Primary Site >> Stomach Cancer

Gene >> ZFHX3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72960121:72960121(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200637584
CDS Mutation c.25G>A
AA Mutation p.Val9Ile(p.V9I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72794653:72794653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8029G>A
AA Mutation p.Glu2677Lys(p.E2677K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72788464:72788464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759418149
CDS Mutation c.9812C>T
AA Mutation p.Thr3271Met(p.T3271M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72959680:72959680(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769010742
CDS Mutation c.466G>A
AA Mutation p.Ala156Thr(p.A156T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795451:72795451(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7231G>C
AA Mutation p.Ala2411Pro(p.A2411P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72957609:72957609(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755878058
CDS Mutation c.2537G>A
AA Mutation p.Arg846His(p.R846H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72788258:72788258(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764053422
CDS Mutation c.10018G>T
AA Mutation p.Gly3340Cys(p.G3340C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72794602:72794602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8080G>A
AA Mutation p.Ala2694Thr(p.A2694T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72800107:72800107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3887T>C
AA Mutation p.Met1296Thr(p.M1296T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72960055:72960055(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91C>A
AA Mutation p.His31Asn(p.H31N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72793465:72793465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149453115
CDS Mutation c.9217C>T
AA Mutation p.Arg3073Cys(p.R3073C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72796236:72796236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6446G>A
AA Mutation p.Arg2149His(p.R2149H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72959452:72959452(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752231847
CDS Mutation c.694C>T
AA Mutation p.Arg232Cys(p.R232C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795730:72795730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6952G>A
AA Mutation p.Asp2318Asn(p.D2318N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72796669:72796669(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368676441
CDS Mutation c.6013G>A
AA Mutation p.Val2005Ile(p.V2005I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72797059:72797059(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5623G>A
AA Mutation p.Glu1875Lys(p.E1875K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72959401:72959401(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745631900
CDS Mutation c.745G>A
AA Mutation p.Gly249Ser(p.G249S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72787879:72787879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10397T>C
AA Mutation p.Val3466Ala(p.V3466A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72794754:72794754(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777599986
CDS Mutation c.7928G>A
AA Mutation p.Arg2643His(p.R2643H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72798496:72798496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762462194
CDS Mutation c.4186C>T
AA Mutation p.Arg1396Cys(p.R1396C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72788830:72788830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753461356
CDS Mutation c.9446C>T
AA Mutation p.Pro3149Leu(p.P3149L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72958606:72958606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150708008
CDS Mutation c.1540G>A
AA Mutation p.Ala514Thr(p.A514T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72798375:72798375(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4307G>A
AA Mutation p.Arg1436His(p.R1436H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72797536:72797536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5146G>A
AA Mutation p.Ala1716Thr(p.A1716T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795913:72795913(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6769T>A
AA Mutation p.Leu2257Ile(p.L2257I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72796719:72796719(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5963G>A
AA Mutation p.Cys1988Tyr(p.C1988Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72957660:72957660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2486T>C
AA Mutation p.Met829Thr(p.M829T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72959004:72959004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142313117
CDS Mutation c.1142C>T
AA Mutation p.Ala381Val(p.A381V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72958989:72958989(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1157G>A
AA Mutation p.Gly386Asp(p.G386D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72797045:72797045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5637A>T
AA Mutation p.Lys1879Asn(p.K1879N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72957654:72957654(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2492A>G
AA Mutation p.Asn831Ser(p.N831S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72787195:72787195(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11081C>T
AA Mutation p.Thr3694Ile(p.T3694I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795011:72795011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7671G>T
AA Mutation p.Gln2557His(p.Q2557H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72797733:72797733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4949C>A
AA Mutation p.Ser1650Tyr(p.S1650Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72957610:72957610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141276031
CDS Mutation c.2536C>T
AA Mutation p.Arg846Cys(p.R846C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795339:72795339(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7343G>C
AA Mutation p.Gly2448Ala(p.G2448A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72797806:72797806(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4876G>A
AA Mutation p.Ala1626Thr(p.A1626T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72958516:72958516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1630T>C
AA Mutation p.Ser544Pro(p.S544P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72795009:72795009(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7673A>G
AA Mutation p.Asn2558Ser(p.N2558S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72796905:72796905(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5777G>A
AA Mutation p.Gly1926Asp(p.G1926D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72889902:72889902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3277T>C
AA Mutation p.Cys1093Arg(p.C1093R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72959968:72959968(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200390317
CDS Mutation c.178C>T
AA Mutation p.Arg60Cys(p.R60C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72793714:72793714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757947521
CDS Mutation c.8968G>A
AA Mutation p.Val2990Ile(p.V2990I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72787930:72787930(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140437495
CDS Mutation c.10346C>T
AA Mutation p.Ala3449Val(p.A3449V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000268489
Start 72788581:72788581(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9695G>A
AA Mutation p.Arg3232His(p.R3232H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72793580:72793580(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9102C>T
Mutation Classification Silent
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72959381:72959381(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752424561
CDS Mutation c.765C>T
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72787677:72787677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10599G>A
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72811709:72811709(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373469033
CDS Mutation c.3732G>A
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72795998:72795998(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6684C>A
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72950610:72950610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137984545
CDS Mutation c.3075C>T
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72958757:72958757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376777497
CDS Mutation c.1389G>A
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72787515:72787515(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776903532
CDS Mutation c.10761G>A
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72959471:72959471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.675C>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72797888:72797888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4794T>C
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72788370:72788370(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9906G>A
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72950865:72950865(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745377225
CDS Mutation c.2820G>A
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72958802:72958802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781434863
CDS Mutation c.1344C>T
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72959945:72959945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761080933
CDS Mutation c.201G>A
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72950817:72950817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2868C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72958730:72958730(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756105315
CDS Mutation c.1416G>A
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72795605:72795605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7077G>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72959216:72959216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs35466869
CDS Mutation c.930C>T
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72797066:72797066(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5616G>A
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000268489
Start 72811992:72811992(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3576C>T
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72959875:72959878(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.268_271delAGCC
AA Mutation p.Leu91ArgfsTer17(p.L91Rfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72787445:72787445(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10831delC
AA Mutation p.His3611ThrfsTer83(p.H3611Tfs*83)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72788061:72788061(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10215delC
AA Mutation p.Ala3407LeufsTer78(p.A3407Lfs*78)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72957859:72957859(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2287delG
AA Mutation p.Glu763SerfsTer61(p.E763Sfs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72794536:72794536(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8146delT
AA Mutation p.Cys2716AlafsTer30(p.C2716Afs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72957772:72957772(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2374delG
AA Mutation p.Ala792ProfsTer32(p.A792Pfs*32)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72958050:72958050(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs757302188
CDS Mutation c.2096delG
AA Mutation p.Gly699AlafsTer125(p.G699Afs*125)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72959389:72959389(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.757delA
AA Mutation p.Ser253AlafsTer30(p.S253Afs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72795686:72795686(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6996delA
AA Mutation p.Lys2332AsnfsTer44(p.K2332Nfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000268489
Start 72795862:72795862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6820C>T
AA Mutation p.Gln2274Ter(p.Q2274*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000268489
Start 72959267:72959267(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.879C>A
AA Mutation p.Tyr293Ter(p.Y293*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000268489
Start 72959437:72959437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.709C>T
AA Mutation p.Arg237Ter(p.R237*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000268489
Start 72811708:72811708(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3733C>T
AA Mutation p.Gln1245Ter(p.Q1245*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence stop_gained
Transcription ID ENST00000268489
Start 72812018:72812018(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3550A>T
AA Mutation p.Lys1184Ter(p.K1184*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72797003:72797004(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5677_5678dupAG
AA Mutation p.Asp1894GlyfsTer21(p.D1894Gfs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72957858:72957859(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2286_2287dupGG
AA Mutation p.Glu763GlyfsTer62(p.E763Gfs*62)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72957858:72957859(version: GRCh38)
Mutation Type INS
dbSNP_RS rs760959844
CDS Mutation c.2287dupG
AA Mutation p.Glu763GlyfsTer26(p.E763Gfs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000268489
Start 72788686:72788687(version: GRCh38)
Mutation Type INS
dbSNP_RS rs764626362
CDS Mutation c.9589dupC
AA Mutation p.Gln3197ProfsTer42(p.Q3197Pfs*42)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript