PARP1

PARP1 poly(ADP-ribose) polymerase 1

Annotation transcript: NM_001618.4

2491 unique variant annotations were identified in 2668 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-226548417-C-A c.*744G>T - 3-UTRSNV 23/23 - 2
1-226548554-A-G c.*607T>C - 3-UTRSNV 23/23 - 29
1-226549066-C-T c.*95G>A - 3-UTRSNV 23/23 - 3
1-226549164-C-T c.3042G>A p.W1014* Nonsense 23/23 - 1
1-226549165-C-T c.3041G>A p.W1014* Nonsense 23/23 - 1
1-226549168-AG-TC c.3037_3038delinsGA p.L1013E Missense 23/23 - 1
1-226549169-G-A c.3037C>T p.L1013= Synonymous 23/23 - 2
1-226549169-G-T c.3037C>A p.L1013M Missense 23/23 - 8
1-226549170-G-A c.3036C>T p.S1012= Synonymous 23/23 - 1
1-226549170-G-C c.3036C>G p.S1012= Synonymous 23/23 - 1
1-226549170-G-T c.3036C>A p.S1012= Synonymous 23/23 - 1
1-226549171-G-A c.3035C>T p.S1012F Missense 23/23 - 3
1-226549174-G-C c.3032C>G p.T1011S Missense 23/23 - 1
1-226549175-T-A c.3031A>T p.T1011S Missense 23/23 - 2
1-226549177-T-C c.3029A>G p.K1010R Missense 23/23 - 2
1-226549177-T-G c.3029A>C p.K1010T Missense 23/23 - 1
1-226549183-T-C c.3023A>G p.N1008S Missense 23/23 - 6
1-226549184-T-C c.3022A>G p.N1008D Missense 23/23 - 1
1-226549185-G-A c.3021C>T p.F1007= Synonymous 23/23 - 3
1-226549186-A-G c.3020T>C p.F1007S Missense 23/23 - 1
1-226549185-G-C c.3021C>G p.F1007L Missense 23/23 - 1
1-226549185-G-T c.3021C>A p.F1007L Missense 23/23 - 1
1-226549187-A-G c.3019T>C p.F1007L Missense 23/23 - 1
1-226549191-C-G c.3015G>C p.L1005= Synonymous 23/23 - 1
1-226549193-G-C c.3013C>G p.L1005V Missense 23/23 - 1
1-226549194-T-A c.3012A>T p.K1004N Missense 23/23 - 1
1-226549194-T-G c.3012A>C p.K1004N Missense 23/23 - 1
1-226549195-T-G c.3011A>C p.K1004T Missense 23/23 - 2
1-226549199-G-C c.3007C>G p.L1003V Missense 23/23 - 1
1-226549202-G-A c.3004C>T p.L1002= Synonymous 23/23 - 2
1-226549204-T-A c.3002A>T p.Y1001F Missense 23/23 - 1
1-226549204-TA-CG c.3001_3002delinsCG p.Y1001R Missense 23/23 - 1
1-226549209-C-A c.2997G>T p.L999= Synonymous 23/23 - 1
1-226549209-C-G c.2997G>C p.L999= Synonymous 23/23 - 1
1-226549209-C-T c.2997G>A p.L999= Synonymous 23/23 - 1
1-226549211-G-A c.2995C>T p.L999= Synonymous 23/23 - 1
1-226549212-A-C c.2994T>G p.N998K Missense 23/23 - 1
1-226549212-A-T c.2994T>A p.N998K Missense 23/23 - 1
1-226549214-T-C c.2992A>G p.N998D Missense 23/23 - 1
1-226549212-A-AT c.2993dup p.N998Kfs*13 Frameshift 23/23 - 1
1-226549216-A-G c.2990T>C p.V997A Missense 23/23 - 1
1-226549218-C-T c.2988G>A p.Q996= Synonymous 23/23 - 1
1-226549222-G-T c.2984C>A p.A995D Missense 23/23 - 2
1-226549226-T-G c.2980A>C p.I994L Missense 23/23 - 1
1-226549227-A-C c.2979T>G p.D993E Missense 23/23 - 1
1-226549227-A-T c.2979T>A p.D993E Missense 23/23 - 1
1-226549228-T-G c.2978A>C p.D993A Missense 23/23 - 6
1-226549229-C-G c.2977G>C p.D993H Missense 23/23 - 2
1-226549231-T-A c.2975A>T p.Y992F Missense 23/23 - 1
1-226549234-A-G c.2972T>C p.V991A Missense 23/23 - 1
1-226549235-C-G c.2971G>C p.V991L Missense 23/23 - 3
1-226549240-TA-GC c.2965_2966delinsGC p.Y989A Missense 23/23 - 1
1-226549242-C-A c.2964G>T p.E988D Missense 23/23 - 1
1-226549242-C-G c.2964G>C p.E988D Missense 23/23 - 1
1-226549498-G-A c.2963+172C>T - IntronicSNV - 22/22 13
1-226549670-T-G c.2963A>C p.E988A Missense 22/23 - 14
1-226549671-C-G c.2962G>C p.E988Q Missense 22/23 - 29
1-226549671-C-T c.2962G>A p.E988K Missense 22/23 - 63
1-226549673-TT-GC c.2959_2960delinsGC p.N987A Missense 22/23 - 1
1-226549675-ATA-CTC c.2956_2958delinsGAG p.Y986E Missense 22/23 - 1
1-226549676-AT-A c.2957del p.Y986Lfs*12 Frameshift 22/23 - 1
1-226549676-T-C c.2957A>G p.Y986C Missense 22/23 - 1
1-226549676-T-G c.2957A>C p.Y986S Missense 22/23 - 6
1-226549677-A-G c.2956T>C p.Y986H Missense 22/23 - 7
1-226549679-A-G c.2954T>C p.L985P Missense 22/23 - 1
1-226549692-C-T c.2941G>A p.D981N Missense 22/23 - 3
1-226549695-T-C c.2938A>G p.N980D Missense 22/23 - 1
1-226549706-GA-AT c.2926_2927delinsAT p.S976I Missense 22/23 - 1
1-226549712-C-A c.2921G>T p.G974V Missense 22/23 - 1
1-226549713-C-G c.2920G>C p.G974R Missense 22/23 - 4
1-226549713-C-T c.2920G>A p.G974R Missense 22/23 - 5
1-226549714-G-A c.2919C>T p.T973= Synonymous 22/23 - 4
1-226549714-G-C c.2919C>G p.T973= Synonymous 22/23 - 1
1-226549714-G-T c.2919C>A p.T973= Synonymous 22/23 - 1
1-226549715-G-A c.2918C>T p.T973I Missense 22/23 - 1
1-226549717-CCC-ACA c.2914_2916delinsTGT p.G972C Missense 22/23 - 1
1-226549719-C-G c.2914G>C p.G972R Missense 22/23 - 7
1-226549719-C-T c.2914G>A p.G972R Missense 22/23 - 7
1-226549722-G-A c.2911C>T p.L971F Missense 22/23 - 5
1-226549724-G-A c.2909C>T p.P970L Missense 22/23 - 2
1-226549725-G-A c.2908C>T p.P970S Missense 22/23 - 2
1-226549728-C-T c.2905G>A p.V969I Missense 22/23 - 5
1-226549730-T-C c.2903A>G p.D968G Missense 22/23 - 1
1-226549732-T-C c.2901A>G p.V967= Synonymous 22/23 - 1
1-226549732-T-G c.2901A>C p.V967= Synonymous 22/23 - 1
1-226549736-C-A c.2897G>T p.G966V Missense 22/23 - 1
1-226549740-C-T c.2893G>A p.D965N Missense 22/23 - 2
1-226549754-G-T c.2879C>A p.A960D Missense 22/23 - 1
1-226549756-T-A c.2877A>T p.S959= Synonymous 22/23 - 1
1-226549756-T-C c.2877A>G p.S959= Synonymous 22/23 - 1
1-226549756-T-G c.2877A>C p.S959= Synonymous 22/23 - 1
1-226549757-G-A c.2876C>T p.S959L Missense 22/23 - 1
1-226549761-G-A c.2872C>T p.P958S Missense 22/23 - 4
1-226549767-G-A c.2866C>T p.P956S Missense 22/23 - 2
1-226549768-G-A c.2865C>T p.T955= Synonymous 22/23 - 1
1-226549768-G-C c.2865C>G p.T955= Synonymous 22/23 - 1
1-226549768-G-T c.2865C>A p.T955= Synonymous 22/23 - 1
1-226549769-G-T c.2864C>A p.T955N Missense 22/23 - 1
1-226549774-T-A c.2859A>T p.K953N Missense 22/23 - 1
1-226549774-T-G c.2859A>C p.K953N Missense 22/23 - 1
1-226549775-T-C c.2858A>G p.K953R Missense 22/23 - 1
1-226549777-G-A c.2856C>T p.G952= Synonymous 22/23 - 2
1-226549777-G-C c.2856C>G p.G952= Synonymous 22/23 - 1
1-226549777-G-T c.2856C>A p.G952= Synonymous 22/23 - 1
1-226549778-C-T c.2855G>A p.G952D Missense 22/23 - 1
1-226549782-A-C c.2851T>G p.L951V Missense 22/23 - 1
1-226549783-A-C c.2850T>G p.G950= Synonymous 22/23 - 1
1-226549783-A-G c.2850T>C p.G950= Synonymous 22/23 - 1
1-226549783-A-T c.2850T>A p.G950= Synonymous 22/23 - 1
1-226550191-C-T c.2849-407G>A - IntronicSNV - 21/22 2
1-226550437-G-A c.2848+363C>T - IntronicSNV - 21/22 1
1-226550437-G-C c.2848+363C>G - IntronicSNV - 21/22 1
1-226550442-T-C c.2848+358A>G - IntronicSNV - 21/22 1
1-226550442-T-G c.2848+358A>C - IntronicSNV - 21/22 1
1-226550553-ATT-A c.2848+245_2848+246del - IntronicDeletion - 21/22 1
1-226550553-AT-A c.2848+246del - IntronicDeletion - 21/22 2
1-226550741-C-G c.2848+59G>C - IntronicSNV - 21/22 5
1-226550741-C-T c.2848+59G>A - IntronicSNV - 21/22 8
1-226550800-C-G c.2848G>C p.G950R Missense 21/23 - 1
1-226550800-C-T c.2848G>A p.G950S Missense 21/23 - 1
1-226550802-T-C c.2846A>G p.K949R Missense 21/23 - 1
1-226550803-T-G c.2845A>C p.K949Q Missense 21/23 - 1
1-226550806-C-A c.2842G>T p.V948F Missense 21/23 - 2
1-226550806-C-T c.2842G>A p.V948I Missense 21/23 - 3
1-226550807-A-G c.2841T>C p.S947= Synonymous 21/23 - 1
1-226550811-T-C c.2837A>G p.H946R Missense 21/23 - 1
1-226550813-C-A c.2835G>T p.K945N Missense 21/23 - 1
1-226550813-C-G c.2835G>C p.K945N Missense 21/23 - 1
1-226550814-T-C c.2834A>G p.K945R Missense 21/23 - 1
1-226550817-C-T c.2831G>A p.G944D Missense 21/23 - 1
1-226550819-C-A c.2829G>T p.K943N Missense 21/23 - 2
1-226550821-T-TG c.2826dup p.K943Qfs*15 Frameshift 21/23 - 1
1-226550826-A-G c.2822T>C p.L941S Missense 21/23 - 1
1-226550828-C-T c.2820G>A p.K940= Synonymous 21/23 - 1
1-226550829-T-C c.2819A>G p.K940R Missense 21/23 - 27
1-226550829-T-G c.2819A>C p.K940T Missense 21/23 - 7
1-226550831-G-A c.2817C>T p.S939= Synonymous 21/23 - 4
1-226550833-T-A c.2815A>T p.S939C Missense 21/23 - 1
1-226550834-G-A c.2814C>T p.I938= Synonymous 21/23 - 2
1-226550835-ATATG-A c.2809_2812del p.H937Sfs*30 Frameshift 21/23 - 1
1-226550838-T-C c.2810A>G p.H937R Missense 21/23 - 2
1-226550840-T-A c.2808A>T p.S936= Synonymous 21/23 - 1
1-226550840-T-C c.2808A>G p.S936= Synonymous 21/23 - 2
1-226550840-T-G c.2808A>C p.S936= Synonymous 21/23 - 1
1-226550841-G-A c.2807C>T p.S936L Missense 21/23 - 1
1-226550842-A-AG c.2805_2806insC p.S936Lfs*22 Frameshift 21/23 - 1
1-226550845-C-T c.2803G>A p.A935T Missense 21/23 - 1
1-226550847-T-C c.2801A>G p.H934R Missense 21/23 - 1
1-226550849-C-A c.2799G>T p.K933N Missense 21/23 - 2
1-226550849-C-G c.2799G>C p.K933N Missense 21/23 - 1
1-226550852-C-A c.2796G>T p.L932= Synonymous 21/23 - 2
1-226550852-C-G c.2796G>C p.L932= Synonymous 21/23 - 2
1-226550852-C-T c.2796G>A p.L932= Synonymous 21/23 - 2
1-226550854-G-A c.2794C>T p.L932= Synonymous 21/23 - 2
1-226550853-A-G c.2795T>C p.L932P Missense 21/23 - 1
1-226550859-T-C c.2789A>G p.Y930C Missense 21/23 - 5
1-226550924-G-C c.2787-63C>G - IntronicSNV - 20/22 11
1-226551178-A-G c.2787-317T>C - IntronicSNV - 20/22 2
1-226551460-T-C c.2786+184A>G - IntronicSNV - 20/22 3
1-226551506-T-C c.2786+138A>G - IntronicSNV - 20/22 2
1-226551529-C-A c.2786+115G>T - IntronicSNV - 20/22 9
1-226551529-C-G c.2786+115G>C - IntronicSNV - 20/22 11
1-226551529-C-T c.2786+115G>A - IntronicSNV - 20/22 9
1-226551644-CAT-C c.2785_2786del p.M929Vfs*2 SpliceDonorDeletion 20/23 - 1
1-226551645-T-A c.2785A>T p.M929L Missense 20/23 - 1
1-226551651-C-A c.2779G>T p.G927* Nonsense 20/23 - 1
1-226551654-G-A c.2776C>T p.L926F Missense 20/23 - 1
1-226551656-GC-AG c.2773_2774delinsCT p.A925L Missense 20/23 - 2
1-226551658-A-T c.2772T>A p.V924= Synonymous 20/23 - 1
1-226551659-AC-CG c.2770_2771delinsCG p.V924R Missense 20/23 - 1
1-226551667-C-A c.2763G>T p.L921F Missense 20/23 - 1
1-226551667-C-G c.2763G>C p.L921F Missense 20/23 - 1
1-226551672-G-T c.2758C>A p.L920M Missense 20/23 - 1
1-226551674-A-G c.2756T>C p.I919T Missense 20/23 - 1
1-226551681-C-G c.2749G>C p.G917R Missense 20/23 - 1
1-226551684-T-A c.2746A>T p.I916L Missense 20/23 - 1
1-226551684-T-G c.2746A>C p.I916L Missense 20/23 - 1
1-226551687-G-A c.2743C>T p.P915S Missense 20/23 - 1
1-226551688-G-C c.2742C>G p.D914E Missense 20/23 - 1
1-226551688-G-T c.2742C>A p.D914E Missense 20/23 - 1
1-226551689-T-C c.2741A>G p.D914G Missense 20/23 - 1
1-226551690-C-G c.2740G>C p.D914H Missense 20/23 - 1
1-226551690-C-T c.2740G>A p.D914N Missense 20/23 - 1
1-226551691-TC-T c.2738del p.G913Efs*4 Frameshift 20/23 - 2
1-226551698-G-A c.2732C>T p.S911F Missense 20/23 - 1
1-226551699-A-C c.2731T>G p.S911A Missense 20/23 - 1
1-226551700-C-T c.2730G>A p.T910= Synonymous 20/23 - 1
1-226551701-G-A c.2729C>T p.T910M Missense 20/23 - 2
1-226551702-T-C c.2728A>G p.T910A Missense 20/23 - 5
1-226551702-T-G c.2728A>C p.T910P Missense 20/23 - 2
1-226551704-TG-GC c.2725_2726delinsGC p.H909A Missense 20/23 - 1
1-226551705-G-T c.2725C>A p.H909N Missense 20/23 - 1
1-226551707-CA-GC c.2722_2723delinsGC p.C908A Missense 20/23 - 1
1-226551707-CA-GT c.2722_2723delinsAC p.C908T Missense 20/23 - 1
1-226551707-C-T c.2723G>A p.C908Y Missense 20/23 - 2
1-226551708-A-G c.2722T>C p.C908R Missense 20/23 - 2
1-226551709-GTA-CTC c.2719_2721delinsGAG p.Y907E Missense 20/23 - 1
1-226551710-T-A c.2720A>T p.Y907F Missense 20/23 - 4
1-226551710-TA-GC c.2719_2720delinsGC p.Y907A Missense 20/23 - 4
1-226551710-TA-GT c.2719_2720delinsAC p.Y907T Missense 20/23 - 1
1-226551710-T-C c.2720A>G p.Y907C Missense 20/23 - 1
1-226551711-A-T c.2719T>A p.Y907N Missense 20/23 - 1
1-226551712-G-C c.2718C>G p.N906K Missense 20/23 - 1
1-226551713-T-C c.2717A>G p.N906S Missense 20/23 - 2
1-226551713-TT-GC c.2716_2717delinsGC p.N906A Missense 20/23 - 1
1-226551716-G-A c.2714C>T p.A905V Missense 20/23 - 2
1-226551717-C-T c.2713G>A p.A905T Missense 20/23 - 1
1-226551719-C-G c.2711G>C p.S904T Missense 20/23 - 4
1-226551719-C-T c.2711G>A p.S904N Missense 20/23 - 1
1-226551719-CT-GC c.2710_2711delinsGC p.S904A Missense 20/23 - 1
1-226551722-TT-GC c.2707_2708delinsGC p.K903A Missense 20/23 - 8
1-226551723-T-G c.2707A>C p.K903Q Missense 20/23 - 1
1-226551729-C-T c.2701G>A p.V901I Missense 20/23 - 1
1-226551734-T-A c.2696A>T p.D899V Missense 20/23 - 1
1-226551735-C-T c.2695G>A p.D899N Missense 20/23 - 4
1-226551737-G-A c.2693C>T p.A898V Missense 20/23 - 1
1-226551738-C-A c.2692G>T p.A898S Missense 20/23 - 2
1-226551738-C-T c.2692G>A p.A898T Missense 20/23 - 1
1-226551739-G-A c.2691C>T p.F897= Synonymous 20/23 - 3
1-226551740-AA-GC c.2689_2690delinsGC p.F897A Missense 20/23 - 1
1-226551743-T-A c.2687A>T p.Y896F Missense 20/23 - 1
1-226551743-TA-GC c.2686_2687delinsGC p.Y896A Missense 20/23 - 1
1-226551743-T-C c.2687A>G p.Y896C Missense 20/23 - 1
1-226551744-A-T c.2686T>A p.Y896N Missense 20/23 - 1
1-226551745-G-A c.2685C>T p.I895= Synonymous 20/23 - 2
1-226551745-G-T c.2685C>A p.I895= Synonymous 20/23 - 1
1-226551746-A-G c.2684T>C p.I895T Missense 20/23 - 4
1-226551746-AT-GC c.2683_2684delinsGC p.I895A Missense 20/23 - 1
1-226551747-T-C c.2683A>G p.I895V Missense 20/23 - 1
1-226551748-CCC-GTT c.2680_2682delinsAAC p.G894N Missense 20/23 - 1
1-226551749-CC-GT c.2680_2681delinsAC p.G894T Missense 20/23 - 8
1-226551750-C-A c.2680G>T p.G894W Missense 20/23 - 1
1-226551752-T-A c.2678A>T p.K893I Missense 20/23 - 5
1-226551752-T-C c.2678A>G p.K893R Missense 20/23 - 1
1-226551755-C-T c.2675G>A p.G892D Missense 20/23 - 1
1-226551756-CA-C c.2673del p.F891Lfs*26 Frameshift 20/23 - 1
1-226551762-T-C c.2668A>G p.M890V Missense 20/23 - 10
1-226551762-T-G c.2668A>C p.M890L Missense 20/23 - 1
1-226551764-T-A c.2666A>T p.Y889F Missense 20/23 - 1
1-226551764-TA-GC c.2665_2666delinsGC p.Y889A Missense 20/23 - 1
1-226551764-T-C c.2666A>G p.Y889C Missense 20/23 - 1
1-226551766-GCC-CCA c.2662_2664delinsTGG p.G888W Missense 20/23 - 6
1-226551767-C-T c.2663G>A p.G888D Missense 20/23 - 1
1-226551768-C-T c.2662G>A p.G888S Missense 20/23 - 1
1-226551770-G-A c.2660C>T p.T887I Missense 20/23 - 1
1-226551771-T-C c.2659A>G p.T887A Missense 20/23 - 2
1-226551897-A-G c.2659-126T>C - IntronicSNV - 19/22 1
1-226552068-G-A c.2659-297C>T - IntronicSNV - 19/22 2
1-226552631-T-C c.2658+72A>G - IntronicSNV - 19/22 1
1-226552705-C-T c.2656G>A p.V886M Missense 19/23 - 3
1-226552706-G-A c.2655C>T p.P885= Synonymous 19/23 - 1
1-226552706-G-C c.2655C>G p.P885= Synonymous 19/23 - 1
1-226552706-G-T c.2655C>A p.P885= Synonymous 19/23 - 1
1-226552707-GG-CC c.2653_2654inv p.P885G Missense 19/23 - 1
1-226552708-G-A c.2653C>T p.P885S Missense 19/23 - 2
1-226552708-G-C c.2653C>G p.P885A Missense 19/23 - 1
1-226552710-G-A c.2651C>T p.A884V Missense 19/23 - 1
1-226552712-T-G c.2649A>C p.E883D Missense 19/23 - 1
1-226552713-T-G c.2648A>C p.E883A Missense 19/23 - 1
1-226552714-C-G c.2647G>C p.E883Q Missense 19/23 - 2
1-226552716-G-A c.2645C>T p.P882L Missense 19/23 - 6
1-226552716-G-C c.2645C>G p.P882R Missense 19/23 - 4
1-226552716-GG-CC c.2644_2645inv p.P882G Missense 19/23 - 1
1-226552719-G-A c.2642C>T p.P881L Missense 19/23 - 6
1-226552720-G-GA c.2640_2641insT p.P881Sfs*3 Frameshift 19/23 - 1
1-226552721-G-A c.2640C>T p.A880= Synonymous 19/23 - 2
1-226552727-CC-AT c.2633_2634delinsAT p.R878H Missense 19/23 - 6
1-226552728-C-T c.2633G>A p.R878Q Missense 19/23 - 1
1-226552729-G-A c.2632C>T p.R878W Missense 19/23 - 8
1-226552731-AG-GC c.2629_2630delinsGC p.L877A Missense 19/23 - 7
1-226552732-G-A c.2629C>T p.L877F Missense 19/23 - 3
1-226552734-CC-TT c.2626_2627delinsAA p.G876N Missense 19/23 - 1
1-226552734-C-T c.2627G>A p.G876D Missense 19/23 - 1
1-226552735-C-T c.2626G>A p.G876S Missense 19/23 - 5
1-226552738-G-A c.2623C>T p.Q875* Nonsense 19/23 - 2
1-226552738-G-T c.2623C>A p.Q875K Missense 19/23 - 1
1-226552739-G-A c.2622C>T p.S874= Synonymous 19/23 - 1
1-226552739-G-C c.2622C>G p.S874= Synonymous 19/23 - 1
1-226552739-G-T c.2622C>A p.S874= Synonymous 19/23 - 1
1-226552741-A-C c.2620T>G p.S874A Missense 19/23 - 1
1-226552744-G-T c.2617C>A p.L873M Missense 19/23 - 1
1-226552749-CC-TA c.2611_2612delinsTA p.G871* Nonsense 19/23 - 1
1-226552750-C-G c.2611G>C p.G871R Missense 19/23 - 1
1-226552750-C-T c.2611G>A p.G871R Missense 19/23 - 1
1-226552752-G-A c.2609C>T p.A870V Missense 19/23 - 1
1-226552752-G-C c.2609C>G p.A870G Missense 19/23 - 4
1-226552762-T-C c.2599A>G p.T867A Missense 19/23 - 1
1-226552764-G-A c.2597C>T p.T866I Missense 19/23 - 1
1-226552766-C-A c.2595G>T p.R865S Missense 19/23 - 1
1-226552766-CCT-ATG c.2593_2595delinsCAT p.R865H Missense 19/23 - 1
1-226552766-C-G c.2595G>C p.R865S Missense 19/23 - 1
1-226552767-CT-GC c.2593_2594delinsGC p.R865A Missense 19/23 - 1
1-226552771-A-C c.2590T>G p.S864A Missense 19/23 - 1
1-226552772-C-G c.2589G>C p.G863= Synonymous 19/23 - 1
1-226552773-C-G c.2588G>C p.G863A Missense 19/23 - 1
1-226552775-G-A c.2586C>T p.H862= Synonymous 19/23 - 4
1-226552776-TG-GC c.2584_2585delinsGC p.H862A Missense 19/23 - 4
1-226552777-G-C c.2584C>G p.H862D Missense 19/23 - 1
1-226552778-C-A c.2583G>T p.W861C Missense 19/23 - 1
1-226552778-C-G c.2583G>C p.W861C Missense 19/23 - 1
1-226552779-CA-GC c.2581_2582delinsGC p.W861A Missense 19/23 - 1
1-226552780-A-G c.2581T>C p.W861R Missense 19/23 - 1
1-226552780-A-T c.2581T>A p.W861R Missense 19/23 - 1
1-226552783-G-C c.2578C>G p.L860V Missense 19/23 - 1
1-226552785-AA-CT c.2575_2576delinsAG p.L859R Missense 19/23 - 1
1-226552786-A-C c.2575T>G p.L859V Missense 19/23 - 1
1-226552791-CG-TC c.2569_2570delinsGA p.R857E Missense 19/23 - 1
1-226552791-C-T c.2570G>A p.R857Q Missense 19/23 - 10
1-226552792-G-A c.2569C>T p.R857* Nonsense 19/23 - 1
1-226552793-G-C c.2568C>G p.N856K Missense 19/23 - 2
1-226552793-G-T c.2568C>A p.N856K Missense 19/23 - 2
1-226552798-G-T c.2563C>A p.H855N Missense 19/23 - 2
1-226552800-A-C c.2561T>G p.L854R Missense 19/23 - 1
1-226552801-G-C c.2560C>G p.L854V Missense 19/23 - 1
1-226552802-C-A c.2559G>T p.Q853H Missense 19/23 - 1
1-226552802-C-G c.2559G>C p.Q853H Missense 19/23 - 1
1-226552804-G-A c.2557C>T p.Q853* Nonsense 19/23 - 2
1-226552806-T-A c.2555A>T p.K852M Missense 19/23 - 1
1-226552806-T-C c.2555A>G p.K852R Missense 19/23 - 1
1-226552807-T-A c.2554A>T p.K852* Nonsense 19/23 - 1
1-226552807-T-C c.2554A>G p.K852E Missense 19/23 - 1
1-226552809-AA-GC c.2551_2552delinsGC p.F851A Missense 19/23 - 1
1-226552811-G-A c.2550C>T p.P850= Synonymous 19/23 - 1
1-226552811-G-C c.2550C>G p.P850= Synonymous 19/23 - 1
1-226552811-G-T c.2550C>A p.P850= Synonymous 19/23 - 1
1-226552812-G-A c.2549C>T p.P850L Missense 19/23 - 3
1-226552815-T-G c.2546A>C p.K849T Missense 19/23 - 1
1-226552820-ACG-CTT c.2539_2541delinsAAG p.R847K Missense 19/23 - 1
1-226552821-C-T c.2540G>A p.R847H Missense 19/23 - 2
1-226552822-G-A c.2539C>T p.R847C Missense 19/23 - 4
1-226552825-G-A c.2536C>T p.Q846* Nonsense 19/23 - 1
1-226552827-CA-GC c.2533_2534delinsGC p.C845A Missense 19/23 - 1
1-226552832-G-A c.2529C>T p.G843= Synonymous 19/23 - 4
1-226552832-G-C c.2529C>G p.G843= Synonymous 19/23 - 5
1-226552832-G-T c.2529C>A p.G843= Synonymous 19/23 - 3
1-226552833-C-T c.2528G>A p.G843D Missense 19/23 - 1
1-226552834-C-T c.2527G>A p.G843S Missense 19/23 - 1
1-226552837-C-A c.2524G>T p.E842* Nonsense 19/23 - 1
1-226552837-C-T c.2524G>A p.E842K Missense 19/23 - 3
1-226552838-ACG-CTT c.2521_2523delinsAAG p.R841K Missense 19/23 - 1
1-226552839-C-A c.2522G>T p.R841L Missense 19/23 - 1
1-226552842-T-G c.2519A>C p.E840A Missense 19/23 - 2
1-226552853-G-A c.2508C>T p.I836= Synonymous 19/23 - 1
1-226552853-G-T c.2508C>A p.I836= Synonymous 19/23 - 1
1-226553473-A-C c.2505+182T>G - IntronicSNV - 18/22 1
1-226553467-C-CA c.2505+187dup - IntronicInsertion - 18/22 1
1-226553473-AAAAAAC-A c.2505+176_2505+181del - IntronicDeletion - 18/22 1
1-226553479-C-CA c.2505+175dup - IntronicInsertion - 18/22 1
1-226553485-A-C c.2505+170T>G - IntronicSNV - 18/22 1
1-226553483-AAAC-A c.2505+169_2505+171del - IntronicDeletion - 18/22 1
1-226553484-AAC-A c.2505+169_2505+170del - IntronicDeletion - 18/22 1
1-226553486-C-A c.2505+169G>T - IntronicSNV - 18/22 2
1-226553487-AAACAAAC-A c.2505+161_2505+167del - IntronicDeletion - 18/22 1
1-226553490-C-A c.2505+165G>T - IntronicSNV - 18/22 2
1-226553491-AAAC-A c.2505+161_2505+163del - IntronicDeletion - 18/22 2
1-226553494-C-CAAAAAAAAA c.2505+152_2505+160dup - IntronicInsertion - 18/22 2
1-226553494-C-CAAA c.2505+158_2505+160dup - IntronicInsertion - 18/22 2
1-226553494-C-CAA c.2505+159_2505+160dup - IntronicInsertion - 18/22 2
1-226553494-C-CA c.2505+160dup - IntronicInsertion - 18/22 3
1-226553528-A-G c.2505+127T>C - IntronicSNV - 18/22 1
1-226553580-A-G c.2505+75T>C - IntronicSNV - 18/22 1
1-226553654-C-T c.2505+1G>A - IntronicSNV - 18/22 1
1-226553657-C-A c.2503G>T p.D835Y Missense 18/23 - 2
1-226553657-C-G c.2503G>C p.D835H Missense 18/23 - 1
1-226553657-C-T c.2503G>A p.D835N Missense 18/23 - 2
1-226553663-C-T c.2497G>A p.V833I Missense 18/23 - 2
1-226553666-C-T c.2494G>A p.E832K Missense 18/23 - 1
1-226553670-G-A c.2490C>T p.D830= Synonymous 18/23 - 1
1-226553672-C-G c.2488G>C p.D830H Missense 18/23 - 1
1-226553674-T-A c.2486A>T p.Y829F Missense 18/23 - 1
1-226553675-A-T c.2485T>A p.Y829N Missense 18/23 - 2
1-226553677-G-A c.2483C>T p.A828V Missense 18/23 - 3
1-226553678-C-T c.2482G>A p.A828T Missense 18/23 - 5
1-226553682-GTG-CTC c.2476_2478delinsGAG p.H826E Missense 18/23 - 1
1-226553683-TG-GC c.2476_2477delinsGC p.H826A Missense 18/23 - 1
1-226553689-G-A c.2471C>T p.T824I Missense 18/23 - 1
1-226553690-T-C c.2470A>G p.T824A Missense 18/23 - 3
1-226553689-G-GT c.2470dup p.T824Nfs*7 Frameshift 18/23 - 1
1-226553694-A-G c.2466T>C p.H822= Synonymous 18/23 - 1
1-226553698-G-A c.2462C>T p.T821I Missense 18/23 - 1
1-226553699-T-C c.2461A>G p.T821A Missense 18/23 - 1
1-226553702-T-C c.2458A>G p.N820D Missense 18/23 - 2
1-226553708-C-A c.2452G>T p.V818F Missense 18/23 - 1
1-226553715-CCT-ATG c.2443_2445delinsCAT p.R815H Missense 18/23 - 1
1-226553716-C-G c.2444G>C p.R815T Missense 18/23 - 1
1-226553720-T-C c.2440A>G p.I814V Missense 18/23 - 5
1-226553721-G-A c.2439C>T p.I813= Synonymous 18/23 - 2
1-226553721-G-C c.2439C>G p.I813M Missense 18/23 - 1
1-226553722-A-G c.2438T>C p.I813T Missense 18/23 - 1
1-226553726-C-A c.2434G>T p.E812* Nonsense 18/23 - 1
1-226553727-G-A c.2433C>T p.A811= Synonymous 18/23 - 1
1-226553729-C-T c.2431G>A p.A811T Missense 18/23 - 2
1-226553735-C-T c.2425G>A p.E809K Missense 18/23 - 4
1-226553737-GA-AG c.2422_2423delinsCT p.S808L Missense 18/23 - 1
1-226553737-G-C c.2423C>G p.S808C Missense 18/23 - 5
1-226553738-A-T c.2422T>A p.S808T Missense 18/23 - 4
1-226553739-ATC-A c.2419_2420del p.D807Ffs*2 Frameshift 18/23 - 1
1-226553744-T-C c.2416A>G p.R806G Missense 18/23 - 1
1-226553746-T-A c.2414A>T p.D805V Missense 18/23 - 1
1-226553747-C-T c.2413G>A p.D805N Missense 18/23 - 3
1-226553748-A-G c.2412T>C p.V804= Synonymous 18/23 - 1
1-226553750-C-A c.2410G>T p.V804F Missense 18/23 - 2
1-226553750-C-T c.2410G>A p.V804I Missense 18/23 - 1
1-226553752-A-G c.2408T>C p.V803A Missense 18/23 - 2
1-226553753-C-T c.2407G>A p.V803M Missense 18/23 - 1
1-226553934-A-C c.2407-181T>G - IntronicSNV - 17/22 4
1-226554265-T-C c.2407-512A>G - IntronicSNV - 17/22 1
1-226554951-T-C c.2406+230A>G - IntronicSNV - 17/22 4
1-226555181-C-A c.2406G>T p.K802N Missense 17/23 - 1
1-226555181-C-G c.2406G>C p.K802N Missense 17/23 - 1
1-226555183-T-C c.2404A>G p.K802E Missense 17/23 - 1
1-226555189-C-T c.2398G>A p.D800N Missense 17/23 - 5
1-226555191-G-A c.2396C>T p.T799I Missense 17/23 - 1
1-226555194-T-C c.2393A>G p.K798R Missense 17/23 - 4
1-226555191-GT-G c.2395del p.T799Lfs*41 Frameshift 17/23 - 2
1-226555195-T-A c.2392A>T p.K798* Nonsense 17/23 - 2
1-226555200-TT-AG c.2386_2387delinsCT p.K796L Missense 17/23 - 1
1-226555203-T-A c.2384A>T p.E795V Missense 17/23 - 1
1-226555204-C-G c.2383G>C p.E795Q Missense 17/23 - 1
1-226555205-A-C c.2382T>G p.Y794* Nonsense 17/23 - 1
1-226555205-A-T c.2382T>A p.Y794* Nonsense 17/23 - 2
1-226555209-T-C c.2378A>G p.N793S Missense 17/23 - 1
1-226555213-C-G c.2374G>C p.V792L Missense 17/23 - 1
1-226555214-A-T c.2373T>A p.D791E Missense 17/23 - 1
1-226555216-C-G c.2371G>C p.D791H Missense 17/23 - 1
1-226555216-C-T c.2371G>A p.D791N Missense 17/23 - 6
1-226555217-G-A c.2370C>T p.I790= Synonymous 17/23 - 6
1-226555217-G-T c.2370C>A p.I790= Synonymous 17/23 - 2
1-226555221-G-A c.2366C>T p.P789L Missense 17/23 - 1
1-226555224-T-C c.2363A>G p.D788G Missense 17/23 - 1
1-226555225-C-T c.2362G>A p.D788N Missense 17/23 - 1
1-226555230-C-A c.2357G>T p.S786I Missense 17/23 - 2
1-226555233-C-T c.2354G>A p.S785N Missense 17/23 - 1
1-226555236-T-C c.2351A>G p.D784G Missense 17/23 - 1
1-226555236-T-G c.2351A>C p.D784A Missense 17/23 - 1
1-226555237-C-T c.2350G>A p.D784N Missense 17/23 - 2
1-226555238-A-T c.2349T>A p.D783E Missense 17/23 - 2
1-226555239-T-C c.2348A>G p.D783G Missense 17/23 - 2
1-226555240-C-G c.2347G>C p.D783H Missense 17/23 - 1
1-226555242-G-C c.2345C>G p.S782C Missense 17/23 - 1
1-226555252-T-G c.2335A>C p.R779= Synonymous 17/23 - 1
1-226555255-G-A c.2332C>T p.L778F Missense 17/23 - 3
1-226555256-C-A c.2331G>T p.L777= Synonymous 17/23 - 1
1-226555256-C-G c.2331G>C p.L777= Synonymous 17/23 - 1
1-226555256-C-T c.2331G>A p.L777= Synonymous 17/23 - 1
1-226555258-G-A c.2329C>T p.L777= Synonymous 17/23 - 2
1-226555261-T-A c.2326A>T p.S776C Missense 17/23 - 1
1-226555261-T-C c.2326A>G p.S776G Missense 17/23 - 2
1-226555263-T-A c.2324A>T p.Y775F Missense 17/23 - 1
1-226555266-G-A c.2321C>T p.A774V Missense 17/23 - 5
1-226555267-C-A c.2320G>T p.A774S Missense 17/23 - 1
1-226555273-C-T c.2314G>A p.E772K Missense 17/23 - 4
1-226555274-G-A c.2313C>T p.I771= Synonymous 17/23 - 1
1-226555274-G-C c.2313C>G p.I771M Missense 17/23 - 1
1-226555274-G-T c.2313C>A p.I771= Synonymous 17/23 - 1
1-226555275-A-T c.2312T>A p.I771N Missense 17/23 - 1
1-226555278-T-G c.2309A>C p.D770A Missense 17/23 - 1
1-226555279-C-T c.2308G>A p.D770N Missense 17/23 - 1
1-226555281-A-C c.2306T>G p.L769R Missense 17/23 - 1
1-226555283-CAG-AAA c.2302_2304delinsTTT p.L768F Missense 17/23 - 1
1-226555284-AG-GC c.2302_2303delinsGC p.L768A Missense 17/23 - 1
1-226555290-T-G c.2297A>C p.D766A Missense 17/23 - 1
1-226555291-C-G c.2296G>C p.D766H Missense 17/23 - 1
1-226555291-C-T c.2296G>A p.D766N Missense 17/23 - 6
1-226555293-AG-GC c.2293_2294delinsGC p.L765A Missense 17/23 - 2
1-226555294-G-A c.2293C>T p.L765F Missense 17/23 - 1
1-226555294-G-C c.2293C>G p.L765V Missense 17/23 - 1
1-226555295-C-A c.2292G>T p.M764I Missense 17/23 - 2
1-226555295-C-G c.2292G>C p.M764I Missense 17/23 - 1
1-226555295-C-T c.2292G>A p.M764I Missense 17/23 - 1
1-226555299-T-G c.2288A>C p.E763A Missense 17/23 - 2
1-226555300-C-T c.2287G>A p.E763K Missense 17/23 - 1
1-226555301-C-A c.2286G>T p.V762= Synonymous 17/23 - 3
1-226555301-C-G c.2286G>C p.V762= Synonymous 17/23 - 3
1-226555301-C-T c.2286G>A p.V762= Synonymous 17/23 - 3
1-226555302-A-G c.2285T>C p.V762A Missense 17/23 - 235
1-226555304-C-A c.2283G>T p.K761N Missense 17/23 - 1
1-226555304-C-G c.2283G>C p.K761N Missense 17/23 - 1
1-226555305-T-A c.2282A>T p.K761M Missense 17/23 - 1
1-226555305-T-C c.2282A>G p.K761R Missense 17/23 - 2
1-226555308-G-T c.2279C>A p.A760D Missense 17/23 - 1
1-226555309-C-T c.2278G>A p.A760T Missense 17/23 - 2
1-226555348-G-A c.2278-39C>T - IntronicSNV - 16/22 6
1-226555348-G-T c.2278-39C>A - IntronicSNV - 16/22 6
1-226555801-T-C c.2277+99A>G - IntronicSNV - 16/22 1
1-226555837-G-A c.2277+63C>T - IntronicSNV - 16/22 1
1-226555897-CTACCTG-C c.2275_2277+3del - SpliceDonorDeletion 16/23 16/22 1
1-226555901-TG-GC c.2275_2276delinsGC p.Q759A Missense 16/23 - 1
1-226555902-G-T c.2275C>A p.Q759K Missense 16/23 - 1
1-226555905-C-G c.2272G>C p.V758L Missense 16/23 - 1
1-226555907-CT-GC c.2269_2270delinsGC p.S757A Missense 16/23 - 2
1-226555907-CT-TC c.2269_2270delinsGA p.S757D Missense 16/23 - 1
1-226555908-T-A c.2269A>T p.S757C Missense 16/23 - 2
1-226555909-GTC-CTT c.2266_2268delinsAAG p.D756K Missense 16/23 - 1
1-226555910-T-G c.2267A>C p.D756A Missense 16/23 - 1
1-226555911-C-A c.2266G>T p.D756Y Missense 16/23 - 1
1-226555913-G-T c.2264C>A p.A755E Missense 16/23 - 1
1-226555916-T-C c.2261A>G p.N754S Missense 16/23 - 2
1-226555917-T-C c.2260A>G p.N754D Missense 16/23 - 1
1-226555919-T-C c.2258A>G p.N753S Missense 16/23 - 1
1-226555921-TC-T c.2256del p.N753Tfs*87 Frameshift 16/23 - 1
1-226555924-GAG-CCA c.2251_2253delinsTGG p.L751W Missense 16/23 - 1
1-226555925-AG-TC c.2251_2252delinsGA p.L751D Missense 16/23 - 1
1-226555926-G-A c.2251C>T p.L751F Missense 16/23 - 1
1-226555927-C-A c.2250G>T p.P750= Synonymous 16/23 - 1
1-226555927-C-G c.2250G>C p.P750= Synonymous 16/23 - 1
1-226555927-C-T c.2250G>A p.P750= Synonymous 16/23 - 3
1-226555928-G-A c.2249C>T p.P750L Missense 16/23 - 3
1-226555928-G-C c.2249C>G p.P750R Missense 16/23 - 1
1-226555931-G-A c.2246C>T p.P749L Missense 16/23 - 4
1-226555932-G-A c.2245C>T p.P749S Missense 16/23 - 1
1-226555936-C-G c.2241G>C p.K747N Missense 16/23 - 1
1-226555943-C-G c.2234G>C p.G745A Missense 16/23 - 1
1-226555949-TC-AA c.2227_2228delinsTT p.D743F Missense 16/23 - 1
1-226555950-C-A c.2227G>T p.D743Y Missense 16/23 - 1
1-226555950-C-T c.2227G>A p.D743N Missense 16/23 - 1
1-226555951-G-A c.2226C>T p.H742= Synonymous 16/23 - 3
1-226555957-G-A c.2220C>T p.I740= Synonymous 16/23 - 5
1-226555957-G-T c.2220C>A p.I740= Synonymous 16/23 - 1
1-226555958-A-G c.2219T>C p.I740T Missense 16/23 - 1
1-226555960-C-A c.2217G>T p.L739= Synonymous 16/23 - 1
1-226555960-C-G c.2217G>C p.L739= Synonymous 16/23 - 1
1-226555960-C-T c.2217G>A p.L739= Synonymous 16/23 - 1
1-226555962-G-A c.2215C>T p.L739= Synonymous 16/23 - 1
1-226555963-G-A c.2214C>T p.T738= Synonymous 16/23 - 3
1-226555963-G-C c.2214C>G p.T738= Synonymous 16/23 - 1
1-226555963-GG-CA c.2213_2214delinsTG p.T738M Missense 16/23 - 1
1-226555963-G-T c.2214C>A p.T738= Synonymous 16/23 - 1
1-226555964-G-A c.2213C>T p.T738I Missense 16/23 - 1
1-226555969-A-G c.2208T>C p.F736= Synonymous 16/23 - 1
1-226555969-A-T c.2208T>A p.F736L Missense 16/23 - 1
1-226555971-A-G c.2206T>C p.F736L Missense 16/23 - 1
1-226555972-GCG-TCA c.2203_2205delinsTGA p.R735* Nonsense 16/23 - 1
1-226555973-C-A c.2204G>T p.R735L Missense 16/23 - 1
1-226555973-C-T c.2204G>A p.R735H Missense 16/23 - 1
1-226555974-G-A c.2203C>T p.R735C Missense 16/23 - 8
1-226555977-T-A c.2200A>T p.N734Y Missense 16/23 - 1
1-226555983-G-C c.2194C>G p.L732V Missense 16/23 - 1
1-226555987-C-A c.2190G>T p.L730= Synonymous 16/23 - 1
1-226555987-C-G c.2190G>C p.L730= Synonymous 16/23 - 1
1-226555987-C-T c.2190G>A p.L730= Synonymous 16/23 - 1
1-226555989-G-A c.2188C>T p.L730= Synonymous 16/23 - 1
1-226555992-T-G c.2185A>C p.I729L Missense 16/23 - 1
1-226555993-C-A c.2184G>T p.Q728H Missense 16/23 - 1
1-226555993-C-G c.2184G>C p.Q728H Missense 16/23 - 1
1-226555996-GAGA-G c.2179_2181del p.S727del InFrameDeletion 16/23 - 1
1-226555997-GA-TC c.2179_2180inv p.S727D Missense 16/23 - 1
1-226555997-G-T c.2180C>A p.S727Y Missense 16/23 - 1
1-226555998-A-C c.2179T>G p.S727A Missense 16/23 - 2
1-226556002-G-A c.2175C>T p.S725= Synonymous 16/23 - 1
1-226556002-G-C c.2175C>G p.S725R Missense 16/23 - 1
1-226556002-G-T c.2175C>A p.S725R Missense 16/23 - 1
1-226556004-T-G c.2173A>C p.S725R Missense 16/23 - 1
1-226556003-C-A c.2174G>T p.S725I Missense 16/23 - 1
1-226556006-CT-GC c.2170_2171delinsGC p.S724A Missense 16/23 - 2
1-226556006-CT-TC c.2170_2171delinsGA p.S724D Missense 16/23 - 1
1-226556009-C-G c.2168G>C p.G723A Missense 16/23 - 1
1-226556009-C-T c.2168G>A p.G723D Missense 16/23 - 1
1-226556010-C-T c.2167G>A p.G723S Missense 16/23 - 1
1-226556011-C-T c.2166G>A p.Q722= Synonymous 16/23 - 2
1-226556015-G-A c.2162C>T p.S721F Missense 16/23 - 1
1-226556016-A-C c.2161T>G p.S721A Missense 16/23 - 1
1-226556016-A-G c.2161T>C p.S721P Missense 16/23 - 1
1-226556018-A-T c.2159T>A p.V720E Missense 16/23 - 2
1-226556021-G-A c.2156C>T p.A719V Missense 16/23 - 3
1-226556021-G-C c.2156C>G p.A719G Missense 16/23 - 1
1-226556094-T-C c.2155-72A>G - IntronicSNV - 15/22 8
1-226556114-C-A c.2155-92G>T - IntronicSNV - 15/22 1
1-226556150-G-A c.2155-128C>T - IntronicSNV - 15/22 1
1-226556150-G-T c.2155-128C>A - IntronicSNV - 15/22 1
1-226556164-G-A c.2155-142C>T - IntronicSNV - 15/22 1
1-226556443-A-C c.2155-421T>G - IntronicSNV - 15/22 7
1-226556443-A-T c.2155-421T>A - IntronicSNV - 15/22 7
1-226556941-C-T c.2155-919G>A - IntronicSNV - 15/22 1
1-226557669-G-GA c.2154+465dup - IntronicInsertion - 15/22 1
1-226557669-G-GAAAAAAAA c.2154+465_2154+466insTTTTTTTT - IntronicInsertion - 15/22 1
1-226557878-T-C c.2154+257A>G - IntronicSNV - 15/22 4
1-226558131-T-C c.2154+4A>G - IntronicSNV - 15/22 1
1-226558132-T-C c.2154+3A>G - IntronicSNV - 15/22 1
1-226558137-G-A c.2152C>T p.Q718* Nonsense 15/23 - 1
1-226558139-TG-GC c.2149_2150delinsGC p.Q717A Missense 15/23 - 1
1-226558142-AC-GT c.2146_2147inv p.V716T Missense 15/23 - 1
1-226558142-AC-A c.2146del p.V716Sfs*24 Frameshift 15/23 - 1
1-226558148-CT-AG c.2140_2141inv p.S714L Missense 15/23 - 1
1-226558148-CT-GC c.2140_2141delinsGC p.S714A Missense 15/23 - 1
1-226558151-AG-GC c.2137_2138delinsGC p.L713A Missense 15/23 - 1
1-226558152-G-A c.2137C>T p.L713F Missense 15/23 - 10
1-226558164-C-T c.2125G>A p.A709T Missense 15/23 - 6
1-226558165-G-A c.2124C>T p.A708= Synonymous 15/23 - 3
1-226558165-G-C c.2124C>G p.A708= Synonymous 15/23 - 2
1-226558165-G-T c.2124C>A p.A708= Synonymous 15/23 - 2
1-226558166-G-A c.2123C>T p.A708V Missense 15/23 - 1
1-226558169-T-C c.2120A>G p.Q707R Missense 15/23 - 1
1-226558174-C-T c.2115G>A p.Q705= Synonymous 15/23 - 1
1-226558176-G-A c.2113C>T p.Q705* Nonsense 15/23 - 1
1-226558176-G-T c.2113C>A p.Q705K Missense 15/23 - 3
1-226558178-C-T c.2111G>A p.R704K Missense 15/23 - 1
1-226558180-T-A c.2109A>T p.K703N Missense 15/23 - 1
1-226558180-T-G c.2109A>C p.K703N Missense 15/23 - 1
1-226558181-TT-GC c.2107_2108delinsGC p.K703A Missense 15/23 - 1
1-226558182-T-C c.2107A>G p.K703E Missense 15/23 - 1
1-226558184-C-T c.2105G>A p.S702N Missense 15/23 - 1
1-226558186-C-A c.2103G>T p.L701= Synonymous 15/23 - 1
1-226558186-CA-AT c.2102_2103delinsAT p.L701H Missense 15/23 - 8
1-226558186-CAG-AAA c.2101_2103delinsTTT p.L701F Missense 15/23 - 1
1-226558186-C-G c.2103G>C p.L701= Synonymous 15/23 - 1
1-226558189-C-T c.2100G>A p.K700= Synonymous 15/23 - 1
1-226558189-CTT-ACA c.2098_2100delinsTGT p.K700C Missense 15/23 - 1
1-226558190-TT-AG c.2098_2099delinsCT p.K700L Missense 15/23 - 1
1-226558191-T-C c.2098A>G p.K700E Missense 15/23 - 6
1-226558191-T-G c.2098A>C p.K700Q Missense 15/23 - 1
1-226558193-C-G c.2096G>C p.G699A Missense 15/23 - 1
1-226558193-C-T c.2096G>A p.G699E Missense 15/23 - 1
1-226558194-C-A c.2095G>T p.G699W Missense 15/23 - 1
1-226558194-C-G c.2095G>C p.G699R Missense 15/23 - 1
1-226558194-C-T c.2095G>A p.G699R Missense 15/23 - 2
1-226558200-G-A c.2089C>T p.P697S Missense 15/23 - 1
1-226558201-C-A c.2088G>T p.M696I Missense 15/23 - 1
1-226558201-C-G c.2088G>C p.M696I Missense 15/23 - 1
1-226558201-C-T c.2088G>A p.M696I Missense 15/23 - 2
1-226558215-C-A c.2074G>T p.D692Y Missense 15/23 - 1
1-226558215-C-T c.2074G>A p.D692N Missense 15/23 - 3
1-226558216-G-A c.2073C>T p.I691= Synonymous 15/23 - 3
1-226558216-G-T c.2073C>A p.I691= Synonymous 15/23 - 1
1-226558271-G-A c.2071-53C>T - IntronicSNV - 14/22 2
1-226558496-C-T c.2071-278G>A - IntronicSNV - 14/22 1
1-226560976-T-G c.2070+951A>C - IntronicSNV - 14/22 1
1-226561064-C-A c.2070+863G>T - IntronicSNV - 14/22 3
1-226561064-C-T c.2070+863G>A - IntronicSNV - 14/22 3
1-226561065-A-G c.2070+862T>C - IntronicSNV - 14/22 2
1-226561188-G-A c.2070+739C>T - IntronicSNV - 14/22 2
1-226561225-C-G c.2070+702G>C - IntronicSNV - 14/22 2
1-226561225-C-T c.2070+702G>A - IntronicSNV - 14/22 2
1-226561403-A-T c.2070+524T>A - IntronicSNV - 14/22 6
1-226561548-A-G c.2070+379T>C - IntronicSNV - 14/22 3
1-226561761-G-C c.2070+166C>G - IntronicSNV - 14/22 4
1-226561761-G-T c.2070+166C>A - IntronicSNV - 14/22 3
1-226561874-C-T c.2070+53G>A - IntronicSNV - 14/22 1
1-226561929-C-G c.2068G>C p.E690Q Missense 14/23 - 1
1-226561930-A-G c.2067T>C p.Y689= Synonymous 14/23 - 3
1-226561939-CA-AT c.2057_2058delinsAT p.M686N Missense 14/23 - 1
1-226561941-T-C c.2056A>G p.M686V Missense 14/23 - 1
1-226561943-G-C c.2054C>G p.A685G Missense 14/23 - 1
1-226561944-C-T c.2053G>A p.A685T Missense 14/23 - 2
1-226561945-T-C c.2052A>G p.K684= Synonymous 14/23 - 1
1-226561944-CTTTCTTCATACTT-C c.2040_2052del p.S681Pfs*17 Frameshift 14/23 - 1
1-226561946-T-G c.2051A>C p.K684T Missense 14/23 - 1
1-226561951-C-T c.2046G>A p.M682I Missense 14/23 - 1
1-226561955-C-A c.2042G>T p.S681I Missense 14/23 - 1
1-226561959-C-CA c.2037_2038insT p.E680* Nonsense 14/23 - 1
1-226561959-C-G c.2038G>C p.E680Q Missense 14/23 - 2
1-226561964-T-C c.2033A>G p.D678G Missense 14/23 - 1
1-226561965-C-G c.2032G>C p.D678H Missense 14/23 - 8
1-226561965-C-T c.2032G>A p.D678N Missense 14/23 - 1
1-226561975-C-A c.2022G>T p.K674N Missense 14/23 - 1
1-226561975-C-G c.2022G>C p.K674N Missense 14/23 - 1
1-226561978-G-A c.2019C>T p.I673= Synonymous 14/23 - 1
1-226561986-C-T c.2011G>A p.D671N Missense 14/23 - 1
1-226561987-C-T c.2010G>A p.Q670= Synonymous 14/23 - 2
1-226561990-AAC-CAT c.2005_2007delinsATG p.V669M Missense 14/23 - 1
1-226561996-C-G c.2001G>C p.K667N Missense 14/23 - 2
1-226561996-C-T c.2001G>A p.K667= Synonymous 14/23 - 1
1-226561997-T-C c.2000A>G p.K667R Missense 14/23 - 1
1-226561998-T-C c.1999A>G p.K667E Missense 14/23 - 1
1-226561999-GG-TT c.1997_1998delinsAA p.P666Q Missense 14/23 - 1
1-226562000-G-A c.1997C>T p.P666L Missense 14/23 - 2
1-226562003-A-C c.1994T>G p.L665R Missense 14/23 - 1
1-226562003-A-G c.1994T>C p.L665P Missense 14/23 - 1
1-226562003-AG-TA c.1993_1994delinsTA p.L665Y Missense 14/23 - 1
1-226562006-T-A c.1991A>T p.K664M Missense 14/23 - 1
1-226562006-T-C c.1991A>G p.K664R Missense 14/23 - 2
1-226562005-CT-C c.1991del p.K664Sfs*12 Frameshift 14/23 - 1
1-226562009-GA-AC c.1987_1988delinsGT p.S663V Missense 14/23 - 1
1-226562010-A-G c.1987T>C p.S663P Missense 14/23 - 1
1-226562011-C-T c.1986G>A p.K662= Synonymous 14/23 - 1
1-226562012-T-C c.1985A>G p.K662R Missense 14/23 - 1
1-226562015-G-A c.1982C>T p.T661I Missense 14/23 - 1
1-226562017-GC-CT c.1979_1980delinsAG p.G660E Missense 14/23 - 1
1-226562021-G-A c.1976C>T p.P659L Missense 14/23 - 2
1-226562022-G-A c.1975C>T p.P659S Missense 14/23 - 6
1-226562026-T-A c.1971A>T p.V657= Synonymous 14/23 - 1
1-226562026-TAC-AAA c.1969_1971delinsTTT p.V657F Missense 14/23 - 1
1-226562026-T-C c.1971A>G p.V657= Synonymous 14/23 - 1
1-226562026-T-G c.1971A>C p.V657= Synonymous 14/23 - 1
1-226562028-C-T c.1969G>A p.V657I Missense 14/23 - 1
1-226562029-T-A c.1968A>T p.T656= Synonymous 14/23 - 1
1-226562029-T-C c.1968A>G p.T656= Synonymous 14/23 - 1
1-226562029-T-G c.1968A>C p.T656= Synonymous 14/23 - 1
1-226562029-TGT-ACA c.1966_1968inv p.T656C Missense 14/23 - 1
1-226562030-G-A c.1967C>T p.T656I Missense 14/23 - 3
1-226562030-GT-CC c.1966_1967delinsGG p.T656G Missense 14/23 - 1
1-226562031-T-A c.1966A>T p.T656S Missense 14/23 - 2
1-226562031-T-C c.1966A>G p.T656A Missense 14/23 - 1
1-226562032-C-A c.1965G>T p.L655= Synonymous 14/23 - 1
1-226562032-C-G c.1965G>C p.L655= Synonymous 14/23 - 1
1-226562032-C-T c.1965G>A p.L655= Synonymous 14/23 - 1
1-226562034-G-A c.1963C>T p.L655= Synonymous 14/23 - 1
1-226562035-C-T c.1962G>A p.K654= Synonymous 14/23 - 1
1-226562035-CT-C c.1961del p.K654Sfs*2 Frameshift 14/23 - 1
1-226562038-C-T c.1959G>A p.K653= Synonymous 14/23 - 4
1-226562039-T-A c.1958A>T p.K653M Missense 14/23 - 1
1-226562042-A-C c.1955T>G p.V652G Missense 14/23 - 2
1-226562046-C-A c.1951G>T p.A651S Missense 14/23 - 1
1-226562049-C-G c.1948G>C p.E650Q Missense 14/23 - 2
1-226562050-T-G c.1947A>C p.E649D Missense 14/23 - 4
1-226562051-T-C c.1946A>G p.E649G Missense 14/23 - 2
1-226562052-C-T c.1945G>A p.E649K Missense 14/23 - 1
1-226562055-C-A c.1942G>T p.D648Y Missense 14/23 - 1
1-226562055-C-T c.1942G>A p.D648N Missense 14/23 - 2
1-226562112-C-G c.1942-57G>C - IntronicSNV - 13/22 1
1-226562112-C-T c.1942-57G>A - IntronicSNV - 13/22 1
1-226562621-A-C c.1942-566T>G - IntronicSNV - 13/22 16
1-226562621-A-T c.1942-566T>A - IntronicSNV - 13/22 16
1-226563859-C-T c.1941+950G>A - IntronicSNV - 13/22 6
1-226563882-T-C c.1941+927A>G - IntronicSNV - 13/22 1
1-226564691-T-C c.1941+118A>G - IntronicSNV - 13/22 45
1-226564809-C-T c.1941G>A p.Q647= Synonymous 13/23 - 1
1-226564810-T-A c.1940A>T p.Q647L Missense 13/23 - 1
1-226564812-G-A c.1938C>T p.G646= Synonymous 13/23 - 1
1-226564812-G-C c.1938C>G p.G646= Synonymous 13/23 - 1
1-226564812-G-T c.1938C>A p.G646= Synonymous 13/23 - 1
1-226564814-C-A c.1936G>T p.G646C Missense 13/23 - 1
1-226564814-C-T c.1936G>A p.G646S Missense 13/23 - 1
1-226564816-T-A c.1934A>T p.Y645F Missense 13/23 - 1
1-226564816-T-C c.1934A>G p.Y645C Missense 13/23 - 2
1-226564820-C-T c.1930G>A p.D644N Missense 13/23 - 2
1-226564822-A-G c.1928T>C p.I643T Missense 13/23 - 2
1-226564827-C-A c.1923G>T p.L641= Synonymous 13/23 - 1
1-226564829-GGGGGTAGAACT-AC c.1910_1921delinsGT p.K637Sfs*13 Frameshift 13/23 - 1
1-226564830-G-A c.1920C>T p.P640= Synonymous 13/23 - 1
1-226564830-G-C c.1920C>G p.P640= Synonymous 13/23 - 1
1-226564830-G-T c.1920C>A p.P640= Synonymous 13/23 - 1
1-226564832-G-A c.1918C>T p.P640S Missense 13/23 - 1
1-226564828-AG-A c.1921del p.L641Wfs*12 Frameshift 13/23 - 2
1-226564834-T-A c.1916A>T p.Y639F Missense 13/23 - 1
1-226564834-T-C c.1916A>G p.Y639C Missense 13/23 - 2
1-226564836-G-A c.1914C>T p.F638= Synonymous 13/23 - 1
1-226564840-T-G c.1910A>C p.K637T Missense 13/23 - 1
1-226564840-TT-AG c.1909_1910delinsCT p.K637L Missense 13/23 - 1
1-226564841-T-G c.1909A>C p.K637Q Missense 13/23 - 1
1-226564845-G-A c.1905C>T p.P635= Synonymous 13/23 - 1
1-226564845-G-C c.1905C>G p.P635= Synonymous 13/23 - 2
1-226564845-GGG-TTAGCTAAA c.1903_1905delinsTTTAGCTAA p.P635delinsFS* MultiAAMissense 13/23 - 1
1-226564845-G-T c.1905C>A p.P635= Synonymous 13/23 - 1
1-226564847-G-A c.1903C>T p.P635S Missense 13/23 - 3
1-226564849-TA-GC c.1900_1901delinsGC p.Y634A Missense 13/23 - 1
1-226564849-T-C c.1901A>G p.Y634C Missense 13/23 - 2
1-226564851-C-T c.1899G>A p.K633= Synonymous 13/23 - 1
1-226564852-T-C c.1898A>G p.K633R Missense 13/23 - 2
1-226564852-TT-GC c.1897_1898delinsGC p.K633A Missense 13/23 - 1
1-226564853-T-A c.1897A>T p.K633* Nonsense 13/23 - 1
1-226564854-C-A c.1896G>T p.T632= Synonymous 13/23 - 3
1-226564854-C-G c.1896G>C p.T632= Synonymous 13/23 - 3
1-226564854-C-T c.1896G>A p.T632= Synonymous 13/23 - 4
1-226564855-G-A c.1895C>T p.T632M Missense 13/23 - 5
1-226564857-G-A c.1893C>T p.F631= Synonymous 13/23 - 4
1-226564858-AA-GC c.1891_1892delinsGC p.F631A Missense 13/23 - 1
1-226564862-T-G c.1888A>C p.N630H Missense 13/23 - 1
1-226564863-T-A c.1887A>T p.K629N Missense 13/23 - 1
1-226564863-T-G c.1887A>C p.K629N Missense 13/23 - 1
1-226564864-T-C c.1886A>G p.K629R Missense 13/23 - 1
1-226564865-T-C c.1885A>G p.K629E Missense 13/23 - 1
1-226564866-G-A c.1884C>T p.S628= Synonymous 13/23 - 1
1-226564869-G-A c.1881C>T p.H627= Synonymous 13/23 - 1
1-226564876-G-A c.1874C>T p.A625V Missense 13/23 - 1
1-226564876-G-C c.1874C>G p.A625G Missense 13/23 - 1
1-226564876-G-T c.1874C>A p.A625D Missense 13/23 - 1
1-226564877-C-A c.1873G>T p.A625S Missense 13/23 - 1
1-226564877-C-G c.1873G>C p.A625P Missense 13/23 - 1
1-226564877-C-T c.1873G>A p.A625T Missense 13/23 - 19
1-226564878-G-A c.1872C>T p.N624= Synonymous 13/23 - 4
1-226564882-C-G c.1868G>C p.G623A Missense 13/23 - 1
1-226564883-C-A c.1867G>T p.G623W Missense 13/23 - 2
1-226564883-C-G c.1867G>C p.G623R Missense 13/23 - 2
1-226564883-C-T c.1867G>A p.G623R Missense 13/23 - 3
1-226564884-GG-CA c.1865_1866delinsTG p.T622M Missense 13/23 - 1
1-226564885-G-A c.1865C>T p.T622I Missense 13/23 - 2
1-226564886-T-C c.1864A>G p.T622A Missense 13/23 - 1
1-226564887-T-C c.1863A>G p.K621= Synonymous 13/23 - 1
1-226564888-T-C c.1862A>G p.K621R Missense 13/23 - 2
1-226564888-TT-GC c.1861_1862delinsGC p.K621A Missense 13/23 - 1
1-226564885-G-GT c.1864dup p.T622Nfs*23 Frameshift 13/23 - 2
1-226564895-C-T c.1855G>A p.E619K Missense 13/23 - 4
1-226564903-T-C c.1847A>G p.K616R Missense 13/23 - 1
1-226564905-C-A c.1845G>T p.M615I Missense 13/23 - 2
1-226564905-C-G c.1845G>C p.M615I Missense 13/23 - 2
1-226564905-C-T c.1845G>A p.M615I Missense 13/23 - 4
1-226564906-A-G c.1844T>C p.M615T Missense 13/23 - 1
1-226564907-T-A c.1843A>T p.M615L Missense 13/23 - 1
1-226564907-T-C c.1843A>G p.M615V Missense 13/23 - 3
1-226564908-G-A c.1842C>T p.F614= Synonymous 13/23 - 2
1-226564908-G-C c.1842C>G p.F614L Missense 13/23 - 1
1-226564908-G-T c.1842C>A p.F614L Missense 13/23 - 1
1-226564910-A-G c.1840T>C p.F614L Missense 13/23 - 1
1-226564910-A-T c.1840T>A p.F614I Missense 13/23 - 1
1-226564911-GTG-CTC c.1837_1839delinsGAG p.H613E Missense 13/23 - 1
1-226564912-T-C c.1838A>G p.H613R Missense 13/23 - 5
1-226564913-G-T c.1837C>A p.H613N Missense 13/23 - 1
1-226564916-C-G c.1834G>C p.E612Q Missense 13/23 - 1
1-226564918-A-G c.1832T>C p.I611T Missense 13/23 - 1
1-226564919-T-C c.1831A>G p.I611V Missense 13/23 - 1
1-226564920-G-A c.1830C>T p.A610= Synonymous 13/23 - 1
1-226564921-G-A c.1829C>T p.A610V Missense 13/23 - 2
1-226564925-C-T c.1825G>A p.D609N Missense 13/23 - 2
1-226564930-TT-GC c.1819_1820delinsGC p.K607A Missense 13/23 - 1
1-226564931-T-C c.1819A>G p.K607E Missense 13/23 - 1
1-226564933-G-A c.1817C>T p.S606F Missense 13/23 - 2
1-226564934-A-C c.1816T>G p.S606A Missense 13/23 - 1
1-226564936-G-A c.1814C>T p.P605L Missense 13/23 - 4
1-226564937-G-A c.1813C>T p.P605S Missense 13/23 - 4
1-226564938-C-T c.1812G>A p.M604I Missense 13/23 - 1
1-226564941-C-A c.1809G>T p.Q603H Missense 13/23 - 1
1-226564941-C-G c.1809G>C p.Q603H Missense 13/23 - 2
1-226564944-T-C c.1806A>G p.E602= Synonymous 13/23 - 1
1-226564946-C-A c.1804G>T p.E602* Nonsense 13/23 - 4
1-226564946-C-G c.1804G>C p.E602Q Missense 13/23 - 4
1-226564948-A-G c.1802T>C p.L601P Missense 13/23 - 1
1-226564948-A-T c.1802T>A p.L601Q Missense 13/23 - 2
1-226564951-T-C c.1799A>G p.K600R Missense 13/23 - 1
1-226564951-TT-AG c.1798_1799delinsCT p.K600L Missense 13/23 - 1
1-226564949-G-GT c.1800dup p.L601Tfs*12 Frameshift 13/23 - 1
1-226564952-T-C c.1798A>G p.K600E Missense 13/23 - 1
1-226564952-T-G c.1798A>C p.K600Q Missense 13/23 - 1
1-226564960-C-A c.1790G>T p.G597V Missense 13/23 - 1
1-226564961-C-A c.1789G>T p.G597C Missense 13/23 - 1
1-226564961-C-T c.1789G>A p.G597S Missense 13/23 - 5
1-226564962-G-A c.1788C>T p.I596= Synonymous 13/23 - 1
1-226564962-G-T c.1788C>A p.I596= Synonymous 13/23 - 1
1-226564966-A-T c.1784T>A p.V595E Missense 13/23 - 3
1-226564967-C-A c.1783G>T p.V595L Missense 13/23 - 1
1-226564967-C-G c.1783G>C p.V595L Missense 13/23 - 1
1-226564967-C-T c.1783G>A p.V595M Missense 13/23 - 1
1-226564968-C-A c.1782G>T p.T594= Synonymous 13/23 - 2
1-226564968-C-G c.1782G>C p.T594= Synonymous 13/23 - 1
1-226564968-C-T c.1782G>A p.T594= Synonymous 13/23 - 1
1-226564969-G-A c.1781C>T p.T594M Missense 13/23 - 6
1-226564970-T-C c.1780A>G p.T594A Missense 13/23 - 1
1-226564976-C-A c.1774G>T p.V592L Missense 13/23 - 1
1-226564976-C-G c.1774G>C p.V592L Missense 13/23 - 1
1-226564977-ACG-CTT c.1771_1773delinsAAG p.R591K Missense 13/23 - 1
1-226564977-ACG-TCA c.1771_1773delinsTGA p.R591* Nonsense 13/23 - 1
1-226564978-C-A c.1772G>T p.R591L Missense 13/23 - 2
1-226564978-CG-GC c.1771_1772delinsGC p.R591A Missense 13/23 - 4
1-226564978-C-T c.1772G>A p.R591H Missense 13/23 - 6
1-226564979-G-A c.1771C>T p.R591C Missense 13/23 - 23
1-226564979-G-T c.1771C>A p.R591S Missense 13/23 - 1
1-226564981-C-T c.1769G>A p.G590D Missense 13/23 - 1
1-226564983-C-A c.1767G>T p.W589C Missense 13/23 - 1
1-226564984-CA-GC c.1765_1766delinsGC p.W589A Missense 13/23 - 6
1-226564986-G-A c.1764C>T p.S588= Synonymous 13/23 - 1
1-226564987-GA-TT c.1762_1763delinsAA p.S588N Missense 13/23 - 1
1-226564990-CT-TG c.1759_1760delinsCA p.R587Q Missense 13/23 - 1
1-226564992-G-A c.1758C>T p.F586= Synonymous 13/23 - 1
1-226564992-G-C c.1758C>G p.F586L Missense 13/23 - 3
1-226564992-G-T c.1758C>A p.F586L Missense 13/23 - 2
1-226564994-A-G c.1756T>C p.F586L Missense 13/23 - 2
1-226564999-C-G c.1751G>C p.W584S Missense 13/23 - 2
1-226565002-TA-GC c.1747_1748delinsGC p.Y583A Missense 13/23 - 1
1-226565003-A-G c.1747T>C p.Y583H Missense 13/23 - 1
1-226565049-T-C c.1746-45A>G - IntronicSNV - 12/22 2
1-226565049-T-G c.1746-45A>C - IntronicSNV - 12/22 2
1-226565062-G-T c.1746-58C>A - IntronicSNV - 12/22 1
1-226566401-T-G c.1745+442A>C - IntronicSNV - 12/22 2
1-226566726-A-C c.1745+117T>G - IntronicSNV - 12/22 7
1-226566792-G-A c.1745+51C>T - IntronicSNV - 12/22 1
1-226566843-C-A c.1745G>T p.R582M Missense 12/23 - 2
1-226566843-C-T c.1745G>A p.R582K Missense 12/23 - 1
1-226566843-CT-TG c.1744_1745delinsCA p.R582Q Missense 12/23 - 2
1-226566843-C-CT c.1744dup p.R582Kfs*17 SpliceDonorInsertion 12/23 - 1
1-226566844-T-A c.1744A>T p.R582W Missense 12/23 - 1
1-226566844-T-TA c.1743_1744insT p.R582* SpliceDonorInsertion 12/23 - 1
1-226566844-T-TC c.1743_1744insG p.R582Efs*17 SpliceDonorInsertion 12/23 - 1
1-226566844-T-TG c.1743dup p.R582Qfs*17 SpliceDonorInsertion 12/23 - 1
1-226566846-T-C c.1742A>G p.N581S Missense 12/23 - 1
1-226566852-T-C c.1736A>G p.K579R Missense 12/23 - 2
1-226566853-T-C c.1735A>G p.K579E Missense 12/23 - 1
1-226566856-C-T c.1732G>A p.D578N Missense 12/23 - 1
1-226566857-G-A c.1731C>T p.D577= Synonymous 12/23 - 1
1-226566858-T-G c.1730A>C p.D577A Missense 12/23 - 1
1-226566859-C-T c.1729G>A p.D577N Missense 12/23 - 1
1-226566862-C-T c.1726G>A p.E576K Missense 12/23 - 1
1-226566867-A-C c.1721T>G p.L574R Missense 12/23 - 1
1-226566867-A-G c.1721T>C p.L574P Missense 12/23 - 1
1-226566867-A-T c.1721T>A p.L574H Missense 12/23 - 1
1-226566868-G-A c.1720C>T p.L574F Missense 12/23 - 1
1-226566877-T-G c.1711A>C p.K571Q Missense 12/23 - 1
1-226566879-T-A c.1709A>T p.Y570F Missense 12/23 - 1
1-226566880-A-G c.1708T>C p.Y570H Missense 12/23 - 1
1-226566881-G-A c.1707C>T p.Y569= Synonymous 12/23 - 1
1-226566885-G-A c.1703C>T p.S568F Missense 12/23 - 5
1-226566885-G-C c.1703C>G p.S568C Missense 12/23 - 5
1-226566888-T-A c.1700A>T p.N567I Missense 12/23 - 3
1-226566892-T-C c.1696A>G p.T566A Missense 12/23 - 1
1-226566893-TCC-GCT c.1693_1695delinsAGC p.G565S Missense 12/23 - 1
1-226566895-C-G c.1693G>C p.G565R Missense 12/23 - 1
1-226566895-C-T c.1693G>A p.G565R Missense 12/23 - 2
1-226566895-CTT-C c.1691_1692del p.K564Rfs*34 Frameshift 12/23 - 1
1-226566898-T-C c.1690A>G p.K564E Missense 12/23 - 3
1-226566901-C-T c.1687G>A p.V563I Missense 12/23 - 3
1-226566904-T-C c.1684A>G p.I562V Missense 12/23 - 2
1-226566906-T-G c.1682A>C p.D561A Missense 12/23 - 1
1-226566909-A-C c.1679T>G p.V560G Missense 12/23 - 3
1-226566910-C-A c.1678G>T p.V560L Missense 12/23 - 2
1-226566910-C-G c.1678G>C p.V560L Missense 12/23 - 2
1-226566910-C-T c.1678G>A p.V560M Missense 12/23 - 5
1-226566913-G-T c.1675C>A p.L559M Missense 12/23 - 3
1-226566918-A-G c.1670T>C p.L557P Missense 12/23 - 1
1-226566920-G-A c.1668C>T p.T556= Synonymous 12/23 - 2
1-226566924-G-C c.1664C>G p.A555G Missense 12/23 - 1
1-226566928-T-C c.1660A>G p.S554G Missense 12/23 - 1
1-226566928-T-G c.1660A>C p.S554R Missense 12/23 - 1
1-226566929-G-T c.1659C>A p.F553L Missense 12/23 - 6
1-226566929-G-C c.1659C>G p.F553L Missense 12/23 - 3
1-226566931-A-G c.1657T>C p.F553L Missense 12/23 - 3
1-226566936-T-C c.1652A>G p.K551R Missense 12/23 - 1
1-226566939-C-G c.1649G>C p.G550A Missense 12/23 - 1
1-226566940-C-G c.1648G>C p.G550R Missense 12/23 - 2
1-226566940-C-T c.1648G>A p.G550R Missense 12/23 - 2
1-226566941-A-C c.1647T>G p.G549= Synonymous 12/23 - 1
1-226566941-A-G c.1647T>C p.G549= Synonymous 12/23 - 1
1-226566941-A-T c.1647T>A p.G549= Synonymous 12/23 - 1
1-226566942-C-G c.1646G>C p.G549A Missense 12/23 - 2
1-226566944-T-C c.1644A>G p.K548= Synonymous 12/23 - 2
1-226566945-T-C c.1643A>G p.K548R Missense 12/23 - 1
1-226566948-T-C c.1640A>G p.E547G Missense 12/23 - 2
1-226566948-T-G c.1640A>C p.E547A Missense 12/23 - 1
1-226566953-G-A c.1635C>T p.V545= Synonymous 12/23 - 1
1-226566955-C-T c.1633G>A p.V545I Missense 12/23 - 1
1-226566956-A-C c.1632T>G p.H544Q Missense 12/23 - 1
1-226566956-A-T c.1632T>A p.H544Q Missense 12/23 - 1
1-226566956-CA-C c.1632del p.H544Qfs*52 Frameshift 12/23 - 1
1-226566957-T-A c.1631A>T p.H544L Missense 12/23 - 1
1-226566959-C-A c.1629G>T p.A543= Synonymous 12/23 - 2
1-226566959-C-G c.1629G>C p.A543= Synonymous 12/23 - 2
1-226566959-C-T c.1629G>A p.A543= Synonymous 12/23 - 2
1-226566960-G-T c.1628C>A p.A543E Missense 12/23 - 1
1-226566961-C-T c.1627G>A p.A543T Missense 12/23 - 1
1-226566963-G-A c.1625C>T p.S542F Missense 12/23 - 1
1-226566961-CAG-C c.1625_1626del p.S542Cfs*22 Frameshift 12/23 - 1
1-226566965-G-A c.1623C>T p.H541= Synonymous 12/23 - 4
1-226566966-T-C c.1622A>G p.H541R Missense 12/23 - 1
1-226566968-T-A c.1620A>T p.E540D Missense 12/23 - 1
1-226566968-T-G c.1620A>C p.E540D Missense 12/23 - 1
1-226566969-T-C c.1619A>G p.E540G Missense 12/23 - 1
1-226566973-G-C c.1615C>G p.L539V Missense 12/23 - 2
1-226566974-T-A c.1614A>T p.G538= Synonymous 12/23 - 2
1-226566974-T-C c.1614A>G p.G538= Synonymous 12/23 - 1
1-226566974-T-G c.1614A>C p.G538= Synonymous 12/23 - 1
1-226566975-C-G c.1613G>C p.G538A Missense 12/23 - 1
1-226567008-C-G c.1613-33G>C - IntronicSNV - 11/22 8
1-226567027-A-G c.1613-52T>C - IntronicSNV - 11/22 1
1-226567172-A-C c.1612+102T>G - IntronicSNV - 11/22 2
1-226567241-C-T c.1612+33G>A - IntronicSNV - 11/22 1
1-226567276-GA-TT c.1609_1610delinsAA p.S537N Missense 11/23 - 1
1-226567282-GG-TC c.1603_1604delinsGA p.P535D Missense 11/23 - 1
1-226567282-G-T c.1604C>A p.P535H Missense 11/23 - 4
1-226567283-G-C c.1603C>G p.P535A Missense 11/23 - 1
1-226567285-T-G c.1601A>C p.D534A Missense 11/23 - 1
1-226567294-G-A c.1592C>T p.A531V Missense 11/23 - 1
1-226567297-C-A c.1589G>T p.G530V Missense 11/23 - 1
1-226567298-C-A c.1588G>T p.G530* Nonsense 11/23 - 2
1-226567298-C-G c.1588G>C p.G530R Missense 11/23 - 1
1-226567298-C-T c.1588G>A p.G530R Missense 11/23 - 2
1-226567299-TC-T c.1586del p.G529Efs*67 Frameshift 11/23 - 1
1-226567301-C-G c.1585G>C p.G529R Missense 11/23 - 1
1-226567301-C-T c.1585G>A p.G529R Missense 11/23 - 1
1-226567303-T-C c.1583A>G p.K528R Missense 11/23 - 1
1-226567303-TT-AG c.1582_1583delinsCT p.K528L Missense 11/23 - 1
1-226567303-TT-GC c.1582_1583delinsGC p.K528A Missense 11/23 - 1
1-226567304-T-G c.1582A>C p.K528Q Missense 11/23 - 1
1-226567312-AA-GG c.1573_1574delinsCC p.L525P Missense 11/23 - 1
1-226567311-T-C c.1575A>G p.L525= Synonymous 11/23 - 2
1-226567313-A-G c.1573T>C p.L525= Synonymous 11/23 - 2
1-226567315-T-C c.1571A>G p.K524R Missense 11/23 - 5
1-226567315-TT-GC c.1570_1571delinsGC p.K524A Missense 11/23 - 1
1-226567317-C-T c.1569G>A p.M523I Missense 11/23 - 1
1-226567318-A-C c.1568T>G p.M523R Missense 11/23 - 2
1-226567320-TCT-CCA c.1564_1566delinsTGG p.R522W Missense 11/23 - 2
1-226567321-C-T c.1565G>A p.R522K Missense 11/23 - 2
1-226567321-CT-GC c.1564_1565delinsGC p.R522A Missense 11/23 - 1
1-226567322-CT-C c.1564del p.R522Efs*2 Frameshift 11/23 - 1
1-226567323-C-A c.1563G>T p.K521N Missense 11/23 - 1
1-226567323-C-G c.1563G>C p.K521N Missense 11/23 - 1
1-226567324-T-C c.1562A>G p.K521R Missense 11/23 - 1
1-226567324-TT-GC c.1561_1562delinsGC p.K521A Missense 11/23 - 4
1-226567326-T-A c.1560A>T p.E520D Missense 11/23 - 1
1-226567326-T-G c.1560A>C p.E520D Missense 11/23 - 1
1-226567323-CT-C c.1562del p.K521Rfs*3 Frameshift 11/23 - 1
1-226567327-T-C c.1559A>G p.E520G Missense 11/23 - 1
1-226567328-C-A c.1558G>T p.E520* Nonsense 11/23 - 1
1-226567329-A-C c.1557T>G p.S519= Synonymous 11/23 - 1
1-226567329-A-G c.1557T>C p.S519= Synonymous 11/23 - 1
1-226567329-A-T c.1557T>A p.S519= Synonymous 11/23 - 1
1-226567330-G-A c.1556C>T p.S519F Missense 11/23 - 1
1-226567331-A-C c.1555T>G p.S519A Missense 11/23 - 5
1-226567332-T-C c.1554A>G p.K518= Synonymous 11/23 - 1
1-226567333-T-C c.1553A>G p.K518R Missense 11/23 - 1
1-226567335-G-C c.1551C>G p.N517K Missense 11/23 - 1
1-226567335-G-T c.1551C>A p.N517K Missense 11/23 - 1
1-226567336-T-C c.1550A>G p.N517S Missense 11/23 - 3
1-226567342-C-G c.1544G>C p.G515A Missense 11/23 - 1
1-226567554-C-T c.1543+69G>A - IntronicSNV - 10/22 3
1-226567563-C-G c.1543+60G>C - IntronicSNV - 10/22 7
1-226567563-C-T c.1543+60G>A - IntronicSNV - 10/22 5
1-226567623-C-A c.1543G>T p.G515C Missense 10/23 - 1
1-226567623-C-T c.1543G>A p.G515S Missense 10/23 - 1
1-226567625-T-C c.1541A>G p.E514G Missense 10/23 - 2
1-226567630-C-A c.1536G>T p.K512N Missense 10/23 - 1
1-226567631-T-C c.1535A>G p.K512R Missense 10/23 - 2
1-226567632-T-C c.1534A>G p.K512E Missense 10/23 - 1
1-226567633-GAC-TTA c.1531_1533delinsTAA p.V511* Nonsense 10/23 - 1
1-226567634-A-G c.1532T>C p.V511A Missense 10/23 - 4
1-226567635-C-G c.1531G>C p.V511L Missense 10/23 - 1
1-226567635-C-T c.1531G>A p.V511I Missense 10/23 - 4
1-226567639-G-A c.1527C>T p.G509= Synonymous 10/23 - 1
1-226567639-G-C c.1527C>G p.G509= Synonymous 10/23 - 1
1-226567639-G-T c.1527C>A p.G509= Synonymous 10/23 - 1
1-226567643-T-C c.1523A>G p.K508R Missense 10/23 - 1
1-226567643-TT-AG c.1522_1523delinsCT p.K508L Missense 10/23 - 1
1-226567643-TT-GC c.1522_1523delinsGC p.K508A Missense 10/23 - 2
1-226567644-T-C c.1522A>G p.K508E Missense 10/23 - 2
1-226567646-CT-AA c.1519_1520delinsTT p.S507F Missense 10/23 - 1
1-226567646-CT-GC c.1519_1520delinsGC p.S507A Missense 10/23 - 2
1-226567647-T-C c.1519A>G p.S507G Missense 10/23 - 1
1-226567649-T-C c.1517A>G p.K506R Missense 10/23 - 3
1-226567649-TT-GC c.1516_1517delinsGC p.K506A Missense 10/23 - 1
1-226567651-T-A c.1515A>T p.K505N Missense 10/23 - 1
1-226567651-T-G c.1515A>C p.K505N Missense 10/23 - 1
1-226567652-T-C c.1514A>G p.K505R Missense 10/23 - 2
1-226567652-TT-GC c.1513_1514delinsGC p.K505A Missense 10/23 - 2
1-226567646-CT-C c.1519del p.S507Afs*17 Frameshift 10/23 - 5
1-226567655-G-A c.1511C>T p.S504F Missense 10/23 - 5
1-226567658-A-C c.1508T>G p.L503R Missense 10/23 - 4
1-226567661-G-A c.1505C>T p.A502V Missense 10/23 - 9
1-226567661-G-C c.1505C>G p.A502G Missense 10/23 - 4
1-226567665-C-T c.1501G>A p.A501T Missense 10/23 - 2
1-226567666-C-A c.1500G>T p.G500= Synonymous 10/23 - 4
1-226567666-C-G c.1500G>C p.G500= Synonymous 10/23 - 4
1-226567666-C-T c.1500G>A p.G500= Synonymous 10/23 - 4
1-226567668-C-A c.1498G>T p.G500W Missense 10/23 - 1
1-226567669-TGA-GTC c.1495_1497delinsGAC p.S499D Missense 10/23 - 1
1-226567671-A-C c.1495T>G p.S499A Missense 10/23 - 4
1-226567671-A-G c.1495T>C p.S499P Missense 10/23 - 2
1-226567672-C-T c.1494G>A p.K498= Synonymous 10/23 - 2
1-226567673-T-C c.1493A>G p.K498R Missense 10/23 - 2
1-226567673-T-G c.1493A>C p.K498T Missense 10/23 - 1
1-226567673-TT-GC c.1492_1493delinsGC p.K498A Missense 10/23 - 4
1-226567675-C-A c.1491G>T p.G497= Synonymous 10/23 - 1
1-226567675-C-G c.1491G>C p.G497= Synonymous 10/23 - 1
1-226567675-C-T c.1491G>A p.G497= Synonymous 10/23 - 1
1-226567678-TCT-ATG c.1486_1488delinsCAT p.R496H Missense 10/23 - 1
1-226567678-TCT-CCA c.1486_1488delinsTGG p.R496W Missense 10/23 - 1
1-226567679-C-A c.1487G>T p.R496I Missense 10/23 - 1
1-226567682-G-A c.1484C>T p.P495L Missense 10/23 - 1
1-226567686-C-T c.1480G>A p.A494T Missense 10/23 - 1
1-226567687-C-A c.1479G>T p.V493= Synonymous 10/23 - 2
1-226567687-CAC-AAA c.1477_1479delinsTTT p.V493F Missense 10/23 - 1
1-226567687-C-G c.1479G>C p.V493= Synonymous 10/23 - 2
1-226567687-C-T c.1479G>A p.V493= Synonymous 10/23 - 3
1-226567690-A-C c.1476T>G p.V492= Synonymous 10/23 - 2
1-226567690-A-G c.1476T>C p.V492= Synonymous 10/23 - 3
1-226567690-A-T c.1476T>A p.V492= Synonymous 10/23 - 2
1-226567691-AC-TG c.1474_1475delinsCA p.V492H Missense 10/23 - 1
1-226567691-A-G c.1475T>C p.V492A Missense 10/23 - 2
1-226567692-C-A c.1474G>T p.V492F Missense 10/23 - 2
1-226567694-T-G c.1472A>C p.E491A Missense 10/23 - 2
1-226567695-C-T c.1471G>A p.E491K Missense 10/23 - 2
1-226567697-A-AG c.1468_1469insC p.V490Afs*2 Frameshift 10/23 - 1
1-226567698-C-T c.1468G>A p.V490I Missense 10/23 - 2
1-226567703-T-A c.1463A>T p.E488V Missense 10/23 - 2
1-226567703-T-G c.1463A>C p.E488A Missense 10/23 - 2
1-226567709-T-C c.1457A>G p.K486R Missense 10/23 - 2
1-226567713-C-A c.1453G>T p.V485L Missense 10/23 - 1
1-226567713-C-G c.1453G>C p.V485L Missense 10/23 - 1
1-226567713-C-T c.1453G>A p.V485M Missense 10/23 - 1
1-226567715-T-G c.1451A>C p.E484A Missense 10/23 - 2
1-226567716-C-G c.1450G>C p.E484Q Missense 10/23 - 1
1-226567716-C-T c.1450G>A p.E484K Missense 10/23 - 4
1-226567717-T-C c.1449A>G p.A483= Synonymous 10/23 - 1
1-226567718-G-A c.1448C>T p.A483V Missense 10/23 - 1
1-226567719-C-T c.1447G>A p.A483T Missense 10/23 - 1
1-226567720-C-A c.1446G>T p.G482= Synonymous 10/23 - 1
1-226567720-CCC-GCT c.1444_1446delinsAGC p.G482S Missense 10/23 - 3
1-226567721-C-T c.1445G>A p.G482E Missense 10/23 - 1
1-226567722-C-G c.1444G>C p.G482R Missense 10/23 - 3
1-226567722-C-T c.1444G>A p.G482R Missense 10/23 - 3
1-226567723-C-A c.1443G>T p.W481C Missense 10/23 - 4
1-226567723-C-G c.1443G>C p.W481C Missense 10/23 - 4
1-226567718-GC-G c.1447del p.A483Qfs*3 Frameshift 10/23 - 2
1-226567718-G-GC c.1447dup p.A483Gfs*9 Frameshift 10/23 - 2
1-226567724-C-G c.1442G>C p.W481S Missense 10/23 - 1
1-226567726-A-C c.1440T>G p.P480= Synonymous 10/23 - 1
1-226567726-A-G c.1440T>C p.P480= Synonymous 10/23 - 1
1-226567726-A-T c.1440T>A p.P480= Synonymous 10/23 - 1
1-226567727-G-C c.1439C>G p.P480R Missense 10/23 - 1
1-226567728-G-A c.1438C>T p.P480S Missense 10/23 - 6
1-226567729-G-A c.1437C>T p.S479= Synonymous 10/23 - 1
1-226567730-G-A c.1436C>T p.S479F Missense 10/23 - 1
1-226567730-G-C c.1436C>G p.S479C Missense 10/23 - 1
1-226567731-A-C c.1435T>G p.S479A Missense 10/23 - 1
1-226567737-T-C c.1429A>G p.I477V Missense 10/23 - 1
1-226567738-G-A c.1428C>T p.H476= Synonymous 10/23 - 1
1-226567741-C-A c.1425G>T p.A475= Synonymous 10/23 - 1
1-226567741-C-G c.1425G>C p.A475= Synonymous 10/23 - 1
1-226567741-C-T c.1425G>A p.A475= Synonymous 10/23 - 1
1-226567742-G-A c.1424C>T p.A475V Missense 10/23 - 2
1-226567742-G-C c.1424C>G p.A475G Missense 10/23 - 1
1-226567746-A-C c.1420T>G p.L474V Missense 10/23 - 1
1-226567747-G-A c.1419C>T p.F473= Synonymous 10/23 - 1
1-226567748-AA-GC c.1417_1418delinsGC p.F473A Missense 10/23 - 1
1-226567747-G-C c.1419C>G p.F473L Missense 10/23 - 2
1-226567747-G-T c.1419C>A p.F473L Missense 10/23 - 2
1-226567749-A-G c.1417T>C p.F473L Missense 10/23 - 2
1-226567754-T-G c.1412A>C p.E471A Missense 10/23 - 1
1-226567756-C-A c.1410G>T p.Q470H Missense 10/23 - 1
1-226567756-C-G c.1410G>C p.Q470H Missense 10/23 - 1
1-226567756-C-T c.1410G>A p.Q470= Synonymous 10/23 - 1
1-226567758-G-T c.1408C>A p.Q470K Missense 10/23 - 1
1-226567762-G-T c.1404C>A p.S468R Missense 10/23 - 1
1-226567763-C-T c.1403G>A p.S468N Missense 10/23 - 1
1-226567763-CT-GC c.1402_1403delinsGC p.S468A Missense 10/23 - 1
1-226567770-T-C c.1396A>G p.T466A Missense 10/23 - 1
1-226567771-GGA-CTC c.1393_1395delinsGAG p.S465E Missense 10/23 - 1
1-226567773-A-C c.1393T>G p.S465A Missense 10/23 - 1
1-226567775-G-A c.1391C>T p.A464V Missense 10/23 - 1
1-226567776-C-T c.1390G>A p.A464T Missense 10/23 - 3
1-226567777-G-A c.1389C>T p.S463= Synonymous 10/23 - 3
1-226567777-G-C c.1389C>G p.S463= Synonymous 10/23 - 2
1-226567777-G-T c.1389C>A p.S463= Synonymous 10/23 - 2
1-226567778-GA-CC c.1387_1388delinsGG p.S463G Missense 10/23 - 1
1-226567780-G-A c.1386C>T p.V462= Synonymous 10/23 - 1
1-226567780-G-C c.1386C>G p.V462= Synonymous 10/23 - 1
1-226567780-G-T c.1386C>A p.V462= Synonymous 10/23 - 1
1-226567782-C-T c.1384G>A p.V462I Missense 10/23 - 1
1-226567783-G-A c.1383C>T p.D461= Synonymous 10/23 - 3
1-226567784-T-C c.1382A>G p.D461G Missense 10/23 - 1
1-226567787-TG-GC c.1378_1379delinsGC p.Q460A Missense 10/23 - 1
1-226567789-G-A c.1377C>T p.L459= Synonymous 10/23 - 1
1-226567792-G-A c.1374C>T p.F458= Synonymous 10/23 - 2
1-226567795-G-A c.1371C>T p.D457= Synonymous 10/23 - 1
1-226567797-C-A c.1369G>T p.D457Y Missense 10/23 - 1
1-226567800-C-G c.1366G>C p.E456Q Missense 10/23 - 4
1-226567802-GA-AG c.1363_1364delinsCT p.S455L Missense 10/23 - 1
1-226567803-A-G c.1363T>C p.S455P Missense 10/23 - 1
1-226567802-GAC-G c.1362_1363del p.S455* Frameshift 10/23 - 1
1-226567810-TCG-GCT c.1354_1356delinsAGC p.R452S Missense 10/23 - 1
1-226567811-CG-GC c.1354_1355delinsGC p.R452A Missense 10/23 - 1
1-226567811-C-T c.1355G>A p.R452Q Missense 10/23 - 1
1-226567810-T-A c.1356A>T p.R452= Synonymous 10/23 - 1
1-226567810-T-C c.1356A>G p.R452= Synonymous 10/23 - 1
1-226567810-T-G c.1356A>C p.R452= Synonymous 10/23 - 1
1-226567812-G-T c.1354C>A p.R452= Synonymous 10/23 - 1
1-226567817-T-C c.1349A>G p.N450S Missense 10/23 - 2
1-226567824-C-T c.1342G>A p.E448K Missense 10/23 - 1
1-226567830-C-A c.1336G>T p.V446L Missense 10/23 - 2
1-226567832-T-G c.1334A>C p.E445A Missense 10/23 - 1
1-226567833-C-A c.1333G>T p.E445* Nonsense 10/23 - 1
1-226567836-C-A c.1330G>T p.E444* Nonsense 10/23 - 1
1-226567836-C-T c.1330G>A p.E444K Missense 10/23 - 1
1-226567838-A-G c.1328T>C p.M443T Missense 10/23 - 1
1-226567841-T-C c.1325A>G p.K442R Missense 10/23 - 1
1-226567845-T-C c.1321A>G p.K441E Missense 10/23 - 1
1-226567846-A-C c.1320T>G p.N440K Missense 10/23 - 2
1-226567846-A-T c.1320T>A p.N440K Missense 10/23 - 2
1-226567847-T-C c.1319A>G p.N440S Missense 10/23 - 2
1-226567849-C-A c.1317G>T p.M439I Missense 10/23 - 1
1-226567850-A-G c.1316T>C p.M439T Missense 10/23 - 3
1-226567851-T-C c.1315A>G p.M439V Missense 10/23 - 2
1-226567852-C-G c.1314G>C p.K438N Missense 10/23 - 1
1-226567853-T-C c.1313A>G p.K438R Missense 10/23 - 1
1-226567854-T-C c.1312A>G p.K438E Missense 10/23 - 1
1-226567857-C-T c.1309G>A p.E437K Missense 10/23 - 2
1-226567858-C-A c.1308G>T p.V436= Synonymous 10/23 - 1
1-226567858-C-T c.1308G>A p.V436= Synonymous 10/23 - 1
1-226567862-T-G c.1304A>C p.E435A Missense 10/23 - 1
1-226567865-T-C c.1301A>G p.K434R Missense 10/23 - 1
1-226568665-T-C c.1300+104A>G - IntronicSNV - 9/22 10
1-226568768-C-T c.1300+1G>A - IntronicSNV - 9/22 1
1-226568769-T-C c.1300A>G p.K434E Missense 9/23 - 1
1-226568771-T-C c.1298A>G p.K433R Missense 9/23 - 1
1-226568773-GG-CA c.1295_1296delinsTG p.T432M Missense 9/23 - 1
1-226568774-G-A c.1295C>T p.T432I Missense 9/23 - 1
1-226568775-T-C c.1294A>G p.T432A Missense 9/23 - 1
1-226568780-A-C c.1289T>G p.I430S Missense 9/23 - 1
1-226568781-T-C c.1288A>G p.I430V Missense 9/23 - 1
1-226568782-G-A c.1287C>T p.C429= Synonymous 9/23 - 1
1-226568783-C-G c.1286G>C p.C429S Missense 9/23 - 1
1-226568784-A-T c.1285T>A p.C429S Missense 9/23 - 1
1-226568786-AG-GC c.1282_1283delinsGC p.L428A Missense 9/23 - 1
1-226568787-G-A c.1282C>T p.L428= Synonymous 9/23 - 1
1-226568787-G-C c.1282C>G p.L428V Missense 9/23 - 1
1-226568789-GA-CC c.1279_1280delinsGG p.S427G Missense 9/23 - 1
1-226568790-A-G c.1279T>C p.S427P Missense 9/23 - 1
1-226568792-GC-AT c.1276_1277delinsAT p.A426I Missense 9/23 - 1
1-226568793-C-A c.1276G>T p.A426S Missense 9/23 - 1
1-226568795-T-C c.1274A>G p.K425R Missense 9/23 - 1
1-226568796-T-C c.1273A>G p.K425E Missense 9/23 - 1
1-226568797-G-C c.1272C>G p.N424K Missense 9/23 - 1
1-226568797-G-T c.1272C>A p.N424K Missense 9/23 - 1
1-226568798-T-C c.1271A>G p.N424S Missense 9/23 - 1
1-226568802-C-A c.1267G>T p.A423S Missense 9/23 - 1
1-226568803-C-A c.1266G>T p.T422= Synonymous 9/23 - 1
1-226568803-C-G c.1266G>C p.T422= Synonymous 9/23 - 1
1-226568803-C-T c.1266G>A p.T422= Synonymous 9/23 - 3
1-226568804-G-A c.1265C>T p.T422M Missense 9/23 - 4
1-226568806-CC-GT c.1262_1263delinsAC p.G421D Missense 9/23 - 1
1-226568807-C-G c.1262G>C p.G421A Missense 9/23 - 1
1-226568810-G-A c.1259C>T p.T420M Missense 9/23 - 4
1-226568816-T-C c.1253A>G p.K418R Missense 9/23 - 4
1-226568816-TT-GC c.1252_1253delinsGC p.K418A Missense 9/23 - 1
1-226568817-T-G c.1252A>C p.K418Q Missense 9/23 - 1
1-226568819-C-A c.1250G>T p.G417V Missense 9/23 - 3
1-226568820-C-A c.1249G>T p.G417W Missense 9/23 - 1
1-226568822-C-G c.1247G>C p.G416A Missense 9/23 - 1
1-226568822-C-T c.1247G>A p.G416E Missense 9/23 - 1
1-226568817-TC-T c.1251del p.K418Sfs*2 Frameshift 9/23 - 1
1-226568817-T-TC c.1251dup p.K418Efs*24 Frameshift 9/23 - 1
1-226568823-C-G c.1246G>C p.G416R Missense 9/23 - 1
1-226568823-C-T c.1246G>A p.G416R Missense 9/23 - 1
1-226568824-G-A c.1245C>T p.L415= Synonymous 9/23 - 1
1-226568827-T-A c.1242A>T p.K414N Missense 9/23 - 1
1-226568827-T-C c.1242A>G p.K414= Synonymous 9/23 - 1
1-226568827-T-G c.1242A>C p.K414N Missense 9/23 - 1
1-226568828-T-C c.1241A>G p.K414R Missense 9/23 - 1
1-226568829-T-C c.1240A>G p.K414E Missense 9/23 - 1
1-226568829-T-G c.1240A>C p.K414Q Missense 9/23 - 1
1-226568831-T-G c.1238A>C p.E413A Missense 9/23 - 1
1-226568835-T-C c.1234A>G p.I412V Missense 9/23 - 1
1-226568836-C-T c.1233G>A p.M411I Missense 9/23 - 1
1-226568837-A-T c.1232T>A p.M411K Missense 9/23 - 1
1-226568840-G-A c.1229C>T p.A410V Missense 9/23 - 3
1-226568842-C-T c.1227G>A p.K409= Synonymous 9/23 - 1
1-226568842-CTT-GTC c.1225_1227delinsGAC p.K409D Missense 9/23 - 1
1-226568843-T-C c.1226A>G p.K409R Missense 9/23 - 1
1-226568845-CAC-GAT c.1222_1224delinsATC p.V408I Missense 9/23 - 1
1-226568846-A-C c.1223T>G p.V408G Missense 9/23 - 1
1-226568850-C-G c.1219G>C p.E407Q Missense 9/23 - 1
1-226568852-T-C c.1217A>G p.D406G Missense 9/23 - 1
1-226568858-T-G c.1211A>C p.N404T Missense 9/23 - 1
1-226568860-C-A c.1209G>T p.R403= Synonymous 9/23 - 4
1-226568860-C-G c.1209G>C p.R403= Synonymous 9/23 - 4
1-226568860-C-T c.1209G>A p.R403= Synonymous 9/23 - 5
1-226568862-G-A c.1207C>T p.R403W Missense 9/23 - 1
1-226568862-G-T c.1207C>A p.R403= Synonymous 9/23 - 4
1-226568865-A-C c.1204T>G p.S402A Missense 9/23 - 1
1-226568866-C-A c.1203G>T p.L401= Synonymous 9/23 - 2
1-226568868-G-A c.1201C>T p.L401= Synonymous 9/23 - 1
1-226568869-C-T c.1200G>A p.K400= Synonymous 9/23 - 1
1-226568870-T-C c.1199A>G p.K400R Missense 9/23 - 1
1-226568872-C-A c.1197G>T p.G399= Synonymous 9/23 - 1
1-226568872-C-G c.1197G>C p.G399= Synonymous 9/23 - 1
1-226568872-C-T c.1197G>A p.G399= Synonymous 9/23 - 1
1-226568873-C-A c.1196G>T p.G399V Missense 9/23 - 1
1-226568873-C-G c.1196G>C p.G399A Missense 9/23 - 5
1-226568874-C-A c.1195G>T p.G399W Missense 9/23 - 1
1-226568874-C-T c.1195G>A p.G399R Missense 9/23 - 1
1-226568875-G-A c.1194C>T p.L398= Synonymous 9/23 - 1
1-226568875-G-C c.1194C>G p.L398= Synonymous 9/23 - 1
1-226568875-G-T c.1194C>A p.L398= Synonymous 9/23 - 1
1-226568877-G-A c.1192C>T p.L398F Missense 9/23 - 3
1-226568879-G-A c.1190C>T p.T397I Missense 9/23 - 1
1-226568880-T-A c.1189A>T p.T397S Missense 9/23 - 1
1-226568882-AG-GC c.1186_1187delinsGC p.L396A Missense 9/23 - 1
1-226568883-G-A c.1186C>T p.L396= Synonymous 9/23 - 1
1-226568883-G-C c.1186C>G p.L396V Missense 9/23 - 1
1-226568884-G-A c.1185C>T p.I395= Synonymous 9/23 - 1
1-226568889-T-C c.1180A>G p.K394E Missense 9/23 - 2
1-226568889-T-G c.1180A>C p.K394Q Missense 9/23 - 1
1-226568893-TG-T c.1176del p.N392Kfs*2 Frameshift 9/23 - 1
1-226568894-T-C c.1175A>G p.N392S Missense 9/23 - 1
1-226568897-G-C c.1172C>G p.S391C Missense 9/23 - 1
1-226568898-A-C c.1171T>G p.S391A Missense 9/23 - 1
1-226568899-T-A c.1170A>T p.L390F Missense 9/23 - 1
1-226568899-T-G c.1170A>C p.L390F Missense 9/23 - 1
1-226568906-T-C c.1163A>G p.K388R Missense 9/23 - 2
1-226568906-TT-GC c.1162_1163delinsGC p.K388A Missense 9/23 - 1
1-226568909-T-C c.1160A>G p.D387G Missense 9/23 - 1
1-226568909-T-G c.1160A>C p.D387A Missense 9/23 - 3
1-226569375-G-C c.1160-466C>G - IntronicSNV - 8/22 8
1-226570211-C-G c.1159+526G>C - IntronicSNV - 8/22 3
1-226570211-C-T c.1159+526G>A - IntronicSNV - 8/22 3
1-226570740-C-T c.1156G>A p.A386T Missense 8/23 - 1
1-226570742-G-A c.1154C>T p.S385L Missense 8/23 - 1
1-226570742-GA-CC c.1153_1154delinsGG p.S385G Missense 8/23 - 2
1-226570743-A-C c.1153T>G p.S385A Missense 8/23 - 1
1-226570745-AG-A c.1151del p.A384Vfs*10 Frameshift 8/23 - 1
1-226570745-G-A c.1151C>T p.A384V Missense 8/23 - 1
1-226570746-C-T c.1150G>A p.A384T Missense 8/23 - 2
1-226570748-G-A c.1148C>T p.S383F Missense 8/23 - 4
1-226570748-G-T c.1148C>A p.S383Y Missense 8/23 - 22
1-226570749-A-C c.1147T>G p.S383A Missense 8/23 - 1
1-226570749-A-G c.1147T>C p.S383P Missense 8/23 - 1
1-226570751-GA-TT c.1144_1145delinsAA p.S382N Missense 8/23 - 1
1-226570751-G-T c.1145C>A p.S382Y Missense 8/23 - 1
1-226570755-T-A c.1141A>T p.N381Y Missense 8/23 - 1
1-226570761-C-A c.1135G>T p.A379S Missense 8/23 - 1
1-226570763-G-T c.1133C>A p.A378D Missense 8/23 - 1
1-226570767-G-A c.1129C>T p.P377S Missense 8/23 - 11
1-226570767-G-T c.1129C>A p.P377T Missense 8/23 - 1
1-226570769-G-A c.1127C>T p.A376V Missense 8/23 - 1
1-226570771-CG-AA c.1124_1125delinsTT p.S375F Missense 8/23 - 1
1-226570772-G-A c.1124C>T p.S375L Missense 8/23 - 3
1-226570772-G-C c.1124C>G p.S375W Missense 8/23 - 1
1-226570772-G-T c.1124C>A p.S375* Nonsense 8/23 - 1
1-226570774-G-A c.1122C>T p.A374= Synonymous 8/23 - 1
1-226570774-G-C c.1122C>G p.A374= Synonymous 8/23 - 1
1-226570774-G-T c.1122C>A p.A374= Synonymous 8/23 - 1
1-226570776-C-T c.1120G>A p.A374T Missense 8/23 - 2
1-226570777-CTGT-C c.1117_1119del p.T373del InFrameDeletion 8/23 - 1
1-226570778-GT-TC c.1117_1118delinsGA p.T373E Missense 8/23 - 2
1-226570779-T-C c.1117A>G p.T373A Missense 8/23 - 3
1-226570780-GGA-CTC c.1114_1116delinsGAG p.S372E Missense 8/23 - 4
1-226570781-G-A c.1115C>T p.S372F Missense 8/23 - 1
1-226570781-G-C c.1115C>G p.S372C Missense 8/23 - 1
1-226570782-A-C c.1114T>G p.S372A Missense 8/23 - 3
1-226570782-A-G c.1114T>C p.S372P Missense 8/23 - 1
1-226570784-G-A c.1112C>T p.P371L Missense 8/23 - 2
1-226570784-G-T c.1112C>A p.P371H Missense 8/23 - 1
1-226570785-G-A c.1111C>T p.P371S Missense 8/23 - 1
1-226570786-C-T c.1110G>A p.P370= Synonymous 8/23 - 2
1-226570787-G-A c.1109C>T p.P370L Missense 8/23 - 5
1-226570787-G-T c.1109C>A p.P370Q Missense 8/23 - 1
1-226570788-G-A c.1108C>T p.P370S Missense 8/23 - 1
1-226570790-G-A c.1106C>T p.P369L Missense 8/23 - 6
1-226570791-G-C c.1105C>G p.P369A Missense 8/23 - 1
1-226570792-C-A c.1104G>T p.T368= Synonymous 8/23 - 1
1-226570792-C-G c.1104G>C p.T368= Synonymous 8/23 - 1
1-226570792-C-T c.1104G>A p.T368= Synonymous 8/23 - 1
1-226570793-CGTGGCCGCCACGG-C c.1091_1103del p.S364Cfs*13 Frameshift 8/23 - 1
1-226570793-G-A c.1103C>T p.T368M Missense 8/23 - 3
1-226570793-GT-TC c.1102_1103delinsGA p.T368E Missense 8/23 - 1
1-226570794-T-C c.1102A>G p.T368A Missense 8/23 - 3
1-226570794-T-G c.1102A>C p.T368P Missense 8/23 - 3
1-226570799-G-A c.1097C>T p.A366V Missense 8/23 - 2
1-226570800-C-T c.1096G>A p.A366T Missense 8/23 - 3
1-226570803-C-T c.1093G>A p.V365M Missense 8/23 - 4
1-226570804-G-A c.1092C>T p.S364= Synonymous 8/23 - 5
1-226570804-G-C c.1092C>G p.S364= Synonymous 8/23 - 3
1-226570804-G-T c.1092C>A p.S364= Synonymous 8/23 - 7
1-226570805-G-A c.1091C>T p.S364F Missense 8/23 - 5
1-226570805-G-C c.1091C>G p.S364C Missense 8/23 - 1
1-226570806-A-G c.1090T>C p.S364P Missense 8/23 - 1
1-226570808-G-A c.1088C>T p.A363V Missense 8/23 - 1
1-226570809-C-T c.1087G>A p.A363T Missense 8/23 - 2
1-226570810-G-A c.1086C>T p.S362= Synonymous 8/23 - 1
1-226570810-G-C c.1086C>G p.S362R Missense 8/23 - 2
1-226570810-G-T c.1086C>A p.S362R Missense 8/23 - 1
1-226570812-T-G c.1084A>C p.S362R Missense 8/23 - 1
1-226570811-CT-AG c.1084_1085inv p.S362L Missense 8/23 - 1
1-226570812-T-C c.1084A>G p.S362G Missense 8/23 - 1
1-226570814-G-A c.1082C>T p.T361I Missense 8/23 - 1
1-226570814-G-T c.1082C>A p.T361N Missense 8/23 - 1
1-226570817-T-A c.1079A>T p.E360V Missense 8/23 - 1
1-226570818-C-CT c.1077dup p.E360Rfs*29 Frameshift 8/23 - 2
1-226570820-G-A c.1076C>T p.P359L Missense 8/23 - 1
1-226570820-G-T c.1076C>A p.P359Q Missense 8/23 - 1
1-226570821-G-A c.1075C>T p.P359S Missense 8/23 - 2
1-226570821-G-C c.1075C>G p.P359A Missense 8/23 - 1
1-226570822-GG-TT c.1073_1074delinsAA p.P358Q Missense 8/23 - 1
1-226570823-GG-CC c.1072_1073inv p.P358G Missense 8/23 - 1
1-226570824-G-A c.1072C>T p.P358S Missense 8/23 - 5
1-226570824-G-C c.1072C>G p.P358A Missense 8/23 - 1
1-226570819-TG-T c.1076del p.P359Qfs*22 Frameshift 8/23 - 2
1-226570819-T-TG c.1076dup p.E360Rfs*29 Frameshift 8/23 - 2
1-226570825-G-A c.1071C>T p.F357= Synonymous 8/23 - 1
1-226570825-G-C c.1071C>G p.F357L Missense 8/23 - 1
1-226570826-A-T c.1070T>A p.F357Y Missense 8/23 - 1
1-226570827-A-G c.1069T>C p.F357L Missense 8/23 - 3
1-226570832-CG-GC c.1063_1064delinsGC p.R355A Missense 8/23 - 1
1-226570832-C-T c.1064G>A p.R355H Missense 8/23 - 2
1-226570833-G-A c.1063C>T p.R355C Missense 8/23 - 2
1-226570833-G-C c.1063C>G p.R355G Missense 8/23 - 1
1-226570834-G-C c.1062C>G p.D354E Missense 8/23 - 1
1-226570835-T-C c.1061A>G p.D354G Missense 8/23 - 1
1-226570836-C-T c.1060G>A p.D354N Missense 8/23 - 1
1-226570838-T-C c.1058A>G p.Q353R Missense 8/23 - 1
1-226570839-G-GC c.1056_1057insG p.Q353Afs*36 Frameshift 8/23 - 7
1-226570840-T-C c.1056A>G p.K352= Synonymous 8/23 - 33
1-226570840-T-G c.1056A>C p.K352N Missense 8/23 - 9
1-226570841-T-C c.1055A>G p.K352R Missense 8/23 - 1
1-226570842-T-C c.1054A>G p.K352E Missense 8/23 - 1
1-226570842-T-TA c.1053_1054insT p.K352* Nonsense 8/23 - 1
1-226570844-T-C c.1052A>G p.K351R Missense 8/23 - 2
1-226570839-G-GT c.1056dup p.Q353Tfs*36 Frameshift 8/23 - 1
1-226570839-GT-G c.1056del p.K352Nfs*29 Frameshift 8/23 - 2
1-226570847-A-G c.1049T>C p.V350A Missense 8/23 - 1
1-226570848-C-T c.1048G>A p.V350I Missense 8/23 - 2
1-226570849-C-A c.1047G>T p.K349N Missense 8/23 - 1
1-226570849-C-G c.1047G>C p.K349N Missense 8/23 - 1
1-226570849-C-CT c.1046dup p.V350Gfs*2 Frameshift 8/23 - 1
1-226570851-T-C c.1045A>G p.K349E Missense 8/23 - 1
1-226570852-CAA-GTC c.1042_1044delinsGAC p.L348D Missense 8/23 - 1
1-226570853-AA-CT c.1042_1043delinsAG p.L348R Missense 8/23 - 1
1-226570853-A-G c.1043T>C p.L348S Missense 8/23 - 1
1-226570854-A-C c.1042T>G p.L348V Missense 8/23 - 1
1-226570855-T-A c.1041A>T p.K347N Missense 8/23 - 1
1-226570855-T-G c.1041A>C p.K347N Missense 8/23 - 1
1-226570856-T-C c.1040A>G p.K347R Missense 8/23 - 1
1-226570860-T-G c.1036A>C p.K346Q Missense 8/23 - 1
1-226570863-G-C c.1033C>G p.L345V Missense 8/23 - 1
1-226570865-T-C c.1031A>G p.Y344C Missense 8/23 - 1
1-226570866-A-G c.1030T>C p.Y344H Missense 8/23 - 1
1-226570868-GA-TT c.1027_1028delinsAA p.S343N Missense 8/23 - 1
1-226570869-A-G c.1027T>C p.S343P Missense 8/23 - 1
1-226570870-G-A c.1026C>T p.I342= Synonymous 8/23 - 1
1-226570872-T-C c.1024A>G p.I342V Missense 8/23 - 2
1-226570873-T-C c.1023A>G p.E341= Synonymous 8/23 - 1
1-226570874-T-G c.1022A>C p.E341A Missense 8/23 - 1
1-226570876-TC-AT c.1019_1020delinsAT p.R340H Missense 8/23 - 4
1-226570876-TCG-GCT c.1018_1020delinsAGC p.R340S Missense 8/23 - 1
1-226570877-C-A c.1019G>T p.R340L Missense 8/23 - 1
1-226570877-C-T c.1019G>A p.R340Q Missense 8/23 - 2
1-226570878-G-A c.1018C>T p.R340* Nonsense 8/23 - 4
1-226570879-G-C c.1017C>G p.F339L Missense 8/23 - 1
1-226570884-C-G c.1012G>C p.E338Q Missense 8/23 - 1
1-226570884-C-T c.1012G>A p.E338K Missense 8/23 - 2
1-226571619-G-A c.1012-735C>T - IntronicSNV - 7/22 2
1-226571619-G-C c.1012-735C>G - IntronicSNV - 7/22 2
1-226572794-C-T c.1011+411G>A - IntronicSNV - 7/22 3
1-226573188-C-T c.1011+17G>A - IntronicSNV - 7/22 1
1-226573203-A-G c.1011+2T>C - IntronicSNV - 7/22 1
1-226573206-T-C c.1010A>G p.K337R Missense 7/23 - 2
1-226573206-TT-AG c.1009_1010delinsCT p.K337L Missense 7/23 - 1
1-226573207-T-G c.1009A>C p.K337Q Missense 7/23 - 1
1-226573208-TG-AT c.1007_1008delinsAT p.P336H Missense 7/23 - 2
1-226573210-G-A c.1006C>T p.P336S Missense 7/23 - 1
1-226573210-G-T c.1006C>A p.P336T Missense 7/23 - 1
1-226573211-G-A c.1005C>T p.T335= Synonymous 7/23 - 1
1-226573211-G-C c.1005C>G p.T335= Synonymous 7/23 - 1
1-226573211-G-T c.1005C>A p.T335= Synonymous 7/23 - 1
1-226573212-GT-CA c.1003_1004delinsTG p.T335C Missense 7/23 - 1
1-226573216-C-T c.1000G>A p.V334I Missense 7/23 - 5
1-226573217-C-T c.999G>A p.W333* Nonsense 7/23 - 1
1-226573218-C-T c.998G>A p.W333* Nonsense 7/23 - 1
1-226573220-C-A c.996G>T p.E332D Missense 7/23 - 1
1-226573221-T-G c.995A>C p.E332A Missense 7/23 - 2
1-226573222-C-A c.994G>T p.E332* Nonsense 7/23 - 1
1-226573222-C-T c.994G>A p.E332K Missense 7/23 - 1
1-226573223-CT-GA c.992_993delinsTC p.K331I Missense 7/23 - 1
1-226573224-T-C c.992A>G p.K331R Missense 7/23 - 1
1-226573224-TT-AG c.991_992delinsCT p.K331L Missense 7/23 - 1
1-226573225-T-C c.991A>G p.K331E Missense 7/23 - 1
1-226573225-T-G c.991A>C p.K331Q Missense 7/23 - 1
1-226573227-C-T c.989G>A p.R330Q Missense 7/23 - 3
1-226573229-G-A c.987C>T p.N329= Synonymous 7/23 - 2
1-226573229-GTT-TTG c.985_987delinsCAA p.N329Q Missense 7/23 - 2
1-226573234-G-A c.982C>T p.P328S Missense 7/23 - 1
1-226573235-T-G c.981A>C p.T327= Synonymous 7/23 - 2
1-226573237-T-C c.979A>G p.T327A Missense 7/23 - 1
1-226573243-T-C c.973A>G p.T325A Missense 7/23 - 1
1-226573245-T-C c.971A>G p.K324R Missense 7/23 - 1
1-226573248-A-C c.968T>G p.V323G Missense 7/23 - 1
1-226573251-A-G c.965T>C p.M322T Missense 7/23 - 1
1-226573253-A-C c.963T>G p.C321W Missense 7/23 - 1
1-226573257-T-C c.959A>G p.K320R Missense 7/23 - 1
1-226573257-TT-GC c.958_959delinsGC p.K320A Missense 7/23 - 1
1-226573260-G-T c.956C>A p.T319N Missense 7/23 - 1
1-226573261-T-C c.955A>G p.T319A Missense 7/23 - 1
1-226573262-CC-AA c.953_954delinsTT p.W318F Missense 7/23 - 1
1-226573263-CA-GC c.952_953delinsGC p.W318A Missense 7/23 - 2
1-226573264-A-C c.952T>G p.W318G Missense 7/23 - 1
1-226573264-A-G c.952T>C p.W318R Missense 7/23 - 9
1-226573264-A-T c.952T>A p.W318R Missense 7/23 - 9
1-226573265-G-A c.951C>T p.A317= Synonymous 7/23 - 3
1-226573265-G-C c.951C>G p.A317= Synonymous 7/23 - 1
1-226573265-G-T c.951C>A p.A317= Synonymous 7/23 - 1
1-226573266-G-A c.950C>T p.A317V Missense 7/23 - 3
1-226573267-C-G c.949G>C p.A317P Missense 7/23 - 1
1-226573269-G-C c.947C>G p.T316S Missense 7/23 - 1
1-226573270-T-A c.946A>T p.T316S Missense 7/23 - 1
1-226573270-T-C c.946A>G p.T316A Missense 7/23 - 2
1-226573272-A-G c.944T>C p.V315A Missense 7/23 - 3
1-226573273-C-T c.943G>A p.V315I Missense 7/23 - 1
1-226573274-G-A c.942C>T p.D314= Synonymous 7/23 - 2
1-226573275-T-G c.941A>C p.D314A Missense 7/23 - 3
1-226573276-C-T c.940G>A p.D314N Missense 7/23 - 2
1-226573283-G-A c.933C>T p.C311= Synonymous 7/23 - 1
1-226573284-C-T c.932G>A p.C311Y Missense 7/23 - 1
1-226573284-C-G c.932G>C p.C311S Missense 7/23 - 1
1-226573285-A-T c.931T>A p.C311S Missense 7/23 - 1
1-226573286-G-A c.930C>T p.Y310= Synonymous 7/23 - 1
1-226573287-T-C c.929A>G p.Y310C Missense 7/23 - 1
1-226573290-T-A c.926A>T p.Y309F Missense 7/23 - 1
1-226573290-T-C c.926A>G p.Y309C Missense 7/23 - 1
1-226573296-T-G c.920A>C p.D307A Missense 7/23 - 1
1-226573297-C-G c.919G>C p.D307H Missense 7/23 - 1
1-226573297-C-T c.919G>A p.D307N Missense 7/23 - 10
1-226573298-G-A c.918C>T p.S306= Synonymous 7/23 - 5
1-226573299-CT-AA c.916_917delinsTT p.S306F Missense 7/23 - 1
1-226573299-CT-GC c.916_917delinsGC p.S306A Missense 7/23 - 1
1-226573299-CT-GG c.916_917delinsCC p.S306P Missense 7/23 - 1
1-226573301-C-A c.915G>T p.K305N Missense 7/23 - 1
1-226573301-C-G c.915G>C p.K305N Missense 7/23 - 1
1-226573304-G-A c.912C>T p.F304= Synonymous 7/23 - 4
1-226573304-G-C c.912C>G p.F304L Missense 7/23 - 1
1-226573304-G-T c.912C>A p.F304L Missense 7/23 - 1
1-226573306-A-G c.910T>C p.F304L Missense 7/23 - 2
1-226573308-AC-CA c.907_908delinsTG p.V303C Missense 7/23 - 1
1-226573308-AC-CG c.907_908delinsCG p.V303R Missense 7/23 - 1
1-226573311-A-G c.905T>C p.L302P Missense 7/23 - 1
1-226573314-T-G c.902A>C p.Q301P Missense 7/23 - 1
1-226573315-G-A c.901C>T p.Q301* Nonsense 7/23 - 1
1-226573317-C-T c.899G>A p.G300D Missense 7/23 - 1
1-226573318-C-A c.898G>T p.G300C Missense 7/23 - 4
1-226573318-C-T c.898G>A p.G300S Missense 7/23 - 3
1-226573319-C-A c.897G>T p.S299= Synonymous 7/23 - 2
1-226573319-C-G c.897G>C p.S299= Synonymous 7/23 - 1
1-226573319-C-T c.897G>A p.S299= Synonymous 7/23 - 2
1-226573320-G-A c.896C>T p.S299L Missense 7/23 - 1
1-226573320-GA-TC c.895_896inv p.S299E Missense 7/23 - 1
1-226573323-CA-GC c.892_893delinsGC p.C298A Missense 7/23 - 1
1-226573327-C-A c.889G>T p.E297* Nonsense 7/23 - 1
1-226573327-C-T c.889G>A p.E297K Missense 7/23 - 2
1-226573330-C-A c.886G>T p.E296* Nonsense 7/23 - 1
1-226573330-C-T c.886G>A p.E296K Missense 7/23 - 1
1-226573332-C-G c.884G>C p.C295S Missense 7/23 - 1
1-226573333-A-T c.883T>A p.C295S Missense 7/23 - 1
1-226573334-G-A c.882C>T p.P294= Synonymous 7/23 - 1
1-226573335-G-A c.881C>T p.P294L Missense 7/23 - 5
1-226573336-G-A c.880C>T p.P294S Missense 7/23 - 1
1-226573338-A-G c.878T>C p.L293P Missense 7/23 - 2
1-226573339-G-A c.877C>T p.L293F Missense 7/23 - 5
1-226573339-G-T c.877C>A p.L293I Missense 7/23 - 1
1-226573340-G-A c.876C>T p.L292= Synonymous 7/23 - 1
1-226573342-G-A c.874C>T p.L292F Missense 7/23 - 1
1-226573343-G-A c.873C>T p.A291= Synonymous 7/23 - 2
1-226573344-G-A c.872C>T p.A291V Missense 7/23 - 3
1-226573348-C-T c.868G>A p.G290S Missense 7/23 - 4
1-226573349-G-A c.867C>T p.F289= Synonymous 7/23 - 1
1-226573353-AC-TG c.862_863delinsCA p.V288Q Missense 7/23 - 1
1-226573353-A-G c.863T>C p.V288A Missense 7/23 - 1
1-226573354-C-T c.862G>A p.V288M Missense 7/23 - 2
1-226573356-A-C c.860T>G p.M287R Missense 7/23 - 1
1-226573357-T-A c.859A>T p.M287L Missense 7/23 - 1
1-226573359-C-T c.857G>A p.G286D Missense 7/23 - 1
1-226573363-C-T c.853G>A p.D285N Missense 7/23 - 3
1-226573364-A-C c.852T>G p.A284= Synonymous 7/23 - 5
1-226573364-A-G c.852T>C p.A284= Synonymous 7/23 - 36
1-226573364-A-T c.852T>A p.A284= Synonymous 7/23 - 17
1-226573365-G-A c.851C>T p.A284V Missense 7/23 - 1
1-226573370-TCG-CCA c.844_846delinsTGG p.R282W Missense 7/23 - 2
1-226573371-C-G c.845G>C p.R282P Missense 7/23 - 1
1-226573371-C-T c.845G>A p.R282Q Missense 7/23 - 1
1-226573370-T-A c.846A>T p.R282= Synonymous 7/23 - 1
1-226573370-T-C c.846A>G p.R282= Synonymous 7/23 - 1
1-226573370-T-G c.846A>C p.R282= Synonymous 7/23 - 1
1-226573372-G-A c.844C>T p.R282* Nonsense 7/23 - 1
1-226573372-G-C c.844C>G p.R282G Missense 7/23 - 1
1-226573372-G-T c.844C>A p.R282= Synonymous 7/23 - 1
1-226573373-G-C c.843C>G p.D281E Missense 7/23 - 1
1-226573373-G-T c.843C>A p.D281E Missense 7/23 - 1
1-226573375-C-G c.841G>C p.D281H Missense 7/23 - 2
1-226573375-C-T c.841G>A p.D281N Missense 7/23 - 1
1-226573377-AA-TG c.838_839delinsCA p.L280Q Missense 7/23 - 1
1-226573380-A-G c.836T>C p.I279T Missense 7/23 - 1
1-226573402-T-C c.835-21A>G - IntronicSNV - 6/22 8
1-226573749-G-T c.834+278C>A - IntronicSNV - 6/22 1
1-226573832-G-A c.834+195C>T - IntronicSNV - 6/22 1
1-226573988-C-A c.834+39G>T - IntronicSNV - 6/22 1
1-226574024-C-G c.834+3G>C - IntronicSNV - 6/22 1
1-226574028-G-A c.833C>T p.A278V Missense 6/23 - 3
1-226574030-C-A c.831G>T p.S277= Synonymous 6/23 - 1
1-226574030-C-G c.831G>C p.S277= Synonymous 6/23 - 1
1-226574030-C-T c.831G>A p.S277= Synonymous 6/23 - 1
1-226574031-GA-CC c.829_830delinsGG p.S277G Missense 6/23 - 1
1-226574035-C-A c.826G>T p.E276* Nonsense 6/23 - 1
1-226574035-C-G c.826G>C p.E276Q Missense 6/23 - 1
1-226574036-CCC-ACA c.823_825delinsTGT p.G275C Missense 6/23 - 1
1-226574037-C-A c.824G>T p.G275V Missense 6/23 - 1
1-226574040-G-A c.821C>T p.S274F Missense 6/23 - 3
1-226574043-G-A c.818C>T p.P273L Missense 6/23 - 1
1-226574044-G-C c.817C>G p.P273A Missense 6/23 - 1
1-226574046-A-T c.815T>A p.V272E Missense 6/23 - 1
1-226574047-C-A c.814G>T p.V272L Missense 6/23 - 1
1-226574047-C-G c.814G>C p.V272L Missense 6/23 - 1
1-226574049-T-G c.812A>C p.Q271P Missense 6/23 - 1
1-226574052-T-C c.809A>G p.Q270R Missense 6/23 - 1
1-226574053-G-T c.808C>A p.Q270K Missense 6/23 - 1
1-226574054-C-T c.807G>A p.K269= Synonymous 6/23 - 1
1-226574055-TT-GC c.805_806delinsGC p.K269A Missense 6/23 - 1
1-226574056-T-C c.805A>G p.K269E Missense 6/23 - 2
1-226574057-G-T c.804C>A p.N268K Missense 6/23 - 1
1-226574058-T-C c.803A>G p.N268S Missense 6/23 - 1
1-226574058-T-G c.803A>C p.N268T Missense 6/23 - 2
1-226574060-G-A c.801C>T p.F267= Synonymous 6/23 - 2
1-226574061-AA-GC c.799_800delinsGC p.F267A Missense 6/23 - 1
1-226574067-A-C c.794T>G p.L265R Missense 6/23 - 1
1-226574067-A-G c.794T>C p.L265P Missense 6/23 - 1
1-226574068-G-A c.793C>T p.L265F Missense 6/23 - 1
1-226574073-T-G c.788A>C p.E263A Missense 6/23 - 1
1-226574074-C-A c.787G>T p.E263* Nonsense 6/23 - 2
1-226574074-C-G c.787G>C p.E263Q Missense 6/23 - 1
1-226574078-CA-AT c.782_783delinsAT p.L261H Missense 6/23 - 1
1-226574080-G-A c.781C>T p.L261= Synonymous 6/23 - 1
1-226574081-GTCATTAGTTGAACACACTTTC-G c.759_779del p.K253_D260delinsN MultiAAMissense 6/23 - 1
1-226574085-T-C c.776A>G p.N259S Missense 6/23 - 2
1-226574087-AG-CA c.773_774delinsTG p.T258M Missense 6/23 - 1
1-226574090-TG-AC c.770_771delinsGT p.S257C Missense 6/23 - 1
1-226574090-TGA-GTC c.769_771delinsGAC p.S257D Missense 6/23 - 1
1-226574091-G-A c.770C>T p.S257L Missense 6/23 - 1
1-226574091-GA-TC c.769_770inv p.S257E Missense 6/23 - 1
1-226574092-A-G c.769T>C p.S257P Missense 6/23 - 1
1-226574093-A-G c.768T>C p.C256= Synonymous 6/23 - 1
1-226574094-CA-GC c.766_767delinsGC p.C256A Missense 6/23 - 2
1-226574095-A-G c.766T>C p.C256R Missense 6/23 - 3
1-226574096-C-A c.765G>T p.V255= Synonymous 6/23 - 1
1-226574096-C-G c.765G>C p.V255= Synonymous 6/23 - 1
1-226574096-C-T c.765G>A p.V255= Synonymous 6/23 - 2
1-226574098-C-T c.763G>A p.V255M Missense 6/23 - 1
1-226574099-T-A c.762A>T p.K254N Missense 6/23 - 1
1-226574099-T-G c.762A>C p.K254N Missense 6/23 - 1
1-226574100-T-C c.761A>G p.K254R Missense 6/23 - 2
1-226574100-TT-GC c.760_761delinsGC p.K254A Missense 6/23 - 1
1-226574102-C-A c.759G>T p.K253N Missense 6/23 - 1
1-226574102-C-G c.759G>C p.K253N Missense 6/23 - 2
1-226574104-T-C c.757A>G p.K253E Missense 6/23 - 1
1-226574102-C-CT c.758dup p.K254Efs*6 Frameshift 6/23 - 1
1-226574107-G-A c.754C>T p.L252= Synonymous 6/23 - 1
1-226574110-C-T c.751G>A p.E251K Missense 6/23 - 3
1-226574111-G-A c.750C>T p.D250= Synonymous 6/23 - 3
1-226574115-T-C c.746A>G p.K249R Missense 6/23 - 7
1-226574115-TT-AG c.745_746delinsCT p.K249L Missense 6/23 - 1
1-226574116-T-C c.745A>G p.K249E Missense 6/23 - 1
1-226574122-T-A c.739A>T p.N247Y Missense 6/23 - 1
1-226574124-C-A c.737G>T p.W246L Missense 6/23 - 1
1-226574124-CA-GC c.736_737delinsGC p.W246A Missense 6/23 - 5
1-226574124-C-T c.737G>A p.W246* Nonsense 6/23 - 1
1-226574127-A-G c.734T>C p.I245T Missense 6/23 - 1
1-226574128-T-C c.733A>G p.I245V Missense 6/23 - 1
1-226574129-C-A c.732G>T p.L244= Synonymous 6/23 - 1
1-226574129-C-G c.732G>C p.L244= Synonymous 6/23 - 1
1-226574129-C-T c.732G>A p.L244= Synonymous 6/23 - 3
1-226574131-G-A c.730C>T p.L244= Synonymous 6/23 - 1
1-226574134-C-T c.727G>A p.D243N Missense 6/23 - 2
1-226574135-GTT-CCA c.724_726delinsTGG p.N242W Missense 6/23 - 1
1-226574136-TT-GC c.724_725delinsGC p.N242A Missense 6/23 - 1
1-226574139-T-A c.722A>T p.Q241L Missense 6/23 - 1
1-226574139-TG-GC c.721_722delinsGC p.Q241A Missense 6/23 - 1
1-226574140-G-C c.721C>G p.Q241E Missense 6/23 - 1
1-226574142-G-A c.719C>T p.A240V Missense 6/23 - 1
1-226574143-C-T c.718G>A p.A240T Missense 6/23 - 1
1-226574554-C-T c.718-411G>A - IntronicSNV - 5/22 2
1-226575303-A-G c.717+1054T>C - IntronicSNV - 5/22 1
1-226576270-A-G c.717+87T>C - IntronicSNV - 5/22 7
1-226576296-G-A c.717+61C>T - IntronicSNV - 5/22 10
1-226576329-G-A c.717+28C>T - IntronicSNV - 5/22 1
1-226576335-A-G c.717+22T>C - IntronicSNV - 5/22 1
1-226576336-G-A c.717+21C>T - IntronicSNV - 5/22 1
1-226576358-T-C c.716A>G p.K239R Missense 5/23 - 1
1-226576363-G-A c.711C>T p.A237= Synonymous 5/23 - 1
1-226576365-C-T c.709G>A p.A237T Missense 5/23 - 1
1-226576365-GC-G c.709del p.A237Pfs*2 Frameshift 5/23 - 1
1-226576366-T-C c.708A>G p.K236= Synonymous 5/23 - 2
1-226576365-CT-C c.708del p.A237Pfs*2 Frameshift 5/23 - 1
1-226576371-C-A c.703G>T p.E235* Nonsense 5/23 - 2
1-226576371-C-G c.703G>C p.E235Q Missense 5/23 - 1
1-226576371-C-T c.703G>A p.E235K Missense 5/23 - 1
1-226576372-A-G c.702T>C p.L234= Synonymous 5/23 - 1
1-226576373-AG-GC c.700_701delinsGC p.L234A Missense 5/23 - 1
1-226576374-G-A c.700C>T p.L234F Missense 5/23 - 1
1-226576376-T-C c.698A>G p.K233R Missense 5/23 - 1
1-226576377-T-TA c.696dup p.K233* Nonsense 5/23 - 1
1-226576379-C-T c.695G>A p.S232N Missense 5/23 - 1
1-226576379-CT-GC c.694_695delinsGC p.S232A Missense 5/23 - 2
1-226576382-T-G c.692A>C p.D231A Missense 5/23 - 1
1-226576384-C-A c.690G>T p.K230N Missense 5/23 - 1
1-226576385-T-C c.689A>G p.K230R Missense 5/23 - 1
1-226576385-TT-GG c.688_689delinsCC p.K230P Missense 5/23 - 1
1-226576386-T-G c.688A>C p.K230Q Missense 5/23 - 1
1-226576387-G-T c.687C>A p.D229E Missense 5/23 - 1
1-226576388-T-A c.686A>T p.D229V Missense 5/23 - 2
1-226576395-C-T c.679G>A p.E227K Missense 5/23 - 3
1-226576397-T-C c.677A>G p.K226R Missense 5/23 - 3
1-226576398-T-TA c.675_676insT p.K226* Nonsense 5/23 - 1
1-226576400-TT-GC c.673_674delinsGC p.K225A Missense 5/23 - 2
1-226576401-T-C c.673A>G p.K225E Missense 5/23 - 1
1-226576405-T-A c.669A>T p.K223N Missense 5/23 - 1
1-226576407-T-C c.667A>G p.K223E Missense 5/23 - 1
1-226576408-CT-GA c.665_666delinsTC p.K222I Missense 5/23 - 2
1-226576409-T-C c.665A>G p.K222R Missense 5/23 - 1
1-226576411-C-A c.663G>T p.K221N Missense 5/23 - 2
1-226576411-C-T c.663G>A p.K221= Synonymous 5/23 - 3
1-226576412-T-C c.662A>G p.K221R Missense 5/23 - 3
1-226576412-TT-GC c.661_662delinsGC p.K221A Missense 5/23 - 6
1-226576414-C-A c.660G>T p.A220= Synonymous 5/23 - 1
1-226576414-C-G c.660G>C p.A220= Synonymous 5/23 - 1
1-226576414-C-T c.660G>A p.A220= Synonymous 5/23 - 2
1-226576415-G-A c.659C>T p.A220V Missense 5/23 - 9
1-226576415-G-C c.659C>G p.A220G Missense 5/23 - 1
1-226576416-C-G c.658G>C p.A220P Missense 5/23 - 1
1-226576417-CAC-GAT c.655_657delinsATC p.V219I Missense 5/23 - 3
1-226576422-C-T c.652G>A p.E218K Missense 5/23 - 4
1-226576423-A-C c.651T>G p.D217E Missense 5/23 - 1
1-226576423-A-T c.651T>A p.D217E Missense 5/23 - 1
1-226576425-C-A c.649G>T p.D217Y Missense 5/23 - 1
1-226576427-A-G c.647T>C p.V216A Missense 5/23 - 1
1-226576428-C-T c.646G>A p.V216M Missense 5/23 - 1
1-226576429-T-A c.645A>T p.G215= Synonymous 5/23 - 1
1-226576429-T-C c.645A>G p.G215= Synonymous 5/23 - 1
1-226576429-TCC-ACA c.643_645delinsTGT p.G215C Missense 5/23 - 1
1-226576429-T-G c.645A>C p.G215= Synonymous 5/23 - 2
1-226576430-C-G c.644G>C p.G215A Missense 5/23 - 1
1-226576430-C-T c.644G>A p.G215E Missense 5/23 - 1
1-226576432-A-C c.642T>G p.D214E Missense 5/23 - 1
1-226576432-A-T c.642T>A p.D214E Missense 5/23 - 1
1-226576433-T-C c.641A>G p.D214G Missense 5/23 - 1
1-226576433-T-G c.641A>C p.D214A Missense 5/23 - 6
1-226576434-C-A c.640G>T p.D214Y Missense 5/23 - 1
1-226576434-C-T c.640G>A p.D214N Missense 5/23 - 13
1-226576437-C-A c.637G>T p.V213L Missense 5/23 - 1
1-226576439-T-G c.635A>C p.E212A Missense 5/23 - 2
1-226576440-C-G c.634G>C p.E212Q Missense 5/23 - 1
1-226576443-C-T c.631G>A p.D211N Missense 5/23 - 1
1-226576444-G-A c.630C>T p.G210= Synonymous 5/23 - 3
1-226576444-G-C c.630C>G p.G210= Synonymous 5/23 - 1
1-226576444-GCC-CTT c.628_630delinsAAG p.G210K Missense 5/23 - 1
1-226576444-G-T c.630C>A p.G210= Synonymous 5/23 - 1
1-226576446-C-A c.628G>T p.G210C Missense 5/23 - 1
1-226576446-C-T c.628G>A p.G210S Missense 5/23 - 1
1-226576448-TT-GC c.625_626delinsGC p.K209A Missense 5/23 - 1
1-226576450-TCT-ACA c.622_624delinsTGT p.R208C Missense 5/23 - 2
1-226576450-TCT-CCA c.622_624delinsTGG p.R208W Missense 5/23 - 1
1-226576451-CT-GC c.622_623delinsGC p.R208A Missense 5/23 - 1
1-226576451-CT-TG c.622_623delinsCA p.R208Q Missense 5/23 - 1
1-226576453-C-A c.621G>T p.K207N Missense 5/23 - 1
1-226576453-C-G c.621G>C p.K207N Missense 5/23 - 1
1-226576454-T-C c.620A>G p.K207R Missense 5/23 - 2
1-226576455-T-C c.619A>G p.K207E Missense 5/23 - 1
1-226576530-A-G c.618-74T>C - IntronicSNV - 4/22 1
1-226576906-T-C c.618-450A>G - IntronicSNV - 4/22 1
1-226577306-C-T c.617+805G>A - IntronicSNV - 4/22 3
1-226577594-T-C c.617+517A>G - IntronicSNV - 4/22 1
1-226578047-G-C c.617+64C>G - IntronicSNV - 4/22 4
1-226578047-G-T c.617+64C>A - IntronicSNV - 4/22 4
1-226578099-T-C c.617+12A>G - IntronicSNV - 4/22 13
1-226578111-C-G c.617G>C p.G206A Missense 4/23 - 1
1-226578112-C-G c.616G>C p.G206R Missense 4/23 - 1
1-226578112-C-T c.616G>A p.G206R Missense 4/23 - 1
1-226578114-T-G c.614A>C p.E205A Missense 4/23 - 1
1-226578115-C-T c.613G>A p.E205K Missense 4/23 - 1
1-226578117-CT-GC c.610_611delinsGC p.S204A Missense 4/23 - 2
1-226578120-T-C c.608A>G p.K203R Missense 4/23 - 4
1-226578120-TT-GC c.607_608delinsGC p.K203A Missense 4/23 - 1
1-226578121-T-G c.607A>C p.K203Q Missense 4/23 - 1
1-226578121-T-TC c.606_607insG p.K203Efs*3 Frameshift 4/23 - 1
1-226578122-G-A c.606C>T p.V202= Synonymous 4/23 - 1
1-226578122-G-C c.606C>G p.V202= Synonymous 4/23 - 1
1-226578122-G-T c.606C>A p.V202= Synonymous 4/23 - 1
1-226578124-C-A c.604G>T p.V202F Missense 4/23 - 1
1-226578125-T-C c.603A>G p.G201= Synonymous 4/23 - 1
1-226578129-G-C c.599C>G p.P200R Missense 4/23 - 1
1-226578130-G-A c.598C>T p.P200S Missense 4/23 - 1
1-226578130-G-C c.598C>G p.P200A Missense 4/23 - 1
1-226578131-G-A c.597C>T p.L199= Synonymous 4/23 - 4
1-226578131-GAG-CCA c.595_597delinsTGG p.L199W Missense 4/23 - 1
1-226578133-G-C c.595C>G p.L199V Missense 4/23 - 1
1-226578134-C-T c.594G>A p.Q198= Synonymous 4/23 - 2
1-226578137-CT-GA c.590_591delinsTC p.K197I Missense 4/23 - 1
1-226578138-T-C c.590A>G p.K197R Missense 4/23 - 2
1-226578139-T-G c.589A>C p.K197Q Missense 4/23 - 2
1-226578141-T-C c.587A>G p.K196R Missense 4/23 - 1
1-226578141-T-G c.587A>C p.K196T Missense 4/23 - 1
1-226578142-T-G c.586A>C p.K196Q Missense 4/23 - 1
1-226578146-G-A c.582C>T p.A194= Synonymous 4/23 - 1
1-226578147-G-A c.581C>T p.A194V Missense 4/23 - 2
1-226578149-T-C c.579A>G p.E193= Synonymous 4/23 - 1
1-226578151-C-T c.577G>A p.E193K Missense 4/23 - 1
1-226578156-T-G c.572A>C p.D191A Missense 4/23 - 1
1-226578157-C-G c.571G>C p.D191H Missense 4/23 - 2
1-226578157-C-T c.571G>A p.D191N Missense 4/23 - 1
1-226578158-C-A c.570G>T p.E190D Missense 4/23 - 2
1-226578158-C-G c.570G>C p.E190D Missense 4/23 - 1
1-226578160-C-G c.568G>C p.E190Q Missense 4/23 - 1
1-226578161-TGT-ACA c.565_567inv p.T189C Missense 4/23 - 1
1-226578165-GC-AG c.562_563delinsCT p.A188L Missense 4/23 - 1
1-226578165-G-T c.563C>A p.A188D Missense 4/23 - 1
1-226578166-C-T c.562G>A p.A188T Missense 4/23 - 6
1-226578167-A-C c.561T>G p.L187= Synonymous 4/23 - 2
1-226578167-A-G c.561T>C p.L187= Synonymous 4/23 - 2
1-226578167-A-T c.561T>A p.L187= Synonymous 4/23 - 2
1-226578168-A-T c.560T>A p.L187H Missense 4/23 - 1
1-226578170-G-A c.558C>T p.L186= Synonymous 4/23 - 2
1-226578170-G-C c.558C>G p.L186= Synonymous 4/23 - 1
1-226578170-G-T c.558C>A p.L186= Synonymous 4/23 - 1
1-226578172-G-A c.556C>T p.L186F Missense 4/23 - 2
1-226578172-G-C c.556C>G p.L186V Missense 4/23 - 1
1-226578174-C-T c.554G>A p.S185N Missense 4/23 - 2
1-226578174-CT-GC c.553_554delinsGC p.S185A Missense 4/23 - 1
1-226578174-CT-TC c.553_554delinsGA p.S185D Missense 4/23 - 1
1-226578175-T-A c.553A>T p.S185C Missense 4/23 - 1
1-226578176-G-A c.552C>T p.F184= Synonymous 4/23 - 1
1-226578176-G-C c.552C>G p.F184L Missense 4/23 - 1
1-226578177-AA-GC c.550_551delinsGC p.F184A Missense 4/23 - 1
1-226578177-A-T c.551T>A p.F184Y Missense 4/23 - 1
1-226578179-G-A c.549C>T p.G183= Synonymous 4/23 - 3
1-226578179-G-C c.549C>G p.G183= Synonymous 4/23 - 2
1-226578179-G-T c.549C>A p.G183= Synonymous 4/23 - 2
1-226578181-C-A c.547G>T p.G183C Missense 4/23 - 1
1-226578181-C-G c.547G>C p.G183R Missense 4/23 - 1
1-226578183-T-C c.545A>G p.K182R Missense 4/23 - 2
1-226578184-T-G c.544A>C p.K182Q Missense 4/23 - 1
1-226578186-A-T c.542T>A p.L181H Missense 4/23 - 1
1-226578188-C-A c.540G>T p.Q180H Missense 4/23 - 1
1-226578191-A-G c.537T>C p.S179= Synonymous 4/23 - 1
1-226578192-CT-AA c.535_536delinsTT p.S179F Missense 4/23 - 2
1-226578192-CT-GC c.535_536delinsGC p.S179A Missense 4/23 - 2
1-226578192-CT-TC c.535_536delinsGA p.S179D Missense 4/23 - 1
1-226578194-C-T c.534G>A p.A178= Synonymous 4/23 - 1
1-226578195-G-A c.533C>T p.A178V Missense 4/23 - 3
1-226578196-C-T c.532G>A p.A178T Missense 4/23 - 1
1-226578197-ACT-CTC c.529_531delinsGAG p.S177E Missense 4/23 - 5
1-226578198-C-T c.530G>A p.S177N Missense 4/23 - 1
1-226578198-CT-GC c.529_530delinsGC p.S177A Missense 4/23 - 2
1-226578198-CT-GG c.529_530delinsCC p.S177P Missense 4/23 - 1
1-226578198-CT-TA c.529_530delinsTA p.S177Y Missense 4/23 - 1
1-226578198-CT-TC c.529_530delinsGA p.S177D Missense 4/23 - 1
1-226578201-T-A c.527A>T p.Y176F Missense 4/23 - 1
1-226578201-TA-AG c.526_527delinsCT p.Y176L Missense 4/23 - 1
1-226578201-TA-GC c.526_527delinsGC p.Y176A Missense 4/23 - 1
1-226578201-T-G c.527A>C p.Y176S Missense 4/23 - 1
1-226578205-C-G c.523G>C p.E175Q Missense 4/23 - 6
1-226578205-C-T c.523G>A p.E175K Missense 4/23 - 3
1-226578206-G-A c.522C>T p.P174= Synonymous 4/23 - 1
1-226578206-G-C c.522C>G p.P174= Synonymous 4/23 - 1
1-226578206-G-T c.522C>A p.P174= Synonymous 4/23 - 1
1-226578208-G-T c.520C>A p.P174T Missense 4/23 - 1
1-226578209-CC-AT c.518_519delinsAT p.R173H Missense 4/23 - 1
1-226578209-CCG-ACA c.517_519delinsTGT p.R173C Missense 4/23 - 1
1-226578210-C-A c.518G>T p.R173L Missense 4/23 - 1
1-226578210-CG-GC c.517_518delinsGC p.R173A Missense 4/23 - 1
1-226578210-CG-TT c.517_518delinsAA p.R173K Missense 4/23 - 1
1-226578210-C-T c.518G>A p.R173Q Missense 4/23 - 3
1-226578211-G-A c.517C>T p.R173W Missense 4/23 - 1
1-226578212-G-A c.516C>T p.F172= Synonymous 4/23 - 1
1-226578216-C-T c.512G>A p.G171D Missense 4/23 - 1
1-226578220-G-A c.508C>T p.L170= Synonymous 4/23 - 1
1-226578220-G-C c.508C>G p.L170V Missense 4/23 - 1
1-226578220-G-T c.508C>A p.L170M Missense 4/23 - 1
1-226578221-C-T c.507G>A p.E169= Synonymous 4/23 - 1
1-226578223-C-G c.505G>C p.E169Q Missense 4/23 - 1
1-226578226-C-T c.502G>A p.E168K Missense 4/23 - 1
1-226578227-CCT-ATG c.499_501delinsCAT p.R167H Missense 4/23 - 2
1-226578227-C-T c.501G>A p.R167= Synonymous 4/23 - 1
1-226578228-CT-AG c.499_500inv p.R167L Missense 4/23 - 1
1-226578229-T-A c.499A>T p.R167W Missense 4/23 - 1
1-226578233-C-A c.495G>T p.K165N Missense 4/23 - 1
1-226578233-C-G c.495G>C p.K165N Missense 4/23 - 2
1-226578234-T-G c.494A>C p.K165T Missense 4/23 - 1
1-226578234-TT-GC c.493_494delinsGC p.K165A Missense 4/23 - 1
1-226578242-G-A c.486C>T p.C162= Synonymous 4/23 - 1
1-226578242-G-T c.486C>A p.C162* Nonsense 4/23 - 1
1-226578243-C-T c.485G>A p.C162Y Missense 4/23 - 1
1-226578246-C-A c.482G>T p.G161V Missense 4/23 - 1
1-226578249-G-A c.479C>T p.P160L Missense 4/23 - 1
1-226578250-G-T c.478C>A p.P160T Missense 4/23 - 1
1-226578253-G-T c.475C>A p.H159N Missense 4/23 - 1
1-226578255-T-A c.473A>T p.Y158F Missense 4/23 - 1
1-226578256-TA-T c.472del p.Y158Tfs*38 Frameshift 4/23 - 1
1-226578257-CCA-GAT c.469_471delinsATC p.W157I Missense 4/23 - 1
1-226578261-C-A c.467G>T p.R156L Missense 4/23 - 1
1-226578261-C-T c.467G>A p.R156H Missense 4/23 - 2
1-226578262-G-A c.466C>T p.R156C Missense 4/23 - 3
1-226578262-G-C c.466C>G p.R156G Missense 4/23 - 1
1-226578264-T-A c.464A>T p.D155V Missense 4/23 - 1
1-226578265-C-A c.463G>T p.D155Y Missense 4/23 - 1
1-226578266-A-G c.462T>C p.I154= Synonymous 4/23 - 1
1-226578266-A-T c.462T>A p.I154= Synonymous 4/23 - 1
1-226578267-AT-GC c.460_461delinsGC p.I154A Missense 4/23 - 1
1-226578269-CA-GC c.458_459delinsGC p.M153S Missense 4/23 - 1
1-226578269-CAT-ACA c.457_459delinsTGT p.M153C Missense 4/23 - 1
1-226578270-A-G c.458T>C p.M153T Missense 4/23 - 1
1-226578270-A-T c.458T>A p.M153K Missense 4/23 - 1
1-226578270-AT-GC c.457_458delinsGC p.M153A Missense 4/23 - 1
1-226578271-T-A c.457A>T p.M153L Missense 4/23 - 1
1-226578271-T-G c.457A>C p.M153L Missense 4/23 - 1
1-226578272-G-A c.456C>T p.G152= Synonymous 4/23 - 1
1-226578273-C-G c.455G>C p.G152A Missense 4/23 - 2
1-226578273-C-T c.455G>A p.G152D Missense 4/23 - 1
1-226578276-AG-GC c.451_452delinsGC p.L151A Missense 4/23 - 3
1-226578277-G-C c.451C>G p.L151V Missense 4/23 - 1
1-226578277-G-T c.451C>A p.L151I Missense 4/23 - 1
1-226578278-C-A c.450G>T p.Q150H Missense 4/23 - 6
1-226578278-C-G c.450G>C p.Q150H Missense 4/23 - 4
1-226578278-C-T c.450G>A p.Q150= Synonymous 4/23 - 2
1-226578279-TG-GT c.448_449delinsAC p.Q150T Missense 4/23 - 2
1-226578280-G-A c.448C>T p.Q150* Nonsense 4/23 - 1
1-226578282-G-A c.446C>T p.P149L Missense 4/23 - 1
1-226578288-T-G c.440A>C p.E147A Missense 4/23 - 1
1-226578289-C-A c.439G>T p.E147* Nonsense 4/23 - 1
1-226578290-C-A c.438G>T p.P146= Synonymous 4/23 - 1
1-226578290-C-G c.438G>C p.P146= Synonymous 4/23 - 1
1-226578290-C-T c.438G>A p.P146= Synonymous 4/23 - 2
1-226578291-G-A c.437C>T p.P146L Missense 4/23 - 2
1-226578292-G-A c.436C>T p.P146S Missense 4/23 - 2
1-226578293-G-T c.435C>A p.D145E Missense 4/23 - 1
1-226578294-T-G c.434A>C p.D145A Missense 4/23 - 2
1-226578295-C-T c.433G>A p.D145N Missense 4/23 - 3
1-226578296-CAC-ACA c.430_432delinsTGT p.V144C Missense 4/23 - 1
1-226578297-A-T c.431T>A p.V144E Missense 4/23 - 2
1-226578298-C-T c.430G>A p.V144M Missense 4/23 - 1
1-226578301-T-C c.427A>G p.M143V Missense 4/23 - 1
1-226578302-CT-GA c.425_426delinsTC p.K142I Missense 4/23 - 1
1-226578303-T-C c.425A>G p.K142R Missense 4/23 - 2
1-226578305-C-A c.423G>T p.K141N Missense 4/23 - 1
1-226578305-C-G c.423G>C p.K141N Missense 4/23 - 1
1-226578305-CT-GA c.422_423delinsTC p.K141I Missense 4/23 - 1
1-226578308-GGA-CTC c.418_420delinsGAG p.S140E Missense 4/23 - 1
1-226578309-G-T c.419C>A p.S140Y Missense 4/23 - 1
1-226578312-A-G c.416T>C p.L139P Missense 4/23 - 2
1-226578313-G-A c.415C>T p.L139= Synonymous 4/23 - 1
1-226578313-G-T c.415C>A p.L139M Missense 4/23 - 1
1-226578314-G-A c.414C>T p.R138= Synonymous 4/23 - 2
1-226578314-GCG-CTC c.412_414delinsGAG p.R138E Missense 4/23 - 1
1-226578314-GCG-TCA c.412_414delinsTGA p.R138* Nonsense 4/23 - 1
1-226578315-CG-AT c.412_413delinsAT p.R138I Missense 4/23 - 2
1-226578315-CG-GC c.412_413delinsGC p.R138A Missense 4/23 - 1
1-226578316-G-A c.412C>T p.R138C Missense 4/23 - 8
1-226578317-CAC-GAT c.409_411delinsATC p.V137I Missense 4/23 - 1
1-226578320-C-A c.408G>T p.Q136H Missense 4/23 - 1
1-226578320-C-T c.408G>A p.Q136= Synonymous 4/23 - 2
1-226578321-TG-GC c.406_407delinsGC p.Q136A Missense 4/23 - 1
1-226578324-C-T c.404G>A p.G135D Missense 4/23 - 1
1-226578325-C-A c.403G>T p.G135C Missense 4/23 - 16
1-226579803-C-T c.402+97G>A - IntronicSNV - 3/22 1
1-226579900-C-A c.402G>T p.K134N Missense 3/23 - 1
1-226579900-C-G c.402G>C p.K134N Missense 3/23 - 1
1-226579900-CT-GA c.401_402delinsTC p.K134I Missense 3/23 - 1
1-226579901-TT-GC c.400_401delinsGC p.K134A Missense 3/23 - 1
1-226579903-TTC-CAT c.397_399delinsATG p.E133M Missense 3/23 - 1
1-226579904-T-G c.398A>C p.E133A Missense 3/23 - 1
1-226579905-C-T c.397G>A p.E133K Missense 3/23 - 1
1-226579906-T-A c.396A>T p.I132= Synonymous 3/23 - 1
1-226579908-T-C c.394A>G p.I132V Missense 3/23 - 1
1-226579909-C-G c.393G>C p.K131N Missense 3/23 - 1
1-226579909-CT-GA c.392_393delinsTC p.K131I Missense 3/23 - 1
1-226579910-T-C c.392A>G p.K131R Missense 3/23 - 1
1-226579910-TT-GC c.391_392delinsGC p.K131A Missense 3/23 - 1
1-226579913-T-G c.389A>C p.E130A Missense 3/23 - 1
1-226579914-C-A c.388G>T p.E130* Nonsense 3/23 - 1
1-226579914-C-G c.388G>C p.E130Q Missense 3/23 - 1
1-226579916-A-G c.386T>C p.M129T Missense 3/23 - 2
1-226579918-A-G c.384T>C p.C128= Synonymous 3/23 - 1
1-226579919-CA-GC c.382_383delinsGC p.C128A Missense 3/23 - 1
1-226579919-C-G c.383G>C p.C128S Missense 3/23 - 1
1-226579919-C-T c.383G>A p.C128Y Missense 3/23 - 4
1-226579921-C-A c.381G>T p.G127= Synonymous 3/23 - 2
1-226579921-C-G c.381G>C p.G127= Synonymous 3/23 - 2
1-226579921-C-T c.381G>A p.G127= Synonymous 3/23 - 2
1-226579922-C-A c.380G>T p.G127V Missense 3/23 - 1
1-226579922-CC-TA c.379_380delinsTA p.G127* Nonsense 3/23 - 1
1-226579922-C-G c.380G>C p.G127A Missense 3/23 - 2
1-226579923-C-G c.379G>C p.G127R Missense 3/23 - 2
1-226579923-C-T c.379G>A p.G127R Missense 3/23 - 3
1-226579924-C-G c.378G>C p.K126N Missense 3/23 - 1
1-226579925-T-A c.377A>T p.K126M Missense 3/23 - 2
1-226579925-T-C c.377A>G p.K126R Missense 3/23 - 1
1-226579927-TGCA-T c.373_375del p.C125del InFrameDeletion 3/23 - 1
1-226579928-C-T c.374G>A p.C125Y Missense 3/23 - 3
1-226579929-A-C c.373T>G p.C125G Missense 3/23 - 3
1-226579930-C-A c.372G>T p.T124= Synonymous 3/23 - 1
1-226579930-C-G c.372G>C p.T124= Synonymous 3/23 - 1
1-226579930-C-T c.372G>A p.T124= Synonymous 3/23 - 3
1-226579931-G-A c.371C>T p.T124M Missense 3/23 - 3
1-226579932-T-C c.370A>G p.T124A Missense 3/23 - 2
1-226579933-A-G c.369T>C p.S123= Synonymous 3/23 - 1
1-226579936-T-C c.366A>G p.R122= Synonymous 3/23 - 1
1-226579936-TCT-ATG c.364_366delinsCAT p.R122H Missense 3/23 - 2
1-226579937-C-A c.365G>T p.R122I Missense 3/23 - 1
1-226579937-CT-GC c.364_365delinsGC p.R122A Missense 3/23 - 1
1-226579937-CT-TG c.364_365delinsCA p.R122Q Missense 3/23 - 1
1-226579939-G-A c.363C>T p.N121= Synonymous 3/23 - 1
1-226579940-TT-GC c.361_362delinsGC p.N121A Missense 3/23 - 1
1-226579941-T-G c.361A>C p.N121H Missense 3/23 - 1
1-226579942-G-A c.360C>T p.S120= Synonymous 3/23 - 1
1-226579942-GGA-CTT c.358_360delinsAAG p.S120K Missense 3/23 - 1
1-226579944-A-C c.358T>G p.S120A Missense 3/23 - 1
1-226579945-CT-GA c.356_357delinsTC p.K119I Missense 3/23 - 1
1-226579946-T-C c.356A>G p.K119R Missense 3/23 - 4
1-226579946-T-G c.356A>C p.K119T Missense 3/23 - 2
1-226579946-TT-GC c.355_356delinsGC p.K119A Missense 3/23 - 1
1-226579947-T-C c.355A>G p.K119E Missense 3/23 - 2
1-226579948-G-A c.354C>T p.A118= Synonymous 3/23 - 1
1-226579949-G-A c.353C>T p.A118V Missense 3/23 - 4
1-226579949-G-C c.353C>G p.A118G Missense 3/23 - 4
1-226579954-C-A c.348G>T p.E116D Missense 3/23 - 1
1-226579954-C-G c.348G>C p.E116D Missense 3/23 - 1
1-226579955-CTCT-C c.345_347del p.E116del InFrameDeletion 3/23 - 1
1-226579955-T-G c.347A>C p.E116A Missense 3/23 - 1
1-226579959-C-T c.343G>A p.A115T Missense 3/23 - 2
1-226579960-TGC-ACA c.340_342delinsTGT p.A114C Missense 3/23 - 1
1-226579961-G-A c.341C>T p.A114V Missense 3/23 - 1
1-226579962-C-A c.340G>T p.A114S Missense 3/23 - 1
1-226579962-C-T c.340G>A p.A114T Missense 3/23 - 1
1-226579967-T-G c.335A>C p.D112A Missense 3/23 - 1
1-226579969-A-G c.333T>C p.G111= Synonymous 3/23 - 1
1-226579970-C-G c.332G>C p.G111A Missense 3/23 - 2
1-226579971-C-A c.331G>T p.G111C Missense 3/23 - 1
1-226579971-C-G c.331G>C p.G111R Missense 3/23 - 2
1-226579972-C-G c.330G>C p.L110= Synonymous 3/23 - 1
1-226579972-C-T c.330G>A p.L110= Synonymous 3/23 - 1
1-226579973-A-C c.329T>G p.L110R Missense 3/23 - 1
1-226579973-A-T c.329T>A p.L110Q Missense 3/23 - 2
1-226579974-G-A c.328C>T p.L110= Synonymous 3/23 - 1
1-226579974-G-C c.328C>G p.L110V Missense 3/23 - 1
1-226579976-GT-CA c.325_326delinsTG p.T109C Missense 3/23 - 1
1-226579977-T-C c.325A>G p.T109A Missense 3/23 - 1
1-226579977-T-G c.325A>C p.T109P Missense 3/23 - 1
1-226579978-C-T c.324G>A p.K108= Synonymous 3/23 - 1
1-226579979-T-C c.323A>G p.K108R Missense 3/23 - 1
1-226579982-T-C c.320A>G p.E107G Missense 3/23 - 1
1-226579983-C-A c.319G>T p.E107* Nonsense 3/23 - 1
1-226579985-G-A c.317C>T p.A106V Missense 3/23 - 2
1-226579985-G-C c.317C>G p.A106G Missense 3/23 - 1
1-226579986-C-G c.316G>C p.A106P Missense 3/23 - 1
1-226579986-C-T c.316G>A p.A106T Missense 3/23 - 1
1-226579987-C-T c.315G>A p.K105= Synonymous 3/23 - 1
1-226579988-T-C c.314A>G p.K105R Missense 3/23 - 2
1-226579989-T-C c.313A>G p.K105E Missense 3/23 - 3
1-226579990-G-C c.312C>G p.S104R Missense 3/23 - 5
1-226579990-G-T c.312C>A p.S104R Missense 3/23 - 7
1-226579992-T-G c.310A>C p.S104R Missense 3/23 - 5
1-226579991-C-T c.311G>A p.S104N Missense 3/23 - 1
1-226579991-CT-AA c.310_311delinsTT p.S104F Missense 3/23 - 1
1-226579995-C-A c.307G>T p.G103C Missense 3/23 - 3
1-226579995-C-T c.307G>A p.G103S Missense 3/23 - 1
1-226579997-A-T c.305T>A p.I102N Missense 3/23 - 1
1-226579998-T-C c.304A>G p.I102V Missense 3/23 - 1
1-226579999-TCC-GCT c.301_303delinsAGC p.G101S Missense 3/23 - 1
1-226580000-C-T c.302G>A p.G101E Missense 3/23 - 1
1-226580001-C-G c.301G>C p.G101R Missense 3/23 - 1
1-226580002-A-C c.300T>G p.D100E Missense 3/23 - 1
1-226580002-A-G c.300T>C p.D100= Synonymous 3/23 - 1
1-226580003-T-G c.299A>C p.D100A Missense 3/23 - 1
1-226580004-C-T c.298G>A p.D100N Missense 3/23 - 2
1-226580005-C-A c.297G>T p.Q99H Missense 3/23 - 1
1-226580005-C-G c.297G>C p.Q99H Missense 3/23 - 1
1-226580006-T-A c.296A>T p.Q99L Missense 3/23 - 4
1-226580006-T-C c.296A>G p.Q99R Missense 3/23 - 1
1-226580008-G-A c.294C>T p.G98= Synonymous 3/23 - 1
1-226580008-G-C c.294C>G p.G98= Synonymous 3/23 - 1
1-226580008-G-T c.294C>A p.G98= Synonymous 3/23 - 1
1-226580010-C-T c.292G>A p.G98S Missense 3/23 - 2
1-226580011-T-A c.291A>T p.K97N Missense 3/23 - 1
1-226580011-T-G c.291A>C p.K97N Missense 3/23 - 1
1-226580011-TT-CA c.290_291delinsTG p.K97M Missense 3/23 - 2
1-226580012-T-C c.290A>G p.K97R Missense 3/23 - 3
1-226580014-G-A c.288C>T p.G96= Synonymous 3/23 - 2
1-226580021-G-A c.287-6C>T - IntronicSNV - 2/22 12
1-226580021-G-T c.287-6C>A - IntronicSNV - 2/22 12
1-226580053-G-T c.287-38C>A - IntronicSNV - 2/22 1
1-226580093-C-T c.287-78G>A - IntronicSNV - 2/22 8
1-226580187-T-C c.287-172A>G - IntronicSNV - 2/22 4
1-226580387-T-G c.287-372A>C - IntronicSNV - 2/22 2
1-226580554-T-C c.287-539A>G - IntronicSNV - 2/22 1
1-226580772-T-C c.287-757A>G - IntronicSNV - 2/22 1
1-226580953-C-G c.287-938G>C - IntronicSNV - 2/22 1
1-226581074-T-C c.287-1059A>G - IntronicSNV - 2/22 1
1-226583007-G-C c.287-2992C>G - IntronicSNV - 2/22 1
1-226583142-A-G c.287-3127T>C - IntronicSNV - 2/22 2
1-226583483-C-T c.287-3468G>A - IntronicSNV - 2/22 2
1-226583972-G-A c.287-3957C>T - IntronicSNV - 2/22 1
1-226583972-G-T c.287-3957C>A - IntronicSNV - 2/22 1
1-226585280-A-G c.286+4635T>C - IntronicSNV - 2/22 1
1-226585303-T-C c.286+4612A>G - IntronicSNV - 2/22 1
1-226585516-C-A c.286+4399G>T - IntronicSNV - 2/22 1
1-226585516-C-T c.286+4399G>A - IntronicSNV - 2/22 1
1-226586920-C-T c.286+2995G>A - IntronicSNV - 2/22 1
1-226587442-A-G c.286+2473T>C - IntronicSNV - 2/22 2
1-226588041-T-C c.286+1874A>G - IntronicSNV - 2/22 1
1-226589396-C-T c.286+519G>A - IntronicSNV - 2/22 1
1-226589709-C-A c.286+206G>T - IntronicSNV - 2/22 10
1-226589709-C-T c.286+206G>A - IntronicSNV - 2/22 13
1-226589833-T-A c.286+82A>T - IntronicSNV - 2/22 14
1-226589833-T-C c.286+82A>G - IntronicSNV - 2/22 17
1-226589882-C-A c.286+33G>T - IntronicSNV - 2/22 1
1-226589893-T-C c.286+22A>G - IntronicSNV - 2/22 1
1-226589907-G-A c.286+8C>T - IntronicSNV - 2/22 1
1-226589916-T-A c.285A>T p.T95= Synonymous 2/23 - 1
1-226589917-G-A c.284C>T p.T95I Missense 2/23 - 4
1-226589919-C-A c.282G>T p.V94= Synonymous 2/23 - 1
1-226589920-A-G c.281T>C p.V94A Missense 2/23 - 1
1-226589921-C-T c.280G>A p.V94M Missense 2/23 - 1
1-226589922-TCC-ACA c.277_279delinsTGT p.G93C Missense 2/23 - 2
1-226589923-C-G c.278G>C p.G93A Missense 2/23 - 94
1-226589924-C-T c.277G>A p.G93R Missense 2/23 - 2
1-226589926-C-T c.275G>A p.G92E Missense 2/23 - 5
1-226589927-C-T c.274G>A p.G92R Missense 2/23 - 1
1-226589928-AGC-TTG c.271_273delinsCAA p.A91Q Missense 2/23 - 2
1-226589929-G-A c.272C>T p.A91V Missense 2/23 - 1
1-226589929-GC-CA c.271_272delinsTG p.A91C Missense 2/23 - 1
1-226589929-G-T c.272C>A p.A91D Missense 2/23 - 1
1-226589931-TTC-ACA c.268_270delinsTGT p.E90C Missense 2/23 - 1
1-226589932-T-G c.269A>C p.E90A Missense 2/23 - 2
1-226589933-C-T c.268G>A p.E90K Missense 2/23 - 4
1-226589934-C-A c.267G>T p.A89= Synonymous 2/23 - 1
1-226589934-C-G c.267G>C p.A89= Synonymous 2/23 - 1
1-226589934-CGC-AAA c.265_267delinsTTT p.A89F Missense 2/23 - 1
1-226589934-CGC-ACA c.265_267delinsTGT p.A89C Missense 2/23 - 1
1-226589934-CG-GT c.266_267delinsAC p.A89D Missense 2/23 - 1
1-226589934-C-T c.267G>A p.A89= Synonymous 2/23 - 2
1-226589935-G-A c.266C>T p.A89V Missense 2/23 - 1
1-226589935-G-T c.266C>A p.A89E Missense 2/23 - 1
1-226589936-C-T c.265G>A p.A89T Missense 2/23 - 1
1-226589937-T-C c.264A>G p.T88= Synonymous 2/23 - 1
1-226589940-C-A c.261G>T p.K87N Missense 2/23 - 1
1-226589940-C-G c.261G>C p.K87N Missense 2/23 - 1
1-226589940-CTT-ATG c.259_261delinsCAT p.K87H Missense 2/23 - 1
1-226589940-CTT-GTC c.259_261delinsGAC p.K87D Missense 2/23 - 1
1-226589941-T-C c.260A>G p.K87R Missense 2/23 - 1
1-226589941-TT-AG c.259_260delinsCT p.K87L Missense 2/23 - 1
1-226589941-TT-GC c.259_260delinsGC p.K87A Missense 2/23 - 1
1-226589942-T-C c.259A>G p.K87E Missense 2/23 - 2
1-226589942-T-G c.259A>C p.K87Q Missense 2/23 - 1
1-226589943-C-T c.258G>A p.K86= Synonymous 2/23 - 1
1-226589948-C-T c.253G>A p.V85I Missense 2/23 - 1
1-226589949-T-C c.252A>G p.K84= Synonymous 2/23 - 1
1-226589950-T-C c.251A>G p.K84R Missense 2/23 - 1
1-226589950-TT-GC c.250_251delinsGC p.K84A Missense 2/23 - 1
1-226589951-T-C c.250A>G p.K84E Missense 2/23 - 1
1-226589952-C-A c.249G>T p.Q83H Missense 2/23 - 2
1-226589952-C-G c.249G>C p.Q83H Missense 2/23 - 2
1-226589952-C-T c.249G>A p.Q83= Synonymous 2/23 - 2
1-226589953-TG-GC c.247_248delinsGC p.Q83A Missense 2/23 - 2
1-226589954-G-A c.247C>T p.Q83* Nonsense 2/23 - 2
1-226589954-G-C c.247C>G p.Q83E Missense 2/23 - 1
1-226589954-G-T c.247C>A p.Q83K Missense 2/23 - 1
1-226589957-G-T c.244C>A p.Q82K Missense 2/23 - 2
1-226589958-G-A c.243C>T p.D81= Synonymous 2/23 - 30
1-226589958-G-C c.243C>G p.D81E Missense 2/23 - 8
1-226589958-G-T c.243C>A p.D81E Missense 2/23 - 1
1-226589959-T-C c.242A>G p.D81G Missense 2/23 - 4
1-226589959-T-G c.242A>C p.D81A Missense 2/23 - 1
1-226589960-C-T c.241G>A p.D81N Missense 2/23 - 2
1-226589961-A-G c.240T>C p.D80= Synonymous 2/23 - 1
1-226589962-TC-AA c.238_239delinsTT p.D80F Missense 2/23 - 1
1-226589962-T-G c.239A>C p.D80A Missense 2/23 - 1
1-226589963-C-T c.238G>A p.D80N Missense 2/23 - 1
1-226589965-C-A c.236G>T p.W79L Missense 2/23 - 3
1-226589965-CA-GC c.235_236delinsGC p.W79A Missense 2/23 - 2
1-226589967-CC-AT c.233_234delinsAT p.R78H Missense 2/23 - 1
1-226589968-CG-GC c.232_233delinsGC p.R78A Missense 2/23 - 1
1-226589968-C-T c.233G>A p.R78Q Missense 2/23 - 3
1-226589969-G-A c.232C>T p.R78W Missense 2/23 - 1
1-226589972-G-T c.229C>A p.L77I Missense 2/23 - 1
1-226589974-T-G c.227A>C p.E76A Missense 2/23 - 1
1-226589975-C-T c.226G>A p.E76K Missense 2/23 - 2
1-226589977-G-A c.224C>T p.S75F Missense 2/23 - 1
1-226589977-GA-CC c.223_224delinsGG p.S75G Missense 2/23 - 1
1-226589979-G-A c.222C>T p.F74= Synonymous 2/23 - 2
1-226589979-G-C c.222C>G p.F74L Missense 2/23 - 1
1-226589979-G-T c.222C>A p.F74L Missense 2/23 - 1
1-226589981-A-G c.220T>C p.F74L Missense 2/23 - 1
1-226589983-C-T c.218G>A p.G73E Missense 2/23 - 1
1-226589985-A-G c.216T>C p.D72= Synonymous 2/23 - 1
1-226589986-TC-CA c.214_215delinsTG p.D72C Missense 2/23 - 1
1-226589986-TC-CT c.214_215delinsAG p.D72S Missense 2/23 - 1
1-226589986-T-G c.215A>C p.D72A Missense 2/23 - 1
1-226589987-C-T c.214G>A p.D72N Missense 2/23 - 3
1-226589989-A-G c.212T>C p.V71A Missense 2/23 - 1
1-226589991-C-T c.210G>A p.E70= Synonymous 2/23 - 1
1-226589992-T-A c.209A>T p.E70V Missense 2/23 - 1
1-226589992-T-G c.209A>C p.E70A Missense 2/23 - 1
1-226589993-C-A c.208G>T p.E70* Nonsense 2/23 - 1
1-226589994-AA-CT c.206_207delinsAG p.V69E Missense 2/23 - 1
1-226589996-C-G c.205G>C p.V69L Missense 2/23 - 1
1-226589996-C-T c.205G>A p.V69I Missense 2/23 - 5
1-226589997-G-T c.204C>A p.D68E Missense 2/23 - 1
1-226589998-T-G c.203A>C p.D68A Missense 2/23 - 1
1-226589999-C-G c.202G>C p.D68H Missense 2/23 - 2
1-226590001-G-A c.200C>T p.P67L Missense 2/23 - 1
1-226590002-G-A c.199C>T p.P67S Missense 2/23 - 1
1-226590002-G-T c.199C>A p.P67T Missense 2/23 - 1
1-226590003-G-A c.198C>T p.H66= Synonymous 2/23 - 1
1-226590003-G-C c.198C>G p.H66Q Missense 2/23 - 1
1-226590003-G-T c.198C>A p.H66Q Missense 2/23 - 1
1-226590005-G-A c.196C>T p.H66Y Missense 2/23 - 1
1-226590005-G-T c.196C>A p.H66N Missense 2/23 - 1
1-226590006-C-T c.195G>A p.R65= Synonymous 2/23 - 2
1-226590007-C-T c.194G>A p.R65Q Missense 2/23 - 1
1-226590006-C-A c.195G>T p.R65= Synonymous 2/23 - 1
1-226590006-C-G c.195G>C p.R65= Synonymous 2/23 - 1
1-226590008-G-A c.193C>T p.R65W Missense 2/23 - 3
1-226590008-G-T c.193C>A p.R65= Synonymous 2/23 - 1
1-226590009-G-C c.192C>G p.I64M Missense 2/23 - 2
1-226590010-A-G c.191T>C p.I64T Missense 2/23 - 2
1-226590011-T-C c.190A>G p.I64V Missense 2/23 - 7
1-226590013-G-A c.188C>T p.S63F Missense 2/23 - 1
1-226590013-GA-AG c.187_188delinsCT p.S63L Missense 2/23 - 1
1-226590013-GA-TC c.187_188inv p.S63D Missense 2/23 - 2
1-226590013-G-C c.188C>G p.S63C Missense 2/23 - 2
1-226590014-A-C c.187T>G p.S63A Missense 2/23 - 2
1-226590014-A-G c.187T>C p.S63P Missense 2/23 - 1
1-226590015-G-C c.186C>G p.H62Q Missense 2/23 - 1
1-226590018-G-A c.183C>T p.G61= Synonymous 2/23 - 1
1-226590018-G-C c.183C>G p.G61= Synonymous 2/23 - 1
1-226590018-GCC-CTT c.181_183delinsAAG p.G61K Missense 2/23 - 1
1-226590018-G-T c.183C>A p.G61= Synonymous 2/23 - 2
1-226590019-CC-GG c.181_182inv p.G61P Missense 2/23 - 1
1-226590019-CC-TA c.181_182delinsTA p.G61Y Missense 2/23 - 1
1-226590019-CC-TG c.181_182delinsCA p.G61H Missense 2/23 - 2
1-226590019-C-G c.182G>C p.G61A Missense 2/23 - 1
1-226590019-C-T c.182G>A p.G61D Missense 2/23 - 1
1-226590022-A-G c.179T>C p.V60A Missense 2/23 - 1
1-226590023-C-T c.178G>A p.V60M Missense 2/23 - 1
1-226590024-C-A c.177G>T p.K59N Missense 2/23 - 1
1-226590025-T-C c.176A>G p.K59R Missense 2/23 - 4
1-226590025-TT-GC c.175_176delinsGC p.K59A Missense 2/23 - 1
1-226590027-C-A c.174G>T p.W58C Missense 2/23 - 1
1-226590027-C-T c.174G>A p.W58* Nonsense 2/23 - 1
1-226590028-C-T c.173G>A p.W58* Nonsense 2/23 - 1
1-226590029-A-G c.172T>C p.W58R Missense 2/23 - 3
1-226590029-A-T c.172T>A p.W58R Missense 2/23 - 1
1-226590030-G-A c.171C>T p.F57= Synonymous 2/23 - 1
1-226590033-G-A c.168C>T p.C56= Synonymous 2/23 - 3
1-226590033-G-T c.168C>A p.C56* Nonsense 2/23 - 2
1-226590034-C-A c.167G>T p.C56F Missense 2/23 - 1
1-226590034-CA-GC c.166_167delinsGC p.C56A Missense 2/23 - 1
1-226590034-CA-TC c.166_167delinsGA p.C56D Missense 2/23 - 2
1-226590034-CA-TG c.166_167inv p.C56H Missense 2/23 - 1
1-226590036-G-A c.165C>T p.S55= Synonymous 2/23 - 1
1-226590036-G-C c.165C>G p.S55= Synonymous 2/23 - 1
1-226590036-G-T c.165C>A p.S55= Synonymous 2/23 - 1
1-226590037-G-T c.164C>A p.S55Y Missense 2/23 - 1
1-226590039-G-A c.162C>T p.F54= Synonymous 2/23 - 3
1-226590040-A-C c.161T>G p.F54C Missense 2/23 - 2
1-226590040-A-T c.161T>A p.F54Y Missense 2/23 - 1
1-226590039-G-C c.162C>G p.F54L Missense 2/23 - 5
1-226590039-G-T c.162C>A p.F54L Missense 2/23 - 2
1-226590041-A-G c.160T>C p.F54L Missense 2/23 - 2
1-226590042-G-A c.159C>T p.H53= Synonymous 2/23 - 1
1-226590044-G-A c.157C>T p.H53Y Missense 2/23 - 1
1-226590045-G-C c.156C>G p.Y52* Nonsense 2/23 - 1
1-226590045-G-T c.156C>A p.Y52* Nonsense 2/23 - 1
1-226590047-A-T c.154T>A p.Y52N Missense 2/23 - 1
1-226590049-CA-GC c.151_152delinsGC p.W51A Missense 2/23 - 1
1-226590049-C-T c.152G>A p.W51* Nonsense 2/23 - 1
1-226590051-G-C c.150C>G p.H50Q Missense 2/23 - 3
1-226590051-G-T c.150C>A p.H50Q Missense 2/23 - 3
1-226590052-T-G c.149A>C p.H50P Missense 2/23 - 1
1-226590055-G-A c.146C>T p.P49L Missense 2/23 - 1
1-226590057-GGAC-G c.142_144del p.V48del InFrameDeletion 2/23 - 1
1-226590058-A-G c.143T>C p.V48A Missense 2/23 - 3
1-226590061-T-C c.140A>G p.K47R Missense 2/23 - 1
1-226590063-T-C c.138A>G p.G46= Synonymous 2/23 - 1
1-226590064-C-T c.137G>A p.G46E Missense 2/23 - 1
1-226590065-C-T c.136G>A p.G46R Missense 2/23 - 1
1-226590066-A-C c.135T>G p.D45E Missense 2/23 - 1
1-226590066-A-T c.135T>A p.D45E Missense 2/23 - 1
1-226590067-T-G c.134A>C p.D45A Missense 2/23 - 7
1-226590067-TCAAA-T c.130_133del p.F44Mfs*50 Frameshift 2/23 - 1
1-226590068-CAA-C c.131_132del p.F44* Frameshift 2/23 - 2
1-226590070-AA-GC c.130_131delinsGC p.F44A Missense 2/23 - 3
1-226590070-AA-TC c.130_131delinsGA p.F44D Missense 2/23 - 2
1-226590071-A-AG c.129_130insC p.F44Lfs*2 Frameshift 2/23 - 1
1-226590071-A-T c.130T>A p.F44I Missense 2/23 - 2
1-226590070-AAC-A c.129_130del p.M43Ifs*2 Frameshift 2/23 - 1
1-226590072-AC-A c.129del p.M43Ifs*52 Frameshift 2/23 - 1
1-226590072-ACAT-A c.127_129del p.M43del InFrameDeletion 2/23 - 1
1-226590072-CAT-GTC c.127_129delinsGAC p.M43D Missense 2/23 - 2
1-226590072-C-T c.129G>A p.M43I Missense 2/23 - 1
1-226590073-A-G c.128T>C p.M43T Missense 2/23 - 1
1-226590073-AT-GC c.127_128delinsGC p.M43A Missense 2/23 - 1
1-226590074-T-C c.127A>G p.M43V Missense 2/23 - 1
1-226590076-G-A c.125C>T p.P42L Missense 2/23 - 1
1-226590076-GG-CC c.124_125inv p.P42G Missense 2/23 - 1
1-226590077-G-A c.124C>T p.P42S Missense 2/23 - 1
1-226590078-CGA-GAT c.121_123delinsATC p.S41I Missense 2/23 - 1
1-226590079-G-A c.122C>T p.S41L Missense 2/23 - 3
1-226590079-GA-TC c.121_122inv p.S41E Missense 2/23 - 1
1-226590079-G-GA c.121dup p.S41Ffs*5 SpliceAcceptorInsertion - - 1
1-226590080-A-C c.121T>G p.S41A Missense 2/23 - 2
1-226590413-G-A c.121-333C>T - IntronicSNV - 1/22 1
1-226591056-T-C c.121-976A>G - IntronicSNV - 1/22 1
1-226592278-G-A c.121-2198C>T - IntronicSNV - 1/22 1
1-226592745-G-A c.121-2665C>T - IntronicSNV - 1/22 1
1-226592854-T-C c.120+2657A>G - IntronicSNV - 1/22 1
1-226593000-AT-A c.120+2510del - IntronicDeletion - 1/22 1
1-226593141-A-C c.120+2370T>G - IntronicSNV - 1/22 1
1-226593268-A-C c.120+2243T>G - IntronicSNV - 1/22 1
1-226593271-T-G c.120+2240A>C - IntronicSNV - 1/22 1
1-226594038-T-G c.120+1473A>C - IntronicSNV - 1/22 4
1-226594106-G-C c.120+1405C>G - IntronicSNV - 1/22 1
1-226594301-C-T c.120+1210G>A - IntronicSNV - 1/22 2
1-226594613-G-A c.120+898C>T - IntronicSNV - 1/22 1
1-226594857-C-T c.120+654G>A - IntronicSNV - 1/22 1
1-226595377-C-G c.120+134G>C - IntronicSNV - 1/22 2
1-226595389-C-A c.120+122G>T - IntronicSNV - 1/22 1
1-226595389-C-G c.120+122G>C - IntronicSNV - 1/22 2
1-226595403-A-AGGGCCC c.120+102_120+107dup - IntronicInsertion - 1/22 3
1-226595506-C-T c.120+5G>A - IntronicSNV - 1/22 1
1-226595510-C-T c.120+1G>A - IntronicSNV - 1/22 1
1-226595512-T-A c.119A>T p.Q40L Missense 1/23 - 1
1-226595512-T-G c.119A>C p.Q40P Missense 1/23 - 1
1-226595512-TG-AC c.118_119delinsGT p.Q40V Missense 1/23 - 1
1-226595512-TG-GC c.118_119delinsGC p.Q40A Missense 1/23 - 2
1-226595513-G-A c.118C>T p.Q40* Nonsense 1/23 - 1
1-226595516-C-T c.115G>A p.V39M Missense 1/23 - 3
1-226595517-C-T c.114G>A p.M38I Missense 1/23 - 1
1-226595519-T-A c.112A>T p.M38L Missense 1/23 - 1
1-226595520-G-T c.111C>A p.I37= Synonymous 1/23 - 1
1-226595522-T-C c.109A>G p.I37V Missense 1/23 - 1
1-226595523-G-A c.108C>T p.A36= Synonymous 1/23 - 2
1-226595523-G-C c.108C>G p.A36= Synonymous 1/23 - 2
1-226595523-GGC-CTT c.106_108delinsAAG p.A36K Missense 1/23 - 1
1-226595523-G-T c.108C>A p.A36= Synonymous 1/23 - 2
1-226595524-G-C c.107C>G p.A36G Missense 1/23 - 2
1-226595524-GC-CG c.106_107delinsCG p.A36R Missense 1/23 - 2
1-226595524-G-T c.107C>A p.A36D Missense 1/23 - 1
1-226595527-AT-GC c.103_104delinsGC p.M35A Missense 1/23 - 4
1-226595528-T-C c.103A>G p.M35V Missense 1/23 - 2
1-226595530-CG-GC c.100_101delinsGC p.R34A Missense 1/23 - 3
1-226595530-CG-TC c.100_101delinsGA p.R34E Missense 1/23 - 1
1-226595530-C-T c.101G>A p.R34Q Missense 1/23 - 2
1-226595529-C-A c.102G>T p.R34= Synonymous 1/23 - 3
1-226595529-C-G c.102G>C p.R34= Synonymous 1/23 - 3
1-226595529-C-T c.102G>A p.R34= Synonymous 1/23 - 3
1-226595531-G-A c.100C>T p.R34W Missense 1/23 - 1
1-226595531-G-T c.100C>A p.R34= Synonymous 1/23 - 3
1-226595533-AG-GC c.97_98delinsGC p.L33A Missense 1/23 - 2
1-226595533-A-T c.98T>A p.L33H Missense 1/23 - 1
1-226595535-C-A c.96G>T p.S32= Synonymous 1/23 - 1
1-226595535-C-G c.96G>C p.S32= Synonymous 1/23 - 1
1-226595535-C-T c.96G>A p.S32= Synonymous 1/23 - 1
1-226595536-GA-CT c.94_95delinsAG p.S32R Missense 1/23 - 1
1-226595536-G-C c.95C>G p.S32W Missense 1/23 - 1
1-226595537-A-C c.94T>G p.S32A Missense 1/23 - 13
1-226595538-G-A c.93C>T p.D31= Synonymous 1/23 - 1
1-226595538-G-C c.93C>G p.D31E Missense 1/23 - 1
1-226595538-G-T c.93C>A p.D31E Missense 1/23 - 1
1-226595539-TC-CA c.91_92delinsTG p.D31C Missense 1/23 - 1
1-226595539-T-G c.92A>C p.D31A Missense 1/23 - 2
1-226595540-C-T c.91G>A p.D31N Missense 1/23 - 4
1-226595541-C-A c.90G>T p.K30N Missense 1/23 - 1
1-226595541-C-G c.90G>C p.K30N Missense 1/23 - 1
1-226595541-C-T c.90G>A p.K30= Synonymous 1/23 - 1
1-226595542-TT-GC c.88_89delinsGC p.K30A Missense 1/23 - 5
1-226595544-G-A c.87C>T p.P29= Synonymous 1/23 - 1
1-226595545-G-A c.86C>T p.P29L Missense 1/23 - 1
1-226595546-G-A c.85C>T p.P29S Missense 1/23 - 2
1-226595546-G-C c.85C>G p.P29A Missense 1/23 - 1
1-226595546-G-T c.85C>A p.P29T Missense 1/23 - 1
1-226595547-G-A c.84C>T p.I28= Synonymous 1/23 - 1
1-226595547-G-C c.84C>G p.I28M Missense 1/23 - 1
1-226595547-G-T c.84C>A p.I28= Synonymous 1/23 - 1
1-226595548-A-G c.83T>C p.I28T Missense 1/23 - 1
1-226595549-T-C c.82A>G p.I28V Missense 1/23 - 1
1-226595550-G-C c.81C>G p.S27R Missense 1/23 - 1
1-226595550-GCT-CTC c.79_81delinsGAG p.S27E Missense 1/23 - 1
1-226595550-G-T c.81C>A p.S27R Missense 1/23 - 1
1-226595552-T-G c.79A>C p.S27R Missense 1/23 - 2
1-226595551-C-A c.80G>T p.S27I Missense 1/23 - 1
1-226595551-C-T c.80G>A p.S27N Missense 1/23 - 1
1-226595551-CT-AA c.79_80delinsTT p.S27F Missense 1/23 - 1
1-226595551-CT-AG c.79_80inv p.S27L Missense 1/23 - 1
1-226595551-CT-GC c.79_80delinsGC p.S27A Missense 1/23 - 12
1-226595551-CT-TC c.79_80delinsGA p.S27D Missense 1/23 - 1
1-226595552-T-A c.79A>T p.S27C Missense 1/23 - 2
1-226595554-T-G c.77A>C p.E26A Missense 1/23 - 1
1-226595555-C-A c.76G>T p.E26* Nonsense 1/23 - 1
1-226595555-C-G c.76G>C p.E26Q Missense 1/23 - 5
1-226595555-C-T c.76G>A p.E26K Missense 1/23 - 1
1-226595556-G-A c.75C>T p.S25= Synonymous 1/23 - 1
1-226595557-C-T c.74G>A p.S25N Missense 1/23 - 1
1-226595557-CT-GC c.73_74delinsGC p.S25A Missense 1/23 - 9
1-226595559-G-A c.72C>T p.C24= Synonymous 1/23 - 2
1-226595559-GCA-CTC c.70_72delinsGAG p.C24E Missense 1/23 - 1
1-226595560-CA-TG c.70_71inv p.C24H Missense 1/23 - 4
1-226595560-C-T c.71G>A p.C24Y Missense 1/23 - 1
1-226595561-A-C c.70T>G p.C24G Missense 1/23 - 1
1-226595561-A-G c.70T>C p.C24R Missense 1/23 - 1
1-226595561-ATT-A c.68_69del p.K23Mfs*22 Frameshift 1/23 - 1
1-226595563-T-C c.68A>G p.K23R Missense 1/23 - 1
1-226595563-TT-AG c.67_68delinsCT p.K23L Missense 1/23 - 1
1-226595563-TT-GC c.67_68delinsGC p.K23A Missense 1/23 - 3
1-226595564-T-G c.67A>C p.K23Q Missense 1/23 - 1
1-226595565-C-A c.66G>T p.K22N Missense 1/23 - 1
1-226595565-C-G c.66G>C p.K22N Missense 1/23 - 1
1-226595566-T-C c.65A>G p.K22R Missense 1/23 - 1
1-226595567-T-A c.64A>T p.K22* Nonsense 1/23 - 1
1-226595567-T-C c.64A>G p.K22E Missense 1/23 - 1
1-226595568-G-A c.63C>T p.C21= Synonymous 1/23 - 1
1-226595569-C-A c.62G>T p.C21F Missense 1/23 - 1
1-226595569-CA-GC c.61_62delinsGC p.C21A Missense 1/23 - 1
1-226595569-CA-TG c.61_62inv p.C21H Missense 1/23 - 2
1-226595569-C-G c.62G>C p.C21S Missense 1/23 - 2
1-226595570-A-C c.61T>G p.C21G Missense 1/23 - 6
1-226595570-A-T c.61T>A p.C21S Missense 1/23 - 2
1-226595571-AGA-CTC c.58_60delinsGAG p.S20E Missense 1/23 - 2
1-226595571-AG-TT c.59_60delinsAA p.S20* Nonsense 1/23 - 1
1-226595572-G-A c.59C>T p.S20F Missense 1/23 - 2
1-226595572-GA-CC c.58_59delinsGG p.S20G Missense 1/23 - 2
1-226595572-GA-TC c.58_59inv p.S20D Missense 1/23 - 2
1-226595572-G-C c.59C>G p.S20C Missense 1/23 - 4
1-226595573-A-C c.58T>G p.S20A Missense 1/23 - 13
1-226595574-G-A c.57C>T p.A19= Synonymous 1/23 - 3
1-226595574-G-C c.57C>G p.A19= Synonymous 1/23 - 3
1-226595574-GG-CT c.56_57delinsAG p.A19E Missense 1/23 - 2
1-226595574-G-T c.57C>A p.A19= Synonymous 1/23 - 4
1-226595575-G-A c.56C>T p.A19V Missense 1/23 - 1
1-226595575-GC-AA c.55_56delinsTT p.A19F Missense 1/23 - 3
1-226595575-GC-CA c.55_56delinsTG p.A19C Missense 1/23 - 1
1-226595575-G-T c.56C>A p.A19D Missense 1/23 - 3
1-226595576-C-G c.55G>C p.A19P Missense 1/23 - 2
1-226595576-C-T c.55G>A p.A19T Missense 1/23 - 1
1-226595577-GCG-CAT c.52_54delinsATG p.R18M Missense 1/23 - 1
1-226595578-C-A c.53G>T p.R18L Missense 1/23 - 1
1-226595578-CG-GC c.52_53delinsGC p.R18A Missense 1/23 - 2
1-226595578-C-T c.53G>A p.R18H Missense 1/23 - 2
1-226595579-G-T c.52C>A p.R18S Missense 1/23 - 1
1-226595580-CC-GT c.50_51delinsAC p.G17D Missense 1/23 - 2
1-226595581-C-A c.50G>T p.G17V Missense 1/23 - 1
1-226595581-CC-GT c.49_50delinsAC p.G17T Missense 1/23 - 1
1-226595581-CC-TA c.49_50delinsTA p.G17* Nonsense 1/23 - 1
1-226595581-C-G c.50G>C p.G17A Missense 1/23 - 3
1-226595581-C-T c.50G>A p.G17E Missense 1/23 - 1
1-226595582-C-G c.49G>C p.G17R Missense 1/23 - 1
1-226595582-C-T c.49G>A p.G17R Missense 1/23 - 1
1-226595583-GC-CT c.47_48delinsAG p.S16K Missense 1/23 - 1
1-226595583-GCT-CTC c.46_48delinsGAG p.S16E Missense 1/23 - 6
1-226595583-GCT-TCA c.46_48delinsTGA p.S16* Nonsense 1/23 - 1
1-226595584-C-T c.47G>A p.S16N Missense 1/23 - 1
1-226595584-CT-AA c.46_47delinsTT p.S16F Missense 1/23 - 2
1-226595584-CT-AC c.46_47delinsGT p.S16V Missense 1/23 - 1
1-226595584-CT-GC c.46_47delinsGC p.S16A Missense 1/23 - 54
1-226595584-CT-TC c.46_47delinsGA p.S16D Missense 1/23 - 14
1-226595584-CT-TG c.46_47delinsCA p.S16H Missense 1/23 - 5
1-226595585-T-A c.46A>T p.S16C Missense 1/23 - 19
1-226595585-T-C c.46A>G p.S16G Missense 1/23 - 3
1-226595586-C-T c.45G>A p.K15= Synonymous 1/23 - 1
1-226595587-T-C c.44A>G p.K15R Missense 1/23 - 3
1-226595587-TT-GC c.43_44delinsGC p.K15A Missense 1/23 - 1
1-226595588-T-A c.43A>T p.K15* Nonsense 1/23 - 1
1-226595588-T-C c.43A>G p.K15E Missense 1/23 - 2
1-226595589-GGC-CCA c.40_42delinsTGG p.A14W Missense 1/23 - 2
1-226595590-G-A c.41C>T p.A14V Missense 1/23 - 1
1-226595590-G-C c.41C>G p.A14G Missense 1/23 - 1
1-226595590-GC-AA c.40_41delinsTT p.A14F Missense 1/23 - 1
1-226595591-C-A c.40G>T p.A14S Missense 1/23 - 2
1-226595592-G-C c.39C>G p.Y13* Nonsense 1/23 - 1
1-226595592-G-T c.39C>A p.Y13* Nonsense 1/23 - 1
1-226595593-T-C c.38A>G p.Y13C Missense 1/23 - 1
1-226595594-A-G c.37T>C p.Y13H Missense 1/23 - 1
1-226595595-C-T c.36G>A p.E12= Synonymous 1/23 - 2
1-226595595-CTC-ACA c.34_36delinsTGT p.E12C Missense 1/23 - 1
1-226595595-CTC-ATG c.34_36delinsCAT p.E12H Missense 1/23 - 1
1-226595596-T-A c.35A>T p.E12V Missense 1/23 - 1
1-226595596-T-C c.35A>G p.E12G Missense 1/23 - 1
1-226595596-T-G c.35A>C p.E12A Missense 1/23 - 2
1-226595597-C-A c.34G>T p.E12* Nonsense 1/23 - 1
1-226595597-C-T c.34G>A p.E12K Missense 1/23 - 1
1-226595599-A-G c.32T>C p.V11A Missense 1/23 - 1
1-226595601-TCG-AAA c.28_30delinsTTT p.R10F Missense 1/23 - 1
1-226595601-TCG-ACA c.28_30delinsTGT p.R10C Missense 1/23 - 1
1-226595602-CG-GC c.28_29delinsGC p.R10A Missense 1/23 - 3
1-226595602-CG-TT c.28_29delinsAA p.R10K Missense 1/23 - 1
1-226595602-C-T c.29G>A p.R10Q Missense 1/23 - 1
1-226595601-T-A c.30A>T p.R10= Synonymous 1/23 - 8
1-226595601-T-C c.30A>G p.R10= Synonymous 1/23 - 8
1-226595601-T-G c.30A>C p.R10= Synonymous 1/23 - 8
1-226595603-G-C c.28C>G p.R10G Missense 1/23 - 2
1-226595603-G-T c.28C>A p.R10= Synonymous 1/23 - 8
1-226595605-T-C c.26A>G p.Y9C Missense 1/23 - 1
1-226595607-G-A c.24C>T p.L8= Synonymous 1/23 - 1
1-226595607-G-C c.24C>G p.L8= Synonymous 1/23 - 1
1-226595607-G-T c.24C>A p.L8= Synonymous 1/23 - 1
1-226595611-T-C c.20A>G p.K7R Missense 1/23 - 1
1-226595613-A-G c.18T>C p.D6= Synonymous 1/23 - 1
1-226595613-ATC-TTA c.16_18delinsTAA p.D6* Nonsense 1/23 - 1
1-226595614-T-A c.17A>T p.D6V Missense 1/23 - 1
1-226595615-C-G c.16G>C p.D6H Missense 1/23 - 1
1-226595617-G-A c.14C>T p.S5L Missense 1/23 - 1
1-226595617-G-C c.14C>G p.S5W Missense 1/23 - 8
1-226595620-G-A c.11C>T p.S4F Missense 1/23 - 2
1-226595620-G-C c.11C>G p.S4C Missense 1/23 - 1
1-226595622-C-A c.9G>T p.E3D Missense 1/23 - 1
1-226595622-C-T c.9G>A p.E3= Synonymous 1/23 - 2
1-226595623-T-C c.8A>G p.E3G Missense 1/23 - 1
1-226595624-C-G c.7G>C p.E3Q Missense 1/23 - 1
1-226595624-C-T c.7G>A p.E3K Missense 1/23 - 1
1-226595625-C-A c.6G>T p.A2= Synonymous 1/23 - 2
1-226595625-C-G c.6G>C p.A2= Synonymous 1/23 - 2
1-226595625-C-T c.6G>A p.A2= Synonymous 1/23 - 2
1-226595623-TCCG-T c.5_7del p.A2? InFrameDeletion 1/23 - 3
1-226595626-G-A c.5C>T p.A2V Missense 1/23 - 1
1-226595626-G-C c.5C>G p.A2G Missense 1/23 - 1
1-226595627-C-T c.4G>A p.A2T Missense 1/23 - 1
1-226595628-C-T c.3G>A p.M1? Missense 1/23 - 1
1-226595629-A-G c.2T>C p.M1? Missense 1/23 - 1
1-226595630-T-C c.1A>G p.M1? Missense 1/23 - 1
1-226595647-C-G c.-17G>C - 5-UTRSNV 1/23 - 18
1-226595647-C-T c.-17G>A - 5-UTRSNV 1/23 - 18