Primary Site >> Stomach Cancer

Gene >> ANK3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60076064:60076064(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4817C>T
AA Mutation p.Thr1606Met(p.T1606M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60071298:60071298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9583G>T
AA Mutation p.Gly3195Cys(p.G3195C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60069725:60069725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748061808
CDS Mutation c.11156G>A
AA Mutation p.Arg3719His(p.R3719H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60073865:60073865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7016A>G
AA Mutation p.Gln2339Arg(p.Q2339R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000280772
Start 60086677:60086677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3748G>T
AA Mutation p.Gly1250Trp(p.G1250W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60166650:60166650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190358169
CDS Mutation c.2555G>A
AA Mutation p.Arg852His(p.R852H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60071143:60071143(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9738T>A
AA Mutation p.Asn3246Lys(p.N3246K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60074019:60074019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6862A>G
AA Mutation p.Lys2288Glu(p.K2288E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60068667:60068667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140830125
CDS Mutation c.12214G>A
AA Mutation p.Gly4072Ser(p.G4072S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60109028:60109028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2975C>T
AA Mutation p.Ala992Val(p.A992V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60108848:60108848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3155C>T
AA Mutation p.Ala1052Val(p.A1052V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60134348:60134348(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2764T>C
AA Mutation p.Ser922Pro(p.S922P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60114235:60114235(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375406302
CDS Mutation c.2938A>G
AA Mutation p.Ile980Val(p.I980V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60073026:60073026(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7855A>G
AA Mutation p.Lys2619Glu(p.K2619E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60172367:60172367(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757859236
CDS Mutation c.2419G>A
AA Mutation p.Gly807Ser(p.G807S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60069116:60069116(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11765A>T
AA Mutation p.Asn3922Ile(p.N3922I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60074549:60074549(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6332C>T
AA Mutation p.Ser2111Phe(p.S2111F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60080573:60080573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763194402
CDS Mutation c.4396C>T
AA Mutation p.Arg1466Cys(p.R1466C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60138976:60138976(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768866559
CDS Mutation c.2726C>T
AA Mutation p.Ala909Val(p.A909V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60205818:60205818(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139379111
CDS Mutation c.1267G>A
AA Mutation p.Gly423Ser(p.G423S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60134337:60134337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2775G>T
AA Mutation p.Leu925Phe(p.L925F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60075434:60075434(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5447C>G
AA Mutation p.Thr1816Ser(p.T1816S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60172390:60172390(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2396C>T
AA Mutation p.Ala799Val(p.A799V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60109002:60109002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372646492
CDS Mutation c.3001C>T
AA Mutation p.Arg1001Cys(p.R1001C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60181409:60181409(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2104C>T
AA Mutation p.His702Tyr(p.H702Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60069731:60069731(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11150A>C
AA Mutation p.Lys3717Thr(p.K3717T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60076442:60076442(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758415345
CDS Mutation c.4439G>A
AA Mutation p.Arg1480Gln(p.R1480Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60072168:60072168(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757636476
CDS Mutation c.8713C>T
AA Mutation p.Arg2905Cys(p.R2905C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60073538:60073538(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7343A>G
AA Mutation p.Tyr2448Cys(p.Y2448C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60072448:60072448(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8433A>C
AA Mutation p.Lys2811Asn(p.K2811N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60075218:60075218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5663A>C
AA Mutation p.Lys1888Thr(p.K1888T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60088211:60088211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3476T>C
AA Mutation p.Val1159Ala(p.V1159A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60173111:60173111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2260G>C
AA Mutation p.Ala754Pro(p.A754P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60055766:60055766(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12957A>C
AA Mutation p.Lys4319Asn(p.K4319N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60086697:60086697(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767721464
CDS Mutation c.3728G>A
AA Mutation p.Arg1243His(p.R1243H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60068828:60068828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12053A>G
AA Mutation p.Glu4018Gly(p.E4018G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60074093:60074093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6788C>T
AA Mutation p.Ala2263Val(p.A2263V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60086698:60086698(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3727C>T
AA Mutation p.Arg1243Cys(p.R1243C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60069972:60069972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10909C>T
AA Mutation p.His3637Tyr(p.H3637Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60279582:60279582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.172C>A
AA Mutation p.Leu58Ile(p.L58I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60074165:60074165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780501756
CDS Mutation c.6716G>A
AA Mutation p.Arg2239His(p.R2239H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60067976:60067976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12278G>T
AA Mutation p.Arg4093Met(p.R4093M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60076138:60076138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4743A>G
AA Mutation p.Ile1581Met(p.I1581M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60069759:60069759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11122G>T
AA Mutation p.Ala3708Ser(p.A3708S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000280772
Start 60261859:60261859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.798G>C
AA Mutation p.Arg266Ser(p.R266S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60072851:60072851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8030T>C
AA Mutation p.Val2677Ala(p.V2677A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60055848:60055848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12875A>G
AA Mutation p.His4292Arg(p.H4292R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60263965:60263965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.569C>T
AA Mutation p.Ser190Leu(p.S190L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60073781:60073781(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775210756
CDS Mutation c.7100G>A
AA Mutation p.Arg2367Gln(p.R2367Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60085202:60085202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753652746
CDS Mutation c.3800C>T
AA Mutation p.Thr1267Met(p.T1267M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000280772
Start 60084810:60084810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777500859
CDS Mutation c.3866A>G
AA Mutation p.His1289Arg(p.H1289R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60198385:60198385(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537093045
CDS Mutation c.1644C>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60072139:60072139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8742A>C
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60181341:60181341(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781145806
CDS Mutation c.2172C>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60071913:60071913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8968C>T
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60076216:60076216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs554877557
CDS Mutation c.4665G>A
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60084788:60084788(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3888G>A
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60055757:60055757(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12966G>A
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60073879:60073879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369714799
CDS Mutation c.7002C>T
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60068944:60068944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11937C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60074527:60074527(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116585069
CDS Mutation c.6354C>T
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60261883:60261883(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146748344
CDS Mutation c.774G>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60083549:60083549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769924546
CDS Mutation c.4143G>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60076183:60076183(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774722301
CDS Mutation c.4698C>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60196228:60196228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1804C>T
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60055760:60055760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12963T>C
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000280772
Start 60173154:60173154(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2217C>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60071532:60071532(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9349delA
AA Mutation p.Ile3117SerfsTer2(p.I3117Sfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60064188:60064188(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12420delA
AA Mutation p.Lys4140AsnfsTer15(p.K4140Nfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60279566:60279566(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.188delA
AA Mutation p.Asn63MetfsTer13(p.N63Mfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60075950:60075950(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4931delC
AA Mutation p.Pro1644LeufsTer27(p.P1644Lfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60389463:60389463(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.76delA
AA Mutation p.Arg26GlyfsTer21(p.R26Gfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60042725:60042726(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13099_13100delGA
AA Mutation p.Glu4367AsnfsTer27(p.E4367Nfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence stop_gained
Transcription ID ENST00000280772
Start 60261888:60261888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.769C>T
AA Mutation p.Arg257Ter(p.R257*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000280772
Start 60088161:60088161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142673853
CDS Mutation c.3526C>T
AA Mutation p.Arg1176Ter(p.R1176*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000280772
Start 60073068:60073068(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7813G>T
AA Mutation p.Glu2605Ter(p.E2605*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60234752:60234753(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.832dupA
AA Mutation p.Arg278LysfsTer16(p.R278Kfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60074458:60074459(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6422dupC
AA Mutation p.Gln2142ThrfsTer4(p.Q2142Tfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60072447:60072448(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8433dupA
AA Mutation p.Gln2812ThrfsTer4(p.Q2812Tfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000280772
Start 60069323:60069324(version: GRCh38)
Mutation Type INS
dbSNP_RS rs774837819
CDS Mutation c.11557dupA
AA Mutation p.Thr3853AsnfsTer8(p.T3853Nfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 81
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000280772
Start 60068011:60068011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12245-2A>G
Mutation Classification Splice_Site
Feature Type Transcript