Primary Site >> Stomach Cancer

Gene >> PLEC

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917009:143917009(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13223C>T
AA Mutation p.Ser4408Leu(p.S4408L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921020:143921020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368122904
CDS Mutation c.9212C>T
AA Mutation p.Thr3071Met(p.T3071M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921230:143921230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9002A>G
AA Mutation p.Tyr3001Cys(p.Y3001C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143934424:143934424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200260527
CDS Mutation c.1474C>T
AA Mutation p.Leu492Phe(p.L492F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143927060:143927060(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4273A>C
AA Mutation p.Thr1425Pro(p.T1425P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143932876:143932876(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2065G>A
AA Mutation p.Glu689Lys(p.E689K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917637:143917637(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12595C>A
AA Mutation p.Pro4199Thr(p.P4199T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143927481:143927481(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781861123
CDS Mutation c.4096C>T
AA Mutation p.Arg1366Trp(p.R1366W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917570:143917570(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376783002
CDS Mutation c.12662C>T
AA Mutation p.Ser4221Leu(p.S4221L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920367:143920367(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781854050
CDS Mutation c.9865G>A
AA Mutation p.Val3289Met(p.V3289M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143933203:143933203(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1823A>G
AA Mutation p.Tyr608Cys(p.Y608C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919223:143919223(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11009A>G
AA Mutation p.Asp3670Gly(p.D3670G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918961:143918961(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11271C>G
AA Mutation p.Ile3757Met(p.I3757M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919164:143919164(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11068G>C
AA Mutation p.Glu3690Gln(p.E3690Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143935212:143935212(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1115T>C
AA Mutation p.Leu372Pro(p.L372P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920669:143920669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9563C>T
AA Mutation p.Ser3188Phe(p.S3188F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143925527:143925527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4813C>T
AA Mutation p.Arg1605Cys(p.R1605C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143929518:143929518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373993300
CDS Mutation c.3388C>T
AA Mutation p.Arg1130Trp(p.R1130W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919146:143919146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782559387
CDS Mutation c.11086A>G
AA Mutation p.Thr3696Ala(p.T3696A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921086:143921086(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9146C>T
AA Mutation p.Ala3049Val(p.A3049V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923288:143923288(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781956194
CDS Mutation c.7052C>T
AA Mutation p.Ala2351Val(p.A2351V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921845:143921845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781927659
CDS Mutation c.8387A>G
AA Mutation p.Gln2796Arg(p.Q2796R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922779:143922779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7561C>T
AA Mutation p.Arg2521Cys(p.R2521C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918972:143918972(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781877026
CDS Mutation c.11260C>T
AA Mutation p.Arg3754Cys(p.R3754C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918885:143918885(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202175941
CDS Mutation c.11347C>T
AA Mutation p.Arg3783Cys(p.R3783C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919383:143919383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10849A>G
AA Mutation p.Ser3617Gly(p.S3617G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922856:143922856(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782367691
CDS Mutation c.7484C>T
AA Mutation p.Ala2495Val(p.A2495V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143925416:143925416(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4924G>A
AA Mutation p.Asp1642Asn(p.D1642N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922721:143922721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7619C>T
AA Mutation p.Ala2540Val(p.A2540V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143926866:143926866(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782146862
CDS Mutation c.4373C>T
AA Mutation p.Thr1458Met(p.T1458M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143925786:143925786(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4554G>T
AA Mutation p.Gln1518His(p.Q1518H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916475:143916475(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782720210
CDS Mutation c.13757C>T
AA Mutation p.Ala4586Val(p.A4586V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918180:143918180(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577333649
CDS Mutation c.12052C>T
AA Mutation p.Arg4018Cys(p.R4018C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919967:143919967(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10265T>C
AA Mutation p.Ile3422Thr(p.I3422T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921726:143921726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782264628
CDS Mutation c.8506G>A
AA Mutation p.Ala2836Thr(p.A2836T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923128:143923128(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7212G>T
AA Mutation p.Gln2404His(p.Q2404H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923864:143923864(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782332277
CDS Mutation c.6476G>A
AA Mutation p.Arg2159Gln(p.R2159Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917945:143917945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782457644
CDS Mutation c.12287G>A
AA Mutation p.Arg4096His(p.R4096H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916973:143916973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13259T>C
AA Mutation p.Ile4420Thr(p.I4420T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917177:143917177(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13055A>G
AA Mutation p.Asp4352Gly(p.D4352G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922079:143922079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560763455
CDS Mutation c.8153G>A
AA Mutation p.Arg2718Gln(p.R2718Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922778:143922778(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201594706
CDS Mutation c.7562G>A
AA Mutation p.Arg2521His(p.R2521H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916557:143916557(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782099999
CDS Mutation c.13675G>A
AA Mutation p.Ala4559Thr(p.A4559T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917090:143917090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370769102
CDS Mutation c.13142G>A
AA Mutation p.Arg4381His(p.R4381H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143929187:143929187(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529986115
CDS Mutation c.3587C>A
AA Mutation p.Ala1196Glu(p.A1196E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916923:143916923(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782022985
CDS Mutation c.13309C>T
AA Mutation p.Arg4437Trp(p.R4437W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917040:143917040(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200924154
CDS Mutation c.13192G>A
AA Mutation p.Ala4398Thr(p.A4398T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920985:143920985(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546852080
CDS Mutation c.9247C>T
AA Mutation p.Arg3083Cys(p.R3083C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921191:143921191(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201565643
CDS Mutation c.9041C>T
AA Mutation p.Thr3014Met(p.T3014M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919782:143919782(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782748769
CDS Mutation c.10450G>A
AA Mutation p.Val3484Met(p.V3484M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924312:143924312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367715409
CDS Mutation c.6028G>A
AA Mutation p.Glu2010Lys(p.E2010K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143918575:143918575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781826150
CDS Mutation c.11657G>A
AA Mutation p.Arg3886Gln(p.R3886Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924075:143924075(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782177660
CDS Mutation c.6265C>T
AA Mutation p.Arg2089Cys(p.R2089C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923912:143923912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376537341
CDS Mutation c.6428C>T
AA Mutation p.Ala2143Val(p.A2143V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000322810
Start 143926785:143926785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4454A>T
AA Mutation p.Glu1485Val(p.E1485V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143922085:143922085(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782531536
CDS Mutation c.8147A>G
AA Mutation p.Gln2716Arg(p.Q2716R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924171:143924171(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781860739
CDS Mutation c.6169C>T
AA Mutation p.Arg2057Trp(p.R2057W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920007:143920007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375101631
CDS Mutation c.10225C>T
AA Mutation p.Arg3409Cys(p.R3409C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917321:143917321(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782411778
CDS Mutation c.12911C>T
AA Mutation p.Thr4304Met(p.T4304M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921998:143921998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370351676
CDS Mutation c.8234C>T
AA Mutation p.Ala2745Val(p.A2745V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919523:143919523(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10709T>C
AA Mutation p.Val3570Ala(p.V3570A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919503:143919503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10729T>C
AA Mutation p.Tyr3577His(p.Y3577H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923261:143923261(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565225660
CDS Mutation c.7079G>A
AA Mutation p.Arg2360His(p.R2360H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923963:143923963(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782084501
CDS Mutation c.6377G>A
AA Mutation p.Arg2126His(p.R2126H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924134:143924134(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201624086
CDS Mutation c.6206C>T
AA Mutation p.Ala2069Val(p.A2069V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916781:143916781(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13451A>G
AA Mutation p.Asp4484Gly(p.D4484G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916815:143916815(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201163149
CDS Mutation c.13417G>A
AA Mutation p.Val4473Ile(p.V4473I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143923405:143923405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6935A>G
AA Mutation p.Glu2312Gly(p.E2312G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919376:143919376(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548876454
CDS Mutation c.10856G>A
AA Mutation p.Arg3619His(p.R3619H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916682:143916682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13550A>G
AA Mutation p.Tyr4517Cys(p.Y4517C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919643:143919643(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370079447
CDS Mutation c.10589C>T
AA Mutation p.Ala3530Val(p.A3530V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921300:143921300(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539060494
CDS Mutation c.8932C>T
AA Mutation p.Arg2978Cys(p.R2978C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143921366:143921366(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782271365
CDS Mutation c.8866G>A
AA Mutation p.Val2956Met(p.V2956M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924081:143924081(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566539439
CDS Mutation c.6259C>T
AA Mutation p.Arg2087Cys(p.R2087C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143917864:143917864(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369056956
CDS Mutation c.12368C>T
AA Mutation p.Thr4123Met(p.T4123M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919374:143919374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782236056
CDS Mutation c.10858G>A
AA Mutation p.Val3620Met(p.V3620M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919953:143919953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10279A>G
AA Mutation p.Thr3427Ala(p.T3427A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143931644:143931644(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782679986
CDS Mutation c.2605C>T
AA Mutation p.Arg869Trp(p.R869W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143919613:143919613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369621159
CDS Mutation c.10619G>A
AA Mutation p.Arg3540Gln(p.R3540Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143916818:143916818(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13414G>A
AA Mutation p.Ala4472Thr(p.A4472T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143934383:143934383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1515G>T
AA Mutation p.Lys505Asn(p.K505N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143924208:143924208(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6132G>T
AA Mutation p.Glu2044Asp(p.E2044D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143920130:143920130(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781821437
CDS Mutation c.10102C>T
AA Mutation p.Arg3368Cys(p.R3368C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000322810
Start 143927639:143927639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782533009
CDS Mutation c.3938G>A
AA Mutation p.Arg1313His(p.R1313H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 85
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916345:143916345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13887C>G
Mutation Classification Silent
Feature Type Transcript
ID 86
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143924313:143924313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371589575
CDS Mutation c.6027C>T
Mutation Classification Silent
Feature Type Transcript
ID 87
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143923485:143923485(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6855G>A
Mutation Classification Silent
Feature Type Transcript
ID 88
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143924319:143924319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782258533
CDS Mutation c.6021G>A
Mutation Classification Silent
Feature Type Transcript
ID 89
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143917377:143917377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12855G>T
Mutation Classification Silent
Feature Type Transcript
ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143929788:143929788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3192C>T
Mutation Classification Silent
Feature Type Transcript
ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916843:143916843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13389C>A
Mutation Classification Silent
Feature Type Transcript
ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918109:143918109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782243173
CDS Mutation c.12123C>T
Mutation Classification Silent
Feature Type Transcript
ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916663:143916663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13569C>G
Mutation Classification Silent
Feature Type Transcript
ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919231:143919231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373564804
CDS Mutation c.11001C>T
Mutation Classification Silent
Feature Type Transcript
ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143929257:143929257(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3517C>T
Mutation Classification Silent
Feature Type Transcript
ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143920635:143920635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9597C>A
Mutation Classification Silent
Feature Type Transcript
ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919744:143919744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781808958
CDS Mutation c.10488C>T
Mutation Classification Silent
Feature Type Transcript
ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143927941:143927941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3723G>A
Mutation Classification Silent
Feature Type Transcript
ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143930281:143930281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2886T>C
Mutation Classification Silent
Feature Type Transcript
ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143935301:143935301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199868457
CDS Mutation c.1026C>T
Mutation Classification Silent
Feature Type Transcript
ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916507:143916507(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13725T>C
Mutation Classification Silent
Feature Type Transcript
ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143924274:143924274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782216683
CDS Mutation c.6066G>A
Mutation Classification Silent
Feature Type Transcript
ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916540:143916540(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782135892
CDS Mutation c.13692C>T
Mutation Classification Silent
Feature Type Transcript
ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918547:143918547(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530897932
CDS Mutation c.11685C>T
Mutation Classification Silent
Feature Type Transcript
ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143923086:143923086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782156855
CDS Mutation c.7254G>A
Mutation Classification Silent
Feature Type Transcript
ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143923227:143923227(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782604351
CDS Mutation c.7113C>T
Mutation Classification Silent
Feature Type Transcript
ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918184:143918184(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781888669
CDS Mutation c.12048C>T
Mutation Classification Silent
Feature Type Transcript
ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143918987:143918987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11245C>A
Mutation Classification Silent
Feature Type Transcript
ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143933250:143933250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782361163
CDS Mutation c.1776C>T
Mutation Classification Silent
Feature Type Transcript
ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921739:143921739(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782116380
CDS Mutation c.8493C>T
Mutation Classification Silent
Feature Type Transcript
ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921405:143921405(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782364084
CDS Mutation c.8827C>T
Mutation Classification Silent
Feature Type Transcript
ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143922960:143922960(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531846605
CDS Mutation c.7380G>A
Mutation Classification Silent
Feature Type Transcript
ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919618:143919618(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201096903
CDS Mutation c.10614C>T
Mutation Classification Silent
Feature Type Transcript
ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143917914:143917914(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202099348
CDS Mutation c.12318G>A
Mutation Classification Silent
Feature Type Transcript
ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916579:143916579(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200589588
CDS Mutation c.13653C>T
Mutation Classification Silent
Feature Type Transcript
ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921031:143921031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375108349
CDS Mutation c.9201G>A
Mutation Classification Silent
Feature Type Transcript
ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916621:143916621(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782219243
CDS Mutation c.13611C>T
Mutation Classification Silent
Feature Type Transcript
ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143923908:143923908(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200338935
CDS Mutation c.6432G>A
Mutation Classification Silent
Feature Type Transcript
ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143932165:143932165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2458C>T
Mutation Classification Silent
Feature Type Transcript
ID 120
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143921079:143921079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201211875
CDS Mutation c.9153C>T
Mutation Classification Silent
Feature Type Transcript
ID 121
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916887:143916887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13345C>T
Mutation Classification Silent
Feature Type Transcript
ID 122
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143927578:143927578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377059744
CDS Mutation c.3999C>T
Mutation Classification Silent
Feature Type Transcript
ID 123
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919270:143919270(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116901140
CDS Mutation c.10962G>A
Mutation Classification Silent
Feature Type Transcript
ID 124
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143916606:143916606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782693539
CDS Mutation c.13626C>T
Mutation Classification Silent
Feature Type Transcript
ID 125
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143927965:143927965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370987177
CDS Mutation c.3699C>T
Mutation Classification Silent
Feature Type Transcript
ID 126
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919774:143919774(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202133975
CDS Mutation c.10458G>A
Mutation Classification Silent
Feature Type Transcript
ID 127
Mutation Consequence synonymous_variant
Transcription ID ENST00000322810
Start 143919078:143919078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375573910
CDS Mutation c.11154C>T
Mutation Classification Silent
Feature Type Transcript
ID 128
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143917484:143917484(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12748delC
AA Mutation p.Gln4250ArgfsTer9(p.Q4250Rfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 129
Mutation Consequence frameshift_variant
Transcription ID ENST00000322810
Start 143921184:143921184(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.9048delG
AA Mutation p.Cys3017AlafsTer43(p.C3017Afs*43)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 130
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143925254:143925254(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782185897
CDS Mutation c.5086C>T
AA Mutation p.Arg1696Ter(p.R1696*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 131
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143923850:143923850(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368550010
CDS Mutation c.6490C>T
AA Mutation p.Arg2164Ter(p.R2164*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 132
Mutation Consequence stop_gained
Transcription ID ENST00000322810
Start 143926813:143926813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4426G>T
AA Mutation p.Glu1476Ter(p.E1476*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 133
Mutation Consequence splice_donor_variant
Transcription ID ENST00000322810
Start 143937163:143937163(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.753+2T>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 134
Mutation Consequence inframe_deletion
Transcription ID ENST00000322810
Start 143922029:143922079(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8153_8203delGGCAGCAGGAGGAGCTGCTGGCTGAGGAGAACCAGAGGCTGCGTGAGCAGC
AA Mutation p.Arg2718_Gln2734del(p.R2718_Q2734del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 135
Mutation Consequence inframe_deletion
Transcription ID ENST00000322810
Start 143923382:143923393(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6947_6958delGGCAGAAGGCGC
AA Mutation p.Arg2316_Ala2319del(p.R2316_A2319del)
Mutation Classification In_Frame_Del
Feature Type Transcript