Primary Site >> Stomach Cancer

Gene >> KMT2C

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163385:152163385(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746034306
CDS Mutation c.10192C>T
AA Mutation p.Arg3398Trp(p.R3398W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152177964:152177964(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150994342
CDS Mutation c.7489C>T
AA Mutation p.Arg2497Cys(p.R2497C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152180754:152180754(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7106A>G
AA Mutation p.Asn2369Ser(p.N2369S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152199368:152199368(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4184A>G
AA Mutation p.Tyr1395Cys(p.Y1395C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152199430:152199430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4122T>A
AA Mutation p.Asp1374Glu(p.D1374E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152176851:152176851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8602A>G
AA Mutation p.Thr2868Ala(p.T2868A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152176496:152176496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755062207
CDS Mutation c.8957G>A
AA Mutation p.Gly2986Asp(p.G2986D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148868:152148868(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13059A>C
AA Mutation p.Arg4353Ser(p.R4353S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152177924:152177924(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7529T>C
AA Mutation p.Val2510Ala(p.V2510A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152248588:152248588(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1846G>A
AA Mutation p.Glu616Lys(p.E616K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148105:152148105(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764910946
CDS Mutation c.13822C>T
AA Mutation p.Arg4608Cys(p.R4608C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152144813:152144813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14243C>T
AA Mutation p.Ala4748Val(p.A4748V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152180020:152180020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7256C>A
AA Mutation p.Pro2419His(p.P2419H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152194077:152194077(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778491
CDS Mutation c.4592C>T
AA Mutation p.Ala1531Val(p.A1531V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152177706:152177706(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7747G>C
AA Mutation p.Glu2583Gln(p.E2583Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148629:152148629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13298C>T
AA Mutation p.Ala4433Val(p.A4433V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152169238:152169238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9465A>G
AA Mutation p.Ile3155Met(p.I3155M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152139256:152139256(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14464C>T
AA Mutation p.Arg4822Cys(p.R4822C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152330616:152330616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.374T>C
AA Mutation p.Val125Ala(p.V125A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152182242:152182242(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5618C>A
AA Mutation p.Thr1873Asn(p.T1873N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148407:152148407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13520A>G
AA Mutation p.Lys4507Arg(p.K4507R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162725:152162725(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10852T>A
AA Mutation p.Ser3618Thr(p.S3618T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152167375:152167375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9521A>T
AA Mutation p.Asp3174Val(p.D3174V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152263090:152263090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1225T>C
AA Mutation p.Cys409Arg(p.C409R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148281:152148281(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13646G>A
AA Mutation p.Arg4549His(p.R4549H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152156230:152156230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11787A>C
AA Mutation p.Lys3929Asn(p.K3929N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152138887:152138887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14552G>A
AA Mutation p.Cys4851Tyr(p.C4851Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163783:152163783(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9794A>G
AA Mutation p.Tyr3265Cys(p.Y3265C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152181547:152181547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6313G>A
AA Mutation p.Val2105Met(p.V2105M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152194557:152194557(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4390G>A
AA Mutation p.Val1464Ile(p.V1464I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152230227:152230227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2864T>C
AA Mutation p.Leu955Ser(p.L955S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152181990:152181990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372410972
CDS Mutation c.5870C>T
AA Mutation p.Thr1957Met(p.T1957M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152311816:152311816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.721G>T
AA Mutation p.Ala241Ser(p.A241S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152187721:152187721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4787A>G
AA Mutation p.Asp1596Gly(p.D1596G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163489:152163489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10088G>A
AA Mutation p.Cys3363Tyr(p.C3363Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163822:152163822(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9755G>A
AA Mutation p.Arg3252His(p.R3252H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152265098:152265098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1124T>G
AA Mutation p.Val375Gly(p.V375G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152194084:152194084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4585A>T
AA Mutation p.Ser1529Cys(p.S1529C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163439:152163439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10138C>T
AA Mutation p.Pro3380Ser(p.P3380S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148630:152148630(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759582255
CDS Mutation c.13297G>A
AA Mutation p.Ala4433Thr(p.A4433T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162569:152162569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11008A>G
AA Mutation p.Asn3670Asp(p.N3670D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148069:152148069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13858C>G
AA Mutation p.His4620Asp(p.H4620D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162610:152162610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10967C>T
AA Mutation p.Ala3656Val(p.A3656V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152263059:152263059(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1256A>G
AA Mutation p.Gln419Arg(p.Q419R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162263:152162263(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11314T>A
AA Mutation p.Ser3772Thr(p.S3772T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152181345:152181345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6515A>G
AA Mutation p.Asp2172Gly(p.D2172G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152235826:152235826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2760A>G
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152309999:152309999(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143544942
CDS Mutation c.816C>T
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152158920:152158920(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369567780
CDS Mutation c.11613C>T
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152194510:152194510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4437T>C
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152220596:152220596(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761630870
CDS Mutation c.3639C>T
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152187732:152187732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4776C>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152177665:152177665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7788G>A
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152148973:152148973(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189172605
CDS Mutation c.12954C>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152177596:152177596(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775204435
CDS Mutation c.7857A>G
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152330624:152330624(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.366T>C
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152230250:152230250(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2841T>C
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152181335:152181335(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6525T>C
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152195965:152195965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4320A>G
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152174154:152174154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9351C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152148127:152148127(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767722036
CDS Mutation c.13800C>T
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152183151:152183151(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5088delA
AA Mutation p.Ala1697ProfsTer20(p.A1697Pfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152177063:152177063(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs747256476
CDS Mutation c.8390delA
AA Mutation p.Lys2797ArgfsTer26(p.K2797Rfs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152148874:152148874(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13053delA
AA Mutation p.Lys4351AsnfsTer5(p.K4351Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152148439:152148439(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13488delT
AA Mutation p.Phe4496LeufsTer21(p.F4496Lfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152315301:152315301(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.427delA
AA Mutation p.Ser143ValfsTer3(p.S143Vfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152176571:152176572(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8881_8882delCC
AA Mutation p.Pro2961TrpfsTer6(p.P2961Wfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152177829:152177829(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7624delT
AA Mutation p.Ser2542HisfsTer20(p.S2542Hfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 69
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000262189
Start 152154267:152154267(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12139delA
AA Mutation p.Ser4047ValfsTer36(p.S4047Vfs*36)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152148234:152148234(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13693delC
AA Mutation p.Gln4565ArgfsTer61(p.Q4565Rfs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152181825:152181825(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6035delC
AA Mutation p.Pro2012LeufsTer20(p.P2012Lfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152182068:152182068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5792C>A
AA Mutation p.Ser1931Ter(p.S1931*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152183081:152183081(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5158C>T
AA Mutation p.Gln1720Ter(p.Q1720*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152177628:152177628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7825C>T
AA Mutation p.Arg2609Ter(p.R2609*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152146659:152146659(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13971T>A
AA Mutation p.Tyr4657Ter(p.Y4657*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152181778:152181778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6082C>T
AA Mutation p.Arg2028Ter(p.R2028*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152177625:152177625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7828C>T
AA Mutation p.Arg2610Ter(p.R2610*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152181664:152181664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6196C>T
AA Mutation p.Arg2066Ter(p.R2066*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152163229:152163229(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10348C>T
AA Mutation p.Gln3450Ter(p.Q3450*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152358671:152358671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.166C>T
AA Mutation p.Arg56Ter(p.R56*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152176818:152176819(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8633_8634dupTT
AA Mutation p.Glu2879LeufsTer28(p.E2879Lfs*28)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152145242:152145243(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.14078_14084dupGAAATCC
AA Mutation p.Leu4696LysfsTer11(p.L4696Kfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152177007:152177008(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8445dupA
AA Mutation p.Ser2816IlefsTer6(p.S2816Ifs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152180984:152180985(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6875dupC
AA Mutation p.Ser2293IlefsTer5(p.S2293Ifs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152158923:152158924(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11609dupA
AA Mutation p.Asp3871GlyfsTer11(p.D3871Gfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152177615:152177616(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7837dupC
AA Mutation p.Gln2613ProfsTer5(p.Q2613Pfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152176568:152176569(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8884_8885insTTTTGGATAAT
AA Mutation p.Gly2962ValfsTer12(p.G2962Vfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 88
Mutation Consequence splice_donor_variant
Transcription ID ENST00000262189
Start 152144711:152144711(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14343+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 89
Mutation Consequence splice_donor_variant
Transcription ID ENST00000262189
Start 152169184:152169184(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9517+2T>C
Mutation Classification Splice_Site
Feature Type Transcript