GRID1

GRID1 glutamate ionotropic receptor delta type subunit 1

Annotation transcript: NM_017551.3

1760 unique variant annotations were identified in 609 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-87359674-T-A c.*2356A>T - 3-UTRSNV 16/16 - 1
10-87359674-T-C c.*2356A>G - 3-UTRSNV 16/16 - 1
10-87359826-A-G c.*2204T>C - 3-UTRSNV 16/16 - 4
10-87360712-G-A c.*1318C>T - 3-UTRSNV 16/16 - 2
10-87360712-G-C c.*1318C>G - 3-UTRSNV 16/16 - 2
10-87360723-A-G c.*1307T>C - 3-UTRSNV 16/16 - 2
10-87361937-C-T c.*93G>A - 3-UTRSNV 16/16 - 1
10-87361961-G-A c.*69C>T - 3-UTRSNV 16/16 - 5
10-87361998-T-G c.*32A>C - 3-UTRSNV 16/16 - 1
10-87362022-C-T c.*8G>A - 3-UTRSNV 16/16 - 1
10-87362031-C-T c.3029G>A p.*1010= Synonymous 16/16 - 1
10-87362036-G-A c.3024C>T p.S1008= Synonymous 16/16 - 2
10-87362040-G-T c.3020C>A p.T1007N Missense 16/16 - 1
10-87362041-T-G c.3019A>C p.T1007P Missense 16/16 - 1
10-87362042-C-G c.3018G>C p.G1006= Synonymous 16/16 - 1
10-87362044-C-A c.3016G>T p.G1006W Missense 16/16 - 2
10-87362044-C-G c.3016G>C p.G1006R Missense 16/16 - 1
10-87362044-C-T c.3016G>A p.G1006R Missense 16/16 - 2
10-87362045-G-A c.3015C>T p.H1005= Synonymous 16/16 - 3
10-87362045-G-C c.3015C>G p.H1005Q Missense 16/16 - 1
10-87362045-G-T c.3015C>A p.H1005Q Missense 16/16 - 2
10-87362049-G-A c.3011C>T p.S1004F Missense 16/16 - 1
10-87362058-A-T c.3002T>A p.L1001Q Missense 16/16 - 1
10-87362062-C-T c.2998G>A p.A1000T Missense 16/16 - 2
10-87362068-G-A c.2992C>T p.P998S Missense 16/16 - 4
10-87362071-G-A c.2989C>T p.L997F Missense 16/16 - 1
10-87362072-G-A c.2988C>T p.V996= Synonymous 16/16 - 1
10-87362074-C-T c.2986G>A p.V996I Missense 16/16 - 4
10-87362075-G-A c.2985C>T p.G995= Synonymous 16/16 - 2
10-87362075-G-T c.2985C>A p.G995= Synonymous 16/16 - 1
10-87362079-C-G c.2981G>C p.G994A Missense 16/16 - 1
10-87362080-C-T c.2980G>A p.G994R Missense 16/16 - 4
10-87362083-G-A c.2977C>T p.P993S Missense 16/16 - 1
10-87362086-C-A c.2974G>T p.V992L Missense 16/16 - 1
10-87362088-G-A c.2972C>T p.P991L Missense 16/16 - 4
10-87362089-G-A c.2971C>T p.P991S Missense 16/16 - 1
10-87362090-C-A c.2970G>T p.Q990H Missense 16/16 - 1
10-87362090-C-G c.2970G>C p.Q990H Missense 16/16 - 1
10-87362091-T-C c.2969A>G p.Q990R Missense 16/16 - 1
10-87362093-G-A c.2967C>T p.F989= Synonymous 16/16 - 2
10-87362096-G-A c.2964C>T p.S988= Synonymous 16/16 - 3
10-87362098-A-T c.2962T>A p.S988T Missense 16/16 - 2
10-87362101-T-A c.2959A>T p.M987L Missense 16/16 - 1
10-87362101-T-G c.2959A>C p.M987L Missense 16/16 - 1
10-87362102-G-A c.2958C>T p.P986= Synonymous 16/16 - 1
10-87362103-G-T c.2957C>A p.P986H Missense 16/16 - 3
10-87362104-G-A c.2956C>T p.P986S Missense 16/16 - 3
10-87362104-G-T c.2956C>A p.P986T Missense 16/16 - 1
10-87362105-G-A c.2955C>T p.I985= Synonymous 16/16 - 2
10-87362109-G-A c.2951C>T p.P984L Missense 16/16 - 1
10-87362110-G-A c.2950C>T p.P984S Missense 16/16 - 1
10-87362110-G-T c.2950C>A p.P984T Missense 16/16 - 1
10-87362113-T-C c.2947A>G p.T983A Missense 16/16 - 1
10-87362113-T-G c.2947A>C p.T983P Missense 16/16 - 1
10-87362114-C-T c.2946G>A p.K982= Synonymous 16/16 - 3
10-87362117-C-T c.2943G>A p.V981= Synonymous 16/16 - 1
10-87362118-A-T c.2942T>A p.V981E Missense 16/16 - 1
10-87362118-AC-A c.2941del p.V981* Frameshift 16/16 - 1
10-87362121-G-A c.2939C>T p.P980L Missense 16/16 - 2
10-87362123-G-C c.2937C>G p.S979R Missense 16/16 - 1
10-87362124-C-T c.2936G>A p.S979N Missense 16/16 - 3
10-87362126-C-T c.2934G>A p.Q978= Synonymous 16/16 - 4
10-87362128-G-A c.2932C>T p.Q978* Nonsense 16/16 - 2
10-87362128-G-C c.2932C>G p.Q978E Missense 16/16 - 1
10-87362129-C-A c.2931G>T p.R977= Synonymous 16/16 - 1
10-87362130-C-T c.2930G>A p.R977Q Missense 16/16 - 1
10-87362131-G-A c.2929C>T p.R977W Missense 16/16 - 7
10-87362132-G-C c.2928C>G p.F976L Missense 16/16 - 1
10-87362135-C-T c.2925G>A p.L975= Synonymous 16/16 - 2
10-87362139-C-A c.2921G>T p.G974V Missense 16/16 - 1
10-87362141-C-A c.2919G>T p.G973= Synonymous 16/16 - 1
10-87362141-C-G c.2919G>C p.G973= Synonymous 16/16 - 1
10-87362141-C-T c.2919G>A p.G973= Synonymous 16/16 - 4
10-87362142-C-A c.2918G>T p.G973V Missense 16/16 - 1
10-87362142-CC-TT c.2917_2918delinsAA p.G973K Missense 16/16 - 1
10-87362142-C-G c.2918G>C p.G973A Missense 16/16 - 1
10-87362142-C-T c.2918G>A p.G973E Missense 16/16 - 7
10-87362137-G-GC c.2922dup p.L975Afs*86 Frameshift 16/16 - 1
10-87362143-C-A c.2917G>T p.G973W Missense 16/16 - 2
10-87362143-C-T c.2917G>A p.G973R Missense 16/16 - 1
10-87362144-G-A c.2916C>T p.N972= Synonymous 16/16 - 4
10-87362147-G-A c.2913C>T p.P971= Synonymous 16/16 - 2
10-87362147-G-C c.2913C>G p.P971= Synonymous 16/16 - 2
10-87362147-G-T c.2913C>A p.P971= Synonymous 16/16 - 4
10-87362151-G-A c.2909C>T p.S970L Missense 16/16 - 5
10-87362151-G-C c.2909C>G p.S970* Nonsense 16/16 - 1
10-87362151-G-T c.2909C>A p.S970* Nonsense 16/16 - 3
10-87362153-C-T c.2907G>A p.R969= Synonymous 16/16 - 1
10-87362154-C-T c.2906G>A p.R969K Missense 16/16 - 1
10-87362157-T-C c.2903A>G p.H968R Missense 16/16 - 1
10-87362162-G-A c.2898C>T p.C966= Synonymous 16/16 - 1
10-87362168-C-A c.2892G>T p.M964I Missense 16/16 - 1
10-87362168-C-G c.2892G>C p.M964I Missense 16/16 - 1
10-87362168-C-T c.2892G>A p.M964I Missense 16/16 - 1
10-87362169-A-G c.2891T>C p.M964T Missense 16/16 - 1
10-87362170-T-C c.2890A>G p.M964V Missense 16/16 - 2
10-87362172-G-A c.2888C>T p.S963F Missense 16/16 - 3
10-87362173-A-G c.2887T>C p.S963P Missense 16/16 - 2
10-87362175-G-T c.2885C>A p.P962H Missense 16/16 - 2
10-87362177-C-A c.2883G>T p.M961I Missense 16/16 - 1
10-87362177-C-G c.2883G>C p.M961I Missense 16/16 - 1
10-87362177-C-T c.2883G>A p.M961I Missense 16/16 - 1
10-87362183-C-A c.2877G>T p.A959= Synonymous 16/16 - 3
10-87362183-C-G c.2877G>C p.A959= Synonymous 16/16 - 1
10-87362183-C-T c.2877G>A p.A959= Synonymous 16/16 - 2
10-87362185-C-T c.2875G>A p.A959T Missense 16/16 - 1
10-87362186-C-A c.2874G>T p.S958= Synonymous 16/16 - 3
10-87362186-C-G c.2874G>C p.S958= Synonymous 16/16 - 3
10-87362186-C-T c.2874G>A p.S958= Synonymous 16/16 - 5
10-87362187-G-A c.2873C>T p.S958L Missense 16/16 - 1
10-87362198-C-T c.2862G>A p.P954= Synonymous 16/16 - 1
10-87362199-G-A c.2861C>T p.P954L Missense 16/16 - 1
10-87362199-G-C c.2861C>G p.P954R Missense 16/16 - 2
10-87362200-G-A c.2860C>T p.P954S Missense 16/16 - 2
10-87362204-C-A c.2856G>T p.P952= Synonymous 16/16 - 4
10-87362204-C-G c.2856G>C p.P952= Synonymous 16/16 - 1
10-87362204-C-T c.2856G>A p.P952= Synonymous 16/16 - 6
10-87362205-G-A c.2855C>T p.P952L Missense 16/16 - 1
10-87362209-G-C c.2851C>G p.L951V Missense 16/16 - 1
10-87362211-T-C c.2849A>G p.N950S Missense 16/16 - 4
10-87362212-T-C c.2848A>G p.N950D Missense 16/16 - 1
10-87362214-C-T c.2846G>A p.S949N Missense 16/16 - 1
10-87362220-G-T c.2840C>A p.P947H Missense 16/16 - 2
10-87362222-C-T c.2838G>A p.G946= Synonymous 16/16 - 1
10-87362224-C-A c.2836G>T p.G946W Missense 16/16 - 1
10-87362226-G-A c.2834C>T p.S945L Missense 16/16 - 2
10-87362227-A-T c.2833T>A p.S945T Missense 16/16 - 1
10-87362228-T-G c.2832A>C p.S944= Synonymous 16/16 - 1
10-87362229-G-T c.2831C>A p.S944* Nonsense 16/16 - 2
10-87362230-A-G c.2830T>C p.S944P Missense 16/16 - 1
10-87362231-G-C c.2829C>G p.L943= Synonymous 16/16 - 1
10-87362231-G-T c.2829C>A p.L943= Synonymous 16/16 - 1
10-87362238-C-T c.2822G>A p.R941Q Missense 16/16 - 3
10-87362237-C-A c.2823G>T p.R941= Synonymous 16/16 - 1
10-87362237-C-G c.2823G>C p.R941= Synonymous 16/16 - 1
10-87362237-C-T c.2823G>A p.R941= Synonymous 16/16 - 1
10-87362239-G-A c.2821C>T p.R941W Missense 16/16 - 8
10-87362239-G-T c.2821C>A p.R941= Synonymous 16/16 - 2
10-87362240-G-C c.2820C>G p.S940R Missense 16/16 - 2
10-87362240-G-T c.2820C>A p.S940R Missense 16/16 - 3
10-87362242-T-G c.2818A>C p.S940R Missense 16/16 - 2
10-87362247-C-A c.2813G>T p.G938V Missense 16/16 - 1
10-87362248-C-G c.2812G>C p.G938R Missense 16/16 - 2
10-87362248-C-T c.2812G>A p.G938S Missense 16/16 - 1
10-87362257-T-A c.2803A>T p.S935C Missense 16/16 - 2
10-87362257-T-G c.2803A>C p.S935R Missense 16/16 - 1
10-87362260-G-T c.2800C>A p.Q934K Missense 16/16 - 1
10-87362263-C-T c.2797G>A p.E933K Missense 16/16 - 1
10-87362267-C-A c.2793G>T p.L931= Synonymous 16/16 - 3
10-87362267-C-G c.2793G>C p.L931= Synonymous 16/16 - 1
10-87362267-C-T c.2793G>A p.L931= Synonymous 16/16 - 1
10-87362269-G-A c.2791C>T p.L931= Synonymous 16/16 - 5
10-87362273-GG-CA c.2786_2787delinsTG p.T929M Missense 16/16 - 1
10-87362274-G-A c.2786C>T p.T929I Missense 16/16 - 1
10-87362278-T-C c.2782A>G p.S928G Missense 16/16 - 1
10-87362279-G-A c.2781C>T p.V927= Synonymous 16/16 - 2
10-87362279-G-C c.2781C>G p.V927= Synonymous 16/16 - 2
10-87362279-G-T c.2781C>A p.V927= Synonymous 16/16 - 2
10-87362281-C-T c.2779G>A p.V927I Missense 16/16 - 1
10-87362282-C-A c.2778G>T p.S926= Synonymous 16/16 - 1
10-87362282-C-G c.2778G>C p.S926= Synonymous 16/16 - 1
10-87362282-C-T c.2778G>A p.S926= Synonymous 16/16 - 2
10-87362285-G-A c.2775C>T p.L925= Synonymous 16/16 - 1
10-87362286-A-C c.2774T>G p.L925R Missense 16/16 - 2
10-87362286-A-T c.2774T>A p.L925H Missense 16/16 - 1
10-87362287-G-A c.2773C>T p.L925F Missense 16/16 - 1
10-87362287-G-C c.2773C>G p.L925V Missense 16/16 - 1
10-87362288-C-A c.2772G>T p.Q924H Missense 16/16 - 1
10-87362288-C-G c.2772G>C p.Q924H Missense 16/16 - 1
10-87362291-G-A c.2769C>T p.T923= Synonymous 16/16 - 1
10-87362294-G-A c.2766C>T p.N922= Synonymous 16/16 - 1
10-87362298-T-C c.2762A>G p.Q921R Missense 16/16 - 1
10-87362299-G-A c.2761C>T p.Q921* Nonsense 16/16 - 1
10-87362302-A-G c.2758T>C p.Y920H Missense 16/16 - 1
10-87362305-C-T c.2755G>A p.E919K Missense 16/16 - 2
10-87362306-C-T c.2754G>A p.R918= Synonymous 16/16 - 2
10-87362307-C-T c.2753G>A p.R918Q Missense 16/16 - 6
10-87362310-G-C c.2750C>G p.T917R Missense 16/16 - 1
10-87362312-C-T c.2748G>A p.P916= Synonymous 16/16 - 1
10-87362313-G-A c.2747C>T p.P916L Missense 16/16 - 4
10-87362317-C-T c.2743G>A p.E915K Missense 16/16 - 1
10-87362321-G-A c.2739C>T p.T913= Synonymous 16/16 - 1
10-87362321-GG-CA c.2738_2739delinsTG p.T913M Missense 16/16 - 1
10-87362322-G-A c.2738C>T p.T913I Missense 16/16 - 1
10-87362323-T-C c.2737A>G p.T913A Missense 16/16 - 1
10-87362324-C-A c.2736G>T p.Q912H Missense 16/16 - 2
10-87362324-C-G c.2736G>C p.Q912H Missense 16/16 - 2
10-87362327-G-T c.2733C>A p.T911= Synonymous 16/16 - 2
10-87362328-G-C c.2732C>G p.T911S Missense 16/16 - 1
10-87362329-T-A c.2731A>T p.T911S Missense 16/16 - 1
10-87362332-G-A c.2728C>T p.P910S Missense 16/16 - 5
10-87362335-C-T c.2725G>A p.A909T Missense 16/16 - 1
10-87362337-A-G c.2723T>C p.L908P Missense 16/16 - 1
10-87362341-C-T c.2719G>A p.G907S Missense 16/16 - 1
10-87362342-C-T c.2718G>A p.G906= Synonymous 16/16 - 1
10-87362343-C-A c.2717G>T p.G906V Missense 16/16 - 7
10-87362339-G-GC c.2720dup p.L908Pfs*153 Frameshift 16/16 - 1
10-87362349-T-A c.2711A>T p.E904V Missense 16/16 - 2
10-87362350-C-G c.2710G>C p.E904Q Missense 16/16 - 1
10-87362351-CAG-AAA c.2707_2709delinsTTT p.L903F Missense 16/16 - 1
10-87362353-G-T c.2707C>A p.L903M Missense 16/16 - 1
10-87362356-C-T c.2704G>A p.A902T Missense 16/16 - 2
10-87362357-C-T c.2703G>A p.S901= Synonymous 16/16 - 1
10-87362365-C-G c.2695G>C p.E899Q Missense 16/16 - 1
10-87362365-C-T c.2695G>A p.E899K Missense 16/16 - 5
10-87362367-A-C c.2693T>G p.I898S Missense 16/16 - 2
10-87362369-C-A c.2691G>T p.S897= Synonymous 16/16 - 4
10-87362369-C-G c.2691G>C p.S897= Synonymous 16/16 - 3
10-87362369-C-T c.2691G>A p.S897= Synonymous 16/16 - 5
10-87362370-G-A c.2690C>T p.S897L Missense 16/16 - 3
10-87362372-C-T c.2688G>A p.A896= Synonymous 16/16 - 1
10-87362373-G-A c.2687C>T p.A896V Missense 16/16 - 2
10-87362374-C-T c.2686G>A p.A896T Missense 16/16 - 1
10-87362376-G-T c.2684C>A p.P895Q Missense 16/16 - 1
10-87362377-G-T c.2683C>A p.P895T Missense 16/16 - 1
10-87362379-G-A c.2681C>T p.S894F Missense 16/16 - 2
10-87362384-C-T c.2676G>A p.Q892= Synonymous 16/16 - 3
10-87362397-A-G c.2663T>C p.I888T Missense 16/16 - 1
10-87362398-T-A c.2662A>T p.I888F Missense 16/16 - 1
10-87362401-C-A c.2659G>T p.D887Y Missense 16/16 - 1
10-87362404-C-T c.2656G>A p.E886K Missense 16/16 - 2
10-87362407-C-T c.2653G>A p.D885N Missense 16/16 - 3
10-87362409-A-T c.2651T>A p.M884K Missense 16/16 - 1
10-87362413-G-A c.2647C>T p.L883F Missense 16/16 - 4
10-87362418-T-C c.2642A>G p.N881S Missense 16/16 - 2
10-87362420-C-G c.2640G>C p.M880I Missense 16/16 - 1
10-87362424-C-T c.2636G>A p.R879H Missense 16/16 - 9
10-87362425-G-A c.2635C>T p.R879C Missense 16/16 - 2
10-87362425-G-T c.2635C>A p.R879S Missense 16/16 - 2
10-87362428-G-A c.2632C>T p.R878W Missense 16/16 - 4
10-87362428-G-C c.2632C>G p.R878G Missense 16/16 - 1
10-87362432-G-A c.2628C>T p.V876= Synonymous 16/16 - 1
10-87362441-C-T c.2619G>A p.L873= Synonymous 16/16 - 2
10-87362443-A-G c.2617T>C p.L873= Synonymous 16/16 - 1
10-87362452-C-A c.2608G>T p.E870* Nonsense 16/16 - 2
10-87362452-C-G c.2608G>C p.E870Q Missense 16/16 - 1
10-87362452-C-T c.2608G>A p.E870K Missense 16/16 - 2
10-87362458-C-G c.2602G>C p.D868H Missense 16/16 - 1
10-87362458-C-T c.2602G>A p.D868N Missense 16/16 - 3
10-87362464-G-A c.2602-6C>T - IntronicSNV - 15/15 1
10-87362579-T-A c.2602-121A>T - IntronicSNV - 15/15 1
10-87365215-A-T c.2602-2757T>A - IntronicSNV - 15/15 1
10-87365522-C-A c.2602-3064G>T - IntronicSNV - 15/15 2
10-87365776-T-C c.2602-3318A>G - IntronicSNV - 15/15 2
10-87365936-C-G c.2602-3478G>C - IntronicSNV - 15/15 1
10-87365936-C-T c.2602-3478G>A - IntronicSNV - 15/15 1
10-87365997-T-C c.2602-3539A>G - IntronicSNV - 15/15 2
10-87365997-T-G c.2602-3539A>C - IntronicSNV - 15/15 2
10-87368788-C-A c.2601+4376G>T - IntronicSNV - 15/15 1
10-87368788-C-G c.2601+4376G>C - IntronicSNV - 15/15 1
10-87368788-C-T c.2601+4376G>A - IntronicSNV - 15/15 1
10-87369444-G-A c.2601+3720C>T - IntronicSNV - 15/15 1
10-87373089-C-T c.2601+75G>A - IntronicSNV - 15/15 1
10-87373143-G-T c.2601+21C>A - IntronicSNV - 15/15 1
10-87373164-C-T c.2601G>A p.E867= Synonymous 15/16 - 3
10-87373166-C-T c.2599G>A p.E867K Missense 15/16 - 2
10-87373167-C-A c.2598G>T p.K866N Missense 15/16 - 1
10-87373167-C-T c.2598G>A p.K866= Synonymous 15/16 - 2
10-87373171-G-A c.2594C>T p.P865L Missense 15/16 - 4
10-87373172-G-A c.2593C>T p.P865S Missense 15/16 - 1
10-87373176-C-T c.2589G>A p.E863= Synonymous 15/16 - 1
10-87373186-CA-GT c.2578_2579delinsAC p.C860T Missense 15/16 - 1
10-87373189-C-T c.2576G>A p.R859Q Missense 15/16 - 3
10-87373190-G-A c.2575C>T p.R859W Missense 15/16 - 1
10-87373203-C-A c.2562G>T p.W854C Missense 15/16 - 1
10-87373203-C-G c.2562G>C p.W854C Missense 15/16 - 1
10-87373214-G-C c.2551C>G p.L851V Missense 15/16 - 1
10-87373219-G-A c.2546C>T p.A849V Missense 15/16 - 2
10-87373224-C-T c.2541G>A p.L847= Synonymous 15/16 - 1
10-87373228-C-T c.2537G>A p.C846Y Missense 15/16 - 1
10-87373230-G-A c.2535C>T p.A845= Synonymous 15/16 - 1
10-87373235-G-C c.2530C>G p.L844V Missense 15/16 - 1
10-87373241-G-C c.2524C>G p.L842V Missense 15/16 - 1
10-87373244-C-T c.2521G>A p.G841S Missense 15/16 - 1
10-87373264-A-AT c.2500_2501insA p.V834Dfs*53 Frameshift 15/16 - 1
10-87373267-C-T c.2498G>A p.G833E Missense 15/16 - 2
10-87373264-AC-A c.2500del p.V834Sfs*38 Frameshift 15/16 - 1
10-87373268-C-G c.2497G>C p.G833R Missense 15/16 - 2
10-87373268-C-T c.2497G>A p.G833R Missense 15/16 - 1
10-87373269-G-A c.2496C>T p.A832= Synonymous 15/16 - 3
10-87373269-G-C c.2496C>G p.A832= Synonymous 15/16 - 1
10-87373269-G-T c.2496C>A p.A832= Synonymous 15/16 - 1
10-87373271-C-T c.2494G>A p.A832T Missense 15/16 - 3
10-87373272-G-A c.2493C>T p.F831= Synonymous 15/16 - 3
10-87373272-G-C c.2493C>G p.F831L Missense 15/16 - 1
10-87373272-G-T c.2493C>A p.F831L Missense 15/16 - 1
10-87373274-A-G c.2491T>C p.F831L Missense 15/16 - 1
10-87373279-T-C c.2486A>G p.H829R Missense 15/16 - 2
10-87373280-G-A c.2485C>T p.H829Y Missense 15/16 - 1
10-87373282-A-T c.2483T>A p.L828Q Missense 15/16 - 2
10-87373284-C-A c.2481G>T p.K827N Missense 15/16 - 1
10-87373287-G-A c.2478C>T p.L826= Synonymous 15/16 - 1
10-87373287-G-C c.2478C>G p.L826= Synonymous 15/16 - 2
10-87373287-G-T c.2478C>A p.L826= Synonymous 15/16 - 1
10-87373289-G-A c.2476C>T p.L826F Missense 15/16 - 2
10-87373291-G-A c.2474C>T p.S825F Missense 15/16 - 3
10-87373296-G-A c.2469C>T p.G823= Synonymous 15/16 - 1
10-87373296-G-C c.2469C>G p.G823= Synonymous 15/16 - 1
10-87373296-G-T c.2469C>A p.G823= Synonymous 15/16 - 1
10-87373297-C-T c.2468G>A p.G823D Missense 15/16 - 1
10-87373298-C-T c.2467G>A p.G823S Missense 15/16 - 1
10-87373299-G-A c.2466C>T p.D822= Synonymous 15/16 - 1
10-87373301-C-T c.2464G>A p.D822N Missense 15/16 - 4
10-87373304-C-T c.2461G>A p.A821T Missense 15/16 - 2
10-87373307-G-C c.2458C>G p.Q820E Missense 15/16 - 1
10-87373307-G-T c.2458C>A p.Q820K Missense 15/16 - 2
10-87373316-C-A c.2449G>T p.A817S Missense 15/16 - 2
10-87373320-G-C c.2445C>G p.S815R Missense 15/16 - 1
10-87373320-G-T c.2445C>A p.S815R Missense 15/16 - 1
10-87373322-T-G c.2443A>C p.S815R Missense 15/16 - 1
10-87373321-C-T c.2444G>A p.S815N Missense 15/16 - 1
10-87373323-GG-CA c.2441_2442delinsTG p.T814M Missense 15/16 - 1
10-87373323-G-T c.2442C>A p.T814= Synonymous 15/16 - 1
10-87373324-G-C c.2441C>G p.T814S Missense 15/16 - 1
10-87373325-T-G c.2440A>C p.T814P Missense 15/16 - 1
10-87373329-G-A c.2436C>T p.D812= Synonymous 15/16 - 1
10-87373336-C-T c.2429G>A p.R810H Missense 15/16 - 1
10-87373338-G-T c.2427C>A p.G809= Synonymous 15/16 - 1
10-87373339-C-A c.2426G>T p.G809V Missense 15/16 - 2
10-87373340-C-A c.2425G>T p.G809C Missense 15/16 - 4
10-87373341-C-A c.2424G>T p.M808I Missense 15/16 - 1
10-87373341-C-G c.2424G>C p.M808I Missense 15/16 - 1
10-87373341-C-T c.2424G>A p.M808I Missense 15/16 - 1
10-87373342-A-G c.2423T>C p.M808T Missense 15/16 - 1
10-87373344-G-C c.2421C>G p.H807Q Missense 15/16 - 1
10-87373344-G-T c.2421C>A p.H807Q Missense 15/16 - 1
10-87373347-C-T c.2418G>A p.P806= Synonymous 15/16 - 1
10-87373349-G-A c.2416C>T p.P806S Missense 15/16 - 1
10-87373356-C-A c.2409G>T p.K803N Missense 15/16 - 1
10-87373356-C-T c.2409G>A p.K803= Synonymous 15/16 - 1
10-87373360-T-C c.2405A>G p.Q802R Missense 15/16 - 1
10-87373363-T-C c.2402A>G p.K801R Missense 15/16 - 2
10-87373365-C-T c.2400G>A p.L800= Synonymous 15/16 - 1
10-87373366-A-T c.2399T>A p.L800Q Missense 15/16 - 1
10-87373369-A-T c.2396T>A p.V799E Missense 15/16 - 1
10-87373377-G-A c.2388C>T p.D796= Synonymous 15/16 - 1
10-87373379-C-T c.2386G>A p.D796N Missense 15/16 - 2
10-87373381-C-T c.2384G>A p.G795E Missense 15/16 - 2
10-87373378-TC-T c.2386del p.D796Tfs*5 Frameshift 15/16 - 1
10-87373387-T-A c.2378A>T p.D793V Missense 15/16 - 1
10-87373391-G-T c.2374C>A p.Q792K Missense 15/16 - 1
10-87373392-C-A c.2373G>T p.L791= Synonymous 15/16 - 2
10-87373392-C-G c.2373G>C p.L791= Synonymous 15/16 - 2
10-87373392-C-T c.2373G>A p.L791= Synonymous 15/16 - 2
10-87373394-G-A c.2371C>T p.L791= Synonymous 15/16 - 2
10-87373401-G-A c.2364C>T p.I788= Synonymous 15/16 - 1
10-87373401-G-T c.2364C>A p.I788= Synonymous 15/16 - 1
10-87373404-C-T c.2361G>A p.R787= Synonymous 15/16 - 1
10-87378404-G-A c.2360+1220C>T - IntronicSNV - 14/15 1
10-87379597-G-A c.2360+27C>T - IntronicSNV - 14/15 1
10-87379628-G-T c.2356C>A p.Q786K Missense 14/16 - 2
10-87379642-C-A c.2342G>T p.R781M Missense 14/16 - 1
10-87379643-T-A c.2341A>T p.R781W Missense 14/16 - 1
10-87379647-G-T c.2337C>A p.P779= Synonymous 14/16 - 1
10-87379648-G-A c.2336C>T p.P779L Missense 14/16 - 1
10-87379649-G-A c.2335C>T p.P779S Missense 14/16 - 3
10-87379654-C-G c.2330G>C p.G777A Missense 14/16 - 1
10-87379661-G-T c.2323C>A p.Q775K Missense 14/16 - 2
10-87379662-C-T c.2322G>A p.L774= Synonymous 14/16 - 1
10-87379663-A-G c.2321T>C p.L774P Missense 14/16 - 1
10-87379665-G-A c.2319C>T p.A773= Synonymous 14/16 - 1
10-87379665-G-C c.2319C>G p.A773= Synonymous 14/16 - 1
10-87379665-G-T c.2319C>A p.A773= Synonymous 14/16 - 1
10-87379670-T-G c.2314A>C p.I772L Missense 14/16 - 1
10-87379671-C-A c.2313G>T p.G771= Synonymous 14/16 - 1
10-87379672-C-T c.2312G>A p.G771E Missense 14/16 - 3
10-87379673-C-T c.2311G>A p.G771R Missense 14/16 - 2
10-87379674-G-A c.2310C>T p.Y770= Synonymous 14/16 - 2
10-87379675-T-C c.2309A>G p.Y770C Missense 14/16 - 1
10-87379676-A-T c.2308T>A p.Y770N Missense 14/16 - 3
10-87379678-C-A c.2306G>T p.G769V Missense 14/16 - 1
10-87379678-C-T c.2306G>A p.G769D Missense 14/16 - 1
10-87379680-CCTT-C c.2302_2304del p.K768del InFrameDeletion 14/16 - 1
10-87379684-C-A c.2300G>T p.S767I Missense 14/16 - 2
10-87379687-CT-TA c.2296_2297delinsTA p.S766Y Missense 14/16 - 2
10-87379690-A-T c.2294T>A p.I765N Missense 14/16 - 2
10-87379696-T-G c.2288A>C p.N763T Missense 14/16 - 1
10-87379698-G-A c.2286C>T p.G762= Synonymous 14/16 - 3
10-87379698-G-C c.2286C>G p.G762= Synonymous 14/16 - 1
10-87379698-G-T c.2286C>A p.G762= Synonymous 14/16 - 1
10-87379700-C-T c.2284G>A p.G762S Missense 14/16 - 3
10-87379701-G-A c.2283C>T p.I761= Synonymous 14/16 - 1
10-87379712-C-T c.2272G>A p.V758M Missense 14/16 - 1
10-87379713-C-A c.2271G>T p.S757= Synonymous 14/16 - 1
10-87379713-C-G c.2271G>C p.S757= Synonymous 14/16 - 1
10-87379713-C-T c.2271G>A p.S757= Synonymous 14/16 - 1
10-87379714-G-A c.2270C>T p.S757L Missense 14/16 - 1
10-87379725-A-G c.2259T>C p.D753= Synonymous 14/16 - 1
10-87379728-C-A c.2256G>T p.T752= Synonymous 14/16 - 1
10-87379728-C-G c.2256G>C p.T752= Synonymous 14/16 - 1
10-87379728-C-T c.2256G>A p.T752= Synonymous 14/16 - 5
10-87379729-G-A c.2255C>T p.T752M Missense 14/16 - 2
10-87379734-G-T c.2250C>A p.A750= Synonymous 14/16 - 2
10-87379738-G-A c.2246C>T p.A749V Missense 14/16 - 2
10-87379739-C-T c.2245G>A p.A749T Missense 14/16 - 3
10-87379740-G-A c.2244C>T p.Y748= Synonymous 14/16 - 1
10-87379741-T-A c.2243A>T p.Y748F Missense 14/16 - 1
10-87379741-T-G c.2243A>C p.Y748S Missense 14/16 - 1
10-87379745-C-T c.2239G>A p.E747K Missense 14/16 - 1
10-87379748-C-A c.2236G>T p.V746L Missense 14/16 - 1
10-87379748-C-G c.2236G>C p.V746L Missense 14/16 - 1
10-87379751-C-A c.2233G>T p.V745L Missense 14/16 - 1
10-87379751-C-T c.2233G>A p.V745M Missense 14/16 - 8
10-87379753-G-A c.2231C>T p.A744V Missense 14/16 - 5
10-87379759-T-A c.2225A>T p.D742V Missense 14/16 - 3
10-87379759-T-C c.2225A>G p.D742G Missense 14/16 - 1
10-87379760-C-T c.2224G>A p.D742N Missense 14/16 - 4
10-87379761-C-T c.2223G>A p.W741* Nonsense 14/16 - 1
10-87379762-C-T c.2222G>A p.W741* Nonsense 14/16 - 1
10-87379764-CA-AT c.2219_2220delinsAT p.L740H Missense 14/16 - 1
10-87379765-AGGAA-TTATG c.2215_2219delinsCATAA p.F739_L740delinsHK MultiAAMissense 14/16 - 1
10-87379771-G-T c.2213C>A p.A738D Missense 14/16 - 1
10-87379772-C-T c.2212G>A p.A738T Missense 14/16 - 3
10-87379773-G-A c.2211C>T p.Y737= Synonymous 14/16 - 2
10-87379775-A-C c.2209T>G p.Y737D Missense 14/16 - 2
10-87379779-C-A c.2205G>T p.G735= Synonymous 14/16 - 2
10-87379779-C-G c.2205G>C p.G735= Synonymous 14/16 - 2
10-87379779-C-T c.2205G>A p.G735= Synonymous 14/16 - 4
10-87379781-C-G c.2203G>C p.G735R Missense 14/16 - 1
10-87379781-C-T c.2203G>A p.G735R Missense 14/16 - 1
10-87379785-C-A c.2199G>T p.K733N Missense 14/16 - 1
10-87379785-C-T c.2199G>A p.K733= Synonymous 14/16 - 2
10-87379811-T-C c.2194-21A>G - IntronicSNV - 13/15 2
10-87379811-T-G c.2194-21A>C - IntronicSNV - 13/15 2
10-87379860-T-C c.2194-70A>G - IntronicSNV - 13/15 1
10-87382173-T-A c.2194-2383A>T - IntronicSNV - 13/15 1
10-87382895-A-C c.2194-3105T>G - IntronicSNV - 13/15 1
10-87391746-A-G c.2194-11956T>C - IntronicSNV - 13/15 1
10-87392329-T-A c.2194-12539A>T - IntronicSNV - 13/15 1
10-87393788-C-A c.2193+13171G>T - IntronicSNV - 13/15 1
10-87393788-C-G c.2193+13171G>C - IntronicSNV - 13/15 1
10-87393788-C-T c.2193+13171G>A - IntronicSNV - 13/15 1
10-87394655-A-G c.2193+12304T>C - IntronicSNV - 13/15 1
10-87394677-A-T c.2193+12282T>A - IntronicSNV - 13/15 1
10-87394698-C-T c.2193+12261G>A - IntronicSNV - 13/15 1
10-87394719-C-T c.2193+12240G>A - IntronicSNV - 13/15 1
10-87394855-G-A c.2193+12104C>T - IntronicSNV - 13/15 1
10-87394865-G-A c.2193+12094C>T - IntronicSNV - 13/15 1
10-87400172-G-A c.2193+6787C>T - IntronicSNV - 13/15 1
10-87402142-G-C c.2193+4817C>G - IntronicSNV - 13/15 1
10-87404930-CT-C c.2193+2028del - IntronicDeletion - 13/15 1
10-87406804-A-T c.2193+155T>A - IntronicSNV - 13/15 1
10-87406820-A-G c.2193+139T>C - IntronicSNV - 13/15 1
10-87406880-G-C c.2193+79C>G - IntronicSNV - 13/15 1
10-87406942-C-T c.2193+17G>A - IntronicSNV - 13/15 1
10-87406962-C-T c.2190G>A p.R730= Synonymous 13/16 - 1
10-87406964-T-G c.2188A>C p.R730= Synonymous 13/16 - 1
10-87406966-A-T c.2186T>A p.I729N Missense 13/16 - 1
10-87406978-G-A c.2174C>T p.P725L Missense 13/16 - 1
10-87406980-A-C c.2172T>G p.S724R Missense 13/16 - 1
10-87406980-A-T c.2172T>A p.S724R Missense 13/16 - 1
10-87406982-T-G c.2170A>C p.S724R Missense 13/16 - 1
10-87406981-C-G c.2171G>C p.S724T Missense 13/16 - 1
10-87406981-CT-AA c.2170_2171delinsTT p.S724F Missense 13/16 - 1
10-87406983-G-A c.2169C>T p.S723= Synonymous 13/16 - 4
10-87406984-GA-AG c.2167_2168delinsCT p.S723L Missense 13/16 - 1
10-87406988-C-A c.2164G>T p.V722L Missense 13/16 - 1
10-87406988-C-G c.2164G>C p.V722L Missense 13/16 - 1
10-87406988-C-T c.2164G>A p.V722M Missense 13/16 - 1
10-87406989-G-A c.2163C>T p.C721= Synonymous 13/16 - 2
10-87406989-G-C c.2163C>G p.C721W Missense 13/16 - 3
10-87406992-G-A c.2160C>T p.N720= Synonymous 13/16 - 1
10-87406997-C-G c.2155G>C p.D719H Missense 13/16 - 1
10-87407006-C-A c.2146G>T p.G716* Nonsense 13/16 - 1
10-87407006-C-T c.2146G>A p.G716R Missense 13/16 - 1
10-87407007-G-A c.2145C>T p.N715= Synonymous 13/16 - 1
10-87407010-C-G c.2142G>C p.K714N Missense 13/16 - 2
10-87407012-T-G c.2140A>C p.K714Q Missense 13/16 - 1
10-87407013-G-A c.2139C>T p.S713= Synonymous 13/16 - 2
10-87407013-G-GT c.2138_2139insA p.S713Rfs*7 Frameshift 13/16 - 1
10-87407014-C-A c.2138G>T p.S713I Missense 13/16 - 1
10-87407021-T-C c.2131A>G p.T711A Missense 13/16 - 1
10-87407023-C-T c.2129G>A p.R710Q Missense 13/16 - 1
10-87407024-G-A c.2128C>T p.R710W Missense 13/16 - 3
10-87407031-T-C c.2121A>G p.E707= Synonymous 13/16 - 1
10-87407033-C-T c.2119G>A p.E707K Missense 13/16 - 1
10-87407034-A-C c.2118T>G p.A706= Synonymous 13/16 - 1
10-87407034-A-G c.2118T>C p.A706= Synonymous 13/16 - 1
10-87407034-A-T c.2118T>A p.A706= Synonymous 13/16 - 1
10-87407035-G-A c.2117C>T p.A706V Missense 13/16 - 1
10-87407041-G-A c.2111C>T p.T704M Missense 13/16 - 3
10-87407043-G-A c.2109C>T p.S703= Synonymous 13/16 - 1
10-87407046-G-C c.2106C>G p.D702E Missense 13/16 - 1
10-87407046-G-T c.2106C>A p.D702E Missense 13/16 - 2
10-87407050-T-C c.2102A>G p.Q701R Missense 13/16 - 1
10-87407054-C-T c.2098G>A p.E700K Missense 13/16 - 3
10-87407061-G-C c.2091C>G p.N697K Missense 13/16 - 1
10-87407061-G-T c.2091C>A p.N697K Missense 13/16 - 1
10-87407064-G-A c.2088C>T p.T696= Synonymous 13/16 - 1
10-87407070-C-A c.2082G>T p.K694N Missense 13/16 - 2
10-87407070-C-G c.2082G>C p.K694N Missense 13/16 - 1
10-87407072-T-C c.2080A>G p.K694E Missense 13/16 - 3
10-87407073-G-T c.2079C>A p.A693= Synonymous 13/16 - 1
10-87407077-C-A c.2075G>T p.R692L Missense 13/16 - 3
10-87407077-C-T c.2075G>A p.R692Q Missense 13/16 - 9
10-87407076-T-A c.2076A>T p.R692= Synonymous 13/16 - 1
10-87407076-T-C c.2076A>G p.R692= Synonymous 13/16 - 1
10-87407076-T-G c.2076A>C p.R692= Synonymous 13/16 - 1
10-87407078-G-A c.2074C>T p.R692* Nonsense 13/16 - 3
10-87407078-G-T c.2074C>A p.R692= Synonymous 13/16 - 3
10-87407079-G-A c.2073C>T p.F691= Synonymous 13/16 - 1
10-87407081-A-T c.2071T>A p.F691I Missense 13/16 - 1
10-87407082-G-C c.2070C>G p.Y690* Nonsense 13/16 - 2
10-87407082-G-T c.2070C>A p.Y690* Nonsense 13/16 - 3
10-87407086-T-C c.2066A>G p.E689G Missense 13/16 - 1
10-87407088-A-G c.2064T>C p.Y688= Synonymous 13/16 - 2
10-87407092-A-G c.2060T>C p.V687A Missense 13/16 - 1
10-87407096-C-T c.2056G>A p.A686T Missense 13/16 - 3
10-87407098-GA-AT c.2053_2054delinsAT p.S685I Missense 13/16 - 1
10-87407102-C-T c.2050G>A p.D684N Missense 13/16 - 1
10-87407104-C-A c.2048G>T p.R683L Missense 13/16 - 4
10-87407104-C-T c.2048G>A p.R683Q Missense 13/16 - 3
10-87407105-G-A c.2047C>T p.R683W Missense 13/16 - 1
10-87407104-CG-C c.2047del p.R683Gfs*69 Frameshift 13/16 - 1
10-87407106-G-A c.2046C>T p.V682= Synonymous 13/16 - 1
10-87407106-G-C c.2046C>G p.V682= Synonymous 13/16 - 1
10-87407106-G-T c.2046C>A p.V682= Synonymous 13/16 - 1
10-87407108-C-A c.2044G>T p.V682F Missense 13/16 - 1
10-87407113-C-A c.2039G>T p.G680V Missense 13/16 - 1
10-87407113-C-T c.2039G>A p.G680D Missense 13/16 - 3
10-87407119-G-A c.2033C>T p.S678F Missense 13/16 - 4
10-87407119-G-T c.2033C>A p.S678Y Missense 13/16 - 1
10-87407121-C-A c.2031G>T p.M677I Missense 13/16 - 1
10-87407121-C-G c.2031G>C p.M677I Missense 13/16 - 1
10-87407121-C-T c.2031G>A p.M677I Missense 13/16 - 1
10-87407126-C-CA c.2025_2026insT p.E676* Nonsense 13/16 - 2
10-87407132-G-GT c.2019dup p.Q674Tfs*16 Frameshift 13/16 - 1
10-87407137-G-A c.2015C>T p.S672F Missense 13/16 - 3
10-87407143-T-G c.2009A>C p.D670A Missense 13/16 - 3
10-87407147-G-T c.2005C>A p.Q669K Missense 13/16 - 1
10-87407141-GGTCCTGGAAA-G c.2001_2010del p.F668Cfs*81 Frameshift 13/16 12/15 1
10-87407148-G-A c.2004C>T p.F668= Synonymous 13/16 - 2
10-87407150-A-T c.2002T>A p.F668I Missense 13/16 - 2
10-87407163-C-A c.1998-9G>T - IntronicSNV - 12/15 4
10-87407163-C-G c.1998-9G>C - IntronicSNV - 12/15 4
10-87409118-C-A c.1998-1964G>T - IntronicSNV - 12/15 1
10-87409118-C-T c.1998-1964G>A - IntronicSNV - 12/15 1
10-87409700-C-A c.1998-2546G>T - IntronicSNV - 12/15 1
10-87409700-C-G c.1998-2546G>C - IntronicSNV - 12/15 1
10-87410622-T-C c.1998-3468A>G - IntronicSNV - 12/15 1
10-87410904-A-G c.1998-3750T>C - IntronicSNV - 12/15 29
10-87418456-A-G c.1998-11302T>C - IntronicSNV - 12/15 1
10-87425501-G-A c.1998-18347C>T - IntronicSNV - 12/15 1
10-87425551-C-G c.1998-18397G>C - IntronicSNV - 12/15 1
10-87425551-C-T c.1998-18397G>A - IntronicSNV - 12/15 1
10-87428702-G-GA c.1998-21549dup - IntronicInsertion - 12/15 1
10-87439799-C-A c.1998-32645G>T - IntronicSNV - 12/15 1
10-87439799-C-T c.1998-32645G>A - IntronicSNV - 12/15 1
10-87452177-G-A c.1997+30583C>T - IntronicSNV - 12/15 1
10-87460057-G-C c.1997+22703C>G - IntronicSNV - 12/15 1
10-87461138-GA-G c.1997+21621del - IntronicDeletion - 12/15 1
10-87462539-G-T c.1997+20221C>A - IntronicSNV - 12/15 1
10-87467885-A-C c.1997+14875T>G - IntronicSNV - 12/15 1
10-87468015-G-A c.1997+14745C>T - IntronicSNV - 12/15 1
10-87471851-C-T c.1997+10909G>A - IntronicSNV - 12/15 1
10-87474170-T-A c.1997+8590A>T - IntronicSNV - 12/15 1
10-87475812-C-T c.1997+6948G>A - IntronicSNV - 12/15 1
10-87477077-C-CA c.1997+5682dup - IntronicInsertion - 12/15 1
10-87479541-A-T c.1997+3219T>A - IntronicSNV - 12/15 1
10-87480439-A-C c.1997+2321T>G - IntronicSNV - 12/15 1
10-87480824-T-C c.1997+1936A>G - IntronicSNV - 12/15 1
10-87481149-G-A c.1997+1611C>T - IntronicSNV - 12/15 1
10-87481159-A-C c.1997+1601T>G - IntronicSNV - 12/15 1
10-87481159-A-G c.1997+1601T>C - IntronicSNV - 12/15 1
10-87481988-G-A c.1997+772C>T - IntronicSNV - 12/15 1
10-87482345-C-T c.1997+415G>A - IntronicSNV - 12/15 1
10-87482654-G-T c.1997+106C>A - IntronicSNV - 12/15 1
10-87482766-G-T c.1991C>A p.P664H Missense 12/16 - 2
10-87482767-G-A c.1990C>T p.P664S Missense 12/16 - 1
10-87482767-G-T c.1990C>A p.P664T Missense 12/16 - 1
10-87482771-G-T c.1986C>A p.D662E Missense 12/16 - 2
10-87482773-C-T c.1984G>A p.D662N Missense 12/16 - 4
10-87482774-C-A c.1983G>T p.M661I Missense 12/16 - 2
10-87482774-C-G c.1983G>C p.M661I Missense 12/16 - 2
10-87482774-C-T c.1983G>A p.M661I Missense 12/16 - 6
10-87482777-CCT-ATG c.1978_1980delinsCAT p.R660H Missense 12/16 - 1
10-87482777-C-G c.1980G>C p.R660S Missense 12/16 - 1
10-87482777-C-T c.1980G>A p.R660= Synonymous 12/16 - 1
10-87482780-G-A c.1977C>T p.S659= Synonymous 12/16 - 1
10-87482780-G-C c.1977C>G p.S659= Synonymous 12/16 - 1
10-87482780-G-T c.1977C>A p.S659= Synonymous 12/16 - 1
10-87482782-A-C c.1975T>G p.S659A Missense 12/16 - 1
10-87482790-A-T c.1967T>A p.L656H Missense 12/16 - 1
10-87482791-G-A c.1966C>T p.L656F Missense 12/16 - 1
10-87482792-G-A c.1965C>T p.F655= Synonymous 12/16 - 1
10-87482793-AA-GC c.1963_1964delinsGC p.F655A Missense 12/16 - 1
10-87482799-G-A c.1958C>T p.A653V Missense 12/16 - 2
10-87482799-G-T c.1958C>A p.A653D Missense 12/16 - 2
10-87482800-C-A c.1957G>T p.A653S Missense 12/16 - 1
10-87482803-G-A c.1954C>T p.L652F Missense 12/16 - 1
10-87482805-T-C c.1952A>G p.N651S Missense 12/16 - 2
10-87482806-T-G c.1951A>C p.N651H Missense 12/16 - 2
10-87482808-G-T c.1949C>A p.A650D Missense 12/16 - 3
10-87482809-C-A c.1948G>T p.A650S Missense 12/16 - 1
10-87482809-C-T c.1948G>A p.A650T Missense 12/16 - 2
10-87482810-T-C c.1947A>G p.T649= Synonymous 12/16 - 1
10-87482813-G-A c.1944C>T p.Y648= Synonymous 12/16 - 1
10-87482819-G-A c.1938C>T p.S646= Synonymous 12/16 - 1
10-87482819-G-C c.1938C>G p.S646= Synonymous 12/16 - 1
10-87482819-G-T c.1938C>A p.S646= Synonymous 12/16 - 1
10-87482826-A-G c.1931T>C p.V644A Missense 12/16 - 2
10-87482843-C-A c.1914G>T p.W638C Missense 12/16 - 1
10-87482843-C-G c.1914G>C p.W638C Missense 12/16 - 1
10-87482846-C-A c.1911G>T p.W637C Missense 12/16 - 1
10-87482852-G-A c.1905C>T p.G635= Synonymous 12/16 - 1
10-87482852-G-T c.1905C>A p.G635= Synonymous 12/16 - 1
10-87482854-C-A c.1903G>T p.G635C Missense 12/16 - 1
10-87482858-CAC-GAT c.1897_1899delinsATC p.V633I Missense 12/16 - 1
10-87482860-C-T c.1897G>A p.V633M Missense 12/16 - 7
10-87482861-G-A c.1896C>T p.I632= Synonymous 12/16 - 3
10-87482865-C-T c.1892G>A p.R631H Missense 12/16 - 8
10-87482866-G-A c.1891C>T p.R631C Missense 12/16 - 7
10-87482866-G-T c.1891C>A p.R631S Missense 12/16 - 3
10-87482868-A-G c.1889T>C p.M630T Missense 12/16 - 1
10-87482872-C-A c.1885G>T p.A629S Missense 12/16 - 1
10-87482873-C-A c.1884G>T p.M628I Missense 12/16 - 1
10-87482873-C-T c.1884G>A p.M628I Missense 12/16 - 1
10-87482876-G-A c.1881C>T p.S627= Synonymous 12/16 - 2
10-87482876-G-C c.1881C>G p.S627= Synonymous 12/16 - 1
10-87482876-G-T c.1881C>A p.S627= Synonymous 12/16 - 1
10-87482877-G-C c.1880C>G p.S627C Missense 12/16 - 1
10-87482879-G-A c.1878C>T p.N626= Synonymous 12/16 - 1
10-87482879-G-C c.1878C>G p.N626K Missense 12/16 - 1
10-87482879-G-T c.1878C>A p.N626K Missense 12/16 - 1
10-87482884-C-T c.1873G>A p.V625M Missense 12/16 - 2
10-87482886-G-A c.1871C>T p.S624F Missense 12/16 - 1
10-87482887-A-C c.1870T>G p.S624A Missense 12/16 - 1
10-87482888-A-C c.1869T>G p.S623= Synonymous 12/16 - 1
10-87482888-A-G c.1869T>C p.S623= Synonymous 12/16 - 1
10-87482888-A-T c.1869T>A p.S623= Synonymous 12/16 - 1
10-87482889-GA-TT c.1867_1868delinsAA p.S623N Missense 12/16 - 1
10-87482891-T-A c.1866A>T p.E622D Missense 12/16 - 1
10-87482891-T-G c.1866A>C p.E622D Missense 12/16 - 1
10-87482893-C-T c.1864G>A p.E622K Missense 12/16 - 10
10-87482894-G-A c.1863C>T p.G621= Synonymous 12/16 - 4
10-87482894-G-C c.1863C>G p.G621= Synonymous 12/16 - 2
10-87482894-G-T c.1863C>A p.G621= Synonymous 12/16 - 2
10-87483146-G-A c.1859-248C>T - IntronicSNV - 11/15 1
10-87484058-G-C c.1858+51C>G - IntronicSNV - 11/15 1
10-87484108-C-A c.1858+1G>T - IntronicSNV - 11/15 1
10-87484117-AC-CT c.1849_1850delinsAG p.V617R Missense 11/16 - 2
10-87484118-C-T c.1849G>A p.V617I Missense 11/16 - 2
10-87484119-G-A c.1848C>T p.F616= Synonymous 11/16 - 1
10-87484135-A-G c.1832T>C p.I611T Missense 11/16 - 1
10-87484136-T-C c.1831A>G p.I611V Missense 11/16 - 1
10-87484140-G-A c.1827C>T p.I609= Synonymous 11/16 - 1
10-87484144-G-A c.1823C>T p.A608V Missense 11/16 - 1
10-87484144-G-T c.1823C>A p.A608D Missense 11/16 - 1
10-87484145-C-T c.1822G>A p.A608T Missense 11/16 - 6
10-87484146-G-A c.1821C>T p.S607= Synonymous 11/16 - 1
10-87484147-C-T c.1820G>A p.S607N Missense 11/16 - 2
10-87484167-TG-AT c.1799_1800delinsAT p.S600Y Missense 11/16 - 1
10-87484168-G-A c.1799C>T p.S600L Missense 11/16 - 1
10-87484168-G-C c.1799C>G p.S600* Nonsense 11/16 - 1
10-87484170-C-A c.1797G>T p.P599= Synonymous 11/16 - 1
10-87484170-C-G c.1797G>C p.P599= Synonymous 11/16 - 1
10-87484170-C-T c.1797G>A p.P599= Synonymous 11/16 - 1
10-87484178-G-A c.1789C>T p.P597S Missense 11/16 - 2
10-87484179-C-T c.1788G>A p.Q596= Synonymous 11/16 - 3
10-87484181-G-A c.1786C>T p.Q596* Nonsense 11/16 - 3
10-87484184-C-A c.1783G>T p.A595S Missense 11/16 - 2
10-87484191-C-A c.1776G>T p.Q592H Missense 11/16 - 1
10-87484191-C-G c.1776G>C p.Q592H Missense 11/16 - 1
10-87484195-G-A c.1772C>T p.A591V Missense 11/16 - 1
10-87484198-C-A c.1769G>T p.R590M Missense 11/16 - 1
10-87484200-C-A c.1767G>T p.V589= Synonymous 11/16 - 1
10-87484200-CAC-AAA c.1765_1767delinsTTT p.V589F Missense 11/16 - 1
10-87484199-TCA-T c.1766_1767del p.V589Efs*100 Frameshift 11/16 - 1
10-87484203-A-C c.1764T>G p.A588= Synonymous 11/16 - 1
10-87484203-A-G c.1764T>C p.A588= Synonymous 11/16 - 1
10-87484203-A-T c.1764T>A p.A588= Synonymous 11/16 - 1
10-87484204-G-A c.1763C>T p.A588V Missense 11/16 - 1
10-87484204-G-T c.1763C>A p.A588D Missense 11/16 - 2
10-87484205-C-T c.1762G>A p.A588T Missense 11/16 - 1
10-87484209-T-C c.1758A>G p.I586M Missense 11/16 - 1
10-87484213-C-T c.1754G>A p.R585K Missense 11/16 - 4
10-87484214-T-A c.1753A>T p.R585W Missense 11/16 - 1
10-87484223-C-T c.1744G>A p.V582M Missense 11/16 - 1
10-87484228-A-G c.1739T>C p.I580T Missense 11/16 - 1
10-87484232-G-T c.1735C>A p.L579M Missense 11/16 - 1
10-87484233-C-A c.1734G>T p.V578= Synonymous 11/16 - 1
10-87484233-C-G c.1734G>C p.V578= Synonymous 11/16 - 1
10-87484233-C-T c.1734G>A p.V578= Synonymous 11/16 - 1
10-87484240-A-G c.1727T>C p.V576A Missense 11/16 - 1
10-87484246-G-T c.1721C>A p.P574H Missense 11/16 - 1
10-87484247-G-T c.1720C>A p.P574T Missense 11/16 - 2
10-87484245-A-AG c.1721dup p.V575Cfs*115 Frameshift 11/16 - 1
10-87484261-A-G c.1706T>C p.I569T Missense 11/16 - 1
10-87484268-C-T c.1699G>A p.A567T Missense 11/16 - 3
10-87484270-C-T c.1697G>A p.W566* Nonsense 11/16 - 2
10-87484276-G-A c.1691C>T p.A564V Missense 11/16 - 1
10-87484277-C-A c.1690G>T p.A564S Missense 11/16 - 2
10-87484277-C-T c.1690G>A p.A564T Missense 11/16 - 4
10-87484278-G-A c.1689C>T p.F563= Synonymous 11/16 - 7
10-87484280-A-C c.1687T>G p.F563V Missense 11/16 - 2
10-87484282-T-A c.1685A>T p.D562V Missense 11/16 - 1
10-87484283-C-T c.1684G>A p.D562N Missense 11/16 - 1
10-87484287-T-A c.1680A>T p.P560= Synonymous 11/16 - 1
10-87484287-T-C c.1680A>G p.P560= Synonymous 11/16 - 2
10-87484287-T-G c.1680A>C p.P560= Synonymous 11/16 - 2
10-87484288-G-A c.1679C>T p.P560L Missense 11/16 - 2
10-87484291-G-C c.1676C>G p.A559G Missense 11/16 - 1
10-87484291-G-T c.1676C>A p.A559D Missense 11/16 - 1
10-87484294-A-C c.1673T>G p.F558C Missense 11/16 - 1
10-87484299-G-A c.1668C>T p.S556= Synonymous 11/16 - 2
10-87484299-G-C c.1668C>G p.S556= Synonymous 11/16 - 1
10-87484299-G-T c.1668C>A p.S556= Synonymous 11/16 - 1
10-87484300-G-A c.1667C>T p.S556F Missense 11/16 - 4
10-87484300-G-T c.1667C>A p.S556Y Missense 11/16 - 2
10-87484302-G-A c.1665C>T p.F555= Synonymous 11/16 - 1
10-87484307-T-A c.1660A>T p.I554F Missense 11/16 - 1
10-87484307-T-C c.1660A>G p.I554V Missense 11/16 - 1
10-87484311-G-A c.1656C>T p.I552= Synonymous 11/16 - 3
10-87484315-T-G c.1652A>C p.K551T Missense 11/16 - 1
10-87484317-C-A c.1650G>T p.E550D Missense 11/16 - 1
10-87484317-C-G c.1650G>C p.E550D Missense 11/16 - 1
10-87484317-C-T c.1650G>A p.E550= Synonymous 11/16 - 1
10-87484318-T-C c.1649A>G p.E550G Missense 11/16 - 1
10-87484319-C-T c.1648G>A p.E550K Missense 11/16 - 7
10-87484321-T-A c.1646A>T p.E549V Missense 11/16 - 1
10-87484322-C-A c.1645G>T p.E549* Nonsense 11/16 - 1
10-87484323-G-A c.1644C>T p.P548= Synonymous 11/16 - 1
10-87484325-G-A c.1642C>T p.P548S Missense 11/16 - 2
10-87484326-C-A c.1641G>T p.K547N Missense 11/16 - 2
10-87484326-C-G c.1641G>C p.K547N Missense 11/16 - 1
10-87484327-T-G c.1640A>C p.K547T Missense 11/16 - 1
10-87484330-T-C c.1637A>G p.K546R Missense 11/16 - 5
10-87484329-CTTAA-C c.1634_1637del p.I545Rfs*34 Frameshift 11/16 - 1
10-87484336-A-G c.1631T>C p.L544P Missense 11/16 - 1
10-87484336-A-T c.1631T>A p.L544Q Missense 11/16 - 1
10-87484337-G-T c.1630C>A p.L544I Missense 11/16 - 1
10-87484338-A-C c.1629T>G p.I543M Missense 11/16 - 1
10-87484341-C-A c.1626G>T p.G542= Synonymous 11/16 - 1
10-87484341-C-G c.1626G>C p.G542= Synonymous 11/16 - 1
10-87484341-C-T c.1626G>A p.G542= Synonymous 11/16 - 2
10-87484342-C-A c.1625G>T p.G542V Missense 11/16 - 1
10-87484343-C-G c.1624G>C p.G542R Missense 11/16 - 1
10-87484343-C-T c.1624G>A p.G542R Missense 11/16 - 2
10-87484348-G-A c.1619C>T p.S540L Missense 11/16 - 2
10-87484356-C-A c.1611G>T p.M537I Missense 11/16 - 2
10-87484356-C-G c.1611G>C p.M537I Missense 11/16 - 2
10-87484356-C-T c.1611G>A p.M537I Missense 11/16 - 2
10-87484357-A-C c.1610T>G p.M537R Missense 11/16 - 1
10-87484357-A-G c.1610T>C p.M537T Missense 11/16 - 2
10-87484358-T-C c.1609A>G p.M537V Missense 11/16 - 1
10-87484360-T-C c.1607A>G p.Y536C Missense 11/16 - 2
10-87484363-C-T c.1604G>A p.R535Q Missense 11/16 - 1
10-87484362-C-A c.1605G>T p.R535= Synonymous 11/16 - 2
10-87484362-C-G c.1605G>C p.R535= Synonymous 11/16 - 2
10-87484362-C-T c.1605G>A p.R535= Synonymous 11/16 - 3
10-87484364-G-A c.1603C>T p.R535W Missense 11/16 - 3
10-87484364-G-T c.1603C>A p.R535= Synonymous 11/16 - 2
10-87484365-C-T c.1602G>A p.K534= Synonymous 11/16 - 1
10-87484366-T-C c.1601A>G p.K534R Missense 11/16 - 1
10-87484371-G-A c.1596C>T p.F532= Synonymous 11/16 - 1
10-87484373-A-C c.1594T>G p.F532V Missense 11/16 - 1
10-87484376-C-G c.1591G>C p.D531H Missense 11/16 - 1
10-87484376-C-T c.1591G>A p.D531N Missense 11/16 - 1
10-87484377-C-A c.1590G>T p.V530= Synonymous 11/16 - 1
10-87484377-CAC-GAT c.1588_1590delinsATC p.V530I Missense 11/16 - 1
10-87484377-C-G c.1590G>C p.V530= Synonymous 11/16 - 1
10-87484377-C-T c.1590G>A p.V530= Synonymous 11/16 - 1
10-87484382-C-A c.1585G>T p.V529F Missense 11/16 - 2
10-87484382-C-T c.1585G>A p.V529I Missense 11/16 - 23
10-87484383-GCT-TCA c.1582_1584delinsTGA p.S528* Nonsense 11/16 - 1
10-87484388-C-T c.1579G>A p.E527K Missense 11/16 - 1
10-87484390-C-T c.1577G>A p.R526K Missense 11/16 - 1
10-87484392-C-T c.1575G>A p.E525= Synonymous 11/16 - 1
10-87484394-C-T c.1573G>A p.E525K Missense 11/16 - 1
10-87484397-G-T c.1570C>A p.P524T Missense 11/16 - 1
10-87484405-G-A c.1562C>T p.T521I Missense 11/16 - 1
10-87484405-GT-CA c.1561_1562delinsTG p.T521C Missense 11/16 - 1
10-87484407-G-A c.1560C>T p.I520= Synonymous 11/16 - 1
10-87484407-G-T c.1560C>A p.I520= Synonymous 11/16 - 1
10-87484410-G-A c.1557C>T p.A519= Synonymous 11/16 - 1
10-87484416-G-A c.1551C>T p.I517= Synonymous 11/16 - 1
10-87484416-G-T c.1551C>A p.I517= Synonymous 11/16 - 1
10-87484419-G-A c.1548C>T p.A516= Synonymous 11/16 - 1
10-87484419-G-C c.1548C>G p.A516= Synonymous 11/16 - 1
10-87484419-G-T c.1548C>A p.A516= Synonymous 11/16 - 1
10-87484421-C-A c.1546G>T p.A516S Missense 11/16 - 1
10-87484421-C-T c.1546G>A p.A516T Missense 11/16 - 1
10-87484428-T-A c.1539A>T p.A513= Synonymous 11/16 - 1
10-87484428-T-C c.1539A>G p.A513= Synonymous 11/16 - 1
10-87484428-T-G c.1539A>C p.A513= Synonymous 11/16 - 1
10-87484429-G-A c.1538C>T p.A513V Missense 11/16 - 1
10-87484429-G-T c.1538C>A p.A513E Missense 11/16 - 3
10-87484430-C-G c.1537G>C p.A513P Missense 11/16 - 1
10-87484430-C-T c.1537G>A p.A513T Missense 11/16 - 1
10-87484432-C-T c.1535G>A p.R512K Missense 11/16 - 3
10-87484492-C-A c.1534-59G>T - IntronicSNV - 10/15 2
10-87484492-C-G c.1534-59G>C - IntronicSNV - 10/15 2
10-87486063-G-T c.1533+1549C>A - IntronicSNV - 10/15 1
10-87486234-A-G c.1533+1378T>C - IntronicSNV - 10/15 1
10-87486716-A-C c.1533+896T>G - IntronicSNV - 10/15 1
10-87487603-G-A c.1533+9C>T - IntronicSNV - 10/15 2
10-87487603-G-C c.1533+9C>G - IntronicSNV - 10/15 4
10-87487612-C-A c.1533G>T p.K511N Missense 10/16 - 1
10-87487612-C-G c.1533G>C p.K511N Missense 10/16 - 1
10-87487618-G-A c.1527C>T p.I509= Synonymous 10/16 - 1
10-87487618-G-T c.1527C>A p.I509= Synonymous 10/16 - 1
10-87487621-G-A c.1524C>T p.L508= Synonymous 10/16 - 1
10-87487625-CT-C c.1520del p.E507Gfs*38 Frameshift 10/16 - 2
10-87487625-T-G c.1520A>C p.E507A Missense 10/16 - 1
10-87487626-C-A c.1519G>T p.E507* Nonsense 10/16 - 1
10-87487627-C-A c.1518G>T p.G506= Synonymous 10/16 - 1
10-87487627-C-G c.1518G>C p.G506= Synonymous 10/16 - 1
10-87487627-C-T c.1518G>A p.G506= Synonymous 10/16 - 1
10-87487628-C-T c.1517G>A p.G506E Missense 10/16 - 6
10-87487629-C-G c.1516G>C p.G506R Missense 10/16 - 1
10-87487629-C-T c.1516G>A p.G506R Missense 10/16 - 1
10-87487630-G-C c.1515C>G p.I505M Missense 10/16 - 1
10-87487630-G-T c.1515C>A p.I505= Synonymous 10/16 - 1
10-87487636-C-A c.1509G>T p.G503= Synonymous 10/16 - 3
10-87487636-C-G c.1509G>C p.G503= Synonymous 10/16 - 1
10-87487636-C-T c.1509G>A p.G503= Synonymous 10/16 - 3
10-87487637-C-T c.1508G>A p.G503E Missense 10/16 - 3
10-87487638-C-A c.1507G>T p.G503W Missense 10/16 - 2
10-87487638-C-T c.1507G>A p.G503R Missense 10/16 - 7
10-87487639-G-A c.1506C>T p.N502= Synonymous 10/16 - 5
10-87487642-C-T c.1503G>A p.W501* Nonsense 10/16 - 5
10-87487646-G-A c.1499C>T p.S500F Missense 10/16 - 1
10-87487651-G-A c.1494C>T p.N498= Synonymous 10/16 - 3
10-87487652-T-G c.1493A>C p.N498T Missense 10/16 - 1
10-87487658-A-T c.1487T>A p.L496H Missense 10/16 - 1
10-87487666-A-C c.1479T>G p.G493= Synonymous 10/16 - 1
10-87487666-A-G c.1479T>C p.G493= Synonymous 10/16 - 1
10-87487666-A-T c.1479T>A p.G493= Synonymous 10/16 - 1
10-87487667-C-T c.1478G>A p.G493D Missense 10/16 - 1
10-87487668-C-G c.1477G>C p.G493R Missense 10/16 - 1
10-87487668-C-T c.1477G>A p.G493S Missense 10/16 - 2
10-87487669-G-A c.1476C>T p.Y492= Synonymous 10/16 - 2
10-87487673-C-T c.1472G>A p.R491K Missense 10/16 - 1
10-87487673-CT-GG c.1471_1472delinsCC p.R491P Missense 10/16 - 1
10-87487675-G-A c.1470C>T p.G490= Synonymous 10/16 - 1
10-87487675-G-C c.1470C>G p.G490= Synonymous 10/16 - 1
10-87487675-G-T c.1470C>A p.G490= Synonymous 10/16 - 1
10-87487680-C-T c.1465G>A p.D489N Missense 10/16 - 4
10-87487682-G-A c.1463C>T p.P488L Missense 10/16 - 1
10-87487682-G-T c.1463C>A p.P488H Missense 10/16 - 1
10-87487683-G-A c.1462C>T p.P488S Missense 10/16 - 2
10-87487683-G-T c.1462C>A p.P488T Missense 10/16 - 4
10-87487684-G-A c.1461C>T p.A487= Synonymous 10/16 - 2
10-87487685-G-A c.1460C>T p.A487V Missense 10/16 - 1
10-87487686-C-T c.1459G>A p.A487T Missense 10/16 - 1
10-87487689-G-A c.1456C>T p.Q486* Nonsense 10/16 - 1
10-87487690-G-A c.1455C>T p.Y485= Synonymous 10/16 - 3
10-87487692-A-G c.1453T>C p.Y485H Missense 10/16 - 1
10-87487698-C-T c.1447G>A p.E483K Missense 10/16 - 4
10-87487703-T-G c.1442A>C p.K481T Missense 10/16 - 1
10-87487705-A-G c.1440T>C p.F480= Synonymous 10/16 - 1
10-87487708-G-A c.1437C>T p.G479= Synonymous 10/16 - 3
10-87487709-C-A c.1436G>T p.G479V Missense 10/16 - 1
10-87487710-C-A c.1435G>T p.G479C Missense 10/16 - 2
10-87487712-A-G c.1433T>C p.L478P Missense 10/16 - 1
10-87487712-A-T c.1433T>A p.L478Q Missense 10/16 - 2
10-87487714-A-C c.1431T>G p.A477= Synonymous 10/16 - 1
10-87487714-A-G c.1431T>C p.A477= Synonymous 10/16 - 1
10-87487714-A-T c.1431T>A p.A477= Synonymous 10/16 - 1
10-87487716-C-T c.1429G>A p.A477T Missense 10/16 - 1
10-87487717-C-A c.1428G>T p.K476N Missense 10/16 - 4
10-87487719-T-G c.1426A>C p.K476Q Missense 10/16 - 3
10-87487722-C-G c.1423G>C p.A475P Missense 10/16 - 1
10-87487722-C-T c.1423G>A p.A475T Missense 10/16 - 3
10-87487727-G-A c.1418C>T p.A473V Missense 10/16 - 1
10-87487728-C-A c.1417G>T p.A473S Missense 10/16 - 1
10-87487731-C-A c.1414G>T p.D472Y Missense 10/16 - 1
10-87487731-C-T c.1414G>A p.D472N Missense 10/16 - 1
10-87487732-C-A c.1413G>T p.L471= Synonymous 10/16 - 2
10-87487732-C-G c.1413G>C p.L471= Synonymous 10/16 - 1
10-87487732-C-T c.1413G>A p.L471= Synonymous 10/16 - 1
10-87487734-G-A c.1411C>T p.L471= Synonymous 10/16 - 1
10-87487739-T-C c.1406A>G p.D469G Missense 10/16 - 3
10-87487740-C-A c.1405G>T p.D469Y Missense 10/16 - 1
10-87487747-G-A c.1398C>T p.F466= Synonymous 10/16 - 2
10-87487750-CCC-GCT c.1393_1395delinsAGC p.G465S Missense 10/16 - 1
10-87487751-C-T c.1394G>A p.G465E Missense 10/16 - 1
10-87487752-C-A c.1393G>T p.G465W Missense 10/16 - 2
10-87487752-C-G c.1393G>C p.G465R Missense 10/16 - 1
10-87487752-C-T c.1393G>A p.G465R Missense 10/16 - 3
10-87487759-GC-TT c.1385_1386delinsAA p.R462Q Missense 10/16 - 1
10-87487760-C-A c.1385G>T p.R462L Missense 10/16 - 1
10-87487760-C-T c.1385G>A p.R462H Missense 10/16 - 5
10-87487762-C-T c.1383G>A p.K461= Synonymous 10/16 - 1
10-87487764-T-A c.1381A>T p.K461* Nonsense 10/16 - 1
10-87487765-G-A c.1380C>T p.P460= Synonymous 10/16 - 1
10-87487767-G-A c.1378C>T p.P460S Missense 10/16 - 2
10-87487768-C-A c.1377G>T p.Q459H Missense 10/16 - 3
10-87487768-C-G c.1377G>C p.Q459H Missense 10/16 - 2
10-87487768-C-T c.1377G>A p.Q459= Synonymous 10/16 - 2
10-87487770-G-T c.1375C>A p.Q459K Missense 10/16 - 4
10-87487777-G-A c.1368C>T p.I456= Synonymous 10/16 - 1
10-87487785-C-G c.1360G>C p.E454Q Missense 10/16 - 3
10-87487785-C-T c.1360G>A p.E454K Missense 10/16 - 1
10-87487787-G-T c.1358C>A p.A453D Missense 10/16 - 1
10-87487797-C-A c.1348G>T p.V450L Missense 10/16 - 1
10-87487797-C-G c.1348G>C p.V450L Missense 10/16 - 1
10-87487797-C-T c.1348G>A p.V450M Missense 10/16 - 1
10-87487798-G-A c.1347C>T p.F449= Synonymous 10/16 - 1
10-87487804-C-A c.1341G>T p.E447D Missense 10/16 - 1
10-87487804-C-T c.1341G>A p.E447= Synonymous 10/16 - 1
10-87487809-C-G c.1336G>C p.E446Q Missense 10/16 - 3
10-87487809-C-T c.1336G>A p.E446K Missense 10/16 - 4
10-87487930-C-G c.1336-121G>C - IntronicSNV - 9/15 1
10-87489238-A-G c.1335+32T>C - IntronicSNV - 9/15 2
10-87489242-C-A c.1335+28G>T - IntronicSNV - 9/15 3
10-87489242-C-T c.1335+28G>A - IntronicSNV - 9/15 2
10-87489247-C-A c.1335+23G>T - IntronicSNV - 9/15 1
10-87489265-C-A c.1335+5G>T - IntronicSNV - 9/15 1
10-87489273-G-A c.1332C>T p.V444= Synonymous 9/16 - 1
10-87489273-G-C c.1332C>G p.V444= Synonymous 9/16 - 1
10-87489273-G-T c.1332C>A p.V444= Synonymous 9/16 - 1
10-87489277-G-A c.1328C>T p.T443I Missense 9/16 - 3
10-87489288-A-C c.1317T>G p.L439= Synonymous 9/16 - 2
10-87489288-A-G c.1317T>C p.L439= Synonymous 9/16 - 6
10-87489288-A-T c.1317T>A p.L439= Synonymous 9/16 - 2
10-87489289-A-C c.1316T>G p.L439R Missense 9/16 - 2
10-87489289-A-G c.1316T>C p.L439P Missense 9/16 - 1
10-87489290-G-T c.1315C>A p.L439I Missense 9/16 - 1
10-87489294-C-T c.1311G>A p.L437= Synonymous 9/16 - 1
10-87489296-A-G c.1309T>C p.L437= Synonymous 9/16 - 1
10-87489297-TC-GT c.1307_1308delinsAC p.G436D Missense 9/16 - 1
10-87489302-G-T c.1303C>A p.Q435K Missense 9/16 - 1
10-87489305-G-A c.1300C>T p.L434F Missense 9/16 - 1
10-87489307-C-T c.1298G>A p.R433H Missense 9/16 - 2
10-87489308-G-A c.1297C>T p.R433C Missense 9/16 - 1
10-87489309-G-A c.1296C>T p.S432= Synonymous 9/16 - 1
10-87489310-C-T c.1295G>A p.S432N Missense 9/16 - 1
10-87489312-GC-CT c.1292_1293delinsAG p.G431E Missense 9/16 - 1
10-87489314-C-T c.1291G>A p.G431S Missense 9/16 - 1
10-87489317-T-C c.1288A>G p.M430V Missense 9/16 - 13
10-87489317-T-G c.1288delinsC p.M430L Missense 9/16 - 1
10-87489318-G-A c.1287C>T p.P429= Synonymous 9/16 - 2
10-87489318-G-C c.1287C>G p.P429= Synonymous 9/16 - 7
10-87489318-G-T c.1287C>A p.P429= Synonymous 9/16 - 6
10-87489321-CCT-ACA c.1282_1284delinsTGT p.R428C Missense 9/16 - 1
10-87489322-C-T c.1283G>A p.R428K Missense 9/16 - 1
10-87489325-T-A c.1280A>T p.E427V Missense 9/16 - 4
10-87489330-C-A c.1275G>T p.L425F Missense 9/16 - 1
10-87489334-CT-AA c.1270_1271delinsTT p.S424F Missense 9/16 - 1
10-87489341-T-C c.1264A>G p.N422D Missense 9/16 - 1
10-87489351-C-A c.1254G>T p.E418D Missense 9/16 - 1
10-87489351-C-T c.1254G>A p.E418= Synonymous 9/16 - 1
10-87489353-C-A c.1252G>T p.E418* Nonsense 9/16 - 2
10-87489353-C-T c.1252G>A p.E418K Missense 9/16 - 2
10-87489356-A-G c.1249T>C p.S417P Missense 9/16 - 2
10-87489359-C-T c.1246G>A p.D416N Missense 9/16 - 1
10-87489361-C-A c.1244G>T p.W415L Missense 9/16 - 1
10-87489362-A-G c.1243T>C p.W415R Missense 9/16 - 2
10-87489362-A-T c.1243T>A p.W415R Missense 9/16 - 1
10-87489366-C-A c.1239G>T p.A413= Synonymous 9/16 - 1
10-87489366-C-G c.1239G>C p.A413= Synonymous 9/16 - 1
10-87489366-C-T c.1239G>A p.A413= Synonymous 9/16 - 4
10-87489367-G-A c.1238C>T p.A413V Missense 9/16 - 1
10-87489368-C-A c.1237G>T p.A413S Missense 9/16 - 1
10-87489415-C-A c.1234-44G>T - IntronicSNV - 8/15 3
10-87489415-C-T c.1234-44G>A - IntronicSNV - 8/15 3
10-87489468-A-G c.1234-97T>C - IntronicSNV - 8/15 1
10-87490850-A-G c.1234-1479T>C - IntronicSNV - 8/15 2
10-87491246-G-A c.1234-1875C>T - IntronicSNV - 8/15 1
10-87497445-A-T c.1234-8074T>A - IntronicSNV - 8/15 1
10-87501953-T-C c.1234-12582A>G - IntronicSNV - 8/15 1
10-87507764-G-A c.1234-18393C>T - IntronicSNV - 8/15 1
10-87534693-G-C c.1234-45322C>G - IntronicSNV - 8/15 1
10-87541576-C-A c.1234-52205G>T - IntronicSNV - 8/15 1
10-87556891-A-T c.1233+57362T>A - IntronicSNV - 8/15 1
10-87559917-CA-C c.1233+54335del - IntronicDeletion - 8/15 1
10-87562423-G-T c.1233+51830C>A - IntronicSNV - 8/15 1
10-87569670-T-G c.1233+44583A>C - IntronicSNV - 8/15 1
10-87576467-C-T c.1233+37786G>A - IntronicSNV - 8/15 1
10-87579780-AAGGAAGGCAGGC-A c.1233+34461_1233+34472del - IntronicDeletion - 8/15 1
10-87580911-TA-T c.1233+33341del - IntronicDeletion - 8/15 1
10-87583186-A-G c.1233+31067T>C - IntronicSNV - 8/15 1
10-87585925-TA-T c.1233+28327del - IntronicDeletion - 8/15 1
10-87588390-A-G c.1233+25863T>C - IntronicSNV - 8/15 1
10-87588389-CA-C c.1233+25863del - IntronicDeletion - 8/15 1
10-87592470-C-T c.1233+21783G>A - IntronicSNV - 8/15 1
10-87593086-G-A c.1233+21167C>T - IntronicSNV - 8/15 1
10-87594700-CA-C c.1233+19552del - IntronicDeletion - 8/15 1
10-87599587-GA-G c.1233+14665del - IntronicDeletion - 8/15 1
10-87602904-C-G c.1233+11349G>C - IntronicSNV - 8/15 1
10-87608460-C-T c.1233+5793G>A - IntronicSNV - 8/15 1
10-87611572-C-A c.1233+2681G>T - IntronicSNV - 8/15 1
10-87611747-G-T c.1233+2506C>A - IntronicSNV - 8/15 1
10-87611943-C-T c.1233+2310G>A - IntronicSNV - 8/15 1
10-87614155-T-C c.1233+98A>G - IntronicSNV - 8/15 1
10-87614257-C-A c.1229G>T p.R410L Missense 8/16 - 1
10-87614257-C-T c.1229G>A p.R410H Missense 8/16 - 3
10-87614258-G-A c.1228C>T p.R410C Missense 8/16 - 3
10-87614258-G-C c.1228C>G p.R410G Missense 8/16 - 1
10-87614258-G-T c.1228C>A p.R410S Missense 8/16 - 2
10-87614260-A-G c.1226T>C p.M409T Missense 8/16 - 1
10-87614268-G-C c.1218C>G p.G406= Synonymous 8/16 - 2
10-87614273-A-C c.1213T>G p.F405V Missense 8/16 - 1
10-87614277-C-A c.1209G>T p.E403D Missense 8/16 - 1
10-87614287-G-T c.1199C>A p.T400N Missense 8/16 - 1
10-87614289-A-C c.1197T>G p.T399= Synonymous 8/16 - 1
10-87614289-A-G c.1197T>C p.T399= Synonymous 8/16 - 1
10-87614289-A-T c.1197T>A p.T399= Synonymous 8/16 - 1
10-87614290-G-A c.1196C>T p.T399I Missense 8/16 - 1
10-87614293-C-A c.1193G>T p.G398V Missense 8/16 - 1
10-87614293-C-G c.1193G>C p.G398A Missense 8/16 - 1
10-87614296-A-C c.1190T>G p.L397R Missense 8/16 - 1
10-87614297-G-A c.1189C>T p.L397F Missense 8/16 - 3
10-87614298-G-A c.1188C>T p.I396= Synonymous 8/16 - 1
10-87614301-T-A c.1185A>T p.E395D Missense 8/16 - 2
10-87614301-TTTC-T c.1183_1185del p.E395del InFrameDeletion 8/16 - 1
10-87614303-C-T c.1183G>A p.E395K Missense 8/16 - 3
10-87614303-C-CAAAA c.1182_1183insTTTT p.E395Ffs*2 Frameshift 8/16 - 1
10-87614310-G-A c.1176C>T p.V392= Synonymous 8/16 - 1
10-87614310-G-C c.1176C>G p.V392= Synonymous 8/16 - 1
10-87614310-G-T c.1176C>A p.V392= Synonymous 8/16 - 1
10-87614311-A-T c.1175T>A p.V392D Missense 8/16 - 3
10-87614313-A-C c.1173T>G p.Y391* Nonsense 8/16 - 2
10-87614313-A-T c.1173T>A p.Y391* Nonsense 8/16 - 3
10-87614316-G-T c.1170C>A p.P390= Synonymous 8/16 - 1
10-87614317-G-A c.1169C>T p.P390L Missense 8/16 - 2
10-87614322-C-A c.1164G>T p.S388= Synonymous 8/16 - 5
10-87614322-C-G c.1164G>C p.S388= Synonymous 8/16 - 5
10-87614322-C-T c.1164G>A p.S388= Synonymous 8/16 - 6
10-87614323-G-A c.1163C>T p.S388L Missense 8/16 - 12
10-87614326-C-A c.1160G>T p.S387I Missense 8/16 - 1
10-87614335-C-T c.1151G>A p.R384Q Missense 8/16 - 1
10-87614336-G-A c.1150C>T p.R384W Missense 8/16 - 5
10-87614340-C-A c.1146G>T p.E382D Missense 8/16 - 1
10-87614342-C-A c.1144G>T p.E382* Nonsense 8/16 - 1
10-87614342-C-G c.1144G>C p.E382Q Missense 8/16 - 1
10-87614342-C-T c.1144G>A p.E382K Missense 8/16 - 1
10-87614343-C-A c.1143G>T p.M381I Missense 8/16 - 1
10-87614343-C-T c.1143G>A p.M381I Missense 8/16 - 1
10-87614349-C-A c.1137G>T p.G379= Synonymous 8/16 - 1
10-87614349-C-G c.1137G>C p.G379= Synonymous 8/16 - 1
10-87614349-C-T c.1137G>A p.G379= Synonymous 8/16 - 1
10-87614350-C-G c.1136G>C p.G379A Missense 8/16 - 2
10-87614357-G-A c.1129C>T p.L377F Missense 8/16 - 4
10-87614358-G-A c.1128C>T p.G376= Synonymous 8/16 - 4
10-87614364-G-C c.1122C>G p.I374M Missense 8/16 - 1
10-87614370-G-A c.1116C>T p.G372= Synonymous 8/16 - 1
10-87614370-G-C c.1116C>G p.G372= Synonymous 8/16 - 1
10-87614370-G-T c.1116C>A p.G372= Synonymous 8/16 - 2
10-87614371-C-A c.1115G>T p.G372V Missense 8/16 - 1
10-87614376-C-A c.1114-4G>T - IntronicSNV - 7/15 1
10-87615767-G-T c.1113+19C>A - IntronicSNV - 7/15 1
10-87615795-G-T c.1104C>A p.T368= Synonymous 7/16 - 1
10-87615796-G-A c.1103C>T p.T368I Missense 7/16 - 1
10-87615801-C-A c.1098G>T p.L366= Synonymous 7/16 - 3
10-87615801-C-G c.1098G>C p.L366= Synonymous 7/16 - 3
10-87615801-C-T c.1098G>A p.L366= Synonymous 7/16 - 3
10-87615803-G-A c.1096C>T p.L366= Synonymous 7/16 - 3
10-87615807-G-A c.1092C>T p.S364= Synonymous 7/16 - 3
10-87615808-G-A c.1091C>T p.S364F Missense 7/16 - 3
10-87615811-C-A c.1088G>T p.R363M Missense 7/16 - 1
10-87615815-C-G c.1084G>C p.G362R Missense 7/16 - 1
10-87615815-C-T c.1084G>A p.G362R Missense 7/16 - 1
10-87615817-C-A c.1082G>T p.G361V Missense 7/16 - 1
10-87615817-C-T c.1082G>A p.G361D Missense 7/16 - 1
10-87615820-T-C c.1079A>G p.N360S Missense 7/16 - 1
10-87615822-C-T c.1077G>A p.W359* Nonsense 7/16 - 2
10-87615823-C-T c.1076G>A p.W359* Nonsense 7/16 - 6
10-87615827-G-A c.1072C>T p.P358S Missense 7/16 - 2
10-87615827-G-C c.1072C>G p.P358A Missense 7/16 - 1
10-87615834-G-T c.1065C>A p.S355= Synonymous 7/16 - 1
10-87615835-G-A c.1064C>T p.S355F Missense 7/16 - 1
10-87615835-G-C c.1064C>G p.S355C Missense 7/16 - 8
10-87615836-A-G c.1063T>C p.S355P Missense 7/16 - 1
10-87615836-A-T c.1063T>A p.S355T Missense 7/16 - 2
10-87615840-C-A c.1059G>T p.R353= Synonymous 7/16 - 1
10-87615842-G-A c.1057C>T p.R353W Missense 7/16 - 1
10-87615845-T-C c.1054A>G p.I352V Missense 7/16 - 1
10-87615846-G-T c.1053C>A p.C351* Nonsense 7/16 - 1
10-87615854-G-A c.1045C>T p.L349F Missense 7/16 - 1
10-87615858-C-T c.1041G>A p.A347= Synonymous 7/16 - 1
10-87615859-G-A c.1040C>T p.A347V Missense 7/16 - 2
10-87615860-C-A c.1039G>T p.A347S Missense 7/16 - 1
10-87615870-C-T c.1029G>A p.W343* Nonsense 7/16 - 1
10-87615871-CA-GC c.1027_1028delinsGC p.W343A Missense 7/16 - 1
10-87615871-C-T c.1028G>A p.W343* Nonsense 7/16 - 1
10-87615873-CT-C c.1025del p.K342Sfs*39 Frameshift 7/16 - 1
10-87615877-CG-GC c.1021_1022delinsGC p.R341A Missense 7/16 - 1
10-87615877-C-T c.1022G>A p.R341Q Missense 7/16 - 2
10-87615879-G-A c.1020C>T p.D340= Synonymous 7/16 - 1
10-87615882-C-A c.1017G>T p.E339D Missense 7/16 - 1
10-87615882-C-G c.1017G>C p.E339D Missense 7/16 - 1
10-87615885-C-T c.1014G>A p.L338= Synonymous 7/16 - 2
10-87615890-T-C c.1009A>G p.K337E Missense 7/16 - 2
10-87615896-G-A c.1003C>T p.H335Y Missense 7/16 - 1
10-87615898-A-C c.1001T>G p.F334C Missense 7/16 - 1
10-87615899-A-T c.1000T>A p.F334I Missense 7/16 - 3
10-87615901-G-A c.998C>T p.A333V Missense 7/16 - 2
10-87615902-C-A c.997G>T p.A333S Missense 7/16 - 3
10-87615902-C-T c.997G>A p.A333T Missense 7/16 - 1
10-87615903-G-A c.996C>T p.N332= Synonymous 7/16 - 3
10-87615905-T-C c.994A>G p.N332D Missense 7/16 - 1
10-87615906-G-A c.993C>T p.A331= Synonymous 7/16 - 1
10-87615909-CAG-AAA c.988_990delinsTTT p.L330F Missense 7/16 - 1
10-87615919-A-G c.980T>C p.V327A Missense 7/16 - 3
10-87615920-C-T c.979G>A p.V327I Missense 7/16 - 1
10-87615926-C-A c.973G>T p.D325Y Missense 7/16 - 1
10-87615930-C-A c.969G>T p.L323= Synonymous 7/16 - 1
10-87615932-G-A c.967C>T p.L323= Synonymous 7/16 - 3
10-87615933-A-C c.966T>G p.Y322* Nonsense 7/16 - 2
10-87615933-A-T c.966T>A p.Y322* Nonsense 7/16 - 2
10-87615936-G-A c.963C>T p.L321= Synonymous 7/16 - 1
10-87615937-A-G c.962T>C p.L321P Missense 7/16 - 1
10-87615938-G-T c.961C>A p.L321I Missense 7/16 - 1
10-87615944-A-C c.955T>G p.S319A Missense 7/16 - 1
10-87615945-G-A c.954C>T p.I318= Synonymous 7/16 - 1
10-87615945-G-T c.954C>A p.I318= Synonymous 7/16 - 1
10-87616034-G-A c.952-87C>T - IntronicSNV - 6/15 1
10-87625343-A-G c.951+3424T>C - IntronicSNV - 6/15 1
10-87626857-C-G c.951+1910G>C - IntronicSNV - 6/15 1
10-87628767-C-A c.951G>T p.Q317H Missense 6/16 - 1
10-87628773-C-A c.945G>T p.M315I Missense 6/16 - 2
10-87628773-C-G c.945G>C p.M315I Missense 6/16 - 1
10-87628773-C-T c.945G>A p.M315I Missense 6/16 - 1
10-87628776-C-T c.942G>A p.Q314= Synonymous 6/16 - 1
10-87628781-G-A c.937C>T p.L313F Missense 6/16 - 1
10-87628786-C-A c.932G>T p.G311V Missense 6/16 - 1
10-87628787-C-A c.931G>T p.G311C Missense 6/16 - 1
10-87628789-T-G c.929A>C p.E310A Missense 6/16 - 1
10-87628790-C-A c.928G>T p.E310* Nonsense 6/16 - 2
10-87628790-C-T c.928G>A p.E310K Missense 6/16 - 6
10-87628793-G-T c.925C>A p.Q309K Missense 6/16 - 1
10-87628794-G-A c.924C>T p.P308= Synonymous 6/16 - 1
10-87628794-G-C c.924C>G p.P308= Synonymous 6/16 - 1
10-87628794-G-T c.924C>A p.P308= Synonymous 6/16 - 1
10-87628795-G-A c.923C>T p.P308L Missense 6/16 - 1
10-87628795-G-C c.923C>G p.P308R Missense 6/16 - 1
10-87628796-G-A c.922C>T p.P308S Missense 6/16 - 5
10-87628799-C-A c.919G>T p.D307Y Missense 6/16 - 4
10-87628801-C-T c.917G>A p.C306Y Missense 6/16 - 1
10-87628805-G-C c.913C>G p.L305V Missense 6/16 - 1
10-87628807-A-T c.911T>A p.L304Q Missense 6/16 - 2
10-87628808-G-A c.910C>T p.L304= Synonymous 6/16 - 1
10-87628808-G-C c.910C>G p.L304V Missense 6/16 - 1
10-87628808-G-T c.910C>A p.L304M Missense 6/16 - 5
10-87628810-G-T c.908C>A p.S303Y Missense 6/16 - 1
10-87628813-G-A c.905C>T p.S302F Missense 6/16 - 3
10-87628813-GA-AT c.904_905delinsAT p.S302I Missense 6/16 - 1
10-87628816-A-T c.902T>A p.I301N Missense 6/16 - 1
10-87628817-T-A c.901A>T p.I301F Missense 6/16 - 1
10-87628819-C-T c.899G>A p.R300H Missense 6/16 - 4
10-87628820-G-A c.898C>T p.R300C Missense 6/16 - 1
10-87628828-T-A c.890A>T p.N297I Missense 6/16 - 3
10-87628830-CCT-ATG c.886_888delinsCAT p.R296H Missense 6/16 - 1
10-87628830-C-T c.888G>A p.R296= Synonymous 6/16 - 6
10-87628832-T-G c.886A>C p.R296= Synonymous 6/16 - 2
10-87628834-G-A c.884C>T p.T295M Missense 6/16 - 5
10-87628847-T-TG c.870dup p.N291Qfs*35 Frameshift 6/16 - 1
10-87628851-C-T c.867G>A p.K289= Synonymous 6/16 - 1
10-87628860-C-A c.858G>T p.P286= Synonymous 6/16 - 3
10-87628860-C-G c.858G>C p.P286= Synonymous 6/16 - 2
10-87628860-C-T c.858G>A p.P286= Synonymous 6/16 - 4
10-87628861-G-A c.857C>T p.P286L Missense 6/16 - 5
10-87628864-A-G c.854T>C p.F285S Missense 6/16 - 4
10-87628866-G-C c.852C>G p.I284M Missense 6/16 - 2
10-87628867-A-G c.851T>C p.I284T Missense 6/16 - 1
10-87628868-T-A c.850A>T p.I284F Missense 6/16 - 1
10-87628869-T-A c.849A>T p.Q283H Missense 6/16 - 1
10-87628869-T-G c.849A>C p.Q283H Missense 6/16 - 1
10-87628871-G-A c.847C>T p.Q283* Nonsense 6/16 - 2
10-87628871-G-T c.847C>A p.Q283K Missense 6/16 - 1
10-87628873-C-T c.845G>A p.R282Q Missense 6/16 - 4
10-87628872-C-A c.846G>T p.R282= Synonymous 6/16 - 2
10-87628872-C-G c.846G>C p.R282= Synonymous 6/16 - 2
10-87628872-C-T c.846G>A p.R282= Synonymous 6/16 - 2
10-87628874-G-A c.844C>T p.R282W Missense 6/16 - 4
10-87628874-G-T c.844C>A p.R282= Synonymous 6/16 - 2
10-87628878-C-A c.840G>T p.V280= Synonymous 6/16 - 2
10-87628880-C-T c.838G>A p.V280M Missense 6/16 - 2
10-87628881-G-A c.837C>T p.T279= Synonymous 6/16 - 1
10-87628883-T-C c.835A>G p.T279A Missense 6/16 - 1
10-87628885-A-G c.833T>C p.M278T Missense 6/16 - 1
10-87628887-C-T c.831G>A p.R277= Synonymous 6/16 - 2
10-87628888-C-T c.830G>A p.R277K Missense 6/16 - 4
10-87628897-G-A c.821C>T p.A274V Missense 6/16 - 1
10-87628899-A-G c.819T>C p.S273= Synonymous 6/16 - 2
10-87628900-CT-AA c.817_818delinsTT p.S273F Missense 6/16 - 1
10-87628901-T-C c.817A>G p.S273G Missense 6/16 - 1
10-87628903-T-G c.815A>C p.H272P Missense 6/16 - 3
10-87628904-G-A c.814C>T p.H272Y Missense 6/16 - 2
10-87628907-C-G c.811G>C p.V271L Missense 6/16 - 1
10-87628911-A-C c.807T>G p.D269E Missense 6/16 - 2
10-87628911-A-T c.807T>A p.D269E Missense 6/16 - 2
10-87628913-C-T c.805G>A p.D269N Missense 6/16 - 4
10-87628915-A-G c.803T>C p.L268P Missense 6/16 - 1
10-87628917-G-A c.801C>T p.I267= Synonymous 6/16 - 7
10-87628917-G-T c.801C>A p.I267= Synonymous 6/16 - 3
10-87628918-A-G c.800T>C p.I267T Missense 6/16 - 4
10-87628922-C-A c.796G>T p.E266* Nonsense 6/16 - 1
10-87628928-C-A c.790G>T p.D264Y Missense 6/16 - 3
10-87628928-C-T c.790G>A p.D264N Missense 6/16 - 1
10-87628929-A-G c.789T>C p.S263= Synonymous 6/16 - 1
10-87628934-T-G c.784A>C p.I262L Missense 6/16 - 1
10-87628937-C-A c.781G>T p.E261* Nonsense 6/16 - 1
10-87628937-C-T c.781G>A p.E261K Missense 6/16 - 5
10-87629003-G-A c.781-66C>T - IntronicSNV - 5/15 1
10-87630924-G-A c.781-1987C>T - IntronicSNV - 5/15 1
10-87632795-A-C c.781-3858T>G - IntronicSNV - 5/15 1
10-87634533-T-C c.781-5596A>G - IntronicSNV - 5/15 1
10-87634924-C-G c.781-5987G>C - IntronicSNV - 5/15 1
10-87634924-C-T c.781-5987G>A - IntronicSNV - 5/15 1
10-87636532-G-A c.781-7595C>T - IntronicSNV - 5/15 1
10-87637788-C-T c.781-8851G>A - IntronicSNV - 5/15 1
10-87644378-C-A c.781-15441G>T - IntronicSNV - 5/15 1
10-87650378-G-A c.781-21441C>T - IntronicSNV - 5/15 1
10-87654477-G-A c.780+21466C>T - IntronicSNV - 5/15 1
10-87662111-G-A c.780+13832C>T - IntronicSNV - 5/15 1
10-87662111-G-C c.780+13832C>G - IntronicSNV - 5/15 1
10-87664996-T-G c.780+10947A>C - IntronicSNV - 5/15 1
10-87670812-G-A c.780+5131C>T - IntronicSNV - 5/15 1
10-87671031-T-G c.780+4912A>C - IntronicSNV - 5/15 1
10-87675942-C-T c.780+1G>A - IntronicSNV - 5/15 2
10-87675943-C-G c.780G>C p.E260D Missense 5/16 - 1
10-87675946-A-T c.777T>A p.N259K Missense 5/16 - 1
10-87675955-G-A c.768C>T p.V256= Synonymous 5/16 - 1
10-87675956-A-C c.767T>G p.V256G Missense 5/16 - 1
10-87675956-A-G c.767T>C p.V256A Missense 5/16 - 2
10-87675959-C-A c.764G>T p.W255L Missense 5/16 - 1
10-87675965-CT-AG c.757_758inv p.S253L Missense 5/16 - 1
10-87675966-T-G c.757A>C p.S253R Missense 5/16 - 1
10-87675969-C-T c.754G>A p.D252N Missense 5/16 - 1
10-87675971-T-C c.752A>G p.K251R Missense 5/16 - 1
10-87675974-G-A c.749C>T p.S250F Missense 5/16 - 2
10-87675974-GA-CG c.748_749delinsCG p.S250R Missense 5/16 - 1
10-87675977-G-T c.746C>A p.A249D Missense 5/16 - 1
10-87675978-C-G c.745G>C p.A249P Missense 5/16 - 2
10-87675982-G-A c.741C>T p.N247= Synonymous 5/16 - 1
10-87675982-G-C c.741C>G p.N247K Missense 5/16 - 1
10-87675988-C-A c.735G>T p.E245D Missense 5/16 - 2
10-87675988-C-G c.735G>C p.E245D Missense 5/16 - 1
10-87675988-C-T c.735G>A p.E245= Synonymous 5/16 - 1
10-87675993-C-A c.730G>T p.V244L Missense 5/16 - 1
10-87675993-C-G c.730G>C p.V244L Missense 5/16 - 1
10-87675993-C-T c.730G>A p.V244M Missense 5/16 - 2
10-87675994-G-A c.729C>T p.A243= Synonymous 5/16 - 4
10-87675994-G-C c.729C>G p.A243= Synonymous 5/16 - 4
10-87675994-G-T c.729C>A p.A243= Synonymous 5/16 - 1
10-87675995-G-A c.728C>T p.A243V Missense 5/16 - 2
10-87675995-G-C c.728C>G p.A243G Missense 5/16 - 1
10-87675996-C-A c.727G>T p.A243S Missense 5/16 - 1
10-87676065-G-A c.727-69C>T - IntronicSNV - 4/15 1
10-87680908-T-A c.727-4912A>T - IntronicSNV - 4/15 2
10-87680908-T-G c.727-4912A>C - IntronicSNV - 4/15 2
10-87687398-T-G c.727-11402A>C - IntronicSNV - 4/15 1
10-87694292-T-A c.727-18296A>T - IntronicSNV - 4/15 1
10-87694292-T-C c.727-18296A>G - IntronicSNV - 4/15 1
10-87706531-A-G c.727-30535T>C - IntronicSNV - 4/15 1
10-87707600-G-A c.727-31604C>T - IntronicSNV - 4/15 1
10-87709630-G-A c.727-33634C>T - IntronicSNV - 4/15 1
10-87721182-G-C c.727-45186C>G - IntronicSNV - 4/15 1
10-87723673-T-C c.727-47677A>G - IntronicSNV - 4/15 1
10-87740753-C-T c.727-64757G>A - IntronicSNV - 4/15 1
10-87762136-G-A c.727-86140C>T - IntronicSNV - 4/15 1
10-87764360-A-G c.727-88364T>C - IntronicSNV - 4/15 1
10-87774397-G-A c.727-98401C>T - IntronicSNV - 4/15 1
10-87774397-G-C c.727-98401C>G - IntronicSNV - 4/15 1
10-87793201-G-C c.726+105375C>G - IntronicSNV - 4/15 1
10-87794477-TTG-T c.726+104098_726+104099del - IntronicDeletion - 4/15 1
10-87797344-G-T c.726+101232C>A - IntronicSNV - 4/15 1
10-87798392-G-A c.726+100184C>T - IntronicSNV - 4/15 1
10-87799575-C-T c.726+99001G>A - IntronicSNV - 4/15 1
10-87800131-T-G c.726+98445A>C - IntronicSNV - 4/15 1
10-87800136-C-T c.726+98440G>A - IntronicSNV - 4/15 1
10-87801518-A-G c.726+97058T>C - IntronicSNV - 4/15 1
10-87802847-A-C c.726+95729T>G - IntronicSNV - 4/15 1
10-87802846-CA-C c.726+95729del - IntronicDeletion - 4/15 1
10-87805138-CA-C c.726+93437del - IntronicDeletion - 4/15 1
10-87807129-T-A c.726+91447A>T - IntronicSNV - 4/15 1
10-87807234-T-C c.726+91342A>G - IntronicSNV - 4/15 1
10-87807267-T-G c.726+91309A>C - IntronicSNV - 4/15 1
10-87807294-G-A c.726+91282C>T - IntronicSNV - 4/15 1
10-87807390-G-A c.726+91186C>T - IntronicSNV - 4/15 1
10-87808240-G-T c.726+90336C>A - IntronicSNV - 4/15 1
10-87813105-AT-A c.726+85470del - IntronicDeletion - 4/15 1
10-87817295-G-C c.726+81281C>G - IntronicSNV - 4/15 1
10-87817298-CCT-C c.726+81276_726+81277del - IntronicDeletion - 4/15 1
10-87818306-C-T c.726+80270G>A - IntronicSNV - 4/15 1
10-87819771-A-G c.726+78805T>C - IntronicSNV - 4/15 1
10-87824238-G-A c.726+74338C>T - IntronicSNV - 4/15 1
10-87825454-TA-T c.726+73121del - IntronicDeletion - 4/15 1
10-87828975-A-G c.726+69601T>C - IntronicSNV - 4/15 1
10-87837404-G-A c.726+61172C>T - IntronicSNV - 4/15 1
10-87837607-C-T c.726+60969G>A - IntronicSNV - 4/15 1
10-87839709-C-A c.726+58867G>T - IntronicSNV - 4/15 1
10-87840046-G-A c.726+58530C>T - IntronicSNV - 4/15 1
10-87843005-T-A c.726+55571A>T - IntronicSNV - 4/15 1
10-87843005-T-G c.726+55571A>C - IntronicSNV - 4/15 1
10-87843202-T-C c.726+55374A>G - IntronicSNV - 4/15 1
10-87843290-G-A c.726+55286C>T - IntronicSNV - 4/15 1
10-87843290-G-C c.726+55286C>G - IntronicSNV - 4/15 1
10-87844013-C-A c.726+54563G>T - IntronicSNV - 4/15 1
10-87844013-C-G c.726+54563G>C - IntronicSNV - 4/15 1
10-87844013-C-T c.726+54563G>A - IntronicSNV - 4/15 1
10-87844851-G-C c.726+53725C>G - IntronicSNV - 4/15 1
10-87846959-C-G c.726+51617G>C - IntronicSNV - 4/15 3
10-87846959-C-T c.726+51617G>A - IntronicSNV - 4/15 3
10-87847947-G-A c.726+50629C>T - IntronicSNV - 4/15 1
10-87847951-G-A c.726+50625C>T - IntronicSNV - 4/15 1
10-87847957-C-T c.726+50619G>A - IntronicSNV - 4/15 1
10-87847980-G-A c.726+50596C>T - IntronicSNV - 4/15 1
10-87848002-T-C c.726+50574A>G - IntronicSNV - 4/15 1
10-87848003-T-C c.726+50573A>G - IntronicSNV - 4/15 1
10-87848067-TAG-T c.726+50507_726+50508del - IntronicDeletion - 4/15 1
10-87860030-C-T c.726+38546G>A - IntronicSNV - 4/15 1
10-87864050-G-T c.726+34526C>A - IntronicSNV - 4/15 1
10-87865009-A-G c.726+33567T>C - IntronicSNV - 4/15 2
10-87865684-AG-A c.726+32891del - IntronicDeletion - 4/15 1
10-87866270-C-T c.726+32306G>A - IntronicSNV - 4/15 1
10-87867554-C-A c.726+31022G>T - IntronicSNV - 4/15 1
10-87867854-C-G c.726+30722G>C - IntronicSNV - 4/15 1
10-87867854-C-T c.726+30722G>A - IntronicSNV - 4/15 1
10-87882916-C-T c.726+15660G>A - IntronicSNV - 4/15 1
10-87883488-C-G c.726+15088G>C - IntronicSNV - 4/15 1
10-87883497-C-T c.726+15079G>A - IntronicSNV - 4/15 1
10-87883682-C-A c.726+14894G>T - IntronicSNV - 4/15 1
10-87888778-C-T c.726+9798G>A - IntronicSNV - 4/15 1
10-87888887-G-C c.726+9689C>G - IntronicSNV - 4/15 1
10-87893788-C-G c.726+4788G>C - IntronicSNV - 4/15 1
10-87893788-C-T c.726+4788G>A - IntronicSNV - 4/15 1
10-87894072-G-A c.726+4504C>T - IntronicSNV - 4/15 1
10-87895283-G-A c.726+3293C>T - IntronicSNV - 4/15 1
10-87896748-CA-C c.726+1827del - IntronicDeletion - 4/15 1
10-87898268-GA-G c.726+307del - IntronicDeletion - 4/15 1
10-87898491-C-T c.726+85G>A - IntronicSNV - 4/15 1
10-87898576-C-A c.726G>T p.E242D Missense 4/16 - 1
10-87898577-T-C c.725A>G p.E242G Missense 4/16 - 1
10-87898578-C-T c.724G>A p.E242K Missense 4/16 - 4
10-87898579-G-A c.723C>T p.N241= Synonymous 4/16 - 2
10-87898581-T-A c.721A>T p.N241Y Missense 4/16 - 1
10-87898583-A-G c.719T>C p.I240T Missense 4/16 - 1
10-87898589-G-A c.713C>T p.S238F Missense 4/16 - 1
10-87898591-G-C c.711C>G p.H237Q Missense 4/16 - 1
10-87898598-CC-TT c.703_704delinsAA p.G235K Missense 4/16 - 1
10-87898598-C-T c.704G>A p.G235E Missense 4/16 - 5
10-87898599-C-T c.703G>A p.G235R Missense 4/16 - 2
10-87898604-G-T c.698C>A p.P233Q Missense 4/16 - 1
10-87898605-G-T c.697C>A p.P233T Missense 4/16 - 6
10-87898609-G-A c.693C>T p.L231= Synonymous 4/16 - 2
10-87898609-G-C c.693C>G p.L231= Synonymous 4/16 - 1
10-87898609-G-T c.693C>A p.L231= Synonymous 4/16 - 1
10-87898611-G-A c.691C>T p.L231F Missense 4/16 - 1
10-87898612-C-A c.690G>T p.L230= Synonymous 4/16 - 3
10-87898618-G-A c.684C>T p.I228= Synonymous 4/16 - 3
10-87898623-C-T c.679G>A p.A227T Missense 4/16 - 4
10-87898624-G-A c.678C>T p.R226= Synonymous 4/16 - 1
10-87898624-GCG-CTT c.676_678delinsAAG p.R226K Missense 4/16 - 1
10-87898625-C-T c.677G>A p.R226H Missense 4/16 - 1
10-87898627-GC-TT c.674_675delinsAA p.R225Q Missense 4/16 - 1
10-87898628-CG-AT c.673_674delinsAT p.R225I Missense 4/16 - 1
10-87898628-C-T c.674G>A p.R225H Missense 4/16 - 1
10-87898629-G-A c.673C>T p.R225C Missense 4/16 - 2
10-87898632-G-C c.670C>G p.L224V Missense 4/16 - 1
10-87898633-C-A c.669G>T p.T223= Synonymous 4/16 - 1
10-87898633-C-G c.669G>C p.T223= Synonymous 4/16 - 1
10-87898633-C-T c.669G>A p.T223= Synonymous 4/16 - 1
10-87898634-G-A c.668C>T p.T223M Missense 4/16 - 2
10-87898634-G-T c.668C>A p.T223K Missense 4/16 - 1
10-87898639-C-T c.663G>A p.R221= Synonymous 4/16 - 1
10-87898641-G-A c.661C>T p.R221W Missense 4/16 - 8
10-87898643-T-A c.659A>T p.Y220F Missense 4/16 - 1
10-87898646-C-T c.656G>A p.R219H Missense 4/16 - 3
10-87898647-G-A c.655C>T p.R219C Missense 4/16 - 2
10-87898651-C-A c.651G>T p.L217= Synonymous 4/16 - 1
10-87898651-C-G c.651G>C p.L217= Synonymous 4/16 - 2
10-87898651-C-T c.651G>A p.L217= Synonymous 4/16 - 1
10-87898653-G-A c.649C>T p.L217= Synonymous 4/16 - 1
10-87898656-C-A c.646G>T p.E216* Nonsense 4/16 - 1
10-87898659-C-T c.643G>A p.E215K Missense 4/16 - 1
10-87898663-C-T c.639G>A p.K213= Synonymous 4/16 - 1
10-87898667-A-G c.635T>C p.M212T Missense 4/16 - 1
10-87898668-T-A c.634A>T p.M212L Missense 4/16 - 3
10-87898668-T-G c.634A>C p.M212L Missense 4/16 - 2
10-87898669-C-A c.633G>T p.T211= Synonymous 4/16 - 1
10-87898669-C-G c.633G>C p.T211= Synonymous 4/16 - 1
10-87898669-CG-GT c.632_633delinsAC p.T211N Missense 4/16 - 1
10-87898669-C-T c.633G>A p.T211= Synonymous 4/16 - 1
10-87898670-G-A c.632C>T p.T211M Missense 4/16 - 2
10-87898675-G-A c.627C>T p.F209= Synonymous 4/16 - 2
10-87898678-G-A c.624C>T p.L208= Synonymous 4/16 - 1
10-87898678-G-C c.624C>G p.L208= Synonymous 4/16 - 1
10-87898678-G-T c.624C>A p.L208= Synonymous 4/16 - 1
10-87898682-C-T c.620G>A p.S207N Missense 4/16 - 1
10-87898685-G-A c.617C>T p.T206I Missense 4/16 - 1
10-87898686-T-G c.616A>C p.T206P Missense 4/16 - 1
10-87898692-C-A c.610G>T p.V204L Missense 4/16 - 1
10-87898692-C-G c.610G>C p.V204L Missense 4/16 - 1
10-87898692-C-T c.610G>A p.V204I Missense 4/16 - 3
10-87898695-G-A c.607C>T p.H203Y Missense 4/16 - 1
10-87898696-G-T c.606C>A p.S202R Missense 4/16 - 1
10-87898697-C-A c.605G>T p.S202I Missense 4/16 - 1
10-87898702-G-A c.600C>T p.N200= Synonymous 4/16 - 1
10-87898705-C-T c.597G>A p.K199= Synonymous 4/16 - 1
10-87898706-T-C c.596A>G p.K199R Missense 4/16 - 1
10-87898706-T-G c.596A>C p.K199T Missense 4/16 - 1
10-87898729-G-A c.573C>T p.D191= Synonymous 4/16 - 13
10-87898731-C-A c.571G>T p.D191Y Missense 4/16 - 1
10-87898734-G-T c.568C>A p.L190I Missense 4/16 - 1
10-87898736-C-T c.566G>A p.G189D Missense 4/16 - 2
10-87898737-C-T c.565G>A p.G189S Missense 4/16 - 1
10-87898742-C-T c.560G>A p.R187Q Missense 4/16 - 4
10-87898741-C-A c.561G>T p.R187= Synonymous 4/16 - 1
10-87898741-C-G c.561G>C p.R187= Synonymous 4/16 - 1
10-87898741-C-T c.561G>A p.R187= Synonymous 4/16 - 1
10-87898743-G-A c.559C>T p.R187W Missense 4/16 - 2
10-87898743-G-T c.559C>A p.R187= Synonymous 4/16 - 1
10-87898744-C-A c.558G>T p.S186= Synonymous 4/16 - 1
10-87898744-C-G c.558G>C p.S186= Synonymous 4/16 - 1
10-87898744-C-T c.558G>A p.S186= Synonymous 4/16 - 1
10-87898745-G-A c.557C>T p.S186L Missense 4/16 - 6
10-87898745-G-C c.557C>G p.S186W Missense 4/16 - 2
10-87898749-C-A c.553G>T p.A185S Missense 4/16 - 1
10-87898760-A-G c.542T>C p.F181S Missense 4/16 - 1
10-87898759-A-C c.543T>G p.F181L Missense 4/16 - 1
10-87898759-A-T c.543T>A p.F181L Missense 4/16 - 1
10-87898761-A-G c.541T>C p.F181L Missense 4/16 - 1
10-87898763-C-T c.539G>A p.S180N Missense 4/16 - 1
10-87898770-G-A c.532C>T p.L178F Missense 4/16 - 1
10-87898771-C-G c.531G>C p.G177= Synonymous 4/16 - 3
10-87898772-C-T c.530G>A p.G177E Missense 4/16 - 3
10-87898773-C-T c.529G>A p.G177R Missense 4/16 - 1
10-87898775-C-T c.527G>A p.R176H Missense 4/16 - 12
10-87898776-G-A c.526C>T p.R176C Missense 4/16 - 2
10-87898777-G-A c.525C>T p.I175= Synonymous 4/16 - 2
10-87898777-G-T c.525C>A p.I175= Synonymous 4/16 - 1
10-87898839-G-A c.521-58C>T - IntronicSNV - 3/15 5
10-87898998-T-A c.521-217A>T - IntronicSNV - 3/15 1
10-87898998-T-C c.521-217A>G - IntronicSNV - 3/15 1
10-87898998-T-G c.521-217A>C - IntronicSNV - 3/15 1
10-87909728-G-A c.521-10947C>T - IntronicSNV - 3/15 1
10-87923955-A-T c.521-25174T>A - IntronicSNV - 3/15 1
10-87933667-AT-A c.520+32453del - IntronicDeletion - 3/15 1
10-87937195-TG-T c.520+28925del - IntronicDeletion - 3/15 1
10-87939815-G-T c.520+26306C>A - IntronicSNV - 3/15 1
10-87939958-G-A c.520+26163C>T - IntronicSNV - 3/15 1
10-87943006-T-A c.520+23115A>T - IntronicSNV - 3/15 1
10-87943609-T-A c.520+22512A>T - IntronicSNV - 3/15 1
10-87943609-T-C c.520+22512A>G - IntronicSNV - 3/15 1
10-87944542-C-A c.520+21579G>T - IntronicSNV - 3/15 1
10-87944571-G-A c.520+21550C>T - IntronicSNV - 3/15 2
10-87946459-A-T c.520+19662T>A - IntronicSNV - 3/15 1
10-87954528-G-A c.520+11593C>T - IntronicSNV - 3/15 1
10-87956071-A-G c.520+10050T>C - IntronicSNV - 3/15 1
10-87957606-G-A c.520+8515C>T - IntronicSNV - 3/15 1
10-87962114-T-C c.520+4007A>G - IntronicSNV - 3/15 1
10-87963460-C-T c.520+2661G>A - IntronicSNV - 3/15 1
10-87965913-T-A c.520+208A>T - IntronicSNV - 3/15 1
10-87966028-T-A c.520+93A>T - IntronicSNV - 3/15 2
10-87966028-T-C c.520+93A>G - IntronicSNV - 3/15 2
10-87966127-C-T c.514G>A p.E172K Missense 3/16 - 2
10-87966128-G-A c.513C>T p.S171= Synonymous 3/16 - 1
10-87966133-C-T c.508G>A p.D170N Missense 3/16 - 4
10-87966134-G-A c.507C>T p.Y169= Synonymous 3/16 - 8
10-87966134-G-C c.507C>G p.Y169* Nonsense 3/16 - 2
10-87966134-G-T c.507C>A p.Y169* Nonsense 3/16 - 3
10-87966135-T-C c.506A>G p.Y169C Missense 3/16 - 1
10-87966137-G-A c.504C>T p.F168= Synonymous 3/16 - 2
10-87966142-T-C c.499A>G p.M167V Missense 3/16 - 1
10-87966145-C-T c.496G>A p.V166I Missense 3/16 - 4
10-87966146-G-A c.495C>T p.F165= Synonymous 3/16 - 3
10-87966149-C-A c.492G>T p.K164N Missense 3/16 - 1
10-87966149-C-G c.492G>C p.K164N Missense 3/16 - 1
10-87966149-C-T c.492G>A p.K164= Synonymous 3/16 - 2
10-87966157-A-G c.484T>C p.W162R Missense 3/16 - 1
10-87966157-A-T c.484T>A p.W162R Missense 3/16 - 1
10-87966159-C-T c.482G>A p.R161H Missense 3/16 - 4
10-87966160-G-T c.481C>A p.R161S Missense 3/16 - 1
10-87966164-C-T c.477G>A p.E159= Synonymous 3/16 - 1
10-87966166-C-CTA c.474_475insTA p.E159* Nonsense 3/16 - 1
10-87966166-C-T c.475G>A p.E159K Missense 3/16 - 1
10-87966167-C-T c.474G>A p.T158= Synonymous 3/16 - 2
10-87966168-G-A c.473C>T p.T158M Missense 3/16 - 4
10-87966169-T-C c.472A>G p.T158A Missense 3/16 - 2
10-87966173-C-A c.468G>T p.L156= Synonymous 3/16 - 1
10-87966173-C-G c.468G>C p.L156= Synonymous 3/16 - 1
10-87966173-C-T c.468G>A p.L156= Synonymous 3/16 - 1
10-87966175-G-A c.466C>T p.L156= Synonymous 3/16 - 1
10-87966182-C-A c.459G>T p.M153I Missense 3/16 - 1
10-87966182-C-G c.459G>C p.M153I Missense 3/16 - 1
10-87966182-C-T c.459G>A p.M153I Missense 3/16 - 1
10-87966184-T-A c.457A>T p.M153L Missense 3/16 - 1
10-87966184-T-G c.457A>C p.M153L Missense 3/16 - 1
10-87966187-C-G c.454G>C p.V152L Missense 3/16 - 1
10-87966190-C-T c.451G>A p.D151N Missense 3/16 - 1
10-87966197-G-A c.444C>T p.R148= Synonymous 3/16 - 1
10-87966198-C-A c.443G>T p.R148L Missense 3/16 - 1
10-87966198-C-T c.443G>A p.R148H Missense 3/16 - 5
10-87966199-G-A c.442C>T p.R148C Missense 3/16 - 4
10-87966200-G-A c.441C>T p.V147= Synonymous 3/16 - 3
10-87966202-C-T c.439G>A p.V147I Missense 3/16 - 9
10-87966203-G-A c.438C>T p.P146= Synonymous 3/16 - 4
10-87966203-G-C c.438C>G p.P146= Synonymous 3/16 - 1
10-87966203-G-T c.438C>A p.P146= Synonymous 3/16 - 1
10-87966204-G-A c.437C>T p.P146L Missense 3/16 - 3
10-87966205-G-T c.436C>A p.P146T Missense 3/16 - 1
10-87966206-T-A c.435A>T p.P145= Synonymous 3/16 - 2
10-87966206-T-C c.435A>G p.P145= Synonymous 3/16 - 2
10-87966206-T-G c.435A>C p.P145= Synonymous 3/16 - 2
10-87966209-T-A c.432A>T p.R144S Missense 3/16 - 1
10-87966209-T-C c.432A>G p.R144= Synonymous 3/16 - 1
10-87966209-T-G c.432A>C p.R144S Missense 3/16 - 1
10-87966211-T-G c.430A>C p.R144= Synonymous 3/16 - 1
10-87966210-C-T c.431G>A p.R144K Missense 3/16 - 1
10-87966213-G-A c.428C>T p.S143L Missense 3/16 - 5
10-87966216-G-T c.425C>A p.A142D Missense 3/16 - 1
10-87966217-C-T c.424G>A p.A142T Missense 3/16 - 1
10-87966219-A-G c.422T>C p.L141P Missense 3/16 - 1
10-87966221-T-A c.420A>T p.T140= Synonymous 3/16 - 1
10-87966221-T-C c.420A>G p.T140= Synonymous 3/16 - 1
10-87966221-T-G c.420A>C p.T140= Synonymous 3/16 - 1
10-87966225-T-C c.416A>G p.Y139C Missense 3/16 - 2
10-87966229-C-T c.412G>A p.A138T Missense 3/16 - 2
10-87966230-C-T c.411G>A p.E137= Synonymous 3/16 - 1
10-87966232-C-A c.409G>T p.E137* Nonsense 3/16 - 4
10-87966234-C-T c.407G>A p.G136D Missense 3/16 - 1
10-87966235-C-T c.406G>A p.G136S Missense 3/16 - 3
10-87966238-C-A c.403G>T p.D135Y Missense 3/16 - 1
10-87966238-C-T c.403G>A p.D135N Missense 3/16 - 5
10-87966239-G-A c.402C>T p.P134= Synonymous 3/16 - 2
10-87966240-G-A c.401C>T p.P134L Missense 3/16 - 1
10-87966240-G-T c.401C>A p.P134H Missense 3/16 - 2
10-87966246-G-A c.395C>T p.P132L Missense 3/16 - 2
10-87966247-G-A c.394C>T p.P132S Missense 3/16 - 6
10-87966252-A-G c.389T>C p.L130P Missense 3/16 - 1
10-87966256-G-A c.385C>T p.H129Y Missense 3/16 - 2
10-87966257-G-A c.384C>T p.C128= Synonymous 3/16 - 1
10-87966262-C-T c.379G>A p.A127T Missense 3/16 - 2
10-87966263-G-A c.378C>T p.T126= Synonymous 3/16 - 2
10-87966263-G-C c.378C>G p.T126= Synonymous 3/16 - 1
10-87966263-G-T c.378C>A p.T126= Synonymous 3/16 - 1
10-87966267-C-T c.374G>A p.R125H Missense 3/16 - 6
10-87966268-G-A c.373C>T p.R125C Missense 3/16 - 7
10-87966270-G-T c.371C>A p.P124Q Missense 3/16 - 1
10-87966273-G-A c.368C>T p.S123L Missense 3/16 - 8
10-87966275-CC-GT c.365_366delinsAC p.G122D Missense 3/16 - 1
10-87966281-C-T c.360G>A p.P120= Synonymous 3/16 - 1
10-87966282-G-A c.359C>T p.P120L Missense 3/16 - 3
10-87966282-G-T c.359C>A p.P120Q Missense 3/16 - 1
10-87966283-G-A c.358C>T p.P120S Missense 3/16 - 1
10-87966284-G-C c.357C>G p.N119K Missense 3/16 - 1
10-87966288-C-T c.353G>A p.R118H Missense 3/16 - 5
10-87966289-G-A c.352C>T p.R118C Missense 3/16 - 1
10-87966289-G-C c.352C>G p.R118G Missense 3/16 - 1
10-87966293-G-A c.348C>T p.V116= Synonymous 3/16 - 1
10-87966299-G-A c.342C>T p.L114= Synonymous 3/16 - 1
10-87966299-G-C c.342C>G p.L114= Synonymous 3/16 - 1
10-87966299-G-T c.342C>A p.L114= Synonymous 3/16 - 1
10-87966306-G-A c.335C>T p.P112L Missense 3/16 - 2
10-87966314-C-T c.327G>A p.M109I Missense 3/16 - 1
10-87966319-C-T c.322G>A p.A108T Missense 3/16 - 3
10-87966320-A-G c.321T>C p.D107= Synonymous 3/16 - 2
10-87966323-C-A c.318G>T p.T106= Synonymous 3/16 - 2
10-87966323-C-G c.318G>C p.T106= Synonymous 3/16 - 2
10-87966323-CG-GA c.317_318delinsTC p.T106I Missense 3/16 - 1
10-87966323-CGT-ACA c.316_318delinsTGT p.T106C Missense 3/16 - 1
10-87966323-C-T c.318G>A p.T106= Synonymous 3/16 - 2
10-87966324-G-A c.317C>T p.T106M Missense 3/16 - 9
10-87966328-G-A c.313C>T p.L105F Missense 3/16 - 1
10-87966329-G-A c.312C>T p.S104= Synonymous 3/16 - 1
10-87966330-G-A c.311C>T p.S104F Missense 3/16 - 1
10-87966334-G-A c.307C>T p.Q103* Nonsense 3/16 - 1
10-87966338-G-A c.303C>T p.A101= Synonymous 3/16 - 1
10-87966338-G-C c.303C>G p.A101= Synonymous 3/16 - 1
10-87966338-G-T c.303C>A p.A101= Synonymous 3/16 - 1
10-87966345-G-A c.296C>T p.A99V Missense 3/16 - 1
10-87966351-G-A c.290C>T p.A97V Missense 3/16 - 1
10-87966354-C-G c.287G>C p.C96S Missense 3/16 - 1
10-87966365-C-A c.276G>T p.T92= Synonymous 3/16 - 1
10-87966365-C-G c.276G>C p.T92= Synonymous 3/16 - 1
10-87966365-C-T c.276G>A p.T92= Synonymous 3/16 - 3
10-87966366-G-C c.275C>G p.T92R Missense 3/16 - 3
10-87966373-A-T c.268T>A p.L90M Missense 3/16 - 1
10-87966374-G-A c.267C>T p.A89= Synonymous 3/16 - 1
10-87966375-G-A c.266C>T p.A89V Missense 3/16 - 4
10-87966375-GC-CA c.265_266delinsTG p.A89C Missense 3/16 - 1
10-87966378-A-G c.263T>C p.L88S Missense 3/16 - 1
10-87966381-A-T c.260T>A p.I87N Missense 3/16 - 1
10-87966383-C-A c.258G>T p.G86= Synonymous 3/16 - 1
10-87966383-C-G c.258G>C p.G86= Synonymous 3/16 - 1
10-87966383-C-T c.258G>A p.G86= Synonymous 3/16 - 1
10-87966384-CC-TT c.256_257delinsAA p.G86K Missense 3/16 - 1
10-87966388-G-T c.253C>A p.Q85K Missense 3/16 - 1
10-87966389-GG-CA c.251_252delinsTG p.T84M Missense 3/16 - 1
10-87966392-C-A c.249G>T p.M83I Missense 3/16 - 1
10-87966392-C-G c.249G>C p.M83I Missense 3/16 - 1
10-87966392-C-T c.249G>A p.M83I Missense 3/16 - 1
10-87966394-T-A c.247A>T p.M83L Missense 3/16 - 1
10-87966397-G-A c.244C>T p.L82F Missense 3/16 - 2
10-87966399-T-C c.242A>G p.D81G Missense 3/16 - 1
10-87966404-G-A c.237C>T p.A79= Synonymous 3/16 - 1
10-87966404-G-C c.237C>G p.A79= Synonymous 3/16 - 1
10-87966404-G-T c.237C>A p.A79= Synonymous 3/16 - 1
10-87966405-G-T c.236C>A p.A79D Missense 3/16 - 2
10-87967577-C-G c.236-1172G>C - IntronicSNV - 2/15 1
10-87967577-C-T c.236-1172G>A - IntronicSNV - 2/15 1
10-87971858-C-T c.236-5453G>A - IntronicSNV - 2/15 1
10-87974459-A-T c.236-8054T>A - IntronicSNV - 2/15 1
10-87978214-G-A c.236-11809C>T - IntronicSNV - 2/15 1
10-87979761-T-C c.236-13356A>G - IntronicSNV - 2/15 1
10-87981624-G-C c.236-15219C>G - IntronicSNV - 2/15 1
10-87981655-T-C c.236-15250A>G - IntronicSNV - 2/15 1
10-87981756-A-T c.236-15351T>A - IntronicSNV - 2/15 1
10-87985909-T-C c.236-19504A>G - IntronicSNV - 2/15 1
10-87986807-G-A c.236-20402C>T - IntronicSNV - 2/15 1
10-87987329-G-GC c.236-20925dup - IntronicInsertion - 2/15 1
10-87991098-A-G c.236-24693T>C - IntronicSNV - 2/15 1
10-87991976-G-A c.236-25571C>T - IntronicSNV - 2/15 1
10-87993073-A-G c.236-26668T>C - IntronicSNV - 2/15 1
10-87993341-C-T c.236-26936G>A - IntronicSNV - 2/15 3
10-87998966-G-C c.236-32561C>G - IntronicSNV - 2/15 1
10-88005546-A-C c.236-39141T>G - IntronicSNV - 2/15 1
10-88005546-A-G c.236-39141T>C - IntronicSNV - 2/15 1
10-88006977-A-G c.236-40572T>C - IntronicSNV - 2/15 1
10-88007016-A-ATG c.236-40612_236-40611insCA - IntronicInsertion - 2/15 1
10-88007105-G-C c.236-40700C>G - IntronicSNV - 2/15 1
10-88008900-C-T c.236-42495G>A - IntronicSNV - 2/15 2
10-88012898-T-C c.236-46493A>G - IntronicSNV - 2/15 1
10-88024443-T-A c.236-58038A>T - IntronicSNV - 2/15 9
10-88024443-T-C c.236-58038A>G - IntronicSNV - 2/15 9
10-88024462-A-G c.236-58057T>C - IntronicSNV - 2/15 1
10-88024553-C-T c.236-58148G>A - IntronicSNV - 2/15 8
10-88027140-C-A c.236-60735G>T - IntronicSNV - 2/15 1
10-88030441-C-T c.236-64036G>A - IntronicSNV - 2/15 2
10-88035029-A-G c.236-68624T>C - IntronicSNV - 2/15 1
10-88036624-A-G c.236-70219T>C - IntronicSNV - 2/15 1
10-88045116-T-C c.235+78582A>G - IntronicSNV - 2/15 1
10-88053572-C-A c.235+70126G>T - IntronicSNV - 2/15 1
10-88053572-C-T c.235+70126G>A - IntronicSNV - 2/15 1
10-88056007-A-C c.235+67691T>G - IntronicSNV - 2/15 1
10-88057461-A-T c.235+66237T>A - IntronicSNV - 2/15 1
10-88059045-C-A c.235+64653G>T - IntronicSNV - 2/15 1
10-88062271-C-T c.235+61427G>A - IntronicSNV - 2/15 1
10-88067925-T-C c.235+55773A>G - IntronicSNV - 2/15 1
10-88071059-G-A c.235+52639C>T - IntronicSNV - 2/15 1
10-88073774-T-C c.235+49924A>G - IntronicSNV - 2/15 1
10-88074807-C-A c.235+48891G>T - IntronicSNV - 2/15 1
10-88074807-C-T c.235+48891G>A - IntronicSNV - 2/15 1
10-88081438-C-T c.235+42260G>A - IntronicSNV - 2/15 2
10-88090483-C-A c.235+33215G>T - IntronicSNV - 2/15 1
10-88092748-C-A c.235+30950G>T - IntronicSNV - 2/15 1
10-88096047-G-C c.235+27651C>G - IntronicSNV - 2/15 3
10-88096047-G-T c.235+27651C>A - IntronicSNV - 2/15 3
10-88096346-C-T c.235+27352G>A - IntronicSNV - 2/15 1
10-88099967-G-A c.235+23731C>T - IntronicSNV - 2/15 1
10-88101367-T-A c.235+22331A>T - IntronicSNV - 2/15 1
10-88101367-T-C c.235+22331A>G - IntronicSNV - 2/15 1
10-88101391-G-A c.235+22307C>T - IntronicSNV - 2/15 1
10-88103416-C-T c.235+20282G>A - IntronicSNV - 2/15 1
10-88104752-AT-A c.235+18945del - IntronicDeletion - 2/15 1
10-88112323-G-A c.235+11375C>T - IntronicSNV - 2/15 1
10-88112323-G-C c.235+11375C>G - IntronicSNV - 2/15 1
10-88112323-G-T c.235+11375C>A - IntronicSNV - 2/15 1
10-88112939-G-A c.235+10759C>T - IntronicSNV - 2/15 1
10-88116035-G-A c.235+7663C>T - IntronicSNV - 2/15 1
10-88116479-G-A c.235+7219C>T - IntronicSNV - 2/15 1
10-88116479-G-C c.235+7219C>G - IntronicSNV - 2/15 1
10-88117122-T-C c.235+6576A>G - IntronicSNV - 2/15 1
10-88117234-G-A c.235+6464C>T - IntronicSNV - 2/15 1
10-88119015-A-G c.235+4683T>C - IntronicSNV - 2/15 1
10-88123405-G-A c.235+293C>T - IntronicSNV - 2/15 1
10-88123409-A-C c.235+289T>G - IntronicSNV - 2/15 1
10-88123468-C-G c.235+230G>C - IntronicSNV - 2/15 1
10-88123696-A-G c.235+2T>C - IntronicSNV - 2/15 1
10-88123702-C-T c.231G>A p.Q77= Synonymous 2/16 - 1
10-88123703-T-C c.230A>G p.Q77R Missense 2/16 - 1
10-88123705-CAC-GAT c.226_228delinsATC p.V76I Missense 2/16 - 1
10-88123708-AG-CT c.224_225inv p.A75E Missense 2/16 - 1
10-88123714-G-A c.219C>T p.F73= Synonymous 2/16 - 2
10-88123716-A-T c.217T>A p.F73I Missense 2/16 - 4
10-88123717-T-A c.216A>T p.P72= Synonymous 2/16 - 3
10-88123717-T-C c.216A>G p.P72= Synonymous 2/16 - 2
10-88123717-T-G c.216A>C p.P72= Synonymous 2/16 - 2
10-88123727-G-A c.206C>T p.A69V Missense 2/16 - 1
10-88123731-C-T c.202G>A p.E68K Missense 2/16 - 2
10-88123732-G-A c.201C>T p.I67= Synonymous 2/16 - 1
10-88123732-G-T c.201C>A p.I67= Synonymous 2/16 - 1
10-88123736-A-G c.197T>C p.V66A Missense 2/16 - 1
10-88123739-T-A c.194A>T p.K65M Missense 2/16 - 1
10-88123744-G-A c.189C>T p.S63= Synonymous 2/16 - 3
10-88123744-G-C c.189C>G p.S63= Synonymous 2/16 - 1
10-88123744-G-T c.189C>A p.S63= Synonymous 2/16 - 1
10-88123746-A-T c.187T>A p.S63T Missense 2/16 - 1
10-88123752-T-C c.181A>G p.T61A Missense 2/16 - 1
10-88123761-C-T c.172G>A p.E58K Missense 2/16 - 1
10-88123762-G-C c.171C>G p.S57R Missense 2/16 - 1
10-88123762-G-T c.171C>A p.S57R Missense 2/16 - 1
10-88123764-T-G c.169A>C p.S57R Missense 2/16 - 1
10-88123763-C-G c.170G>C p.S57T Missense 2/16 - 1
10-88123768-C-A c.165G>T p.L55= Synonymous 2/16 - 1
10-88123768-C-G c.165G>C p.L55= Synonymous 2/16 - 1
10-88123768-C-T c.165G>A p.L55= Synonymous 2/16 - 1
10-88123770-G-A c.163C>T p.L55= Synonymous 2/16 - 1
10-88123783-G-C c.150C>G p.L50= Synonymous 2/16 - 1
10-88123787-C-A c.146G>T p.S49I Missense 2/16 - 1
10-88123787-CT-AA c.145_146delinsTT p.S49F Missense 2/16 - 1
10-88123789-C-A c.144G>T p.L48= Synonymous 2/16 - 1
10-88123789-C-G c.144G>C p.L48= Synonymous 2/16 - 1
10-88123789-C-T c.144G>A p.L48= Synonymous 2/16 - 1
10-88123791-G-A c.142C>T p.L48= Synonymous 2/16 - 1
10-88123800-C-A c.133G>T p.V45L Missense 2/16 - 1
10-88123802-G-A c.131C>T p.A44V Missense 2/16 - 1
10-88123803-C-A c.130G>T p.A44S Missense 2/16 - 1
10-88123807-C-T c.126G>A p.Q42= Synonymous 2/16 - 1
10-88123815-C-A c.118G>T p.V40L Missense 2/16 - 5
10-88123815-C-G c.118G>C p.V40L Missense 2/16 - 8
10-88123816-C-A c.117G>T p.R39S Missense 2/16 - 1
10-88123816-CC-GA c.116_117delinsTC p.R39I Missense 2/16 - 1
10-88123816-C-G c.117G>C p.R39S Missense 2/16 - 1
10-88123821-C-T c.112G>A p.D38N Missense 2/16 - 1
10-88123822-G-C c.111C>G p.D37E Missense 2/16 - 1
10-88123825-C-T c.108G>A p.K36= Synonymous 2/16 - 1
10-88123826-T-C c.107A>G p.K36R Missense 2/16 - 1
10-88123829-G-A c.104C>T p.A35V Missense 2/16 - 1
10-88123830-C-A c.103G>T p.A35S Missense 2/16 - 2
10-88123832-G-A c.101C>T p.A34V Missense 2/16 - 1
10-88123832-G-T c.101C>A p.A34E Missense 2/16 - 1
10-88123834-G-C c.99C>G p.N33K Missense 2/16 - 1
10-88123834-G-T c.99C>A p.N33K Missense 2/16 - 1
10-88123837-C-G c.96G>C p.E32D Missense 2/16 - 1
10-88123840-C-A c.93G>T p.E31D Missense 2/16 - 1
10-88123842-C-T c.91G>A p.E31K Missense 2/16 - 1
10-88123843-G-A c.90C>T p.F30= Synonymous 2/16 - 4
10-88123850-G-A c.83C>T p.A28V Missense 2/16 - 2
10-88123850-G-C c.83C>G p.A28G Missense 2/16 - 2
10-88123851-C-A c.82G>T p.A28S Missense 2/16 - 1
10-88123951-G-A c.80-98C>T - IntronicSNV - 1/15 4
10-88125403-G-T c.79+668C>A - IntronicSNV - 1/15 1
10-88125407-A-C c.79+664T>G - IntronicSNV - 1/15 1
10-88125566-A-G c.79+505T>C - IntronicSNV - 1/15 1
10-88125834-C-A c.79+237G>T - IntronicSNV - 1/15 1
10-88125890-C-A c.79+181G>T - IntronicSNV - 1/15 3
10-88125912-G-A c.79+159C>T - IntronicSNV - 1/15 1
10-88125912-G-C c.79+159C>G - IntronicSNV - 1/15 3
10-88125912-G-T c.79+159C>A - IntronicSNV - 1/15 1
10-88125921-C-T c.79+150G>A - IntronicSNV - 1/15 1
10-88126056-T-G c.79+15A>C - IntronicSNV - 1/15 7
10-88126072-G-A c.78C>T p.I26= Synonymous 1/16 - 11
10-88126072-G-T c.78C>A p.I26= Synonymous 1/16 - 10
10-88126085-G-C c.65C>G p.S22C Missense 1/16 - 1
10-88126091-GC-AA c.58_59delinsTT p.A20F Missense 1/16 - 3
10-88126091-GC-CA c.58_59delinsTG p.A20C Missense 1/16 - 3
10-88126091-G-T c.59C>A p.A20D Missense 1/16 - 1
10-88126093-CCG-ACA c.55_57delinsTGT p.R19C Missense 1/16 - 1
10-88126094-C-T c.56G>A p.R19Q Missense 1/16 - 1
10-88126096-C-T c.54G>A p.V18= Synonymous 1/16 - 1
10-88126098-C-A c.52G>T p.V18L Missense 1/16 - 1
10-88126098-C-G c.52G>C p.V18L Missense 1/16 - 1
10-88126099-CG-AC c.50_51delinsGT p.S17C Missense 1/16 - 1
10-88126102-CAC-ACA c.46_48delinsTGT p.V16C Missense 1/16 - 1
10-88126104-C-T c.46G>A p.V16M Missense 1/16 - 1
10-88126106-C-T c.44G>A p.C15Y Missense 1/16 - 1
10-88126118-C-A c.32G>T p.W11L Missense 1/16 - 1
10-88126120-G-A c.30C>T p.P10= Synonymous 1/16 - 1
10-88126122-G-C c.28C>G p.P10A Missense 1/16 - 1
10-88126125-G-A c.25C>T p.L9F Missense 1/16 - 1
10-88126128-G-A c.22C>T p.L8F Missense 1/16 - 1
10-88126134-G-A c.16C>T p.L6= Synonymous 1/16 - 1
10-88126140-G-A c.10C>T p.L4= Synonymous 1/16 - 1
10-88126149-T-C c.1A>G p.M1? Missense 1/16 - 1
10-88126158-G-A c.-9C>T - 5-UTRSNV 1/16 - 1