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 |