PC pyruvate carboxylase

Annotation transcript: NM_001040716.2

1790 unique variant annotations were identified in 2541 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-66616376-G-C c.3531C>G p.I1177M Missense 23/23 - 1
11-66616386-A-T c.3521T>A p.I1174N Missense 23/23 - 1
11-66616414-C-A c.3493G>T p.D1165Y Missense 23/23 - 1
11-66616414-C-G c.3493G>C p.D1165H Missense 23/23 - 1
11-66616414-C-T c.3493G>A p.D1165N Missense 23/23 - 1
11-66616448-C-A c.3459G>T p.M1153I Missense 23/23 - 1
11-66616452-G-T c.3455C>A p.P1152H Missense 23/23 - 1
11-66616459-T-C c.3448A>G p.T1150A Missense 23/23 - 1
11-66616462-C-A c.3445G>T p.V1149L Missense 23/23 - 1
11-66616462-C-G c.3445G>C p.V1149L Missense 23/23 - 1
11-66616462-C-T c.3445G>A p.V1149M Missense 23/23 - 1
11-66616464-A-G c.3443T>C p.V1148A Missense 23/23 - 1
11-66616470-T-TC c.3436dup p.E1146Gfs*26 Frameshift 23/23 - 1
11-66616478-C-T c.3429G>A p.M1143I Missense 23/23 - 1
11-66616504-G-A c.3403C>T p.Q1135* Nonsense 23/23 - 1
11-66616507-C-T c.3400G>A p.G1134S Missense 23/23 - 1
11-66616512-G-C c.3395C>G p.A1132G Missense 23/23 - 1
11-66616537-T-G c.3370A>C p.K1124Q Missense 23/23 - 1
11-66616543-C-CG c.3363_3364insC p.D1122Rfs*50 Frameshift 23/23 - 1
11-66616545-A-C c.3362T>G p.I1121R Missense 23/23 - 1
11-66616545-TA-T c.3362del p.I1121Kfs*23 Frameshift 23/23 - 1
11-66616552-T-G c.3355A>C p.K1119Q Missense 23/23 - 4
11-66616560-AT-GC c.3346_3347delinsGC p.M1116A Missense 23/23 - 1
11-66616587-T-G c.3320A>C p.D1107A Missense 23/23 - 1
11-66616606-G-A c.3301C>T p.H1101Y Missense 23/23 - 2
11-66616606-G-C c.3301C>G p.H1101D Missense 23/23 - 2
11-66616607-GAA-CTC c.3298_3300delinsGAG p.F1100E Missense 23/23 - 1
11-66616608-AA-CC c.3298_3299delinsGG p.F1100G Missense 23/23 - 1
11-66616700-C-T c.3288+1G>A - IntronicSNV - 22/22 1
11-66616714-G-T c.3275C>A p.T1092N Missense 22/23 - 1
11-66616715-T-C c.3274A>G p.T1092A Missense 22/23 - 1
11-66616715-T-G c.3274A>C p.T1092P Missense 22/23 - 1
11-66616723-AC-TG c.3265_3266delinsCA p.V1089H Missense 22/23 - 1
11-66616726-A-G c.3263T>C p.L1088S Missense 22/23 - 1
11-66616744-C-G c.3245G>C p.G1082A Missense 22/23 - 1
11-66616768-CT-TG c.3220_3221delinsCA p.R1074Q Missense 22/23 - 1
11-66616775-C-T c.3214G>A p.G1072S Missense 22/23 - 1
11-66616786-A-G c.3203T>C p.L1068P Missense 22/23 - 1
11-66616800-CAG-AAA c.3187_3189delinsTTT p.L1063F Missense 22/23 - 1
11-66616806-T-C c.3183A>G p.K1061= Synonymous 22/23 - 1
11-66616808-T-G c.3181A>C p.K1061Q Missense 22/23 - 2
11-66616828-C-T c.3161G>A p.R1054Q Missense 22/23 - 1
11-66616834-AG-TA c.3154_3155delinsTA p.L1052* Nonsense 22/23 - 1
11-66617083-T-TG c.3145_3146insC p.E1049Afs*31 SpliceDonorInsertion 21/23 - 1
11-66617084-C-G c.3145G>C p.E1049Q Missense 21/23 - 1
11-66617089-T-A c.3140A>T p.E1047V Missense 21/23 - 1
11-66617104-G-C c.3125C>G p.P1042R Missense 21/23 - 1
11-66617102-TGGGTCCCTGCA-T c.3116_3126del p.L1039Qfs*7 Frameshift 21/23 - 1
11-66617107-C-G c.3122G>C p.G1041A Missense 21/23 - 1
11-66617125-GT-CA c.3103_3104delinsTG p.T1035C Missense 21/23 - 1
11-66617147-C-A c.3082G>T p.G1028C Missense 21/23 - 1
11-66617147-C-T c.3082G>A p.G1028S Missense 21/23 - 1
11-66617158-G-T c.3071C>A p.T1024N Missense 21/23 - 1
11-66617173-T-G c.3056A>C p.H1019P Missense 21/23 - 1
11-66617176-G-A c.3053C>T p.A1018V Missense 21/23 - 1
11-66617181-CAC-GAT c.3046_3048delinsATC p.V1016I Missense 21/23 - 3
11-66617182-A-C c.3047T>G p.V1016G Missense 21/23 - 4
11-66617184-A-C c.3045T>G p.D1015E Missense 21/23 - 1
11-66617184-A-T c.3045T>A p.D1015E Missense 21/23 - 1
11-66617188-G-A c.3041C>T p.P1014L Missense 21/23 - 1
11-66617195-T-C c.3034A>G p.M1012V Missense 21/23 - 1
11-66617196-A-C c.3033T>G p.A1011= Synonymous 21/23 - 1
11-66617196-A-G c.3033T>C p.A1011= Synonymous 21/23 - 1
11-66617196-A-T c.3033T>A p.A1011= Synonymous 21/23 - 1
11-66617197-GC-CA c.3031_3032delinsTG p.A1011C Missense 21/23 - 1
11-66617198-C-T c.3031G>A p.A1011T Missense 21/23 - 1
11-66617200-G-A c.3029C>T p.A1010V Missense 21/23 - 2
11-66617219-G-A c.3010C>T p.P1004S Missense 21/23 - 1
11-66617221-G-A c.3008C>T p.T1003M Missense 21/23 - 1
11-66617224-A-G c.3005T>C p.V1002A Missense 21/23 - 1
11-66617225-C-T c.3004G>A p.V1002M Missense 21/23 - 1
11-66617229-C-T c.3000G>A p.E1000= Synonymous 21/23 - 1
11-66617230-TC-AT c.2998_2999delinsAT p.E1000M Missense 21/23 - 4
11-66617232-C-A c.2997G>T p.G999= Synonymous 21/23 - 1
11-66617258-C-G c.2971G>C p.E991Q Missense 21/23 - 1
11-66617267-G-A c.2962C>T p.Q988* Nonsense 21/23 - 1
11-66617290-G-T c.2939C>A p.A980D Missense 21/23 - 1
11-66617302-CC-AG c.2926_2927delinsCT p.G976L Missense 21/23 - 2
11-66617302-CC-GG c.2926_2927inv p.G976P Missense 21/23 - 1
11-66617302-CC-TA c.2926_2927delinsTA p.G976* Nonsense 21/23 - 1
11-66617317-A-G c.2912T>C p.L971P Missense 21/23 - 1
11-66617322-CT-GA c.2906_2907delinsTC p.K969I Missense 21/23 - 1
11-66617322-CTT-ACA c.2905_2907delinsTGT p.K969C Missense 21/23 - 1
11-66617329-A-G c.2900T>C p.V967A Missense 21/23 - 2
11-66617437-C-G c.2869G>C p.G957R Missense 20/23 - 1
11-66617437-C-T c.2869G>A p.G957R Missense 20/23 - 1
11-66617439-TG-GC c.2866_2867delinsGC p.H956A Missense 20/23 - 1
11-66617457-CC-AA c.2848_2849delinsTT p.G950F Missense 20/23 - 1
11-66617458-C-A c.2848G>T p.G950C Missense 20/23 - 1
11-66617460-T-A c.2846A>T p.Q949L Missense 20/23 - 1
11-66617462-C-A c.2844G>T p.L948= Synonymous 20/23 - 1
11-66617468-C-T c.2838G>A p.E946= Synonymous 20/23 - 1
11-66617478-GA-CC c.2827_2828delinsGG p.S943G Missense 20/23 - 1
11-66617479-A-G c.2827T>C p.S943P Missense 20/23 - 1
11-66617490-G-A c.2816C>T p.S939F Missense 20/23 - 2
11-66617492-CAG-AAA c.2812_2814delinsTTT p.L938F Missense 20/23 - 1
11-66617501-CG-GT c.2804_2805delinsAC p.A935D Missense 20/23 - 1
11-66617502-G-A c.2804C>T p.A935V Missense 20/23 - 1
11-66617504-C-A c.2802G>T p.Q934H Missense 20/23 - 1
11-66617504-C-G c.2802G>C p.Q934H Missense 20/23 - 1
11-66617506-G-A c.2800C>T p.Q934* Nonsense 20/23 - 1
11-66617510-T-A c.2796A>T p.E932D Missense 20/23 - 1
11-66617510-T-G c.2796A>C p.E932D Missense 20/23 - 1
11-66617520-G-C c.2786C>G p.A929G Missense 20/23 - 1
11-66617523-C-G c.2783G>C p.R928P Missense 20/23 - 18
11-66617545-T-G c.2761A>C p.M921L Missense 20/23 - 1
11-66617547-AA-TG c.2758_2759delinsCA p.F920H Missense 20/23 - 1
11-66617551-G-A c.2755C>T p.Q919* Nonsense 20/23 - 1
11-66617551-G-C c.2755C>G p.Q919E Missense 20/23 - 1
11-66617553-G-C c.2753C>G p.A918G Missense 20/23 - 1
11-66617556-AG-GC c.2749_2750delinsGC p.L917A Missense 20/23 - 1
11-66617557-G-A c.2749C>T p.L917= Synonymous 20/23 - 1
11-66617562-C-G c.2744G>C p.G915A Missense 20/23 - 1
11-66617565-AC-GG c.2740_2741delinsCC p.V914P Missense 20/23 - 1
11-66617570-C-A c.2736G>T p.K912N Missense 20/23 - 1
11-66617570-C-G c.2736G>C p.K912N Missense 20/23 - 1
11-66617571-T-G c.2735A>C p.K912T Missense 20/23 - 1
11-66617572-TG-T c.2733del p.K912Rfs*15 Frameshift 20/23 - 1
11-66617575-A-C c.2731T>G p.S911A Missense 20/23 - 1
11-66617580-G-A c.2726C>T p.P909L Missense 20/23 - 1
11-66617582-C-T c.2724G>A p.T908= Synonymous 20/23 - 1
11-66617584-T-C c.2722A>G p.T908A Missense 20/23 - 1
11-66617696-T-G c.2713A>C p.I905L Missense 19/23 - 1
11-66617704-CC-AG c.2704_2705delinsCT p.G902L Missense 19/23 - 1
11-66617704-C-G c.2705G>C p.G902A Missense 19/23 - 1
11-66617705-C-T c.2704G>A p.G902S Missense 19/23 - 1
11-66617708-G-A c.2701C>T p.L901= Synonymous 19/23 - 1
11-66617718-GGC-TTA c.2689_2691delinsTAA p.A897* Nonsense 19/23 - 1
11-66617731-G-A c.2678C>T p.A893V Missense 19/23 - 1
11-66617732-C-A c.2677G>T p.A893S Missense 19/23 - 2
11-66617734-TT-GC c.2674_2675delinsGC p.K892A Missense 19/23 - 1
11-66617741-C-T c.2668G>A p.V890I Missense 19/23 - 1
11-66617747-T-G c.2662A>C p.K888Q Missense 19/23 - 1
11-66617748-GA-G c.2660del p.F887Sfs*21 Frameshift 19/23 - 1
11-66617755-G-A c.2654C>T p.S885F Missense 19/23 - 1
11-66617758-C-G c.2651G>C p.G884A Missense 19/23 - 1
11-66617779-T-C c.2630A>G p.Q877R Missense 19/23 - 1
11-66617781-G-C c.2628C>G p.F876L Missense 19/23 - 45
11-66617781-G-T c.2628C>A p.F876L Missense 19/23 - 45
11-66617783-A-G c.2626T>C p.F876L Missense 19/23 - 45
11-66617786-G-A c.2623C>T p.H875Y Missense 19/23 - 15
11-66617800-TG-GC c.2608_2609delinsGC p.Q870A Missense 19/23 - 1
11-66617803-C-T c.2606G>A p.G869D Missense 19/23 - 1
11-66617804-C-T c.2605G>A p.G869S Missense 19/23 - 1
11-66617827-A-T c.2582T>A p.V861E Missense 19/23 - 1
11-66617834-A-C c.2575T>G p.S859A Missense 19/23 - 1
11-66617839-C-G c.2570G>C p.G857A Missense 19/23 - 4
11-66617843-A-G c.2566T>C p.S856P Missense 19/23 - 1
11-66617845-TT-GC c.2563_2564delinsGC p.K855A Missense 19/23 - 1
11-66617862-G-C c.2547C>G p.D849E Missense 19/23 - 1
11-66617862-G-T c.2547C>A p.D849E Missense 19/23 - 1
11-66617869-G-A c.2540C>T p.A847V Missense 19/23 - 1
11-66617869-GC-CA c.2539_2540delinsTG p.A847C Missense 19/23 - 1
11-66617872-G-A c.2537C>T p.A846V Missense 19/23 - 1
11-66617877-CAG-AAA c.2530_2532delinsTTT p.L844F Missense 19/23 - 1
11-66617877-C-CA c.2531dup p.Y845Vfs*19 Frameshift 19/23 - 1
11-66617884-C-A c.2525G>T p.R842L Missense 19/23 - 1
11-66617884-C-T c.2525G>A p.R842Q Missense 19/23 - 1
11-66617903-C-T c.2506G>A p.E836K Missense 19/23 - 1
11-66617904-ACT-TCA c.2503_2505delinsTGA p.S835* Nonsense 19/23 - 1
11-66617908-TAGTCAA-T c.2495_2500del p.F832_D833del InFrameDeletion 19/23 - 1
11-66618159-G-A c.2459C>T p.T820I Missense 18/23 - 1
11-66618161-CCC-ACA c.2455_2457delinsTGT p.G819C Missense 18/23 - 1
11-66618162-C-G c.2456G>C p.G819A Missense 18/23 - 1
11-66618165-C-G c.2453G>C p.R818T Missense 18/23 - 1
11-66618174-GGC-G c.2443_2444del p.A815Lfs*18 Frameshift 18/23 - 1
11-66618185-C-A c.2433G>T p.G811= Synonymous 18/23 - 1
11-66618185-CCC-ACA c.2431_2433delinsTGT p.G811C Missense 18/23 - 1
11-66618185-C-G c.2433G>C p.G811= Synonymous 18/23 - 1
11-66618185-C-T c.2433G>A p.G811= Synonymous 18/23 - 1
11-66618186-C-G c.2432G>C p.G811A Missense 18/23 - 1
11-66618189-A-C c.2429T>G p.M810R Missense 18/23 - 1
11-66618189-A-G c.2429T>C p.M810T Missense 18/23 - 1
11-66618192-CT-GC c.2425_2426delinsGC p.S809A Missense 18/23 - 3
11-66618200-TG-AC c.2417_2418delinsGT p.S806C Missense 18/23 - 2
11-66618205-T-G c.2413A>C p.T805P Missense 18/23 - 1
11-66618218-GGA-CTC c.2398_2400delinsGAG p.S800E Missense 18/23 - 1
11-66618220-A-C c.2398T>G p.S800A Missense 18/23 - 2
11-66618228-G-A c.2390C>T p.A797V Missense 18/23 - 1
11-66618238-C-A c.2380G>T p.V794L Missense 18/23 - 1
11-66618241-C-T c.2377G>A p.V793M Missense 18/23 - 1
11-66618243-T-TC c.2374dup p.D792Gfs*8 Frameshift 18/23 - 1
11-66618244-C-CA c.2373dup p.D792* Nonsense 18/23 - 1
11-66618255-T-G c.2363A>C p.Q788P Missense 18/23 - 1
11-66618258-G-A c.2360C>T p.A787V Missense 18/23 - 1
11-66618276-G-A c.2342C>T p.A781V Missense 18/23 - 1
11-66618277-C-T c.2341G>A p.A781T Missense 18/23 - 1
11-66618282-C-T c.2336G>A p.G779D Missense 18/23 - 1
11-66618285-GC-AG c.2332_2333delinsCT p.A778L Missense 18/23 - 1
11-66618285-G-GC c.2332dup p.A778Gfs*15 Frameshift 18/23 - 1
11-66618290-TGA-GTC c.2326_2328delinsGAC p.S776D Missense 18/23 - 2
11-66618292-A-C c.2326T>G p.S776A Missense 18/23 - 3
11-66618300-T-G c.2318A>C p.H773P Missense 18/23 - 1
11-66618303-G-A c.2315C>T p.T772I Missense 18/23 - 1
11-66618307-G-A c.2311C>T p.H771Y Missense 18/23 - 1
11-66618318-G-T c.2300C>A p.P767Q Missense 18/23 - 1
11-66618327-G-A c.2291C>T p.P764L Missense 18/23 - 1
11-66618333-C-T c.2285G>A p.R762H Missense 18/23 - 1
11-66618336-T-G c.2282A>C p.D761A Missense 18/23 - 1
11-66618337-C-A c.2281G>T p.D761Y Missense 18/23 - 2
11-66618339-CCG-C c.2278_2279del p.R760Gfs*32 Frameshift 18/23 - 1
11-66618344-GGA-CTC c.2272_2274delinsGAG p.S758E Missense 18/23 - 1
11-66618346-A-C c.2272T>G p.S758A Missense 18/23 - 1
11-66618346-A-G c.2272T>C p.S758P Missense 18/23 - 1
11-66618361-GTGCAGGCCGTGGGCTTCA-G c.2240_2257del p.L747_T753delinsP MultiAAMissense 18/23 - 1
11-66618362-TGCAGGCCGTGGGCTTCAG-T c.2239_2256del p.L747_C752del InFrameDeletion 18/23 - 1
11-66618365-AGGCCGTGGGCTTCAG-A c.2239_2253del p.L747_A751del InFrameDeletion 18/23 - 1
11-66618365-AGGCCGTGGGCTTCAGCAG-A c.2236_2253del p.L746_A751del InFrameDeletion 18/23 - 1
11-66618366-GC-AA c.2251_2252delinsTT p.A751F Missense 18/23 - 1
11-66618366-GC-CG c.2251_2252delinsCG p.A751R Missense 18/23 - 1
11-66618366-GGCCGTGGGCTTCAGC-G c.2238_2252del p.L747_A751del InFrameDeletion 18/23 - 1
11-66618366-G-T c.2252C>A p.A751D Missense 18/23 - 1
11-66618368-CGT-ACA c.2248_2250delinsTGT p.T750C Missense 18/23 - 1
11-66618367-CCGTGGGCTTCAGCAG-C c.2236_2250del p.L746_T750del InFrameDeletion 18/23 - 1
11-66618381-AG-GC c.2236_2237delinsGC p.L746A Missense 18/23 - 2
11-66618381-CAG-C c.2236_2237del p.L746Afs*46 Frameshift 18/23 - 1
11-66618388-C-T c.2230G>A p.A744T Missense 18/23 - 1
11-66618389-C-A c.2229G>T p.M743I Missense 18/23 - 3
11-66618389-C-G c.2229G>C p.M743I Missense 18/23 - 3
11-66618389-C-T c.2229G>A p.M743I Missense 18/23 - 3
11-66618390-A-G c.2228T>C p.M743T Missense 18/23 - 1
11-66618518-CA-GC c.2215_2216delinsGC p.C739A Missense 17/23 - 1
11-66618522-G-A c.2212C>T p.L738= Synonymous 17/23 - 1
11-66618538-TCG-ACA c.2194_2196delinsTGT p.R732C Missense 17/23 - 1
11-66618539-CG-TT c.2194_2195delinsAA p.R732K Missense 17/23 - 1
11-66618540-G-C c.2194C>G p.R732G Missense 17/23 - 1
11-66618548-TC-AT c.2185_2186delinsAT p.E729M Missense 17/23 - 1
11-66618549-C-G c.2185G>C p.E729Q Missense 17/23 - 1
11-66618552-C-A c.2182G>T p.E728* Nonsense 17/23 - 1
11-66618561-C-A c.2173G>T p.G725C Missense 17/23 - 1
11-66618566-T-A c.2168A>T p.Y723F Missense 17/23 - 1
11-66618569-T-A c.2165A>T p.Y722F Missense 17/23 - 1
11-66618569-TA-GT c.2164_2165delinsAC p.Y722T Missense 17/23 - 2
11-66618571-C-T c.2163G>A p.Q721= Synonymous 17/23 - 1
11-66618574-CA-AT c.2159_2160delinsAT p.L720H Missense 17/23 - 1
11-66618581-TA-GT c.2152_2153delinsAC p.Y718T Missense 17/23 - 1
11-66618581-T-G c.2153A>C p.Y718S Missense 17/23 - 1
11-66618586-GG-CT c.2147_2148delinsAG p.T716K Missense 17/23 - 1
11-66618587-G-A c.2147C>T p.T716I Missense 17/23 - 58
11-66618587-G-C c.2147C>G p.T716S Missense 17/23 - 1
11-66618588-T-A c.2146A>T p.T716S Missense 17/23 - 1
11-66618591-G-A c.2143C>T p.R715C Missense 17/23 - 1
11-66618598-G-C c.2136C>G p.D712E Missense 17/23 - 3
11-66618598-G-T c.2136C>A p.D712E Missense 17/23 - 3
11-66618599-T-G c.2135A>C p.D712A Missense 17/23 - 2
11-66618602-GC-AG c.2131_2132delinsCT p.A711L Missense 17/23 - 1
11-66618602-GC-CA c.2131_2132delinsTG p.A711C Missense 17/23 - 1
11-66618603-C-G c.2131G>C p.A711P Missense 17/23 - 1
11-66618603-C-T c.2131G>A p.A711T Missense 17/23 - 1
11-66618607-G-C c.2127C>G p.D709E Missense 17/23 - 1
11-66618607-G-T c.2127C>A p.D709E Missense 17/23 - 1
11-66618611-CC-AT c.2122_2123delinsAT p.G708I Missense 17/23 - 1
11-66618611-CC-GG c.2122_2123inv p.G708P Missense 17/23 - 1
11-66618613-CGT-GTC c.2119_2121delinsGAC p.T707D Missense 17/23 - 1
11-66618614-CG-C c.2120del p.T707Rfs*41 Frameshift 17/23 - 1
11-66618614-G-A c.2120C>T p.T707M Missense 17/23 - 2
11-66618615-T-C c.2119A>G p.T707A Missense 17/23 - 1
11-66618623-AT-GC c.2110_2111delinsGC p.I704A Missense 17/23 - 1
11-66618623-AT-GG c.2110_2111delinsCC p.I704P Missense 17/23 - 1
11-66618628-AGC-TTA c.2104_2106delinsTAA p.A702* Nonsense 17/23 - 1
11-66618635-AC-GA c.2098_2099delinsTC p.V700S Missense 17/23 - 1
11-66618636-C-A c.2098G>T p.V700L Missense 17/23 - 1
11-66618636-C-G c.2098G>C p.V700L Missense 17/23 - 1
11-66618639-C-T c.2095G>A p.V699M Missense 17/23 - 1
11-66618642-C-T c.2092G>A p.G698S Missense 17/23 - 2
11-66618657-C-A c.2077G>T p.A693S Missense 17/23 - 1
11-66618657-C-T c.2077G>A p.A693T Missense 17/23 - 3
11-66618659-G-A c.2075C>T p.A692V Missense 17/23 - 1
11-66618659-G-C c.2075C>G p.A692G Missense 17/23 - 1
11-66618662-TC-GA c.2071_2072inv p.E691S Missense 17/23 - 8
11-66618672-G-T c.2062C>A p.L688M Missense 17/23 - 1
11-66618689-TA-CC c.2044_2045delinsGG p.Y682G Missense 17/23 - 2
11-66618700-G-C c.2034C>G p.D678E Missense 17/23 - 1
11-66618700-G-T c.2034C>A p.D678E Missense 17/23 - 1
11-66618702-C-G c.2032G>C p.D678H Missense 17/23 - 1
11-66618702-C-T c.2032G>A p.D678N Missense 17/23 - 1
11-66618709-AC-TT c.2024_2025delinsAA p.R675Q Missense 17/23 - 1
11-66618710-CG-GC c.2023_2024delinsGC p.R675A Missense 17/23 - 1
11-66618722-A-AT c.2011dup p.M671Nfs*8 Frameshift 17/23 - 1
11-66618723-T-A c.2011A>T p.M671L Missense 17/23 - 2
11-66618723-T-G c.2011A>C p.M671L Missense 17/23 - 2
11-66618724-GC-CT c.2009_2010delinsAG p.G670E Missense 17/23 - 1
11-66618725-C-A c.2009G>T p.G670V Missense 17/23 - 1
11-66618734-TT-GC c.1999_2000delinsGC p.K667A Missense 17/23 - 1
11-66618744-C-T c.1990G>A p.E664K Missense 17/23 - 1
11-66619261-TT-GC c.1981_1982delinsGC p.K661A Missense 16/23 - 1
11-66619273-TT-GC c.1969_1970delinsGC p.N657A Missense 16/23 - 1
11-66619274-T-A c.1969A>T p.N657Y Missense 16/23 - 1
11-66619276-T-G c.1967A>C p.D656A Missense 16/23 - 1
11-66619279-G-A c.1964C>T p.P655L Missense 16/23 - 1
11-66619291-TA-GC c.1951_1952delinsGC p.Y651A Missense 16/23 - 1
11-66619300-G-T c.1943C>A p.A648D Missense 16/23 - 1
11-66619303-T-C c.1940A>G p.N647S Missense 16/23 - 2
11-66619306-G-A c.1937C>T p.A646V Missense 16/23 - 1
11-66619306-G-T c.1937C>A p.A646D Missense 16/23 - 1
11-66619311-CCG-GCT c.1930_1932delinsAGC p.R644S Missense 16/23 - 1
11-66619312-CG-GC c.1930_1931delinsGC p.R644A Missense 16/23 - 1
11-66619312-CG-TT c.1930_1931delinsAA p.R644K Missense 16/23 - 1
11-66619323-TC-T c.1920del p.M641Cfs*107 Frameshift 16/23 - 1
11-66619325-G-A c.1918C>T p.Q640* Nonsense 16/23 - 3
11-66619330-G-A c.1913C>T p.P638L Missense 16/23 - 1
11-66619333-AT-GC c.1909_1910delinsGC p.I637A Missense 16/23 - 1
11-66619341-G-C c.1902C>G p.I634M Missense 16/23 - 1
11-66619347-C-T c.1896G>A p.E632= Synonymous 16/23 - 1
11-66619349-C-CG c.1893_1894insC p.E632Rfs*33 Frameshift 16/23 - 1
11-66619351-C-T c.1892G>A p.R631Q Missense 16/23 - 3
11-66619354-AG-CA c.1888_1889delinsTG p.L630C Missense 16/23 - 1
11-66619356-C-A c.1887G>T p.E629D Missense 16/23 - 1
11-66619356-C-G c.1887G>C p.E629D Missense 16/23 - 1
11-66619358-C-T c.1885G>A p.E629K Missense 16/23 - 1
11-66619361-G-C c.1882C>G p.Q628E Missense 16/23 - 1
11-66619361-G-T c.1882C>A p.Q628K Missense 16/23 - 1
11-66619363-A-G c.1880T>C p.L627P Missense 16/23 - 1
11-66619363-AG-TC c.1879_1880delinsGA p.L627E Missense 16/23 - 1
11-66619366-CG-GC c.1876_1877delinsGC p.R626A Missense 16/23 - 1
11-66619367-G-A c.1876C>T p.R626W Missense 16/23 - 1
11-66619368-CCG-ACA c.1873_1875delinsTGT p.R625C Missense 16/23 - 1
11-66619369-C-T c.1874G>A p.R625Q Missense 16/23 - 1
11-66619376-G-A c.1867C>T p.P623S Missense 16/23 - 1
11-66619378-CA-GC c.1864_1865delinsGC p.C622A Missense 16/23 - 1
11-66619391-A-G c.1852T>C p.F618L Missense 16/23 - 1
11-66619404-G-A c.1839C>T p.D613= Synonymous 16/23 - 1
11-66619405-T-G c.1838A>C p.D613A Missense 16/23 - 1
11-66619406-C-G c.1837G>C p.D613H Missense 16/23 - 1
11-66619410-CG-GT c.1832_1833delinsAC p.T611N Missense 16/23 - 1
11-66619414-G-A c.1829C>T p.A610V Missense 16/23 - 1
11-66619415-C-T c.1828G>A p.A610T Missense 16/23 - 5
11-66619905-C-T c.1825+5G>A - IntronicSNV - 15/22 1
11-66619911-T-A c.1824A>T p.G608= Synonymous 15/23 - 2
11-66619911-T-C c.1824A>G p.G608= Synonymous 15/23 - 2
11-66619911-TC-GT c.1823_1824delinsAC p.G608D Missense 15/23 - 1
11-66619911-T-G c.1824A>C p.G608= Synonymous 15/23 - 2
11-66619913-C-T c.1822G>A p.G608R Missense 15/23 - 1
11-66619917-G-C c.1818C>G p.N606K Missense 15/23 - 1
11-66619917-G-T c.1818C>A p.N606K Missense 15/23 - 1
11-66619927-CT-GC c.1807_1808delinsGC p.S603A Missense 15/23 - 1
11-66619929-G-T c.1806C>A p.F602L Missense 15/23 - 2
11-66619929-G-C c.1806C>G p.F602L Missense 15/23 - 1
11-66619931-A-G c.1804T>C p.F602L Missense 15/23 - 1
11-66619933-A-G c.1802T>C p.L601P Missense 15/23 - 1
11-66619934-G-C c.1801C>G p.L601V Missense 15/23 - 1
11-66619938-G-A c.1797C>T p.S599= Synonymous 15/23 - 1
11-66619946-T-A c.1789A>T p.N597Y Missense 15/23 - 1
11-66619949-G-A c.1786C>T p.H596Y Missense 15/23 - 1
11-66619952-C-T c.1783G>A p.A595T Missense 15/23 - 1
11-66619956-A-AT c.1778dup p.Y593* Nonsense 15/23 - 1
11-66619965-GA-CT c.1769_1770delinsAG p.I590K Missense 15/23 - 1
11-66619966-AT-TC c.1768_1769delinsGA p.I590D Missense 15/23 - 1
11-66619969-TT-GC c.1765_1766delinsGC p.K589A Missense 15/23 - 1
11-66619970-T-G c.1765A>C p.K589Q Missense 15/23 - 1
11-66619971-TTT-GTC c.1762_1764delinsGAC p.K588D Missense 15/23 - 1
11-66619972-T-C c.1763A>G p.K588R Missense 15/23 - 1
11-66619972-TT-GC c.1762_1763delinsGC p.K588A Missense 15/23 - 1
11-66619973-T-A c.1762A>T p.K588* Nonsense 15/23 - 1
11-66619982-G-A c.1753C>T p.H585Y Missense 15/23 - 1
11-66619987-C-T c.1748G>A p.R583H Missense 15/23 - 1
11-66619990-A-G c.1745T>C p.V582A Missense 15/23 - 1
11-66619992-ACG-TCA c.1741_1743delinsTGA p.R581* Nonsense 15/23 - 1
11-66619993-CG-GC c.1741_1742delinsGC p.R581A Missense 15/23 - 1
11-66619997-T-C c.1738A>G p.T580A Missense 15/23 - 1
11-66620002-AG-GC c.1732_1733delinsGC p.L578A Missense 15/23 - 1
11-66620016-G-A c.1719C>T p.A573= Synonymous 15/23 - 1
11-66620023-CT-GC c.1711_1712delinsGC p.R571A Missense 15/23 - 1
11-66620023-CT-TA c.1711_1712delinsTA p.R571* Nonsense 15/23 - 1
11-66620030-T-C c.1705A>G p.T569A Missense 15/23 - 1
11-66620033-T-C c.1702A>G p.T568A Missense 15/23 - 1
11-66620035-T-A c.1700A>T p.D567V Missense 15/23 - 1
11-66620039-T-A c.1696A>T p.M566L Missense 15/23 - 1
11-66620039-T-C c.1696A>G p.M566V Missense 15/23 - 1
11-66620039-T-G c.1696A>C p.M566L Missense 15/23 - 1
11-66620044-A-G c.1691T>C p.L564P Missense 15/23 - 1
11-66620049-CCC-ACA c.1684_1686delinsTGT p.G562C Missense 15/23 - 1
11-66620054-G-A c.1681C>T p.P561S Missense 15/23 - 1
11-66620054-G-T c.1681C>A p.P561T Missense 15/23 - 1
11-66620061-CC-AT c.1673_1674delinsAT p.R558H Missense 15/23 - 1
11-66620065-A-T c.1670T>A p.V557E Missense 15/23 - 1
11-66620068-GC-CA c.1666_1667delinsTG p.A556C Missense 15/23 - 1
11-66620070-TC-AT c.1664_1665delinsAT p.R555H Missense 15/23 - 1
11-66620070-TCG-GTC c.1663_1665delinsGAC p.R555D Missense 15/23 - 1
11-66620074-G-A c.1661C>T p.A554V Missense 15/23 - 1
11-66620081-C-T c.1654G>A p.G552S Missense 15/23 - 1
11-66620083-T-G c.1652A>C p.E551A Missense 15/23 - 2
11-66620083-T-TC c.1651dup p.E551Gfs*63 Frameshift 15/23 - 1
11-66620089-C-G c.1646G>C p.G549A Missense 15/23 - 1
11-66620092-T-G c.1643A>C p.E548A Missense 15/23 - 1
11-66620095-C-CG c.1639dup p.R547Pfs*5 Frameshift 15/23 - 1
11-66620097-CAG-ACA c.1636_1638delinsTGT p.L546C Missense 15/23 - 1
11-66620106-G-T c.1629C>A p.D543E Missense 15/23 - 1
11-66620110-CT-GC c.1624_1625delinsGC p.R542A Missense 15/23 - 1
11-66620116-C-A c.1619G>T p.G540V Missense 15/23 - 1
11-66620120-C-A c.1615G>T p.A539S Missense 15/23 - 1
11-66620120-C-T c.1615G>A p.A539T Missense 15/23 - 4
11-66620122-G-T c.1613C>A p.P538Q Missense 15/23 - 1
11-66620123-G-A c.1612C>T p.P538S Missense 15/23 - 2
11-66620124-G-T c.1611C>A p.P537= Synonymous 15/23 - 2
11-66620129-G-A c.1606C>T p.P536S Missense 15/23 - 2
11-66620129-G-C c.1606C>G p.P536A Missense 15/23 - 1
11-66620130-G-T c.1605C>A p.G535= Synonymous 15/23 - 1
11-66620224-G-C c.1597C>G p.P533A Missense 14/23 - 1
11-66620232-G-A c.1589C>T p.P530L Missense 14/23 - 1
11-66620235-AC-TT c.1585_1586delinsAA p.V529N Missense 14/23 - 1
11-66620235-A-G c.1586T>C p.V529A Missense 14/23 - 1
11-66620241-G-A c.1580C>T p.P527L Missense 14/23 - 2
11-66620241-G-T c.1580C>A p.P527H Missense 14/23 - 1
11-66620252-GCT-CCA c.1567_1569delinsTGG p.S523W Missense 14/23 - 1
11-66620256-G-C c.1565C>G p.P522R Missense 14/23 - 2
11-66620256-GG-CA c.1564_1565delinsTG p.P522C Missense 14/23 - 1
11-66620256-GG-CC c.1564_1565inv p.P522G Missense 14/23 - 1
11-66620259-C-G c.1562G>C p.S521T Missense 14/23 - 1
11-66620262-G-A c.1559C>T p.A520V Missense 14/23 - 1
11-66620263-C-A c.1558G>T p.A520S Missense 14/23 - 3
11-66620264-CTT-ACA c.1555_1557delinsTGT p.K519C Missense 14/23 - 1
11-66620266-T-C c.1555A>G p.K519E Missense 14/23 - 1
11-66620269-C-T c.1552G>A p.V518I Missense 14/23 - 1
11-66620270-GG-TT c.1550_1551delinsAA p.P517Q Missense 14/23 - 1
11-66620271-G-A c.1550C>T p.P517L Missense 14/23 - 1
11-66620274-AT-CA c.1546_1547delinsTG p.I516C Missense 14/23 - 1
11-66620276-CGG-AAA c.1543_1545delinsTTT p.P515F Missense 14/23 - 1
11-66620278-G-C c.1543C>G p.P515A Missense 14/23 - 3
11-66620285-T-A c.1536A>T p.P512= Synonymous 14/23 - 1
11-66620285-T-C c.1536A>G p.P512= Synonymous 14/23 - 1
11-66620285-T-G c.1536A>C p.P512= Synonymous 14/23 - 1
11-66620289-C-T c.1532G>A p.G511D Missense 14/23 - 2
11-66620290-C-G c.1531G>C p.G511R Missense 14/23 - 1
11-66620292-TT-AC c.1528_1529delinsGT p.N510V Missense 14/23 - 1
11-66620293-T-A c.1528A>T p.N510Y Missense 14/23 - 1
11-66620294-TAC-CAT c.1525_1527delinsATG p.V509M Missense 14/23 - 1
11-66620296-C-T c.1525G>A p.V509I Missense 14/23 - 1
11-66620298-A-G c.1523T>C p.M508T Missense 14/23 - 1
11-66620300-GAC-CAT c.1519_1521delinsATG p.V507M Missense 14/23 - 1
11-66620712-AG-CT c.1510_1511inv p.L504S Missense 13/23 - 1
11-66620712-AG-GC c.1510_1511delinsGC p.L504A Missense 13/23 - 1
11-66620712-AG-TA c.1510_1511delinsTA p.L504Y Missense 13/23 - 1
11-66620719-G-A c.1504C>T p.H502Y Missense 13/23 - 1
11-66620729-T-A c.1494A>T p.Q498H Missense 13/23 - 2
11-66620729-T-G c.1494A>C p.Q498H Missense 13/23 - 2
11-66620729-TTG-ATA c.1492_1494delinsTAT p.Q498Y Missense 13/23 - 3
11-66620730-T-C c.1493A>G p.Q498R Missense 13/23 - 24
11-66620733-GC-CA c.1489_1490delinsTG p.A497C Missense 13/23 - 1
11-66620735-CC-AT c.1487_1488delinsAT p.R496H Missense 13/23 - 4
11-66620736-CG-TA c.1486_1487delinsTA p.R496* Nonsense 13/23 - 1
11-66620736-C-T c.1487G>A p.R496Q Missense 13/23 - 1
11-66620757-CTGG-C c.1464_1466del p.F488_Q489delinsL MultiAAMissense 13/23 - 1
11-66620757-T-C c.1466A>G p.Q489R Missense 13/23 - 2
11-66620770-G-A c.1453C>T p.P485S Missense 13/23 - 1
11-66620777-G-C c.1446C>G p.D482E Missense 13/23 - 1
11-66620777-G-T c.1446C>A p.D482E Missense 13/23 - 1
11-66620778-TC-CA c.1444_1445delinsTG p.D482C Missense 13/23 - 1
11-66620779-C-T c.1444G>A p.D482N Missense 13/23 - 1
11-66620781-A-T c.1442T>A p.I481N Missense 13/23 - 1
11-66620788-G-C c.1435C>G p.Q479E Missense 13/23 - 1
11-66620789-GG-CC c.1433_1434inv p.T478R Missense 13/23 - 4
11-66620789-GG-CT c.1433_1434delinsAG p.T478K Missense 13/23 - 117
11-66620790-G-A c.1433C>T p.T478I Missense 13/23 - 6
11-66620790-G-C c.1433C>G p.T478S Missense 13/23 - 1
11-66620791-T-A c.1432A>T p.T478S Missense 13/23 - 1
11-66620791-T-C c.1432A>G p.T478A Missense 13/23 - 1
11-66620791-T-G c.1432A>C p.T478P Missense 13/23 - 1
11-66620793-T-C c.1430A>G p.D477G Missense 13/23 - 1
11-66620794-C-T c.1429G>A p.D477N Missense 13/23 - 1
11-66620796-A-G c.1427T>C p.V476A Missense 13/23 - 1
11-66620799-G-A c.1424C>T p.T475I Missense 13/23 - 1
11-66620805-G-A c.1418C>T p.A473V Missense 13/23 - 1
11-66620805-G-GC c.1417dup p.A473Gfs*79 Frameshift 13/23 - 1
11-66620807-CAG-AAA c.1414_1416delinsTTT p.L472F Missense 13/23 - 1
11-66620808-A-G c.1415T>C p.L472P Missense 13/23 - 1
11-66620823-TT-GC c.1399_1400delinsGC p.N467A Missense 13/23 - 1
11-66620827-AG-A c.1396del p.L466Sfs*44 Frameshift 13/23 - 1
11-66620833-T-G c.1390A>C p.N464H Missense 13/23 - 1
11-66620838-A-T c.1385T>A p.L462Q Missense 13/23 - 1
11-66620839-G-C c.1384C>G p.L462V Missense 13/23 - 1
11-66620840-GA-TT c.1382_1383delinsAA p.F461* Nonsense 13/23 - 1
11-66620849-G-A c.1374C>T p.N458= Synonymous 13/23 - 1
11-66620850-T-A c.1373A>T p.N458I Missense 13/23 - 3
11-66620851-T-A c.1372A>T p.N458Y Missense 13/23 - 5
11-66621383-C-T c.1369-529G>A - IntronicSNV - 12/22 1
11-66626234-T-C c.1368+5011A>G - IntronicSNV - 12/22 3
11-66631245-CTT-GTC c.1366_1368delinsGAC p.K456D Missense 12/23 - 1
11-66631252-CC-GT c.1360_1361delinsAC p.G454T Missense 12/23 - 1
11-66631254-TC-AT c.1358_1359delinsAT p.R453H Missense 12/23 - 1
11-66631254-TCG-ACA c.1357_1359delinsTGT p.R453C Missense 12/23 - 2
11-66631255-CG-GC c.1357_1358delinsGC p.R453A Missense 12/23 - 1
11-66631256-G-A c.1357C>T p.R453* Nonsense 12/23 - 1
11-66631257-GAC-CAT c.1354_1356delinsATG p.V452M Missense 12/23 - 2
11-66631258-A-G c.1355T>C p.V452A Missense 12/23 - 2
11-66631258-A-T c.1355T>A p.V452D Missense 12/23 - 1
11-66631260-GCG-TCA c.1351_1353delinsTGA p.R451* Nonsense 12/23 - 2
11-66631261-CG-GC c.1351_1352delinsGC p.R451A Missense 12/23 - 2
11-66631262-G-A c.1351C>T p.R451C Missense 12/23 - 11
11-66631263-G-GA c.1349dup p.R451Pfs*101 Frameshift 12/23 - 1
11-66631265-ACTC-A c.1345_1347del p.E449del InFrameDeletion 12/23 - 1
11-66631269-CG-GT c.1343_1344delinsAC p.A448D Missense 12/23 - 1
11-66631270-G-A c.1343C>T p.A448V Missense 12/23 - 1
11-66631270-G-C c.1343C>G p.A448G Missense 12/23 - 1
11-66631274-G-GA c.1338_1339insT p.L447Sfs*105 Frameshift 12/23 - 1
11-66631276-G-A c.1337C>T p.A446V Missense 12/23 - 2
11-66631276-G-C c.1337C>G p.A446G Missense 12/23 - 1
11-66631277-C-A c.1336G>T p.A446S Missense 12/23 - 2
11-66631278-CCT-ATG c.1333_1335delinsCAT p.R445H Missense 12/23 - 1
11-66631280-T-A c.1333A>T p.R445W Missense 12/23 - 1
11-66631282-CT-GC c.1330_1331delinsGC p.S444A Missense 12/23 - 1
11-66631289-T-C c.1324A>G p.K442E Missense 12/23 - 1
11-66631290-G-T c.1323C>A p.T441= Synonymous 12/23 - 1
11-66631294-G-A c.1319C>T p.A440V Missense 12/23 - 1
11-66631294-GC-CA c.1318_1319delinsTG p.A440C Missense 12/23 - 1
11-66631297-GC-CA c.1315_1316delinsTG p.A439C Missense 12/23 - 1
11-66631300-G-A c.1313C>T p.T438M Missense 12/23 - 1
11-66631303-G-T c.1310C>A p.P437H Missense 12/23 - 1
11-66631309-T-C c.1304A>G p.D435G Missense 12/23 - 1
11-66631309-TC-AT c.1303_1304delinsAT p.D435I Missense 12/23 - 12
11-66631310-C-A c.1303G>T p.D435Y Missense 12/23 - 1
11-66631313-T-G c.1300A>C p.K434Q Missense 12/23 - 1
11-66631316-C-T c.1297G>A p.G433S Missense 12/23 - 2
11-66631321-G-A c.1292C>T p.A431V Missense 12/23 - 1
11-66631324-AT-CA c.1288_1289delinsTG p.I430C Missense 12/23 - 1
11-66631329-TTT-GTC c.1282_1284delinsGAC p.K428D Missense 12/23 - 1
11-66631334-C-CAGTA c.1278_1279insTACT p.V427Yfs*126 Frameshift 12/23 - 1
11-66631336-A-G c.1277T>C p.L426P Missense 12/23 - 1
11-66631339-A-C c.1274T>G p.L425R Missense 12/23 - 2
11-66631357-G-A c.1256C>T p.S419L Missense 12/23 - 1
11-66631360-A-T c.1253T>A p.I418N Missense 12/23 - 1
11-66631361-T-C c.1252A>G p.I418V Missense 12/23 - 1
11-66631362-GAC-CTT c.1249_1251delinsAAG p.V417K Missense 12/23 - 1
11-66631363-ACGG-A c.1247_1249del p.A416del InFrameDeletion 12/23 - 1
11-66631367-C-A c.1246G>T p.A416S Missense 12/23 - 2
11-66631367-C-G c.1246G>C p.A416P Missense 12/23 - 1
11-66631368-T-G c.1245A>C p.G415= Synonymous 12/23 - 1
11-66631372-T-C c.1241A>G p.Q414R Missense 12/23 - 1
11-66631373-G-A c.1240C>T p.Q414* Nonsense 12/23 - 3
11-66631373-G-C c.1240C>G p.Q414E Missense 12/23 - 3
11-66631373-G-T c.1240C>A p.Q414K Missense 12/23 - 1
11-66631376-A-AG c.1236dup p.F413Lfs*139 Frameshift 12/23 - 1
11-66631378-GC-CA c.1234_1235delinsTG p.A412C Missense 12/23 - 1
11-66631379-C-G c.1234G>C p.A412P Missense 12/23 - 3
11-66631379-C-T c.1234G>A p.A412T Missense 12/23 - 1
11-66631387-TT-GC c.1225_1226delinsGC p.N409A Missense 12/23 - 1
11-66631391-C-A c.1222G>T p.D408Y Missense 12/23 - 1
11-66631391-C-G c.1222G>C p.D408H Missense 12/23 - 1
11-66631391-C-T c.1222G>A p.D408N Missense 12/23 - 1
11-66631395-GCG-CCA c.1216_1218delinsTGG p.R406W Missense 12/23 - 16
11-66631396-C-A c.1217G>T p.R406L Missense 12/23 - 1
11-66631397-G-A c.1216C>T p.R406C Missense 12/23 - 2
11-66631400-T-C c.1213A>G p.I405V Missense 12/23 - 3
11-66631400-T-G c.1213A>C p.I405L Missense 12/23 - 1
11-66631404-C-G c.1209G>C p.M403I Missense 12/23 - 1
11-66631405-CA-C c.1208del p.M403Rfs*41 Frameshift 12/23 - 1
11-66631406-T-TC c.1206_1207insG p.M403Dfs*7 Frameshift 12/23 - 1
11-66631407-GCC-TCA c.1204_1206delinsTGA p.G402* Nonsense 12/23 - 1
11-66631408-C-G c.1205G>C p.G402A Missense 12/23 - 1
11-66631409-C-A c.1204G>T p.G402C Missense 12/23 - 1
11-66631410-C-A c.1203G>T p.E401D Missense 12/23 - 1
11-66631410-C-G c.1203G>C p.E401D Missense 12/23 - 1
11-66631410-CTC-ATG c.1201_1203delinsCAT p.E401H Missense 12/23 - 1
11-66631411-T-G c.1202A>C p.E401A Missense 12/23 - 2
11-66631414-C-A c.1199G>T p.G400V Missense 12/23 - 2
11-66631416-GCT-TCA c.1195_1197delinsTGA p.S399* Nonsense 12/23 - 1
11-66631417-C-T c.1196G>A p.S399N Missense 12/23 - 2
11-66631417-CT-GG c.1195_1196delinsCC p.S399P Missense 12/23 - 1
11-66631419-CCG-ACA c.1192_1194delinsTGT p.R398C Missense 12/23 - 1
11-66631419-CCG-GAT c.1192_1194delinsATC p.R398I Missense 12/23 - 2
11-66631420-CG-GC c.1192_1193delinsGC p.R398A Missense 12/23 - 2
11-66631420-CG-TC c.1192_1193delinsGA p.R398E Missense 12/23 - 2
11-66631420-C-T c.1193G>A p.R398Q Missense 12/23 - 6
11-66631421-G-A c.1192C>T p.R398W Missense 12/23 - 2
11-66631427-C-G c.1186G>C p.V396L Missense 12/23 - 1
11-66633644-C-T c.1185+14G>A - IntronicSNV - 11/22 1
11-66633658-CTC-ACA c.1183_1185delinsTGT p.E395C Missense 11/23 - 1
11-66633662-A-G c.1181T>C p.I394T Missense 11/23 - 1
11-66633664-GCG-CCA c.1177_1179delinsTGG p.R393W Missense 11/23 - 1
11-66633665-C-A c.1178G>T p.R393L Missense 11/23 - 1
11-66633665-CG-GC c.1177_1178delinsGC p.R393A Missense 11/23 - 1
11-66633666-G-A c.1177C>T p.R393C Missense 11/23 - 1
11-66633666-G-T c.1177C>A p.R393S Missense 11/23 - 1
11-66633667-GC-CT c.1175_1176delinsAG p.G392E Missense 11/23 - 2
11-66633668-CC-GT c.1174_1175delinsAC p.G392T Missense 11/23 - 1
11-66633668-C-T c.1175G>A p.G392D Missense 11/23 - 2
11-66633669-C-G c.1174G>C p.G392R Missense 11/23 - 1
11-66633669-C-T c.1174G>A p.G392S Missense 11/23 - 2
11-66633675-C-G c.1168G>C p.D390H Missense 11/23 - 1
11-66633681-G-A c.1162C>T p.Q388* Nonsense 11/23 - 1
11-66633681-G-C c.1162C>G p.Q388E Missense 11/23 - 1
11-66633681-TGGAAGCTGCGCGCGGGGTC-T c.1144_1162del p.D382Sfs*56 Frameshift 11/23 - 1
11-66633683-AA-GC c.1159_1160delinsGC p.F387A Missense 11/23 - 1
11-66633683-A-G c.1160T>C p.F387S Missense 11/23 - 1
11-66633688-GCG-TCA c.1153_1155delinsTGA p.R385* Nonsense 11/23 - 1
11-66633689-C-T c.1154G>A p.R385H Missense 11/23 - 1
11-66633690-G-A c.1153C>T p.R385C Missense 11/23 - 2
11-66633692-G-C c.1151C>G p.A384G Missense 11/23 - 1
11-66633693-C-A c.1150G>T p.A384S Missense 11/23 - 3
11-66633695-G-A c.1148C>T p.P383L Missense 11/23 - 2
11-66633699-C-A c.1144G>T p.D382Y Missense 11/23 - 1
11-66633701-TC-GT c.1141_1142delinsAC p.E381T Missense 11/23 - 1
11-66633702-TC-T c.1141del p.E381Rfs*63 Frameshift 11/23 - 1
11-66633704-G-A c.1139C>T p.T380I Missense 11/23 - 1
11-66633705-T-C c.1138A>G p.T380A Missense 11/23 - 5
11-66633708-T-C c.1135A>G p.T379A Missense 11/23 - 3
11-66633710-A-T c.1133T>A p.V378D Missense 11/23 - 1
11-66633711-C-G c.1132G>C p.V378L Missense 11/23 - 1
11-66633711-C-T c.1132G>A p.V378I Missense 11/23 - 1
11-66633712-CCG-GTT c.1129_1131delinsAAC p.R377N Missense 11/23 - 1
11-66633713-CG-TA c.1129_1130delinsTA p.R377* Nonsense 11/23 - 1
11-66633714-G-A c.1129C>T p.R377W Missense 11/23 - 4
11-66633716-CA-GT c.1126_1127delinsAC p.C376T Missense 11/23 - 2
11-66633720-G-A c.1123C>T p.Q375* Nonsense 11/23 - 1
11-66633720-G-C c.1123C>G p.Q375E Missense 11/23 - 1
11-66633721-G-A c.1122C>T p.I374= Synonymous 11/23 - 1
11-66633725-G-A c.1118C>T p.A373V Missense 11/23 - 2
11-66633725-G-T c.1118C>A p.A373D Missense 11/23 - 1
11-66633726-C-T c.1117G>A p.A373T Missense 11/23 - 2
11-66633732-C-T c.1111G>A p.G371R Missense 11/23 - 1
11-66633733-G-A c.1110C>T p.N370= Synonymous 11/23 - 1
11-66633734-T-C c.1109A>G p.N370S Missense 11/23 - 68
11-66633734-T-G c.1109A>C p.N370T Missense 11/23 - 1
11-66633736-G-A c.1107C>T p.I369= Synonymous 11/23 - 1
11-66633736-G-T c.1107C>A p.I369= Synonymous 11/23 - 1
11-66633739-GCG-TCA c.1102_1104delinsTGA p.R368* Nonsense 11/23 - 1
11-66633741-G-A c.1102C>T p.R368C Missense 11/23 - 1
11-66633743-A-C c.1100T>G p.I367S Missense 11/23 - 1
11-66633743-AT-CA c.1099_1100delinsTG p.I367C Missense 11/23 - 3
11-66633743-GA-G c.1100del p.I367Tfs*77 Frameshift 11/23 - 1
11-66633744-T-A c.1099A>T p.I367F Missense 11/23 - 1
11-66633746-T-C c.1097A>G p.N366S Missense 11/23 - 1
11-66633746-TT-CA c.1096_1097delinsTG p.N366C Missense 11/23 - 1
11-66633749-T-C c.1094A>G p.E365G Missense 11/23 - 1
11-66633749-T-G c.1094A>C p.E365A Missense 11/23 - 2
11-66633753-G-A c.1090C>T p.Q364* Nonsense 11/23 - 1
11-66633754-CC-AT c.1088_1089delinsAT p.R363H Missense 11/23 - 3
11-66633754-CCG-ACA c.1087_1089delinsTGT p.R363C Missense 11/23 - 1
11-66633755-CG-TT c.1087_1088delinsAA p.R363K Missense 11/23 - 1
11-66633762-C-A c.1081G>T p.G361C Missense 11/23 - 1
11-66633766-G-A c.1077C>T p.D359= Synonymous 11/23 - 1
11-66633767-TC-CG c.1075_1076delinsCG p.D359R Missense 11/23 - 1
11-66633767-T-G c.1076A>C p.D359A Missense 11/23 - 2
11-66633768-C-T c.1075G>A p.D359N Missense 11/23 - 1
11-66633771-G-A c.1072C>T p.P358S Missense 11/23 - 1
11-66633773-AG-CC c.1069_1070delinsGG p.L357G Missense 11/23 - 1
11-66633775-G-GCGTCT c.1067_1068insAGACG p.S356Rfs*90 Frameshift 11/23 - 1
11-66633776-C-A c.1067G>T p.S356I Missense 11/23 - 1
11-66633781-GC-CT c.1061_1062delinsAG p.G354E Missense 11/23 - 1
11-66633782-C-G c.1061G>C p.G354A Missense 11/23 - 2
11-66633783-C-T c.1060G>A p.G354S Missense 11/23 - 1
11-66633781-GC-G c.1061del p.G354Afs*90 Frameshift 11/23 - 1
11-66633785-T-G c.1058A>C p.E353A Missense 11/23 - 2
11-66633786-C-G c.1057G>C p.E353Q Missense 11/23 - 1
11-66633791-A-G c.1052T>C p.V351A Missense 11/23 - 1
11-66633802-AG-CT c.1040_1041inv p.A347E Missense 11/23 - 1
11-66633805-A-C c.1038T>G p.H346Q Missense 11/23 - 1
11-66633805-A-T c.1038T>A p.H346Q Missense 11/23 - 1
11-66633808-G-A c.1035C>T p.V345= Synonymous 11/23 - 1
11-66633808-G-C c.1035C>G p.V345= Synonymous 11/23 - 1
11-66633808-G-T c.1035C>A p.V345= Synonymous 11/23 - 1
11-66633810-C-G c.1033G>C p.V345L Missense 11/23 - 2
11-66633811-CAG-AAA c.1030_1032delinsTTT p.L344F Missense 11/23 - 1
11-66633812-A-G c.1031T>C p.L344P Missense 11/23 - 1
11-66633831-T-C c.1023-11A>G - IntronicSNV - 10/22 1
11-66634397-C-T c.1023-577G>A - IntronicSNV - 10/22 1
11-66636320-G-A c.1019C>T p.T340I Missense 10/23 - 2
11-66636320-G-T c.1019C>A p.T340N Missense 10/23 - 1
11-66636321-T-C c.1018A>G p.T340A Missense 10/23 - 1
11-66636323-AT-GC c.1015_1016delinsGC p.I339A Missense 10/23 - 1
11-66636324-T-A c.1015A>T p.I339F Missense 10/23 - 1
11-66636327-C-G c.1012G>C p.E338Q Missense 10/23 - 1
11-66636335-A-C c.1004T>G p.V335G Missense 10/23 - 1
11-66636337-CG-GA c.1001_1002delinsTC p.T334I Missense 10/23 - 2
11-66636337-CGT-ACA c.1000_1002delinsTGT p.T334C Missense 10/23 - 1
11-66636341-T-C c.998A>G p.H333R Missense 10/23 - 1
11-66636344-T-G c.995A>C p.E332A Missense 10/23 - 1
11-66636346-CAC-ACA c.991_993delinsTGT p.V331C Missense 10/23 - 2
11-66636346-CAC-GAT c.991_993delinsATC p.V331I Missense 10/23 - 1
11-66636350-TG-GC c.988_989delinsGC p.Q330A Missense 10/23 - 1
11-66636352-CAG-GAT c.985_987delinsATC p.L329I Missense 10/23 - 1
11-66636355-GCG-CTT c.982_984delinsAAG p.R328K Missense 10/23 - 1
11-66636356-CG-GC c.982_983delinsGC p.R328A Missense 10/23 - 1
11-66636356-C-T c.983G>A p.R328H Missense 10/23 - 1
11-66636357-G-A c.982C>T p.R328C Missense 10/23 - 1
11-66636359-GA-AG c.979_980delinsCT p.S327L Missense 10/23 - 1
11-66636360-A-C c.979T>G p.S327A Missense 10/23 - 1
11-66636360-GAGTTGACCTCGAT-G c.967_979del p.I323Pfs*16 Frameshift 10/23 - 1
11-66636362-T-C c.977A>G p.N326S Missense 10/23 - 1
11-66636368-T-A c.971A>T p.E324V Missense 10/23 - 1
11-66636369-C-G c.970G>C p.E324Q Missense 10/23 - 1
11-66636369-C-T c.970G>A p.E324K Missense 10/23 - 1
11-66636373-G-C c.966C>G p.F322L Missense 10/23 - 1
11-66636377-T-A c.962A>T p.Y321F Missense 10/23 - 1
11-66636377-T-C c.962A>G p.Y321C Missense 10/23 - 1
11-66636378-A-T c.961T>A p.Y321N Missense 10/23 - 1
11-66636380-TG-GC c.958_959delinsGC p.H320A Missense 10/23 - 1
11-66636382-C-A c.957G>T p.K319N Missense 10/23 - 1
11-66636382-C-G c.957G>C p.K319N Missense 10/23 - 1
11-66636384-T-G c.955A>C p.K319Q Missense 10/23 - 1
11-66636385-GCC-CCA c.952_954delinsTGG p.G318W Missense 10/23 - 1
11-66636386-CC-AA c.952_953delinsTT p.G318F Missense 10/23 - 2
11-66636386-C-G c.953G>C p.G318A Missense 10/23 - 2
11-66636390-G-C c.949C>G p.H317D Missense 10/23 - 1
11-66636391-CC-GT c.947_948delinsAC p.R316N Missense 10/23 - 1
11-66636391-CCT-ACA c.946_948delinsTGT p.R316C Missense 10/23 - 1
11-66636392-C-T c.947G>A p.R316K Missense 10/23 - 1
11-66636393-T-C c.946A>G p.R316G Missense 10/23 - 1
11-66636395-T-G c.944A>C p.D315A Missense 10/23 - 1
11-66636403-G-A c.936C>T p.F312= Synonymous 10/23 - 1
11-66636404-AA-GC c.934_935delinsGC p.F312A Missense 10/23 - 2
11-66636416-C-G c.923G>C p.G308A Missense 10/23 - 2
11-66636417-C-T c.922G>A p.G308S Missense 10/23 - 1
11-66636419-G-A c.920C>T p.A307V Missense 10/23 - 1
11-66636420-C-A c.919G>T p.A307S Missense 10/23 - 1
11-66636424-C-A c.915G>T p.E305D Missense 10/23 - 2
11-66636424-C-G c.915G>C p.E305D Missense 10/23 - 2
11-66636424-CTC-GTT c.913_915delinsAAC p.E305N Missense 10/23 - 1
11-66636425-T-G c.914A>C p.E305A Missense 10/23 - 2
11-66636426-C-G c.913G>C p.E305Q Missense 10/23 - 1
11-66636428-T-C c.911A>G p.Y304C Missense 10/23 - 1
11-66636429-A-G c.910T>C p.Y304H Missense 10/23 - 2
11-66636429-A-T c.910T>A p.Y304N Missense 10/23 - 1
11-66636431-C-A c.908G>T p.G303V Missense 10/23 - 1
11-66636431-C-G c.908G>C p.G303A Missense 10/23 - 1
11-66636433-CAC-GAT c.904_906delinsATC p.V302I Missense 10/23 - 1
11-66637772-C-T c.903+1G>A - IntronicSNV - 9/22 1
11-66637774-T-C c.902A>G p.Q301R Missense 9/23 - 1
11-66637775-G-A c.901C>T p.Q301* Nonsense 9/23 - 1
11-66637775-G-C c.901C>G p.Q301E Missense 9/23 - 1
11-66637776-TT-CA c.899_900delinsTG p.K300M Missense 9/23 - 1
11-66637779-AGC-CCA c.895_897delinsTGG p.A299W Missense 9/23 - 1
11-66637780-G-A c.896C>T p.A299V Missense 9/23 - 1
11-66637781-C-T c.895G>A p.A299T Missense 9/23 - 1
11-66637783-AG-TT c.892_893delinsAA p.L298N Missense 9/23 - 13
11-66637786-T-C c.890A>G p.K297R Missense 9/23 - 1
11-66637786-TT-GC c.889_890delinsGC p.K297A Missense 9/23 - 3
11-66637788-CAC-GAT c.886_888delinsATC p.V296I Missense 9/23 - 3
11-66637793-A-C c.883T>G p.S295A Missense 9/23 - 1
11-66637793-A-G c.883T>C p.S295P Missense 9/23 - 1
11-66637794-G-A c.882C>T p.D294= Synonymous 9/23 - 1
11-66637795-T-C c.881A>G p.D294G Missense 9/23 - 1
11-66637798-CT-GC c.877_878delinsGC p.S293A Missense 9/23 - 1
11-66637801-GT-CC c.874_875delinsGG p.T292G Missense 9/23 - 1
11-66637802-T-C c.874A>G p.T292A Missense 9/23 - 1
11-66637804-A-G c.872T>C p.L291P Missense 9/23 - 1
11-66637804-AG-GC c.871_872delinsGC p.L291A Missense 9/23 - 2
11-66637805-G-A c.871C>T p.L291F Missense 9/23 - 1
11-66637807-CG-GC c.868_869delinsGC p.R290A Missense 9/23 - 3
11-66637807-CG-TT c.868_869delinsAA p.R290K Missense 9/23 - 1
11-66637807-C-T c.869G>A p.R290Q Missense 9/23 - 1
11-66637810-G-A c.866C>T p.T289I Missense 9/23 - 1
11-66637810-GT-TC c.865_866delinsGA p.T289D Missense 9/23 - 1
11-66637811-T-C c.865A>G p.T289A Missense 9/23 - 1
11-66637814-G-A c.862C>T p.R288W Missense 9/23 - 1
11-66637816-AG-GC c.859_860delinsGC p.L287A Missense 9/23 - 1
11-66637816-A-AG c.859dup p.L287Pfs*14 Frameshift 9/23 - 1
11-66637819-T-C c.857A>G p.Q286R Missense 9/23 - 1
11-66637820-G-GC c.855dup p.Q286Afs*15 Frameshift 9/23 - 1
11-66637825-T-G c.851A>C p.D284A Missense 9/23 - 1
11-66637827-CAG-AAA c.847_849delinsTTT p.L283F Missense 9/23 - 1
11-66637831-TG-AA c.844_845delinsTT p.H282F Missense 9/23 - 1
11-66637831-TG-GC c.844_845delinsGC p.H282A Missense 9/23 - 1
11-66637832-G-A c.844C>T p.H282Y Missense 9/23 - 5
11-66637832-G-T c.844C>A p.H282N Missense 9/23 - 2
11-66637831-TG-T c.844del p.H282Tfs*15 Frameshift 9/23 - 1
11-66637835-C-T c.841G>A p.A281T Missense 9/23 - 1
11-66637832-GGGC-G c.841_843del p.A281del InFrameDeletion 9/23 - 1
11-66637838-C-T c.838G>A p.A280T Missense 9/23 - 1
11-66637838-C-CG c.837dup p.A280Rfs*21 Frameshift 9/23 - 1
11-66637843-G-A c.833C>T p.A278V Missense 9/23 - 3
11-66637843-GC-CA c.832_833delinsTG p.A278C Missense 9/23 - 1
11-66637846-AT-CA c.829_830delinsTG p.I277C Missense 9/23 - 1
11-66637849-T-G c.827A>C p.E276A Missense 9/23 - 2
11-66637850-C-A c.826G>T p.E276* Nonsense 9/23 - 1
11-66637851-GAC-CCA c.823_825delinsTGG p.V275W Missense 9/23 - 1
11-66637854-CAC-AAA c.820_822delinsTTT p.V274F Missense 9/23 - 1
11-66637854-C-T c.822G>A p.V274= Synonymous 9/23 - 1
11-66637852-ACCACCTTCTGGTG-A c.811_823del p.H271Sfs*22 Frameshift 9/23 - 1
11-66637855-A-G c.821T>C p.V274A Missense 9/23 - 1
11-66637858-T-C c.818A>G p.K273R Missense 9/23 - 2
11-66637862-G-A c.814C>T p.Q272* Nonsense 9/23 - 1
11-66637863-G-C c.813C>G p.H271Q Missense 9/23 - 1
11-66637866-CC-AT c.809_810delinsAT p.R270H Missense 9/23 - 12
11-66637866-CCG-ACA c.808_810delinsTGT p.R270C Missense 9/23 - 1
11-66637867-CG-TA c.808_809delinsTA p.R270* Nonsense 9/23 - 2
11-66637867-CG-TT c.808_809delinsAA p.R270K Missense 9/23 - 1
11-66637868-G-A c.808C>T p.R270W Missense 9/23 - 3
11-66637869-CCG-GCT c.805_807delinsAGC p.R269S Missense 9/23 - 1
11-66637870-CG-TT c.805_806delinsAA p.R269K Missense 9/23 - 1
11-66637870-C-T c.806G>A p.R269Q Missense 9/23 - 1
11-66637874-G-A c.802C>T p.Q268* Nonsense 9/23 - 1
11-66637875-G-A c.801C>T p.I267= Synonymous 9/23 - 1
11-66637875-GA-CC c.800_801delinsGG p.I267R Missense 9/23 - 1
11-66637875-G-T c.801C>A p.I267= Synonymous 9/23 - 1
11-66637877-ATGGAGCAGTCTCGCTCGT-A c.782_799del p.Y261_I267delinsF MultiAAMissense 9/23 - 1
11-66637879-G-A c.797C>T p.S266F Missense 9/23 - 1
11-66637879-G-C c.797C>G p.S266C Missense 9/23 - 1
11-66637880-A-AT c.795_796insA p.S266Ifs*35 Frameshift 9/23 - 1
11-66637880-A-C c.796T>G p.S266A Missense 9/23 - 1
11-66637882-C-G c.794G>C p.C265S Missense 9/23 - 1
11-66637883-A-T c.793T>A p.C265S Missense 9/23 - 1
11-66637886-C-T c.790G>A p.D264N Missense 9/23 - 1
11-66637888-CG-GC c.787_788delinsGC p.R263A Missense 9/23 - 1
11-66637889-G-A c.787C>T p.R263* Nonsense 9/23 - 1
11-66637892-C-T c.784G>A p.E262K Missense 9/23 - 2
11-66637893-GT-CC c.782_783delinsGG p.Y261W Missense 9/23 - 1
11-66637895-A-C c.781T>G p.Y261D Missense 9/23 - 1
11-66637895-A-T c.781T>A p.Y261N Missense 9/23 - 1
11-66637896-C-A c.780G>T p.L260= Synonymous 9/23 - 1
11-66637896-CAG-AAA c.778_780delinsTTT p.L260F Missense 9/23 - 1
11-66637896-C-G c.780G>C p.L260= Synonymous 9/23 - 1
11-66637896-C-T c.780G>A p.L260= Synonymous 9/23 - 1
11-66637899-G-C c.777C>G p.H259Q Missense 9/23 - 1
11-66637899-G-T c.777C>A p.H259Q Missense 9/23 - 1
11-66637900-TG-GC c.775_776delinsGC p.H259A Missense 9/23 - 1
11-66637902-CAG-GTC c.772_774delinsGAC p.L258D Missense 9/23 - 1
11-66637903-AG-GC c.772_773delinsGC p.L258A Missense 9/23 - 1
11-66637903-AG-TC c.772_773delinsGA p.L258E Missense 9/23 - 1
11-66637904-G-A c.772C>T p.L258= Synonymous 9/23 - 1
11-66637905-GAT-CTC c.769_771delinsGAG p.I257E Missense 9/23 - 1
11-66637906-A-C c.770T>G p.I257S Missense 9/23 - 1
11-66637906-AT-CA c.769_770delinsTG p.I257C Missense 9/23 - 1
11-66637907-T-C c.769A>G p.I257V Missense 9/23 - 2
11-66637911-CCC-AAA c.763_765delinsTTT p.G255F Missense 9/23 - 1
11-66637911-CCC-GCT c.763_765delinsAGC p.G255S Missense 9/23 - 2
11-66637915-T-A c.761A>T p.Y254F Missense 9/23 - 1
11-66637915-TA-AG c.760_761delinsCT p.Y254L Missense 9/23 - 1
11-66637917-CTG-GTC c.757_759delinsGAC p.Q253D Missense 9/23 - 1
11-66637921-T-C c.755A>G p.D252G Missense 9/23 - 2
11-66637921-TC-AG c.754_755delinsCT p.D252L Missense 9/23 - 1
11-66637922-C-T c.754G>A p.D252N Missense 9/23 - 1
11-66637923-CC-GT c.752_753delinsAC p.G251D Missense 9/23 - 2
11-66637924-C-A c.752G>T p.G251V Missense 9/23 - 7
11-66638247-CAA-GTC c.748_750delinsGAC p.L250D Missense 8/23 - 1
11-66638248-AA-CT c.748_749delinsAG p.L250R Missense 8/23 - 1
11-66638248-AA-GT c.748_749delinsAC p.L250T Missense 8/23 - 2
11-66638248-AA-TT c.748_749inv p.L250K Missense 8/23 - 1
11-66638251-A-G c.746T>C p.I249T Missense 8/23 - 1
11-66638251-AT-CA c.745_746delinsTG p.I249C Missense 8/23 - 1
11-66638255-G-A c.742C>T p.Q248* Nonsense 8/23 - 1
11-66638258-C-A c.739G>T p.V247L Missense 8/23 - 1
11-66638258-C-G c.739G>C p.V247L Missense 8/23 - 1
11-66638259-C-A c.738G>T p.E246D Missense 8/23 - 1
11-66638259-C-G c.738G>C p.E246D Missense 8/23 - 1
11-66638260-T-G c.737A>C p.E246A Missense 8/23 - 3
11-66638263-A-T c.734T>A p.I245N Missense 8/23 - 1
11-66638266-TG-CT c.730_731delinsAG p.H244S Missense 8/23 - 1
11-66638266-TG-GC c.730_731delinsGC p.H244A Missense 8/23 - 1
11-66638267-G-A c.730C>T p.H244Y Missense 8/23 - 3
11-66638268-CC-AT c.728_729delinsAT p.R243H Missense 8/23 - 1
11-66638269-C-A c.728G>T p.R243L Missense 8/23 - 1
11-66638269-CG-GC c.727_728delinsGC p.R243A Missense 8/23 - 1
11-66638270-G-C c.727C>G p.R243G Missense 8/23 - 1
11-66638272-G-A c.725C>T p.P242L Missense 8/23 - 2
11-66638273-G-C c.724C>G p.P242A Missense 8/23 - 1
11-66638274-CTT-ACA c.721_723delinsTGT p.K241C Missense 8/23 - 1
11-66638275-T-C c.722A>G p.K241R Missense 8/23 - 2
11-66638275-TT-GC c.721_722delinsGC p.K241A Missense 8/23 - 2
11-66638276-T-C c.721A>G p.K241E Missense 8/23 - 1
11-66638278-T-C c.719A>G p.E240G Missense 8/23 - 1
11-66638281-AT-CC c.715_716delinsGG p.I239G Missense 8/23 - 1
11-66638282-T-C c.715A>G p.I239V Missense 8/23 - 1
11-66638284-AA-GC c.712_713delinsGC p.F238A Missense 8/23 - 1
11-66638283-G-C c.714C>G p.F238L Missense 8/23 - 2
11-66638283-G-T c.714C>A p.F238L Missense 8/23 - 2
11-66638285-A-G c.712T>C p.F238L Missense 8/23 - 2
11-66638287-TT-GC c.709_710delinsGC p.K237A Missense 8/23 - 1
11-66638289-CTC-ACA c.706_708delinsTGT p.E236C Missense 8/23 - 1
11-66638290-CT-C c.707del p.E236Gfs*61 Frameshift 8/23 - 1
11-66638290-T-G c.707A>C p.E236A Missense 8/23 - 1
11-66638293-A-G c.704T>C p.V235A Missense 8/23 - 2
11-66638295-AA-CC c.701_702delinsGG p.F234W Missense 8/23 - 1
11-66638296-AA-GC c.700_701delinsGC p.F234A Missense 8/23 - 1
11-66638296-A-C c.701T>G p.F234C Missense 8/23 - 6
11-66638296-A-T c.701T>A p.F234Y Missense 8/23 - 1
11-66638299-A-G c.698T>C p.L233P Missense 8/23 - 1
11-66638299-AG-CC c.697_698delinsGG p.L233G Missense 8/23 - 1
11-66638302-G-A c.695C>T p.A232V Missense 8/23 - 1
11-66638302-G-T c.695C>A p.A232E Missense 8/23 - 1
11-66638303-C-A c.694G>T p.A232S Missense 8/23 - 1
11-66638303-C-T c.694G>A p.A232T Missense 8/23 - 1
11-66638305-C-G c.692G>C p.G231A Missense 8/23 - 1
11-66638308-T-C c.689A>G p.N230S Missense 8/23 - 1
11-66638310-CCC-ACA c.685_687delinsTGT p.G229C Missense 8/23 - 2
11-66638312-C-A c.685G>T p.G229W Missense 8/23 - 1
11-66638315-A-C c.682T>G p.F228V Missense 8/23 - 1
11-66638317-GC-CA c.679_680delinsTG p.A227C Missense 8/23 - 1
11-66638317-GC-CG c.679_680delinsCG p.A227R Missense 8/23 - 1
11-66638317-GC-TA c.679_680delinsTA p.A227Y Missense 8/23 - 1
11-66638317-G-T c.680C>A p.A227D Missense 8/23 - 1
11-66638318-C-G c.679G>C p.A227P Missense 8/23 - 1
11-66638319-G-A c.678C>T p.A226= Synonymous 8/23 - 1
11-66638320-G-A c.677C>T p.A226V Missense 8/23 - 3
11-66638321-C-T c.676G>A p.A226T Missense 8/23 - 2
11-66638323-A-C c.674T>G p.L225R Missense 8/23 - 2
11-66638323-A-T c.674T>A p.L225Q Missense 8/23 - 1
11-66638326-G-A c.671C>T p.A224V Missense 8/23 - 2
11-66638326-G-T c.671C>A p.A224D Missense 8/23 - 1
11-66638327-C-T c.670G>A p.A224T Missense 8/23 - 1
11-66638329-T-G c.668A>C p.E223A Missense 8/23 - 1
11-66638331-TGA-CAT c.664_666delinsATG p.S222M Missense 8/23 - 1
11-66638331-TGA-GTC c.664_666delinsGAC p.S222D Missense 8/23 - 1
11-66638333-A-C c.664T>G p.S222A Missense 8/23 - 1
11-66638333-A-G c.664T>C p.S222P Missense 8/23 - 1
11-66638335-T-A c.662A>T p.Y221F Missense 8/23 - 1
11-66638335-TA-CC c.661_662delinsGG p.Y221G Missense 8/23 - 4
11-66638338-G-A c.659C>T p.A220V Missense 8/23 - 4
11-66638339-C-T c.658G>A p.A220T Missense 8/23 - 1
11-66638341-CG-TC c.655_656delinsGA p.R219E Missense 8/23 - 2
11-66638341-C-T c.656G>A p.R219Q Missense 8/23 - 1
11-66638342-G-A c.655C>T p.R219W Missense 8/23 - 1
11-66638344-G-A c.653C>T p.T218I Missense 8/23 - 1
11-66638346-G-C c.651C>G p.Y217* Nonsense 8/23 - 1
11-66638346-G-T c.651C>A p.Y217* Nonsense 8/23 - 1
11-66638353-T-C c.644A>G p.E215G Missense 8/23 - 1
11-66638353-T-G c.644A>C p.E215A Missense 8/23 - 1
11-66638356-T-C c.641A>G p.E214G Missense 8/23 - 2
11-66638356-TC-CT c.640_641delinsAG p.E214R Missense 8/23 - 1
11-66638356-T-G c.641A>C p.E214A Missense 8/23 - 3
11-66638357-C-T c.640G>A p.E214K Missense 8/23 - 3
11-66638358-CAG-AAA c.637_639delinsTTT p.L213F Missense 8/23 - 1
11-66638358-C-T c.639G>A p.L213= Synonymous 8/23 - 2
11-66638359-AG-GC c.637_638delinsGC p.L213A Missense 8/23 - 2
11-66638360-G-A c.637C>T p.L213= Synonymous 8/23 - 1
11-66638361-C-T c.636G>A p.E212= Synonymous 8/23 - 1
11-66638362-T-G c.635A>C p.E212A Missense 8/23 - 3
11-66638363-C-T c.634G>A p.E212K Missense 8/23 - 1
11-66638524-TC-GA c.631_632inv p.E211S Missense 7/23 - 10
11-66638525-C-G c.631G>C p.E211Q Missense 7/23 - 1
11-66638526-CG-C c.630del p.Y210* Frameshift 7/23 - 1
11-66638527-T-A c.629A>T p.Y210F Missense 7/23 - 1
11-66638529-G-C c.627C>G p.S209R Missense 7/23 - 1
11-66638529-G-T c.627C>A p.S209R Missense 7/23 - 1
11-66638531-T-G c.625A>C p.S209R Missense 7/23 - 1
11-66638530-CT-GC c.625_626delinsGC p.S209A Missense 7/23 - 1
11-66638533-TG-GC c.622_623delinsGC p.H208A Missense 7/23 - 1
11-66638534-G-A c.622C>T p.H208Y Missense 7/23 - 1
11-66638536-A-C c.620T>G p.V207G Missense 7/23 - 1
11-66638536-A-G c.620T>C p.V207A Missense 7/23 - 1
11-66638537-C-T c.619G>A p.V207M Missense 7/23 - 1
11-66638538-CA-GT c.617_618delinsAC p.V206D Missense 7/23 - 1
11-66638539-AC-TT c.616_617delinsAA p.V206K Missense 7/23 - 2
11-66638539-A-G c.617T>C p.V206A Missense 7/23 - 1
11-66638541-C-G c.615G>C p.R205S Missense 7/23 - 1
11-66638542-CT-TC c.613_614delinsGA p.R205E Missense 7/23 - 1
11-66638542-CT-TG c.613_614delinsCA p.R205Q Missense 7/23 - 1
11-66638544-C-A c.612G>T p.M204I Missense 7/23 - 1
11-66638544-C-G c.612G>C p.M204I Missense 7/23 - 1
11-66638544-C-T c.612G>A p.M204I Missense 7/23 - 1
11-66638545-A-G c.611T>C p.M204T Missense 7/23 - 1
11-66638546-T-C c.610A>G p.M204V Missense 7/23 - 1
11-66638548-CC-GT c.607_608delinsAC p.G203T Missense 7/23 - 1
11-66638548-C-G c.608G>C p.G203A Missense 7/23 - 1
11-66638547-G-GC c.608dup p.M204Hfs*97 Frameshift 7/23 - 1
11-66638549-C-G c.607G>C p.G203R Missense 7/23 - 1
11-66638550-ACG-CTT c.604_606delinsAAG p.R202K Missense 7/23 - 1
11-66638551-C-G c.605G>C p.R202P Missense 7/23 - 1
11-66638552-G-A c.604C>T p.R202C Missense 7/23 - 1
11-66638552-G-T c.604C>A p.R202S Missense 7/23 - 2
11-66638553-CCC-ACA c.601_603delinsTGT p.G201C Missense 7/23 - 1
11-66638557-C-T c.599G>A p.G200E Missense 7/23 - 1
11-66638562-CCC-GCT c.592_594delinsAGC p.G198S Missense 7/23 - 1
11-66638562-CC-GT c.593_594delinsAC p.G198D Missense 7/23 - 1
11-66638563-C-A c.593G>T p.G198V Missense 7/23 - 1
11-66638566-T-A c.590A>T p.Y197F Missense 7/23 - 1
11-66638566-TA-GC c.589_590delinsGC p.Y197A Missense 7/23 - 1
11-66638569-G-C c.587C>G p.A196G Missense 7/23 - 1
11-66638572-G-A c.584C>T p.A195V Missense 7/23 - 1
11-66638572-G-C c.584C>G p.A195G Missense 7/23 - 1
11-66638575-CTT-C c.580_581del p.K194Gfs*106 Frameshift 7/23 - 1
11-66638575-T-G c.581A>C p.K194T Missense 7/23 - 1
11-66638575-TT-GC c.580_581delinsGC p.K194A Missense 7/23 - 1
11-66638580-GA-CT c.575_576delinsAG p.I192K Missense 7/23 - 1
11-66638582-T-A c.574A>T p.I192F Missense 7/23 - 1
11-66638579-AGAT-A c.574_576del p.I192del InFrameDeletion 7/23 - 1
11-66638586-GGG-TTA c.568_570delinsTAA p.P190* Nonsense 7/23 - 1
11-66638587-G-C c.569C>G p.P190R Missense 7/23 - 1
11-66638587-GG-AA c.568_569delinsTT p.P190F Missense 7/23 - 1
11-66638588-G-C c.568C>G p.P190A Missense 7/23 - 3
11-66638591-A-T c.565T>A p.F189I Missense 7/23 - 1
11-66638592-GC-CT c.563_564delinsAG p.G188E Missense 7/23 - 1
11-66638593-C-A c.563G>T p.G188V Missense 7/23 - 1
11-66638593-C-G c.563G>C p.G188A Missense 7/23 - 1
11-66638594-C-G c.562G>C p.G188R Missense 7/23 - 2
11-66638594-C-T c.562G>A p.G188S Missense 7/23 - 2
11-66638596-T-A c.560A>T p.Y187F Missense 7/23 - 1
11-66638598-G-A c.558C>T p.T186= Synonymous 7/23 - 1
11-66638599-G-A c.557C>T p.T186I Missense 7/23 - 1
11-66638600-T-C c.556A>G p.T186A Missense 7/23 - 3
11-66638601-GTT-TTG c.553_555delinsCAA p.N185Q Missense 7/23 - 1
11-66638602-TT-GC c.553_554delinsGC p.N185A Missense 7/23 - 1
11-66638603-T-A c.553A>T p.N185Y Missense 7/23 - 1
11-66638606-A-C c.550T>G p.S184A Missense 7/23 - 2
11-66638606-A-G c.550T>C p.S184P Missense 7/23 - 1
11-66638607-GAA-CTC c.547_549delinsGAG p.F183E Missense 7/23 - 1
11-66638608-AA-CG c.547_548delinsCG p.F183R Missense 7/23 - 1
11-66638611-T-C c.545A>G p.E182G Missense 7/23 - 1
11-66638617-G-A c.539C>T p.A180V Missense 7/23 - 1
11-66638618-C-G c.538G>C p.A180P Missense 7/23 - 1
11-66638618-C-T c.538G>A p.A180T Missense 7/23 - 1
11-66638619-C-A c.537G>T p.E179D Missense 7/23 - 1
11-66638619-CCTCATGCAGGGACGTGATGGGG-C c.516_537del p.I174Tfs*24 Frameshift 7/23 - 1
11-66638619-C-G c.537G>C p.E179D Missense 7/23 - 1
11-66638620-T-C c.536A>G p.E179G Missense 7/23 - 2
11-66638620-T-G c.536A>C p.E179A Missense 7/23 - 2
11-66638621-C-T c.535G>A p.E179K Missense 7/23 - 2
11-66638628-G-T c.528C>A p.S176= Synonymous 7/23 - 1
11-66638629-GA-CG c.526_527delinsCG p.S176R Missense 7/23 - 1
11-66638630-A-C c.526T>G p.S176A Missense 7/23 - 1
11-66638630-A-G c.526T>C p.S176P Missense 7/23 - 1
11-66638631-CG-GA c.524_525delinsTC p.T175I Missense 7/23 - 1
11-66638631-CG-GT c.524_525delinsAC p.T175N Missense 7/23 - 1
11-66638631-CGT-GTC c.523_525delinsGAC p.T175D Missense 7/23 - 1
11-66638632-G-A c.524C>T p.T175M Missense 7/23 - 3
11-66638632-GT-TC c.523_524delinsGA p.T175E Missense 7/23 - 1
11-66638632-GT-TG c.523_524delinsCA p.T175Q Missense 7/23 - 1
11-66638633-T-A c.523A>T p.T175S Missense 7/23 - 1
11-66638633-T-C c.523A>G p.T175A Missense 7/23 - 3
11-66638635-A-G c.521T>C p.I174T Missense 7/23 - 1
11-66638635-AT-GC c.520_521delinsGC p.I174A Missense 7/23 - 1
11-66638635-AT-GG c.520_521delinsCC p.I174P Missense 7/23 - 1
11-66638641-GC-AA c.514_515delinsTT p.A172F Missense 7/23 - 1
11-66638641-GC-CG c.514_515delinsCG p.A172R Missense 7/23 - 1
11-66638641-G-GC c.514dup p.A172Gfs*8 Frameshift 7/23 - 1
11-66638642-C-T c.514G>A p.A172T Missense 7/23 - 1
11-66638644-T-A c.512A>T p.D171V Missense 7/23 - 1
11-66638644-TC-CA c.511_512delinsTG p.D171C Missense 7/23 - 1
11-66638645-C-T c.511G>A p.D171N Missense 7/23 - 4
11-66638650-CC-GG c.505_506inv p.G169P Missense 7/23 - 1
11-66638650-C-G c.506G>C p.G169A Missense 7/23 - 1
11-66638651-C-A c.505G>T p.G169C Missense 7/23 - 1
11-66638652-AG-TT c.503_504delinsAA p.P168Q Missense 7/23 - 1
11-66638653-G-A c.503C>T p.P168L Missense 7/23 - 2
11-66638653-GG-AC c.502_503delinsGT p.P168V Missense 7/23 - 1
11-66638654-G-A c.502C>T p.P168S Missense 7/23 - 2
11-66638654-G-C c.502C>G p.P168A Missense 7/23 - 1
11-66638655-G-A c.501C>T p.V167= Synonymous 7/23 - 1
11-66638655-G-C c.501C>G p.V167= Synonymous 7/23 - 1
11-66638655-G-T c.501C>A p.V167= Synonymous 7/23 - 1
11-66638660-C-G c.496G>C p.V166L Missense 7/23 - 1
11-66638662-G-A c.494C>T p.P165L Missense 7/23 - 1
11-66638662-G-C c.494C>G p.P165R Missense 7/23 - 1
11-66638667-AC-CT c.488_489delinsAG p.G163E Missense 7/23 - 1
11-66638668-C-G c.488G>C p.G163A Missense 7/23 - 2
11-66638786-C-G c.487G>C p.G163R Missense 6/23 - 1
11-66638786-C-T c.487G>A p.G163S Missense 6/23 - 1
11-66638788-G-A c.485C>T p.A162V Missense 6/23 - 2
11-66638792-C-T c.481G>A p.A161T Missense 6/23 - 3
11-66638794-AT-GC c.478_479delinsGC p.I160A Missense 6/23 - 1
11-66638796-GG-CT c.476_477delinsAG p.A159E Missense 6/23 - 2
11-66638797-GC-CA c.475_476delinsTG p.A159C Missense 6/23 - 1
11-66638799-G-C c.474C>G p.I158M Missense 6/23 - 1
11-66638803-G-A c.470C>T p.A157V Missense 6/23 - 1
11-66638805-CCCG-C c.466_468del p.R156del InFrameDeletion 6/23 - 1
11-66638806-CG-GC c.466_467delinsGC p.R156A Missense 6/23 - 2
11-66638806-CG-TT c.466_467delinsAA p.R156K Missense 6/23 - 1
11-66638806-C-T c.467G>A p.R156Q Missense 6/23 - 2
11-66638807-G-A c.466C>T p.R156W Missense 6/23 - 1
11-66638812-T-G c.461A>C p.E154A Missense 6/23 - 3
11-66638813-C-T c.460G>A p.E154K Missense 6/23 - 7
11-66638814-CAC-ATG c.457_459delinsCAT p.V153H Missense 6/23 - 1
11-66638814-CAC-GAT c.457_459delinsATC p.V153I Missense 6/23 - 1
11-66638815-A-G c.458T>C p.V153A Missense 6/23 - 1
11-66638816-C-T c.457G>A p.V153M Missense 6/23 - 2
11-66638818-T-C c.455A>G p.K152R Missense 6/23 - 1
11-66638818-TT-CC c.454_455delinsGG p.K152G Missense 6/23 - 1
11-66638819-T-C c.454A>G p.K152E Missense 6/23 - 1
11-66638821-T-C c.452A>G p.D151G Missense 6/23 - 1
11-66638821-TC-CT c.451_452delinsAG p.D151S Missense 6/23 - 1
11-66638821-T-G c.452A>C p.D151A Missense 6/23 - 1
11-66638822-C-A c.451G>T p.D151Y Missense 6/23 - 1
11-66638823-TCC-AAA c.448_450delinsTTT p.G150F Missense 6/23 - 7
11-66638823-TCC-GCT c.448_450delinsAGC p.G150S Missense 6/23 - 1
11-66638824-C-T c.449G>A p.G150E Missense 6/23 - 1
11-66638827-A-G c.446T>C p.M149T Missense 6/23 - 1
11-66638830-T-C c.443A>G p.K148R Missense 6/23 - 1
11-66638830-TT-GC c.442_443delinsGC p.K148A Missense 6/23 - 1
11-66638831-T-C c.442A>G p.K148E Missense 6/23 - 1
11-66638832-GCG-CCA c.439_441delinsTGG p.R147W Missense 6/23 - 13
11-66638833-C-G c.440G>C p.R147P Missense 6/23 - 2
11-66638833-CG-GC c.439_440delinsGC p.R147A Missense 6/23 - 2
11-66638838-CAC-GAT c.433_435delinsATC p.V145I Missense 6/23 - 2
11-66638838-CA-GT c.434_435delinsAC p.V145D Missense 6/23 - 1
11-66638838-C-G c.435G>C p.V145= Synonymous 6/23 - 1
11-66638838-C-T c.435G>A p.V145= Synonymous 6/23 - 1
11-66638839-A-G c.434T>C p.V145A Missense 6/23 - 2
11-66638840-C-A c.433G>T p.V145L Missense 6/23 - 1
11-66638842-T-G c.431A>C p.E144A Missense 6/23 - 1
11-66638845-G-A c.428C>T p.P143L Missense 6/23 - 1
11-66638844-TG-T c.428del p.P143Qfs*62 Frameshift 6/23 - 1
11-66638847-G-C c.426C>G p.S142R Missense 6/23 - 1
11-66638848-C-G c.425G>C p.S142T Missense 6/23 - 2
11-66638848-CT-AA c.424_425delinsTT p.S142F Missense 6/23 - 1
11-66638848-CT-AG c.424_425inv p.S142L Missense 6/23 - 1
11-66638848-CT-GC c.424_425delinsGC p.S142A Missense 6/23 - 6
11-66638848-GC-G c.425del p.S142Tfs*63 Frameshift 6/23 - 1
11-66638849-T-A c.424A>T p.S142C Missense 6/23 - 4
11-66638852-G-A c.421C>T p.P141S Missense 6/23 - 1
11-66638853-CCC-ACA c.418_420delinsTGT p.G140C Missense 6/23 - 1
11-66638853-CCC-GCT c.418_420delinsAGC p.G140S Missense 6/23 - 4
11-66638854-C-G c.419G>C p.G140A Missense 6/23 - 3
11-66638856-A-C c.417T>G p.I139M Missense 6/23 - 2
11-66638862-CC-AT c.410_411delinsAT p.R137H Missense 6/23 - 2
11-66638862-CCG-ATA c.409_411delinsTAT p.R137Y Missense 6/23 - 1
11-66638862-CCG-GTT c.409_411delinsAAC p.R137N Missense 6/23 - 1
11-66638863-CG-GC c.409_410delinsGC p.R137A Missense 6/23 - 2
11-66638863-CG-GT c.409_410delinsAC p.R137T Missense 6/23 - 1
11-66638863-C-T c.410G>A p.R137Q Missense 6/23 - 2
11-66638866-AC-CA c.406_407delinsTG p.V136C Missense 6/23 - 1
11-66638866-A-G c.407T>C p.V136A Missense 6/23 - 1
11-66638868-CCC-ACA c.403_405delinsTGT p.G135C Missense 6/23 - 3
11-66638868-CCC-ATG c.403_405delinsCAT p.G135H Missense 6/23 - 1
11-66638868-C-G c.405G>C p.G135= Synonymous 6/23 - 1
11-66638869-C-G c.404G>C p.G135A Missense 6/23 - 2
11-66638869-C-T c.404G>A p.G135E Missense 6/23 - 2
11-66638870-CTGCA-C c.399_402del p.D133Efs*71 Frameshift 6/23 - 1
11-66638872-GC-AG c.400_401delinsCT p.A134L Missense 6/23 - 1
11-66638873-C-G c.400G>C p.A134P Missense 6/23 - 1
11-66638873-C-T c.400G>A p.A134T Missense 6/23 - 1
11-66638875-T-C c.398A>G p.D133G Missense 6/23 - 2
11-66638875-T-G c.398A>C p.D133A Missense 6/23 - 1
11-66638876-C-A c.397G>T p.D133Y Missense 6/23 - 1
11-66638876-C-T c.397G>A p.D133N Missense 6/23 - 2
11-66638878-TG-GA c.394_395delinsTC p.Q132S Missense 6/23 - 1
11-66638878-TG-GC c.394_395delinsGC p.Q132A Missense 6/23 - 1
11-66638879-G-A c.394C>T p.Q132* Nonsense 6/23 - 1
11-66638879-G-T c.394C>A p.Q132K Missense 6/23 - 1
11-66638880-GCA-CAT c.391_393delinsATG p.C131M Missense 6/23 - 1
11-66638881-CA-GC c.391_392delinsGC p.C131A Missense 6/23 - 2
11-66638884-G-A c.389C>T p.A130V Missense 6/23 - 3
11-66638884-GC-AA c.388_389delinsTT p.A130F Missense 6/23 - 1
11-66638884-GC-CA c.388_389delinsTG p.A130C Missense 6/23 - 1
11-66638885-C-G c.388G>C p.A130P Missense 6/23 - 1
11-66638886-C-A c.387G>T p.Q129H Missense 6/23 - 1
11-66638886-C-G c.387G>C p.Q129H Missense 6/23 - 1
11-66638887-T-C c.386A>G p.Q129R Missense 6/23 - 1
11-66638889-G-A c.384C>T p.A128= Synonymous 6/23 - 1
11-66638889-G-C c.384C>G p.A128= Synonymous 6/23 - 1
11-66638889-G-T c.384C>A p.A128= Synonymous 6/23 - 1
11-66638890-G-A c.383C>T p.A128V Missense 6/23 - 1
11-66638890-GC-AG c.382_383delinsCT p.A128L Missense 6/23 - 1
11-66638890-GC-CA c.382_383delinsTG p.A128C Missense 6/23 - 1
11-66638891-C-A c.382G>T p.A128S Missense 6/23 - 1
11-66638891-C-T c.382G>A p.A128T Missense 6/23 - 4
11-66638892-GA-CC c.380_381delinsGG p.F127W Missense 6/23 - 1
11-66638893-AA-TC c.379_380delinsGA p.F127D Missense 6/23 - 1
11-66638900-C-T c.373G>A p.A125T Missense 6/23 - 1
11-66638901-TC-AT c.371_372delinsAT p.R124H Missense 6/23 - 2
11-66638902-CG-GC c.370_371delinsGC p.R124A Missense 6/23 - 1
11-66638903-G-A c.370C>T p.R124* Nonsense 6/23 - 2
11-66638903-G-C c.370C>G p.R124G Missense 6/23 - 1
11-66638905-TC-GT c.367_368delinsAC p.E123T Missense 6/23 - 19
11-66638905-T-G c.368A>C p.E123A Missense 6/23 - 7
11-66638906-C-T c.367G>A p.E123K Missense 6/23 - 1
11-66638908-G-A c.365C>T p.S122F Missense 6/23 - 1
11-66638908-G-C c.365C>G p.S122C Missense 6/23 - 3
11-66638908-G-T c.365C>A p.S122Y Missense 6/23 - 1
11-66638909-A-C c.364T>G p.S122A Missense 6/23 - 1
11-66638911-A-G c.362T>C p.L121P Missense 6/23 - 1
11-66638911-AG-CC c.361_362delinsGG p.L121G Missense 6/23 - 1
11-66638911-A-T c.362T>A p.L121H Missense 6/23 - 1
11-66638913-G-A c.360C>T p.F120= Synonymous 6/23 - 2
11-66638913-GAA-CTT c.358_360delinsAAG p.F120K Missense 6/23 - 1
11-66638914-AA-GC c.358_359delinsGC p.F120A Missense 6/23 - 1
11-66638913-G-C c.360C>G p.F120L Missense 6/23 - 1
11-66638913-G-T c.360C>A p.F120L Missense 6/23 - 1
11-66638915-A-G c.358T>C p.F120L Missense 6/23 - 1
11-66638916-C-A c.357G>T p.G119= Synonymous 6/23 - 1
11-66638916-CCC-GCT c.355_357delinsAGC p.G119S Missense 6/23 - 6
11-66638917-CC-GT c.355_356delinsAC p.G119T Missense 6/23 - 1
11-66638920-TA-GC c.352_353delinsGC p.Y118A Missense 6/23 - 2
11-66638920-T-C c.353A>G p.Y118C Missense 6/23 - 1
11-66638921-A-G c.352T>C p.Y118H Missense 6/23 - 1
11-66638920-TAGCC-T c.349_352del p.G117Tfs*87 Frameshift 6/23 - 1
11-66638923-C-T c.350G>A p.G117D Missense 6/23 - 2
11-66638926-G-A c.347C>T p.P116L Missense 6/23 - 1
11-66638927-G-A c.346C>T p.P116S Missense 6/23 - 1
11-66638932-A-G c.341T>C p.V114A Missense 6/23 - 2
11-66638933-C-T c.340G>A p.V114M Missense 6/23 - 1
11-66638934-CTGCATCTA-C c.332_339del p.V111Gfs*10 Frameshift 6/23 - 1
11-66638934-TGC-ACA c.337_339delinsTGT p.A113C Missense 6/23 - 1
11-66638934-TG-GT c.338_339delinsAC p.A113D Missense 6/23 - 1
11-66638935-G-A c.338C>T p.A113V Missense 6/23 - 1
11-66638935-GC-AT c.337_338delinsAT p.A113I Missense 6/23 - 1
11-66638935-G-T c.338C>A p.A113E Missense 6/23 - 1
11-66638937-ATC-CTT c.334_336delinsAAG p.D112K Missense 6/23 - 1
11-66638938-T-C c.335A>G p.D112G Missense 6/23 - 1
11-66638938-T-G c.335A>C p.D112A Missense 6/23 - 1
11-66638939-C-T c.334G>A p.D112N Missense 6/23 - 2
11-66638940-TAC-ACA c.331_333delinsTGT p.V111C Missense 6/23 - 3
11-66638940-TA-GT c.332_333delinsAC p.V111D Missense 6/23 - 1
11-66638941-A-G c.332T>C p.V111A Missense 6/23 - 2
11-66638941-A-T c.332T>A p.V111E Missense 6/23 - 2
11-66638940-T-TACTACGGTCGTA c.332_333insTACGACCGTAGT p.V111_D112insTTVV InFrameInsertion 6/23 - 1
11-66638944-TT-GC c.328_329delinsGC p.N110A Missense 6/23 - 2
11-66638947-TT-AC c.325_326delinsGT p.N109V Missense 6/23 - 1
11-66638947-TT-GC c.325_326delinsGC p.N109A Missense 6/23 - 1
11-66638949-CTC-ACA c.322_324delinsTGT p.E108C Missense 6/23 - 1
11-66638950-T-G c.323A>C p.E108A Missense 6/23 - 2
11-66638951-C-G c.322G>C p.E108Q Missense 6/23 - 1
11-66638951-C-T c.322G>A p.E108K Missense 6/23 - 1
11-66639156-A-G c.321+2T>C - IntronicSNV - 5/22 1
11-66639157-C-A c.321+1G>T - IntronicSNV - 5/22 2
11-66639158-CCTT-C c.319_321del p.K107del InFrameDeletion 5/23 - 1
11-66639158-C-T c.321G>A p.K107= Synonymous 5/23 - 1
11-66639159-T-G c.320A>C p.K107T Missense 5/23 - 1
11-66639159-TT-GC c.319_320delinsGC p.K107A Missense 5/23 - 2
11-66639162-G-A c.317C>T p.A106V Missense 5/23 - 1
11-66639162-GC-CA c.316_317delinsTG p.A106C Missense 5/23 - 1
11-66639163-C-A c.316G>T p.A106S Missense 5/23 - 1
11-66639164-C-A c.315G>T p.V105= Synonymous 5/23 - 1
11-66639164-CAC-ACA c.313_315delinsTGT p.V105C Missense 5/23 - 8
11-66639164-C-G c.315G>C p.V105= Synonymous 5/23 - 1
11-66639164-C-T c.315G>A p.V105= Synonymous 5/23 - 1
11-66639165-A-C c.314T>G p.V105G Missense 5/23 - 1
11-66639165-A-G c.314T>C p.V105A Missense 5/23 - 1
11-66639166-C-A c.313G>T p.V105L Missense 5/23 - 1
11-66639167-CTT-ACA c.310_312delinsTGT p.K104C Missense 5/23 - 1
11-66639168-TT-CC c.310_311delinsGG p.K104G Missense 5/23 - 1
11-66639170-GAT-CCA c.307_309delinsTGG p.I103W Missense 5/23 - 1
11-66639170-G-C c.309C>G p.I103M Missense 5/23 - 1
11-66639171-A-T c.308T>A p.I103N Missense 5/23 - 1
11-66639171-AT-CA c.307_308delinsTG p.I103C Missense 5/23 - 2
11-66639176-G-A c.303C>T p.D101= Synonymous 5/23 - 1
11-66639176-G-C c.303C>G p.D101E Missense 5/23 - 1
11-66639176-G-T c.303C>A p.D101E Missense 5/23 - 1
11-66639177-T-C c.302A>G p.D101G Missense 5/23 - 3
11-66639177-TC-CG c.301_302delinsCG p.D101R Missense 5/23 - 1
11-66639177-T-G c.302A>C p.D101A Missense 5/23 - 2
11-66639178-C-A c.301G>T p.D101Y Missense 5/23 - 1
11-66639178-C-T c.301G>A p.D101N Missense 5/23 - 4
11-66639179-TGG-AAA c.298_300delinsTTT p.P100F Missense 5/23 - 1
11-66639179-TGG-CAT c.298_300delinsATG p.P100M Missense 5/23 - 1
11-66639179-TGG-GTC c.298_300delinsGAC p.P100D Missense 5/23 - 2
11-66639180-GG-AC c.298_299delinsGT p.P100V Missense 5/23 - 1
11-66639181-G-A c.298C>T p.P100S Missense 5/23 - 3
11-66639182-GAT-TTA c.295_297delinsTAA p.I99* Nonsense 5/23 - 1
11-66639183-A-G c.296T>C p.I99T Missense 5/23 - 2
11-66639186-TG-GC c.292_293delinsGC p.H98A Missense 5/23 - 1
11-66639189-AG-GC c.289_290delinsGC p.L97A Missense 5/23 - 1
11-66639191-GT-CC c.287_288delinsGG p.Y96W Missense 5/23 - 1
11-66639192-T-A c.287A>T p.Y96F Missense 5/23 - 5
11-66639192-TA-AC c.286_287delinsGT p.Y96V Missense 5/23 - 1
11-66639192-TA-AT c.286_287delinsAT p.Y96I Missense 5/23 - 1
11-66639192-TA-GC c.286_287delinsGC p.Y96A Missense 5/23 - 3
11-66639192-T-C c.287A>G p.Y96C Missense 5/23 - 3
11-66639194-G-A c.285C>T p.A95= Synonymous 5/23 - 4
11-66639194-G-C c.285C>G p.A95= Synonymous 5/23 - 4
11-66639194-GG-CT c.284_285delinsAG p.A95E Missense 5/23 - 2
11-66639194-G-T c.285C>A p.A95= Synonymous 5/23 - 4
11-66639195-G-A c.284C>T p.A95V Missense 5/23 - 1
11-66639195-GC-AA c.283_284delinsTT p.A95F Missense 5/23 - 3
11-66639195-GC-CA c.283_284delinsTG p.A95C Missense 5/23 - 4
11-66639195-G-T c.284C>A p.A95D Missense 5/23 - 2
11-66639198-T-A c.281A>T p.Q94L Missense 5/23 - 1
11-66639198-T-TG c.280dup p.Q94Pfs*30 Frameshift 5/23 - 1
11-66639199-G-A c.280C>T p.Q94* Nonsense 5/23 - 2
11-66639199-G-C c.280C>G p.Q94E Missense 5/23 - 1
11-66639199-G-T c.280C>A p.Q94K Missense 5/23 - 1
11-66639200-CAC-ACA c.277_279delinsTGT p.V93C Missense 5/23 - 1
11-66639201-AC-TT c.277_278delinsAA p.V93K Missense 5/23 - 1
11-66639201-A-G c.278T>C p.V93A Missense 5/23 - 1
11-66639200-CACGGGGGCCAGGCCGCGGCCG-C c.258_278del p.I86_V93delinsM MultiAAMissense 5/23 - 1
11-66639203-G-A c.276C>T p.P92= Synonymous 5/23 - 1
11-66639203-G-C c.276C>G p.P92= Synonymous 5/23 - 1
11-66639203-G-T c.276C>A p.P92= Synonymous 5/23 - 1
11-66639206-G-A c.273C>T p.A91= Synonymous 5/23 - 3
11-66639206-G-C c.273C>G p.A91= Synonymous 5/23 - 3
11-66639206-GG-CT c.272_273delinsAG p.A91E Missense 5/23 - 7
11-66639206-G-T c.273C>A p.A91= Synonymous 5/23 - 3
11-66639207-G-A c.272C>T p.A91V Missense 5/23 - 3
11-66639207-GC-AA c.271_272delinsTT p.A91F Missense 5/23 - 3
11-66639207-GC-CA c.271_272delinsTG p.A91C Missense 5/23 - 1
11-66639207-G-T c.272C>A p.A91D Missense 5/23 - 1
11-66639209-CAG-ACA c.268_270delinsTGT p.L90C Missense 5/23 - 1
11-66639209-CAG-GTC c.268_270delinsGAC p.L90D Missense 5/23 - 1
11-66639210-A-C c.269T>G p.L90R Missense 5/23 - 1
11-66639210-AG-TT c.268_269delinsAA p.L90K Missense 5/23 - 2
11-66639211-G-T c.268C>A p.L90M Missense 5/23 - 6
11-66639213-CC-GG c.265_266inv p.G89P Missense 5/23 - 1
11-66639213-C-T c.266G>A p.G89D Missense 5/23 - 1
11-66639215-GCG-CTT c.262_264delinsAAG p.R88K Missense 5/23 - 1
11-66639216-CG-GC c.262_263delinsGC p.R88A Missense 5/23 - 3
11-66639219-C-A c.260G>T p.G87V Missense 5/23 - 1
11-66639219-CC-TG c.259_260delinsCA p.G87H Missense 5/23 - 1
11-66639222-AT-CA c.256_257delinsTG p.I86C Missense 5/23 - 1
11-66639222-AT-GC c.256_257delinsGC p.I86A Missense 5/23 - 1
11-66639222-AT-TC c.256_257delinsGA p.I86D Missense 5/23 - 1
11-66639223-T-G c.256A>C p.I86L Missense 5/23 - 1
11-66639225-A-G c.254T>C p.L85P Missense 5/23 - 1
11-66639225-AG-GC c.253_254delinsGC p.L85A Missense 5/23 - 1
11-66639229-A-T c.250T>A p.Y84N Missense 5/23 - 1
11-66639230-GGC-CCA c.247_249delinsTGG p.A83W Missense 5/23 - 1
11-66639230-GG-CT c.248_249delinsAG p.A83E Missense 5/23 - 5
11-66639231-G-A c.248C>T p.A83V Missense 5/23 - 1
11-66639231-GC-AA c.247_248delinsTT p.A83F Missense 5/23 - 1
11-66639231-GC-CA c.247_248delinsTG p.A83C Missense 5/23 - 5
11-66639231-G-T c.248C>A p.A83D Missense 5/23 - 5
11-66639232-C-T c.247G>A p.A83T Missense 5/23 - 1
11-66639233-T-A c.246A>T p.E82D Missense 5/23 - 1
11-66639233-T-C c.246A>G p.E82= Synonymous 5/23 - 1
11-66639233-T-G c.246A>C p.E82D Missense 5/23 - 1
11-66639233-TTC-AAA c.244_246delinsTTT p.E82F Missense 5/23 - 2
11-66639233-TTC-ACA c.244_246delinsTGT p.E82C Missense 5/23 - 1
11-66639234-T-C c.245A>G p.E82G Missense 5/23 - 2
11-66639235-C-G c.244G>C p.E82Q Missense 5/23 - 2
11-66639235-C-CA c.243dup p.E82* Nonsense 5/23 - 1
11-66639236-A-G c.243T>C p.D81= Synonymous 5/23 - 1
11-66639237-TC-AA c.241_242delinsTT p.D81F Missense 5/23 - 1
11-66639237-TC-CA c.241_242delinsTG p.D81C Missense 5/23 - 1
11-66639238-C-T c.241G>A p.D81N Missense 5/23 - 1
11-66639239-T-A c.240A>T p.A80= Synonymous 5/23 - 3
11-66639239-T-C c.240A>G p.A80= Synonymous 5/23 - 3
11-66639239-T-G c.240A>C p.A80= Synonymous 5/23 - 3
11-66639239-TGC-AAA c.238_240delinsTTT p.A80F Missense 5/23 - 6
11-66639239-TGC-ACA c.238_240delinsTGT p.A80C Missense 5/23 - 4
11-66639239-TGC-CAT c.238_240delinsATG p.A80M Missense 5/23 - 1
11-66639239-TG-GT c.239_240delinsAC p.A80D Missense 5/23 - 5
11-66639240-G-A c.239C>T p.A80V Missense 5/23 - 2
11-66639240-G-C c.239C>G p.A80G Missense 5/23 - 1
11-66639240-G-T c.239C>A p.A80E Missense 5/23 - 3
11-66639241-C-G c.238G>C p.A80P Missense 5/23 - 1
11-66639242-T-A c.237A>T p.K79N Missense 5/23 - 1
11-66639242-T-C c.237A>G p.K79= Synonymous 5/23 - 1
11-66639242-T-G c.237A>C p.K79N Missense 5/23 - 1
11-66639242-TTT-ACA c.235_237delinsTGT p.K79C Missense 5/23 - 1
11-66639242-TTT-ATA c.235_237delinsTAT p.K79Y Missense 5/23 - 1
11-66639243-T-C c.236A>G p.K79R Missense 5/23 - 1
11-66639243-TT-CC c.235_236delinsGG p.K79G Missense 5/23 - 1
11-66639243-TT-GC c.235_236delinsGC p.K79A Missense 5/23 - 2
11-66639246-T-C c.233A>G p.Q78R Missense 5/23 - 3
11-66639248-CCG-GTC c.229_231delinsGAC p.R77D Missense 5/23 - 1
11-66639249-CG-GC c.229_230delinsGC p.R77A Missense 5/23 - 5
11-66639249-CG-TC c.229_230delinsGA p.R77E Missense 5/23 - 2
11-66639249-CG-TT c.229_230delinsAA p.R77K Missense 5/23 - 1
11-66639249-C-T c.230G>A p.R77Q Missense 5/23 - 2
11-66639252-T-C c.227A>G p.H76R Missense 5/23 - 1
11-66639255-AT-GC c.223_224delinsGC p.M75A Missense 5/23 - 1
11-66639256-ATCT-A c.221_223del p.Q74_M75delinsL MultiAAMissense 5/23 - 1
11-66639256-T-TGGTCTC c.222_223insGAGACC p.Q74_M75insET InFrameInsertion 5/23 - 1
11-66639258-T-A c.221A>T p.Q74L Missense 5/23 - 1
11-66639258-TG-GC c.220_221delinsGC p.Q74A Missense 5/23 - 1
11-66639259-G-A c.220C>T p.Q74* Nonsense 5/23 - 1
11-66639258-T-TGGTCTC c.220_221insGAGACC p.G73_Q74insRD InFrameInsertion 5/23 - 1
11-66639261-CC-TA c.217_218delinsTA p.G73Y Missense 5/23 - 1
11-66639262-C-CT c.216_217insA p.G73Rfs*10 Frameshift 5/23 - 1
11-66639262-C-G c.217G>C p.G73R Missense 5/23 - 1
11-66639262-C-T c.217G>A p.G73S Missense 5/23 - 3
11-66639263-C-A c.216G>T p.T72= Synonymous 5/23 - 2
11-66639263-C-G c.216G>C p.T72= Synonymous 5/23 - 2
11-66639263-CGT-ACA c.214_216delinsTGT p.T72C Missense 5/23 - 1
11-66639263-CGT-ATG c.214_216delinsCAT p.T72H Missense 5/23 - 2
11-66639263-C-T c.216G>A p.T72= Synonymous 5/23 - 2
11-66639264-G-C c.215C>G p.T72R Missense 5/23 - 1
11-66639264-GT-TC c.214_215delinsGA p.T72E Missense 5/23 - 1
11-66639265-T-A c.214A>T p.T72S Missense 5/23 - 2
11-66639265-T-C c.214A>G p.T72A Missense 5/23 - 3
11-66639266-G-A c.213C>T p.D71= Synonymous 5/23 - 1
11-66639266-G-C c.213C>G p.D71E Missense 5/23 - 3
11-66639266-G-T c.213C>A p.D71E Missense 5/23 - 4
11-66639266-GTC-CTT c.211_213delinsAAG p.D71K Missense 5/23 - 1
11-66639267-TC-AA c.211_212delinsTT p.D71F Missense 5/23 - 4
11-66639267-TC-CA c.211_212delinsTG p.D71C Missense 5/23 - 1
11-66639267-T-G c.212A>C p.D71A Missense 5/23 - 5
11-66639267-T-TTC c.211_212insGA p.D71Gfs*42 Frameshift 5/23 - 1
11-66639269-C-A c.210G>T p.Q70H Missense 5/23 - 1
11-66639269-CTG-ACA c.208_210delinsTGT p.Q70C Missense 5/23 - 1
11-66639270-T-A c.209A>T p.Q70L Missense 5/23 - 4
11-66639270-TG-AT c.208_209delinsAT p.Q70M Missense 5/23 - 1
11-66639271-G-T c.208C>A p.Q70K Missense 5/23 - 1
11-66639272-C-A c.207G>T p.E69D Missense 5/23 - 2
11-66639272-C-G c.207G>C p.E69D Missense 5/23 - 2
11-66639272-CTC-AAA c.205_207delinsTTT p.E69F Missense 5/23 - 1
11-66639272-CTC-ACA c.205_207delinsTGT p.E69C Missense 5/23 - 1
11-66639272-CTC-GTT c.205_207delinsAAC p.E69N Missense 5/23 - 1
11-66639273-TC-AG c.205_206delinsCT p.E69L Missense 5/23 - 1
11-66639273-T-G c.206A>C p.E69A Missense 5/23 - 5
11-66639274-C-G c.205G>C p.E69Q Missense 5/23 - 2
11-66639274-C-T c.205G>A p.E69K Missense 5/23 - 1
11-66639276-G-A c.203C>T p.S68F Missense 5/23 - 2
11-66639276-GA-CC c.202_203delinsGG p.S68G Missense 5/23 - 1
11-66639276-GA-CG c.202_203delinsCG p.S68R Missense 5/23 - 1
11-66639276-G-C c.203C>G p.S68C Missense 5/23 - 3
11-66639276-G-T c.203C>A p.S68Y Missense 5/23 - 1
11-66639277-A-C c.202T>G p.S68A Missense 5/23 - 1
11-66639279-T-A c.200A>T p.Y67F Missense 5/23 - 2
11-66639281-G-C c.198C>G p.I66M Missense 5/23 - 1
11-66639282-AT-CA c.196_197delinsTG p.I66C Missense 5/23 - 1
11-66639282-AT-GG c.196_197delinsCC p.I66P Missense 5/23 - 1
11-66639283-T-A c.196A>T p.I66F Missense 5/23 - 1
11-66639283-T-C c.196A>G p.I66V Missense 5/23 - 1
11-66639284-G-A c.195C>T p.A65= Synonymous 5/23 - 2
11-66639284-G-C c.195C>G p.A65= Synonymous 5/23 - 2
11-66639284-GG-CT c.194_195delinsAG p.A65E Missense 5/23 - 8
11-66639284-G-T c.195C>A p.A65= Synonymous 5/23 - 2
11-66639285-G-C c.194C>G p.A65G Missense 5/23 - 1
11-66639285-GC-AA c.193_194delinsTT p.A65F Missense 5/23 - 5
11-66639285-GC-CA c.193_194delinsTG p.A65C Missense 5/23 - 4
11-66639285-G-T c.194C>A p.A65D Missense 5/23 - 6
11-66639287-T-A c.192A>T p.V64= Synonymous 5/23 - 1
11-66639287-TAC-GTT c.190_192delinsAAC p.V64N Missense 5/23 - 15
11-66639287-T-C c.192A>G p.V64= Synonymous 5/23 - 1
11-66639287-T-G c.192A>C p.V64= Synonymous 5/23 - 1
11-66639288-A-G c.191T>C p.V64A Missense 5/23 - 1
11-66639289-C-T c.190G>A p.V64I Missense 5/23 - 2
11-66639290-G-A c.189C>T p.T63= Synonymous 5/23 - 1
11-66639290-G-C c.189C>G p.T63= Synonymous 5/23 - 1
11-66639290-GG-CA c.188_189delinsTG p.T63M Missense 5/23 - 1
11-66639290-GGT-CTC c.187_189delinsGAG p.T63E Missense 5/23 - 1
11-66639290-G-T c.189C>A p.T63= Synonymous 5/23 - 1
11-66639291-G-A c.188C>T p.T63I Missense 5/23 - 1
11-66639291-GT-TC c.187_188delinsGA p.T63D Missense 5/23 - 1
11-66639292-T-C c.187A>G p.T63A Missense 5/23 - 1
11-66639294-CG-TC c.184_185delinsGA p.R62D Missense 5/23 - 1
11-66639295-G-A c.184C>T p.R62C Missense 5/23 - 1
11-66639296-GA-CC c.182_183delinsGG p.I61R Missense 5/23 - 1
11-66639296-GAT-TTA c.181_183delinsTAA p.I61* Nonsense 5/23 - 1
11-66639297-A-G c.182T>C p.I61T Missense 5/23 - 1
11-66639297-AT-CA c.181_182delinsTG p.I61C Missense 5/23 - 1
11-66639299-GCC-TCA c.178_180delinsTGA p.G60* Nonsense 5/23 - 2
11-66639300-CC-TA c.178_179delinsTA p.G60Y Missense 5/23 - 1
11-66639300-C-G c.179G>C p.G60A Missense 5/23 - 4
11-66639301-C-A c.178G>T p.G60C Missense 5/23 - 2
11-66639301-C-G c.178G>C p.G60R Missense 5/23 - 1
11-66639301-C-T c.178G>A p.G60S Missense 5/23 - 1
11-66639302-CAG-ACA c.175_177delinsTGT p.L59C Missense 5/23 - 1
11-66639302-CCA-C c.176_177del p.L59Rfs*10 Frameshift 5/23 - 1
11-66639303-A-G c.176T>C p.L59P Missense 5/23 - 1
11-66639304-G-T c.175C>A p.L59M Missense 5/23 - 1
11-66639306-T-G c.173A>C p.E58A Missense 5/23 - 2
11-66639307-C-A c.172G>T p.E58* Nonsense 5/23 - 2
11-66639307-C-T c.172G>A p.E58K Missense 5/23 - 1
11-66639308-C-A c.171G>T p.T57= Synonymous 5/23 - 2
11-66639308-C-G c.171G>C p.T57= Synonymous 5/23 - 2
11-66639308-C-T c.171G>A p.T57= Synonymous 5/23 - 2
11-66639309-G-A c.170C>T p.T57M Missense 5/23 - 1
11-66639309-G-C c.170C>G p.T57R Missense 5/23 - 1
11-66639310-T-A c.169A>T p.T57S Missense 5/23 - 2
11-66639311-G-A c.168C>T p.C56= Synonymous 5/23 - 1
11-66639311-GCA-CTC c.166_168delinsGAG p.C56E Missense 5/23 - 1
11-66639312-C-A c.167G>T p.C56F Missense 5/23 - 2
11-66639312-CA-GC c.166_167delinsGC p.C56A Missense 5/23 - 2
11-66639312-CA-GT c.166_167delinsAC p.C56T Missense 5/23 - 1
11-66639312-CA-TC c.166_167delinsGA p.C56D Missense 5/23 - 1
11-66639312-C-T c.167G>A p.C56Y Missense 5/23 - 3
11-66639312-C-G c.167G>C p.C56S Missense 5/23 - 5
11-66639313-A-T c.166T>A p.C56S Missense 5/23 - 5
11-66639314-G-A c.165C>T p.A55= Synonymous 5/23 - 7
11-66639314-G-C c.165C>G p.A55= Synonymous 5/23 - 7
11-66639314-GG-CT c.164_165delinsAG p.A55E Missense 5/23 - 7
11-66639314-G-T c.165C>A p.A55= Synonymous 5/23 - 7
11-66639315-G-A c.164C>T p.A55V Missense 5/23 - 1
11-66639315-G-C c.164C>G p.A55G Missense 5/23 - 3
11-66639315-GC-AA c.163_164delinsTT p.A55F Missense 5/23 - 5
11-66639315-GC-CA c.163_164delinsTG p.A55C Missense 5/23 - 7
11-66639315-G-T c.164C>A p.A55D Missense 5/23 - 6
11-66639316-C-T c.163G>A p.A55T Missense 5/23 - 2
11-66639317-CCG-ACA c.160_162delinsTGT p.R54C Missense 5/23 - 2
11-66639318-CG-GC c.160_161delinsGC p.R54A Missense 5/23 - 1
11-66639318-CG-TC c.160_161delinsGA p.R54E Missense 5/23 - 1
11-66639318-CG-TT c.160_161delinsAA p.R54K Missense 5/23 - 1
11-66639318-C-T c.161G>A p.R54Q Missense 5/23 - 1
11-66639317-C-A c.162G>T p.R54= Synonymous 5/23 - 1
11-66639317-C-G c.162G>C p.R54= Synonymous 5/23 - 1
11-66639317-C-T c.162G>A p.R54= Synonymous 5/23 - 1
11-66639319-G-A c.160C>T p.R54W Missense 5/23 - 1
11-66639319-G-T c.160C>A p.R54= Synonymous 5/23 - 1
11-66639320-GAA-CTC c.157_159delinsGAG p.F53E Missense 5/23 - 1
11-66639320-GAA-TTG c.157_159delinsCAA p.F53Q Missense 5/23 - 1
11-66639321-AA-GC c.157_158delinsGC p.F53A Missense 5/23 - 1
11-66639321-AA-TC c.157_158delinsGA p.F53D Missense 5/23 - 2
11-66639321-A-G c.158T>C p.F53S Missense 5/23 - 1
11-66639321-GAACA-G c.155_158del p.V52Afs*12 Frameshift 5/23 - 1
11-66639320-G-C c.159C>G p.F53L Missense 5/23 - 3
11-66639320-G-T c.159C>A p.F53L Missense 5/23 - 3
11-66639322-A-G c.157T>C p.F53L Missense 5/23 - 3
11-66639323-AC-A c.156del p.F53Sfs*12 Frameshift 5/23 - 1
11-66639323-CA-GT c.155_156delinsAC p.V52D Missense 5/23 - 1
11-66639324-A-T c.155T>A p.V52E Missense 5/23 - 1
11-66639325-C-A c.154G>T p.V52L Missense 5/23 - 1
11-66639325-C-G c.154G>C p.V52L Missense 5/23 - 1
11-66639326-ACG-CCA c.151_153delinsTGG p.R51W Missense 5/23 - 1
11-66639327-CG-GC c.151_152delinsGC p.R51A Missense 5/23 - 2
11-66639327-C-T c.152G>A p.R51H Missense 5/23 - 3
11-66639328-G-A c.151C>T p.R51C Missense 5/23 - 2
11-66639329-G-A c.150C>T p.I50= Synonymous 5/23 - 1
11-66639329-G-T c.150C>A p.I50= Synonymous 5/23 - 1
11-66639330-AT-CA c.148_149delinsTG p.I50C Missense 5/23 - 1
11-66639330-AT-CC c.148_149delinsGG p.I50G Missense 5/23 - 1
11-66639331-T-A c.148A>T p.I50F Missense 5/23 - 2
11-66639331-T-C c.148A>G p.I50V Missense 5/23 - 6
11-66639331-T-G c.148A>C p.I50L Missense 5/23 - 1
11-66639332-G-A c.147C>T p.A49= Synonymous 5/23 - 9
11-66639332-G-C c.147C>G p.A49= Synonymous 5/23 - 9
11-66639332-GG-CT c.146_147delinsAG p.A49E Missense 5/23 - 3
11-66639332-G-T c.147C>A p.A49= Synonymous 5/23 - 9
11-66639333-G-C c.146C>G p.A49G Missense 5/23 - 4
11-66639333-GC-AA c.145_146delinsTT p.A49F Missense 5/23 - 2
11-66639333-GC-CA c.145_146delinsTG p.A49C Missense 5/23 - 6
11-66639333-GC-CG c.145_146delinsCG p.A49R Missense 5/23 - 1
11-66639333-G-T c.146C>A p.A49D Missense 5/23 - 3
11-66639334-C-A c.145G>T p.A49S Missense 5/23 - 1
11-66639334-C-T c.145G>A p.A49T Missense 5/23 - 2
11-66639335-A-C c.144T>G p.I48M Missense 5/23 - 2
11-66639336-A-C c.143T>G p.I48S Missense 5/23 - 1
11-66639337-T-C c.142A>G p.I48V Missense 5/23 - 2
11-66639338-C-A c.141G>T p.E47D Missense 5/23 - 2
11-66639338-C-G c.141G>C p.E47D Missense 5/23 - 2
11-66639338-C-T c.141G>A p.E47= Synonymous 5/23 - 1
11-66639338-CTC-AAA c.139_141delinsTTT p.E47F Missense 5/23 - 2
11-66639338-CTC-ACA c.139_141delinsTGT p.E47C Missense 5/23 - 1
11-66639339-T-G c.140A>C p.E47A Missense 5/23 - 2
11-66639340-C-G c.139G>C p.E47Q Missense 5/23 - 1
11-66639340-C-T c.139G>A p.E47K Missense 5/23 - 1
11-66639341-AC-CT c.137_138delinsAG p.G46E Missense 5/23 - 2
11-66639342-C-A c.137G>T p.G46V Missense 5/23 - 2
11-66639342-C-T c.137G>A p.G46D Missense 5/23 - 2
11-66639495-C-G c.136G>C p.G46R Missense 4/23 - 1
11-66639495-C-T c.136G>A p.G46S Missense 4/23 - 1
11-66639496-TCT-ACA c.133_135delinsTGT p.R45C Missense 4/23 - 1
11-66639497-CT-GC c.133_134delinsGC p.R45A Missense 4/23 - 2
11-66639497-CT-TG c.133_134delinsCA p.R45Q Missense 4/23 - 1
11-66639500-T-A c.131A>T p.N44I Missense 4/23 - 1
11-66639499-G-GT c.131dup p.N44Kfs*4 Frameshift 4/23 - 1
11-66639501-T-C c.130A>G p.N44D Missense 4/23 - 1
11-66639502-G-A c.129C>T p.A43= Synonymous 4/23 - 4
11-66639502-G-C c.129C>G p.A43= Synonymous 4/23 - 4
11-66639502-GG-CT c.128_129delinsAG p.A43E Missense 4/23 - 2
11-66639502-G-T c.129C>A p.A43= Synonymous 4/23 - 4
11-66639503-GC-AA c.127_128delinsTT p.A43F Missense 4/23 - 5
11-66639503-GC-CA c.127_128delinsTG p.A43C Missense 4/23 - 3
11-66639503-G-T c.128C>A p.A43D Missense 4/23 - 1
11-66639504-C-T c.127G>A p.A43T Missense 4/23 - 1
11-66639506-A-G c.125T>C p.V42A Missense 4/23 - 1
11-66639508-CA-GC c.122_123delinsGC p.M41S Missense 4/23 - 6
11-66639510-T-A c.121A>T p.M41L Missense 4/23 - 11
11-66639510-T-G c.121A>C p.M41L Missense 4/23 - 11
11-66639512-AC-CA c.118_119delinsTG p.V40C Missense 4/23 - 3
11-66639512-A-G c.119T>C p.V40A Missense 4/23 - 2
11-66639513-C-G c.118G>C p.V40L Missense 4/23 - 1
11-66639513-C-T c.118G>A p.V40I Missense 4/23 - 4
11-66639514-T-A c.117A>T p.K39N Missense 4/23 - 1
11-66639514-T-G c.117A>C p.K39N Missense 4/23 - 1
11-66639515-T-C c.116A>G p.K39R Missense 4/23 - 2
11-66639515-TT-GC c.115_116delinsGC p.K39A Missense 4/23 - 3
11-66639518-T-A c.113A>T p.K38M Missense 4/23 - 1
11-66639518-T-C c.113A>G p.K38R Missense 4/23 - 3
11-66639518-T-G c.113A>C p.K38T Missense 4/23 - 1
11-66639518-TT-GC c.112_113delinsGC p.K38A Missense 4/23 - 15
11-66639521-AT-GC c.109_110delinsGC p.I37A Missense 4/23 - 1
11-66639521-AT-TC c.109_110delinsGA p.I37D Missense 4/23 - 1
11-66639523-G-A c.108C>T p.P36= Synonymous 4/23 - 1
11-66639523-G-C c.108C>G p.P36= Synonymous 4/23 - 1
11-66639523-G-T c.108C>A p.P36= Synonymous 4/23 - 1
11-66639524-G-A c.107C>T p.P36L Missense 4/23 - 3
11-66639524-GG-AT c.106_107delinsAT p.P36I Missense 4/23 - 1
11-66639527-T-G c.104A>C p.K35T Missense 4/23 - 1
11-66639527-TT-GC c.103_104delinsGC p.K35A Missense 4/23 - 2
11-66639528-T-C c.103A>G p.K35E Missense 4/23 - 1
11-66639528-T-G c.103A>C p.K35Q Missense 4/23 - 1
11-66639530-TA-AG c.100_101delinsCT p.Y34L Missense 4/23 - 1
11-66639532-C-A c.99G>T p.E33D Missense 4/23 - 3
11-66639532-C-G c.99G>C p.E33D Missense 4/23 - 3
11-66639532-C-T c.99G>A p.E33= Synonymous 4/23 - 1
11-66639532-CTC-ACA c.97_99delinsTGT p.E33C Missense 4/23 - 3
11-66639533-T-G c.98A>C p.E33A Missense 4/23 - 1
11-66639535-CAG-AAA c.94_96delinsTTT p.L32F Missense 4/23 - 1
11-66639536-A-C c.95T>G p.L32R Missense 4/23 - 1
11-66639536-A-G c.95T>C p.L32P Missense 4/23 - 1
11-66639536-AG-GC c.94_95delinsGC p.L32A Missense 4/23 - 4
11-66639536-AG-TC c.94_95delinsGA p.L32E Missense 4/23 - 4
11-66639536-A-T c.95T>A p.L32Q Missense 4/23 - 1
11-66639536-AG-A c.94del p.L32Wfs*33 Frameshift 4/23 - 1
11-66639538-GCG-CTT c.91_93delinsAAG p.R31K Missense 4/23 - 1
11-66639539-CG-GC c.91_92delinsGC p.R31A Missense 4/23 - 2
11-66639541-CCG-ACA c.88_90delinsTGT p.R30C Missense 4/23 - 1
11-66639541-CCG-GCT c.88_90delinsAGC p.R30S Missense 4/23 - 1
11-66639541-CCG-GTC c.88_90delinsGAC p.R30D Missense 4/23 - 1
11-66639541-C-T c.90G>A p.R30= Synonymous 4/23 - 1
11-66639542-CG-AT c.88_89delinsAT p.R30M Missense 4/23 - 3
11-66639542-CG-GC c.88_89delinsGC p.R30A Missense 4/23 - 4
11-66639542-CG-TT c.88_89delinsAA p.R30K Missense 4/23 - 1
11-66639544-GAC-CCA c.85_87delinsTGG p.V29W Missense 4/23 - 1
11-66639545-A-G c.86T>C p.V29A Missense 4/23 - 1
11-66639546-C-CG c.84_85insC p.V29Rfs*7 Frameshift 4/23 - 1
11-66639546-C-G c.85G>C p.V29L Missense 4/23 - 1
11-66639546-C-T c.85G>A p.V29I Missense 4/23 - 1
11-66639548-T-C c.83A>G p.N28S Missense 4/23 - 1
11-66639549-T-A c.82A>T p.N28Y Missense 4/23 - 1
11-66639550-T-A c.81A>T p.P27= Synonymous 4/23 - 1
11-66639550-T-C c.81A>G p.P27= Synonymous 4/23 - 1
11-66639550-T-G c.81A>C p.P27= Synonymous 4/23 - 1
11-66639550-TGG-ACA c.79_81delinsTGT p.P27C Missense 4/23 - 1
11-66639550-TGG-CCA c.79_81inv p.P27W Missense 4/23 - 1
11-66639551-GG-CC c.79_80inv p.P27G Missense 4/23 - 1
11-66639551-GG-TT c.79_80delinsAA p.P27K Missense 4/23 - 4
11-66639551-G-T c.80C>A p.P27Q Missense 4/23 - 1
11-66639552-G-C c.79C>G p.P27A Missense 4/23 - 2
11-66639553-G-A c.78C>T p.S26= Synonymous 4/23 - 1
11-66639553-G-C c.78C>G p.S26= Synonymous 4/23 - 1
11-66639553-GGA-CAT c.76_78delinsATG p.S26M Missense 4/23 - 1
11-66639553-GGA-CTC c.76_78delinsGAG p.S26E Missense 4/23 - 3
11-66639553-G-T c.78C>A p.S26= Synonymous 4/23 - 1
11-66639550-TG-T c.80del p.P27Qfs*38 Frameshift 4/23 - 1
11-66639554-G-A c.77C>T p.S26F Missense 4/23 - 1
11-66639554-GA-AG c.76_77delinsCT p.S26L Missense 4/23 - 3
11-66639554-GA-TC c.76_77inv p.S26D Missense 4/23 - 1
11-66639554-GA-TT c.76_77delinsAA p.S26N Missense 4/23 - 1
11-66639554-G-C c.77C>G p.S26C Missense 4/23 - 1
11-66639555-A-C c.76T>G p.S26A Missense 4/23 - 12
11-66639556-G-A c.75C>T p.A25= Synonymous 4/23 - 3
11-66639556-G-C c.75C>G p.A25= Synonymous 4/23 - 3
11-66639556-GGC-CCA c.73_75delinsTGG p.A25W Missense 4/23 - 1
11-66639556-GG-CT c.74_75delinsAG p.A25E Missense 4/23 - 1
11-66639556-GGC-TTA c.73_75delinsTAA p.A25* Nonsense 4/23 - 1
11-66639556-G-T c.75C>A p.A25= Synonymous 4/23 - 3
11-66639557-G-A c.74C>T p.A25V Missense 4/23 - 1
11-66639557-GC-AA c.73_74delinsTT p.A25F Missense 4/23 - 7
11-66639557-GC-AG c.73_74delinsCT p.A25L Missense 4/23 - 1
11-66639557-GC-CA c.73_74delinsTG p.A25C Missense 4/23 - 4
11-66639557-GC-TT c.73_74delinsAA p.A25N Missense 4/23 - 1
11-66639557-G-T c.74C>A p.A25D Missense 4/23 - 6
11-66639558-C-G c.73G>C p.A25P Missense 4/23 - 1
11-66639558-C-T c.73G>A p.A25T Missense 4/23 - 4
11-66639559-A-C c.72T>G p.A24= Synonymous 4/23 - 7
11-66639559-A-G c.72T>C p.A24= Synonymous 4/23 - 6
11-66639559-AG-CT c.71_72inv p.A24E Missense 4/23 - 3
11-66639559-AGC-TTG c.70_72delinsCAA p.A24Q Missense 4/23 - 1
11-66639559-A-T c.72T>A p.A24= Synonymous 4/23 - 6
11-66639560-G-C c.71C>G p.A24G Missense 4/23 - 1
11-66639560-GC-AA c.70_71delinsTT p.A24F Missense 4/23 - 5
11-66639560-GC-CA c.70_71delinsTG p.A24C Missense 4/23 - 6
11-66639560-GC-CG c.70_71delinsCG p.A24R Missense 4/23 - 2
11-66639560-GC-TG c.70_71delinsCA p.A24H Missense 4/23 - 1
11-66639560-G-T c.71C>A p.A24D Missense 4/23 - 1
11-66639563-G-A c.68C>T p.P23L Missense 4/23 - 1
11-66639563-GG-TC c.67_68delinsGA p.P23D Missense 4/23 - 1
11-66639563-G-T c.68C>A p.P23H Missense 4/23 - 22
11-66639564-G-A c.67C>T p.P23S Missense 4/23 - 4
11-66639564-G-C c.67C>G p.P23A Missense 4/23 - 3
11-66639564-G-T c.67C>A p.P23T Missense 4/23 - 3
11-66639561-CGG-C c.68_69del p.P23Rfs*12 Frameshift 4/23 - 1
11-66639565-G-A c.66C>T p.A22= Synonymous 4/23 - 3
11-66639565-G-C c.66C>G p.A22= Synonymous 4/23 - 3
11-66639565-GGC-CAT c.64_66delinsATG p.A22M Missense 4/23 - 1
11-66639565-GG-CT c.65_66delinsAG p.A22E Missense 4/23 - 1
11-66639565-G-T c.66C>A p.A22= Synonymous 4/23 - 3
11-66639566-G-A c.65C>T p.A22V Missense 4/23 - 1
11-66639566-GC-AA c.64_65delinsTT p.A22F Missense 4/23 - 2
11-66639566-GC-CA c.64_65delinsTG p.A22C Missense 4/23 - 3
11-66639566-GC-CG c.64_65delinsCG p.A22R Missense 4/23 - 1
11-66639566-GC-TG c.64_65delinsCA p.A22H Missense 4/23 - 1
11-66639566-G-T c.65C>A p.A22D Missense 4/23 - 2
11-66639567-C-A c.64G>T p.A22S Missense 4/23 - 1
11-66639567-C-G c.64G>C p.A22P Missense 4/23 - 1
11-66639568-G-A c.63C>T p.T21= Synonymous 4/23 - 2
11-66639568-G-C c.63C>G p.T21= Synonymous 4/23 - 1
11-66639568-G-T c.63C>A p.T21= Synonymous 4/23 - 1
11-66639569-G-A c.62C>T p.T21I Missense 4/23 - 1
11-66639569-G-T c.62C>A p.T21N Missense 4/23 - 2
11-66639569-GT-AG c.61_62delinsCT p.T21L Missense 4/23 - 1
11-66639569-GT-TC c.61_62delinsGA p.T21D Missense 4/23 - 1
11-66639570-T-C c.61A>G p.T21A Missense 4/23 - 1
11-66639571-G-A c.60C>T p.S20= Synonymous 4/23 - 1
11-66639571-G-C c.60C>G p.S20= Synonymous 4/23 - 1
11-66639571-GGA-CAT c.58_60delinsATG p.S20M Missense 4/23 - 2
11-66639571-GGA-CTC c.58_60delinsGAG p.S20E Missense 4/23 - 3
11-66639571-GG-TT c.59_60delinsAA p.S20* Nonsense 4/23 - 1
11-66639571-G-T c.60C>A p.S20= Synonymous 4/23 - 1
11-66639572-G-A c.59C>T p.S20F Missense 4/23 - 6
11-66639572-GA-CC c.58_59delinsGG p.S20G Missense 4/23 - 6
11-66639572-GA-TC c.58_59inv p.S20D Missense 4/23 - 8
11-66639572-GA-TT c.58_59delinsAA p.S20N Missense 4/23 - 2
11-66639572-G-C c.59C>G p.S20C Missense 4/23 - 13
11-66639572-G-T c.59C>A p.S20Y Missense 4/23 - 1
11-66639573-A-C c.58T>G p.S20A Missense 4/23 - 34
11-66639573-A-T c.58T>A p.S20T Missense 4/23 - 1
11-66639574-G-A c.57C>T p.T19= Synonymous 4/23 - 3
11-66639574-G-C c.57C>G p.T19= Synonymous 4/23 - 3
11-66639574-GG-CA c.56_57delinsTG p.T19M Missense 4/23 - 1
11-66639574-GG-CC c.56_57inv p.T19R Missense 4/23 - 53
11-66639574-GG-CT c.56_57delinsAG p.T19K Missense 4/23 - 1
11-66639574-G-T c.57C>A p.T19= Synonymous 4/23 - 3
11-66639575-G-A c.56C>T p.T19I Missense 4/23 - 3
11-66639575-G-T c.56C>A p.T19N Missense 4/23 - 9
11-66639576-T-C c.55A>G p.T19A Missense 4/23 - 2
11-66639576-T-G c.55A>C p.T19P Missense 4/23 - 1
11-66639577-TCG-AAA c.52_54delinsTTT p.R18F Missense 4/23 - 1
11-66639577-TCG-ACA c.52_54delinsTGT p.R18C Missense 4/23 - 2
11-66639577-TCG-GCT c.52_54delinsAGC p.R18S Missense 4/23 - 9
11-66639577-TCG-GTC c.52_54delinsGAC p.R18D Missense 4/23 - 2
11-66639578-C-A c.53G>T p.R18L Missense 4/23 - 1
11-66639578-CG-GC c.52_53delinsGC p.R18A Missense 4/23 - 5
11-66639578-CG-TC c.52_53delinsGA p.R18E Missense 4/23 - 2
11-66639578-CG-TT c.52_53delinsAA p.R18K Missense 4/23 - 1
11-66639578-C-T c.53G>A p.R18Q Missense 4/23 - 1
11-66639577-T-A c.54A>T p.R18= Synonymous 4/23 - 1
11-66639577-T-C c.54A>G p.R18= Synonymous 4/23 - 1
11-66639577-T-G c.54A>C p.R18= Synonymous 4/23 - 1
11-66639579-G-T c.52C>A p.R18= Synonymous 4/23 - 1
11-66639578-CG-C c.52del p.R18Efs*47 Frameshift 4/23 - 1
11-66639581-CG-GC c.49_50delinsGC p.R17A Missense 4/23 - 3
11-66639581-CG-TC c.49_50delinsGA p.R17D Missense 4/23 - 1
11-66639581-C-T c.50G>A p.R17H Missense 4/23 - 1
11-66639582-G-A c.49C>T p.R17C Missense 4/23 - 2
11-66639583-GA-CC c.47_48delinsGG p.I16R Missense 4/23 - 1
11-66639583-GAT-CTC c.46_48delinsGAG p.I16E Missense 4/23 - 1
11-66639584-A-C c.47T>G p.I16S Missense 4/23 - 3
11-66639584-A-G c.47T>C p.I16T Missense 4/23 - 2
11-66639584-AT-GC c.46_47delinsGC p.I16A Missense 4/23 - 1
11-66639585-T-A c.46A>T p.I16F Missense 4/23 - 1
11-66639585-T-G c.46A>C p.I16L Missense 4/23 - 2
11-66639585-T-TC c.45_46insG p.I16Dfs*20 Frameshift 4/23 - 1
11-66639587-C-A c.44G>T p.G15V Missense 4/23 - 2
11-66639587-CC-GG c.43_44inv p.G15P Missense 4/23 - 2
11-66639587-C-G c.44G>C p.G15A Missense 4/23 - 2
11-66639587-C-T c.44G>A p.G15E Missense 4/23 - 2
11-66639589-CAG-AAA c.40_42delinsTTT p.L14F Missense 4/23 - 1
11-66639590-AG-CA c.40_41delinsTG p.L14W Missense 4/23 - 1
11-66639590-AG-GC c.40_41delinsGC p.L14A Missense 4/23 - 1
11-66639590-AG-TC c.40_41delinsGA p.L14E Missense 4/23 - 3
11-66639592-GAG-CAT c.37_39delinsATG p.L13M Missense 4/23 - 1
11-66639592-GAG-CTC c.37_39inv p.L13E Missense 4/23 - 1
11-66639592-GAG-CTT c.37_39delinsAAG p.L13K Missense 4/23 - 1
11-66639593-AG-CA c.37_38delinsTG p.L13C Missense 4/23 - 1
11-66639593-AG-GC c.37_38delinsGC p.L13A Missense 4/23 - 54
11-66639593-A-T c.38T>A p.L13H Missense 4/23 - 1
11-66639595-C-A c.36G>T p.R12S Missense 4/23 - 1
11-66639595-CCT-ACA c.34_36delinsTGT p.R12C Missense 4/23 - 4
11-66639595-CCT-ATA c.34_36delinsTAT p.R12Y Missense 4/23 - 2
11-66639595-CCT-GTC c.34_36delinsGAC p.R12D Missense 4/23 - 1
11-66639595-C-G c.36G>C p.R12S Missense 4/23 - 1
11-66639595-C-T c.36G>A p.R12= Synonymous 4/23 - 2
11-66639597-T-G c.34A>C p.R12= Synonymous 4/23 - 2
11-66639596-C-A c.35G>T p.R12M Missense 4/23 - 2
11-66639596-C-G c.35G>C p.R12T Missense 4/23 - 1
11-66639596-C-T c.35G>A p.R12K Missense 4/23 - 4
11-66639596-CT-GC c.34_35delinsGC p.R12A Missense 4/23 - 5
11-66639596-CT-TC c.34_35delinsGA p.R12E Missense 4/23 - 1
11-66639596-CT-TG c.34_35delinsCA p.R12Q Missense 4/23 - 1
11-66639598-CAG-ACA c.31_33delinsTGT p.L11C Missense 4/23 - 1
11-66639599-A-G c.32T>C p.L11P Missense 4/23 - 1
11-66639599-AG-GA c.31_32delinsTC p.L11S Missense 4/23 - 2
11-66639599-AG-GC c.31_32delinsGC p.L11A Missense 4/23 - 4
11-66639601-GCC-CAT c.28_30delinsATG p.G10M Missense 4/23 - 3
11-66639601-GCC-CTT c.28_30delinsAAG p.G10K Missense 4/23 - 1
11-66639601-GCC-TCA c.28_30delinsTGA p.G10* Nonsense 4/23 - 1
11-66639602-C-A c.29G>T p.G10V Missense 4/23 - 1
11-66639602-CC-AG c.28_29delinsCT p.G10L Missense 4/23 - 3
11-66639602-CC-GG c.28_29inv p.G10P Missense 4/23 - 7
11-66639602-CC-TA c.28_29delinsTA p.G10Y Missense 4/23 - 2
11-66639602-CC-TG c.28_29delinsCA p.G10H Missense 4/23 - 4
11-66639602-C-T c.29G>A p.G10D Missense 4/23 - 2
11-66639603-C-A c.28G>T p.G10C Missense 4/23 - 3
11-66639603-C-G c.28G>C p.G10R Missense 4/23 - 2
11-66639601-G-GC c.29dup p.L11Pfs*25 Frameshift 4/23 - 1
11-66639608-T-G c.23A>C p.H8P Missense 4/23 - 2
11-66639610-G-A c.21C>T p.V7= Synonymous 4/23 - 3
11-66639610-G-C c.21C>G p.V7= Synonymous 4/23 - 3
11-66639610-G-T c.21C>A p.V7= Synonymous 4/23 - 3
11-66639611-AC-TT c.19_20delinsAA p.V7N Missense 4/23 - 2
11-66639612-C-T c.19G>A p.V7I Missense 4/23 - 3
11-66639613-T-A c.18A>T p.T6= Synonymous 4/23 - 6
11-66639613-T-C c.18A>G p.T6= Synonymous 4/23 - 6
11-66639613-T-G c.18A>C p.T6= Synonymous 4/23 - 6
11-66639616-TCG-CCA c.13_15delinsTGG p.R5W Missense 4/23 - 1
11-66639616-T-A c.15A>T p.R5= Synonymous 4/23 - 8
11-66639616-T-C c.15A>G p.R5= Synonymous 4/23 - 8
11-66639616-T-G c.15A>C p.R5= Synonymous 4/23 - 8
11-66639618-G-T c.13C>A p.R5= Synonymous 4/23 - 8
11-66639619-G-A c.12C>T p.F4= Synonymous 4/23 - 3
11-66639619-GGAA-G c.10_12del p.F4del InFrameDeletion 4/23 - 1
11-66639622-C-T c.9G>A p.K3= Synonymous 4/23 - 4
11-66639625-C-A c.6G>T p.L2= Synonymous 4/23 - 21
11-66639625-CA-AT c.5_6delinsAT p.L2H Missense 4/23 - 1
11-66639625-C-G c.6G>C p.L2= Synonymous 4/23 - 21
11-66639625-C-T c.6G>A p.L2= Synonymous 4/23 - 21
11-66639627-G-A c.4C>T p.L2= Synonymous 4/23 - 21
11-66639624-TCAG-T c.4_6del p.L2? InFrameDeletion 4/23 - 1
11-66639628-C-A c.3G>T p.M1? Missense 4/23 - 1
11-66639628-C-T c.3G>A p.M1? Missense 4/23 - 1
11-66639629-A-G c.2T>C p.M1? Missense 4/23 - 1
11-66639630-T-C c.1A>G p.M1? Missense 4/23 - 1
11-66640174-C-G c.1-544G>C - IntronicSNV - 3/22 1
11-66642396-C-T c.1-2766G>A - IntronicSNV - 3/22 2
11-66649612-A-G c.1-9982T>C - IntronicSNV - 3/22 3
11-66650248-C-A c.1-10618G>T - IntronicSNV - 3/22 1
11-66650248-C-T c.1-10618G>A - IntronicSNV - 3/22 1
11-66662731-G-A c.1-23101C>T - IntronicSNV - 3/22 6
11-66672854-G-T c.1-33224C>A - IntronicSNV - 3/22 1
11-66673079-T-C c.1-33449A>G - IntronicSNV - 3/22 1
11-66675990-A-C c.1-36360T>G - IntronicSNV - 3/22 1
11-66675990-A-G c.1-36360T>C - IntronicSNV - 3/22 1
11-66689820-C-T c.-1+30081G>A - intron_variant - 3/22 1
11-66690454-C-T c.-1+29447G>A - intron_variant - 3/22 1
11-66699622-G-A c.-1+20279C>T - intron_variant - 3/22 1
11-66699622-G-C c.-1+20279C>G - intron_variant - 3/22 1
11-66718431-C-G c.-1+1470G>C - intron_variant - 3/22 1
11-66718431-C-T c.-1+1470G>A - intron_variant - 3/22 1