Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-51748296-C-T c.-180C>T 5_prime_UTR_premature_start_codon_gain AGAP6 1 68612 1.45747E-5 34306 0 6.37959E-5
10-51748314-C-T c.-162C>T 5_prime_UTR_premature_start_codon_gain AGAP6 2 72508 2.75832E-5 36254 0 NA
10-51748341-C-T c.-135C>T 5_prime_UTR_premature_start_codon_gain AGAP6 3 75298 3.98417E-5 37649 0 1.27397E-4
10-51748510-G-A p.Ser12Asn missense AGAP6 18 78194 2.30197E-4 39097 1 0.00125934
10-51748511-C-G p.Ser12Arg missense AGAP6 3 78068 3.8428E-5 39034 0 0.00378609
10-51748512-G-T p.Val13Phe missense AGAP6 1 78512 1.27369E-5 39256 0 9.18864E-6
10-51748512-G-A p.Val13Ile missense AGAP6 2 78510 2.54745E-5 39255 0 6.75858E-5
10-51748520-C-T p.Leu15Leu synonymous AGAP6 1 79234 1.26208E-5 39617 0 3.4146E-5
10-51748521-G-A p.Glu16Lys missense AGAP6 3 79324 3.78196E-5 39662 0 4.52964E-6
10-51748523-G-T p.Glu16Asp missense AGAP6 1 79514 1.25764E-5 39757 0 NA
10-51748528-A-AC p.Gln19fs frameshift AGAP6 3301 59486 0.055492 29743 1 0.16099
10-51748533-C-T p.Gln20* stop_gained AGAP6 1 79922 1.25122E-5 39961 0 NA
10-51748543-C-T p.Ser23Leu missense AGAP6 4 80276 4.98281E-5 40138 0 3.37016E-4
10-51748544-G-A p.Ser23Ser synonymous AGAP6 1 80376 1.24415E-5 40188 0 3.23771E-5
10-51748563-G-C p.Glu30Gln missense AGAP6 2 80922 2.47152E-5 40461 0 4.66857E-5
10-51748570-A-G p.Tyr32Cys missense AGAP6 1 80994 1.23466E-5 40497 0 3.55733E-5
10-51748584-A-G p.Arg37Gly missense AGAP6 1045 46840 0.02231 23420 0 0.306393
10-51748585-G-C p.Arg37Thr missense AGAP6 1 81146 1.23235E-5 40573 0 NA
10-51748596-G-T p.Ala41Ser missense AGAP6 1 81144 1.23238E-5 40572 0 4.20525E-6
10-51748596-G-A p.Ala41Thr missense AGAP6 1 81144 1.23238E-5 40572 0 NA
10-51748597-C-T p.Ala41Val missense AGAP6 1 81138 1.23247E-5 40569 0 4.20844E-6
10-51748603-C-T p.Ala43Val missense AGAP6 7 81064 8.63515E-5 40532 0 0.00109051
10-51748604-G-A p.Ala43Ala synonymous AGAP6 7 81116 8.62962E-5 40558 0 7.83385E-5
10-51748609-T-C p.Met45Thr missense AGAP6 1 81202 1.2315E-5 40601 0 8.68598E-6
10-51748615-C-G p.Ala47Gly missense AGAP6 1 81110 1.23289E-5 40555 0 3.25076E-5
10-51748622-A-G p.Val49Val synonymous AGAP6 8 81138 9.85975E-5 40569 0 5.4407E-4
10-51748633-A-G p.Glu53Gly missense AGAP6 1 81218 1.23125E-5 40609 0 NA
10-51748659-C-T p.Leu62Phe missense AGAP6 199 77140 0.00257973 38570 0 0.0293882
10-51748673-C-G p.His66Gln missense AGAP6 2 81516 2.45351E-5 40758 0 0.00375
10-51748674-G-A p.Val67Ile missense AGAP6 6 81650 7.34844E-5 40825 0 2.80203E-4
10-51748677-C-T p.Arg68Cys missense AGAP6 2 81734 2.44696E-5 40867 0 8.36638E-6
10-51748681-AC-A p.Arg70fs frameshift AGAP6 1754 77808 0.0225427 38904 30 0.0799273
10-51748683-C-T p.Arg70Trp missense AGAP6 3 81916 3.66229E-5 40958 0 7.58668E-5
10-51748684-G-A p.Arg70Gln missense AGAP6 11076 41682 0.265726 20841 2441 0.457302
10-51748695-G-C p.Glu74Gln missense AGAP6 1 82260 1.21566E-5 41130 0 7.88958E-5
10-51748701-G-A c.223+3G>A splice_region AGAP6 25 81656 3.06162E-4 40828 0 0.00505842
10-51749061-C-T c.224-7C>T splice_region AGAP6 8 80852 9.89462E-5 40426 0 2.86789E-4
10-51749065-T-A c.224-3T>A splice_region AGAP6 10 80848 1.23689E-4 40424 0 5.82387E-4
10-51749081-C-G p.Asn79Lys missense AGAP6 3 80858 3.71021E-5 40429 0 3.18593E-5
10-51749088-G-A p.Ala82Thr missense AGAP6 3 80856 3.7103E-5 40428 0 3.87927E-4
10-51749092-A-G p.Asn83Ser missense AGAP6 1 80858 1.23674E-5 40429 0 8.50818E-6
10-51749100-T-G p.Ser86Ala missense AGAP6 1 80838 1.23704E-5 40419 0 6.00962E-4
10-51749105-C-T p.Ser87Ser synonymous AGAP6 2 80858 2.47347E-5 40429 0 8.49098E-6
10-51749114-C-T p.Phe90Phe synonymous AGAP6 2 80856 2.47353E-5 40428 0 NA
10-51749135-A-T p.Glu97Asp missense+splice_region AGAP6 1 80874 1.23649E-5 40437 0 6.36983E-5
10-51751430-A-G c.224-6A>G splice_region AGAP6 33 80908 4.07871E-4 40454 0 0.00159541
10-51751434-A-G c.224-2A>G splice_acceptor AGAP6 1 80968 1.23506E-5 40484 0 1.71016E-5
10-51751442-A-C p.Glu77Ala missense AGAP6 3 81040 3.70188E-5 40520 0 NA
10-51751456-G-A p.Ala82Thr missense AGAP6 12 81058 1.48042E-4 40529 0 7.84245E-5
10-51751477-A-G p.Ile89Val missense AGAP6 3 81092 3.6995E-5 40546 0 1.59429E-4
10-51751502-A-G p.Asp97Gly missense+splice_region AGAP6 3 81006 3.70343E-5 40503 0 2.53571E-5
10-51751509-G-A c.292+5G>A splice_region AGAP6 5 80986 6.17391E-5 40493 0 4.61216E-5
10-51751511-C-T c.292+7C>T splice_region AGAP6 3 80974 3.70489E-5 40487 0 3.86324E-4
10-51754152-T-C c.293-3T>C splice_region AGAP6 1 80082 1.24872E-5 40041 0 NA
10-51754167-G-T p.Arg102Ile missense AGAP6 1 80288 1.24552E-5 40144 0 3.45334E-5
10-51754171-A-C p.Arg103Ser missense AGAP6 2 80300 2.49066E-5 40150 0 6.92509E-5
10-51754173-G-A p.Ser104Asn missense AGAP6 28 80268 3.48831E-4 40134 1 0.0033557
10-51754193-A-C c.327+4A>C splice_region AGAP6 1 80410 1.24363E-5 40205 0 3.20184E-5
10-51761815-C-T p.Asp129Asp synonymous AGAP6 1 81216 1.23128E-5 40608 0 0.001875
10-51767787-A-C p.Asp156Ala missense+splice_region AGAP6 1 80782 1.2379E-5 40391 0 1.21144E-5
10-51767826-A-G p.His169Arg missense AGAP6 1 80830 1.23716E-5 40415 0 8.51586E-6
10-51767827-C-T p.His169His synonymous AGAP6 1 80828 1.2372E-5 40414 0 NA
10-51767834-G-C p.Ala172Pro missense+splice_region AGAP6 1 80826 1.23723E-5 40413 0 NA
10-51767836-G-A p.Ala172Ala splice_region+synonymous AGAP6 4 80782 4.9516E-5 40391 0 2.86789E-4
10-51769337-C-A p.Thr461Thr synonymous AGAP6 1 81976 1.21987E-5 40988 0 5.35906E-4
10-51769361-G-C p.Leu469Phe missense AGAP6 1 82988 1.20499E-5 41494 0 NA
10-51769365-T-C p.Leu471Leu synonymous AGAP6 3 83074 3.61124E-5 41537 0 9.57488E-5
10-51769373-C-A p.Val473Val synonymous AGAP6 1 83208 1.20181E-5 41604 0 8.37647E-6
10-51769377-A-G p.Met475Val missense AGAP6 17 83228 2.04258E-4 41614 0 6.68918E-4
10-51769380-T-C p.Cys476Arg missense AGAP6 1 83264 1.201E-5 41632 0 NA
10-51769392-TCAGGTA-T p.Ser480_Ile482delinsPhe disruptive_inframe_deletion AGAP6 42 83260 5.04444E-4 41630 0 2.86606E-4
10-51769399-T-TGGCCC p.Ile482fs frameshift AGAP6 52 83298 6.24265E-4 41649 0 2.86588E-4
10-51769402-A-G p.His483Arg missense AGAP6 1 83370 1.19947E-5 41685 0 NA
10-51769404-C-T p.Arg484Cys missense AGAP6 7 83376 8.3957E-5 41688 0 1.31241E-4
10-51769404-C-CTTTCCCGTGT p.Arg484fs frameshift AGAP6 46 83300 5.52221E-4 41650 0 2.86551E-4
10-51769405-G-T p.Arg484Leu missense AGAP6 2 83378 2.39871E-5 41689 0 3.18776E-5
10-51769405-G-A p.Arg484His missense AGAP6 1 83378 1.19936E-5 41689 0 5.16993E-5
10-51769407-A-G p.Ser485Gly missense AGAP6 13 83244 1.56167E-4 41622 0 0.00625
10-51769408-G-C p.Ser485Thr missense AGAP6 45 83366 5.39788E-4 41683 0 4.49483E-4
10-51769408-G-A p.Ser485Asn missense AGAP6 27 83274 3.24231E-4 41637 0 0.00625
10-51769414-G-GC p.His489fs frameshift AGAP6 6 83400 7.19424E-5 41700 0 1.91046E-4
10-51769417-C-T p.Pro488Leu missense AGAP6 1 83396 1.1991E-5 41698 0 NA
10-51769421-C-G p.His489Gln missense AGAP6 2 83394 2.39825E-5 41697 0 1.65145E-5
10-51769422-C-T p.Leu490Phe missense AGAP6 1 83392 1.19916E-5 41696 0 3.97681E-6
10-51769428-C-T p.Arg492Cys missense AGAP6 1 83380 1.19933E-5 41690 0 4.12984E-5
10-51769429-G-A p.Arg492His missense AGAP6 27 83376 3.23834E-4 41688 0 4.77829E-4
10-51769434-C-T p.Arg494* stop_gained AGAP6 5 83378 5.99679E-5 41689 0 6.37024E-5
10-51769435-G-A p.Arg494Gln missense AGAP6 1 83378 1.19936E-5 41689 0 1.65297E-5
10-51769439-T-C p.Ser495Ser synonymous AGAP6 14 83368 1.6793E-4 41684 0 1.57074E-4
10-51769457-G-C p.Trp501Cys missense AGAP6 2 83318 2.40044E-5 41659 0 1.68452E-5
10-51769461-G-A p.Val503Ile missense AGAP6 48 83300 5.7623E-4 41650 0 0.00159246
10-51769480-T-G p.Met509Arg missense AGAP6 1 83076 1.20372E-5 41538 0 2.40834E-5
10-51769488-A-C p.Ile512Leu missense AGAP6 10 82910 1.20613E-4 41455 1 0.00105932
10-51769506-A-G p.Asn518Asp missense AGAP6 1 82476 1.21247E-5 41238 0 NA
10-51769512-A-G p.Ile520Val missense AGAP6 2 82390 2.42748E-5 41195 0 4.02136E-6
10-51769514-C-G p.Ile520Met missense AGAP6 1 82356 1.21424E-5 41178 0 8.47242E-6
10-51769535-G-A p.Gly527Gly synonymous AGAP6 2 81834 2.44397E-5 40917 0 6.83269E-5
10-51769552-A-G p.Glu533Gly missense AGAP6 1 81358 1.22914E-5 40679 0 NA
10-51769553-A-AT p.Lys534fs frameshift AGAP6 2 81330 2.45912E-5 40665 0 3.26264E-5
10-51769555-A-T p.Lys534Met missense AGAP6 1 81310 1.22986E-5 40655 0 8.66942E-6
10-51769560-A-G p.Thr536Ala missense AGAP6 1 81016 1.23432E-5 40508 0 3.27268E-5
10-51769562-G-A p.Thr536Thr synonymous AGAP6 1657 76610 0.021629 38305 34 0.0832787
10-51769568-A-G p.Glu538Glu synonymous AGAP6 1 80456 1.24292E-5 40228 0 NA
10-51769578-C-G p.Arg542Gly missense AGAP6 2 79942 2.50181E-5 39971 0 1.93278E-4
10-51769578-C-T p.Arg542Trp missense AGAP6 1 79946 1.25084E-5 39973 0 0.00108578
10-51769579-G-A p.Arg542Gln missense AGAP6 1175 74528 0.0157659 37264 11 0.0494299
10-51769587-C-A p.Arg545Ser missense AGAP6 1 78946 1.26669E-5 39473 0 NA
10-51769596-TATG-T p.Tyr548_Glu549delinsTer stop_gained AGAP6 2 78252 2.55585E-5 39126 0 NA
10-51769598-T-C p.Tyr548Tyr synonymous AGAP6 1 78136 1.27982E-5 39068 0 3.52631E-5
10-51769670-C-T p.Thr572Thr synonymous AGAP6 47 70834 6.63523E-4 35417 0 0.0835279
10-51769746-G-T p.Glu598* stop_gained AGAP6 1 74734 1.33808E-5 37367 0 0.0292757
10-51769799-C-A p.Val615Val synonymous AGAP6 3 59852 5.01236E-5 29926 0 0.0855566
10-51769799-C-T p.Val615Val synonymous AGAP6 9 41358 2.17612E-4 20679 1 0.243421