS Mutation c.4856G>A
AA Mutation p.Arg1619His(p.R1619H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140297837:140297837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759893587
CDS Mutation c.12938C>T
AA Mutation p.Pro4313Leu(p.P4313L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140903033:140903033(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3653G>T
AA Mutation p.Cys1218Phe(p.C1218F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140701733:140701733(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6415G>A
AA Mutation p.Val2139Ile(p.V2139I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886302:140886302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543029489
CDS Mutation c.3800G>A
AA Mutation p.Arg1267His(p.R1267H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140867679:140867679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4490A>G
AA Mutation p.Lys1497Arg(p.K1497R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140238231:140238231(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13481C>A
AA Mutation p.Ser4494Tyr(p.S4494Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140385994:140385994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10430G>T
AA Mutation p.Gly3477Val(p.G3477V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140487645:140487645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745906015
CDS Mutation c.9215G>T
AA Mutation p.Arg3072Ile(p.R3072I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140506912:140506912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8405A>G
AA Mutation p.Asn2802Ser(p.N2802S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140769315:140769315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5656C>A
AA Mutation p.His1886Asn(p.H1886N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141020097:141020097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1795G>A
AA Mutation p.Asp599Asn(p.D599N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140525981:140525981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7889G>T
AA Mutation p.Cys2630Phe(p.C2630F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140495643:140495643(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370751086
CDS Mutation c.8956T>C
AA Mutation p.Tyr2986His(p.Y2986H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140702504:140702504(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779475494
CDS Mutation c.6073C>T
AA Mutation p.Arg2025Cys(p.R2025C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140851708:140851708(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4655C>T
AA Mutation p.Ala1552Val(p.A1552V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140364744:140364744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11048A>C
AA Mutation p.Asn3683Thr(p.N3683T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140495573:140495573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs558778727
CDS Mutation c.9026C>T
AA Mutation p.Ser3009Leu(p.S3009L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140525971:140525971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7899C>A
AA Mutation p.Phe2633Leu(p.F2633L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141058912:141058912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1379G>A
AA Mutation p.Arg460Gln(p.R460Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141247342:141247342(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.476G>A
AA Mutation p.Cys159Tyr(p.C159Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140456490:140456490(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9928A>G
AA Mutation p.Asn3310Asp(p.N3310D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141049141:141049141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1634C>T
AA Mutation p.Ala545Val(p.A545V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140350892:140350892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761654571
CDS Mutation c.11797G>T
AA Mutation p.Asp3933Tyr(p.D3933Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140485368:140485368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9400G>A
AA Mutation p.Asp3134Asn(p.D3134N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886303:140886303(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3799C>T
AA Mutation p.Arg1267Cys(p.R1267C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140908030:140908030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770894543
CDS Mutation c.3367G>A
AA Mutation p.Glu1123Lys(p.E1123K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140700296:140700296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6753A>G
AA Mutation p.Ile2251Met(p.I2251M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140867674:140867674(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4495A>G
AA Mutation p.Thr1499Ala(p.T1499A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140457648:140457648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9629C>G
AA Mutation p.Pro3210Arg(p.P3210R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140840939:140840939(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5093T>G
AA Mutation p.Leu1698Arg(p.L1698R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141229273:141229273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.760G>C
AA Mutation p.Glu254Gln(p.E254Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140501850:140501850(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8687T>G
AA Mutation p.Phe2896Cys(p.F2896C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389484
Start 140840083:140840083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5117A>G
AA Mutation p.Lys1706Arg(p.K1706R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140503025:140503025(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8600G>C
AA Mutation p.Gly2867Ala(p.G2867A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140274579:140274579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12987T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140902978:140902978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3708G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140247159:140247159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13251C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 141058983:141058983(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147371945
CDS Mutation c.1308C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140233192:140233192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13794G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140350830:140350830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11859C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140950398:140950398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745554983
CDS Mutation c.2973C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140883858:140883858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4128C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140923086:140923086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113936693
CDS Mutation c.3198C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140536699:140536699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7524C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140314951:140314951(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745340239
CDS Mutation c.12789C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140475313:140475313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756957154
CDS Mutation c.9450C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140541054:140541054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7432T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 142130724:142130724(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140541903:140541903(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542052268
CDS Mutation c.7263G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140358031:140358031(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11343T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140850133:140850133(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368565366
CDS Mutation c.4908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 141229304:141229304(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750736529
CDS Mutation c.729T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140385990:140385990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10434T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140487680:140487680(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774022861
CDS Mutation c.9180C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140886268:140886268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3834A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140373081:140373081(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10695T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140851698:140851698(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375820720
CDS Mutation c.4665G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140444421:140444421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10203C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140536705:140536705(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7518A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140356388:140356388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11484C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140541816:140541816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7350A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140994017:140994017(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775728525
CDS Mutation c.2622C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140868260:140868260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4173T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 141480529:141480529(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202005787
CDS Mutation c.210C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 120
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140516994:140516994(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8044delT
AA Mutation p.Cys2682ValfsTer15(p.C2682Vfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 121
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 141055214:141055214(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1454delG
AA Mutation p.Gly485AlafsTer56(p.G485Afs*56)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 122
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140485402:140485408(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.9360_9366delCCCTACT
AA Mutation p.Tyr3120Ter(p.Y3120*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 123
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140442617:140442617(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10301delA
AA Mutation p.Asn3434ThrfsTer84(p.N3434Tfs*84)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 124
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140324003:140324003(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12404delA
AA Mutation p.Asn4135MetfsTer14(p.N4135Mfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140274465:140274465(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs751694974
CDS Mutation c.13101delG
AA Mutation p.His4368ThrfsTer4(p.H4368Tfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 126
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140536594:140536594(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7629delA
AA Mutation p.Lys2543AsnfsTer42(p.K2543Nfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 127
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140994078:140994078(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2561delA
AA Mutation p.Asn854ThrfsTer18(p.N854Tfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 128
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140525952:140525952(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7918delA
AA Mutation p.Thr2640ProfsTer5(p.T2640Pfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 129
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140297886:140297886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12889G>T
AA Mutation p.Gly4297Ter(p.G4297*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140813753:140813753(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5263G>T
AA Mutation p.Gly1755Ter(p.G1755*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140233200:140233200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13786G>T
AA Mutation p.Glu4596Ter(p.E4596*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140457570:140457570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9707C>A
AA Mutation p.Ser3236Ter(p.S3236*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140701736:140701736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6412C>T
AA Mutation p.Arg2138Ter(p.R2138*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140540991:140540991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7495G>T
AA Mutation p.Glu2499Ter(p.E2499*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 141055227:141055227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1441G>T
AA Mutation p.Gly481Ter(p.G481*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140233215:140233215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13771G>T
AA Mutation p.Glu4591Ter(p.E4591*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 141062187:141062187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1100C>A
AA Mutation p.Ser367Ter(p.S367*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140950238:140950238(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3133G>T
AA Mutation p.Glu1045Ter(p.E1045*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 141015895:141015895(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1991G>A
AA Mutation p.Trp664Ter(p.W664*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140536599:140536599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7624G>T
AA Mutation p.Glu2542Ter(p.E2542*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 141062206:141062206(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1081C>T
AA Mutation p.Arg361Ter(p.R361*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140233269:140233269(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760776195
CDS Mutation c.13717C>T
AA Mutation p.Arg4573Ter(p.R4573*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140358027:140358027(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755519211
CDS Mutation c.11347C>T
AA Mutation p.Arg3783Ter(p.R3783*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140233257:140233257(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13729G>T
AA Mutation p.Gly4577Ter(p.G4577*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140534126:140534126(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140801406
CDS Mutation c.7657C>T
AA Mutation p.Arg2553Ter(p.R2553*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000389484
Start 140334532:140334533(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12143_12144insATAACTGTTAACAGTAATATACTTG
AA Mutation p.Asp4048GlufsTer2(p.D4048Efs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140495578:140495578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9021C>A
AA Mutation p.Cys3007Ter(p.C3007*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140485468:140485469(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9299dupA
AA Mutation p.Asn3100LysfsTer6(p.N3100Kfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 149
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 141810391:141810392(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.92dupT
AA Mutation p.Leu31PhefsTer3(p.L31Ffs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 150
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140350819:140350820(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11869dupA
AA Mutation p.Arg3957LysfsTer11(p.R3957Kfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 151
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140492645:140492646(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9082dupA
AA Mutation p.Ile3028AsnfsTer2(p.I3028Nfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 152
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 141062078:141062079(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1208dupA
AA Mutation p.Asn403LysfsTer2(p.N403Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 153
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140358089:140358090(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.11284dupT
AA Mutation p.Cys3762LeufsTer2(p.C3762Lfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 154
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000389484
Start 140868262:140868263(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4170_4171insCACT
AA Mutation p.Ile1391HisfsTer16(p.I1391Hfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 155
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140324019:140324020(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12386_12387dupAT
AA Mutation p.Gly4130MetfsTer20(p.G4130Mfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> LRP1B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140233268:140233268(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143346664
CDS Mutation c.13718G>A
AA Mutation p.Arg4573Gln(p.R4573Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140239461:140239461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13396C>A
AA Mutation p.Leu4466Ile(p.L4466I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140335774:140335774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11957C>T
AA Mutation p.Thr3986Ile(p.T3986I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140485442:140485442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9326G>T
AA Mutation p.Arg3109Ile(p.R3109I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140541002:140541002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754008978
CDS Mutation c.7484G>A
AA Mutation p.Arg2495Gln(p.R2495Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140851709:140851709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4654G>A
AA Mutation p.Ala1552Thr(p.A1552T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141062205:141062205(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773016706
CDS Mutation c.1082G>A
AA Mutation p.Arg361Gln(p.R361Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141049009:141049009(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1766A>G
AA Mutation p.Glu589Gly(p.E589G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140321997:140321997(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12606G>C
AA Mutation p.Leu4202Phe(p.L4202F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140702172:140702172(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6271G>C
AA Mutation p.Val2091Leu(p.V2091L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140601625:140601625(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6814G>A
AA Mutation p.Glu2272Lys(p.E2272K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140868120:140868120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4313G>T
AA Mutation p.Arg1438Met(p.R1438M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140700458:140700458(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6591A>C
AA Mutation p.Leu2197Phe(p.L2197F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140444424:140444424(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10200A>T
AA Mutation p.Gln3400His(p.Q3400H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140487645:140487645(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9215G>A
AA Mutation p.Arg3072Lys(p.R3072K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886198:140886198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3904C>A
AA Mutation p.Leu1302Ile(p.L1302I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140867804:140867804(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4365T>G
AA Mutation p.Asp1455Glu(p.D1455E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141049184:141049184(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371410109
CDS Mutation c.1591C>T
AA Mutation p.Arg531Cys(p.R531C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140323916:140323916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12491C>A
AA Mutation p.Ser4164Tyr(p.S4164Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140356444:140356444(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11428A>C
AA Mutation p.Asn3810His(p.N3810H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140526244:140526244(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7869G>T
AA Mutation p.Lys2623Asn(p.K2623N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140541839:140541839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7327C>A
AA Mutation p.Arg2443Ser(p.R2443S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140444655:140444655(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10082G>A
AA Mutation p.Arg3361Gln(p.R3361Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140702279:140702279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6164A>T
AA Mutation p.Tyr2055Phe(p.Y2055F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886197:140886197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3905T>C
AA Mutation p.Leu1302Pro(p.L1302P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140514660:140514660(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8262C>A
AA Mutation p.Ser2754Arg(p.S2754R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140323911:140323911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12496C>T
AA Mutation p.Arg4166Cys(p.R4166C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140364693:140364693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11099G>T
AA Mutation p.Gly3700Val(p.G3700V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140510011:140510011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143765896
CDS Mutation c.8315G>A
AA Mutation p.Arg2772His(p.R2772H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140526277:140526277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7836G>T
AA Mutation p.Gln2612His(p.Q2612H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140534036:140534036(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7747G>A
AA Mutation p.Glu2583Lys(p.E2583K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140601520:140601520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6919G>A
AA Mutation p.Asp2307Asn(p.D2307N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140850321:140850321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4720A>G
AA Mutation p.Lys1574Glu(p.K1574E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140883860:140883860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4126G>A
AA Mutation p.Ala1376Thr(p.A1376T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140989619:140989619(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2683A>G
AA Mutation p.Asn895Asp(p.N895D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141229405:141229405(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.628A>C
AA Mutation p.Asn210His(p.N210H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140886300:140886300(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3802C>G
AA Mutation p.His1268Asp(p.H1268D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140334472:140334472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12204G>T
AA Mutation p.Lys4068Asn(p.K4068N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140358938:140358938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11140C>A
AA Mutation p.Leu3714Ile(p.L3714I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140716781:140716781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5794A>G
AA Mutation p.Asn1932Asp(p.N1932D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140770900:140770900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5607G>T
AA Mutation p.Lys1869Asn(p.K1869N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389484
Start 140813804:140813804(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5212C>A
AA Mutation p.Leu1738Ile(p.L1738I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 141049112:141049112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1663C>A
AA Mutation p.Leu555Met(p.L555M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000389484
Start 140700454:140700454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6595A>C
AA Mutation p.Ser2199Arg(p.S2199R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140702469:140702469(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6108C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140850133:140850133(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368565366
CDS Mutation c.4908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140994017:140994017(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775728525
CDS Mutation c.2622C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140541834:140541834(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376385168
CDS Mutation c.7332C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140989563:140989563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2739C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140297911:140297911(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12864C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140358013:140358013(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs35757222
CDS Mutation c.11361C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140370806:140370806(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10912C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000389484
Start 140886313:140886313(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3789C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140867817:140867817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4352C>G
AA Mutation p.Ser1451Ter(p.S1451*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140601567:140601567(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6872C>A
AA Mutation p.Ser2291Ter(p.S2291*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140358825:140358825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11253T>A
AA Mutation p.Cys3751Ter(p.C3751*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140335652:140335652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12079G>T
AA Mutation p.Gly4027Ter(p.G4027*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000389484
Start 140867788:140867788(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4381G>T
AA Mutation p.Glu1461Ter(p.E1461*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000389484
Start 140485468:140485469(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9299dupA
AA Mutation p.Asn3100LysfsTer6(p.N3100Kfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence splice_donor_variant
Transcription ID ENST00000389484
Start 140598629:140598629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7194+2T>C
Mutation Classification Splice_Site
Feature Type Transcript