Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
7-87133366-T-C | c.*193A>G | - | 3-UTRSNV | 29/29 | - | 30 |
7-87133470-T-A | c.*89A>T | - | 3-UTRSNV | 29/29 | - | 8 |
7-87133623-AG-GC | c.3778_3779delinsGC | p.Leu1260Ala | Missense | 29/29 | - | 3 |
7-87133634-CGT-TGT | c.3768delinsA | p.Thr1256Thr | Missense | 29/29 | - | 1 |
7-87133635-G-T | c.3767C>A | p.Thr1256Lys | Missense | 29/29 | - | 1 |
7-87133651-C-T | c.3751G>A | p.Val1251Ile | Missense | 29/29 | - | 5 |
7-87133656-C-G | c.3746G>C | p.Gly1249Ala | Missense | 29/29 | - | 22 |
7-87133695-GT-TG | c.3706_3707delinsCA | p.Thr1236His | Missense | 29/29 | - | 5 |
7-87133725-GT-TG | c.3676_3677delinsCA | p.Thr1226His | Missense | 29/29 | - | 3 |
7-87133753-C-T | c.3649G>A | p.Ala1217Thr | Missense | 29/29 | - | 1 |
7-87133947-C-A | c.3637-182G>T | - | IntronicSNV | - | 28/28 | 1 |
7-87133993-T-A | c.3637-228A>T | - | IntronicSNV | - | 28/28 | 1 |
7-87133993-T-C | c.3637-228A>G | - | IntronicSNV | - | 28/28 | 1 |
7-87135241-G-A | c.3608C>T | p.Thr1203Met | Missense | 28/29 | - | 1 |
7-87135248-C-G | c.3601G>C | p.Glu1201Gln | Missense | 28/29 | - | 1 |
7-87135251-C-T | c.3598G>A | p.Asp1200Asn | Missense | 28/29 | - | 1 |
7-87135322-AG-TG | c.3527delinsA | p.Leu1176His | Missense | 28/29 | - | 1 |
7-87137018-C-T | c.3489+1573G>A | - | IntronicSNV | - | 27/28 | 7 |
7-87137461-G-A | c.3489+1130C>T | - | IntronicSNV | - | 27/28 | 4 |
7-87138511-G-A | c.3489+80C>T | - | IntronicSNV | - | 27/28 | 14 |
7-87138532-A-C | c.3489+59T>G | - | IntronicSNV | - | 27/28 | 9 |
7-87138532-A-G | c.3489+59T>C | - | IntronicSNV | - | 27/28 | 9 |
7-87138618-T-A | c.3462A>T | p.Ile1154Ile | Synonymous | 27/29 | - | 1 |
7-87138618-T-G | c.3462A>C | p.Ile1154Ile | Synonymous | 27/29 | - | 1 |
7-87138645-A-G | c.3435T>C | p.Ile1145Ile | Synonymous | 27/29 | - | 730 |
7-87138645-A-T | c.3435T>A | p.Ile1145Ile | Synonymous | 27/29 | - | 722 |
7-87138659-A-T | c.3421T>A | p.Ser1141Thr | Missense | 27/29 | - | 9 |
7-87138727-TG-GC | c.3352_3353delinsGC | p.Gln1118Ala | Missense | 27/29 | - | 1 |
7-87138758-A-G | c.3322T>C | p.Trp1108Arg | Missense | 27/29 | - | 6 |
7-87138760-T-G | c.3320A>C | p.Gln1107Pro | Missense | 27/29 | - | 2 |
7-87139316-A-G | c.3283-519T>C | - | IntronicSNV | - | 26/28 | 4 |
7-87140808-A-G | c.3283-2011T>C | - | IntronicSNV | - | 26/28 | 2 |
7-87141174-G-C | c.3283-2377C>G | - | IntronicSNV | - | 26/28 | 4 |
7-87141174-G-T | c.3283-2377C>A | - | IntronicSNV | - | 26/28 | 4 |
7-87141497-A-C | c.3283-2700T>G | - | IntronicSNV | - | 26/28 | 1 |
7-87141497-A-T | c.3283-2700T>A | - | IntronicSNV | - | 26/28 | 1 |
7-87141751-C-A | c.3282+2796G>T | - | IntronicSNV | - | 26/28 | 3 |
7-87141751-C-T | c.3282+2796G>A | - | IntronicSNV | - | 26/28 | 3 |
7-87141814-T-C | c.3282+2733A>G | - | IntronicSNV | - | 26/28 | 7 |
7-87143153-T-C | c.3282+1394A>G | - | IntronicSNV | - | 26/28 | 2 |
7-87143275-T-C | c.3282+1272A>G | - | IntronicSNV | - | 26/28 | 1 |
7-87143504-C-T | c.3282+1043G>A | - | IntronicSNV | - | 26/28 | 2 |
7-87144413-G-C | c.3282+134C>G | - | IntronicSNV | - | 26/28 | 4 |
7-87144566-TC-TG | c.3262delinsC | p.Asp1088His | Missense | 26/29 | - | 1 |
7-87144567-C-T | c.3262G>A | p.Asp1088Asn | Missense | 26/29 | - | 1 |
7-87144568-G-C | c.3261C>G | p.Tyr1087* | Nonsense | 26/29 | - | 1 |
7-87144568-G-T | c.3261C>A | p.Tyr1087* | Nonsense | 26/29 | - | 1 |
7-87144568-GTA-GAG | c.3259_3260delinsCT | p.Tyr1087Leu | Missense | 26/29 | - | 1 |
7-87144569-T-A | c.3260A>T | p.Tyr1087Phe | Missense | 26/29 | - | 2 |
7-87144569-TA-CG | c.3259_3260delinsCG | p.Tyr1087Arg | Missense | 26/29 | - | 1 |
7-87144569-TA-CT | c.3259_3260delinsAG | p.Tyr1087Ser | Missense | 26/29 | - | 2 |
7-87144569-TA-GC | c.3259_3260delinsGC | p.Tyr1087Ala | Missense | 26/29 | - | 3 |
7-87144569-T-C | c.3260A>G | p.Tyr1087Cys | Missense | 26/29 | - | 2 |
7-87144571-GA-AA | c.3258delinsT | p.Phe1086Phe | Nonsense | 26/29 | - | 1 |
7-87144571-GA-GG | c.3257delinsC | p.Phe1086Ser | Missense | 26/29 | - | 2 |
7-87144572-AA-CG | c.3256_3257delinsCG | p.Phe1086Arg | Missense | 26/29 | - | 2 |
7-87144572-AA-GA | c.3257delinsC | p.Phe1086Ser | Missense | 26/29 | - | 1 |
7-87144572-AA-GC | c.3256_3257delinsGC | p.Phe1086Ala | Missense | 26/29 | - | 2 |
7-87144572-A-C | c.3257T>G | p.Phe1086Cys | Missense | 26/29 | - | 5 |
7-87144572-A-T | c.3257T>A | p.Phe1086Tyr | Missense | 26/29 | - | 1 |
7-87144571-G-C | c.3258C>G | p.Phe1086Leu | Missense | 26/29 | - | 3 |
7-87144571-G-T | c.3258C>A | p.Phe1086Leu | Missense | 26/29 | - | 3 |
7-87144573-A-G | c.3256T>C | p.Phe1086Leu | Missense | 26/29 | - | 3 |
7-87144574-CCG-TGT | c.3253_3255delinsACA | p.Arg1085Thr | Missense | 26/29 | - | 1 |
7-87144602-T-A | c.3227A>T | p.Lys1076Met | Missense | 26/29 | - | 1 |
7-87144642-C-A | c.3187G>T | p.Gly1063Cys | Missense | 26/29 | - | 1 |
7-87144644-T-C | c.3185A>G | p.Lys1062Arg | Missense | 26/29 | - | 1 |
7-87144646-C-T | c.3183G>A | p.Lys1061Lys | Synonymous | 26/29 | - | 2 |
7-87144678-G-C | c.3151C>G | p.Pro1051Ala | Missense | 26/29 | - | 2 |
7-87144680-AT-TG | c.3148_3149delinsCA | p.Ile1050His | Missense | 26/29 | - | 2 |
7-87144723-T-C | c.3106A>G | p.Thr1036Ala | Missense | 26/29 | - | 1 |
7-87144816-G-A | c.3085-72C>T | - | IntronicSNV | - | 25/28 | 6 |
7-87144816-G-C | c.3085-72C>G | - | IntronicSNV | - | 25/28 | 6 |
7-87145483-G-A | c.3084+342C>T | - | IntronicSNV | - | 25/28 | 1 |
7-87145871-T-C | c.3038A>G | p.Glu1013Gly | Missense | 25/29 | - | 1 |
7-87145871-T-G | c.3038A>C | p.Glu1013Ala | Missense | 25/29 | - | 1 |
7-87145899-A-C | c.3010T>G | p.Ser1004Ala | Missense | 25/29 | - | 1 |
7-87145914-C-T | c.2995G>A | p.Ala999Thr | Missense | 25/29 | - | 1 |
7-87145928-A-C | c.2981T>G | p.Phe994Cys | Missense | 25/29 | - | 1 |
7-87145931-GA-AG | c.2977_2978delinsCT | p.Ser993Leu | Missense | 25/29 | - | 2 |
7-87145935-T-A | c.2974A>T | p.Ser992Cys | Missense | 25/29 | - | 1 |
7-87145939-TTG-TGT | c.2968_2969delinsAC | p.Gln990Thr | Missense | 25/29 | - | 1 |
7-87145940-T-C | c.2969A>G | p.Gln990Arg | Missense | 25/29 | - | 1 |
7-87145942-CCC-TGT | c.2965_2967delinsACA | p.Gly989Thr | Missense | 25/29 | - | 1 |
7-87145945-CAC-TGT | c.2962_2964delinsACA | p.Val988Thr | Missense | 25/29 | - | 1 |
7-87145949-GC-CG | c.2959_2960delinsCG | p.Ala987Arg | Missense | 25/29 | - | 1 |
7-87145951-C-A | c.2958G>T | p.Met986Ile | Missense | 25/29 | - | 1 |
7-87145951-CAT-TGT | c.2957_2958delinsCA | p.Met986Thr | Missense | 25/29 | - | 1 |
7-87145951-C-G | c.2958G>C | p.Met986Ile | Missense | 25/29 | - | 1 |
7-87145951-C-T | c.2958G>A | p.Met986Ile | Missense | 25/29 | - | 1 |
7-87145952-A-C | c.2957T>G | p.Met986Arg | Missense | 25/29 | - | 2 |
7-87145953-T-C | c.2956A>G | p.Met986Val | Missense | 25/29 | - | 1 |
7-87145955-GC-TG | c.2953_2954delinsCA | p.Ala985His | Missense | 25/29 | - | 2 |
7-87145956-C-T | c.2953G>A | p.Ala985Thr | Missense | 25/29 | - | 1 |
7-87145959-C-A | c.2950G>T | p.Gly984Cys | Missense | 25/29 | - | 3 |
7-87145961-AA-CG | c.2947_2948delinsCG | p.Phe983Arg | Missense | 25/29 | - | 1 |
7-87145961-AA-GC | c.2947_2948delinsGC | p.Phe983Ala | Missense | 25/29 | - | 1 |
7-87145960-A-C | c.2949T>G | p.Phe983Leu | Missense | 25/29 | - | 1 |
7-87145960-A-T | c.2949T>A | p.Phe983Leu | Missense | 25/29 | - | 1 |
7-87145962-A-G | c.2947T>C | p.Phe983Leu | Missense | 25/29 | - | 1 |
7-87145964-AC-CG | c.2944_2945delinsCG | p.Val982Arg | Missense | 25/29 | - | 3 |
7-87145964-AC-TG | c.2944_2945delinsCA | p.Val982His | Missense | 25/29 | - | 7 |
7-87145967-AC-CG | c.2941_2942delinsCG | p.Val981Arg | Missense | 25/29 | - | 1 |
7-87145967-AC-TG | c.2941_2942delinsCA | p.Val981His | Missense | 25/29 | - | 2 |
7-87145970-GC-TG | c.2938_2939delinsCA | p.Ala980His | Missense | 25/29 | - | 3 |
7-87145972-TG-GT | c.2936_2937delinsAC | p.Ser979Tyr | Missense | 25/29 | - | 1 |
7-87145973-GA-AG | c.2935_2936delinsCT | p.Ser979Leu | Missense | 25/29 | - | 1 |
7-87145976-AA-CG | c.2932_2933delinsCG | p.Phe978Arg | Missense | 25/29 | - | 2 |
7-87145976-AA-GC | c.2932_2933delinsGC | p.Phe978Ala | Missense | 25/29 | - | 1 |
7-87145976-A-C | c.2933T>G | p.Phe978Cys | Missense | 25/29 | - | 6 |
7-87145976-A-G | c.2933T>C | p.Phe978Ser | Missense | 25/29 | - | 1 |
7-87145976-A-T | c.2933T>A | p.Phe978Tyr | Missense | 25/29 | - | 1 |
7-87145975-A-C | c.2934T>G | p.Phe978Leu | Missense | 25/29 | - | 1 |
7-87145975-A-T | c.2934T>A | p.Phe978Leu | Missense | 25/29 | - | 1 |
7-87145977-A-G | c.2932T>C | p.Phe978Leu | Missense | 25/29 | - | 1 |
7-87145978-TAC-TGT | c.2929_2930delinsAC | p.Val977Thr | Missense | 25/29 | - | 1 |
7-87145979-AC-AG | c.2929delinsC | p.Val977Leu | Missense | 25/29 | - | 1 |
7-87148265-G-T | c.2927+377C>A | - | IntronicSNV | - | 24/28 | 3 |
7-87148328-C-T | c.2927+314G>A | - | IntronicSNV | - | 24/28 | 3 |
7-87148644-CAG-TGT | c.2923_2925delinsACA | p.Leu975Thr | Missense | 24/29 | - | 7 |
7-87148645-A-C | c.2924T>G | p.Leu975Arg | Missense | 24/29 | - | 1 |
7-87148697-G-A | c.2872C>T | p.Arg958Trp | Missense | 24/29 | - | 1 |
7-87148699-A-C | c.2870T>G | p.Phe957Cys | Missense | 24/29 | - | 1 |
7-87148701-A-G | c.2868T>C | p.Cys956Cys | Synonymous | 24/29 | - | 1 |
7-87148704-TCC-TGT | c.2863_2864delinsAC | p.Gly955Thr | Missense | 24/29 | - | 1 |
7-87148708-GC-TG | c.2860_2861delinsCA | p.Ala954His | Missense | 24/29 | - | 1 |
7-87148711-T-A | c.2858A>T | p.Tyr953Phe | Missense | 24/29 | - | 3 |
7-87148711-TA-CG | c.2857_2858delinsCG | p.Tyr953Arg | Missense | 24/29 | - | 1 |
7-87148711-TA-GC | c.2857_2858delinsGC | p.Tyr953Ala | Missense | 24/29 | - | 6 |
7-87148711-T-C | c.2858A>G | p.Tyr953Cys | Missense | 24/29 | - | 3 |
7-87148712-A-G | c.2857T>C | p.Tyr953His | Missense | 24/29 | - | 1 |
7-87148714-GA-CG | c.2854_2855delinsCG | p.Ser952Arg | Missense | 24/29 | - | 1 |
7-87148714-G-C | c.2855C>G | p.Ser952Cys | Missense | 24/29 | - | 1 |
7-87148715-A-C | c.2854T>G | p.Ser952Ala | Missense | 24/29 | - | 1 |
7-87148717-AA-GC | c.2851_2852delinsGC | p.Phe951Ala | Missense | 24/29 | - | 1 |
7-87148720-T-A | c.2849A>T | p.Tyr950Phe | Missense | 24/29 | - | 2 |
7-87148720-TA-CG | c.2848_2849delinsCG | p.Tyr950Arg | Missense | 24/29 | - | 1 |
7-87148720-TA-GC | c.2848_2849delinsGC | p.Tyr950Ala | Missense | 24/29 | - | 2 |
7-87148722-CAT-TGT | c.2846_2847delinsCA | p.Met949Thr | Missense | 24/29 | - | 2 |
7-87148723-A-C | c.2846T>G | p.Met949Arg | Missense | 24/29 | - | 1 |
7-87148723-AT-GC | c.2845_2846delinsGC | p.Met949Ala | Missense | 24/29 | - | 1 |
7-87148726-AT-GC | c.2842_2843delinsGC | p.Met948Ala | Missense | 24/29 | - | 1 |
7-87148732-T-C | c.2837A>G | p.Gln946Arg | Missense | 24/29 | - | 2 |
7-87148732-TG-GC | c.2836_2837delinsGC | p.Gln946Ala | Missense | 24/29 | - | 1 |
7-87148735-GT-TG | c.2833_2834delinsCA | p.Thr945His | Missense | 24/29 | - | 2 |
7-87148744-AA-CG | c.2824_2825delinsCG | p.Phe942Arg | Missense | 24/29 | - | 3 |
7-87148744-A-C | c.2825T>G | p.Phe942Cys | Missense | 24/29 | - | 2 |
7-87148764-TGC-TGT | c.2803delinsA | p.Ala935Thr | Missense | 24/29 | - | 1 |
7-87148938-G-A | c.2787-156C>T | - | IntronicSNV | - | 23/28 | 2 |
7-87149922-C-T | c.2786+170G>A | - | IntronicSNV | - | 23/28 | 7 |
7-87150143-T-C | c.2735A>G | p.Gln912Arg | Missense | 23/29 | - | 1 |
7-87150152-G-C | c.2726C>G | p.Ser909Cys | Missense | 23/29 | - | 4 |
7-87150155-AC-AG | c.2722delinsC | p.Val908Leu | Missense | 23/29 | - | 1 |
7-87150158-AC-AG | c.2719delinsC | p.Val907Leu | Missense | 23/29 | - | 1 |
7-87150159-C-T | c.2719G>A | p.Val907Ile | Missense | 23/29 | - | 1 |
7-87150162-T-C | c.2716A>G | p.Thr906Ala | Missense | 23/29 | - | 1 |
7-87150163-TCG-TGT | c.2713_2714delinsAC | p.Arg905Thr | Missense | 23/29 | - | 2 |
7-87150164-CG-GC | c.2713_2714delinsGC | p.Arg905Ala | Missense | 23/29 | - | 1 |
7-87150164-C-T | c.2714G>A | p.Arg905Gln | Missense | 23/29 | - | 1 |
7-87150163-T-A | c.2715A>T | p.Arg905Arg | Synonymous | 23/29 | - | 1 |
7-87150163-T-C | c.2715A>G | p.Arg905Arg | Synonymous | 23/29 | - | 1 |
7-87150163-T-G | c.2715A>C | p.Arg905Arg | Synonymous | 23/29 | - | 1 |
7-87150165-G-T | c.2713C>A | p.Arg905Arg | Synonymous | 23/29 | - | 1 |
7-87150167-A-C | c.2711T>G | p.Phe904Cys | Missense | 23/29 | - | 1 |
7-87150180-C-T | c.2698G>A | p.Ala900Thr | Missense | 23/29 | - | 1 |
7-87150191-A-G | c.2687T>C | p.Ile896Thr | Missense | 23/29 | - | 1 |
7-87150774-G-A | c.2686-582C>T | - | IntronicSNV | - | 22/28 | 1 |
7-87151090-T-A | c.2686-898A>T | - | IntronicSNV | - | 22/28 | 2 |
7-87151090-T-C | c.2686-898A>G | - | IntronicSNV | - | 22/28 | 2 |
7-87151524-C-G | c.2686-1332G>C | - | IntronicSNV | - | 22/28 | 2 |
7-87151658-C-T | c.2686-1466G>A | - | IntronicSNV | - | 22/28 | 4 |
7-87152045-A-G | c.2686-1853T>C | - | IntronicSNV | - | 22/28 | 1 |
7-87152103-A-G | c.2686-1911T>C | - | IntronicSNV | - | 22/28 | 8 |
7-87152790-C-A | c.2686-2598G>T | - | IntronicSNV | - | 22/28 | 1 |
7-87153160-G-A | c.2686-2968C>T | - | IntronicSNV | - | 22/28 | 2 |
7-87153585-A-C | c.2686-3393T>G | - | IntronicSNV | - | 22/28 | 6 |
7-87153585-A-G | c.2686-3393T>C | - | IntronicSNV | - | 22/28 | 6 |
7-87154646-A-G | c.2686-4454T>C | - | IntronicSNV | - | 22/28 | 2 |
7-87157051-G-A | c.2685+3559C>T | - | IntronicSNV | - | 22/28 | 11 |
7-87157466-C-G | c.2685+3144G>C | - | IntronicSNV | - | 22/28 | 1 |
7-87157583-A-C | c.2685+3027T>G | - | IntronicSNV | - | 22/28 | 4 |
7-87157706-C-T | c.2685+2904G>A | - | IntronicSNV | - | 22/28 | 1 |
7-87158185-G-T | c.2685+2425C>A | - | IntronicSNV | - | 22/28 | 1 |
7-87160561-A-G | c.2685+49T>C | - | IntronicSNV | - | 22/28 | 26 |
7-87160614-CC-AC | c.2681delinsT | p.Gly894Val | Missense | 22/29 | - | 2 |
7-87160615-C-G | c.2680G>C | p.Gly894Arg | Missense | 22/29 | - | 1 |
7-87160615-C-T | c.2680G>A | p.Gly894Arg | Missense | 22/29 | - | 1 |
7-87160618-A-C | c.2677T>G | p.Ser893Ala | Missense | 22/29 | - | 444 |
7-87160618-A-T | c.2677T>A | p.Ser893Thr | Missense | 22/29 | - | 419 |
7-87160677-AC-CG | c.2617_2618delinsCG | p.Val873Arg | Missense | 22/29 | - | 1 |
7-87160679-TCC-TGT | c.2614_2615delinsAC | p.Gly872Thr | Missense | 22/29 | - | 1 |
7-87160681-C-G | c.2614G>C | p.Gly872Arg | Missense | 22/29 | - | 2 |
7-87160681-C-T | c.2614G>A | p.Gly872Arg | Missense | 22/29 | - | 2 |
7-87160691-AA-GG | c.2603_2604delinsCC | p.Ile868Thr | Missense | 22/29 | - | 2 |
7-87160692-AT-TG | c.2602_2603delinsCA | p.Ile868His | Missense | 22/29 | - | 1 |
7-87160693-T-C | c.2602A>G | p.Ile868Val | Missense | 22/29 | - | 1 |
7-87160713-AG-TG | c.2582delinsA | p.Leu861His | Missense | 22/29 | - | 1 |
7-87160715-TA-GT | c.2579_2580delinsAC | p.Leu860Tyr | Missense | 22/29 | - | 1 |
7-87160718-CAG-TGT | c.2575_2577delinsACA | p.Leu859Thr | Missense | 22/29 | - | 1 |
7-87160724-TAG-TGT | c.2569_2570delinsAC | p.Leu857Thr | Missense | 22/29 | - | 1 |
7-87160727-TTG-TGT | c.2566_2567delinsAC | p.Gln856Thr | Missense | 22/29 | - | 1 |
7-87160740-AT-TG | c.2554_2555delinsCA | p.Ile852His | Missense | 22/29 | - | 1 |
7-87160743-A-C | c.2552T>G | p.Phe851Cys | Missense | 22/29 | - | 1 |
7-87160746-G-C | c.2549C>G | p.Ser850Cys | Missense | 22/29 | - | 1 |
7-87160747-A-C | c.2548T>G | p.Ser850Ala | Missense | 22/29 | - | 1 |
7-87160748-TAT-TGT | c.2546delinsC | p.Ile849Thr | Missense | 22/29 | - | 1 |
7-87160748-T-C | c.2547A>G | p.Ile849Met | Missense | 22/29 | - | 1 |
7-87160752-AT-TG | c.2542_2543delinsCA | p.Ile848His | Missense | 22/29 | - | 1 |
7-87160754-TAT-TGT | c.2540delinsC | p.Ile847Thr | Missense | 22/29 | - | 1 |
7-87160769-AT-GG | c.2525_2526delinsCC | p.Asn842Thr | Missense | 22/29 | - | 1 |
7-87160778-AT-GG | c.2516_2517delinsCC | p.Asn839Thr | Missense | 22/29 | - | 1 |
7-87160782-T-C | c.2513A>G | p.Gln838Arg | Missense | 22/29 | - | 1 |
7-87160794-GC-CG | c.2500_2501delinsCG | p.Ala834Arg | Missense | 22/29 | - | 1 |
7-87160806-C-A | c.2489G>T | p.Gly830Val | Missense | 22/29 | - | 2 |
7-87161049-T-C | c.2482-236A>G | - | IntronicSNV | - | 21/28 | 7 |
7-87161520-T-C | c.2482-707A>G | - | IntronicSNV | - | 21/28 | 5 |
7-87162341-A-G | c.2482-1528T>C | - | IntronicSNV | - | 21/28 | 3 |
7-87163049-C-T | c.2482-2236G>A | - | IntronicSNV | - | 21/28 | 23 |
7-87164349-A-C | c.2481+1425T>G | - | IntronicSNV | - | 21/28 | 1 |
7-87164349-A-G | c.2481+1425T>C | - | IntronicSNV | - | 21/28 | 1 |
7-87164483-G-A | c.2481+1291C>T | - | IntronicSNV | - | 21/28 | 3 |
7-87164756-C-A | c.2481+1018G>T | - | IntronicSNV | - | 21/28 | 1 |
7-87164756-C-T | c.2481+1018G>A | - | IntronicSNV | - | 21/28 | 1 |
7-87164892-T-A | c.2481+882A>T | - | IntronicSNV | - | 21/28 | 4 |
7-87164892-T-C | c.2481+882A>G | - | IntronicSNV | - | 21/28 | 4 |
7-87164892-T-G | c.2481+882A>C | - | IntronicSNV | - | 21/28 | 4 |
7-87164986-A-G | c.2481+788T>C | - | IntronicSNV | - | 21/28 | 12 |
7-87164986-A-T | c.2481+788T>A | - | IntronicSNV | - | 21/28 | 12 |
7-87165697-G-A | c.2481+77C>T | - | IntronicSNV | - | 21/28 | 1 |
7-87165734-G-A | c.2481+40C>T | - | IntronicSNV | - | 21/28 | 2 |
7-87165750-C-A | c.2481+24G>T | - | IntronicSNV | - | 21/28 | 16 |
7-87165750-C-G | c.2481+24G>C | - | IntronicSNV | - | 21/28 | 16 |
7-87165750-C-T | c.2481+24G>A | - | IntronicSNV | - | 21/28 | 16 |
7-87165796-TT-TG | c.2458delinsC | p.Asn820His | Missense | 21/29 | - | 6 |
7-87165802-AG-GC | c.2452_2453delinsGC | p.Leu818Ala | Missense | 21/29 | - | 1 |
7-87165814-AA-GC | c.2440_2441delinsGC | p.Leu814Ala | Missense | 21/29 | - | 1 |
7-87165838-T-G | c.2417A>C | p.Asp806Ala | Missense | 21/29 | - | 1 |
7-87165839-C-T | c.2416G>A | p.Asp806Asn | Missense | 21/29 | - | 2 |
7-87165841-TC-TG | c.2413delinsC | p.Asp805His | Missense | 21/29 | - | 3 |
7-87165841-T-G | c.2414A>C | p.Asp805Ala | Missense | 21/29 | - | 2 |
7-87165842-C-T | c.2413G>A | p.Asp805Asn | Missense | 21/29 | - | 1 |
7-87165843-AA-GG | c.2411_2412delinsCC | p.Phe804Ser | Missense | 21/29 | - | 1 |
7-87165844-AA-GA | c.2411delinsC | p.Phe804Ser | Missense | 21/29 | - | 2 |
7-87165844-AA-GC | c.2410_2411delinsGC | p.Phe804Ala | Missense | 21/29 | - | 2 |
7-87165844-A-C | c.2411T>G | p.Phe804Cys | Missense | 21/29 | - | 1 |
7-87165844-A-G | c.2411T>C | p.Phe804Ser | Missense | 21/29 | - | 1 |
7-87165844-A-T | c.2411T>A | p.Phe804Tyr | Missense | 21/29 | - | 1 |
7-87165843-A-C | c.2412T>G | p.Phe804Leu | Missense | 21/29 | - | 1 |
7-87165843-A-T | c.2412T>A | p.Phe804Leu | Missense | 21/29 | - | 1 |
7-87165845-A-G | c.2410T>C | p.Phe804Leu | Missense | 21/29 | - | 1 |
7-87165846-C-A | c.2409G>T | p.Trp803Cys | Missense | 21/29 | - | 4 |
7-87165846-CCA-GAC | c.2407_2409delinsGTC | p.Trp803Val | Missense | 21/29 | - | 1 |
7-87165846-CC-AT | c.2408_2409delinsAT | p.Trp803Tyr | Missense | 21/29 | - | 1 |
7-87165846-CC-TT | c.2408_2409delinsAA | p.Trp803* | Missense | 21/29 | - | 1 |
7-87165846-C-G | c.2409G>C | p.Trp803Cys | Missense | 21/29 | - | 4 |
7-87165847-C-A | c.2408G>T | p.Trp803Leu | Missense | 21/29 | - | 1 |
7-87165847-CA-GC | c.2407_2408delinsGC | p.Trp803Ala | Missense | 21/29 | - | 1 |
7-87165847-C-G | c.2408G>C | p.Trp803Ser | Missense | 21/29 | - | 1 |
7-87165850-CT-GC | c.2404_2405delinsGC | p.Ser802Ala | Missense | 21/29 | - | 1 |
7-87165853-AC-TC | c.2402delinsA | p.Val801Glu | Missense | 21/29 | - | 1 |
7-87165854-C-T | c.2401G>A | p.Val801Met | Missense | 21/29 | - | 1 |
7-87165856-T-G | c.2399A>C | p.Asp800Ala | Missense | 21/29 | - | 1 |
7-87165857-C-T | c.2398G>A | p.Asp800Asn | Missense | 21/29 | - | 1 |
7-87168027-C-T | c.2397+557G>A | - | IntronicSNV | - | 20/28 | 3 |
7-87168591-AG-GC | c.2389_2390delinsGC | p.Leu797Ala | Missense | 20/29 | - | 1 |
7-87168603-AA-GC | c.2377_2378delinsGC | p.Phe793Ala | Missense | 20/29 | - | 1 |
7-87168612-TA-GC | c.2368_2369delinsGC | p.Tyr790Ala | Missense | 20/29 | - | 1 |
7-87168615-CG-GC | c.2365_2366delinsGC | p.Arg789Ala | Missense | 20/29 | - | 1 |
7-87168749-C-G | c.2320-88G>C | - | IntronicSNV | - | 19/28 | 2 |
7-87168749-C-T | c.2320-88G>A | - | IntronicSNV | - | 19/28 | 2 |
7-87169037-C-T | c.2320-376G>A | - | IntronicSNV | - | 19/28 | 1 |
7-87169356-C-T | c.2320-695G>A | - | IntronicSNV | - | 19/28 | 6 |
7-87169669-T-C | c.2319+1004A>G | - | IntronicSNV | - | 19/28 | 2 |
7-87169702-A-C | c.2319+971T>G | - | IntronicSNV | - | 19/28 | 8 |
7-87170674-T-C | c.2318A>G | p.Gln773Arg | Missense | 19/29 | - | 4 |
7-87170674-TG-GC | c.2317_2318delinsGC | p.Gln773Ala | Missense | 19/29 | - | 1 |
7-87170677-A-T | c.2315T>A | p.Leu772His | Missense | 19/29 | - | 1 |
7-87170683-AA-CG | c.2308_2309delinsCG | p.Phe770Arg | Missense | 19/29 | - | 1 |
7-87170683-A-C | c.2309T>G | p.Phe770Cys | Missense | 19/29 | - | 1 |
7-87170695-GA-CG | c.2296_2297delinsCG | p.Ser766Arg | Missense | 19/29 | - | 1 |
7-87170701-AT-TG | c.2290_2291delinsCA | p.Ile764His | Missense | 19/29 | - | 1 |
7-87170703-TCC-TGT | c.2287_2288delinsAC | p.Gly763Thr | Missense | 19/29 | - | 1 |
7-87170707-AG-TG | c.2285delinsA | p.Leu762His | Missense | 19/29 | - | 1 |
7-87170710-GC-TG | c.2281_2282delinsCA | p.Ala761His | Missense | 19/29 | - | 1 |
7-87170712-TAG-TGT | c.2278_2279delinsAC | p.Leu760Thr | Missense | 19/29 | - | 1 |
7-87170716-A-C | c.2276T>G | p.Phe759Cys | Missense | 19/29 | - | 1 |
7-87170769-TCT-TGT | c.2222delinsC | p.Arg741Thr | Missense | 19/29 | - | 2 |
7-87170770-C-A | c.2222G>T | p.Arg741Ile | Missense | 19/29 | - | 1 |
7-87171152-T-C | c.2212-372A>G | - | IntronicSNV | - | 18/28 | 4 |
7-87171383-G-A | c.2212-603C>T | - | IntronicSNV | - | 18/28 | 1 |
7-87171527-T-C | c.2212-747A>G | - | IntronicSNV | - | 18/28 | 2 |
7-87171659-T-C | c.2212-879A>G | - | IntronicSNV | - | 18/28 | 2 |
7-87172881-C-T | c.2211+564G>A | - | IntronicSNV | - | 18/28 | 1 |
7-87173461-AA-CG | c.2194_2195delinsCG | p.Phe732Arg | Missense | 18/29 | - | 1 |
7-87173461-A-C | c.2195T>G | p.Phe732Cys | Missense | 18/29 | - | 1 |
7-87173463-TAT-TGT | c.2192delinsC | p.Ile731Thr | Missense | 18/29 | - | 2 |
7-87173466-TAT-TGT | c.2189delinsC | p.Ile730Thr | Missense | 18/29 | - | 2 |
7-87173469-TGC-TGT | c.2185delinsA | p.Ala729Thr | Missense | 18/29 | - | 2 |
7-87173473-AA-CG | c.2182_2183delinsCG | p.Phe728Arg | Missense | 18/29 | - | 2 |
7-87173473-AA-GC | c.2182_2183delinsGC | p.Phe728Ala | Missense | 18/29 | - | 1 |
7-87173473-A-C | c.2183T>G | p.Phe728Cys | Missense | 18/29 | - | 10 |
7-87173475-TGC-TGT | c.2179delinsA | p.Ala727Thr | Missense | 18/29 | - | 2 |
7-87173478-TGG-TGT | c.2176delinsA | p.Pro726Thr | Missense | 18/29 | - | 1 |
7-87173481-TTG-TGT | c.2173_2174delinsAC | p.Gln725Thr | Missense | 18/29 | - | 4 |
7-87173482-T-A | c.2174A>T | p.Gln725Leu | Missense | 18/29 | - | 1 |
7-87173482-T-C | c.2174A>G | p.Gln725Arg | Missense | 18/29 | - | 3 |
7-87173482-TG-GC | c.2173_2174delinsGC | p.Gln725Ala | Missense | 18/29 | - | 3 |
7-87173484-CAG-TGT | c.2170_2172delinsACA | p.Leu724Thr | Missense | 18/29 | - | 1 |
7-87173489-C-A | c.2167G>T | p.Gly723Cys | Missense | 18/29 | - | 1 |
7-87173490-TCC-TGT | c.2164_2165delinsAC | p.Gly722Thr | Missense | 18/29 | - | 1 |
7-87173491-C-G | c.2165G>C | p.Gly722Ala | Missense | 18/29 | - | 1 |
7-87173493-AT-GG | c.2162_2163delinsCC | p.Asn721Thr | Missense | 18/29 | - | 1 |
7-87173494-TT-TG | c.2161delinsC | p.Asn721His | Missense | 18/29 | - | 1 |
7-87173496-TAT-TGT | c.2159delinsC | p.Ile720Thr | Missense | 18/29 | - | 1 |
7-87173500-AT-TG | c.2155_2156delinsCA | p.Ile719His | Missense | 18/29 | - | 1 |
7-87173503-GC-TG | c.2152_2153delinsCA | p.Ala718His | Missense | 18/29 | - | 1 |
7-87173505-A-G | c.2151T>C | p.Cys717Cys | Synonymous | 18/29 | - | 1 |
7-87173509-A-C | c.2147T>G | p.Phe716Cys | Missense | 18/29 | - | 1 |
7-87173511-TAC-ATG | c.2143_2145delinsCAT | p.Val715His | Missense | 18/29 | - | 1 |
7-87173511-TAC-TGT | c.2143_2144delinsAC | p.Val715Thr | Missense | 18/29 | - | 1 |
7-87173516-C-A | c.2140G>T | p.Gly714Cys | Missense | 18/29 | - | 1 |
7-87173518-AC-TG | c.2137_2138delinsCA | p.Val713His | Missense | 18/29 | - | 1 |
7-87173521-AC-TG | c.2134_2135delinsCA | p.Val712His | Missense | 18/29 | - | 1 |
7-87173524-A-C | c.2132T>G | p.Phe711Cys | Missense | 18/29 | - | 1 |
7-87173531-G-C | c.2125C>G | p.Pro709Ala | Missense | 18/29 | - | 2 |
7-87173570-A-G | c.2086T>C | p.Ser696Pro | Missense | 18/29 | - | 1 |
7-87173667-A-T | c.2065-76T>A | - | IntronicSNV | - | 17/28 | 7 |
7-87174066-T-A | c.2064+73A>T | - | IntronicSNV | - | 17/28 | 11 |
7-87174066-T-C | c.2064+73A>G | - | IntronicSNV | - | 17/28 | 11 |
7-87174066-T-G | c.2064+73A>C | - | IntronicSNV | - | 17/28 | 11 |
7-87174161-TT-GC | c.2041_2042delinsGC | p.Lys681Ala | Missense | 17/29 | - | 1 |
7-87174198-G-A | c.2005C>T | p.Arg669Cys | Missense | 17/29 | - | 6 |
7-87174218-A-C | c.1985T>G | p.Leu662Arg | Missense | 17/29 | - | 4 |
7-87174243-A-G | c.1960T>C | p.Ser654Pro | Missense | 17/29 | - | 1 |
7-87174297-C-G | c.1906G>C | p.Glu636Gln | Missense | 17/29 | - | 1 |
7-87174504-C-A | c.1888-189G>T | - | IntronicSNV | - | 16/28 | 3 |
7-87174504-C-T | c.1888-189G>A | - | IntronicSNV | - | 16/28 | 3 |
7-87175196-T-C | c.1870A>G | p.Lys624Glu | Missense | 16/29 | - | 1 |
7-87175234-TT-TG | c.1831delinsC | p.Asn611His | Missense | 16/29 | - | 1 |
7-87175271-C-T | c.1795G>A | p.Ala599Thr | Missense | 16/29 | - | 2 |
7-87175282-G-C | c.1784C>G | p.Ala595Gly | Missense | 16/29 | - | 1 |
7-87175304-G-A | c.1762C>T | p.Arg588Cys | Missense | 16/29 | - | 1 |
7-87175313-T-C | c.1753A>G | p.Ile585Val | Missense | 16/29 | - | 3 |
7-87175328-G-A | c.1738C>T | p.Arg580Trp | Missense | 16/29 | - | 1 |
7-87175331-C-A | c.1735G>T | p.Gly579Cys | Missense | 16/29 | - | 1 |
7-87175444-C-T | c.1726-104G>A | - | IntronicSNV | - | 15/28 | 1 |
7-87176430-C-T | c.1726-1090G>A | - | IntronicSNV | - | 15/28 | 1 |
7-87176463-A-G | c.1726-1123T>C | - | IntronicSNV | - | 15/28 | 3 |
7-87176463-A-T | c.1726-1123T>A | - | IntronicSNV | - | 15/28 | 3 |
7-87178626-C-T | c.1725+38G>A | - | IntronicSNV | - | 15/28 | 12 |
7-87178693-C-T | c.1696G>A | p.Glu566Lys | Missense | 15/29 | - | 1 |
7-87178716-G-A | c.1673C>T | p.Thr558Met | Missense | 15/29 | - | 1 |
7-87178723-C-G | c.1666G>C | p.Glu556Gln | Missense | 15/29 | - | 13 |
7-87178726-C-T | c.1663G>A | p.Asp555Asn | Missense | 15/29 | - | 1 |
7-87178727-C-G | c.1662G>C | p.Leu554Leu | Synonymous | 15/29 | - | 1 |
7-87178727-C-T | c.1662G>A | p.Leu554Leu | Synonymous | 15/29 | - | 1 |
7-87178730-C-G | c.1659G>C | p.Leu553Leu | Synonymous | 15/29 | - | 1 |
7-87178730-C-T | c.1659G>A | p.Leu553Leu | Synonymous | 15/29 | - | 1 |
7-87178741-T-A | c.1648A>T | p.Lys550* | Nonsense | 15/29 | - | 1 |
7-87178750-G-A | c.1639C>T | p.Arg547Cys | Missense | 15/29 | - | 1 |
7-87178762-G-A | c.1627C>T | p.Arg543Cys | Missense | 15/29 | - | 1 |
7-87178770-GC-CG | c.1618_1619delinsCG | p.Ala540Arg | Missense | 15/29 | - | 1 |
7-87178770-GC-TT | c.1618_1619delinsAA | p.Ala540Asn | Missense | 15/29 | - | 1 |
7-87178796-CA-GT | c.1592_1593delinsAC | p.Leu531Tyr | Missense | 15/29 | - | 1 |
7-87178819-C-T | c.1570G>A | p.Val524Ile | Missense | 15/29 | - | 1 |
7-87179086-G-A | c.1554+81C>T | - | IntronicSNV | - | 14/28 | 6 |
7-87179143-A-G | c.1554+24T>C | - | IntronicSNV | - | 14/28 | 13 |
7-87179171-GG-TG | c.1550delinsA | p.Pro517His | Missense | 14/29 | - | 3 |
7-87179205-C-G | c.1516G>C | p.Glu506Gln | Missense | 14/29 | - | 2 |
7-87179215-T-C | c.1506A>G | p.Lys502Lys | Synonymous | 14/29 | - | 1 |
7-87179220-C-G | c.1501G>C | p.Glu501Gln | Missense | 14/29 | - | 1 |
7-87179251-CATA-C | c.1468_1470del | p.Tyr490del | InFrameDeletion | 14/29 | - | 1 |
7-87179252-T-C | c.1469A>G | p.Tyr490Cys | Missense | 14/29 | - | 1 |
7-87179296-C-A | c.1425G>T | p.Gln475His | Missense | 14/29 | - | 1 |
7-87179296-C-G | c.1425G>C | p.Gln475His | Missense | 14/29 | - | 1 |
7-87179297-TG-GC | c.1423_1424delinsGC | p.Gln475Ala | Missense | 14/29 | - | 1 |
7-87179300-C-T | c.1421G>A | p.Ser474Asn | Missense | 14/29 | - | 1 |
7-87179301-T-A | c.1420A>T | p.Ser474Cys | Missense | 14/29 | - | 1 |
7-87179322-G-A | c.1399C>T | p.Arg467Trp | Missense | 14/29 | - | 1 |
7-87179342-G-T | c.1379C>A | p.Thr460Asn | Missense | 14/29 | - | 1 |
7-87179361-C-T | c.1360G>A | p.Asp454Asn | Missense | 14/29 | - | 1 |
7-87179443-G-A | c.1350+44C>T | - | IntronicSNV | - | 13/28 | 8 |
7-87179495-C-T | c.1342G>A | p.Glu448Lys | Missense | 13/29 | - | 1 |
7-87179498-T-C | c.1339A>G | p.Thr447Ala | Missense | 13/29 | - | 1 |
7-87179505-A-C | c.1332T>G | p.Tyr444* | Nonsense | 13/29 | - | 1 |
7-87179505-A-T | c.1332T>A | p.Tyr444* | Nonsense | 13/29 | - | 1 |
7-87179505-ATA-GAG | c.1330_1332delinsCTC | p.Tyr444Leu | Missense | 13/29 | - | 1 |
7-87179506-T-A | c.1331A>T | p.Tyr444Phe | Missense | 13/29 | - | 1 |
7-87179506-TA-CG | c.1330_1331delinsCG | p.Tyr444Arg | Missense | 13/29 | - | 1 |
7-87179506-TA-CT | c.1330_1331delinsAG | p.Tyr444Ser | Missense | 13/29 | - | 1 |
7-87179506-TA-GC | c.1330_1331delinsGC | p.Tyr444Ala | Missense | 13/29 | - | 1 |
7-87179508-GAG-TAA | c.1327_1329delinsTTA | p.Leu443Leu | Nonsense | 13/29 | - | 1 |
7-87179509-A-C | c.1328T>G | p.Leu443Arg | Missense | 13/29 | - | 1 |
7-87179509-AG-GC | c.1327_1328delinsGC | p.Leu443Ala | Missense | 13/29 | - | 1 |
7-87179509-AG-TG | c.1328delinsA | p.Leu443His | Missense | 13/29 | - | 4 |
7-87179510-G-A | c.1327C>T | p.Leu443Phe | Missense | 13/29 | - | 2 |
7-87179532-T-C | c.1305A>G | p.Thr435Thr | Synonymous | 13/29 | - | 1 |
7-87179536-C-A | c.1301G>T | p.Ser434Ile | Missense | 13/29 | - | 1 |
7-87179539-T-A | c.1298A>T | p.Lys433Met | Missense | 13/29 | - | 1 |
7-87179544-A-C | c.1293T>G | p.Cys431Trp | Missense | 13/29 | - | 2 |
7-87179545-C-A | c.1292G>T | p.Cys431Phe | Missense | 13/29 | - | 1 |
7-87179545-CA-CT | c.1291delinsA | p.Cys431Ser | Missense | 13/29 | - | 1 |
7-87179545-CA-GC | c.1291_1292delinsGC | p.Cys431Ala | Missense | 13/29 | - | 1 |
7-87179575-T-C | c.1262A>G | p.Gln421Arg | Missense | 13/29 | - | 1 |
7-87179581-C-G | c.1256G>C | p.Ser419Thr | Missense | 13/29 | - | 1 |
7-87179586-CAC-ATC | c.1250_1251delinsAT | p.Val417Asp | Missense | 13/29 | - | 3 |
7-87179601-A-C | c.1236T>G | p.Gly412Gly | Synonymous | 13/29 | - | 62 |
7-87179601-A-G | c.1236T>C | p.Gly412Gly | Synonymous | 13/29 | - | 391 |
7-87179601-A-T | c.1236T>A | p.Gly412Gly | Synonymous | 13/29 | - | 62 |
7-87179616-C-T | c.1225-4G>A | - | IntronicSNV | - | 12/28 | 2 |
7-87179695-T-C | c.1225-83A>G | - | IntronicSNV | - | 12/28 | 1 |
7-87179800-G-T | c.1208C>A | p.Ser403Tyr | Missense | 12/29 | - | 1 |
7-87179806-TA-GC | c.1201_1202delinsGC | p.Tyr401Ala | Missense | 12/29 | - | 2 |
7-87179809-C-A | c.1199G>T | p.Ser400Ile | Missense | 12/29 | - | 21 |
7-87179809-C-G | c.1199G>C | p.Ser400Thr | Missense | 12/29 | - | 1 |
7-87179809-C-T | c.1199G>A | p.Ser400Asn | Missense | 12/29 | - | 43 |
7-87179824-C-G | c.1184G>C | p.Arg395Thr | Missense | 12/29 | - | 1 |
7-87179839-C-A | c.1169G>T | p.Gly390Val | Missense | 12/29 | - | 1 |
7-87179862-CCC-TTT | c.1144_1146delinsAAA | p.Gly382Lys | Missense | 12/29 | - | 1 |
7-87179869-TT-GC | c.1138_1139delinsGC | p.Lys380Ala | Missense | 12/29 | - | 1 |
7-87180104-TGG-TGT | c.1048delinsA | p.Pro350Thr | Missense | 11/29 | - | 1 |
7-87180114-T-C | c.1040A>G | p.Gln347Arg | Missense | 11/29 | - | 1 |
7-87180116-TCC-TGT | c.1036_1037delinsAC | p.Gly346Thr | Missense | 11/29 | - | 2 |
7-87180122-A-C | c.1032T>G | p.Ser344Arg | Missense | 11/29 | - | 1 |
7-87180122-A-T | c.1032T>A | p.Ser344Arg | Missense | 11/29 | - | 1 |
7-87180124-T-G | c.1030A>C | p.Ser344Arg | Missense | 11/29 | - | 1 |
7-87180126-AA-CG | c.1027_1028delinsCG | p.Phe343Arg | Missense | 11/29 | - | 3 |
7-87180126-A-C | c.1028T>G | p.Phe343Cys | Missense | 11/29 | - | 8 |
7-87180126-A-T | c.1028T>A | p.Phe343Tyr | Missense | 11/29 | - | 1 |
7-87180133-C-CC | c.1024dup | p.Ala342Glyfs*3 | Frameshift | 11/29 | - | 1 |
7-87180134-AA-GG | c.1019_1020delinsCC | p.Ile340Thr | Missense | 11/29 | - | 1 |
7-87180135-AT-TG | c.1018_1019delinsCA | p.Ile340His | Missense | 11/29 | - | 1 |
7-87180137-TA-GT | c.1016_1017delinsAC | p.Leu339Tyr | Missense | 11/29 | - | 9 |
7-87180138-AA-AG | c.1015delinsC | p.Leu339Leu | Missense | 11/29 | - | 1 |
7-87180141-AC-AG | c.1012delinsC | p.Val338Leu | Missense | 11/29 | - | 1 |
7-87180147-AA-CG | c.1006_1007delinsCG | p.Phe336Arg | Missense | 11/29 | - | 3 |
7-87180147-AA-GC | c.1006_1007delinsGC | p.Phe336Ala | Missense | 11/29 | - | 1 |
7-87180150-AA-GC | c.1003_1004delinsGC | p.Phe335Ala | Missense | 11/29 | - | 2 |
7-87180150-A-C | c.1004T>G | p.Phe335Cys | Missense | 11/29 | - | 2 |
7-87180198-C-A | c.1000-44G>T | - | IntronicSNV | - | 10/28 | 16 |
7-87180198-C-T | c.1000-44G>A | - | IntronicSNV | - | 10/28 | 18 |
7-87180678-A-T | c.1000-524T>A | - | IntronicSNV | - | 10/28 | 1 |
7-87181175-C-A | c.1000-1021G>T | - | IntronicSNV | - | 10/28 | 2 |
7-87181175-C-T | c.1000-1021G>A | - | IntronicSNV | - | 10/28 | 2 |
7-87181418-C-A | c.1000-1264G>T | - | IntronicSNV | - | 10/28 | 2 |
7-87181849-G-T | c.999+1228C>A | - | IntronicSNV | - | 10/28 | 3 |
7-87182779-G-C | c.999+298C>G | - | IntronicSNV | - | 10/28 | 1 |
7-87182779-G-T | c.999+298C>A | - | IntronicSNV | - | 10/28 | 1 |
7-87182882-T-C | c.999+195A>G | - | IntronicSNV | - | 10/28 | 1 |
7-87183078-GT-TG | c.997_998delinsCA | p.Thr333His | Missense | 10/29 | - | 3 |
7-87183080-GAG-ATG | c.995_996delinsAT | p.Leu332His | Missense | 10/29 | - | 1 |
7-87183081-AG-TG | c.995delinsA | p.Leu332His | Missense | 10/29 | - | 3 |
7-87183084-A-G | c.992T>C | p.Val331Ala | Missense | 10/29 | - | 1 |
7-87183086-TTG-AAC | c.988_990delinsGTT | p.Gln330Val | Missense | 10/29 | - | 1 |
7-87183104-CCC-TGT | c.970_972delinsACA | p.Gly324Thr | Missense | 10/29 | - | 1 |
7-87183131-C-A | c.945G>T | p.Trp315Cys | Missense | 10/29 | - | 1 |
7-87183131-C-G | c.945G>C | p.Trp315Cys | Missense | 10/29 | - | 1 |
7-87183138-G-C | c.938C>G | p.Ala313Gly | Missense | 10/29 | - | 4 |
7-87183147-T-A | c.929A>T | p.Tyr310Phe | Missense | 10/29 | - | 2 |
7-87183147-TA-CG | c.928_929delinsCG | p.Tyr310Arg | Missense | 10/29 | - | 1 |
7-87183147-TA-GC | c.928_929delinsGC | p.Tyr310Ala | Missense | 10/29 | - | 3 |
7-87183150-GA-CG | c.925_926delinsCG | p.Ser309Arg | Missense | 10/29 | - | 1 |
7-87183153-G-C | c.923C>G | p.Ala308Gly | Missense | 10/29 | - | 1 |
7-87183156-T-A | c.920A>T | p.Tyr307Phe | Missense | 10/29 | - | 1 |
7-87183156-TA-CG | c.919_920delinsCG | p.Tyr307Arg | Missense | 10/29 | - | 1 |
7-87183156-TA-GC | c.919_920delinsGC | p.Tyr307Ala | Missense | 10/29 | - | 3 |
7-87183156-T-C | c.920A>G | p.Tyr307Cys | Missense | 10/29 | - | 3 |
7-87183157-A-G | c.919T>C | p.Tyr307His | Missense | 10/29 | - | 1 |
7-87183158-GA-GG | c.917delinsC | p.Ile306Thr | Missense | 10/29 | - | 4 |
7-87183159-AT-TG | c.916_917delinsCA | p.Ile306His | Missense | 10/29 | - | 9 |
7-87183161-CAG-TTT | c.913_915delinsAAA | p.Leu305Lys | Missense | 10/29 | - | 1 |
7-87183163-G-C | c.913C>G | p.Leu305Val | Missense | 10/29 | - | 1 |
7-87183168-AA-CG | c.907_908delinsCG | p.Phe303Arg | Missense | 10/29 | - | 2 |
7-87183167-G-C | c.909C>G | p.Phe303Leu | Missense | 10/29 | - | 1 |
7-87183167-G-T | c.909C>A | p.Phe303Leu | Missense | 10/29 | - | 1 |
7-87183169-A-G | c.907T>C | p.Phe303Leu | Missense | 10/29 | - | 1 |
7-87183171-GC-CG | c.904_905delinsCG | p.Ala302Arg | Missense | 10/29 | - | 2 |
7-87183177-C-A | c.899G>T | p.Gly300Val | Missense | 10/29 | - | 1 |
7-87183179-TAT-TGT | c.896delinsC | p.Ile299Thr | Missense | 10/29 | - | 3 |
7-87183180-A-C | c.896T>G | p.Ile299Arg | Missense | 10/29 | - | 1 |
7-87183192-GC-TG | c.883_884delinsCA | p.Ala295His | Missense | 10/29 | - | 2 |
7-87183205-T-A | c.871A>T | p.Lys291* | Nonsense | 10/29 | - | 1 |
7-87183221-T-A | c.855A>T | p.Lys285Asn | Missense | 10/29 | - | 1 |
7-87183221-T-G | c.855A>C | p.Lys285Asn | Missense | 10/29 | - | 1 |
7-87183234-A-G | c.842T>C | p.Leu281Ser | Missense | 10/29 | - | 1 |
7-87183235-A-C | c.841T>G | p.Leu281Val | Missense | 10/29 | - | 1 |
7-87183246-TA-GC | c.829_830delinsGC | p.Tyr277Ala | Missense | 10/29 | - | 1 |
7-87183354-T-A | c.828-106A>T | - | IntronicSNV | - | 9/28 | 2 |
7-87183354-T-C | c.828-106A>G | - | IntronicSNV | - | 9/28 | 2 |
7-87183666-A-AA | c.828-405dup | - | IntronicInsertion | - | 9/28 | 1 |
7-87185894-G-A | c.828-2646C>T | - | IntronicSNV | - | 9/28 | 2 |
7-87186018-C-G | c.828-2770G>C | - | IntronicSNV | - | 9/28 | 2 |
7-87186018-C-T | c.828-2770G>A | - | IntronicSNV | - | 9/28 | 2 |
7-87189930-T-G | c.827+649A>C | - | IntronicSNV | - | 9/28 | 9 |
7-87190086-A-G | c.827+493T>C | - | IntronicSNV | - | 9/28 | 1 |
7-87190452-C-T | c.827+127G>A | - | IntronicSNV | - | 9/28 | 7 |
7-87190579-CT-GC | c.826_827delinsGC | p.Arg276Ala | Missense | 9/29 | - | 2 |
7-87190597-TG-GC | c.808_809delinsGC | p.Gln270Ala | Missense | 9/29 | - | 1 |
7-87190600-C-A | c.806G>T | p.Gly269Val | Missense | 9/29 | - | 2 |
7-87190603-C-A | c.803G>T | p.Gly268Val | Missense | 9/29 | - | 5 |
7-87190606-AA-GC | c.799_800delinsGC | p.Phe267Ala | Missense | 9/29 | - | 2 |
7-87190606-A-C | c.800T>G | p.Phe267Cys | Missense | 9/29 | - | 1 |
7-87190608-TG-AC | c.797_798delinsGT | p.Ala266Gly | Missense | 9/29 | - | 1 |
7-87190608-TGC-TAT | c.796_797delinsAT | p.Ala266Ile | Missense | 9/29 | - | 1 |
7-87190608-TGC-TGG | c.796delinsC | p.Ala266Pro | Missense | 9/29 | - | 1 |
7-87190608-TGC-TGT | c.796delinsA | p.Ala266Thr | Missense | 9/29 | - | 6 |
7-87190608-TGC-TTT | c.796_797delinsAA | p.Ala266Lys | Missense | 9/29 | - | 1 |
7-87190609-GC-CT | c.796_797delinsAG | p.Ala266Arg | Missense | 9/29 | - | 1 |
7-87190610-C-A | c.796G>T | p.Ala266Ser | Missense | 9/29 | - | 1 |
7-87190612-A-C | c.794T>G | p.Ile265Ser | Missense | 9/29 | - | 2 |
7-87190615-AC-TC | c.791delinsA | p.Val264Glu | Missense | 9/29 | - | 2 |
7-87190619-T-C | c.787A>G | p.Thr263Ala | Missense | 9/29 | - | 2 |
7-87190621-CT-GC | c.784_785delinsGC | p.Arg262Ala | Missense | 9/29 | - | 2 |
7-87190624-A-C | c.782T>G | p.Ile261Ser | Missense | 9/29 | - | 2 |
7-87190625-T-C | c.781A>G | p.Ile261Val | Missense | 9/29 | - | 1 |
7-87190627-GC-CT | c.778_779delinsAG | p.Ala260Arg | Missense | 9/29 | - | 1 |
7-87190629-TGC-TGT | c.775delinsA | p.Ala259Thr | Missense | 9/29 | - | 4 |
7-87190630-GC-CT | c.775_776delinsAG | p.Ala259Arg | Missense | 9/29 | - | 1 |
7-87190633-A-G | c.773T>C | p.Leu258Ser | Missense | 9/29 | - | 1 |
7-87190639-T-G | c.767A>C | p.Glu256Ala | Missense | 9/29 | - | 2 |
7-87190641-T-A | c.765A>T | p.Glu255Asp | Missense | 9/29 | - | 1 |
7-87190641-T-G | c.765A>C | p.Glu255Asp | Missense | 9/29 | - | 1 |
7-87190642-T-A | c.764A>T | p.Glu255Val | Missense | 9/29 | - | 8 |
7-87190643-C-T | c.763G>A | p.Glu255Lys | Missense | 9/29 | - | 11 |
7-87190645-GC-CT | c.760_761delinsAG | p.Ala254Ser | Missense | 9/29 | - | 1 |
7-87190648-AC-TC | c.758delinsA | p.Val253Glu | Missense | 9/29 | - | 1 |
7-87190654-C-A | c.752G>T | p.Gly251Val | Missense | 9/29 | - | 9 |
7-87190657-G-A | c.749C>T | p.Ala250Val | Missense | 9/29 | - | 1 |
7-87190657-GC-CT | c.748_749delinsAG | p.Ala250Ser | Missense | 9/29 | - | 1 |
7-87190657-GC-TG | c.748_749delinsCA | p.Ala250His | Missense | 9/29 | - | 1 |
7-87190664-C-T | c.742G>A | p.Ala248Thr | Missense | 9/29 | - | 1 |
7-87190669-G-A | c.737C>T | p.Ala246Val | Missense | 9/29 | - | 1 |
7-87190698-TAG-TGT | c.706_707delinsAC | p.Leu236Thr | Missense | 9/29 | - | 1 |
7-87190701-TAT-TGT | c.704delinsC | p.Ile235Thr | Missense | 9/29 | - | 1 |
7-87190703-T-A | c.703A>T | p.Ile235Leu | Missense | 9/29 | - | 1 |
7-87190703-T-G | c.703A>C | p.Ile235Leu | Missense | 9/29 | - | 1 |
7-87191246-G-A | c.703-543C>T | - | IntronicSNV | - | 8/28 | 1 |
7-87191669-C-G | c.703-966G>C | - | IntronicSNV | - | 8/28 | 3 |
7-87192275-C-T | c.703-1572G>A | - | IntronicSNV | - | 8/28 | 2 |
7-87192731-G-A | c.703-2028C>T | - | IntronicSNV | - | 8/28 | 1 |
7-87193597-G-A | c.702+1789C>T | - | IntronicSNV | - | 8/28 | 2 |
7-87195106-C-T | c.702+280G>A | - | IntronicSNV | - | 8/28 | 2 |
7-87195389-T-C | c.699A>G | p.Ala233Ala | Synonymous | 8/29 | - | 1 |
7-87195389-TGC-TGT | c.697delinsA | p.Ala233Thr | Missense | 8/29 | - | 1 |
7-87195392-C-A | c.696G>T | p.Trp232Cys | Missense | 8/29 | - | 1 |
7-87195392-C-G | c.696G>C | p.Trp232Cys | Missense | 8/29 | - | 1 |
7-87195394-A-G | c.694T>C | p.Trp232Arg | Missense | 8/29 | - | 2 |
7-87195394-A-T | c.694T>A | p.Trp232Arg | Missense | 8/29 | - | 2 |
7-87195396-AC-CG | c.691_692delinsCG | p.Val231Arg | Missense | 8/29 | - | 1 |
7-87195396-AC-TG | c.691_692delinsCA | p.Val231His | Missense | 8/29 | - | 1 |
7-87195399-GC-CG | c.688_689delinsCG | p.Ala230Arg | Missense | 8/29 | - | 1 |
7-87195407-CAG-TGT | c.679_681delinsACA | p.Leu227Thr | Missense | 8/29 | - | 1 |
7-87195414-A-C | c.674T>G | p.Leu225Arg | Missense | 8/29 | - | 2 |
7-87195421-G-C | c.667C>G | p.Pro223Ala | Missense | 8/29 | - | 1 |
7-87195424-T-A | c.664A>T | p.Ser222Cys | Missense | 8/29 | - | 1 |
7-87195425-GA-GG | c.662delinsC | p.Ile221Thr | Missense | 8/29 | - | 1 |
7-87195429-G-A | c.659C>T | p.Ala220Val | Missense | 8/29 | - | 1 |
7-87195434-AA-GG | c.653_654delinsCC | p.Ile218Thr | Missense | 8/29 | - | 1 |
7-87195438-A-AG | c.649_650insC | p.Val217Alafs*25 | Frameshift | 8/29 | - | 1 |
7-87195456-CC-AC | c.632delinsT | p.Gly211Val | Missense | 8/29 | - | 2 |
7-87195489-A-T | c.599T>A | p.Phe200Tyr | Missense | 8/29 | - | 2 |
7-87195492-G-A | c.596C>T | p.Thr199Ile | Missense | 8/29 | - | 1 |
7-87195492-G-C | c.596C>G | p.Thr199Arg | Missense | 8/29 | - | 2 |
7-87195501-GA-AG | c.586_587delinsCT | p.Ser196Leu | Missense | 8/29 | - | 1 |
7-87195504-T-C | c.584A>G | p.Gln195Arg | Missense | 8/29 | - | 1 |
7-87195516-C-G | c.572G>C | p.Gly191Ala | Missense | 8/29 | - | 1 |
7-87195517-C-G | c.571G>C | p.Gly191Arg | Missense | 8/29 | - | 3 |
7-87195517-C-T | c.571G>A | p.Gly191Arg | Missense | 8/29 | - | 3 |
7-87195533-T-A | c.555A>T | p.Gly185Gly | Synonymous | 8/29 | - | 1 |
7-87195533-TCC-TGT | c.553_554delinsAC | p.Gly185Thr | Missense | 8/29 | - | 1 |
7-87195534-C-A | c.554G>T | p.Gly185Val | Missense | 8/29 | - | 8 |
7-87195850-T-C | c.530+251A>G | - | IntronicSNV | - | 7/28 | 9 |
7-87195962-G-A | c.530+139C>T | - | IntronicSNV | - | 7/28 | 12 |
7-87196101-TC-TG | c.529delinsC | p.Asp177His | Missense | 7/29 | - | 2 |
7-87196107-AG-TG | c.524delinsA | p.Leu175His | Missense | 7/29 | - | 6 |
7-87196140-TC-TG | c.490delinsC | p.Asp164His | Missense | 7/29 | - | 4 |
7-87196140-T-G | c.491A>C | p.Asp164Ala | Missense | 7/29 | - | 4 |
7-87196141-C-T | c.490G>A | p.Asp164Asn | Missense | 7/29 | - | 1 |
7-87196143-A-C | c.488T>G | p.Phe163Cys | Missense | 7/29 | - | 1 |
7-87196149-C-A | c.482G>T | p.Gly161Val | Missense | 7/29 | - | 1 |
7-87196151-TAT-TGT | c.479delinsC | p.Ile160Thr | Missense | 7/29 | - | 1 |
7-87196151-T-C | c.480A>G | p.Ile160Met | Missense | 7/29 | - | 1 |
7-87196152-AT-GC | c.478_479delinsGC | p.Ile160Ala | Missense | 7/29 | - | 1 |
7-87196182-T-C | c.449A>G | p.Gln150Arg | Missense | 7/29 | - | 1 |
7-87196219-G-C | c.412C>G | p.Leu138Val | Missense | 7/29 | - | 1 |
7-87196220-G-A | c.411C>T | p.Cys137Cys | Synonymous | 7/29 | - | 1 |
7-87196222-A-G | c.409T>C | p.Cys137Arg | Missense | 7/29 | - | 1 |
7-87196225-A-G | c.406T>C | p.Trp136Arg | Missense | 7/29 | - | 1 |
7-87196225-A-T | c.406T>A | p.Trp136Arg | Missense | 7/29 | - | 1 |
7-87196230-GA-AG | c.400_401delinsCT | p.Ser134Leu | Missense | 7/29 | - | 1 |
7-87196233-AC-TG | c.397_398delinsCA | p.Val133His | Missense | 7/29 | - | 1 |
7-87196236-T-C | c.395A>G | p.Gln132Arg | Missense | 7/29 | - | 3 |
7-87196236-TG-GC | c.394_395delinsGC | p.Gln132Ala | Missense | 7/29 | - | 1 |
7-87196238-AA-GG | c.392_393delinsCC | p.Ile131Thr | Missense | 7/29 | - | 1 |
7-87196244-AGC-AAG | c.385_386delinsCT | p.Ala129Leu | Missense | 7/29 | - | 1 |
7-87196245-GC-CG | c.385_386delinsCG | p.Ala129Arg | Missense | 7/29 | - | 1 |
7-87196254-A-G | c.377T>C | p.Leu126Pro | Missense | 7/29 | - | 1 |
7-87197059-C-T | c.339-767G>A | - | IntronicSNV | - | 6/28 | 3 |
7-87197594-G-A | c.339-1302C>T | - | IntronicSNV | - | 6/28 | 1 |
7-87198459-G-A | c.338+1029C>T | - | IntronicSNV | - | 6/28 | 1 |
7-87198459-G-T | c.338+1029C>A | - | IntronicSNV | - | 6/28 | 1 |
7-87199182-G-A | c.338+306C>T | - | IntronicSNV | - | 6/28 | 2 |
7-87199264-C-A | c.338+224G>T | - | IntronicSNV | - | 6/28 | 1 |
7-87199265-T-A | c.338+223A>T | - | IntronicSNV | - | 6/28 | 2 |
7-87199365-T-C | c.338+123A>G | - | IntronicSNV | - | 6/28 | 2 |
7-87199506-AG-TC | c.319_320delinsGA | p.Leu107Glu | Missense | 6/29 | - | 1 |
7-87199517-G-C | c.309C>G | p.Phe103Leu | Missense | 6/29 | - | 2 |
7-87199517-G-T | c.309C>A | p.Phe103Leu | Missense | 6/29 | - | 2 |
7-87199519-A-G | c.307T>C | p.Phe103Leu | Missense | 6/29 | - | 2 |
7-87199528-TCATT-T | c.296_299del | p.Asn99Ilefs*6 | Frameshift | 6/29 | - | 1 |
7-87199530-TT-GC | c.295_296delinsGC | p.Asn99Ala | Missense | 6/29 | - | 1 |
7-87199564-C-A | c.287-25G>T | - | IntronicSNV | - | 5/28 | 24 |
7-87199564-C-T | c.287-25G>A | - | IntronicSNV | - | 5/28 | 24 |
7-87200467-T-A | c.287-928A>T | - | IntronicSNV | - | 5/28 | 3 |
7-87200639-T-C | c.287-1100A>G | - | IntronicSNV | - | 5/28 | 1 |
7-87200773-C-G | c.287-1234G>C | - | IntronicSNV | - | 5/28 | 5 |
7-87201086-C-T | c.287-1547G>A | - | IntronicSNV | - | 5/28 | 4 |
7-87201380-T-C | c.287-1841A>G | - | IntronicSNV | - | 5/28 | 7 |
7-87201482-G-C | c.287-1943C>G | - | IntronicSNV | - | 5/28 | 3 |
7-87202544-T-C | c.287-3005A>G | - | IntronicSNV | - | 5/28 | 3 |
7-87202615-C-T | c.287-3076G>A | - | IntronicSNV | - | 5/28 | 8 |
7-87203840-C-T | c.287-4301G>A | - | IntronicSNV | - | 5/28 | 1 |
7-87204279-C-A | c.287-4740G>T | - | IntronicSNV | - | 5/28 | 6 |
7-87204279-C-T | c.287-4740G>A | - | IntronicSNV | - | 5/28 | 6 |
7-87205663-A-G | c.287-6124T>C | - | IntronicSNV | - | 5/28 | 1 |
7-87205663-A-T | c.287-6124T>A | - | IntronicSNV | - | 5/28 | 1 |
7-87206615-C-T | c.287-7076G>A | - | IntronicSNV | - | 5/28 | 2 |
7-87209150-G-A | c.286+5678C>T | - | IntronicSNV | - | 5/28 | 1 |
7-87209150-G-C | c.286+5678C>G | - | IntronicSNV | - | 5/28 | 1 |
7-87209372-T-C | c.286+5456A>G | - | IntronicSNV | - | 5/28 | 1 |
7-87210974-C-A | c.286+3854G>T | - | IntronicSNV | - | 5/28 | 4 |
7-87210974-C-T | c.286+3854G>A | - | IntronicSNV | - | 5/28 | 4 |
7-87211045-T-A | c.286+3783A>T | - | IntronicSNV | - | 5/28 | 2 |
7-87211045-T-C | c.286+3783A>G | - | IntronicSNV | - | 5/28 | 2 |
7-87212461-G-A | c.286+2367C>T | - | IntronicSNV | - | 5/28 | 2 |
7-87212990-T-A | c.286+1838A>T | - | IntronicSNV | - | 5/28 | 8 |
7-87213232-A-G | c.286+1596T>C | - | IntronicSNV | - | 5/28 | 2 |
7-87213258-C-T | c.286+1570G>A | - | IntronicSNV | - | 5/28 | 2 |
7-87213384-C-T | c.286+1444G>A | - | IntronicSNV | - | 5/28 | 1 |
7-87213901-C-T | c.286+927G>A | - | IntronicSNV | - | 5/28 | 6 |
7-87214833-TT-GC | c.280_281delinsGC | p.Asn94Ala | Missense | 5/29 | - | 1 |
7-87214842-TT-GC | c.271_272delinsGC | p.Asn91Ala | Missense | 5/29 | - | 1 |
7-87214848-A-G | c.266T>C | p.Met89Thr | Missense | 5/29 | - | 5 |
7-87214874-TGC-TGT | c.238delinsA | p.Ala80Thr | Missense | 5/29 | - | 2 |
7-87214875-G-C | c.239C>G | p.Ala80Gly | Missense | 5/29 | - | 5 |
7-87214875-G-T | c.239C>A | p.Ala80Glu | Missense | 5/29 | - | 1 |
7-87214876-C-G | c.238G>C | p.Ala80Pro | Missense | 5/29 | - | 1 |
7-87214886-CTGTC-C | c.227_230del | p.Thr76Ilefs*9 | Frameshift | 5/29 | - | 1 |
7-87214893-T-G | c.221A>C | p.Glu74Ala | Missense | 5/29 | - | 1 |
7-87214898-AA-GG | c.215_216delinsCC | p.Phe72Ser | Missense | 5/29 | - | 1 |
7-87214899-AA-CG | c.214_215delinsCG | p.Phe72Arg | Missense | 5/29 | - | 2 |
7-87214901-CAC-TGT | c.211_213delinsACA | p.Val71Thr | Missense | 5/29 | - | 1 |
7-87214902-AC-AG | c.211delinsC | p.Val71Leu | Missense | 5/29 | - | 1 |
7-87214904-CAG-TGT | c.208_210delinsACA | p.Leu70Thr | Missense | 5/29 | - | 1 |
7-87214905-A-C | c.209T>G | p.Leu70Arg | Missense | 5/29 | - | 1 |
7-87214907-CAT-TGT | c.206_207delinsCA | p.Met69Thr | Missense | 5/29 | - | 2 |
7-87214908-A-C | c.206T>G | p.Met69Arg | Missense | 5/29 | - | 2 |
7-87214910-CAT-TGT | c.203_204delinsCA | p.Met68Thr | Missense | 5/29 | - | 2 |
7-87214911-A-C | c.203T>G | p.Met68Arg | Missense | 5/29 | - | 3 |
7-87214914-A-C | c.200T>G | p.Leu67Arg | Missense | 5/29 | - | 1 |
7-87214914-AG-TG | c.200delinsA | p.Leu67His | Missense | 5/29 | - | 1 |
7-87214917-G-C | c.197C>G | p.Pro66Arg | Missense | 5/29 | - | 1 |
7-87214917-GG-TG | c.197delinsA | p.Pro66His | Missense | 5/29 | - | 1 |
7-87214918-G-C | c.196C>G | p.Pro66Ala | Missense | 5/29 | - | 1 |
7-87214920-A-C | c.194T>G | p.Leu65Arg | Missense | 5/29 | - | 3 |
7-87214920-AG-TG | c.194delinsA | p.Leu65His | Missense | 5/29 | - | 6 |
7-87214922-TCC-TGT | c.190_191delinsAC | p.Gly64Thr | Missense | 5/29 | - | 1 |
7-87214924-C-G | c.190G>C | p.Gly64Arg | Missense | 5/29 | - | 2 |
7-87214924-C-T | c.190G>A | p.Gly64Arg | Missense | 5/29 | - | 2 |
7-87214925-A-C | c.189T>G | p.Ala63Ala | Synonymous | 5/29 | - | 1 |
7-87214925-A-G | c.189T>C | p.Ala63Ala | Synonymous | 5/29 | - | 1 |
7-87214925-A-T | c.189T>A | p.Ala63Ala | Synonymous | 5/29 | - | 1 |
7-87214926-GC-CG | c.187_188delinsCG | p.Ala63Arg | Missense | 5/29 | - | 1 |
7-87214926-GC-TG | c.187_188delinsCA | p.Ala63His | Missense | 5/29 | - | 1 |
7-87214928-CCC-TGT | c.184_186delinsACA | p.Gly62Thr | Missense | 5/29 | - | 1 |
7-87214930-C-G | c.184G>C | p.Gly62Arg | Missense | 5/29 | - | 1 |
7-87214930-C-T | c.184G>A | p.Gly62Arg | Missense | 5/29 | - | 1 |
7-87214932-T-C | c.182A>G | p.His61Arg | Missense | 5/29 | - | 2 |
7-87214934-GA-GG | c.179delinsC | p.Ile60Thr | Missense | 5/29 | - | 1 |
7-87214935-AT-TG | c.178_179delinsCA | p.Ile60His | Missense | 5/29 | - | 1 |
7-87214937-GA-GG | c.176delinsC | p.Ile59Thr | Missense | 5/29 | - | 1 |
7-87214938-AT-TG | c.175_176delinsCA | p.Ile59His | Missense | 5/29 | - | 1 |
7-87214941-GC-CG | c.172_173delinsCG | p.Ala58Arg | Missense | 5/29 | - | 1 |
7-87214941-GC-TG | c.172_173delinsCA | p.Ala58His | Missense | 5/29 | - | 1 |
7-87214944-GC-CG | c.169_170delinsCG | p.Ala57Arg | Missense | 5/29 | - | 1 |
7-87214944-GC-TG | c.169_170delinsCA | p.Ala57His | Missense | 5/29 | - | 1 |
7-87214946-CA-GT | c.167_168delinsAC | p.Leu56Tyr | Missense | 5/29 | - | 1 |
7-87214947-AA-AG | c.166delinsC | p.Leu56Leu | Missense | 5/29 | - | 1 |
7-87214949-AG-GG | c.165delinsC | p.Thr55Thr | Missense | 5/29 | - | 1 |
7-87214950-GT-TG | c.163_164delinsCA | p.Thr55His | Missense | 5/29 | - | 1 |
7-87214952-TCC-TGT | c.160_161delinsAC | p.Gly54Thr | Missense | 5/29 | - | 1 |
7-87214954-C-G | c.160G>C | p.Gly54Arg | Missense | 5/29 | - | 1 |
7-87214954-C-T | c.160G>A | p.Gly54Arg | Missense | 5/29 | - | 1 |
7-87214955-CAC-TGT | c.157_159delinsACA | p.Val53Thr | Missense | 5/29 | - | 1 |
7-87214956-AC-AG | c.157delinsC | p.Val53Leu | Missense | 5/29 | - | 1 |
7-87214958-CAC-TGT | c.154_156delinsACA | p.Val52Thr | Missense | 5/29 | - | 1 |
7-87214959-AC-AG | c.154delinsC | p.Val52Leu | Missense | 5/29 | - | 1 |
7-87214961-CAT-TGT | c.152_153delinsCA | p.Met51Thr | Missense | 5/29 | - | 1 |
7-87214989-T-C | c.125A>G | p.Tyr42Cys | Missense | 5/29 | - | 1 |
7-87214993-G-A | c.121C>T | p.Arg41Cys | Missense | 5/29 | - | 1 |
7-87214994-A-G | c.120T>C | p.Phe40Phe | Synonymous | 5/29 | - | 1 |
7-87215114-A-C | c.118-118T>G | - | IntronicSNV | - | 4/28 | 4 |
7-87215304-G-A | c.118-308C>T | - | IntronicSNV | - | 4/28 | 1 |
7-87216150-G-A | c.118-1154C>T | - | IntronicSNV | - | 4/28 | 3 |
7-87216817-G-A | c.118-1821C>T | - | IntronicSNV | - | 4/28 | 7 |
7-87216817-G-T | c.118-1821C>A | - | IntronicSNV | - | 4/28 | 7 |
7-87217215-T-A | c.118-2219A>T | - | IntronicSNV | - | 4/28 | 1 |
7-87217215-T-C | c.118-2219A>G | - | IntronicSNV | - | 4/28 | 1 |
7-87218347-A-G | c.118-3351T>C | - | IntronicSNV | - | 4/28 | 2 |
7-87218347-A-T | c.118-3351T>A | - | IntronicSNV | - | 4/28 | 2 |
7-87219481-G-A | c.118-4485C>T | - | IntronicSNV | - | 4/28 | 3 |
7-87219481-G-C | c.118-4485C>G | - | IntronicSNV | - | 4/28 | 3 |
7-87220334-T-A | c.117+4748A>T | - | IntronicSNV | - | 4/28 | 3 |
7-87220334-T-C | c.117+4748A>G | - | IntronicSNV | - | 4/28 | 3 |
7-87220562-C-T | c.117+4520G>A | - | IntronicSNV | - | 4/28 | 3 |
7-87220886-A-G | c.117+4196T>C | - | IntronicSNV | - | 4/28 | 26 |
7-87221216-A-G | c.117+3866T>C | - | IntronicSNV | - | 4/28 | 6 |
7-87221798-C-A | c.117+3284G>T | - | IntronicSNV | - | 4/28 | 1 |
7-87224251-C-T | c.117+831G>A | - | IntronicSNV | - | 4/28 | 2 |
7-87224429-A-G | c.117+653T>C | - | IntronicSNV | - | 4/28 | 1 |
7-87224948-C-G | c.117+134G>C | - | IntronicSNV | - | 4/28 | 1 |
7-87225046-G-A | c.117+36C>T | - | IntronicSNV | - | 4/28 | 2 |
7-87225088-A-C | c.111T>G | p.Phe37Leu | Missense | 4/29 | - | 1 |
7-87225088-A-T | c.111T>A | p.Phe37Leu | Missense | 4/29 | - | 1 |
7-87225090-A-G | c.109T>C | p.Phe37Leu | Missense | 4/29 | - | 1 |
7-87225098-A-G | c.101T>C | p.Val34Ala | Missense | 4/29 | - | 1 |
7-87225099-C-G | c.100G>C | p.Val34Leu | Missense | 4/29 | - | 1 |
7-87225119-T-A | c.80A>T | p.Lys27Met | Missense | 4/29 | - | 4 |
7-87225206-G-T | c.69-76C>A | - | IntronicSNV | - | 3/28 | 2 |
7-87229006-T-C | c.68+427A>G | - | IntronicSNV | - | 3/28 | 1 |
7-87229025-C-T | c.68+408G>A | - | IntronicSNV | - | 3/28 | 2 |
7-87229440-T-A | c.61A>T | p.Asn21Tyr | Missense | 3/29 | - | 33 |
7-87229440-T-C | c.61A>G | p.Asn21Asp | Missense | 3/29 | - | 46 |
7-87229440-T-G | c.61A>C | p.Asn21His | Missense | 3/29 | - | 33 |
7-87229450-A-G | c.51T>C | p.Phe17Phe | Synonymous | 3/29 | - | 2 |
7-87229458-T-C | c.43A>G | p.Asn15Asp | Missense | 3/29 | - | 1 |
7-87229468-TG-AC | c.32_33delinsGT | p.Ala11Gly | Missense | 3/29 | - | 1 |
7-87229495-GATC-G | c.4_6del | p.Asp2del | InFrameDeletion | 3/29 | - | 1 |
7-87229501-T-A | c.-1A>T | - | 5-UTRSNV | 3/29 | - | 8 |
7-87229501-T-C | c.-1A>G | - | 5-UTRSNV | 3/29 | - | 8 |
7-87229686-A-C | c.-6-180T>G | - | IntronicSNV | - | 2/28 | 1 |
7-87229931-G-T | c.-7+140C>A | - | intron_variant | - | 2/28 | 1 |
7-87230107-T-C | c.-43A>G | - | 5_prime_UTR_variant | 2/29 | - | 1 |
7-87230193-A-G | c.-129T>C | - | 5_prime_UTR_variant | 2/29 | - | 37 |
7-87230305-C-T | c.-241G>A | - | 5_prime_UTR_variant | 2/29 | - | 1 |
7-87230435-T-C | c.-330-41A>G | - | intron_variant | - | 1/28 | 5 |
7-87230454-T-A | c.-330-60A>T | - | intron_variant | - | 1/28 | 1 |
7-87230454-T-C | c.-330-60A>G | - | intron_variant | - | 1/28 | 1 |
7-87230462-C-G | c.-330-68G>C | - | intron_variant | - | 1/28 | 1 |
7-87230462-C-T | c.-330-68G>A | - | intron_variant | - | 1/28 | 1 |
7-87230514-T-A | c.-330-684A>T | - | IntronicSNV | - | 1/28 | 1 |
7-87230525-T-C | c.-330-131A>G | - | intron_variant | - | 1/28 | 1 |
7-87230617-G-A | c.-330-223C>T | - | intron_variant | - | 1/28 | 1 |
7-87230654-A-G | c.-330-824T>C | - | IntronicSNV | - | 1/28 | 1 |
7-87230668-C-T | c.-330-274G>A | - | intron_variant | - | 1/28 | 1 |
7-87230691-T-C | c.-330-297A>G | - | intron_variant | - | 1/28 | 1 |
7-87230847-A-G | c.-330-1017T>C | - | IntronicSNV | - | 1/28 | 1 |
7-87230890-C-A | c.-330-496G>T | - | intron_variant | - | 1/28 | 1 |
7-87230890-C-T | c.-330-496G>A | - | intron_variant | - | 1/28 | 1 |
7-87231467-G-T | c.-330-1073C>A | - | intron_variant | - | 1/28 | 1 |
7-87231551-C-G | c.-330-1157G>C | - | intron_variant | - | 1/28 | 1 |
7-87231551-C-T | c.-330-1157G>A | - | intron_variant | - | 1/28 | 1 |
7-87231561-G-A | c.-330-1167C>T | - | intron_variant | - | 1/28 | 1 |
7-87231754-G-A | c.-330-1360C>T | - | intron_variant | - | 1/28 | 1 |
7-87231853-C-T | c.-330-1459G>A | - | intron_variant | - | 1/28 | 4 |
7-87231897-T-C | c.-330-1503A>G | - | intron_variant | - | 1/28 | 1 |
7-87231911-A-G | c.-330-1517T>C | - | intron_variant | - | 1/28 | 2 |
7-87231966-T-A | c.-330-1572A>T | - | intron_variant | - | 1/28 | 1 |
7-87233038-G-A | c.-330-3208C>T | - | IntronicSNV | - | 1/28 | 14 |
7-87233485-T-A | c.-330-3655A>T | - | IntronicSNV | - | 1/28 | 7 |
7-87233485-T-C | c.-330-3655A>G | - | IntronicSNV | - | 1/28 | 7 |
7-87244960-C-T | c.-330-14566G>A | - | intron_variant | - | 1/28 | 8 |
7-87251641-A-G | c.-330-21247T>C | - | intron_variant | - | 1/28 | 4 |
7-87256602-T-C | c.-330-26208A>G | - | intron_variant | - | 1/28 | 1 |
7-87257840-G-A | c.-330-28010C>T | - | IntronicSNV | - | 1/28 | 1 |
7-87261736-T-C | c.-330-31342A>G | - | intron_variant | - | 1/28 | 3 |
7-87262581-G-A | c.-330-32187C>T | - | intron_variant | - | 1/28 | 6 |
7-87270500-T-A | c.-330-40106A>T | - | intron_variant | - | 1/28 | 5 |
7-87271274-A-G | c.-330-41444T>C | - | IntronicSNV | - | 1/28 | 2 |
7-87274543-C-T | c.-330-44713G>A | - | IntronicSNV | - | 1/28 | 1 |
7-87275641-A-G | c.-330-45247T>C | - | intron_variant | - | 1/28 | 2 |
7-87278760-G-A | c.-330-48366C>T | - | intron_variant | - | 1/28 | 4 |
7-87297189-C-T | c.-331+45288G>A | - | intron_variant | - | 1/28 | 1 |
7-87298868-A-G | c.-331+43609T>C | - | intron_variant | - | 1/28 | 1 |
7-87298868-A-T | c.-331+43609T>A | - | intron_variant | - | 1/28 | 1 |
7-87302140-A-G | c.-331+40337T>C | - | intron_variant | - | 1/28 | 1 |
7-87315881-G-A | c.-331+26596C>T | - | intron_variant | - | 1/28 | 1 |
7-87324386-G-A | c.-331+18091C>T | - | intron_variant | - | 1/28 | 1 |
7-87326125-T-G | c.-331+16352A>C | - | intron_variant | - | 1/28 | 1 |
7-87330101-A-T | c.-331+12376T>A | - | intron_variant | - | 1/28 | 2 |
7-87330423-G-A | c.-331+12054C>T | - | intron_variant | - | 1/28 | 1 |
7-87331316-A-G | c.-331+11161T>C | - | intron_variant | - | 1/28 | 1 |
7-87331965-T-C | c.-331+10512A>G | - | intron_variant | - | 1/28 | 1 |
7-87331965-T-G | c.-331+10512A>C | - | intron_variant | - | 1/28 | 1 |
7-87334841-T-C | c.-331+7636A>G | - | intron_variant | - | 1/28 | 1 |
7-87342586-A-C | c.-440T>G | - | 5_prime_UTR_variant | 1/29 | - | 1 |
7-87342586-A-G | c.-440T>C | - | 5_prime_UTR_variant | 1/29 | - | 1 |