Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-134123392-G-A c.-103G>A 5_prime_UTR_premature_start_codon_gain ACAD8 6 75112 7.98807E-5 37556 0 1.2747E-4
11-134123397-G-A c.-98G>A 5_prime_UTR_premature_start_codon_gain ACAD8 1 75074 1.33202E-5 37537 0 NA
11-134123409-T-C c.-86T>C 5_prime_UTR_premature_start_codon_gain ACAD8 7 74726 9.36756E-5 37363 0 NA
11-134123409-T-A c.-86T>A 5_prime_UTR_premature_start_codon_gain ACAD8 1 74726 1.33822E-5 37363 0 NA
11-134123444-C-T c.-51C>T 5_prime_UTR_premature_start_codon_gain ACAD8 3 75860 3.95465E-5 37930 0 5.87406E-5
11-134123480-G-T c.-15G>T 5_prime_UTR_premature_start_codon_gain ACAD8 1 77092 1.29715E-5 38546 0 5.60174E-6
11-134123496-T-C p.Met1? start_lost ACAD8 2 77076 2.59484E-5 38538 0 4.0853E-5
11-134123497-G-T p.Met1? start_lost ACAD8 1 77024 1.2983E-5 38512 0 8.10373E-5
11-134123497-G-A p.Met1? start_lost ACAD8 1 77024 1.2983E-5 38512 0 NA
11-134123506-C-G p.Ser4Arg missense ACAD8 1 76368 1.30945E-5 38184 0 4.02544E-5
11-134123508-G-C p.Gly5Ala missense ACAD8 1 76362 1.30955E-5 38181 0 5.37941E-6
11-134123512-C-G p.Cys6Trp missense ACAD8 1 74688 1.3389E-5 37344 0 1.53586E-4
11-134123514-G-C p.Arg7Pro missense ACAD8 361 74532 0.00484356 37266 7 0.0103415
11-134123524-G-GGC p.Leu13fs frameshift ACAD8 1 75070 1.33209E-5 37535 0 3.19224E-5
11-134123528-C-T p.Arg12Cys missense ACAD8 1 74124 1.34909E-5 37062 0 1.6587E-4
11-134123544-C-T p.Pro17Leu missense ACAD8 1 75578 1.32314E-5 37789 0 NA
11-134123554-C-T p.Leu20Leu synonymous ACAD8 1 75862 1.31818E-5 37931 0 4.6743E-6
11-134123561-C-G p.Leu23Val missense ACAD8 1 76192 1.31247E-5 38096 0 NA
11-134123571-C-T p.Thr26Ile missense ACAD8 1 76460 1.30787E-5 38230 0 NA
11-134123573-G-A p.Gly27Ser missense ACAD8 3 76424 3.92547E-5 38212 0 3.19101E-5
11-134123589-C-A p.Thr32Asn missense ACAD8 1 76592 1.30562E-5 38296 0 2.45074E-5
11-134123604-G-A c.109+1G>A splice_donor ACAD8 1 76210 1.31216E-5 38105 0 4.88267E-6
11-134123609-G-T c.109+6G>T splice_region ACAD8 1 76020 1.31544E-5 38010 0 NA
11-134126434-G-C c.110-8G>C splice_region ACAD8 2 83172 2.40466E-5 41586 0 3.18451E-5
11-134126438-A-G c.110-4A>G splice_region ACAD8 2 83192 2.40408E-5 41596 0 8.27582E-6
11-134126461-A-G p.Lys2Arg missense ACAD8 1 83324 1.20013E-5 41662 0 3.9764E-6
11-134126468-A-T p.Lys46* stop_gained ACAD8 1 83326 1.20011E-5 41663 0 NA
11-134126481-A-G p.Lys50Arg missense ACAD8 1 83330 1.20005E-5 41665 0 NA
11-134126482-A-G p.Lys9Arg missense ACAD8 1 83340 1.1999E-5 41670 0 NA
11-134126488-C-T p.Pro11Leu missense ACAD8 6 83338 7.1996E-5 41669 0 2.22916E-4
11-134126491-T-G p.Phe53Leu missense ACAD8 1 83338 1.19993E-5 41669 0 3.9763E-6
11-134126497-T-C p.Leu14Ser missense ACAD8 1 83338 1.19993E-5 41669 0 NA
11-134126501-GC-G p.Arg58fs frameshift ACAD8 1 83332 1.20002E-5 41666 0 NA
11-134126505-G-T p.Glu17* stop_gained ACAD8 1 83334 1.19999E-5 41667 0 NA
11-134126505-G-A p.Arg58Gln missense ACAD8 22 83334 2.63998E-4 41667 1 0.00151057
11-134126510-A-G p.Met60Val missense ACAD8 6 83334 7.19994E-5 41667 0 1.59256E-4
11-134126527-A-C p.Gln24Pro missense ACAD8 2 83314 2.40056E-5 41657 0 NA
11-134126539-G-A p.Arg28Lys missense ACAD8 7 83288 8.40457E-5 41644 0 7.15956E-5
11-134126548-C-T c.210+6C>T splice_region ACAD8 391 83206 0.00469918 41603 5 0.00821918
11-134126549-G-T c.210+7G>T splice_region ACAD8 1 83238 1.20137E-5 41619 0 NA
11-134126978-A-G c.211-4A>G splice_region ACAD8 1137 81554 0.0139417 40777 12 0.0109754
11-134127004-T-C p.Met1? start_lost ACAD8 1 82082 1.21829E-5 41041 0 1.64745E-5
11-134127006-C-T p.Arg79Trp missense ACAD8 2 82096 2.43617E-5 41048 0 1.64747E-5
11-134127007-G-A p.Arg79Gln missense ACAD8 5 82204 6.08243E-5 41102 0 3.19175E-5
11-134127019-A-G p.Gln83Arg missense ACAD8 1 82426 1.21321E-5 41213 0 NA
11-134127024-G-C p.Gly85Arg missense ACAD8 1 82574 1.21103E-5 41287 0 NA
11-134127027-T-G p.Phe86Val missense ACAD8 1 82584 1.21089E-5 41292 0 NA
11-134127029-C-G p.Phe86Leu missense ACAD8 2 82578 2.42195E-5 41289 0 NA
11-134127030-G-A p.Gly87Arg missense ACAD8 2 82654 2.41973E-5 41327 0 1.99173E-5
11-134127046-A-G p.Gln92Arg missense ACAD8 1 83020 1.20453E-5 41510 0 NA
11-134127057-G-A p.Gly96Ser missense ACAD8 1 83084 1.2036E-5 41542 0 1.15396E-4
11-134127059-C-T p.Arg63Trp missense ACAD8 1 83072 1.20378E-5 41536 0 8.23696E-6
11-134127061-G-A p.Gly97Glu missense ACAD8 2 83094 2.40691E-5 41547 0 3.97912E-6
11-134127063-T-C p.Ser98Pro missense ACAD8 1 83072 1.20378E-5 41536 0 3.18796E-5
11-134127066-G-A p.Trp65* stop_gained ACAD8 2 83092 2.40697E-5 41546 0 3.97864E-6
11-134127076-G-T p.Arg102Leu missense ACAD8 5 83100 6.01685E-5 41550 0 9.55536E-5
11-134127076-G-A p.Arg102His missense ACAD8 1 83102 1.20334E-5 41551 0 7.95691E-6
11-134127094-T-A p.Ile108Asn missense ACAD8 1 83066 1.20386E-5 41533 0 7.95691E-6
11-134127097-T-A p.Phe109Tyr missense ACAD8 1 83050 1.20409E-5 41525 0 NA
11-134127108-G-A p.Ala113Thr missense ACAD8 4 82948 4.8223E-5 41474 0 3.29761E-5
11-134127110-T-TGGAATCGCTCAGCCAGCAGGAA p.Thr114fs frameshift ACAD8 1 82946 1.2056E-5 41473 0 NA
11-134127136-A-T p.Tyr122Phe missense ACAD8 1 82636 1.21013E-5 41318 0 1.64821E-5
11-134127138-A-G p.Ile123Val missense ACAD8 1 82606 1.21057E-5 41303 0 NA
11-134127139-TAAGCATCCAC-T p.Thr114fs frameshift ACAD8 1 82588 1.21083E-5 41294 0 8.24117E-6
11-134127139-T-A p.Ile123Lys missense ACAD8 1 82588 1.21083E-5 41294 0 7.96483E-6
11-134127146-C-G p.Ile125Met missense ACAD8 1 82424 1.21324E-5 41212 0 3.98432E-6
11-134127158-GC-G c.380+8delC splice_region ACAD8 7 82074 8.52889E-5 41037 0 1.91058E-4
11-134128412-G-A p.Met128Ile missense ACAD8 8 83186 9.617E-5 41593 0 2.23599E-4
11-134128427-T-C p.Ter77Argext*? stop_lost ACAD8 1 83268 1.20094E-5 41634 0 2.63417E-5
11-134128428-G-T p.Ter77Leuext*? stop_lost ACAD8 4 83266 4.80388E-5 41633 0 6.3804E-5
11-134128430-T-C p.Asp134Asp synonymous ACAD8 1 83272 1.20088E-5 41636 0 2.62339E-5
11-134128436-C-T p.Phe136Phe synonymous ACAD8 6 83282 7.20444E-5 41641 0 5.03525E-4
11-134128437-G-A p.Gly137Arg missense ACAD8 7 83278 8.40558E-5 41639 0 3.18918E-5
11-134128442-TGAG-T p.Glu140del disruptive_inframe_deletion ACAD8 2 83290 2.40125E-5 41645 0 NA
11-134128443-G-A p.Glu139Lys missense ACAD8 1 83288 1.20065E-5 41644 0 NA
11-134128459-A-G p.Lys144Arg missense ACAD8 1 83308 1.20036E-5 41654 0 3.98026E-6
11-134128469-A-G p.Pro147Pro synonymous ACAD8 7 83308 8.40255E-5 41654 0 4.77981E-4
11-134128471-C-T p.Pro148Leu missense ACAD8 2 83290 2.40125E-5 41645 0 5.14297E-5
11-134128472-G-T p.Pro148Pro synonymous ACAD8 1 83280 1.20077E-5 41640 0 1.88501E-4
11-134128472-G-A p.Pro148Pro synonymous ACAD8 1 83282 1.20074E-5 41641 0 5.03525E-4
11-134128483-T-C p.Met152Thr missense ACAD8 6 83280 7.20461E-5 41640 0 7.79666E-5
11-134128490-GT-G p.Phe155fs frameshift ACAD8 1 83272 1.20088E-5 41636 0 NA
11-134128494-G-T p.Ala156Ser missense ACAD8 3 83262 3.60308E-5 41631 0 1.35519E-4
11-134128506-C-T p.Leu160Phe missense ACAD8 2 83208 2.40361E-5 41604 0 NA
11-134128509-A-G p.Thr161Ala missense ACAD8 10 83192 1.20204E-4 41596 0 1.27747E-4
11-134128894-C-T c.491-8C>T splice_region ACAD8 2 83208 2.40361E-5 41604 0 1.97707E-4
11-134128895-T-C c.491-7T>C splice_region ACAD8 1 83218 1.20166E-5 41609 0 3.97662E-6
11-134128897-C-T c.491-5C>T splice_region ACAD8 1 83228 1.20152E-5 41614 0 NA
11-134128905-G-C p.Ser165Thr missense ACAD8 1 83274 1.20085E-5 41637 0 3.18431E-5
11-134128923-C-G p.Ser171Cys missense ACAD8 1331 83280 0.0159822 41640 4 0.014334
11-134128931-AC-A p.Ser175fs frameshift ACAD8 1 83310 1.20034E-5 41655 0 3.18898E-5
11-134128936-C-T p.Ser175Ser synonymous ACAD8 3 83304 3.60127E-5 41652 0 3.29527E-5
11-134128937-G-A p.Ala176Thr missense ACAD8 1 83298 1.20051E-5 41649 0 1.64761E-5
11-134128938-C-G p.Ala176Gly missense ACAD8 1 83304 1.20042E-5 41652 0 3.9763E-6
11-134128940-A-G p.Lys177Glu missense ACAD8 1 83302 1.20045E-5 41651 0 2.3858E-5
11-134128946-C-T p.Gln179* stop_gained ACAD8 1 83300 1.20048E-5 41650 0 NA
11-134128949-G-C p.Gly180Arg missense ACAD8 1 83294 1.20057E-5 41647 0 6.37146E-5
11-134128959-A-C p.Tyr183Ser missense ACAD8 1 83292 1.2006E-5 41646 0 NA
11-134128968-A-G p.Asn186Ser missense ACAD8 3 83256 3.60334E-5 41628 0 1.31909E-4
11-134128969-T-C p.Asn186Asn synonymous ACAD8 1 83256 1.20111E-5 41628 0 NA
11-134128979-G-A c.567+1G>A splice_donor ACAD8 1 83244 1.20129E-5 41622 0 8.26255E-6
11-134128986-C-T c.567+8C>T splice_region ACAD8 10 83190 1.20207E-4 41595 0 1.59297E-4
11-134129500-A-T c.568-2A>T splice_acceptor ACAD8 2 83290 2.40125E-5 41645 0 3.97643E-6
11-134129508-A-C p.Ile192Leu missense ACAD8 1 83330 1.20005E-5 41665 0 NA
11-134129539-T-C p.Val202Ala missense ACAD8 1 83388 1.19921E-5 41694 0 NA
11-134129540-G-A p.Val202Val synonymous ACAD8 1 83388 1.19921E-5 41694 0 NA
11-134129541-G-A p.Val203Ile missense ACAD8 15 83388 1.79882E-4 41694 0 1.27356E-4
11-134129549-C-T p.Cys205Cys synonymous ACAD8 1 83392 1.19916E-5 41696 0 3.29468E-5
11-134129550-C-T p.Arg206* stop_gained ACAD8 2 83396 2.3982E-5 41698 0 3.97627E-6
11-134129551-G-A p.Arg206Gln missense ACAD8 1 83396 1.1991E-5 41698 0 6.58935E-5
11-134129576-C-G p.Gly214Gly synonymous ACAD8 1 83422 1.19872E-5 41711 0 NA
11-134129589-G-A p.Val219Ile missense ACAD8 1 83414 1.19884E-5 41707 0 NA
11-134129601-G-A p.Gly223Arg missense ACAD8 1 83406 1.19895E-5 41703 0 NA
11-134129640-G-GT c.705+2dupT splice_region ACAD8 1 83366 1.19953E-5 41683 0 NA
11-134129642-G-T c.705+3G>T splice_region ACAD8 1 83360 1.19962E-5 41680 0 7.95741E-6
11-134129647-G-A c.705+8G>A splice_region ACAD8 1 83348 1.19979E-5 41674 0 2.786E-5
11-134129738-C-T n.565C>T splice_region ACAD8 1 81864 1.22154E-5 40932 0 4.57268E-6
11-134129817-C-T n.1260C>T splice_region ACAD8 2 77078 2.59477E-5 38539 0 NA
11-134130174-T-C n.1069T>C splice_region ACAD8 2287 3224 0.709367 1612 707 0.967106
11-134130930-T-G c.706-8T>G splice_region ACAD8 1 82330 1.21462E-5 41165 0 1.21817E-5
11-134130933-G-A c.706-5G>A splice_region ACAD8 2 82316 2.42966E-5 41158 0 4.91652E-5
11-134130943-G-A p.Gly237Gly synonymous ACAD8 3 82478 3.63733E-5 41239 0 0.00100705
11-134130962-C-G p.Arg244Gly missense ACAD8 2 82722 2.41774E-5 41361 0 9.56608E-6
11-134130962-C-T p.Arg244* stop_gained ACAD8 2 82722 2.41774E-5 41361 0 1.91322E-5
11-134130976-C-T p.Phe248Phe synonymous ACAD8 4 82792 4.83138E-5 41396 0 0.0015121
11-134130985-T-C p.Cys251Cys synonymous ACAD8 1 82880 1.20656E-5 41440 0 NA
11-134130994-T-C p.Pro254Pro synonymous ACAD8 7 82912 8.44269E-5 41456 0 1.27421E-4
11-134130999-C-A p.Ala256Asp missense ACAD8 1 82924 1.20592E-5 41462 0 1.88979E-5
11-134131003-C-T p.Asn257Asn synonymous ACAD8 1 82910 1.20613E-5 41455 0 NA
11-134131015-C-T p.Ser261Ser synonymous ACAD8 1 82946 1.2056E-5 41473 0 3.18613E-5
11-134131016-G-A p.Glu262Lys missense ACAD8 7 82960 8.4378E-5 41480 0 9.5511E-5
11-134131018-G-A p.Glu262Glu synonymous ACAD8 1 82978 1.20514E-5 41489 0 NA
11-134131022-C-G p.Gln264Glu missense ACAD8 1 82976 1.20517E-5 41488 0 NA
11-134131027-C-T p.Gly265Gly synonymous ACAD8 2 83000 2.40964E-5 41500 0 1.62894E-5
11-134131033-C-T p.Leu267Leu synonymous ACAD8 237 83018 0.0028548 41509 3 0.00716424
11-134131036-T-C p.Ile268Ile synonymous ACAD8 7 83030 8.43069E-5 41515 0 4.59779E-5
11-134131036-T-G p.Ile268Met missense ACAD8 1 83030 1.20438E-5 41515 0 9.19557E-6
11-134131038-C-T p.Ala269Val missense ACAD8 1 83044 1.20418E-5 41522 0 NA
11-134131039-C-T p.Ala269Ala synonymous ACAD8 4 83040 4.81696E-5 41520 0 6.36821E-5
11-134131040-G-A p.Val270Met missense ACAD8 3 83050 3.61228E-5 41525 0 3.18471E-5
11-134131055-G-A p.Gly275Arg missense ACAD8 1 83094 1.20346E-5 41547 0 2.42213E-5
11-134131057-A-T p.Gly275Gly synonymous ACAD8 2 83112 2.40639E-5 41556 0 2.41935E-5
11-134131065-T-C p.Ile278Thr missense ACAD8 1 83126 1.20299E-5 41563 0 4.02282E-6
11-134131072-TGGTGAGATACGCAGGGGTGTGGCAGGGAGGTAGCGGTCCGGGACAGGCACTGCTGTTTTCCAGCTTGGTTGGAACGTCGGCGCTCTTCCCCTCTA-T p.Ala281fs frameshift ACAD8 8 83130 9.62348E-5 41565 1 NA
11-134131079-A-C c.841+6A>C splice_region ACAD8 1 83142 1.20276E-5 41571 0 6.37064E-5
11-134131080-T-C c.841+7T>C splice_region ACAD8 1777 83118 0.0213792 41559 108 0.0435281
11-134131161-C-G c.842-8C>G splice_region ACAD8 193 83262 0.00231798 41631 3 0.00410854
11-134131173-C-G p.Ser282Ser synonymous ACAD8 12 83308 1.44044E-4 41654 0 6.36902E-5
11-134131190-C-T p.Ala288Val missense ACAD8 2 83314 2.40056E-5 41657 0 NA
11-134131194-C-T p.His289His synonymous ACAD8 1 83322 1.20016E-5 41661 0 2.4715E-5
11-134131195-G-A p.Ala290Thr missense ACAD8 3 83320 3.60058E-5 41660 0 1.19293E-5
11-134131195-G-T p.Ala290Ser missense ACAD8 2 83320 2.40038E-5 41660 0 NA
11-134131195-GC-G p.Ser291fs frameshift ACAD8 2 83320 2.40038E-5 41660 0 3.18715E-5
11-134131204-A-G p.Ile293Val missense ACAD8 1 83330 1.20005E-5 41665 0 3.97636E-6
11-134131207-C-A p.Leu294Ile missense ACAD8 1 83336 1.19996E-5 41668 0 NA
11-134131214-G-A p.Arg296Gln missense ACAD8 14 83328 1.68011E-4 41664 0 6.25E-4
11-134131219-C-T p.His298Tyr missense ACAD8 3 83330 3.60014E-5 41665 0 3.97633E-6
11-134131222-C-T p.Leu299Phe missense ACAD8 3 83332 3.60006E-5 41666 0 3.18492E-5
11-134131226-A-G p.Asn300Ser missense ACAD8 1 83332 1.20002E-5 41666 0 NA
11-134131231-C-T p.Arg302Trp missense ACAD8 1 83344 1.19985E-5 41672 0 8.23791E-6
11-134131232-G-A p.Arg302Gln missense ACAD8 2 83348 2.39958E-5 41674 0 4.374E-5
11-134131272-C-T c.939+6C>T splice_region ACAD8 1 83270 1.20091E-5 41635 0 8.24131E-6
11-134131497-A-C c.*539-4A>C splice_region ACAD8 1 76070 1.31458E-5 38035 0 NA
11-134131509-A-G p.Gln218Gln synonymous ACAD8 6222 77236 0.0805583 38618 254 0.124565
11-134131515-T-G p.Thr220Thr synonymous ACAD8 1 78250 1.27796E-5 39125 0 NA
11-134131517-T-G p.Leu221Trp missense ACAD8 2 78434 2.54991E-5 39217 0 2.22533E-4
11-134131520-A-T p.Lys222Met missense ACAD8 1 78702 1.27062E-5 39351 0 NA
11-134131526-G-A p.Trp224* stop_gained ACAD8 1 79230 1.26215E-5 39615 0 NA
11-134131533-T-G p.Thr226Thr synonymous ACAD8 1 79774 1.25354E-5 39887 0 4.62877E-5
11-134131637-G-A p.Leu315Leu synonymous ACAD8 1 82896 1.20633E-5 41448 0 NA
11-134131638-C-G p.Gln316Glu missense ACAD8 3 82888 3.61934E-5 41444 0 3.18471E-5
11-134131640-A-G p.Gln316Gln synonymous ACAD8 5 82930 6.02918E-5 41465 0 4.12902E-5
11-134131643-C-T p.Phe317Phe synonymous ACAD8 1 82980 1.20511E-5 41490 0 3.30273E-5
11-134131650-G-A p.Ala320Thr missense ACAD8 22 83016 2.65009E-4 41508 0 0.00375
11-134131657-T-C p.Met322Thr missense ACAD8 2 83032 2.40871E-5 41516 0 3.30136E-5
11-134131657-T-G p.Met322Arg missense ACAD8 1 83032 1.20435E-5 41516 0 1.65068E-5
11-134131667-G-C p.Arg325Ser missense ACAD8 1 83086 1.20357E-5 41543 0 3.98194E-6
11-134131668-C-T p.Leu326Leu synonymous ACAD8 1 83092 1.20349E-5 41546 0 3.9807E-6
11-134131676-C-T p.Ala328Ala synonymous ACAD8 24 83104 2.88795E-4 41552 1 0.00151362
11-134131677-G-A p.Ala329Thr missense ACAD8 9 83094 1.08311E-4 41547 0 0.00100908
11-134131678-C-T p.Ala329Val missense ACAD8 5 83076 6.01859E-5 41538 0 6.36902E-5
11-134131680-C-T p.Arg330Trp missense ACAD8 1 83130 1.20294E-5 41565 0 6.25E-4
11-134131681-G-A p.Arg330Gln missense ACAD8 4 83150 4.81058E-5 41575 0 1.65096E-5
11-134131689-G-A p.Val333Ile missense ACAD8 1 83182 1.20218E-5 41591 0 NA
11-134131693-G-A p.Arg334His missense ACAD8 2 83200 2.40385E-5 41600 0 1.65087E-5
11-134131694-C-A p.Arg334Arg synonymous ACAD8 2 83206 2.40367E-5 41603 0 0.0015121
11-134131728-G-A p.Asp346Asn missense ACAD8 19 83234 2.28272E-4 41617 0 2.47823E-5
11-134131732-C-T p.Ala347Val missense ACAD8 1 83226 1.20155E-5 41613 0 NA
11-134131733-A-G p.Ala347Ala synonymous ACAD8 1 83230 1.20149E-5 41615 0 NA
11-134131747-C-T p.Ser352Phe missense ACAD8 1 83212 1.20175E-5 41606 0 NA
11-134131749-A-G p.Met353Val missense ACAD8 1 83210 1.20178E-5 41605 0 NA
11-134131750-T-C p.Met353Thr missense ACAD8 1 83208 1.20181E-5 41604 0 NA
11-134131756-A-G p.Lys355Arg missense ACAD8 2 83194 2.40402E-5 41597 0 3.18492E-5
11-134131757-G-A p.Lys355Lys synonymous ACAD8 1 83182 1.20218E-5 41591 0 8.28308E-6
11-134131783-C-T p.Ala364Val missense+splice_region ACAD8 1 82954 1.20549E-5 41477 0 NA
11-134131784-C-T p.Ala364Ala splice_region+synonymous ACAD8 6 82934 7.23467E-5 41467 0 6.25E-4
11-134132028-G-A n.951G>A splice_region ACAD8 3 25200 1.19048E-4 12600 0 6.25E-4
11-134132080-GT-G p.Phe1fs frameshift ACAD8 1 18202 5.4939E-5 9101 0 NA
11-134132103-C-A p.Ala8Asp missense ACAD8 2 17522 1.14142E-4 8761 0 5.43757E-5
11-134132115-A-T p.Asn12Ile missense ACAD8 2 17800 1.1236E-4 8900 0 NA
11-134132153-G-T p.Ala25Ser missense ACAD8 1 20874 4.79065E-5 10437 0 1.00847E-4
11-134132157-C-T p.Ala26Val missense ACAD8 1148 21242 0.0540439 10621 22 0.0695577
11-134132168-C-T p.Gln30* stop_gained ACAD8 43 22984 0.00187087 11492 0 0.0065626
11-134132406-C-T c.1093-8C>T splice_region ACAD8 1 82388 1.21377E-5 41194 0 NA
11-134132434-G-C p.Gln371His missense ACAD8 1 82910 1.20613E-5 41455 0 NA
11-134132440-C-T p.His373His synonymous ACAD8 4 82956 4.82183E-5 41478 0 1.99349E-5
11-134132444-G-A p.Gly375Ser missense ACAD8 1 83012 1.20465E-5 41506 0 1.71356E-5
11-134132449-C-T p.Tyr376Tyr synonymous ACAD8 4 83058 4.81591E-5 41529 0 1.27453E-4
11-134132450-G-A p.Gly377Ser missense ACAD8 15 83048 1.80618E-4 41524 0 2.54907E-4
11-134132467-C-T p.Tyr382Tyr synonymous ACAD8 26 83118 3.12808E-4 41559 1 9.55475E-5
11-134132468-G-A p.Ala383Thr missense ACAD8 6 83116 7.21883E-5 41558 0 6.36943E-5
11-134132475-A-G p.Gln385Arg missense ACAD8 3 83150 3.60794E-5 41575 0 7.96299E-5
11-134132478-A-G p.Gln386Arg missense ACAD8 2 83140 2.40558E-5 41570 0 6.25E-4
11-134132482-C-T p.Tyr387Tyr synonymous ACAD8 3 83132 3.60872E-5 41566 0 3.39455E-5
11-134132483-G-A p.Val388Met missense ACAD8 51 83126 6.13526E-4 41563 0 9.5584E-4
11-134132483-G-T p.Val388Leu missense ACAD8 1 83128 1.20296E-5 41564 0 3.98241E-6
11-134132486-C-T p.Arg389Trp missense ACAD8 2 83126 2.40599E-5 41563 0 2.55389E-5
11-134132492-T-C p.Ser391Pro missense ACAD8 1 83112 1.2032E-5 41556 0 1.71016E-5
11-134132493-C-T p.Ser391Phe missense ACAD8 1 83096 1.20343E-5 41548 0 NA
11-134132500-C-T p.Val393Val synonymous ACAD8 1 83068 1.20383E-5 41534 0 NA
11-134132658-C-G c.194-6C>G splice_region ACAD8 1 69722 1.43427E-5 34861 0 7.39514E-6
11-134132659-C-T c.194-5C>T splice_region ACAD8 23 69210 3.32322E-4 34605 0 0.00101439
11-134132660-G-A c.194-4G>A splice_region ACAD8 321 68508 0.00468558 34254 4 0.00841139
11-134132661-C-T c.194-3C>T splice_region ACAD8 2 68404 2.92381E-5 34202 0 NA
11-134132674-G-A p.Trp68* stop_gained ACAD8 1 64270 1.55594E-5 32135 0 1.50137E-5
11-134132678-G-C p.Gly70Arg missense ACAD8 1 63018 1.58685E-5 31509 0 3.18512E-5
11-134132680-G-C p.Gly70Gly synonymous ACAD8 3789 61618 0.0614918 30809 192 0.113697
11-134132681-C-A p.Pro71Thr missense ACAD8 1 61980 1.61342E-5 30990 0 NA
11-134132681-C-T p.Pro71Ser missense ACAD8 1 61980 1.61342E-5 30990 0 NA
11-134132696-C-T p.Arg76Cys missense ACAD8 17 56960 2.98455E-4 28480 0 6.69003E-4
11-134132697-G-A p.Arg76His missense ACAD8 37 56528 6.54543E-4 28264 0 0.00595023
11-134132704-C-T p.Phe78Phe synonymous ACAD8 3354 53780 0.0623652 26890 187 0.113754
11-134132705-G-T p.Val79Phe missense ACAD8 2 53570 3.73343E-5 26785 0 NA
11-134132713-C-T p.Phe81Phe synonymous ACAD8 1 51346 1.94757E-5 25673 0 3.06984E-5
11-134132714-G-A p.Gly82Arg missense ACAD8 500 50542 0.00989276 25271 3 0.00869427
11-134132714-G-T p.Gly82Trp missense ACAD8 3 50556 5.93401E-5 25278 0 7.67625E-6
11-134132718-G-T p.Gly83Val missense ACAD8 1 49864 2.00545E-5 24932 0 3.1841E-5
11-134132722-T-G p.Pro84Pro synonymous ACAD8 67 49176 0.00136245 24588 0 0.00222181
11-134132725-G-T p.Gln85His missense ACAD8 2 48522 4.12184E-5 24261 0 3.18451E-5
11-134132725-G-C p.Gln85His missense ACAD8 2 48524 4.12167E-5 24262 0 3.85101E-5
11-134132729-G-A p.Ala87Thr missense ACAD8 9 46704 1.92703E-4 23352 0 6.36983E-5
11-134132753-G-A p.Gly95Arg missense ACAD8 2 42616 4.69307E-5 21308 0 NA
11-134132754-G-A p.Gly95Glu missense ACAD8 88 42428 0.0020741 21214 0 0.003125
11-134132754-G-C p.Gly95Ala missense ACAD8 1 42434 2.3566E-5 21217 0 NA
11-134132761-G-A p.Leu97Leu synonymous ACAD8 1 40938 2.44272E-5 20469 0 NA
11-134132763-G-A p.Arg98Gln missense ACAD8 3 40532 7.40156E-5 20266 0 1.59205E-4
11-134132768-G-A p.Gly100Arg missense ACAD8 6 39836 1.50618E-4 19918 0 2.86533E-4
11-134132851-CAG-C c.*1073_*5771delAG splice_region ACAD8 1 34896 2.86566E-5 17448 0 1.2734E-4
11-134133450-G-A n.2372+1G>A splice_donor ACAD8 2 24410 8.19336E-5 12205 0 NA
11-134133451-T-TAGCAA n.2372+2_2372+3insAGCAA splice_region ACAD8 1 24412 4.09635E-5 12206 0 NA
11-134133451-T-G n.2372+2T>G splice_donor ACAD8 3 24414 1.2288E-4 12207 0 NA
11-134133454-GA-G n.2372+6delA splice_region ACAD8 2 24406 8.19471E-5 12203 0 NA
11-134133457-C-T n.2372+8C>T splice_region ACAD8 2 24404 8.19538E-5 12202 0 4.77616E-4
11-134134805-G-A p.Ser400Asn missense ACAD8 1 83080 1.20366E-5 41540 0 NA
11-134134806-C-T p.Ser400Ser synonymous ACAD8 1 83094 1.20346E-5 41547 0 3.97817E-5
11-134134808-A-G p.Asn401Ser missense ACAD8 1 83110 1.20322E-5 41555 0 NA
11-134134809-T-C p.Asn401Asn synonymous ACAD8 2 83122 2.4061E-5 41561 0 8.23642E-6
11-134134821-G-A p.Arg405Arg synonymous ACAD8 2 83226 2.4031E-5 41613 0 3.9769E-6
11-134134830-C-T p.Ile408Ile synonymous ACAD8 1 83234 1.20143E-5 41617 0 8.23642E-6
11-134134839-C-T p.Ser411Ser synonymous ACAD8 10 83230 1.20149E-4 41615 0 1.03395E-4