Primary Site >> Stomach Cancer

Gene >> DNAH8

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38974489:38974489(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371913220
CDS Mutation c.12143C>T
AA Mutation p.Pro4048Leu(p.P4048L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38860595:38860595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5446A>G
AA Mutation p.Thr1816Ala(p.T1816A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38814073:38814073(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2626T>A
AA Mutation p.Ser876Thr(p.S876T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38923103:38923103(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776294190
CDS Mutation c.10057G>A
AA Mutation p.Ala3353Thr(p.A3353T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39030261:39030261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13342T>C
AA Mutation p.Tyr4448His(p.Y4448H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38866610:38866610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139579198
CDS Mutation c.5867G>A
AA Mutation p.Arg1956His(p.R1956H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38868110:38868110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6091C>T
AA Mutation p.Leu2031Phe(p.L2031F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359357
Start 38973661:38973661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11875G>T
AA Mutation p.Gly3959Cys(p.G3959C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38883350:38883350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7379C>A
AA Mutation p.Thr2460Asn(p.T2460N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38875672:38875672(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7051G>A
AA Mutation p.Val2351Met(p.V2351M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38938082:38938082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11021T>C
AA Mutation p.Ile3674Thr(p.I3674T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38823633:38823633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3141G>T
AA Mutation p.Gln1047His(p.Q1047H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39030189:39030189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13270G>A
AA Mutation p.Val4424Ile(p.V4424I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38786926:38786926(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1906T>A
AA Mutation p.Leu636Met(p.L636M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38850280:38850280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4578G>T
AA Mutation p.Lys1526Asn(p.K1526N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38929538:38929538(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758179326
CDS Mutation c.10495C>T
AA Mutation p.Arg3499Cys(p.R3499C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38890745:38890745(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7916T>C
AA Mutation p.Leu2639Pro(p.L2639P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000359357
Start 38868194:38868194(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6175C>A
AA Mutation p.Leu2059Met(p.L2059M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38982429:38982429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12267T>G
AA Mutation p.Ile4089Met(p.I4089M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38857562:38857562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5127A>C
AA Mutation p.Glu1709Asp(p.E1709D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38781345:38781345(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546652224
CDS Mutation c.1580G>A
AA Mutation p.Arg527Gln(p.R527Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38803236:38803236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749933430
CDS Mutation c.2308G>A
AA Mutation p.Ala770Thr(p.A770T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38842707:38842707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3998T>G
AA Mutation p.Leu1333Trp(p.L1333W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38779983:38779983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1406T>A
AA Mutation p.Ile469Asn(p.I469N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38848772:38848772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4519G>A
AA Mutation p.Gly1507Ser(p.G1507S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38899792:38899792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771436783
CDS Mutation c.8429G>A
AA Mutation p.Arg2810Gln(p.R2810Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38737092:38737092(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145115573
CDS Mutation c.137C>T
AA Mutation p.Ala46Val(p.A46V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38750483:38750483(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754133293
CDS Mutation c.650G>A
AA Mutation p.Arg217His(p.R217H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38913949:38913949(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9309C>G
AA Mutation p.Asp3103Glu(p.D3103E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38935643:38935643(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769053473
CDS Mutation c.10858C>T
AA Mutation p.Arg3620Trp(p.R3620W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38870473:38870473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6250A>G
AA Mutation p.Thr2084Ala(p.T2084A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38945491:38945491(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11381C>T
AA Mutation p.Ala3794Val(p.A3794V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38863927:38863927(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776821810
CDS Mutation c.5714T>C
AA Mutation p.Leu1905Ser(p.L1905S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38741867:38741867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.622G>A
AA Mutation p.Ala208Thr(p.A208T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38815574:38815574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2789G>A
AA Mutation p.Arg930His(p.R930H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38756009:38756009(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.794C>T
AA Mutation p.Ala265Val(p.A265V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38951439:38951439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11719C>T
AA Mutation p.Arg3907Trp(p.R3907W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 39012578:39012578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375993164
CDS Mutation c.13004C>T
AA Mutation p.Thr4335Met(p.T4335M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000359357
Start 38863993:38863993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5780A>T
AA Mutation p.Lys1927Ile(p.K1927I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38734547:38734547(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202079713
CDS Mutation c.33G>A
Mutation Classification Silent
Feature Type Transcript
ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38872940:38872940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6621G>T
Mutation Classification Silent
Feature Type Transcript
ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38863907:38863907(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5694T>C
Mutation Classification Silent
Feature Type Transcript
ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38791662:38791662(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2238G>A
Mutation Classification Silent
Feature Type Transcript
ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38786898:38786898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1878A>C
Mutation Classification Silent
Feature Type Transcript
ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38872970:38872970(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775873897
CDS Mutation c.6651C>T
Mutation Classification Silent
Feature Type Transcript
ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 39030209:39030209(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13290C>T
Mutation Classification Silent
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38929573:38929573(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10530A>G
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38734586:38734586(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72C>T
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38832405:38832405(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751635902
CDS Mutation c.3621C>T
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38938119:38938119(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145061720
CDS Mutation c.11058C>A
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38931816:38931816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10629A>G
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38896120:38896120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8184T>C
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 39026655:39026655(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776969419
CDS Mutation c.13173G>A
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38823019:38823019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562018132
CDS Mutation c.3054C>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38823675:38823675(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3183T>C
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38842714:38842714(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4005C>G
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38860546:38860546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5397G>A
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38894802:38894802(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779311596
CDS Mutation c.8034C>T
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38973774:38973774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11988T>G
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38873117:38873117(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6798C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38984268:38984268(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12363A>G
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38814069:38814069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2622G>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38909709:38909709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9054C>T
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38938900:38938900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11268C>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38875788:38875788(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7167C>A
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 39030269:39030269(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13350T>C
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38923174:38923174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10128T>C
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38908033:38908033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8775T>C
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000359357
Start 38780035:38780035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1458C>T
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38775865:38775865(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1229delA
AA Mutation p.Lys410SerfsTer18(p.K410Sfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38857620:38857620(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5189delT
AA Mutation p.Leu1730TrpfsTer4(p.L1730Wfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38872741:38872741(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6550delT
AA Mutation p.Ser2184LeufsTer8(p.S2184Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38863909:38863921(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5696_5708delAGTTTAACAGAAT
AA Mutation p.Glu1899ValfsTer17(p.E1899Vfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38822842:38822842(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2880delT
AA Mutation p.Phe960LeufsTer10(p.F960Lfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38848664:38848664(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs778628413
CDS Mutation c.4418delA
AA Mutation p.Asn1473IlefsTer15(p.N1473Ifs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 76
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38770538:38770538(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1096delT
AA Mutation p.Cys366AlafsTer10(p.C366Afs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 77
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38853242:38853242(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4981delA
AA Mutation p.Met1661CysfsTer9(p.M1661Cfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38826212:38826212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760107925
CDS Mutation c.3253C>T
AA Mutation p.Arg1085Ter(p.R1085*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38842682:38842682(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3973G>T
AA Mutation p.Gly1325Ter(p.G1325*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38938012:38938012(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769929539
CDS Mutation c.10951C>T
AA Mutation p.Arg3651Ter(p.R3651*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence stop_gained
Transcription ID ENST00000359357
Start 38814064:38814064(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199969537
CDS Mutation c.2617C>T
AA Mutation p.Arg873Ter(p.R873*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000359357
Start 38918047:38918048(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9786dupA
AA Mutation p.Val3263SerfsTer23(p.V3263Sfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 83
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000359357
Start 39026545:39026545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13064-1G>T
Mutation Classification Splice_Site
Feature Type Transcript