Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-8368439-T-C c.*409A>G splice_region ACOX3 1 37424 2.67208E-5 18712 0 NA
4-8368688-C-G p.Ter701Tyrext*? stop_lost ACOX3 2 83328 2.40015E-5 41664 0 NA
4-8368693-G-C p.Leu700Val missense ACOX3 1 83336 1.19996E-5 41668 0 3.97633E-6
4-8368698-G-A p.Ser698Leu missense ACOX3 3 83334 3.59997E-5 41667 0 8.748E-5
4-8368731-G-A p.Ser687Phe missense ACOX3 2 83358 2.39929E-5 41679 0 6.36862E-5
4-8368739-T-C p.Pro684Pro synonymous ACOX3 1 83354 1.1997E-5 41677 0 5.76616E-5
4-8368755-C-T p.Arg679Gln missense ACOX3 10 83328 1.20008E-4 41664 0 3.57935E-5
4-8368756-G-A p.Arg679Trp missense ACOX3 1 83324 1.20013E-5 41662 0 9.55475E-5
4-8368765-C-G p.Val676Leu missense ACOX3 1 83314 1.20028E-5 41657 0 1.19322E-5
4-8368767-T-C p.Lys675Arg missense ACOX3 5 83310 6.00168E-5 41655 0 5.04541E-4
4-8368775-C-G p.Gln672His missense ACOX3 2 83322 2.40033E-5 41661 0 5.56908E-5
4-8368778-C-G p.Leu671Leu synonymous ACOX3 1 83294 1.20057E-5 41647 0 NA
4-8368786-C-G p.Ala669Pro missense ACOX3 1 83250 1.2012E-5 41625 0 NA
4-8368787-G-A p.Gly668Gly synonymous ACOX3 6 83260 7.20634E-5 41630 0 8.24362E-5
4-8368803-T-C p.Tyr663Cys missense ACOX3 1 83142 1.20276E-5 41571 0 3.98191E-6
4-8368808-C-G c.1984-1G>C splice_acceptor ACOX3 1 83132 1.20291E-5 41566 0 NA
4-8368809-T-TC c.1984-3_1984-2insG splice_region ACOX3 3 83110 3.60967E-5 41555 1 NA
4-8368809-T-TCGCCGTCGGCTCTGCCAATCGGTGAGTCCAGAACAAAGTCAG c.1984-3_1984-2insCTGACTTTGTTCTGGACTCACCGATTGGCAGAGCCGACGGCG splice_region ACOX3 2 83110 2.40645E-5 41555 1 NA
4-8368812-A-G c.1984-5T>C splice_region ACOX3 2 83076 2.40743E-5 41538 0 5.57836E-5
4-8372628-C-A c.1983+7G>T splice_region ACOX3 14 82966 1.68744E-4 41483 0 0.00118949
4-8372634-C-A c.1983+1G>T splice_donor ACOX3 3 83020 3.61359E-5 41510 0 3.98572E-5
4-8372637-C-T p.Glu661Lys missense+splice_region ACOX3 1 83056 1.20401E-5 41528 0 2.47676E-5
4-8372640-C-T p.Gly660Ser missense ACOX3 3 83070 3.61141E-5 41535 0 7.96762E-6
4-8372641-G-A p.Asp659Asp synonymous ACOX3 3 83064 3.61167E-5 41532 0 6.36902E-5
4-8372643-C-T p.Asp659Asn missense ACOX3 3 83096 3.61028E-5 41548 0 1.31438E-4
4-8372644-G-A p.Ala658Ala synonymous ACOX3 13 83090 1.56457E-4 41545 0 5.17739E-5
4-8372654-A-C p.Ile655Ser missense ACOX3 2 83132 2.40581E-5 41566 0 8.2481E-6
4-8372656-C-T p.Pro654Pro synonymous ACOX3 3 83154 3.60776E-5 41577 0 2.47447E-5
4-8372657-G-A p.Pro654Leu missense ACOX3 1 83158 1.20253E-5 41579 0 1.64959E-5
4-8372658-G-A p.Pro654Ser missense ACOX3 1 83172 1.20233E-5 41586 0 NA
4-8372671-A-G p.Phe649Phe synonymous ACOX3 1 83210 1.20178E-5 41605 0 NA
4-8372685-C-G p.Ala645Pro missense ACOX3 1 83206 1.20184E-5 41603 0 NA
4-8372686-G-A p.Arg622Cys missense ACOX3 132 83214 0.00158627 41607 2 0.00324799
4-8372692-G-A p.Arg620Cys missense ACOX3 1 83216 1.20169E-5 41608 0 8.25328E-6
4-8372698-C-T p.Gly618Ser missense ACOX3 1 83220 1.20163E-5 41610 0 3.97867E-6
4-8372702-G-C p.Ala639Gly missense ACOX3 6 83216 7.21015E-5 41608 0 6.25E-4
4-8372706-C-G p.Val638Leu missense ACOX3 1 83212 1.20175E-5 41606 0 NA
4-8372712-C-T p.Asp636Asn missense ACOX3 1 83190 1.20207E-5 41595 0 7.95931E-6
4-8372713-G-A p.Arg613* stop_gained ACOX3 1 83178 1.20224E-5 41589 0 0.00100705
4-8372714-T-C p.Asp635Gly missense ACOX3 1 83182 1.20218E-5 41591 0 3.9794E-6
4-8372714-T-G p.Asp635Ala missense ACOX3 1 83182 1.20218E-5 41591 0 NA
4-8372715-CTTT-C p.Glu611_Arg612delinsGly disruptive_inframe_deletion ACOX3 1 83176 1.20227E-5 41588 0 NA
4-8372720-A-G p.Leu633Pro missense+splice_region ACOX3 5 83164 6.01222E-5 41582 0 NA
4-8372723-T-TCGGTAGAGCAGGGCCGCGTGGCGGCTCAGG c.1897-3_1897-2insCCTGAGCCGCCACGCGGCCCTGCTCTACCG splice_region ACOX3 1 83130 1.20294E-5 41565 0 NA
4-8372727-G-A c.1897-6C>T splice_region ACOX3 2847 82982 0.0343086 41491 75 0.06625
4-8372728-G-A c.1897-7C>T splice_region ACOX3 1 83062 1.20392E-5 41531 0 NA
4-8375280-C-T c.1896+8G>A splice_region ACOX3 2 82182 2.43362E-5 41091 0 3.46159E-5
4-8375281-G-T c.1896+7C>A splice_region ACOX3 1 82206 1.21646E-5 41103 0 NA
4-8375281-G-A c.1896+7C>T splice_region ACOX3 7 82204 8.5154E-5 41102 0 9.56389E-5
4-8375302-C-T p.Ala628Thr missense ACOX3 1 82276 1.21542E-5 41138 0 3.99157E-6
4-8375308-C-T p.Val626Ile missense ACOX3 5 82210 6.08199E-5 41105 0 7.19223E-5
4-8375309-G-A p.Ala625Ala synonymous ACOX3 1 82190 1.21669E-5 41095 0 8.84596E-5
4-8375311-C-G p.Ala625Pro missense ACOX3 1 82164 1.21708E-5 41082 0 1.77901E-5
4-8375312-G-A p.Ser624Ser synonymous ACOX3 1 82146 1.21734E-5 41073 0 3.19918E-5
4-8375314-T-G p.Ser624Arg missense ACOX3 1 82182 1.21681E-5 41091 0 NA
4-8375318-C-T p.Leu622Leu synonymous ACOX3 1 82214 1.21634E-5 41107 0 NA
4-8375322-A-C p.Val621Gly missense ACOX3 2 82152 2.43451E-5 41076 0 4.01368E-6
4-8375330-C-T p.Ala618Ala synonymous ACOX3 3 82246 3.64759E-5 41123 0 9.55536E-5
4-8375331-G-A p.Ala618Val missense ACOX3 3 82200 3.64963E-5 41100 0 3.18593E-5
4-8375341-C-T p.Gly615Ser missense ACOX3 5 82124 6.08835E-5 41062 0 0.00151057
4-8375341-CG-AA p.SerGly614SerCys missense ACOX3 2 82124 2.43534E-5 41062 0 NA
4-8375342-G-A p.Ser614Ser synonymous ACOX3 11346 81840 0.138636 40920 795 0.209375
4-8375345-G-T p.Phe613Leu missense ACOX3 1 82100 1.21803E-5 41050 0 4.04711E-5
4-8375351-T-C p.Gly611Gly synonymous ACOX3 1 82048 1.2188E-5 41024 0 1.03905E-5
4-8375352-C-A p.Gly611Val missense ACOX3 1 82066 1.21853E-5 41033 0 5.22586E-5
4-8375359-C-T c.1829-4G>A splice_region ACOX3 1 82032 1.21904E-5 41016 0 NA
4-8376699-C-T c.1828+6G>A splice_region ACOX3 4 78766 5.07833E-5 39383 0 1.59317E-4
4-8376707-C-T p.Arg609Gln missense+splice_region ACOX3 10 78894 1.26752E-4 39447 0 4.46628E-4
4-8376714-G-A p.Leu607Phe missense ACOX3 25 78924 3.1676E-4 39462 0 6.3743E-5
4-8376719-G-A p.Ala605Val missense ACOX3 84 78838 0.00106548 39419 0 0.0019845
4-8376721-C-T p.Ala604Ala synonymous ACOX3 2 78860 2.53614E-5 39430 0 6.6929E-6
4-8376723-C-A p.Ala604Ser missense ACOX3 6 78774 7.61673E-5 39387 0 1.91266E-4
4-8376724-G-A p.His603His synonymous ACOX3 4 78838 5.0737E-5 39419 0 5.21376E-4
4-8376728-C-T p.Arg602His missense ACOX3 2 78938 2.53363E-5 39469 0 3.18796E-5
4-8376729-G-A p.Arg602Cys missense ACOX3 24 78992 3.03828E-4 39496 0 0.00100838
4-8376733-C-A p.Leu600Leu synonymous ACOX3 8 79162 1.01059E-4 39581 1 1.47275E-4
4-8376737-G-C p.Ser599Cys missense ACOX3 1 79280 1.26135E-5 39640 0 NA
4-8376746-G-A p.Ala596Val missense ACOX3 8 79262 1.00931E-4 39631 0 2.23058E-4
4-8376746-GC-G p.Ala596fs frameshift ACOX3 1 79262 1.26164E-5 39631 0 NA
4-8376748-G-A p.Tyr595Tyr synonymous ACOX3 1 79292 1.26116E-5 39646 0 8.94169E-5
4-8376748-G-C p.Tyr595* stop_gained ACOX3 1 79292 1.26116E-5 39646 0 6.38692E-6
4-8376749-T-C p.Tyr595Cys missense ACOX3 3 79262 3.78492E-5 39631 0 2.55539E-5
4-8376751-C-G p.Leu594Leu synonymous ACOX3 1 79368 1.25995E-5 39684 0 6.37747E-6
4-8376760-G-A p.Leu591Leu synonymous ACOX3 3 79396 3.77853E-5 39698 0 6.16751E-5
4-8376764-C-G p.Arg590Pro missense ACOX3 1 79330 1.26056E-5 39665 0 6.20655E-5
4-8376772-C-T p.Val587Val synonymous ACOX3 1 79570 1.25676E-5 39785 0 NA
4-8376775-G-A p.Ala586Ala synonymous ACOX3 1 79588 1.25647E-5 39794 0 NA
4-8376776-G-C p.Ala586Gly missense ACOX3 6 79586 7.53901E-5 39793 0 6.03282E-5
4-8376779-C-G p.Arg585Pro missense ACOX3 1 79648 1.25552E-5 39824 0 NA
4-8376780-G-A p.Arg585Trp missense ACOX3 2 79618 2.51199E-5 39809 0 6.37349E-5
4-8376781-C-T p.Leu584Leu synonymous ACOX3 1 79680 1.25502E-5 39840 0 1.27445E-4
4-8376785-G-A p.Ser583Leu missense ACOX3 2 79788 2.50664E-5 39894 0 1.27561E-5
4-8376788-G-A p.Pro582Leu missense ACOX3 2 79852 2.50463E-5 39926 0 3.18573E-5
4-8376790-C-T p.Pro581Pro synonymous ACOX3 2 79836 2.50514E-5 39918 0 NA
4-8376791-G-A p.Pro581Leu missense ACOX3 2 79880 2.50376E-5 39940 0 6.25E-4
4-8376792-G-C p.Pro581Ala missense ACOX3 1 79878 1.25191E-5 39939 0 NA
4-8376795-C-T p.Val580Met missense ACOX3 1 80032 1.2495E-5 40016 0 2.54062E-5
4-8376796-G-A p.Ser579Ser synonymous ACOX3 1 80110 1.24828E-5 40055 0 NA
4-8376799-A-G p.Pro578Pro synonymous ACOX3 1 80244 1.2462E-5 40122 0 NA
4-8376807-G-GA p.His576fs frameshift ACOX3 1 80266 1.24586E-5 40133 0 NA
4-8376810-C-T p.Val575Met missense ACOX3 2 80292 2.49091E-5 40146 0 0.00155119
4-8376817-G-A p.His572His synonymous ACOX3 68 80412 8.45645E-4 40206 0 7.30337E-4
4-8376819-G-A p.His572Tyr missense ACOX3 35 80432 4.3515E-4 40216 0 0.00206398
4-8376829-G-C p.Val568Val synonymous ACOX3 1 80438 1.24319E-5 40219 0 6.27833E-6
4-8376834-C-G p.Val567Leu missense ACOX3 1 80368 1.24428E-5 40184 0 6.25704E-6
4-8376835-C-G p.Thr566Thr synonymous ACOX3 2033 80328 0.0253087 40164 35 0.037037
4-8376835-C-T p.Thr566Thr synonymous ACOX3 38 80370 4.72813E-4 40185 0 0.0045425
4-8376837-T-A p.Thr566Ser missense ACOX3 2 80336 2.48954E-5 40168 0 NA
4-8376838-G-A p.Leu565Leu synonymous ACOX3 1 80354 1.24449E-5 40177 0 NA
4-8376846-C-T p.Val563Met missense ACOX3 8 80280 9.96512E-5 40140 1 6.26818E-6
4-8376846-C-G p.Val563Leu missense ACOX3 2 80280 2.49128E-5 40140 0 NA
4-8376856-C-A p.Ala559Ala synonymous ACOX3 1 80068 1.24894E-5 40034 0 0.00104275
4-8376857-G-A p.Ala559Val missense ACOX3 1 80038 1.24941E-5 40019 0 NA
4-8376862-C-T p.Pro557Pro synonymous ACOX3 5 80026 6.24797E-5 40013 0 5.91226E-5
4-8376867-G-A p.Arg556Cys missense ACOX3 27 79900 3.37922E-4 39950 0 0.00261233
4-8376870-C-T p.Gly555Ser missense ACOX3 1 79830 1.25266E-5 39915 0 1.23168E-4
4-8376871-G-A p.His554His synonymous ACOX3 5 79780 6.26723E-5 39890 0 1.94628E-5
4-8376871-G-C p.His554Gln missense ACOX3 1 79780 1.25345E-5 39890 0 1.29752E-5
4-8376877-C-T p.Val552Val splice_region+synonymous ACOX3 3 79656 3.76619E-5 39828 0 6.37024E-5
4-8376883-G-GCATTTGTTCCTTGCTTC c.1654-5_1654-4insGAAGCAAGGAACAAATG splice_region ACOX3 3 79544 3.7715E-5 39772 1 NA
4-8383215-T-G c.1653+4A>C splice_region ACOX3 3023 82928 0.0364533 41464 70 0.045
4-8383220-T-C p.Gln551Arg missense+splice_region ACOX3 1 83062 1.20392E-5 41531 0 3.99466E-6
4-8383256-G-T p.Ser539* stop_gained ACOX3 2 83304 2.40085E-5 41652 0 NA
4-8383286-G-C p.Thr529Ser missense ACOX3 2 83288 2.40131E-5 41644 0 1.98984E-5
4-8383289-T-A p.Glu528Val missense ACOX3 1 83282 1.20074E-5 41641 0 NA
4-8383292-C-T p.Arg527Gln missense ACOX3 39 83272 4.68345E-4 41636 0 7.64331E-4
4-8383296-G-A p.Leu526Phe missense ACOX3 3 83276 3.60248E-5 41638 0 0.00125
4-8383300-G-T p.Tyr524* stop_gained ACOX3 1 83286 1.20068E-5 41643 0 8.24974E-6
4-8383309-C-T p.Leu521Leu synonymous ACOX3 3 83282 3.60222E-5 41641 0 3.18471E-5
4-8383321-T-C p.Ala517Ala synonymous ACOX3 1 83254 1.20114E-5 41627 0 NA
4-8383329-G-A p.Leu515Leu synonymous ACOX3 1 83200 1.20192E-5 41600 0 0.00125
4-8383332-C-T p.Ala514Thr missense+splice_region ACOX3 1 83160 1.2025E-5 41580 0 4.00003E-5
4-8383333-G-A p.Val513Val splice_region+synonymous ACOX3 1 83154 1.20259E-5 41577 0 3.18573E-5
4-8383337-T-C c.1538-3A>G splice_region ACOX3 1 83106 1.20328E-5 41553 0 NA
4-8383339-G-A c.1538-5C>T splice_region ACOX3 18 83088 2.16638E-4 41544 0 5.73541E-4
4-8383339-G-C c.1538-5C>G splice_region ACOX3 1 83088 1.20354E-5 41544 0 NA
4-8390903-C-T p.Ala512Thr missense ACOX3 2 83190 2.40414E-5 41595 0 5.04541E-4
4-8390914-C-T p.Cys508Tyr missense ACOX3 1 83238 1.20137E-5 41619 0 NA
4-8390918-C-T p.Asp507Asn missense ACOX3 3 83254 3.60343E-5 41627 0 3.98406E-5
4-8390924-C-T p.Val505Ile missense ACOX3 1 83270 1.20091E-5 41635 0 NA
4-8390927-T-C p.Ser504Gly missense ACOX3 1 83270 1.20091E-5 41635 0 NA
4-8390933-C-A p.Val502Phe missense ACOX3 2 83268 2.40188E-5 41634 0 NA
4-8390948-C-T p.Asp497Asn missense ACOX3 3483 83180 0.041873 41590 93 0.0590313
4-8390957-C-T p.Gly494Ser missense ACOX3 2 83274 2.40171E-5 41637 0 5.04032E-4
4-8390958-G-A p.Pro493Pro synonymous ACOX3 13 83268 1.56122E-4 41634 0 0.00252016
4-8390965-G-A p.Ala491Val missense ACOX3 9 83248 1.08111E-4 41624 0 0.00251608
4-8390972-G-T p.Leu489Met missense ACOX3 1 83228 1.20152E-5 41614 0 3.47186E-5
4-8390979-C-T p.Val486Val synonymous ACOX3 4 83214 4.80688E-5 41607 0 8.80592E-6
4-8390991-C-T p.Pro482Pro synonymous ACOX3 19 83146 2.28514E-4 41573 0 9.24038E-4
4-8390992-G-A p.Pro482Leu missense ACOX3 4 83140 4.81116E-5 41570 0 1.27429E-4
4-8390998-C-G p.Arg480Pro missense ACOX3 218 83084 0.00262385 41542 4 0.00484385
4-8390998-C-T p.Arg480His missense ACOX3 1 83084 1.2036E-5 41542 0 6.25E-4
4-8390999-G-A p.Arg480Cys missense ACOX3 4 83088 4.81417E-5 41544 0 1.59337E-4
4-8391012-A-G p.Asp475Asp splice_region+synonymous ACOX3 1 82962 1.20537E-5 41481 0 NA
4-8391338-C-T c.1423+1G>A splice_donor ACOX3 3 82446 3.63875E-5 41223 0 3.18497E-5
4-8391339-C-T p.Asp475Asn missense+splice_region ACOX3 11 82522 1.33298E-4 41261 0 5.03525E-4
4-8391340-G-A p.His474His splice_region+synonymous ACOX3 32 82568 3.87559E-4 41284 0 7.64331E-4
4-8391351-G-A p.His471Tyr missense ACOX3 2 82848 2.41406E-5 41424 0 3.30049E-5
4-8391358-G-C p.Leu468Leu synonymous ACOX3 34 83008 4.09599E-4 41504 1 0.00142005
4-8391358-G-A p.Leu468Leu synonymous ACOX3 12 83008 1.44564E-4 41504 0 3.7114E-4
4-8391362-C-T p.Gly467Asp missense ACOX3 6 83060 7.22369E-5 41530 0 3.18593E-5
4-8391374-T-C p.Asn463Ser missense ACOX3 1 83204 1.20187E-5 41602 0 NA
4-8391378-T-C p.Ser462Gly missense ACOX3 1 83226 1.20155E-5 41613 0 NA
4-8391380-G-C p.Thr461Arg missense ACOX3 1 83246 1.20126E-5 41623 0 NA
4-8391386-T-C p.Gln459Arg missense ACOX3 9 83254 1.08103E-4 41627 0 2.54826E-4
4-8391393-G-C p.Leu457Val missense ACOX3 7 83288 8.40457E-5 41644 0 0.00375
4-8391422-T-C p.Asn447Ser missense ACOX3 5 83338 5.99966E-5 41669 0 1.9882E-5
4-8391429-C-T p.Asp445Asn missense ACOX3 2 83342 2.39975E-5 41671 0 2.47121E-5
4-8391430-G-A p.Asn444Asn synonymous ACOX3 2 83346 2.39964E-5 41673 0 1.64745E-5
4-8391437-T-C p.Asp442Gly missense ACOX3 1 83354 1.1997E-5 41677 0 3.97687E-6
4-8391445-G-A p.Val439Val synonymous ACOX3 1 83344 1.19985E-5 41672 0 3.18512E-5
4-8391450-C-G p.Gly438Arg missense ACOX3 7 83340 8.39933E-5 41670 0 1.27421E-4
4-8391454-C-A p.Arg436Arg synonymous ACOX3 2 83354 2.3994E-5 41677 1 6.25E-4
4-8391455-C-T p.Arg436Gln missense ACOX3 28 83352 3.35925E-4 41676 0 6.25E-4
4-8391455-C-A p.Arg436Leu missense ACOX3 1 83352 1.19973E-5 41676 0 8.23764E-6
4-8391456-G-A p.Arg436Trp missense ACOX3 5 83354 5.99851E-5 41677 0 6.36699E-5
4-8391461-A-ATGGCCAGATAGCCGTGTCCTCCACACGCCTCCCGGCATTC c.1301-1_1301insGAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCA splice_acceptor ACOX3 4 83346 4.79927E-5 41673 2 NA
4-8391461-A-ATGGCCAGATAGCCGTGTCCTCCACACGCCTCC c.1301-1_1301insGGAGGCGTGTGGAGGACACGGCTATCTGGCCA splice_acceptor ACOX3 1 83346 1.19982E-5 41673 0 NA
4-8391461-A-ATGGCCAGATAGCCGTGTCCTCCACACGC c.1301-1_1301insGCGTGTGGAGGACACGGCTATCTGGCCA splice_acceptor ACOX3 1 83346 1.19982E-5 41673 0 NA
4-8391461-A-ATGGCCAGATAGCCGTGTCCTCCACACGCCTCCCGGCATT c.1301-1_1301insAATGCCGGGAGGCGTGTGGAGGACACGGCTATCTGGCCA splice_acceptor ACOX3 1 83346 1.19982E-5 41673 0 NA
4-8391464-G-A c.1301-3C>T splice_region ACOX3 6 83332 7.20012E-5 41666 0 4.94275E-5
4-8394058-A-G c.1300+2T>C splice_donor ACOX3 1 83034 1.20433E-5 41517 0 NA
4-8394069-A-C p.Tyr431Asp missense ACOX3 1 83204 1.20187E-5 41602 0 NA
4-8394073-G-A p.His429His synonymous ACOX3 16 83260 1.92169E-4 41630 1 1.07381E-4
4-8394083-C-T p.Cys426Tyr missense ACOX3 1 83294 1.20057E-5 41647 0 3.1841E-5
4-8394085-C-T p.Ala425Ala synonymous ACOX3 2 83306 2.40079E-5 41653 0 6.25E-4
4-8394092-CGG-TGA p.CysArg422CysGln missense ACOX3 1 83328 1.20008E-5 41664 0 NA
4-8394093-G-A p.Arg423Trp missense ACOX3 2 83324 2.40027E-5 41662 0 6.96727E-5
4-8394094-G-A p.Cys422Cys synonymous ACOX3 8181 83128 0.0984145 41564 567 0.115885
4-8394101-TG-T p.Gln420fs frameshift ACOX3 1 83322 1.20016E-5 41661 0 NA
4-8394123-A-G p.Trp413Arg missense ACOX3 1 83306 1.20039E-5 41653 0 NA
4-8394124-C-T p.Ser412Ser synonymous ACOX3 13 83296 1.5607E-4 41648 0 3.92701E-4
4-8394145-C-T p.Ser405Ser synonymous ACOX3 41 83280 4.92315E-4 41640 0 5.04541E-4
4-8394146-G-A p.Ser405Leu missense ACOX3 1 83286 1.20068E-5 41643 0 6.3674E-5
4-8394147-A-T p.Ser405Thr missense ACOX3 1 83290 1.20062E-5 41645 0 3.18431E-5
4-8394150-C-A p.Ala404Ser missense ACOX3 1 83282 1.20074E-5 41641 0 4.08367E-6
4-8394151-C-T p.Leu403Leu synonymous ACOX3 1 83282 1.20074E-5 41641 0 8.44081E-6
4-8394156-C-T p.Ala402Thr missense ACOX3 5 83262 6.00514E-5 41631 0 6.36862E-5
4-8394157-G-A p.His401His synonymous ACOX3 74 83260 8.88782E-4 41630 0 0.00957661
4-8394167-C-T p.Arg398His missense ACOX3 1 83222 1.20161E-5 41611 0 6.36902E-5
4-8394168-G-A p.Arg398Cys missense ACOX3 10 83212 1.20175E-4 41606 0 0.00125
4-8394182-T-TG c.1180-3_1180-2insC splice_region ACOX3 2 83114 2.40633E-5 41557 1 NA
4-8394185-G-C c.1180-5C>G splice_region ACOX3 1 83030 1.20438E-5 41515 0 6.94746E-5
4-8394186-G-C c.1180-6C>G splice_region ACOX3 1 83034 1.20433E-5 41517 0 4.84355E-6
4-8394187-G-C c.1180-7C>G splice_region ACOX3 2 83004 2.40952E-5 41502 0 8.69429E-6
4-8396341-C-T c.1179+6G>A splice_region ACOX3 1 81588 1.22567E-5 40794 0 5.83625E-5
4-8396341-C-A c.1179+6G>T splice_region ACOX3 1 81588 1.22567E-5 40794 0 NA
4-8396344-C-T c.1179+3G>A splice_region ACOX3 1 81760 1.22309E-5 40880 0 3.1835E-5
4-8396355-C-T p.Ala391Thr missense ACOX3 4 82086 4.87294E-5 41043 0 3.1837E-5
4-8396356-G-A p.Ser390Ser synonymous ACOX3 2 82188 2.43345E-5 41094 0 NA
4-8396360-C-T p.Arg389His missense ACOX3 1 82302 1.21504E-5 41151 0 2.49725E-5
4-8396361-G-A p.Arg389Cys missense ACOX3 8 82360 9.71345E-5 41180 0 6.3674E-5
4-8396363-T-A p.Asp388Val missense ACOX3 1 82424 1.21324E-5 41212 0 NA
4-8396368-C-T p.Ser386Ser synonymous ACOX3 5 82562 6.05605E-5 41281 0 2.47101E-4
4-8396369-G-A p.Ser386Leu missense ACOX3 4 82574 4.84414E-5 41287 0 6.3674E-5
4-8396380-T-G p.Arg382Arg synonymous ACOX3 1 82716 1.20896E-5 41358 0 NA
4-8396381-C-T p.Arg382Gln missense ACOX3 1 82728 1.20878E-5 41364 0 3.32602E-5
4-8396382-G-A p.Arg382* stop_gained ACOX3 2 82712 2.41803E-5 41356 0 8.3149E-6
4-8396410-C-T p.Ser372Ser synonymous ACOX3 8 82888 9.65158E-5 41444 0 1.51396E-4
4-8396411-G-A p.Ser372Leu missense ACOX3 2 82888 2.41289E-5 41444 0 6.36659E-5
4-8396423-T-C p.His368Arg missense ACOX3 1 82850 1.207E-5 41425 0 8.38856E-6
4-8396433-C-T p.Ala365Thr missense ACOX3 1 82792 1.20785E-5 41396 0 3.18824E-5
4-8396434-G-A p.Tyr364Tyr synonymous ACOX3 28 82830 3.38042E-4 41415 0 8.27973E-4
4-8396436-A-G p.Tyr364His missense ACOX3 1 82840 1.20715E-5 41420 0 1.6915E-5
4-8396450-T-A p.Tyr359Phe missense ACOX3 2 82682 2.41891E-5 41341 0 NA
4-8396461-G-A p.Arg355Arg synonymous ACOX3 1 82554 1.21133E-5 41277 0 2.796E-5
4-8396462-C-T p.Arg355His missense ACOX3 7 82512 8.48361E-5 41256 0 2.19337E-4
4-8396462-C-A p.Arg355Leu missense ACOX3 2 82512 2.42389E-5 41256 0 1.9991E-5
4-8396467-T-C p.Gln353Gln splice_region+synonymous ACOX3 1 82450 1.21286E-5 41225 0 NA
4-8396469-G-A p.Gln353* stop_gained ACOX3 1 82358 1.21421E-5 41179 0 NA
4-8396471-T-TGCATTGGATACTCAAGCACTGGTATTTCCTCCTCCTCTGTGGGTCCAA c.1057-3_1057-2insTTGGACCCACAGAGGAGGAGGAAATACCAGTGCTTGAGTATCCAATGC splice_region ACOX3 1 82300 1.21507E-5 41150 0 NA
4-8396476-C-T c.1057-7G>A splice_region ACOX3 2 82108 2.43582E-5 41054 0 NA
4-8396572-A-G n.41+6T>C splice_region ACOX3 3 66412 4.51726E-5 33206 0 3.1839E-5
4-8396576-A-T n.41+2T>A splice_donor ACOX3 5161 64288 0.0802794 32144 56 0.105121
4-8396580-A-C n.39T>G splice_region ACOX3 1465 64432 0.0227371 32216 16 0.0374451
4-8398660-A-T c.1056+4T>A splice_region ACOX3 4 83326 4.80042E-5 41663 0 6.58935E-5
4-8398663-C-T c.1056+1G>A splice_donor ACOX3 1 83336 1.19996E-5 41668 0 8.23655E-6
4-8398674-T-G p.Tyr349Ser missense ACOX3 1 83370 1.19947E-5 41685 0 NA
4-8398678-C-T p.Glu348Lys missense ACOX3 1 83374 1.19941E-5 41687 0 8.23655E-6
4-8398685-T-C p.Pro345Pro synonymous ACOX3 3 83380 3.59799E-5 41690 0 9.06021E-5
4-8398688-T-C p.Ile344Met missense ACOX3 2 83378 2.39871E-5 41689 0 5.03525E-4
4-8398703-T-C p.Thr339Thr synonymous ACOX3 1 83376 1.19939E-5 41688 0 8.23683E-6
4-8398711-C-A p.Gly337* stop_gained ACOX3 1 83368 1.1995E-5 41684 0 NA
4-8398719-C-T p.Arg334His missense ACOX3 12 83370 1.43937E-4 41685 1 0.00251762
4-8398722-C-T p.Arg333Gln missense ACOX3 2 83372 2.39889E-5 41686 0 5.76568E-5
4-8398723-G-A p.Arg333Trp missense ACOX3 1 83368 1.1995E-5 41684 0 6.25E-4
4-8398725-G-A p.Thr332Ile missense ACOX3 2 83370 2.39894E-5 41685 0 2.86496E-4
4-8398726-T-A p.Thr332Ser missense ACOX3 1 83364 1.19956E-5 41682 0 NA
4-8398730-T-C p.Ser330Ser synonymous ACOX3 1 83356 1.19967E-5 41678 0 NA
4-8398737-C-T p.Arg328His missense ACOX3 9 83350 1.07978E-4 41675 0 6.36821E-5
4-8398744-C-T p.Ala326Thr missense ACOX3 1 83342 1.19988E-5 41671 0 3.18492E-5
4-8398745-G-A p.Ile325Ile synonymous ACOX3 1 83346 1.19982E-5 41673 0 4.02868E-6
4-8398746-A-G p.Ile325Thr missense ACOX3 1 83344 1.19985E-5 41672 0 4.02525E-6
4-8398747-T-C p.Ile325Val missense ACOX3 5 83344 5.99923E-5 41672 0 8.04894E-6
4-8398753-C-T p.Val323Met missense ACOX3 2 83338 2.39987E-5 41669 0 1.6109E-5
4-8398753-C-G p.Val323Leu missense ACOX3 1 83338 1.19993E-5 41669 0 NA
4-8398754-G-A p.Ala322Ala synonymous ACOX3 3 83338 3.5998E-5 41669 0 3.18492E-5
4-8398761-TTTAGG-T p.Asn318fs frameshift ACOX3 1 83316 1.20025E-5 41658 0 NA
4-8398763-T-C p.Leu319Leu synonymous ACOX3 1 83314 1.20028E-5 41657 0 NA
4-8398766-G-A p.Asn318Asn synonymous ACOX3 1 83318 1.20022E-5 41659 0 8.24375E-6
4-8398769-A-G p.Leu317Leu synonymous ACOX3 1 83304 1.20042E-5 41652 0 8.24538E-6
4-8398782-C-T p.Ser313Asn missense ACOX3 1 83254 1.20114E-5 41627 0 8.25382E-6
4-8398784-C-T p.Val312Val synonymous ACOX3 2 83244 2.40258E-5 41622 0 NA
4-8398786-C-A p.Val312Leu missense ACOX3 1 83220 1.20163E-5 41610 0 4.14473E-6
4-8398786-C-T p.Val312Met missense ACOX3 1 83220 1.20163E-5 41610 0 5.03525E-4
4-8398787-G-A p.Ile311Ile synonymous ACOX3 1 83224 1.20158E-5 41612 0 8.69673E-5
4-8398789-T-C p.Ile311Val missense ACOX3 4 83206 4.80735E-5 41603 0 6.36943E-5
4-8398794-AC-A p.Val309fs frameshift ACOX3 1 83172 1.20233E-5 41586 0 NA
4-8398797-C-T p.Arg308Gln missense ACOX3 3 83168 3.60716E-5 41584 0 3.18532E-5
4-8398798-G-A p.Arg308Trp missense ACOX3 11 83158 1.32278E-4 41579 0 1.3582E-4
4-8398802-C-T p.Ser306Ser synonymous ACOX3 2 83104 2.40662E-5 41552 0 6.36902E-5
4-8398803-G-A p.Ser306Leu missense ACOX3 4 83106 4.81313E-5 41553 0 3.18431E-5
4-8398804-A-G p.Ser306Pro missense ACOX3 1 83098 1.2034E-5 41549 0 NA
4-8398814-C-T p.Gly302Gly synonymous ACOX3 8 83042 9.63368E-5 41521 0 3.34739E-5
4-8398823-C-T p.Ala299Ala synonymous ACOX3 4 82942 4.82265E-5 41471 0 9.55536E-5
4-8398824-G-A p.Ala299Val missense ACOX3 1 82890 1.20642E-5 41445 0 3.39714E-5
4-8398832-G-A p.Arg296Arg synonymous ACOX3 1 82844 1.20709E-5 41422 0 1.71007E-5
4-8398833-C-T p.Arg296His missense ACOX3 4 82818 4.82987E-5 41409 0 7.7305E-5
4-8398834-G-A p.Arg296Cys missense ACOX3 1 82734 1.20869E-5 41367 0 NA
4-8398837-G-A p.Gln295* stop_gained ACOX3 7 82696 8.46474E-5 41348 0 4.68428E-4
4-8398843-C-T p.Val293Ile missense ACOX3 3 82610 3.63152E-5 41305 0 1.98112E-5
4-8398845-T-A p.Asp292Val missense+splice_region ACOX3 1 82540 1.21153E-5 41270 0 NA
4-8398847-C-G c.874-1G>C splice_acceptor ACOX3 1 82522 1.2118E-5 41261 0 NA
4-8398848-TACGGGAGGGACACAGATGA-T c.874-21_874-3delTCATCTGTGTCCCTCCCGT splice_region ACOX3 5 82488 6.06149E-5 41244 1 NA
4-8398848-T-TTA c.874-3_874-2insTA splice_region ACOX3 2 82486 2.42465E-5 41243 1 NA
4-8398851-G-A c.874-5C>T splice_region ACOX3 4 82304 4.86003E-5 41152 0 9.75714E-5
4-8401275-G-A c.873+8C>T splice_region ACOX3 6 83162 7.21483E-5 41581 0 5.78809E-5
4-8401279-G-A c.873+4C>T splice_region ACOX3 2 83176 2.40454E-5 41588 0 NA
4-8401302-G-A p.Thr285Ile missense ACOX3 16 83296 1.92086E-4 41648 0 1.43181E-4
4-8401306-C-T p.Gly284Ser missense ACOX3 1 83294 1.20057E-5 41647 0 3.97725E-6
4-8401309-C-T p.Glu283Lys missense ACOX3 6 83298 7.20305E-5 41649 0 1.2751E-4
4-8401310-G-A p.Pro282Pro synonymous ACOX3 2 83292 2.40119E-5 41646 0 5.04032E-4
4-8401318-C-T p.Val280Ile missense ACOX3 2 83314 2.40056E-5 41657 0 0.00100806
4-8401319-G-A p.Asp279Asp synonymous ACOX3 418 83308 0.00501753 41654 1 0.00504032
4-8401325-C-T p.Met277Ile missense ACOX3 3 83334 3.59997E-5 41667 0 8.24538E-6
4-8401347-C-T p.Arg270His missense ACOX3 1 83332 1.20002E-5 41666 0 3.18492E-5
4-8401363-T-A p.Lys265* stop_gained ACOX3 1 83304 1.20042E-5 41652 0 NA
4-8401372-T-C p.Met262Val missense ACOX3 9 83286 1.08061E-4 41643 0 3.18512E-4
4-8401375-C-T p.Ala261Thr missense ACOX3 5 83264 6.005E-5 41632 0 1.15529E-4
4-8401376-G-A p.Phe260Phe synonymous ACOX3 3 83262 3.60308E-5 41631 0 3.30169E-5
4-8401379-ACTGTGGGGAAGCAG-A c.777-14_777-1delCTGCTTCCCCACAG splice_acceptor ACOX3 1 83250 1.2012E-5 41625 0 3.9788E-6
4-8401380-C-CCATTATCCAGACCGTTCTGCCCGAGTTTTTTTCCTA c.777-2_777-1insTAGGAAAAAAACTCGGGCAGAACGGTCTGGATAATG splice_acceptor ACOX3 5 83238 6.00687E-5 41619 1 NA
4-8401382-G-A c.777-3C>T splice_region ACOX3 1 83210 1.20178E-5 41605 0 7.95881E-6
4-8407679-C-A c.776+3G>T splice_region ACOX3 1 83242 1.20132E-5 41621 0 8.23859E-6
4-8407681-C-A c.776+1G>T splice_donor ACOX3 1 83252 1.20117E-5 41626 0 3.97659E-6
4-8407688-T-G p.Asp257Ala missense ACOX3 1 83280 1.20077E-5 41640 0 NA
4-8407695-C-T p.Gly255Ser missense ACOX3 2 83290 2.40125E-5 41645 0 4.7716E-5
4-8407699-C-T p.Gln253Gln synonymous ACOX3 1 83306 1.20039E-5 41653 0 1.64753E-5
4-8407704-C-T p.Gly252Arg missense ACOX3 4 83304 4.80169E-5 41652 0 2.38574E-5
4-8407707-G-GT p.Leu251fs frameshift ACOX3 6 83302 7.20271E-5 41651 0 2.47137E-5
4-8407707-GT-G p.Lys250fs frameshift ACOX3 1 83304 1.20042E-5 41652 0 1.64758E-5
4-8407709-T-G p.Lys250Thr missense ACOX3 1 83308 1.20036E-5 41654 0 NA
4-8407714-T-G p.Gly248Gly synonymous ACOX3 4 83312 4.80123E-5 41656 0 NA
4-8407717-T-C p.Ile247Met missense ACOX3 1 83310 1.20034E-5 41655 0 3.29538E-5
4-8407718-A-G p.Ile247Thr missense ACOX3 2 83314 2.40056E-5 41657 0 2.47154E-5
4-8407722-C-T p.Asp246Asn missense ACOX3 3 83312 3.60092E-5 41656 0 1.9881E-5
4-8407723-G-A p.Gly245Gly synonymous ACOX3 6 83304 7.20254E-5 41652 0 2.55102E-4
4-8407730-A-G p.Met243Thr missense ACOX3 1 83304 1.20042E-5 41652 0 6.37105E-5
4-8407738-A-G p.Pro240Pro synonymous ACOX3 1 83314 1.20028E-5 41657 0 NA
4-8407756-CTT-C p.Lys234fs frameshift ACOX3 1 83300 1.20048E-5 41650 0 8.24647E-6
4-8407759-C-T p.Pro233Pro synonymous ACOX3 1 83292 1.2006E-5 41646 0 3.18431E-5
4-8407760-G-A p.Pro233Leu missense ACOX3 5 83286 6.00341E-5 41643 0 2.47443E-5
4-8407760-G-C p.Pro233Arg missense ACOX3 1 83286 1.20068E-5 41643 0 8.2481E-6
4-8407761-G-A p.Pro233Ser missense ACOX3 1 83280 1.20077E-5 41640 0 8.24851E-6
4-8407762-G-C p.Asp232Glu missense ACOX3 1 83278 1.2008E-5 41639 0 8.24919E-6
4-8407766-C-T p.Arg231Gln missense ACOX3 2 83264 2.402E-5 41632 0 9.55718E-5
4-8407766-C-A p.Arg231Leu missense ACOX3 1 83264 1.201E-5 41632 0 8.25123E-6
4-8407767-G-A p.Arg231Trp missense ACOX3 2 83246 2.40252E-5 41623 0 4.12589E-5
4-8407768-GATCTATA-G p.Ile230fs frameshift ACOX3 1 83258 1.20109E-5 41629 0 8.2526E-6
4-8407777-A-ATGGG c.688-8_688-7insCCCA splice_region ACOX3 1 83202 1.20189E-5 41601 0 8.25696E-6
4-8411931-C-T c.687+8G>A splice_region ACOX3 1 83034 1.20433E-5 41517 0 1.71488E-5
4-8411932-G-A c.687+7C>T splice_region ACOX3 3 83070 3.61141E-5 41535 0 5.11073E-5
4-8411937-A-G c.687+2T>C splice_donor ACOX3 5 83136 6.01424E-5 41568 0 5.10074E-4
4-8411944-C-T p.Val228Met missense ACOX3 2 83184 2.40431E-5 41592 0 3.18817E-5
4-8411945-G-A p.Ile227Ile synonymous ACOX3 2 83200 2.40385E-5 41600 0 5.00676E-5
4-8411957-C-T p.Leu223Leu synonymous ACOX3 1 83274 1.20085E-5 41637 0 3.18573E-5
4-8411982-A-G p.Val215Ala missense ACOX3 1 83306 1.20039E-5 41653 0 1.19327E-5
4-8411989-G-A p.Leu213Leu synonymous ACOX3 1 83318 1.20022E-5 41659 0 6.25E-4
4-8411996-A-G p.Phe210Phe synonymous ACOX3 1 83330 1.20005E-5 41665 0 2.47321E-5
4-8412006-G-A p.Ala207Val missense ACOX3 6 83356 7.19804E-5 41678 0 6.37308E-5
4-8412007-C-T p.Ala207Thr missense ACOX3 2 83356 2.39935E-5 41678 0 8.24185E-6
4-8412008-G-A p.His206His synonymous ACOX3 4 83362 4.79835E-5 41681 0 8.35189E-5
4-8412013-T-A p.Thr205Ser missense ACOX3 1 83360 1.19962E-5 41680 0 NA
4-8412021-T-C p.Lys202Arg missense ACOX3 2 83364 2.39912E-5 41682 0 3.97735E-6
4-8412022-T-C p.Lys202Glu missense ACOX3 2 83362 2.39917E-5 41681 0 NA
4-8412028-T-C p.Met200Val missense ACOX3 2 83362 2.39917E-5 41681 0 3.18185E-5
4-8412032-G-T p.Gly198Gly synonymous ACOX3 3 83362 3.59876E-5 41681 0 2.38639E-5
4-8412048-G-A p.Ala193Val missense ACOX3 1 83380 1.19933E-5 41690 0 1.1932E-5
4-8412056-G-A p.Phe190Phe synonymous ACOX3 1 83380 1.19933E-5 41690 0 8.24701E-6
4-8412057-A-C p.Phe190Cys missense ACOX3 1 83382 1.1993E-5 41691 0 3.97735E-6
4-8412059-A-G p.Asp189Asp synonymous ACOX3 2 83378 2.39871E-5 41689 0 5.96621E-5
4-8412070-G-A p.His186Tyr missense ACOX3 2 83374 2.39883E-5 41687 0 1.2332E-4
4-8412073-T-A p.Ile185Leu missense ACOX3 1 83366 1.19953E-5 41683 0 NA
4-8412076-T-A p.Ile184Phe missense ACOX3 3 83368 3.5985E-5 41684 0 3.1839E-5
4-8412079-A-C p.Phe183Val missense ACOX3 2 83364 2.39912E-5 41682 0 NA
4-8412084-T-TCAGTGGCAGGATCGTAGTGGGCAGTTGTGCGAATGGCCTTG c.544-3_544-2insCAAGGCCATTCGCACAACTGCCCACTACGATCCTGCCACTG splice_region ACOX3 2 83358 2.39929E-5 41679 1 NA
4-8416012-T-A c.543+7A>T splice_region ACOX3 2 83330 2.4001E-5 41665 0 1.19297E-5
4-8416012-T-C c.543+7A>G splice_region ACOX3 1 83330 1.20005E-5 41665 0 NA
4-8416022-A-G p.Thr180Thr synonymous ACOX3 1 83366 1.19953E-5 41683 0 2.78352E-5
4-8416031-A-T p.Asp177Glu missense ACOX3 1 83368 1.1995E-5 41684 0 NA
4-8416032-T-C p.Asp177Gly missense ACOX3 2 83372 2.39889E-5 41686 0 8.23642E-6
4-8416033-C-T p.Asp177Asn missense ACOX3 13 83378 1.55916E-4 41689 0 4.37404E-5
4-8416034-G-A p.Tyr176Tyr synonymous ACOX3 3 83372 3.59833E-5 41686 0 3.29462E-5
4-8416045-T-C p.Thr173Ala missense ACOX3 1 83380 1.19933E-5 41690 0 4.77152E-5
4-8416047-G-A p.Thr172Ile missense ACOX3 1 83384 1.19927E-5 41692 0 NA
4-8416049-G-A p.Arg171Arg synonymous ACOX3 4 83390 4.79674E-5 41695 0 2.22669E-4
4-8416050-C-T p.Arg171His missense ACOX3 16 83380 1.91893E-4 41690 0 1.19287E-4
4-8416051-G-C p.Arg171Gly missense ACOX3 4 83384 4.79708E-5 41692 0 6.58924E-5
4-8416051-G-A p.Arg171Cys missense ACOX3 6 83384 7.19563E-5 41692 0 1.59051E-5
4-8416062-G-T p.Thr167Asn missense ACOX3 4 83374 4.79766E-5 41687 0 1.15312E-4
4-8416072-C-T p.Gly164Ser missense ACOX3 1 83372 1.19944E-5 41686 0 3.18837E-5
4-8416073-G-A p.His163His synonymous ACOX3 14 83374 1.67918E-4 41687 0 6.25E-4
4-8416077-C-T p.Ser162Asn missense ACOX3 2 83376 2.39877E-5 41688 0 3.97627E-6
4-8416084-C-T p.Glu160Lys missense ACOX3 1 83350 1.19976E-5 41675 0 9.56328E-5
4-8416085-G-A p.Thr159Thr synonymous ACOX3 1 83356 1.19967E-5 41678 0 1.23266E-4
4-8416086-G-A p.Thr159Ile missense ACOX3 1 83364 1.19956E-5 41682 0 8.23723E-6
4-8416086-G-C p.Thr159Ser missense ACOX3 1 83364 1.19956E-5 41682 0 NA
4-8416088-C-T p.Leu158Leu synonymous ACOX3 24 83364 2.87894E-4 41682 0 2.86862E-4
4-8416093-C-A p.Ala157Ser missense ACOX3 2 83356 2.39935E-5 41678 0 0.00100705
4-8416093-C-G p.Ala157Pro missense ACOX3 1 83356 1.19967E-5 41678 0 NA
4-8416094-A-G p.Phe156Phe synonymous ACOX3 1 83354 1.1997E-5 41677 0 NA
4-8416097-A-G p.Cys155Cys synonymous ACOX3 1 83356 1.19967E-5 41678 0 3.97643E-6
4-8416102-C-A p.Gly154* stop_gained ACOX3 7 83328 8.40054E-5 41664 0 4.1507E-4
4-8416104-AAAATCT-A p.Ile152fs frameshift ACOX3 1 83312 1.20031E-5 41656 0 NA
4-8416586-T-G p.Met150Leu missense ACOX3 980 83120 0.0117902 41560 14 0.033125
4-8416587-C-T p.Arg149Arg synonymous ACOX3 1 83134 1.20288E-5 41567 0 6.76014E-5
4-8416589-T-C p.Arg149Gly missense ACOX3 173 83152 0.00208053 41576 2 0.00956697
4-8416599-T-C p.Gln145Gln synonymous ACOX3 141 83166 0.0016954 41583 3 0.00344102
4-8416604-T-C p.Ile144Val missense ACOX3 3 83184 3.60646E-5 41592 1 7.95298E-6
4-8416605-A-G p.Tyr143Tyr synonymous ACOX3 2 83186 2.40425E-5 41593 0 NA
4-8416608-T-C p.Thr142Thr synonymous ACOX3 1 83190 1.20207E-5 41595 0 NA
4-8416612-A-T p.Leu141His missense ACOX3 3 83182 3.60655E-5 41591 0 1.19293E-5
4-8416625-A-G p.Ser137Pro missense ACOX3 1 83220 1.20163E-5 41610 0 NA
4-8416633-C-T p.Ser134Asn missense ACOX3 4 83204 4.80746E-5 41602 0 NA
4-8416640-C-G p.Val132Leu missense ACOX3 1 83192 1.20204E-5 41596 0 1.64823E-5
4-8417488-C-A c.378+5G>T splice_region ACOX3 2 83126 2.40599E-5 41563 0 2.48785E-5
4-8417493-C-T p.Leu126Leu splice_region+synonymous ACOX3 2 83158 2.40506E-5 41579 0 6.25782E-4
4-8417510-A-G p.Tyr121His missense ACOX3 2 83252 2.40234E-5 41626 0 NA
4-8417520-C-T p.Leu117Leu synonymous ACOX3 5 83306 6.00197E-5 41653 0 3.18735E-5
4-8417543-G-C p.Leu110Val missense ACOX3 1 83360 1.19962E-5 41680 0 NA
4-8417555-A-G p.Leu106Leu synonymous ACOX3 1 83364 1.19956E-5 41682 0 NA
4-8417558-C-T p.Ala105Thr missense ACOX3 9 83362 1.07963E-4 41681 0 1.73056E-4
4-8417559-G-A p.Pro104Pro synonymous ACOX3 1 83366 1.19953E-5 41683 0 6.25E-4
4-8417560-G-A p.Pro104Leu missense ACOX3 86 83368 0.00103157 41684 0 7.19728E-4
4-8417562-G-A p.Val103Val synonymous ACOX3 1 83366 1.19953E-5 41683 0 NA
4-8417584-A-G p.Met1? start_lost ACOX3 1 83368 1.1995E-5 41684 0 6.25E-4
4-8417587-T-A p.Asp95Val missense ACOX3 1 83370 1.19947E-5 41685 0 NA
4-8417591-C-T p.Glu94Lys missense ACOX3 1 83374 1.19941E-5 41687 0 4.11997E-5
4-8417597-T-C p.Ser92Gly missense ACOX3 4 83374 4.79766E-5 41687 0 NA
4-8417598-G-A p.Leu91Leu synonymous ACOX3 2 83376 2.39877E-5 41688 0 1.64813E-5
4-8417604-G-A p.Asp89Asp synonymous ACOX3 1 83380 1.19933E-5 41690 0 3.1837E-5
4-8417610-C-A p.Glu87Asp missense ACOX3 1 83376 1.19939E-5 41688 0 NA
4-8417620-C-T p.Arg84Gln missense ACOX3 61 83380 7.3159E-4 41690 0 0.00151057
4-8417621-G-A p.Arg84Trp missense ACOX3 3 83382 3.5979E-5 41691 0 2.47207E-5
4-8417629-C-T p.Arg81Gln missense ACOX3 31 83388 3.71756E-4 41694 0 2.34598E-4
4-8417630-G-A p.Arg81* stop_gained ACOX3 1 83386 1.19924E-5 41693 0 4.12011E-5
4-8417633-G-C p.Leu80Val missense ACOX3 1 83388 1.19921E-5 41694 0 NA
4-8417634-G-A p.Phe79Phe synonymous ACOX3 1 83388 1.19921E-5 41694 0 3.97633E-6
4-8417638-T-C p.Asn78Ser missense ACOX3 2 83388 2.39843E-5 41694 0 NA
4-8417640-C-T p.Leu77Leu synonymous ACOX3 1 83384 1.19927E-5 41692 0 3.97633E-6
4-8417644-T-A p.Glu76Val missense ACOX3 2 83384 2.39854E-5 41692 0 NA
4-8417645-C-T p.Glu76Lys missense ACOX3 2 83384 2.39854E-5 41692 0 9.55292E-5
4-8417645-C-A p.Glu76* stop_gained ACOX3 1 83384 1.19927E-5 41692 0 NA
4-8417646-G-A p.Arg75Arg synonymous ACOX3 184 83384 0.00220666 41692 0 0.009375
4-8417647-C-T p.Arg75His missense ACOX3 1 83386 1.19924E-5 41693 0 1.9882E-5
4-8417649-A-G p.Tyr74Tyr synonymous ACOX3 1 83384 1.19927E-5 41692 0 NA
4-8417657-C-T p.Glu72Lys missense ACOX3 1 83390 1.19918E-5 41695 0 3.9764E-6
4-8417662-G-A p.Ser70Phe missense ACOX3 2 83388 2.39843E-5 41694 0 NA
4-8417669-C-T p.Asp68Asn missense ACOX3 8 83386 9.59394E-5 41693 0 5.03525E-4
4-8417670-G-A c.-85C>T 5_prime_UTR_premature_start_codon_gain ACOX3 7 83386 8.39469E-5 41693 0 7.95286E-6
4-8417676-AG-A p.Pro65fs frameshift ACOX3 1 83374 1.19941E-5 41687 0 3.1839E-5
4-8417677-G-A p.Pro65Leu missense ACOX3 1 83374 1.19941E-5 41687 0 8.24783E-6
4-8417679-G-A p.Ser64Ser synonymous ACOX3 1 83380 1.19933E-5 41690 0 3.18492E-5
4-8417680-G-A p.Ser64Phe missense ACOX3 2 83378 2.39871E-5 41689 0 NA
4-8417683-C-T p.Arg63His missense ACOX3 14 83374 1.67918E-4 41687 0 4.14145E-4
4-8417684-G-C p.Arg63Gly missense ACOX3 1 83366 1.19953E-5 41683 0 5.03525E-4
4-8417684-G-A p.Arg63Cys missense ACOX3 1 83366 1.19953E-5 41683 0 1.65049E-5
4-8417685-A-G p.Ala62Ala synonymous ACOX3 1 83364 1.19956E-5 41682 0 NA
4-8417688-G-A c.-103C>T 5_prime_UTR_premature_start_codon_gain ACOX3 6 83366 7.19718E-5 41683 0 7.95336E-5
4-8417694-A-G p.Pro59Pro synonymous ACOX3 2 83356 2.39935E-5 41678 0 NA
4-8417695-G-C p.Pro59Arg missense ACOX3 1 83354 1.1997E-5 41677 0 1.6521E-5
4-8417712-T-C p.Ser53Ser synonymous ACOX3 6 83304 7.20254E-5 41652 0 3.82239E-4
4-8417720-T-C p.Ile51Val missense ACOX3 1 83258 1.20109E-5 41629 0 3.18532E-5
4-8417721-G-C p.Thr50Thr synonymous ACOX3 1 83250 1.2012E-5 41625 0 8.30344E-6
4-8417721-G-A p.Thr50Thr synonymous ACOX3 1 83250 1.2012E-5 41625 0 NA
4-8417726-T-C p.Lys49Glu missense+splice_region ACOX3 6 83210 7.21067E-5 41605 0 1.95022E-4
4-8417728-T-TTAAAGCGGAGCATGCCCTCCCCTTCCGTGAACAGC c.145-3_145-2insGCTGTTCACGGAAGGGGAGGGCATGCTCCGCTTTA splice_region ACOX3 2 83194 2.40402E-5 41597 1 NA
4-8418097-C-T c.144+8G>A splice_region ACOX3 57 83210 6.85014E-4 41605 0 6.25E-4
4-8418098-G-A c.144+7C>T splice_region ACOX3 58 83204 6.97082E-4 41602 0 0.00152905
4-8418104-C-A c.144+1G>T splice_donor ACOX3 1 83254 1.20114E-5 41627 0 1.59089E-5
4-8418112-C-T p.Arg46His missense ACOX3 3 83290 3.60187E-5 41645 0 5.77491E-5
4-8418113-G-A p.Arg46Cys missense ACOX3 3 83304 3.60127E-5 41652 0 5.96588E-5
4-8418118-A-G p.Met44Thr missense ACOX3 4 83304 4.80169E-5 41652 0 6.36335E-5
4-8418119-T-G p.Met44Leu missense ACOX3 5 83306 6.00197E-5 41653 0 0.00100806
4-8418120-G-A p.Gly43Gly synonymous ACOX3 1 83298 1.20051E-5 41649 0 1.40197E-4
4-8418132-C-T p.Thr39Thr synonymous ACOX3 4 83310 4.80134E-5 41655 0 3.18552E-5
4-8418133-G-C p.Thr39Arg missense ACOX3 1 83302 1.20045E-5 41651 0 NA
4-8418141-C-T p.Ala36Ala synonymous ACOX3 24 83292 2.88143E-4 41646 0 1.31944E-4
4-8418142-G-A p.Ala36Val missense ACOX3 2 83292 2.40119E-5 41646 0 1.27437E-4
4-8418148-T-G p.Glu34Ala missense ACOX3 968 83268 0.0116251 41634 13 0.033125
4-8418156-G-A p.Ser31Ser synonymous ACOX3 4 83272 4.80354E-5 41636 0 3.30022E-5
4-8418157-C-G p.Ser31Thr missense ACOX3 2 83270 2.40183E-5 41635 0 NA
4-8418157-C-T p.Ser31Asn missense ACOX3 1 83270 1.20091E-5 41635 0 1.65006E-5
4-8418161-A-G p.Phe30Leu missense ACOX3 2 83274 2.40171E-5 41637 0 NA
4-8418161-AG-A p.Phe30fs frameshift ACOX3 1 83272 1.20088E-5 41636 0 NA
4-8418165-C-T p.Ala28Ala synonymous ACOX3 179 83254 0.00215005 41627 3 0.00449045
4-8418166-G-A p.Ala28Val missense ACOX3 6 83246 7.20755E-5 41623 0 6.36983E-5
4-8418172-GCT-G p.Ala26fs frameshift ACOX3 2 83262 2.40206E-5 41631 0 3.1837E-5
4-8418175-C-T p.Arg25Gln missense ACOX3 2 83254 2.40229E-5 41627 0 1.65183E-5
4-8418176-G-A p.Arg25* stop_gained ACOX3 2 83248 2.40246E-5 41624 0 3.18431E-5
4-8418176-G-C p.Arg25Gly missense ACOX3 1 83248 1.20123E-5 41624 0 NA
4-8418185-C-G p.Asp22His missense ACOX3 2 83216 2.40338E-5 41608 0 8.26501E-6
4-8418185-C-T p.Asp22Asn missense ACOX3 2 83216 2.40338E-5 41608 0 3.18492E-5
4-8418186-G-A p.Leu21Leu synonymous ACOX3 12 83210 1.44213E-4 41605 0 1.59266E-4
4-8418189-G-C p.Pro20Pro synonymous ACOX3 1 83214 1.20172E-5 41607 0 NA
4-8418213-C-A p.Leu12Leu synonymous ACOX3 1 83152 1.20262E-5 41576 0 NA
4-8418213-C-G p.Leu12Leu synonymous ACOX3 1 83152 1.20262E-5 41576 0 NA
4-8418215-G-C p.Leu12Val missense ACOX3 4 83178 4.80896E-5 41589 0 5.03525E-4
4-8418219-T-A p.Thr10Thr synonymous ACOX3 1 83176 1.20227E-5 41588 0 3.18492E-5
4-8418224-C-T p.Asp9Asn missense ACOX3 1 83152 1.20262E-5 41576 0 0.00100705
4-8418225-G-A p.Gly8Gly synonymous ACOX3 2 83126 2.40599E-5 41563 0 3.18634E-5
4-8418226-C-T p.Gly8Asp missense ACOX3 4 83128 4.81186E-5 41564 0 NA
4-8418229-C-T p.Gly7Glu missense ACOX3 1 83128 1.20296E-5 41564 0 NA
4-8418235-A-G p.Val5Ala missense ACOX3 1 83102 1.20334E-5 41551 0 NA
4-8418238-G-A p.Thr4Ile missense ACOX3 1 83110 1.20322E-5 41555 0 1.70094E-5
4-8418252-G-A c.-4C>T 5_prime_UTR_premature_start_codon_gain ACOX3 1 82996 1.20488E-5 41498 0 3.18552E-5
4-8442376-C-T c.-16G>A splice_region ACOX3 16 29794 5.37021E-4 14897 0 NA
4-8442422-A-C c.-62T>G 5_prime_UTR_premature_start_codon_gain ACOX3 1 41050 2.43605E-5 20525 0 NA