Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-44286407-T-C p.Thr411Thr synonymous ALX4 1 81974 1.2199E-5 40987 0 NA
11-44286409-T-C p.Thr411Ala missense ALX4 1 82012 1.21933E-5 41006 0 NA
11-44286413-C-T p.Trp409* stop_gained ALX4 2 82070 2.43694E-5 41035 0 1.70582E-5
11-44286422-G-A p.Ala406Ala synonymous ALX4 1 82210 1.2164E-5 41105 0 1.69857E-5
11-44286425-C-T p.Ala405Ala synonymous ALX4 1 82244 1.21589E-5 41122 0 3.18715E-5
11-44286426-G-T p.Ala405Glu missense ALX4 1 82246 1.21586E-5 41123 0 6.40077E-5
11-44286434-C-T p.Glu402Glu synonymous ALX4 2 82374 2.42795E-5 41187 0 6.37186E-5
11-44286446-C-T p.Met398Ile missense ALX4 1 82444 1.21294E-5 41222 0 1.19834E-5
11-44286449-G-A p.Arg397Arg synonymous ALX4 1 82472 1.21253E-5 41236 0 NA
11-44286450-C-T p.Arg397His missense ALX4 2 82446 2.42583E-5 41223 0 3.37046E-5
11-44286457-C-T p.Ala395Thr missense ALX4 1 82480 1.21242E-5 41240 0 NA
11-44286458-C-T p.Ala394Ala synonymous ALX4 68 82496 8.24282E-4 41248 2 0.00553877
11-44286459-G-A p.Ala394Val missense ALX4 3 82488 3.63689E-5 41244 0 1.19864E-5
11-44286460-C-T p.Ala394Thr missense ALX4 8 82496 9.69744E-5 41248 0 1.27494E-4
11-44286468-G-A p.Ser391Leu missense ALX4 1 82568 1.21112E-5 41284 0 NA
11-44286477-C-T p.Arg388His missense ALX4 3 82546 3.63434E-5 41273 0 1.19933E-5
11-44286478-G-A p.Arg388Cys missense ALX4 1 82566 1.21115E-5 41283 0 1.67757E-5
11-44286480-T-C p.Asp387Gly missense ALX4 1 82552 1.21136E-5 41276 0 NA
11-44286482-C-T p.Pro386Pro synonymous ALX4 1 82524 1.21177E-5 41262 0 1.25828E-4
11-44286484-G-C p.Pro386Ala missense ALX4 2 82500 2.42424E-5 41250 0 1.6774E-5
11-44286487-C-G p.Glu385Gln missense ALX4 4 82498 4.8486E-5 41249 0 1.67678E-5
11-44286490-C-T p.Gly384Ser missense ALX4 1 82466 1.21262E-5 41233 0 4.19119E-5
11-44286491-G-A p.Asn383Asn synonymous ALX4 11 82436 1.33437E-4 41218 0 0.00100806
11-44286497-C-T p.Glu381Glu synonymous ALX4 1 82462 1.21268E-5 41231 0 1.59921E-5
11-44286498-T-C p.Glu381Gly missense ALX4 1 82462 1.21268E-5 41231 0 8.37507E-6
11-44286500-G-A p.Tyr380Tyr synonymous ALX4 4 82448 4.85154E-5 41224 0 4.79866E-5
11-44286518-G-T p.Ser374Arg missense ALX4 1 82506 1.21203E-5 41253 0 NA
11-44286523-G-A p.Leu373Phe missense ALX4 95 82486 0.00115171 41243 0 0.00200739
11-44286528-G-T p.Ala371Asp missense ALX4 1 82430 1.21315E-5 41215 0 8.36526E-6
11-44286534-C-T p.Gly369Glu missense ALX4 7 82386 8.49659E-5 41193 0 6.11516E-4
11-44286541-G-C p.Leu367Val missense ALX4 1 82386 1.2138E-5 41193 0 NA
11-44286544-T-A p.Ser366Cys missense ALX4 1 82340 1.21448E-5 41170 0 3.18756E-5
11-44286545-G-T p.Gly365Gly synonymous ALX4 2 82320 2.42954E-5 41160 0 5.86422E-5
11-44286550-T-A p.Met364Leu missense ALX4 3 82270 3.64653E-5 41135 0 NA
11-44286551-G-T p.His363Gln missense ALX4 6 82262 7.29377E-5 41131 0 NA
11-44286554-C-T p.Thr362Thr synonymous ALX4 2 82166 2.4341E-5 41083 0 3.3543E-5
11-44286554-C-A p.Thr362Thr synonymous ALX4 1 82166 1.21705E-5 41083 0 4.8038E-5
11-44286555-G-A p.Thr362Met missense ALX4 54 82190 6.57014E-4 41095 0 0.00100806
11-44286566-G-A p.His358His synonymous ALX4 26358 81762 0.322375 40881 4603 0.373245
11-44286566-G-C p.His358Gln missense ALX4 1 82134 1.21752E-5 41067 0 NA
11-44286571-T-C p.Ser357Gly missense ALX4 2 82188 2.43345E-5 41094 0 5.04032E-4
11-44286574-C-T p.Gly356Ser missense ALX4 2 82192 2.43333E-5 41096 0 NA
11-44286576-G-T p.Ala355Asp missense ALX4 7 82190 8.51685E-5 41095 0 8.00698E-6
11-44286578-C-T p.Gly354Gly synonymous ALX4 1 82188 1.21672E-5 41094 0 8.44352E-6
11-44286587-A-G p.Ser351Ser synonymous ALX4 2 82166 2.4341E-5 41083 0 4.00442E-6
11-44286592-G-A p.Leu350Leu synonymous ALX4 1 82158 1.21717E-5 41079 0 4.00647E-6
11-44286598-C-T p.Asp348Asn missense ALX4 1 82066 1.21853E-5 41033 0 7.62269E-5
11-44286604-C-T p.Val346Ile missense ALX4 3 82028 3.65729E-5 41014 0 5.12173E-5
11-44286605-G-A p.Ser345Ser synonymous ALX4 68 81994 8.29329E-4 40997 0 6.37064E-4
11-44286622-CA-C p.Gly340fs frameshift ALX4 1 81732 1.22351E-5 40866 0 NA
11-44286628-G-T p.Pro338Thr missense ALX4 1 81702 1.22396E-5 40851 0 3.18532E-5
11-44286628-G-C p.Pro338Ala missense ALX4 1 81702 1.22396E-5 40851 0 NA
11-44286629-G-T p.His337Gln missense ALX4 1 81650 1.22474E-5 40825 0 8.64738E-6
11-44286629-G-A p.His337His synonymous ALX4 1 81650 1.22474E-5 40825 0 4.02907E-6
11-44286639-G-A p.Pro334Leu missense ALX4 6 81522 7.35998E-5 40761 0 2.01631E-5
11-44286648-C-T p.Cys331Tyr missense ALX4 1 81250 1.23077E-5 40625 0 1.21341E-5
11-44286659-C-T p.Pro327Pro synonymous ALX4 3 80658 3.71941E-5 40329 0 5.33021E-5
11-44286660-G-A p.Pro327Leu missense ALX4 3 80730 3.71609E-5 40365 0 6.50132E-5
11-44286664-C-T p.Asp326Asn missense ALX4 22 80498 2.73299E-4 40249 0 9.57488E-5
11-44286668-G-A p.Pro324Pro synonymous ALX4 17 80416 2.11401E-4 40208 0 1.01665E-4
11-44286677-G-A p.Cys321Cys synonymous ALX4 5 79572 6.28362E-5 39786 0 0.00125
11-44286680-G-A p.Ala320Ala synonymous ALX4 2 79434 2.51781E-5 39717 0 0.00100908
11-44286693-G-A p.Ser316Leu missense ALX4 1 78394 1.27561E-5 39197 0 9.50263E-6
11-44286697-C-G p.Ala315Pro missense ALX4 1 77878 1.28406E-5 38939 0 4.14487E-6
11-44286699-G-A p.Ala314Val missense ALX4 1 77408 1.29186E-5 38704 0 NA
11-44286700-C-A p.Ala314Ser missense ALX4 4 77310 5.17397E-5 38655 0 6.38447E-5
11-44286701-C-T p.Gly313Gly synonymous ALX4 7 77184 9.06924E-5 38592 0 0.00101112
11-44286704-G-A p.Asn312Asn synonymous ALX4 8 76678 1.04332E-4 38339 0 1.38378E-4
11-44286713-G-A p.Leu309Leu synonymous ALX4 3 75320 3.98301E-5 37660 0 2.10429E-5
11-44286717-C-A p.Trp308Leu missense ALX4 1 74678 1.33908E-5 37339 0 NA
11-44286722-C-T p.Pro306Pro synonymous ALX4 190 73324 0.00259124 36662 2 0.00731022
11-44286722-C-G p.Pro306Pro synonymous ALX4 2 73358 2.72636E-5 36679 0 8.48061E-6
11-44286723-G-A p.Pro306Leu missense ALX4 32 72948 4.38669E-4 36474 0 4.78652E-4
11-44286738-G-T c.907-5C>A splice_region ALX4 1 69660 1.43554E-5 34830 0 NA
11-44286740-G-C c.907-7C>G splice_region ALX4 2 69086 2.89494E-5 34543 0 NA
11-44289037-G-C c.906+7C>G splice_region ALX4 2 83136 2.4057E-5 41568 0 NA
11-44289038-A-G c.906+6T>C splice_region ALX4 1 83086 1.20357E-5 41543 0 NA
11-44289042-A-G c.906+2T>C splice_donor ALX4 1 83156 1.20256E-5 41578 0 NA
11-44289050-G-A p.Tyr300Tyr synonymous ALX4 1 83198 1.20195E-5 41599 0 3.18634E-5
11-44289063-C-T p.Arg296Gln missense ALX4 19 83250 2.28228E-4 41625 0 5.73833E-4
11-44289064-G-A p.Arg296* stop_gained ALX4 1 83260 1.20106E-5 41630 0 NA
11-44289066-G-A p.Thr295Ile missense ALX4 1 83264 1.201E-5 41632 0 3.18715E-5
11-44289071-G-A p.Leu293Leu synonymous ALX4 8333 83088 0.100291 41544 394 0.137966
11-44289102-G-T p.Thr283Asn missense ALX4 1 83344 1.19985E-5 41672 0 6.58979E-5
11-44289104-T-G p.Arg282Arg synonymous ALX4 1 83338 1.19993E-5 41669 0 NA
11-44289105-C-T p.Arg282Gln missense ALX4 5 83336 5.99981E-5 41668 0 8.23737E-5
11-44289107-A-T p.Val281Val synonymous ALX4 1 83342 1.19988E-5 41671 0 8.2375E-6
11-44289111-T-C p.Gln280Arg missense ALX4 1 83340 1.1999E-5 41670 0 NA
11-44289119-C-G p.Gln277His missense ALX4 11 83360 1.31958E-4 41680 0 2.47129E-5
11-44289129-C-T p.Arg274His missense ALX4 4 83340 4.79962E-5 41670 0 9.56572E-5
11-44289130-G-A p.Arg274Cys missense ALX4 1 83334 1.19999E-5 41667 0 1.19293E-5
11-44289131-C-T p.Glu273Glu synonymous ALX4 1 83344 1.19985E-5 41672 0 8.23764E-6
11-44289146-C-G p.Lys268Asn missense ALX4 2 83354 2.3994E-5 41677 0 NA
11-44289158-G-A p.Asn264Asn synonymous ALX4 3 83336 3.59988E-5 41668 0 3.18573E-5
11-44289170-G-A p.Val260Val splice_region+synonymous ALX4 5 83312 6.00154E-5 41656 0 4.77194E-5
11-44289175-A-G c.778-3T>C splice_region ALX4 1 83298 1.20051E-5 41649 0 NA
11-44289177-A-G c.778-5T>C splice_region ALX4 1 83292 1.2006E-5 41646 0 1.6484E-5
11-44296895-G-A c.777+3C>T splice_region ALX4 1 82700 1.20919E-5 41350 0 8.29187E-6
11-44296904-G-A p.Arg257Arg synonymous ALX4 1 82726 1.20881E-5 41363 0 6.62405E-5
11-44296913-A-G p.Thr254Thr synonymous ALX4 1 82908 1.20616E-5 41454 0 3.97902E-6
11-44296914-G-A p.Thr254Ile missense ALX4 1 82906 1.20619E-5 41453 0 NA
11-44296926-C-G p.Arg250Thr missense ALX4 3 82976 3.6155E-5 41488 0 3.97842E-6
11-44296934-C-G p.Leu247Leu synonymous ALX4 1 83046 1.20415E-5 41523 0 3.29821E-5
11-44296944-C-T p.Arg244Gln missense ALX4 1 83054 1.20404E-5 41527 0 3.97788E-6
11-44296946-C-T p.Ala243Ala synonymous ALX4 9261 82768 0.111891 41384 557 0.169184
11-44296947-G-A p.Ala243Val missense ALX4 9 83070 1.08342E-4 41535 0 1.3524E-4
11-44296974-T-C p.Gln234Arg missense ALX4 2 83166 2.40483E-5 41583 0 NA
11-44297019-G-A p.Thr219Ile missense ALX4 1 83166 1.20241E-5 41583 0 NA
11-44297022-C-T p.Arg218Gln missense ALX4 2 83146 2.40541E-5 41573 0 1.19299E-5
11-44297028-C-T p.Arg216Gln missense ALX4 1 83164 1.20244E-5 41582 0 NA
11-44297029-G-A p.Arg216Trp missense ALX4 2 83150 2.40529E-5 41575 0 5.03525E-4
11-44297031-C-T p.Arg215Gln missense ALX4 2 83154 2.40518E-5 41577 0 1.64753E-5
11-44297032-G-T p.Arg215Arg synonymous ALX4 1 83150 1.20265E-5 41575 0 7.9533E-6
11-44297032-G-A p.Arg215Trp missense ALX4 1 83150 1.20265E-5 41575 0 8.23764E-6
11-44297043-T-G p.Lys211Thr missense ALX4 1 83120 1.20308E-5 41560 0 NA
11-44297048-G-T p.Ser209Arg missense ALX4 10 83088 1.20354E-4 41544 0 5.03525E-4
11-44297054-T-C p.Ser207Ser synonymous ALX4 82719 82986 0.996783 41493 41230 1.0
11-44297055-G-A p.Ser207Leu missense ALX4 1 83022 1.2045E-5 41511 0 0.001875
11-44297057-G-A p.Asp206Asp synonymous ALX4 3 83042 3.61263E-5 41521 0 1.91192E-4
11-44297059-C-T p.Asp206Asn missense ALX4 8 83012 9.63716E-5 41506 0 9.56023E-5
11-44297060-G-A p.Ala205Ala synonymous ALX4 7 82984 8.43536E-5 41492 0 8.74953E-5
11-44297062-C-A p.Ala205Ser missense ALX4 2 82994 2.40981E-5 41497 0 1.64813E-5
11-44297070-A-C p.Leu202Trp missense ALX4 3 82952 3.61655E-5 41476 0 9.56511E-5
11-44297079-G-A p.Pro199Leu missense ALX4 2 82892 2.41278E-5 41446 0 8.2428E-6
11-44297081-G-T p.Leu198Leu synonymous ALX4 975 82846 0.0117688 41423 11 0.0264299
11-44297084-G-A p.Asp197Asp synonymous ALX4 1 82846 1.20706E-5 41423 0 NA
11-44297097-C-T p.Arg193Gln missense ALX4 1 82826 1.20735E-5 41413 0 1.19373E-5
11-44297099-G-C p.Asp192Glu missense ALX4 1 82846 1.20706E-5 41423 0 3.18796E-5
11-44297106-G-A p.Pro190Leu missense ALX4 4 82812 4.83022E-5 41406 0 8.35848E-5
11-44297106-G-T p.Pro190His missense ALX4 2 82810 2.41517E-5 41405 0 3.18715E-5
11-44297114-C-A p.Val187Val synonymous ALX4 2 82904 2.41243E-5 41452 0 1.65071E-5
11-44297128-T-C p.Lys183Glu missense ALX4 10 82996 1.20488E-4 41498 0 9.56023E-5
11-44297147-G-C p.Asp176Glu missense ALX4 1 83080 1.20366E-5 41540 0 2.48008E-5
11-44297148-T-C p.Asp176Gly missense ALX4 1 83074 1.20375E-5 41537 0 1.19475E-5
11-44297174-G-A p.Pro167Pro synonymous ALX4 1 83104 1.20331E-5 41552 0 7.97906E-6
11-44297176-G-A p.Pro167Ser missense ALX4 1 83096 1.20343E-5 41548 0 NA
11-44297178-A-G p.Leu166Ser missense ALX4 1 83098 1.2034E-5 41549 0 1.66223E-5
11-44297181-T-A p.Glu165Val missense ALX4 1 83092 1.20349E-5 41546 0 8.31988E-6
11-44297186-C-T p.Glu163Glu synonymous ALX4 14 83052 1.68569E-4 41526 0 4.14356E-4
11-44297188-C-T p.Glu163Lys missense ALX4 1 83052 1.20406E-5 41526 0 NA
11-44297201-C-G p.Glu158Asp missense ALX4 13 82968 1.56687E-4 41484 0 0.0025
11-44297213-G-T c.467-5C>A splice_region ALX4 1 82834 1.20723E-5 41417 0 4.02285E-6
11-44331141-A-C c.466+6T>G splice_region ALX4 1 76698 1.30381E-5 38349 0 5.0228E-6
11-44331153-A-T p.Cys154Ser missense ALX4 22 76766 2.86585E-4 38383 0 0.00152284
11-44331163-C-A p.Leu150Phe missense ALX4 1 76784 1.30235E-5 38392 0 4.73606E-6
11-44331164-A-G p.Leu150Ser missense ALX4 3 76796 3.90645E-5 38398 0 NA
11-44331173-C-T p.Ser147Asn missense ALX4 60 76786 7.81392E-4 38393 0 0.00127397
11-44331181-G-A p.Ser144Ser synonymous ALX4 1 76790 1.30225E-5 38395 0 5.23706E-5
11-44331182-C-T p.Ser144Asn missense ALX4 1 76800 1.30208E-5 38400 0 NA
11-44331194-T-A p.Gln140Leu missense ALX4 1 76782 1.30239E-5 38391 0 NA
11-44331229-G-T p.Ala128Ala synonymous ALX4 2 76700 2.60756E-5 38350 0 9.55779E-5
11-44331253-C-A p.Pro120Pro synonymous ALX4 1 76388 1.30911E-5 38194 0 0.00204708
11-44331260-G-T p.Ala118Glu missense ALX4 1 76084 1.31434E-5 38042 0 NA
11-44331262-GGGCGGCTGGGGCTGCGGCTGCTGCTGCTGCGGCTGCGGCTGCGGC-G p.Pro103_Pro117del disruptive_inframe_deletion ALX4 3 76074 3.94353E-5 38037 0 3.18776E-5
11-44331263-G-GGCGGCTGGGGCTGCGGCTGCT p.Gln110_Pro116dup conservative_inframe_insertion ALX4 5 76054 6.57428E-5 38027 0 3.18715E-5
11-44331263-GGCGGCTGGGGCTGCGGCTGCTGCTGCT-G p.Gln108_Pro116del disruptive_inframe_deletion ALX4 1 76056 1.31482E-5 38028 0 NA
11-44331266-G-C p.Pro116Arg missense ALX4 4 75976 5.26482E-5 37988 0 1.14252E-5
11-44331266-G-T p.Pro116Gln missense ALX4 2 75976 2.63241E-5 37988 0 5.9755E-5
11-44331269-T-C p.Gln115Arg missense ALX4 1 76088 1.31427E-5 38044 0 NA
11-44331271-GGGCTGCGGCTGCTGCTGCTGC-G p.Gln108_Pro114del disruptive_inframe_deletion ALX4 10 76062 1.31472E-4 38031 0 4.2315E-4
11-44331271-G-GGGCTGCGGCTGCTGCTGCTGC p.Pro114_Gln115insGlnGlnGlnGlnProGlnPro disruptive_inframe_insertion ALX4 1 76062 1.31472E-5 38031 0 3.18837E-5
11-44331272-GGCTGCGGCTGCTGCT-G p.Gln109_Gln113del disruptive_inframe_deletion ALX4 1 76070 1.31458E-5 38035 0 NA
11-44331276-G-GCGGCGA p.Pro112_Gln113insSerPro conservative_inframe_insertion ALX4 1 75934 1.31693E-5 37967 0 9.24745E-4
11-44331278-GGCT-G p.Gln111del disruptive_inframe_deletion ALX4 1 75962 1.31645E-5 37981 0 5.02999E-5
11-44331278-G-GGCT p.Gln111dup conservative_inframe_insertion ALX4 2 75970 2.63262E-5 37985 0 NA
11-44331278-G-GGCTGCT p.Gln110_Gln111dup conservative_inframe_insertion ALX4 1 75972 1.31627E-5 37986 0 3.18959E-5
11-44331280-CT-GG p.Gln111Pro missense ALX4 1 76012 1.31558E-5 38006 0 NA
11-44331284-T-C p.Gln110Arg missense ALX4 3 76102 3.94208E-5 38051 0 1.27755E-4
11-44331287-TGCTGCGGCTGCG-T p.Pro105_Gln108del disruptive_inframe_deletion ALX4 886 76156 0.011634 38078 25 0.0237852
11-44331287-T-TGCTGCG p.Pro107_Gln108dup conservative_inframe_insertion ALX4 6 76166 7.87753E-5 38083 0 6.37674E-5
11-44331287-T-G p.Gln109Pro missense ALX4 2 76166 2.62584E-5 38083 0 0.00259336
11-44331292-CGGCTGCGGCTGCGGCGGCGGCTGG-C p.Gln100_Pro107del disruptive_inframe_deletion ALX4 1 75918 1.31721E-5 37959 0 6.767E-6
11-44331298-C-T p.Pro105Pro synonymous ALX4 2 75872 2.63602E-5 37936 0 0.00129534
11-44331309-G-A p.Pro102Ser missense ALX4 29354 74738 0.392759 37369 6409 0.602832
11-44331309-G-GCGGCTGGGGCTGCGGGGTCGA p.Pro101_Pro102insSerThrProGlnProGlnPro conservative_inframe_insertion ALX4 1 75978 1.31617E-5 37989 0 NA
11-44331310-C-G p.Pro101Pro synonymous ALX4 1 75848 1.31843E-5 37924 0 NA
11-44331314-T-C p.Gln100Arg missense ALX4 3 76136 3.94032E-5 38068 0 7.18288E-5
11-44331321-G-T p.Gln98Lys missense ALX4 4 76328 5.24054E-5 38164 0 4.13286E-5
11-44331322-C-T p.Pro97Pro synonymous ALX4 4 76346 5.23931E-5 38173 0 7.72559E-5
11-44331329-G-A p.Ser95Leu missense ALX4 1 76634 1.3049E-5 38317 0 NA
11-44331360-C-T p.Gly85Ser missense ALX4 7 78884 8.87379E-5 39442 0 6.95024E-5
11-44331362-C-T p.Arg84Gln missense ALX4 1 78916 1.26717E-5 39458 0 NA
11-44331364-C-A p.Ala83Ala synonymous ALX4 1 78856 1.26813E-5 39428 0 NA
11-44331378-T-C p.Ser79Gly missense ALX4 1 79590 1.25644E-5 39795 0 6.46304E-6
11-44331379-C-T p.Glu78Glu synonymous ALX4 2 79636 2.51143E-5 39818 0 3.18512E-5
11-44331385-G-A p.Pro76Pro synonymous ALX4 1 79772 1.25357E-5 39886 0 1.27489E-5
11-44331386-G-A p.Pro76Leu missense ALX4 1 79792 1.25326E-5 39896 0 3.18593E-5
11-44331387-G-T p.Pro76Thr missense ALX4 15 79794 1.87984E-4 39897 0 7.71221E-4
11-44331396-G-A p.Leu73Leu synonymous ALX4 5 80004 6.24969E-5 40002 0 0.00125156
11-44331411-C-T p.Ala68Thr missense ALX4 1 80224 1.24651E-5 40112 0 3.18552E-5
11-44331425-C-T p.Arg63Gln missense ALX4 8 80438 9.94555E-5 40219 0 0.00357508
11-44331432-T-G p.Lys61Gln missense ALX4 1 80510 1.24208E-5 40255 0 NA
11-44331440-C-T p.Gly58Glu missense ALX4 1 80578 1.24103E-5 40289 0 NA
11-44331453-C-T p.Ala54Thr missense ALX4 1 80702 1.23913E-5 40351 0 NA
11-44331454-T-C p.Lys53Lys synonymous ALX4 5 80690 6.19655E-5 40345 0 NA
11-44331465-C-T p.Ala50Thr missense ALX4 1 80602 1.24066E-5 40301 0 3.03453E-5
11-44331467-G-A p.Ser49Leu missense ALX4 3 80678 3.71849E-5 40339 0 2.95648E-5
11-44331473-A-C p.Phe47Cys missense ALX4 3 80756 3.71489E-5 40378 0 4.72375E-6
11-44331487-C-A p.Lys42Asn missense ALX4 1 80742 1.23851E-5 40371 0 1.0402E-4
11-44331492-C-T p.Asp41Asn missense ALX4 2 80746 2.4769E-5 40373 0 5.12111E-5
11-44331509-C-G p.Arg35Thr missense ALX4 37338 80458 0.464068 40229 9090 0.591438
11-44331509-CTA-GTG p.PheArg34PheThr missense ALX4 1 80764 1.23818E-5 40382 0 NA
11-44331518-G-T p.Ser32* stop_gained ALX4 1 80688 1.23934E-5 40344 0 NA
11-44331523-G-C p.Gly30Gly synonymous ALX4 1 80638 1.24011E-5 40319 0 NA
11-44331524-C-T p.Gly30Asp missense ALX4 4 80672 4.95835E-5 40336 0 1.72295E-5
11-44331524-C-A p.Gly30Val missense ALX4 1 80672 1.23959E-5 40336 0 NA
11-44331541-C-T p.Val24Val synonymous ALX4 1 80566 1.24122E-5 40283 0 3.18532E-5
11-44331544-C-G p.Pro23Pro synonymous ALX4 578 80502 0.00717995 40251 8 0.0251529
11-44331544-C-A p.Pro23Pro synonymous ALX4 2 80532 2.48348E-5 40266 0 5.12628E-5
11-44331550-G-A p.Tyr21Tyr synonymous ALX4 698 80388 0.00868289 40194 7 0.0123255
11-44331551-T-C p.Tyr21Cys missense ALX4 3 80382 3.73218E-5 40191 0 3.18634E-5
11-44331569-G-T p.Ala15Asp missense ALX4 1 79870 1.25203E-5 39935 0 3.60594E-5
11-44331569-G-C p.Ala15Gly missense ALX4 2 79870 2.50407E-5 39935 0 NA
11-44331574-C-T p.Pro13Pro synonymous ALX4 1 79600 1.25628E-5 39800 0 0.00102354
11-44331577-C-G p.Ser12Ser synonymous ALX4 2 79430 2.51794E-5 39715 0 NA
11-44331582-C-G p.Glu11Gln missense ALX4 2 79380 2.51953E-5 39690 0 NA
11-44331594-C-A p.Val7Phe missense ALX4 1 78948 1.26666E-5 39474 0 2.00916E-5
11-44331594-C-T p.Val7Ile missense ALX4 1 78948 1.26666E-5 39474 0 4.5785E-6
11-44331595-G-C p.Cys6Trp missense ALX4 1 78866 1.26797E-5 39433 0 6.25E-4
11-44331595-G-GC p.Cys6fs frameshift ALX4 3 78866 3.80392E-5 39433 0 8.29187E-5
11-44331595-G-A p.Cys6Cys synonymous ALX4 1 78866 1.26797E-5 39433 0 NA
11-44331596-C-CA p.Cys6fs frameshift ALX4 2 78814 2.53762E-5 39407 0 2.06894E-5
11-44331606-C-T p.Ala3Thr missense ALX4 1 78308 1.27701E-5 39154 0 9.5288E-6
11-44331608-T-C p.Asn2Ser missense ALX4 3 78276 3.83259E-5 39138 0 1.33738E-4
11-44331611-A-G p.Met1? start_lost ALX4 4 78140 5.11902E-5 39070 0 4.86154E-6
11-44331612-T-C p.Met1? start_lost ALX4 1 78064 1.281E-5 39032 0 6.37511E-5
11-44331627-G-T c.-15C>A 5_prime_UTR_premature_start_codon_gain ALX4 1 77448 1.29119E-5 38724 0 1.10192E-5
11-44331637-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain ALX4 1 77018 1.2984E-5 38509 0 NA
11-44331649-G-A c.-37C>T 5_prime_UTR_premature_start_codon_gain ALX4 1 76314 1.31038E-5 38157 0 NA
11-44331657-G-C c.-45C>G 5_prime_UTR_premature_start_codon_gain ALX4 8 75554 1.05885E-4 37777 0 1.91314E-4
11-44331668-C-A c.-56G>T 5_prime_UTR_premature_start_codon_gain ALX4 1 73894 1.35329E-5 36947 0 NA
11-44331676-T-A c.-64A>T 5_prime_UTR_premature_start_codon_gain ALX4 1 72794 1.37374E-5 36397 0 NA
11-44331698-G-C c.-86C>G 5_prime_UTR_premature_start_codon_gain ALX4 5 70060 7.13674E-5 35030 0 9.57732E-5