IDH1 isocitrate dehydrogenase (NADP(+)) 1

Annotation transcript: NM_005896.4

511 unique variant annotations were identified in 1000 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-209101311-C-A c.*492G>T - 3-UTRSNV 10/10 - 1
2-209101832-T-C c.1216A>G p.K406E Missense 10/10 - 1
2-209101844-C-A c.1204G>T p.G402* Nonsense 10/10 - 1
2-209101846-A-G c.1202T>C p.L401P Missense 10/10 - 1
2-209101857-G-C c.1191C>G p.F397L Missense 10/10 - 1
2-209101857-G-T c.1191C>A p.F397L Missense 10/10 - 1
2-209101859-A-G c.1189T>C p.F397L Missense 10/10 - 1
2-209101873-A-T c.1175T>A p.L392* Nonsense 10/10 - 1
2-209101876-T-A c.1172A>T p.Y391F Missense 10/10 - 1
2-209101882-G-A c.1166C>T p.S389F Missense 10/10 - 1
2-209101885-C-T c.1163G>A p.R388H Missense 10/10 - 2
2-209101886-G-A c.1162C>T p.R388C Missense 10/10 - 1
2-209101889-G-T c.1159C>A p.Q387K Missense 10/10 - 1
2-209103798-G-A c.1151C>T p.P384L Missense 9/10 - 1
2-209103804-C-T c.1145G>A p.G382D Missense 9/10 - 2
2-209103805-C-T c.1144G>A p.G382S Missense 9/10 - 1
2-209103811-T-A c.1138A>T p.I380F Missense 9/10 - 2
2-209103812-G-A c.1137C>T p.C379= Synonymous 9/10 - 1
2-209103814-A-C c.1135T>G p.C379G Missense 9/10 - 1
2-209103820-C-T c.1129G>A p.A377T Missense 9/10 - 1
2-209103826-C-A c.1123G>T p.D375Y Missense 9/10 - 3
2-209103825-TC-T c.1123del p.D375Tfs*18 Frameshift 9/10 - 1
2-209103829-T-G c.1120A>C p.K374Q Missense 9/10 - 1
2-209103840-C-T c.1109G>A p.G370D Missense 9/10 - 2
2-209103841-C-A c.1108G>T p.G370C Missense 9/10 - 1
2-209103856-C-T c.1093G>A p.E365K Missense 9/10 - 2
2-209103868-C-T c.1081G>A p.E361K Missense 9/10 - 2
2-209103871-C-T c.1078G>A p.E360K Missense 9/10 - 2
2-209103872-C-A c.1077G>T p.L359F Missense 9/10 - 2
2-209103872-C-G c.1077G>C p.L359F Missense 9/10 - 2
2-209103886-A-C c.1063T>G p.F355V Missense 9/10 - 1
2-209103891-GGC-G c.1057_1058del p.A353Lfs*12 Frameshift 9/10 - 1
2-209103891-G-T c.1058C>A p.A353D Missense 9/10 - 1
2-209103894-A-G c.1055T>C p.L352P Missense 9/10 - 1
2-209103903-T-C c.1046A>G p.N349S Missense 9/10 - 1
2-209103910-C-G c.1039G>C p.D347H Missense 9/10 - 1
2-209103910-C-T c.1039G>A p.D347N Missense 9/10 - 1
2-209103925-G-T c.1024C>A p.H342N Missense 9/10 - 1
2-209103927-G-A c.1022C>T p.A341V Missense 9/10 - 1
2-209103927-G-T c.1022C>A p.A341D Missense 9/10 - 1
2-209103933-C-T c.1016G>A p.G339E Missense 9/10 - 1
2-209103934-C-A c.1015G>T p.G339W Missense 9/10 - 1
2-209103934-C-T c.1015G>A p.G339R Missense 9/10 - 1
2-209103936-C-G c.1013G>C p.R338T Missense 9/10 - 3
2-209103936-C-T c.1013G>A p.R338K Missense 9/10 - 1
2-209103937-TG-T c.1011del p.R338Efs*3 Frameshift 9/10 - 2
2-209103945-G-A c.1004C>T p.A335V Missense 9/10 - 1
2-209103946-C-A c.1003G>T p.A335S Missense 9/10 - 1
2-209103946-CA-C c.1002del p.F334Lfs*7 Frameshift 9/10 - 1
2-209103952-T-C c.997A>G p.I333V Missense 9/10 - 1
2-209103953-G-A c.996C>T p.S332= Synonymous 9/10 - 1
2-209104559-T-G c.991+28A>C - IntronicSNV - 8/9 1
2-209104587-C-T c.991G>A p.A331T Missense 8/10 - 1
2-209104589-A-T c.989T>A p.I330N Missense 8/10 - 1
2-209104599-T-C c.979A>G p.T327A Missense 8/10 - 2
2-209104601-G-C c.977C>G p.S326C Missense 8/10 - 1
2-209104602-A-G c.976T>C p.S326P Missense 8/10 - 1
2-209104604-G-A c.974C>T p.T325M Missense 8/10 - 2
2-209104613-C-T c.965G>A p.G322E Missense 8/10 - 1
2-209104617-T-G c.961A>C p.K321Q Missense 8/10 - 1
2-209104628-CG-TC c.949_950delinsGA p.R317D Missense 8/10 - 1
2-209104629-G-A c.949C>T p.R317C Missense 8/10 - 1
2-209104633-G-C c.945C>G p.H315Q Missense 8/10 - 1
2-209104633-G-T c.945C>A p.H315Q Missense 8/10 - 1
2-209104634-TG-GC c.943_944delinsGC p.H315A Missense 8/10 - 2
2-209104636-A-C c.942T>G p.R314= Synonymous 8/10 - 1
2-209104636-A-G c.942T>C p.R314= Synonymous 8/10 - 1
2-209104636-A-T c.942T>A p.R314= Synonymous 8/10 - 1
2-209104637-CG-TC c.940_941delinsGA p.R314D Missense 8/10 - 1
2-209104637-C-T c.941G>A p.R314H Missense 8/10 - 3
2-209104638-G-A c.940C>T p.R314C Missense 8/10 - 5
2-209104638-G-T c.940C>A p.R314S Missense 8/10 - 1
2-209104646-G-A c.932C>T p.T311I Missense 8/10 - 1
2-209104647-T-C c.931A>G p.T311A Missense 8/10 - 1
2-209104649-C-A c.929G>T p.G310V Missense 8/10 - 2
2-209104649-C-T c.929G>A p.G310E Missense 8/10 - 1
2-209104652-TG-GC c.925_926delinsGC p.H309A Missense 8/10 - 1
2-209104653-G-A c.925C>T p.H309Y Missense 8/10 - 1
2-209104658-G-A c.920C>T p.A307V Missense 8/10 - 1
2-209104659-C-A c.919G>T p.A307S Missense 8/10 - 1
2-209104660-C-A c.918G>T p.E306D Missense 8/10 - 1
2-209104660-C-G c.918G>C p.E306D Missense 8/10 - 1
2-209104661-T-G c.917A>C p.E306A Missense 8/10 - 2
2-209104678-GC-CT c.899_900delinsAG p.G300E Missense 8/10 - 1
2-209104679-C-A c.899G>T p.G300V Missense 8/10 - 1
2-209104679-C-T c.899G>A p.G300D Missense 8/10 - 1
2-209104680-C-T c.898G>A p.G300S Missense 8/10 - 1
2-209104681-A-C c.897T>G p.D299E Missense 8/10 - 1
2-209104681-A-T c.897T>A p.D299E Missense 8/10 - 1
2-209104687-GA-G c.891del p.P298Qfs*6 Frameshift 8/10 - 1
2-209104688-C-G c.890G>C p.C297S Missense 8/10 - 1
2-209104689-A-T c.889T>A p.C297S Missense 8/10 - 1
2-209104698-C-A c.880G>T p.V294L Missense 8/10 - 1
2-209104698-C-G c.880G>C p.V294L Missense 8/10 - 1
2-209104698-C-T c.880G>A p.V294M Missense 8/10 - 2
2-209104705-C-T c.873G>A p.M291I Missense 8/10 - 1
2-209104708-C-A c.870G>T p.M290I Missense 8/10 - 1
2-209104708-C-G c.870G>C p.M290I Missense 8/10 - 1
2-209104708-C-T c.870G>A p.M290I Missense 8/10 - 2
2-209104710-T-A c.868A>T p.M290L Missense 8/10 - 1
2-209104710-T-G c.868A>C p.M290L Missense 8/10 - 1
2-209104713-C-T c.865G>A p.G289S Missense 8/10 - 2
2-209104713-CGA-C c.863_864del p.L288Rfs*59 Frameshift 8/10 - 1
2-209104719-A-T c.859T>A p.S287T Missense 8/10 - 1
2-209104724-T-C c.854A>G p.Y285C Missense 8/10 - 1
2-209104727-C-A c.851G>T p.G284V Missense 8/10 - 1
2-209106707-C-A c.850+11G>T - IntronicSNV - 7/9 1
2-209106721-G-A c.847C>T p.Q283* Nonsense 7/10 - 1
2-209106723-G-A c.845C>T p.A282V Missense 7/10 - 1
2-209106729-G-A c.839C>T p.S280F Missense 7/10 - 9
2-209106732-T-G c.836A>C p.D279A Missense 7/10 - 1
2-209106733-C-T c.835G>A p.D279N Missense 7/10 - 1
2-209106735-G-A c.833C>T p.S278L Missense 7/10 - 2
2-209106736-A-G c.832T>C p.S278P Missense 7/10 - 2
2-209106742-C-A c.826G>T p.V276L Missense 7/10 - 1
2-209106748-C-G c.820G>C p.G274R Missense 7/10 - 1
2-209106749-A-C c.819T>G p.D273E Missense 7/10 - 1
2-209106749-A-T c.819T>A p.D273E Missense 7/10 - 1
2-209106750-TC-AG c.817_818delinsCT p.D273L Missense 7/10 - 1
2-209106750-TC-CT c.817_818delinsAG p.D273S Missense 7/10 - 1
2-209106751-C-T c.817G>A p.D273N Missense 7/10 - 1
2-209106753-T-C c.815A>G p.Y272C Missense 7/10 - 1
2-209106762-CA-GC c.805_806delinsGC p.C269A Missense 7/10 - 1
2-209106762-C-G c.806G>C p.C269S Missense 7/10 - 1
2-209106763-A-T c.805T>A p.C269S Missense 7/10 - 1
2-209106775-A-G c.793T>C p.F265L Missense 7/10 - 1
2-209106777-C-T c.791G>A p.G264D Missense 7/10 - 1
2-209106780-C-A c.788G>T p.G263V Missense 7/10 - 2
2-209106784-C-G c.784G>C p.E262Q Missense 7/10 - 1
2-209106784-C-T c.784G>A p.E262K Missense 7/10 - 1
2-209106786-G-A c.782C>T p.S261L Missense 7/10 - 4
2-209106788-TTT-GTC c.778_780delinsGAC p.K260D Missense 7/10 - 1
2-209106791-C-T c.777G>A p.M259I Missense 7/10 - 1
2-209106792-A-C c.776T>G p.M259R Missense 7/10 - 1
2-209106792-AT-GC c.775_776delinsGC p.M259A Missense 7/10 - 1
2-209106792-AT-TC c.775_776delinsGA p.M259E Missense 7/10 - 1
2-209106796-C-T c.772G>A p.A258T Missense 7/10 - 1
2-209106804-A-T c.764T>A p.V255E Missense 7/10 - 1
2-209106807-A-T c.761T>A p.M254K Missense 7/10 - 1
2-209106813-T-C c.755A>G p.D252G Missense 7/10 - 2
2-209106813-TC-AA c.754_755delinsTT p.D252F Missense 7/10 - 2
2-209106813-T-G c.755A>C p.D252A Missense 7/10 - 1
2-209106814-C-T c.754G>A p.D252N Missense 7/10 - 3
2-209106814-TCGA-T c.752_754del p.I251_D252delinsN MultiAAMissense 7/10 - 1
2-209106819-A-C c.749T>G p.L250R Missense 7/10 - 1
2-209106821-CCT-GTC c.745_747delinsGAC p.R249D Missense 7/10 - 1
2-209106822-C-G c.746G>C p.R249T Missense 7/10 - 1
2-209106823-T-C c.745A>G p.R249G Missense 7/10 - 1
2-209106826-G-A c.742C>T p.H248Y Missense 7/10 - 1
2-209106826-G-C c.742C>G p.H248D Missense 7/10 - 1
2-209106839-C-A c.729G>T p.K243N Missense 7/10 - 1
2-209106839-C-G c.729G>C p.K243N Missense 7/10 - 1
2-209106841-T-C c.727A>G p.K243E Missense 7/10 - 1
2-209106852-A-C c.716T>G p.F239C Missense 7/10 - 1
2-209106859-A-G c.709T>C p.S237P Missense 7/10 - 1
2-209106864-T-C c.704A>G p.Y235C Missense 7/10 - 5
2-209108150-C-T c.698+1G>A - IntronicSNV - 6/9 1
2-209108154-T-G c.695A>C p.D232A Missense 6/10 - 1
2-209108158-A-G c.691T>C p.Y231H Missense 6/10 - 2
2-209108159-TA-GT c.689_690delinsAC p.I230N Missense 6/10 - 1
2-209108164-C-T c.685G>A p.E229K Missense 6/10 - 1
2-209108165-C-A c.684G>T p.Q228H Missense 6/10 - 1
2-209108166-T-C c.683A>G p.Q228R Missense 6/10 - 1
2-209108167-G-A c.682C>T p.Q228* Nonsense 6/10 - 1
2-209108170-A-C c.679T>G p.F227V Missense 6/10 - 1
2-209108176-C-G c.673G>C p.D225H Missense 6/10 - 1
2-209108176-C-T c.673G>A p.D225N Missense 6/10 - 1
2-209108178-T-C c.671A>G p.K224R Missense 6/10 - 2
2-209108179-T-G c.670A>C p.K224Q Missense 6/10 - 2
2-209108185-G-A c.664C>T p.R222C Missense 6/10 - 3
2-209108185-G-T c.664C>A p.R222S Missense 6/10 - 1
2-209108187-C-A c.662G>T p.G221V Missense 6/10 - 1
2-209108190-T-C c.659A>G p.D220G Missense 6/10 - 2
2-209108193-T-A c.656A>T p.Y219F Missense 6/10 - 1
2-209108198-C-A c.651G>T p.K217N Missense 6/10 - 1
2-209108198-C-G c.651G>C p.K217N Missense 6/10 - 1
2-209108199-T-A c.650A>T p.K217M Missense 6/10 - 1
2-209108200-T-G c.649A>C p.K217Q Missense 6/10 - 1
2-209108201-C-A c.648G>T p.L216= Synonymous 6/10 - 1
2-209108201-C-G c.648G>C p.L216= Synonymous 6/10 - 1
2-209108201-C-T c.648G>A p.L216= Synonymous 6/10 - 1
2-209108203-G-A c.646C>T p.L216= Synonymous 6/10 - 1
2-209108203-G-C c.646C>G p.L216V Missense 6/10 - 1
2-209108206-T-A c.643A>T p.I215F Missense 6/10 - 1
2-209108211-T-G c.638A>C p.N213T Missense 6/10 - 2
2-209108210-GT-G c.638del p.N213Tfs*4 Frameshift 6/10 - 2
2-209108215-T-A c.634A>T p.K212* Nonsense 6/10 - 1
2-209108220-C-G c.629G>C p.S210T Missense 6/10 - 1
2-209108220-C-T c.629G>A p.S210N Missense 6/10 - 3
2-209108221-T-C c.628A>G p.S210G Missense 6/10 - 1
2-209108225-A-C c.624T>G p.Y208* Nonsense 6/10 - 2
2-209108225-A-T c.624T>A p.Y208* Nonsense 6/10 - 1
2-209108226-T-C c.623A>G p.Y208C Missense 6/10 - 11
2-209108227-A-G c.622T>C p.Y208H Missense 6/10 - 1
2-209108235-C-A c.614G>T p.W205L Missense 6/10 - 1
2-209108238-C-A c.611G>T p.G204V Missense 6/10 - 1
2-209108238-C-T c.611G>A p.G204D Missense 6/10 - 1
2-209108239-C-T c.610G>A p.G204S Missense 6/10 - 1
2-209108240-C-A c.609G>T p.K203N Missense 6/10 - 1
2-209108240-C-G c.609G>C p.K203N Missense 6/10 - 1
2-209108241-CTTAG-C c.605_608del p.S202Wfs*7 Frameshift 6/10 - 1
2-209108248-G-A c.601C>T p.L201= Synonymous 6/10 - 1
2-209108251-C-A c.598G>T p.A200S Missense 6/10 - 1
2-209108252-CCAT-C c.595_597del p.M199del InFrameDeletion 6/10 - 1
2-209108253-A-C c.596T>G p.M199R Missense 6/10 - 1
2-209108254-T-A c.595A>T p.M199L Missense 6/10 - 1
2-209108256-T-G c.593A>C p.Q198P Missense 6/10 - 2
2-209108257-G-A c.592C>T p.Q198* Nonsense 6/10 - 1
2-209108265-C-T c.584G>A p.S195N Missense 6/10 - 1
2-209108267-G-T c.582C>A p.H194Q Missense 6/10 - 1
2-209108271-G-A c.578C>T p.A193V Missense 6/10 - 1
2-209108272-C-A c.577G>T p.A193S Missense 6/10 - 2
2-209108273-A-C c.576T>G p.F192L Missense 6/10 - 1
2-209108273-A-T c.576T>A p.F192L Missense 6/10 - 1
2-209108275-A-G c.574T>C p.F192L Missense 6/10 - 1
2-209108281-C-T c.568G>A p.E190K Missense 6/10 - 4
2-209108284-T-A c.565A>T p.I189F Missense 6/10 - 1
2-209108284-T-C c.565A>G p.I189V Missense 6/10 - 4
2-209108293-C-G c.556G>C p.D186H Missense 6/10 - 1
2-209108295-T-G c.554A>C p.Q185P Missense 6/10 - 1
2-209108301-T-C c.548A>G p.Y183C Missense 6/10 - 13
2-209108303-C-T c.546G>A p.M182I Missense 6/10 - 1
2-209108305-T-A c.544A>T p.M182L Missense 6/10 - 1
2-209108305-T-C c.544A>G p.M182V Missense 6/10 - 2
2-209108305-T-G c.544A>C p.M182L Missense 6/10 - 1
2-209108308-C-G c.541G>C p.G181R Missense 6/10 - 1
2-209108308-C-T c.541G>A p.G181R Missense 6/10 - 1
2-209108311-T-C c.538A>G p.M180V Missense 6/10 - 1
2-209108313-G-T c.536C>A p.A179D Missense 6/10 - 1
2-209108316-AC-CA c.532_533delinsTG p.V178C Missense 6/10 - 1
2-209108316-A-G c.533T>C p.V178A Missense 6/10 - 1
2-209108317-C-T c.532G>A p.V178I Missense 6/10 - 31
2-209108319-C-T c.530G>A p.G177D Missense 6/10 - 1
2-209108322-CC-TT c.526_527delinsAA p.G176N Missense 6/10 - 1
2-209108325-C-A c.524G>T p.G175V Missense 6/10 - 1
2-209108327-T-A c.522A>T p.E174D Missense 6/10 - 1
2-209108328-T-C c.521A>G p.E174G Missense 6/10 - 1
2-209110036-T-C c.520+7A>G - IntronicSNV - 5/9 1
2-209110051-T-G c.512A>C p.N171T Missense 5/10 - 2
2-209110052-T-C c.511A>G p.N171D Missense 5/10 - 1
2-209110052-T-TA c.510dup p.N171* Nonsense 5/10 - 1
2-209110054-T-C c.509A>G p.H170R Missense 5/10 - 1
2-209110057-A-G c.506T>C p.V169A Missense 5/10 - 1
2-209110072-T-C c.491A>G p.K164R Missense 5/10 - 1
2-209110073-T-C c.490A>G p.K164E Missense 5/10 - 1
2-209110079-T-C c.484A>G p.T162A Missense 5/10 - 1
2-209110080-T-C c.483A>G p.G161= Synonymous 5/10 - 1
2-209110082-C-G c.481G>C p.G161R Missense 5/10 - 1
2-209110082-C-T c.481G>A p.G161R Missense 5/10 - 2
2-209110083-G-C c.480C>G p.D160E Missense 5/10 - 1
2-209110083-G-T c.480C>A p.D160E Missense 5/10 - 1
2-209110091-G-A c.472C>T p.P158S Missense 5/10 - 1
2-209110094-T-C c.469A>G p.T157A Missense 5/10 - 1
2-209110106-C-T c.457G>A p.E153K Missense 5/10 - 1
2-209110109-C-A c.454G>T p.V152L Missense 5/10 - 1
2-209110109-C-G c.454G>C p.V152L Missense 5/10 - 1
2-209110110-T-A c.453A>T p.K151N Missense 5/10 - 1
2-209110110-T-G c.453A>C p.K151N Missense 5/10 - 1
2-209110111-TT-GC c.451_452delinsGC p.K151A Missense 5/10 - 3
2-209110112-T-TA c.450_451insT p.K151* Nonsense 5/10 - 1
2-209110114-C-A c.449G>T p.G150V Missense 5/10 - 1
2-209110118-G-T c.445C>A p.P149T Missense 5/10 - 1
2-209110121-C-A c.442G>T p.G148W Missense 5/10 - 1
2-209110124-G-T c.439C>A p.P147T Missense 5/10 - 1
2-209110125-AAC-CAT c.436_438delinsATG p.V146M Missense 5/10 - 1
2-209110127-C-T c.436G>A p.V146I Missense 5/10 - 2
2-209110136-C-T c.427G>A p.D143N Missense 5/10 - 1
2-209110142-C-T c.421G>A p.A141T Missense 5/10 - 1
2-209110143-TCT-CCA c.418_420delinsTGG p.R140W Missense 5/10 - 2
2-209110144-C-T c.419G>A p.R140K Missense 5/10 - 6
2-209110144-CT-TG c.418_419delinsCA p.R140Q Missense 5/10 - 35
2-209110145-T-A c.418A>T p.R140* Nonsense 5/10 - 1
2-209110145-T-C c.418A>G p.R140G Missense 5/10 - 1
2-209110147-T-A c.416A>T p.Y139F Missense 5/10 - 1
2-209110147-TA-GC c.415_416delinsGC p.Y139A Missense 5/10 - 1
2-209110148-A-C c.415T>G p.Y139D Missense 5/10 - 5
2-209110168-G-A c.415-20C>T - IntronicSNV - 4/9 1
2-209110168-G-C c.415-20C>G - IntronicSNV - 4/9 1
2-209110784-C-T c.415-636G>A - IntronicSNV - 4/9 1
2-209112551-G-A c.414+542C>T - IntronicSNV - 4/9 2
2-209113084-A-T c.414+9T>A - IntronicSNV - 4/9 1
2-209113092-C-T c.414+1G>A - IntronicSNV - 4/9 1
2-209113102-A-C c.405T>G p.Y135* Nonsense 4/10 - 1
2-209113103-T-A c.404A>T p.Y135F Missense 4/10 - 1
2-209113103-TA-GC c.403_404delinsGC p.Y135A Missense 4/10 - 1
2-209113104-A-G c.403T>C p.Y135H Missense 4/10 - 1
2-209113106-G-T c.401C>A p.A134D Missense 4/10 - 10
2-209113108-A-C c.399T>G p.H133Q Missense 4/10 - 7
2-209113108-A-T c.399T>A p.H133Q Missense 4/10 - 8
2-209113109-TG-GC c.397_398delinsGC p.H133A Missense 4/10 - 1
2-209113110-G-A c.397C>T p.H133Y Missense 4/10 - 1
2-209113111-A-C c.396T>G p.R132= Synonymous 4/10 - 1
2-209113111-ACG-CAT c.394_396delinsATG p.R132M Missense 4/10 - 2
2-209113111-ACG-CCA c.394_396delinsTGG p.R132W Missense 4/10 - 4
2-209113111-ACG-CTC c.394_396delinsGAG p.R132E Missense 4/10 - 3
2-209113111-ACG-CTT c.394_396delinsAAG p.R132K Missense 4/10 - 7
2-209113111-ACG-TCA c.394_396delinsTGA p.R132* Nonsense 4/10 - 26
2-209113111-AC-TT c.395_396delinsAA p.R132Q Missense 4/10 - 25
2-209113111-A-G c.396T>C p.R132= Synonymous 4/10 - 1
2-209113111-A-T c.396T>A p.R132= Synonymous 4/10 - 1
2-209113112-C-A c.395G>T p.R132L Missense 4/10 - 211
2-209113112-C-G c.395G>C p.R132P Missense 4/10 - 16
2-209113112-CG-AA c.394_395delinsTT p.R132F Missense 4/10 - 8
2-209113112-CG-AC c.394_395delinsGT p.R132V Missense 4/10 - 25
2-209113112-CG-AT c.394_395delinsAT p.R132I Missense 4/10 - 4
2-209113112-CG-GC c.394_395delinsGC p.R132A Missense 4/10 - 5
2-209113112-CG-GT c.394_395delinsAC p.R132T Missense 4/10 - 1
2-209113112-CG-TA c.394_395delinsTA p.R132Y Missense 4/10 - 1
2-209113112-CG-TC c.394_395delinsGA p.R132D Missense 4/10 - 2
2-209113112-CG-TT c.394_395delinsAA p.R132N Missense 4/10 - 3
2-209113112-C-T c.395G>A p.R132H Missense 4/10 - 2455
2-209113113-G-A c.394C>T p.R132C Missense 4/10 - 702
2-209113113-G-C c.394C>G p.R132G Missense 4/10 - 287
2-209113113-G-T c.394C>A p.R132S Missense 4/10 - 272
2-209113114-A-T c.393T>A p.G131= Synonymous 4/10 - 1
2-209113115-C-A c.392G>T p.G131V Missense 4/10 - 1
2-209113115-C-G c.392G>C p.G131A Missense 4/10 - 1
2-209113115-C-T c.392G>A p.G131D Missense 4/10 - 1
2-209113116-C-T c.391G>A p.G131S Missense 4/10 - 1
2-209113117-T-C c.390A>G p.I130M Missense 4/10 - 8
2-209113119-T-C c.388A>G p.I130V Missense 4/10 - 5
2-209113125-T-C c.382A>G p.I128V Missense 4/10 - 1
2-209113124-ATAGG-A c.379_382del p.P127Sfs*3 Frameshift 4/10 - 1
2-209113127-G-A c.380C>T p.P127L Missense 4/10 - 1
2-209113128-G-A c.379C>T p.P127S Missense 4/10 - 2
2-209113129-T-C c.378A>G p.K126= Synonymous 4/10 - 1
2-209113130-T-C c.377A>G p.K126R Missense 4/10 - 2
2-209113133-A-C c.374T>G p.V125G Missense 4/10 - 1
2-209113135-C-T c.372G>A p.W124* Nonsense 4/10 - 1
2-209113136-C-T c.371G>A p.W124* Nonsense 4/10 - 1
2-209113138-T-C c.369A>G p.G123= Synonymous 4/10 - 1
2-209113139-C-T c.368G>A p.G123E Missense 4/10 - 3
2-209113140-C-G c.367G>C p.G123R Missense 4/10 - 11
2-209113140-C-T c.367G>A p.G123R Missense 4/10 - 14
2-209113142-C-T c.365G>A p.S122N Missense 4/10 - 1
2-209113143-T-A c.364A>T p.S122C Missense 4/10 - 1
2-209113144-C-G c.363G>C p.V121= Synonymous 4/10 - 1
2-209113144-C-CA c.362dup p.S122Efs*22 Frameshift 4/10 - 1
2-209113145-A-G c.362T>C p.V121A Missense 4/10 - 1
2-209113148-AG-GC c.358_359delinsGC p.L120A Missense 4/10 - 1
2-209113149-G-C c.358C>G p.L120V Missense 4/10 - 1
2-209113151-C-G c.356G>C p.R119P Missense 4/10 - 2
2-209113151-C-T c.356G>A p.R119Q Missense 4/10 - 5
2-209113152-G-A c.355C>T p.R119W Missense 4/10 - 4
2-209113154-G-A c.353C>T p.P118L Missense 4/10 - 3
2-209113155-G-A c.352C>T p.P118S Missense 4/10 - 2
2-209113160-T-C c.347A>G p.N116S Missense 4/10 - 2
2-209113159-AT-A c.347del p.N116Ifs*6 Frameshift 4/10 - 1
2-209113166-C-T c.341G>A p.C114Y Missense 4/10 - 1
2-209113169-A-G c.338T>C p.I113T Missense 4/10 - 2
2-209113170-T-C c.337A>G p.I113V Missense 4/10 - 1
2-209113172-A-G c.335T>C p.I112T Missense 4/10 - 1
2-209113173-T-C c.334A>G p.I112V Missense 4/10 - 2
2-209113175-G-A c.332C>T p.A111V Missense 4/10 - 2
2-209113175-G-T c.332C>A p.A111D Missense 4/10 - 1
2-209113176-C-T c.331G>A p.A111T Missense 4/10 - 1
2-209113177-T-C c.330A>G p.E110= Synonymous 4/10 - 1
2-209113181-C-T c.326G>A p.R109K Missense 4/10 - 5
2-209113181-CT-GC c.325_326delinsGC p.R109A Missense 4/10 - 1
2-209113182-T-C c.325A>G p.R109G Missense 4/10 - 1
2-209113185-A-G c.322T>C p.F108L Missense 4/10 - 1
2-209113187-A-G c.320T>C p.V107A Missense 4/10 - 1
2-209113189-C-A c.318G>T p.T106= Synonymous 4/10 - 1
2-209113189-C-G c.318G>C p.T106= Synonymous 4/10 - 2
2-209113189-C-T c.318G>A p.T106= Synonymous 4/10 - 1
2-209113190-G-A c.317C>T p.T106M Missense 4/10 - 3
2-209113192-G-A c.315C>T p.G105= Synonymous 4/10 - 55
2-209113192-G-C c.315C>G p.G105= Synonymous 4/10 - 16
2-209113192-G-T c.315C>A p.G105= Synonymous 4/10 - 16
2-209113193-C-T c.314G>A p.G105D Missense 4/10 - 1
2-209113195-A-G c.312T>C p.G104= Synonymous 4/10 - 1
2-209113196-C-A c.311G>T p.G104V Missense 4/10 - 1
2-209113196-C-T c.311G>A p.G104D Missense 4/10 - 1
2-209113200-G-T c.307C>A p.L103M Missense 4/10 - 1
2-209113202-A-G c.305T>C p.I102T Missense 4/10 - 2
2-209113206-T-A c.301A>T p.N101Y Missense 4/10 - 1
2-209113208-C-A c.299G>T p.R100L Missense 4/10 - 1
2-209113208-CG-GC c.298_299delinsGC p.R100A Missense 4/10 - 3
2-209113208-C-T c.299G>A p.R100Q Missense 4/10 - 18
2-209113209-CG-C c.298del p.R100Efs*22 Frameshift 4/10 - 1
2-209113209-G-A c.298C>T p.R100* Nonsense 4/10 - 5
2-209113209-G-T c.298C>A p.R100= Synonymous 4/10 - 1
2-209113210-T-C c.297A>G p.I99M Missense 4/10 - 12
2-209113211-A-G c.296T>C p.I99T Missense 4/10 - 1
2-209113214-G-A c.293C>T p.T98I Missense 4/10 - 1
2-209113214-GT-CC c.292_293delinsGG p.T98G Missense 4/10 - 178
2-209113217-C-T c.290G>A p.G97D Missense 4/10 - 11
2-209113220-T-A c.287A>T p.N96I Missense 4/10 - 1
2-209113220-T-C c.287A>G p.N96S Missense 4/10 - 1
2-209113222-TG-AT c.284_285delinsAT p.P95H Missense 4/10 - 1
2-209113223-G-A c.284C>T p.P95L Missense 4/10 - 3
2-209113223-G-C c.284C>G p.P95R Missense 4/10 - 2
2-209113223-G-T c.284C>A p.P95Q Missense 4/10 - 1
2-209113227-A-G c.280T>C p.S94P Missense 4/10 - 1
2-209113229-T-C c.278A>G p.K93R Missense 4/10 - 1
2-209113232-C-A c.275G>T p.W92L Missense 4/10 - 1
2-209113234-C-T c.273G>A p.M91I Missense 4/10 - 1
2-209113240-T-G c.267A>C p.K89N Missense 4/10 - 1
2-209113241-T-C c.266A>G p.K89R Missense 4/10 - 1
2-209113243-C-A c.264G>T p.L88F Missense 4/10 - 1
2-209113243-C-G c.264G>C p.L88F Missense 4/10 - 1
2-209113243-C-T c.264G>A p.L88= Synonymous 4/10 - 1
2-209113246-C-A c.261G>T p.K87N Missense 4/10 - 1
2-209113246-C-G c.261G>C p.K87N Missense 4/10 - 1
2-209113248-T-C c.259A>G p.K87E Missense 4/10 - 1
2-209113252-C-T c.255G>A p.E85= Synonymous 4/10 - 1
2-209113256-T-G c.251A>C p.E84A Missense 4/10 - 1
2-209113257-C-G c.250G>C p.E84Q Missense 4/10 - 1
2-209113260-C-A c.247G>T p.V83F Missense 4/10 - 1
2-209113261-CCT-ATG c.244_246delinsCAT p.R82H Missense 4/10 - 1
2-209113262-C-T c.245G>A p.R82K Missense 4/10 - 5
2-209113264-C-A c.243G>T p.K81N Missense 4/10 - 3
2-209113264-C-G c.243G>C p.K81N Missense 4/10 - 3
2-209113265-T-C c.242A>G p.K81R Missense 4/10 - 1
2-209113266-T-G c.241A>C p.K81Q Missense 4/10 - 1
2-209113268-T-A c.239A>T p.E80V Missense 4/10 - 1
2-209113271-T-A c.236A>T p.D79V Missense 4/10 - 1
2-209113271-TC-AG c.235_236delinsCT p.D79L Missense 4/10 - 1
2-209113272-C-T c.235G>A p.D79N Missense 4/10 - 1
2-209113274-G-A c.233C>T p.P78L Missense 4/10 - 1
2-209113274-G-C c.233C>G p.P78R Missense 4/10 - 1
2-209113273-AG-A c.233del p.P78Lfs*11 Frameshift 4/10 - 1
2-209113277-G-GT c.229dup p.T77Nfs*3 Frameshift 4/10 - 1
2-209113278-T-C c.229A>G p.T77A Missense 4/10 - 4
2-209113280-A-G c.227T>C p.I76T Missense 4/10 - 2
2-209113284-T-C c.223A>G p.T75A Missense 4/10 - 1
2-209113287-C-G c.220G>C p.A74P Missense 4/10 - 1
2-209113295-A-G c.212T>C p.V71A Missense 4/10 - 2
2-209113296-C-G c.211G>C p.V71L Missense 4/10 - 1
2-209113296-C-T c.211G>A p.V71I Missense 4/10 - 13
2-209113298-C-T c.209G>A p.G70D Missense 4/10 - 8
2-209113300-AA-CT c.206_207delinsAG p.V69E Missense 4/10 - 1
2-209113320-C-A c.187G>T p.A63S Missense 4/10 - 1
2-209113324-T-A c.183A>T p.A61= Synonymous 4/10 - 2
2-209113324-T-C c.183A>G p.A61= Synonymous 4/10 - 2
2-209113324-T-G c.183A>C p.A61= Synonymous 4/10 - 2
2-209113324-TGC-ACA c.181_183delinsTGT p.A61C Missense 4/10 - 2
2-209113327-AGC-CTT c.178_180delinsAAG p.A60K Missense 4/10 - 1
2-209113328-G-A c.179C>T p.A60V Missense 4/10 - 1
2-209113328-GC-AG c.178_179delinsCT p.A60L Missense 4/10 - 1
2-209113328-GC-AT c.178_179delinsAT p.A60I Missense 4/10 - 1
2-209113331-TC-AA c.175_176delinsTT p.D59F Missense 4/10 - 1
2-209113331-TC-CA c.175_176delinsTG p.D59C Missense 4/10 - 1
2-209113337-G-C c.170C>G p.T57S Missense 4/10 - 1
2-209113338-T-C c.169A>G p.T57A Missense 4/10 - 1
2-209113345-G-A c.162C>T p.D54= Synonymous 4/10 - 1
2-209113347-C-A c.160G>T p.D54Y Missense 4/10 - 1
2-209113347-C-T c.160G>A p.D54N Missense 4/10 - 3
2-209113354-G-A c.153C>T p.A51= Synonymous 4/10 - 1
2-209113354-G-C c.153C>G p.A51= Synonymous 4/10 - 1
2-209113354-GG-CT c.152_153delinsAG p.A51E Missense 4/10 - 1
2-209113354-G-T c.153C>A p.A51= Synonymous 4/10 - 1
2-209113355-G-C c.152C>G p.A51G Missense 4/10 - 1
2-209113355-G-T c.152C>A p.A51D Missense 4/10 - 1
2-209113356-C-T c.151G>A p.A51T Missense 4/10 - 1
2-209113358-TC-AA c.148_149delinsTT p.D50F Missense 4/10 - 1
2-209113361-C-A c.146G>T p.R49L Missense 4/10 - 1
2-209113361-C-T c.146G>A p.R49H Missense 4/10 - 1
2-209113362-G-A c.145C>T p.R49C Missense 4/10 - 9
2-209113368-C-G c.139G>C p.E47Q Missense 4/10 - 1
2-209113368-C-T c.139G>A p.E47K Missense 4/10 - 1
2-209113371-T-C c.136A>G p.I46V Missense 4/10 - 1
2-209113373-C-T c.134G>A p.G45D Missense 4/10 - 1
2-209113380-C-G c.127G>C p.D43H Missense 4/10 - 1
2-209113380-C-T c.127G>A p.D43N Missense 4/10 - 1
2-209113381-A-C c.126T>G p.Y42* Nonsense 4/10 - 1
2-209113381-A-T c.126T>A p.Y42* Nonsense 4/10 - 1
2-209113382-T-A c.125A>T p.Y42F Missense 4/10 - 1
2-209116154-C-T c.122G>A p.S41N Missense 3/10 - 2
2-209116162-A-C c.114T>G p.D38E Missense 3/10 - 1
2-209116162-A-T c.114T>A p.D38E Missense 3/10 - 1
2-209116164-C-T c.112G>A p.D38N Missense 3/10 - 1
2-209116173-C-T c.103G>A p.V35M Missense 3/10 - 1
2-209116175-T-C c.101A>G p.Y34C Missense 3/10 - 1
2-209116179-G-A c.97C>T p.P33S Missense 3/10 - 4
2-209116181-AA-GC c.94_95delinsGC p.F32A Missense 3/10 - 1
2-209116182-A-C c.94T>G p.F32V Missense 3/10 - 4
2-209116188-G-A c.88C>T p.L30F Missense 3/10 - 1
2-209116189-T-C c.87A>G p.K29= Synonymous 3/10 - 1
2-209116194-C-G c.82G>C p.E28Q Missense 3/10 - 1
2-209116195-TT-CA c.80_81delinsTG p.K27M Missense 3/10 - 360
2-209116197-T-G c.79A>C p.K27Q Missense 3/10 - 1
2-209116202-AA-GG c.73_74delinsCC p.L25P Missense 3/10 - 1
2-209116206-C-T c.70G>A p.E24K Missense 3/10 - 1
2-209116214-A-T c.62T>A p.I21N Missense 3/10 - 1
2-209116217-C-T c.59G>A p.R20Q Missense 3/10 - 3
2-209116218-G-A c.58C>T p.R20* Nonsense 3/10 - 1
2-209116225-T-C c.51A>G p.E17= Synonymous 3/10 - 1
2-209116227-C-T c.49G>A p.E17K Missense 3/10 - 4
2-209116229-T-G c.47A>C p.D16A Missense 3/10 - 1
2-209116230-C-G c.46G>C p.D16H Missense 3/10 - 1
2-209116231-TC-GT c.44_45delinsAC p.G15D Missense 3/10 - 3
2-209116232-C-T c.44G>A p.G15E Missense 3/10 - 1
2-209116234-TTG-GTC c.40_42delinsGAC p.Q14D Missense 3/10 - 1
2-209116237-CAT-AAA c.37_39delinsTTT p.M13F Missense 3/10 - 9
2-209116237-CAT-ACA c.37_39delinsTGT p.M13C Missense 3/10 - 1
2-209116238-A-C c.38T>G p.M13R Missense 3/10 - 7
2-209116240-C-G c.36G>C p.E12D Missense 3/10 - 1
2-209116241-T-G c.35A>C p.E12A Missense 3/10 - 1
2-209116245-C-T c.31G>A p.V11I Missense 3/10 - 1
2-209116253-C-T c.23G>A p.G8D Missense 3/10 - 1
2-209116254-C-T c.22G>A p.G8S Missense 3/10 - 1
2-209116258-A-G c.18T>C p.S6= Synonymous 3/10 - 1
2-209116263-T-C c.13A>G p.I5V Missense 3/10 - 1
2-209116262-AT-A c.13del p.I5Sfs*7 Frameshift 3/10 - 1
2-209116269-T-TA c.6_7insT p.K3* Nonsense 3/10 - 1
2-209116271-G-T c.5C>A p.S2Y Missense 3/10 - 1
2-209116753-G-A c.-16-462C>T - IntronicSNV - 2/9 1
2-209117297-C-T c.-16-1006G>A - IntronicSNV - 2/9 1
2-209117317-A-G c.-16-1026T>C - IntronicSNV - 2/9 3
2-209117317-A-T c.-16-1026T>A - IntronicSNV - 2/9 3