Primary Site >> Pancreatic Cancer

Gene >> TTN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178778913:178778913(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144011561
CDS Mutation c.4169C>T
AA Mutation p.Pro1390Leu(p.P1390L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579960:178579960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62404C>T
AA Mutation p.Arg20802Cys(p.R20802C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571559:178571559(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69650T>A
AA Mutation p.Ile23217Asn(p.I23217N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776123:178776123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374203813
CDS Mutation c.5741C>T
AA Mutation p.Ala1914Val(p.A1914V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734497:178734497(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14376C>G
AA Mutation p.Phe4792Leu(p.F4792L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575823:178575823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.65386G>A
AA Mutation p.Gly21796Ser(p.G21796S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618368:178618368(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757663389
CDS Mutation c.42167G>A
AA Mutation p.Arg14056His(p.R14056H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591253:178591253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375009570
CDS Mutation c.55549G>A
AA Mutation p.Gly18517Ser(p.G18517S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572070:178572070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771595253
CDS Mutation c.69139C>T
AA Mutation p.Arg23047Cys(p.R23047C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564485:178564485(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371910831
CDS Mutation c.76724G>A
AA Mutation p.Arg25575His(p.R25575H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178681697:178681697(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775021272
CDS Mutation c.32185C>T
AA Mutation p.Pro10729Ser(p.P10729S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178733085:178733085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200941841
CDS Mutation c.15140G>A
AA Mutation p.Arg5047His(p.R5047H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776609:178776609(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150737838
CDS Mutation c.5255G>A
AA Mutation p.Arg1752His(p.R1752H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718391:178718391(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23764G>A
AA Mutation p.Ala7922Thr(p.A7922T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178529111:178529111(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.101717C>A
AA Mutation p.Ser33906Tyr(p.S33906Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531466:178531466(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.100226G>T
AA Mutation p.Arg33409Ile(p.R33409I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532117:178532117(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.99575C>T
AA Mutation p.Ala33192Val(p.A33192V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178538807:178538807(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771594208
CDS Mutation c.94099C>T
AA Mutation p.Leu31367Phe(p.L31367F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539047:178539047(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93965T>G
AA Mutation p.Val31322Gly(p.V31322G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542745:178542745(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146098114
CDS Mutation c.92186C>A
AA Mutation p.Thr30729Asn(p.T30729N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546343:178546343(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.90065C>A
AA Mutation p.Ser30022Tyr(p.S30022Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548178:178548178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88525C>T
AA Mutation p.Leu29509Phe(p.L29509F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552544:178552544(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.85433C>T
AA Mutation p.Pro28478Leu(p.P28478L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553928:178553928(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.84260C>T
AA Mutation p.Ala28087Val(p.A28087V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554159:178554159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.84029C>A
AA Mutation p.Thr28010Asn(p.T28010N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554644:178554644(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.83780A>G
AA Mutation p.His27927Arg(p.H27927R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554945:178554945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143193258
CDS Mutation c.83591G>A
AA Mutation p.Arg27864His(p.R27864H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558064:178558064(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82367C>T
AA Mutation p.Ala27456Val(p.A27456V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565726:178565726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.75483G>T
AA Mutation p.Glu25161Asp(p.E25161D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568323:178568323(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72886G>A
AA Mutation p.Val24296Ile(p.V24296I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568956:178568956(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72253G>A
AA Mutation p.Gly24085Ser(p.G24085S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569211:178569211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549745098
CDS Mutation c.71998C>T
AA Mutation p.Arg24000Cys(p.R24000C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579732:178579732(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.62542G>A
AA Mutation p.Asp20848Asn(p.D20848N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592092:178592092(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755204306
CDS Mutation c.54889G>A
AA Mutation p.Ala18297Thr(p.A18297T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593005:178593005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503590
CDS Mutation c.54191G>A
AA Mutation p.Arg18064His(p.R18064H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593675:178593675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53702C>T
AA Mutation p.Ser17901Phe(p.S17901F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597754:178597754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.52405A>T
AA Mutation p.Ile17469Phe(p.I17469F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597926:178597926(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.52321G>A
AA Mutation p.Glu17441Lys(p.E17441K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599017:178599017(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572453785
CDS Mutation c.51770G>A
AA Mutation p.Arg17257His(p.R17257H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178601890:178601890(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50371G>A
AA Mutation p.Asp16791Asn(p.D16791N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605140:178605140(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531242797
CDS Mutation c.49114G>A
AA Mutation p.Ala16372Thr(p.A16372T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609543:178609543(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46844G>T
AA Mutation p.Ser15615Ile(p.S15615I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178613887:178613887(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755998484
CDS Mutation c.44473G>A
AA Mutation p.Ala14825Thr(p.A14825T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616545:178616545(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43323T>G
AA Mutation p.Asp14441Glu(p.D14441E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620568:178620568(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41030C>T
AA Mutation p.Ser13677Phe(p.S13677F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178682739:178682739(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372118864
CDS Mutation c.32101C>T
AA Mutation p.Arg10701Trp(p.R10701W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178702606:178702606(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29330C>T
AA Mutation p.Ser9777Phe(p.S9777F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704651:178704651(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28870C>A
AA Mutation p.Leu9624Met(p.L9624M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178710874:178710874(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27272C>A
AA Mutation p.Ala9091Asp(p.A9091D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712744:178712744(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26330G>A
AA Mutation p.Ser8777Asn(p.S8777N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720195:178720195(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22496C>T
AA Mutation p.Ala7499Val(p.A7499V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178724371:178724371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20053A>G
AA Mutation p.Ile6685Val(p.I6685V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178728892:178728892(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18195A>C
AA Mutation p.Gln6065His(p.Q6065H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178733341:178733341(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15001C>A
AA Mutation p.Leu5001Ile(p.L5001I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741429:178741429(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10853C>A
AA Mutation p.Pro3618His(p.P3618H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178766473:178766473(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775137389
CDS Mutation c.9611G>A
AA Mutation p.Arg3204Gln(p.R3204Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774263:178774263(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7001G>T
AA Mutation p.Gly2334Val(p.G2334V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775821:178775821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776534823
CDS Mutation c.6043G>A
AA Mutation p.Ala2015Thr(p.A2015T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704708:178704708(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28813G>A
AA Mutation p.Asp9605Asn(p.D9605N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740188:178740188(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140847585
CDS Mutation c.12094G>A
AA Mutation p.Val4032Met(p.V4032M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773352:178773352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7612G>A
AA Mutation p.Gly2538Ser(p.G2538S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718967:178718967(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23282C>A
AA Mutation p.Pro7761Gln(p.P7761Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611830:178611830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503620
CDS Mutation c.45556C>T
AA Mutation p.Arg15186Trp(p.R15186W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599589:178599589(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51389G>T
AA Mutation p.Gly17130Val(p.G17130V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548444:178548444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504923
CDS Mutation c.88259G>A
AA Mutation p.Arg29420His(p.R29420H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178790835:178790835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1673A>G
AA Mutation p.Glu558Gly(p.E558G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567140:178567140(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758190406
CDS Mutation c.74069G>A
AA Mutation p.Arg24690Gln(p.R24690Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602042:178602042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50306C>T
AA Mutation p.Ser16769Leu(p.S16769L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178672417:178672417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33798C>T
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712191:178712191(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs541105227
CDS Mutation c.26688G>A
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178542382:178542382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.92451G>A
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565351:178565351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747688310
CDS Mutation c.75858C>T
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178530781:178530781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.100911G>A
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178536280:178536280(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794727540
CDS Mutation c.95544T>C
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178561199:178561199(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757013679
CDS Mutation c.80010C>T
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178594202:178594202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370091658
CDS Mutation c.53268G>A
Mutation Classification Silent
Feature Type Transcript
ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178601095:178601095(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750472100
CDS Mutation c.50886G>A
Mutation Classification Silent
Feature Type Transcript
ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178652139:178652139(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34731G>A
Mutation Classification Silent
Feature Type Transcript
ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178685560:178685560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31399C>T
Mutation Classification Silent
Feature Type Transcript
ID 80
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782301:178782301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3291G>T
Mutation Classification Silent
Feature Type Transcript
ID 81
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782897:178782897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3009C>A
Mutation Classification Silent
Feature Type Transcript
ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776779:178776779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5085T>C
Mutation Classification Silent
Feature Type Transcript
ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178715131:178715131(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505250
CDS Mutation c.25104C>T
Mutation Classification Silent
Feature Type Transcript
ID 84
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178532816:178532816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98876G>A
AA Mutation p.Trp32959Ter(p.W32959*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 85
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178569944:178569944(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71265C>A
AA Mutation p.Tyr23755Ter(p.Y23755*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 86
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178704219:178704219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29200C>T
AA Mutation p.Arg9734Ter(p.R9734*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 87
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178709627:178709627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27741C>A
AA Mutation p.Tyr9247Ter(p.Y9247*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178722466:178722466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746136883
CDS Mutation c.21370C>T
AA Mutation p.Arg7124Ter(p.R7124*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178528652:178528660(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.102168_102176delACTCTCAGA
AA Mutation p.Glu34056_Ser34058del(p.E34056_S34058del)
Mutation Classification In_Frame_Del
Feature Type Transcript