Primary Site >> Stomach Cancer

Gene >> KIAA1109

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122239839:122239839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4157T>C
AA Mutation p.Met1386Thr(p.M1386T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122331331:122331331(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371627735
CDS Mutation c.11255C>T
AA Mutation p.Thr3752Met(p.T3752M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122250524:122250524(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5873G>A
AA Mutation p.Arg1958Gln(p.R1958Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122175876:122175876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.320G>A
AA Mutation p.Arg107Gln(p.R107Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122255188:122255188(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528587230
CDS Mutation c.6283C>T
AA Mutation p.Arg2095Cys(p.R2095C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122306027:122306027(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9823C>G
AA Mutation p.Pro3275Ala(p.P3275A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122286585:122286585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9082C>T
AA Mutation p.Arg3028Cys(p.R3028C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122281682:122281682(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8945C>A
AA Mutation p.Ala2982Asp(p.A2982D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122344513:122344513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12685G>T
AA Mutation p.Val4229Leu(p.V4229L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122271404:122271404(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7880G>A
AA Mutation p.Gly2627Glu(p.G2627E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122258833:122258833(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6752T>C
AA Mutation p.Leu2251Ser(p.L2251S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122344477:122344477(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12649C>T
AA Mutation p.Arg4217Cys(p.R4217C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122353074:122353074(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14020C>T
AA Mutation p.Arg4674Cys(p.R4674C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122224559:122224559(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2675T>C
AA Mutation p.Leu892Pro(p.L892P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122240337:122240337(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4655C>A
AA Mutation p.Ser1552Tyr(p.S1552Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122186090:122186090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.413T>C
AA Mutation p.Val138Ala(p.V138A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122262945:122262945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6944G>A
AA Mutation p.Ser2315Asn(p.S2315N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122333766:122333766(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11603A>G
AA Mutation p.Asp3868Gly(p.D3868G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122336280:122336280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11937T>A
AA Mutation p.Ser3979Arg(p.S3979R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122271482:122271482(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7958G>A
AA Mutation p.Arg2653Gln(p.R2653Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122262806:122262806(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6805A>G
AA Mutation p.Thr2269Ala(p.T2269A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122306022:122306022(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9818C>T
AA Mutation p.Ala3273Val(p.A3273V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122186063:122186063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.386T>C
AA Mutation p.Ile129Thr(p.I129T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122170706:122170706(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59T>G
AA Mutation p.Leu20Arg(p.L20R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122226807:122226807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2894G>T
AA Mutation p.Gly965Val(p.G965V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122199422:122199422(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759889686
CDS Mutation c.1352G>A
AA Mutation p.Arg451Gln(p.R451Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122347677:122347677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13027A>G
AA Mutation p.Met4343Val(p.M4343V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122226819:122226819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369532932
CDS Mutation c.2906G>A
AA Mutation p.Arg969Gln(p.R969Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122255227:122255227(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6322A>G
AA Mutation p.Ile2108Val(p.I2108V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122344516:122344516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12688A>G
AA Mutation p.Ser4230Gly(p.S4230G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122349867:122349867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13642G>T
AA Mutation p.Val4548Phe(p.V4548F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122196762:122196762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1180A>G
AA Mutation p.Thr394Ala(p.T394A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122209264:122209264(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1858A>C
AA Mutation p.Thr620Pro(p.T620P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122174627:122174627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.268T>C
AA Mutation p.Tyr90His(p.Y90H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122266814:122266814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7349G>T
AA Mutation p.Gly2450Val(p.G2450V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122272369:122272369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8410A>T
AA Mutation p.Ile2804Phe(p.I2804F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122281564:122281564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8827A>G
AA Mutation p.Thr2943Ala(p.T2943A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122349981:122349981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13756A>G
AA Mutation p.Thr4586Ala(p.T4586A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122255183:122255183(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6278T>C
AA Mutation p.Val2093Ala(p.V2093A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122239846:122239846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4164G>A
AA Mutation p.Met1388Ile(p.M1388I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122220358:122220358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2501G>A
AA Mutation p.Cys834Tyr(p.C834Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122240340:122240340(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4658T>C
AA Mutation p.Val1553Ala(p.V1553A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122249673:122249673(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5701A>G
AA Mutation p.Thr1901Ala(p.T1901A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122334450:122334450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11753A>G
AA Mutation p.Asp3918Gly(p.D3918G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122249613:122249613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5641A>G
AA Mutation p.Ile1881Val(p.I1881V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122353939:122353939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767116983
CDS Mutation c.14227C>T
AA Mutation p.Arg4743Cys(p.R4743C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122281586:122281586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8849C>A
AA Mutation p.Thr2950Asn(p.T2950N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122316807:122316807(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765987499
CDS Mutation c.10615C>T
AA Mutation p.Arg3539Cys(p.R3539C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122219556:122219556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755343294
CDS Mutation c.2464C>T
AA Mutation p.Arg822Cys(p.R822C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000264501
Start 122239965:122239965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4283A>G
AA Mutation p.Tyr1428Cys(p.Y1428C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122246208:122246208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750412331
CDS Mutation c.5094G>A
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122240086:122240086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766742592
CDS Mutation c.4404G>A
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122262880:122262880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6879A>T
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122220344:122220344(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2487T>C
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122362155:122362155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14926C>T
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122199405:122199405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1335T>C
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122239579:122239579(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3897T>C
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122352965:122352965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13911C>T
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122316836:122316836(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10644A>G
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122308127:122308127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10020G>A
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122271495:122271495(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7971A>G
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122355926:122355926(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14436A>G
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122331446:122331446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11370C>T
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122226808:122226808(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2895A>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122240107:122240107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4425T>C
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122235007:122235007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3558T>C
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122254233:122254233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5961A>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122186121:122186121(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.444T>C
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000264501
Start 122336909:122336909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12039A>G
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122281580:122281580(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8848delA
AA Mutation p.Thr2950ProfsTer22(p.T2950Pfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122219383:122219392(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2292_2301delGGTTATCTCA
AA Mutation p.Ile766LeufsTer78(p.I766Lfs*78)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122344495:122344495(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12672delT
AA Mutation p.Phe4224LeufsTer6(p.F4224Lfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122224504:122224504(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2624delC
AA Mutation p.Pro875LeufsTer18(p.P875Lfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122347720:122347742(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13071_13093delAAAATCCCCAGCTTCCATAAGAT
AA Mutation p.Ser4359GlufsTer4(p.S4359Efs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000264501
Start 122262872:122262872(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6871G>T
AA Mutation p.Glu2291Ter(p.E2291*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000264501
Start 122339261:122339261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12205A>T
AA Mutation p.Lys4069Ter(p.K4069*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000264501
Start 122240088:122240088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4406T>G
AA Mutation p.Leu1469Ter(p.L1469*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000264501
Start 122249610:122249610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756528593
CDS Mutation c.5638C>T
AA Mutation p.Arg1880Ter(p.R1880*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122350053:122350054(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.13834dupA
AA Mutation p.Ser4612LysfsTer8(p.S4612Kfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122243873:122243874(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4770dupA
AA Mutation p.Leu1591ThrfsTer3(p.L1591Tfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000264501
Start 122281579:122281580(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8848dupA
AA Mutation p.Thr2950AsnfsTer6(p.T2950Nfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 82
Mutation Consequence splice_donor_variant
Transcription ID ENST00000264501
Start 122272407:122272407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8446+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 83
Mutation Consequence splice_donor_variant;intron_variant
Transcription ID ENST00000264501
Start 122219568:122219571(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2475+3_2475+6delAAGT
Mutation Classification Splice_Site
Feature Type Transcript
ID 84
Mutation Consequence splice_donor_variant
Transcription ID ENST00000264501
Start 122235025:122235025(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3574+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 85
Mutation Consequence inframe_deletion
Transcription ID ENST00000264501
Start 122315554:122315565(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.10408_10419delGCTCTGGGCAAT
AA Mutation p.Ala3470_Asn3473del(p.A3470_N3473del)
Mutation Classification In_Frame_Del
Feature Type Transcript