Primary Site >> Stomach Cancer

Gene >> SPEN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15931314:15931314(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5074G>A
AA Mutation p.Ala1692Thr(p.A1692T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15934111:15934111(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200512596
CDS Mutation c.7871G>A
AA Mutation p.Arg2624Gln(p.R2624Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15933963:15933963(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7723C>A
AA Mutation p.Pro2575Thr(p.P2575T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15876486:15876486(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.689G>T
AA Mutation p.Gly230Val(p.G230V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15932890:15932890(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779675366
CDS Mutation c.6650C>T
AA Mutation p.Ala2217Val(p.A2217V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15876221:15876221(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.424C>T
AA Mutation p.Arg142Cys(p.R142C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15933970:15933970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7730A>G
AA Mutation p.Asp2577Gly(p.D2577G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15929280:15929280(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199847404
CDS Mutation c.3040G>A
AA Mutation p.Val1014Met(p.V1014M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15934638:15934638(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140025266
CDS Mutation c.8398G>A
AA Mutation p.Ala2800Thr(p.A2800T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15932121:15932121(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745908478
CDS Mutation c.5881G>A
AA Mutation p.Asp1961Asn(p.D1961N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15935517:15935517(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9277C>A
AA Mutation p.Leu3093Ile(p.L3093I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15920966:15920966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763959899
CDS Mutation c.1732G>A
AA Mutation p.Gly578Ser(p.G578S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15872826:15872826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94G>A
AA Mutation p.Val32Met(p.V32M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15928201:15928201(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1961G>A
AA Mutation p.Gly654Glu(p.G654E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15935248:15935248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9008C>T
AA Mutation p.Ser3003Leu(p.S3003L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15911261:15911261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1203C>A
AA Mutation p.Phe401Leu(p.F401L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15928129:15928129(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1889G>A
AA Mutation p.Arg630His(p.R630H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15929018:15929018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2778A>C
AA Mutation p.Lys926Asn(p.K926N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15933925:15933925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7685T>C
AA Mutation p.Val2562Ala(p.V2562A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15928288:15928288(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2048A>G
AA Mutation p.Tyr683Cys(p.Y683C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15929416:15929416(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3176C>T
AA Mutation p.Thr1059Ile(p.T1059I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15931173:15931173(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4933G>A
AA Mutation p.Val1645Ile(p.V1645I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15931990:15931990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780910569
CDS Mutation c.5750G>A
AA Mutation p.Arg1917His(p.R1917H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15937265:15937265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10129C>T
AA Mutation p.Pro3377Ser(p.P3377S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15930202:15930202(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3962C>T
AA Mutation p.Ala1321Val(p.A1321V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15929625:15929625(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759801779
CDS Mutation c.3385G>A
AA Mutation p.Val1129Ile(p.V1129I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15909439:15909439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1000A>C
AA Mutation p.Ser334Arg(p.S334R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15928533:15928533(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2293A>T
AA Mutation p.Ser765Cys(p.S765C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15930154:15930154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3914A>T
AA Mutation p.Glu1305Val(p.E1305V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15932409:15932409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6169A>G
AA Mutation p.Thr2057Ala(p.T2057A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15932386:15932386(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6146G>A
AA Mutation p.Gly2049Asp(p.G2049D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15934630:15934630(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779271032
CDS Mutation c.8390C>T
AA Mutation p.Pro2797Leu(p.P2797L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000375759
Start 15937645:15937645(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10509G>T
AA Mutation p.Lys3503Asn(p.K3503N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15930890:15930890(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4650G>T
AA Mutation p.Glu1550Asp(p.E1550D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15937344:15937344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549789481
CDS Mutation c.10208G>A
AA Mutation p.Arg3403His(p.R3403H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15930591:15930591(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4351G>A
AA Mutation p.Ala1451Thr(p.A1451T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15928729:15928729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2489C>T
AA Mutation p.Ser830Phe(p.S830F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15935278:15935278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9038T>A
AA Mutation p.Val3013Asp(p.V3013D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15934218:15934218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7978G>A
AA Mutation p.Val2660Ile(p.V2660I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15939354:15939354(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367592589
CDS Mutation c.10922G>A
AA Mutation p.Arg3641His(p.R3641H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000375759
Start 15931275:15931275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779103344
CDS Mutation c.5035G>A
AA Mutation p.Val1679Ile(p.V1679I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15931958:15931958(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765166166
CDS Mutation c.5718C>T
Mutation Classification Silent
Feature Type Transcript
ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15930485:15930485(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs538594632
CDS Mutation c.4245A>G
Mutation Classification Silent
Feature Type Transcript
ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15934433:15934433(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8193A>G
Mutation Classification Silent
Feature Type Transcript
ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15934832:15934832(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772358107
CDS Mutation c.8592G>A
Mutation Classification Silent
Feature Type Transcript
ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15934379:15934379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8139C>A
Mutation Classification Silent
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15935987:15935987(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766572623
CDS Mutation c.9747C>T
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15872876:15872876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.144T>C
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15937180:15937180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10044T>C
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15938759:15938759(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775916706
CDS Mutation c.10746C>T
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15936119:15936119(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9879G>A
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15876613:15876613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746082766
CDS Mutation c.816C>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15936035:15936035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9795T>C
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15928637:15928637(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2397G>T
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15932642:15932642(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6402A>G
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15931961:15931961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5721C>A
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15909381:15909381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.942A>C
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15933731:15933731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7491G>A
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15873083:15873083(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201724026
CDS Mutation c.351T>C
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15931175:15931175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4935A>G
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15931433:15931433(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5193G>A
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15929615:15929615(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778372049
CDS Mutation c.3375G>A
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15931067:15931067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4827A>G
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000375759
Start 15937432:15937432(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10296C>A
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15932985:15932985(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6750delC
AA Mutation p.Ala2251GlnfsTer102(p.A2251Qfs*102)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15929288:15929288(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3053delA
AA Mutation p.Lys1018SerfsTer13(p.K1018Sfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15933719:15933719(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7484delC
AA Mutation p.Pro2495LeufsTer4(p.P2495Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15929388:15929388(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3154delA
AA Mutation p.Ile1052SerfsTer40(p.I1052Sfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15932394:15932394(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6158delA
AA Mutation p.Asn2053ThrfsTer11(p.N2053Tfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15932449:15932449(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6215delA
AA Mutation p.Asn2072ThrfsTer14(p.N2072Tfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15911257:15911258(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1201_1202delTT
AA Mutation p.Phe401LeufsTer6(p.F401Lfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15932433:15932433(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6198delA
AA Mutation p.Lys2066AsnfsTer20(p.K2066Nfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15934160:15934160(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7923delA
AA Mutation p.Lys2641AsnfsTer11(p.K2641Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 74
Mutation Consequence stop_gained
Transcription ID ENST00000375759
Start 15930033:15930033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3793C>T
AA Mutation p.Arg1265Ter(p.R1265*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence stop_gained
Transcription ID ENST00000375759
Start 15928344:15928344(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2104C>T
AA Mutation p.Arg702Ter(p.R702*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence stop_gained
Transcription ID ENST00000375759
Start 15933264:15933264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7024C>T
AA Mutation p.Arg2342Ter(p.R2342*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence stop_gained
Transcription ID ENST00000375759
Start 15928254:15928254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2014C>T
AA Mutation p.Arg672Ter(p.R672*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000375759
Start 15909418:15909419(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.984dupA
AA Mutation p.Asp329ArgfsTer2(p.D329Rfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 79
Mutation Consequence splice_donor_variant
Transcription ID ENST00000375759
Start 15922351:15922351(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1850+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 80
Mutation Consequence inframe_deletion
Transcription ID ENST00000375759
Start 15928359:15928379(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2121_2141delAAGATTTGAGTCTGACCGGGA
AA Mutation p.Glu707_Arg713del(p.E707_R713del)
Mutation Classification In_Frame_Del
Feature Type Transcript