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 |