Primary Site >> Stomach Cancer

Gene >> CUBN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17085609:17085609(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2098T>G
AA Mutation p.Leu700Val(p.L700V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16928292:16928292(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6136T>G
AA Mutation p.Leu2046Val(p.L2046V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16869779:16869779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9311C>T
AA Mutation p.Thr3104Ile(p.T3104I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16918681:16918681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6941T>C
AA Mutation p.Leu2314Ser(p.L2314S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16990378:16990378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4306T>G
AA Mutation p.Phe1436Val(p.F1436V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17071458:17071458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2593A>C
AA Mutation p.Ser865Arg(p.S865R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16915887:16915887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7144T>C
AA Mutation p.Phe2382Leu(p.F2382L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16876975:16876975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756775921
CDS Mutation c.9028G>A
AA Mutation p.Ala3010Thr(p.A3010T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16899115:16899115(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373893072
CDS Mutation c.8479G>A
AA Mutation p.Glu2827Lys(p.E2827K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16937615:16937615(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778249964
CDS Mutation c.5903G>A
AA Mutation p.Gly1968Asp(p.G1968D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16869647:16869647(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746738635
CDS Mutation c.9443G>A
AA Mutation p.Arg3148Gln(p.R3148Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16939006:16939006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767014796
CDS Mutation c.5690T>C
AA Mutation p.Met1897Thr(p.M1897T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17019871:17019871(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139600855
CDS Mutation c.4130G>A
AA Mutation p.Arg1377His(p.R1377H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16869743:16869743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9347A>T
AA Mutation p.Lys3116Met(p.K3116M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17045117:17045117(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3562A>G
AA Mutation p.Ser1188Gly(p.S1188G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16899151:16899151(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763687345
CDS Mutation c.8443A>G
AA Mutation p.Thr2815Ala(p.T2815A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16874402:16874402(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144314567
CDS Mutation c.9208G>A
AA Mutation p.Val3070Ile(p.V3070I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16913917:16913917(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201485176
CDS Mutation c.7427G>A
AA Mutation p.Arg2476Gln(p.R2476Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16925769:16925769(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759351780
CDS Mutation c.6277G>A
AA Mutation p.Gly2093Ser(p.G2093S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17019929:17019929(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750467327
CDS Mutation c.4072C>A
AA Mutation p.Pro1358Thr(p.P1358T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16851341:16851341(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9557T>C
AA Mutation p.Val3186Ala(p.V3186A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17045093:17045093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3586A>C
AA Mutation p.Lys1196Gln(p.K1196Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17103180:17103180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1475T>C
AA Mutation p.Val492Ala(p.V492A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16948549:16948549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764580471
CDS Mutation c.5138C>T
AA Mutation p.Thr1713Met(p.T1713M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17041193:17041193(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3857A>T
AA Mutation p.Gln1286Leu(p.Q1286L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16948510:16948510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5177G>A
AA Mutation p.Gly1726Asp(p.G1726D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17110955:17110955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.979A>T
AA Mutation p.Thr327Ser(p.T327S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16954473:16954473(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201056237
CDS Mutation c.4771G>A
AA Mutation p.Val1591Ile(p.V1591I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17071592:17071592(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2459A>C
AA Mutation p.Glu820Ala(p.E820A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16984239:16984239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4391A>G
AA Mutation p.Gln1464Arg(p.Q1464R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16876917:16876917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9086A>C
AA Mutation p.Lys3029Thr(p.K3029T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16869740:16869740(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs184750323
CDS Mutation c.9350G>A
AA Mutation p.Arg3117His(p.R3117H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16874495:16874495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9115G>T
AA Mutation p.Gly3039Cys(p.G3039C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16984128:16984128(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201587209
CDS Mutation c.4502C>T
AA Mutation p.Ala1501Val(p.A1501V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17110970:17110970(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575021189
CDS Mutation c.964G>A
AA Mutation p.Val322Ile(p.V322I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16851328:16851328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9570T>G
AA Mutation p.Ile3190Met(p.I3190M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16954545:16954545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4699T>C
AA Mutation p.Tyr1567His(p.Y1567H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16982558:16982558(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146824506
CDS Mutation c.4621C>T
AA Mutation p.Arg1541Trp(p.R1541W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16876919:16876919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9084C>G
AA Mutation p.Phe3028Leu(p.F3028L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17088266:17088266(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1845T>G
AA Mutation p.Asp615Glu(p.D615E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17105512:17105512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1175G>C
AA Mutation p.Cys392Ser(p.C392S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17071495:17071495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2556A>C
AA Mutation p.Gln852His(p.Q852H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16947292:16947292(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149164899
CDS Mutation c.5285T>G
AA Mutation p.Val1762Gly(p.V1762G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16952324:16952324(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4921T>C
AA Mutation p.Tyr1641His(p.Y1641H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17019968:17019968(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770413754
CDS Mutation c.4033C>T
AA Mutation p.Arg1345Trp(p.R1345W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 17084402:17084402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2170T>G
AA Mutation p.Leu724Val(p.L724V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16928171:16928171(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6257C>T
AA Mutation p.Ala2086Val(p.A2086V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000377833
Start 16925711:16925711(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6335A>G
AA Mutation p.Tyr2112Cys(p.Y2112C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16890429:16890429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8697T>C
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17109671:17109671(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763687075
CDS Mutation c.1080C>T
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16906351:16906351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368055206
CDS Mutation c.7764C>T
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17071597:17071597(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2454G>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16869751:16869751(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758802682
CDS Mutation c.9339C>T
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16876925:16876925(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140524729
CDS Mutation c.9078C>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16982531:16982531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4648T>C
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17105484:17105484(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1203T>C
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17071495:17071495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2556A>G
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16954519:16954519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4725C>A
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17045076:17045076(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112675306
CDS Mutation c.3603C>T
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16990415:16990415(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758726713
CDS Mutation c.4269G>A
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17104513:17104513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1323T>C
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16825002:16825002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146137990
CDS Mutation c.10845C>T
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16900695:16900695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751776723
CDS Mutation c.8340C>T
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17111025:17111025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543709109
CDS Mutation c.909C>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16925284:16925284(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6603T>C
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 16925692:16925692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6354T>C
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17103209:17103209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1446T>C
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17065563:17065563(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775668389
CDS Mutation c.3084C>T
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17019891:17019891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4110C>T
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17084370:17084370(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2202C>T
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000377833
Start 17041159:17041159(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758286448
CDS Mutation c.3891G>A
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 16907570:16907570(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7643delT
AA Mutation p.Phe2548SerfsTer50(p.F2548Sfs*50)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17071555:17071555(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2496delT
AA Mutation p.Pro833LeufsTer67(p.P833Lfs*67)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17043919:17043919(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3737delC
AA Mutation p.Pro1246LeufsTer12(p.P1246Lfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17071855:17071855(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2418delA
AA Mutation p.Ala807LeufsTer15(p.A807Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 16925361:16925361(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6526delT
AA Mutation p.Cys2176ValfsTer40(p.C2176Vfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17123611:17123611(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.466delT
AA Mutation p.Cys156ValfsTer27(p.C156Vfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000377833
Start 16899013:16899013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8581C>T
AA Mutation p.Gln2861Ter(p.Q2861*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence stop_gained
Transcription ID ENST00000377833
Start 16950004:16950004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769313368
CDS Mutation c.5077C>T
AA Mutation p.Arg1693Ter(p.R1693*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17123610:17123611(version: GRCh38)
Mutation Type INS
dbSNP_RS rs755846379
CDS Mutation c.466dupT
AA Mutation p.Cys156LeufsTer15(p.C156Lfs*15)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17065574:17065575(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3072dupT
AA Mutation p.Val1025CysfsTer3(p.V1025Cfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000377833
Start 17129227:17129228(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.144_145dupAG
AA Mutation p.Gly49GlufsTer26(p.G49Efs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 83
Mutation Consequence splice_donor_variant
Transcription ID ENST00000377833
Start 17105456:17105456(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs386833766
CDS Mutation c.1230+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 84
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000377833
Start 16928304:16928304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6125-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 85
Mutation Consequence splice_donor_variant
Transcription ID ENST00000377833
Start 16890370:16890370(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775045830
CDS Mutation c.8755+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 86
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000377833
Start 16940238:16940238(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5343-1G>T
Mutation Classification Splice_Site
Feature Type Transcript