Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-128598470-G-A c.-65G>A 5_prime_UTR_premature_start_codon_gain ACAD9 6 69326 8.65476E-5 34663 0 1.31658E-4
3-128598504-C-T c.-31C>T 5_prime_UTR_premature_start_codon_gain ACAD9 2 82458 2.42548E-5 41229 0 3.18512E-5
3-128598535-A-T p.Met1? initiator_codon ACAD9 1 82486 1.21233E-5 41243 0 2.53169E-5
3-128598535-A-G p.Met1? start_lost ACAD9 1 82486 1.21233E-5 41243 0 NA
3-128598535-A-C p.Met1? initiator_codon ACAD9 1 82486 1.21233E-5 41243 0 NA
3-128598546-C-T p.Cys4Cys synonymous ACAD9 3 82146 3.65203E-5 41073 0 3.18492E-5
3-128598549-G-T p.Gly5Gly synonymous ACAD9 6 82126 7.30585E-5 41063 0 9.55353E-5
3-128598550-C-G p.Leu6Val missense ACAD9 1 82116 1.21779E-5 41058 0 NA
3-128598557-T-A p.Leu8Gln missense ACAD9 1 81996 1.21957E-5 40998 0 8.44609E-6
3-128598564-C-T p.Thr10Thr synonymous ACAD9 33 81928 4.02793E-4 40964 1 1.43783E-4
3-128598565-A-G p.Thr11Ala missense ACAD9 1 81852 1.22172E-5 40926 0 8.46984E-6
3-128598573-G-C p.Ala13Ala synonymous ACAD9 1 81752 1.22321E-5 40876 0 NA
3-128598577-C-T p.Arg15Cys missense ACAD9 1 81492 1.22711E-5 40746 0 2.44471E-5
3-128598581-C-G p.Ala16Gly missense ACAD9 1 81004 1.23451E-5 40502 0 NA
3-128598586-C-T p.Arg18Trp missense ACAD9 1 81150 1.23229E-5 40575 0 NA
3-128598588-G-A p.Arg18Arg synonymous ACAD9 1 81590 1.22564E-5 40795 0 4.05531E-6
3-128598590-G-T p.Gly19Val missense ACAD9 2 81644 2.44966E-5 40822 0 3.18593E-5
3-128598592-C-G p.Leu20Val missense ACAD9 1 81562 1.22606E-5 40781 0 NA
3-128598607-G-A p.Ala25Thr missense ACAD9 1 81566 1.226E-5 40783 0 2.02487E-5
3-128598609-G-T p.Ala25Ala synonymous ACAD9 4 81612 4.90124E-5 40806 0 3.64266E-5
3-128598613-C-T p.Arg27Trp missense ACAD9 1 81684 1.22423E-5 40842 0 NA
3-128598618-G-T p.Arg28Arg synonymous ACAD9 1 81832 1.22202E-5 40916 0 NA
3-128598620-T-C p.Leu29Pro missense ACAD9 1 81918 1.22073E-5 40959 0 1.21211E-5
3-128598625-C-T p.Arg31Cys missense ACAD9 8 81762 9.7845E-5 40881 0 5.66655E-5
3-128598634-C-T p.Pro34Ser missense ACAD9 4 82724 4.83536E-5 41362 0 3.18532E-5
3-128598636-G-T p.Pro34Pro synonymous ACAD9 3 82738 3.6259E-5 41369 0 5.23253E-5
3-128598646-G-C p.Ala38Pro missense ACAD9 1 82854 1.20694E-5 41427 0 NA
3-128598654-C-T p.Ala40Ala synonymous ACAD9 2 82864 2.41359E-5 41432 1 NA
3-128598692-G-A p.Arg53Gln missense ACAD9 2 82522 2.4236E-5 41261 0 9.55718E-5
3-128598692-G-C p.Arg53Pro missense ACAD9 1 82522 1.2118E-5 41261 0 NA
3-128598725-G-A p.Arg64His missense ACAD9 1 81418 1.22823E-5 40709 0 4.05581E-6
3-128598726-C-A p.Arg64Arg synonymous ACAD9 1 81420 1.2282E-5 40710 0 1.82749E-5
3-128598733-C-G p.Pro67Ala missense ACAD9 2 81072 2.46694E-5 40536 0 NA
3-128598734-C-T p.Pro67Leu missense ACAD9 37 81038 4.56576E-4 40519 0 0.00140181
3-128598744-A-C p.Ala70Ala synonymous ACAD9 1 80466 1.24276E-5 40233 0 1.08122E-5
3-128598748-C-T p.Leu72Leu synonymous ACAD9 1 80296 1.24539E-5 40148 0 4.12868E-6
3-128598752-T-C p.Val73Ala missense ACAD9 2 79972 2.50088E-5 39986 0 NA
3-128598765-G-A p.Val77Val synonymous ACAD9 1 78760 1.26968E-5 39380 0 4.33197E-6
3-128598768-A-G p.Arg78Arg synonymous ACAD9 1 78452 1.27466E-5 39226 0 4.37936E-6
3-128598771-C-T p.Phe79Phe synonymous ACAD9 756 78168 0.00967148 39084 0 0.0112105
3-128598776-A-G p.Lys81Arg missense ACAD9 2 77686 2.57447E-5 38843 0 3.45197E-5
3-128598785-G-A p.Arg84Lys missense ACAD9 1 76992 1.29884E-5 38496 0 1.99936E-5
3-128598789-G-GATAC p.Pro88fs frameshift ACAD9 2 76710 2.60722E-5 38355 0 1.11081E-4
3-128598792-A-T p.Ile86Ile synonymous ACAD9 2 76330 2.6202E-5 38165 0 NA
3-128598793-C-A p.His87Asn missense ACAD9 7 76286 9.176E-5 38143 1 5.00125E-5
3-128598804-C-A p.Ala90Ala synonymous ACAD9 2 74800 2.6738E-5 37400 0 NA
3-128598809-C-A p.Ala92Glu missense ACAD9 6 73878 8.1215E-5 36939 0 2.57312E-4
3-128598812-G-A p.Cys93Tyr missense ACAD9 1 73256 1.36508E-5 36628 0 NA
3-128598866-A-G c.*44+6A>G splice_region ACAD9 1 68650 1.45666E-5 34325 0 NA
3-128598953-A-C n.515A>C splice_region ACAD9 1 52878 1.89115E-5 26439 0 NA
3-128598953-A-G n.515A>G splice_region ACAD9 1 52878 1.89115E-5 26439 0 NA
3-128603489-T-C c.151-7T>C splice_region ACAD9 4 81982 4.87912E-5 40991 0 4.01139E-6
3-128603493-TAG-T c.151-2_151-1delAG splice_acceptor ACAD9 5 82262 6.07814E-5 41131 0 1.71901E-5
3-128603497-A-T p.Lys51Ile missense+splice_region ACAD9 42 82470 5.09276E-4 41235 0 2.23952E-4
3-128603504-T-G p.Phe52Cys missense ACAD9 1 82698 1.20922E-5 41349 0 NA
3-128603508-C-T p.Pro55Ser missense ACAD9 1 82786 1.20793E-5 41393 0 NA
3-128603510-A-G p.His54Arg missense ACAD9 1 82850 1.207E-5 41425 0 2.48859E-5
3-128603515-C-T p.Gln56* stop_gained ACAD9 2 82964 2.41068E-5 41482 0 3.98839E-6
3-128603540-T-C p.Met58Thr missense ACAD9 60 83136 7.21709E-4 41568 0 6.03037E-4
3-128603541-G-A p.Glu66Lys missense ACAD9 1 83140 1.20279E-5 41570 0 7.95792E-6
3-128603550-C-T p.Gln69* stop_gained ACAD9 1 83144 1.20273E-5 41572 0 1.19356E-5
3-128603551-A-G p.Gln69Arg missense ACAD9 7 83142 8.41933E-5 41571 0 5.03525E-4
3-128603563-C-T p.Pro73Leu missense ACAD9 2 83126 2.40599E-5 41563 0 NA
3-128603564-C-T p.Pro66Leu missense ACAD9 1 83114 1.20317E-5 41557 0 3.18573E-5
3-128603565-G-A p.Val74Met missense ACAD9 1 83116 1.20314E-5 41558 0 3.58012E-5
3-128603574-T-C p.Phe77Leu missense ACAD9 3 83102 3.61002E-5 41551 0 NA
3-128603576-C-A p.Phe77Leu missense ACAD9 2 83112 2.40639E-5 41556 0 3.18695E-5
3-128603588-G-A p.Arg74Lys missense+splice_region ACAD9 9 83016 1.08413E-4 41508 0 3.18471E-5
3-128603589-G-GTGGACTCCCGAAAAATTGACCAGGAAGGGAAAATCCCAGATGAAACTTT c.244_244+1insTGGACTCCCGAAAAATTGACCAGGAAGGGAAAATCCCAGATGAAACTTT splice_donor ACAD9 2 82984 2.4101E-5 41492 1 NA
3-128612361-G-A c.245-1G>A splice_acceptor ACAD9 4 82598 4.84273E-5 41299 0 3.18593E-5
3-128612367-A-G p.Ile84Val missense ACAD9 6 82786 7.2476E-5 41393 0 6.36983E-5
3-128612378-C-T c.*139-4C>T splice_region ACAD9 5 83046 6.02076E-5 41523 0 9.5584E-5
3-128612382-A-T p.Ile89Phe missense ACAD9 3 83106 3.60985E-5 41553 0 3.18532E-5
3-128612387-C-T p.Phe90Phe synonymous ACAD9 1 83156 1.20256E-5 41578 0 3.99131E-6
3-128612408-A-C p.Glu54Ala missense ACAD9 1 83276 1.20083E-5 41638 0 3.18471E-5
3-128612414-T-C p.Leu56Ser missense ACAD9 1 83292 1.2006E-5 41646 0 NA
3-128612423-A-G p.Lys59Arg missense ACAD9 1 83312 1.20031E-5 41656 0 NA
3-128612435-A-G p.Gln63Arg missense ACAD9 1 83330 1.20005E-5 41665 0 NA
3-128612459-G-A p.Lys102Lys synonymous ACAD9 1 83314 1.20028E-5 41657 0 3.18471E-5
3-128612497-A-G p.Tyr115Cys missense+splice_region ACAD9 4 83212 4.807E-5 41606 0 NA
3-128612500-G-A c.346+1G>A splice_donor ACAD9 1 83204 1.20187E-5 41602 0 3.18512E-5
3-128612501-T-TGGCCTGGGCTTCTCC c.346+2_346+3insGGCCTGGGCTTCTCC splice_region ACAD9 2 83210 2.40356E-5 41605 1 NA
3-128612507-A-G c.346+8A>G splice_region ACAD9 1 83152 1.20262E-5 41576 0 NA
3-128614163-CT-C p.Phe120fs frameshift ACAD9 5 82570 6.05547E-5 41285 0 5.04541E-4
3-128614177-T-C p.Met124Thr missense ACAD9 8 82714 9.67188E-5 41357 0 5.56948E-5
3-128614180-A-G p.Tyr125Cys missense ACAD9 1 82704 1.20913E-5 41352 0 NA
3-128614183-CAA-TAC p.SerArg126LeuArg missense ACAD9 1 82738 1.20863E-5 41369 0 NA
3-128614185-A-C p.Arg127Arg synonymous ACAD9 31636 81948 0.38605 40974 6915 0.438385
3-128614194-G-C p.Glu130Gln missense ACAD9 1 82686 1.20939E-5 41343 0 NA
3-128614208-G-A p.Met134Ile missense ACAD9 1 82642 1.21004E-5 41321 0 3.19183E-5
3-128614228-C-T p.Thr141Ile missense ACAD9 9 82472 1.09128E-4 41236 0 7.3346E-5
3-128614237-C-T p.Ala144Val missense ACAD9 1 82388 1.21377E-5 41194 0 5.63418E-5
3-128614238-G-A p.Ala144Ala synonymous ACAD9 18 82366 2.18537E-4 41183 0 0.00151976
3-128614238-G-T p.Ala144Ala synonymous ACAD9 2 82366 2.42819E-5 41183 0 NA
3-128614248-A-G p.Ile148Val missense ACAD9 15 82284 1.82295E-4 41142 0 1.91681E-4
3-128614258-A-G p.Lys151Arg missense+splice_region ACAD9 1 82042 1.21889E-5 41021 0 3.19305E-5
3-128614261-T-A c.453+2T>A splice_donor ACAD9 1 81916 1.22076E-5 40958 0 4.36861E-6
3-128614264-G-A c.453+5G>A splice_region ACAD9 1 81880 1.2213E-5 40940 0 NA
3-128614267-A-G c.453+8A>G splice_region ACAD9 49 81774 5.99212E-4 40887 0 0.00182027
3-128615271-T-G c.454-8T>G splice_region ACAD9 3 83276 3.60248E-5 41638 0 7.95748E-6
3-128615291-G-T p.Ala156Ser missense ACAD9 1 83312 1.20031E-5 41656 0 3.9776E-6
3-128615302-G-C p.Glu159Asp missense ACAD9 1 83326 1.20011E-5 41663 0 NA
3-128615304-A-C p.Glu160Ala missense ACAD9 9 83322 1.08015E-4 41661 0 4.45945E-4
3-128615307-A-G p.Gln173Arg missense+splice_region ACAD9 1 83324 1.20013E-5 41662 0 NA
3-128615327-A-G p.Lys168Glu missense ACAD9 1 83318 1.20022E-5 41659 0 NA
3-128615334-C-T p.Ala170Val missense ACAD9 4 83314 4.80111E-5 41657 0 8.27048E-6
3-128615335-G-A p.Ala170Ala synonymous ACAD9 8 83308 9.60292E-5 41654 1 5.04032E-4
3-128615338-C-T p.Ser171Ser synonymous ACAD9 17 83306 2.04067E-4 41653 0 0.00100806
3-128615339-G-A p.Gly172Arg missense ACAD9 2 83302 2.4009E-5 41651 0 9.55657E-5
3-128615349-T-C p.Ile175Thr missense ACAD9 1 83300 1.20048E-5 41650 0 3.97747E-6
3-128615363-C-T p.Leu180Phe missense ACAD9 6 83230 7.20894E-5 41615 0 4.77452E-5
3-128615373-C-T p.Pro183Leu missense ACAD9 2 83190 2.40414E-5 41595 0 NA
3-128615374-A-G p.Pro183Pro synonymous ACAD9 1 83180 1.20221E-5 41590 0 NA
3-128616475-T-G p.Ser185Arg missense+splice_region ACAD9 8 83184 9.61723E-5 41592 0 9.20066E-5
3-128616479-A-C p.Ser187Arg missense ACAD9 2 83188 2.40419E-5 41594 0 3.99636E-6
3-128616481-C-T p.Ser187Ser synonymous ACAD9 4 83192 4.80815E-5 41596 0 6.55087E-5
3-128616485-G-T p.Ala189Ser missense ACAD9 2 83222 2.40321E-5 41611 0 9.19168E-6
3-128616489-C-T p.Ala190Val missense ACAD9 1 83240 1.20135E-5 41620 0 9.1015E-6
3-128616493-A-G p.Ser191Ser synonymous ACAD9 1 83248 1.20123E-5 41624 0 NA
3-128616497-C-T p.Arg193Trp missense ACAD9 4 83258 4.80434E-5 41629 0 5.03525E-4
3-128616498-G-A p.Arg193Gln missense ACAD9 4 83252 4.80469E-5 41626 0 6.37389E-5
3-128616511-A-G p.Thr197Thr synonymous ACAD9 1 83288 1.20065E-5 41644 0 NA
3-128616516-G-C p.Ser199Thr missense ACAD9 2 83284 2.40142E-5 41642 0 NA
3-128616530-C-T p.His204Tyr missense ACAD9 2 83278 2.40159E-5 41639 0 7.97455E-6
3-128616534-A-G p.Tyr205Cys missense ACAD9 1 83270 1.20091E-5 41635 0 NA
3-128616543-A-G p.Asn208Ser missense ACAD9 9 83224 1.08142E-4 41612 0 3.59617E-5
3-128616552-A-C p.Lys211Thr missense+splice_region ACAD9 1 83130 1.20294E-5 41565 0 NA
3-128616555-T-TCTGGATTACTAATGG c.633+2_633+3insCTGGATTACTAATGG splice_region ACAD9 2 83098 2.4068E-5 41549 0 NA
3-128616555-T-TCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGC c.633+2_633+3insCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGC splice_region ACAD9 2 83098 2.4068E-5 41549 1 NA
3-128616555-T-TCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAA c.633+2_633+3insCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAA splice_region ACAD9 2 83098 2.4068E-5 41549 1 NA
3-128617267-G-A n.59-7G>A splice_region ACAD9 1 50482 1.9809E-5 25241 0 7.65767E-6
3-128618125-C-T c.634-5C>T splice_region ACAD9 3 83316 3.60075E-5 41658 0 1.64829E-5
3-128618127-C-T c.634-3C>T splice_region ACAD9 3 83324 3.6004E-5 41662 0 6.36862E-5
3-128618146-G-A p.Gly217Glu missense ACAD9 1 83364 1.19956E-5 41682 0 3.977E-6
3-128618152-T-G p.Leu219Arg missense ACAD9 3 83368 3.5985E-5 41684 0 1.64764E-5
3-128618158-A-G p.Asn221Ser missense ACAD9 2 83366 2.39906E-5 41683 0 4.11902E-5
3-128618170-T-C p.Val225Ala missense ACAD9 1 83366 1.19953E-5 41683 0 1.64758E-5
3-128618171-G-A p.Val225Val synonymous ACAD9 2 83374 2.39883E-5 41687 0 6.36862E-5
3-128618189-C-T p.Val231Val synonymous ACAD9 3 83370 3.59842E-5 41685 0 6.3674E-5
3-128618190-G-A p.Val232Ile missense ACAD9 5 83370 5.99736E-5 41685 0 9.06096E-5
3-128618216-C-G p.Asp240Glu missense ACAD9 1 83382 1.1993E-5 41691 0 NA
3-128618233-T-C p.Ile246Thr missense ACAD9 1 83394 1.19913E-5 41697 0 NA
3-128618236-T-C p.Val247Ala missense ACAD9 2 83392 2.39831E-5 41696 0 1.19296E-5
3-128618244-G-A p.Asp250Asn missense ACAD9 1 83394 1.19913E-5 41697 0 NA
3-128618250-G-A p.Gly252Ser missense ACAD9 1 83394 1.19913E-5 41697 0 7.95336E-6
3-128618252-T-C p.Gly252Gly synonymous ACAD9 1 83398 1.19907E-5 41699 0 NA
3-128618273-C-T p.Pro259Pro synonymous ACAD9 3 83400 3.59712E-5 41700 0 3.977E-5
3-128618274-G-A p.Glu260Lys missense ACAD9 3 83402 3.59704E-5 41701 0 4.94511E-5
3-128618281-A-T p.Lys262Ile missense ACAD9 1 83390 1.19918E-5 41695 0 NA
3-128618283-T-C p.Leu263Leu synonymous ACAD9 1500 83360 0.0179942 41680 24 0.0294957
3-128618283-TT-CG p.Leu263Arg missense ACAD9 1 83384 1.19927E-5 41692 0 NA
3-128618284-T-G p.Leu263* stop_gained ACAD9 1 83378 1.19936E-5 41689 0 NA
3-128618292-C-T p.Arg266Trp missense ACAD9 1 83368 1.1995E-5 41684 0 1.65055E-5
3-128618298-T-C p.Ser268Pro missense ACAD9 1 83354 1.1997E-5 41677 0 NA
3-128618303-C-T p.Asn269Asn splice_region+synonymous ACAD9 11 83348 1.31977E-4 41674 0 9.55901E-5
3-128618304-A-ACTT c.808_808+1insCTT splice_donor ACAD9 1 83344 1.19985E-5 41672 0 NA
3-128618306-T-TAAGTAGCTCC c.808+2_808+3insAAGTAGCTCC splice_region ACAD9 1 83324 1.20013E-5 41662 0 NA
3-128620112-G-A c.809-7G>A splice_region ACAD9 1 83326 1.20011E-5 41663 0 6.25E-4
3-128620120-T-C p.Thr270Thr splice_region+synonymous ACAD9 1 83352 1.19973E-5 41676 0 NA
3-128620121-T-G p.Cys271Gly missense+splice_region ACAD9 1 83358 1.19964E-5 41679 0 NA
3-128620131-A-G p.His274Arg missense ACAD9 1 83390 1.19918E-5 41695 0 3.97646E-6
3-128620147-G-C p.Lys279Asn missense ACAD9 3 83404 3.59695E-5 41702 0 NA
3-128620164-T-A p.Ile285Asn missense ACAD9 2 83408 2.39785E-5 41704 0 3.97633E-6
3-128620177-C-T p.Val289Val synonymous ACAD9 1 83406 1.19895E-5 41703 0 3.18532E-5
3-128620178-G-A p.Gly290Arg missense ACAD9 1 83406 1.19895E-5 41703 0 6.25E-4
3-128620186-G-T p.Gly292Gly synonymous ACAD9 2 83404 2.39797E-5 41702 0 8.23696E-6
3-128620195-G-GGCC c.882+3_882+4insGCC splice_region ACAD9 1 83392 1.19916E-5 41696 0 NA
3-128620198-T-C c.882+6T>C splice_region ACAD9 1 83374 1.19941E-5 41687 0 NA
3-128621393-C-T c.883-3C>T splice_region ACAD9 1 82634 1.21016E-5 41317 0 3.9781E-6
3-128621396-G-A p.Val295Met missense+splice_region ACAD9 1 82674 1.20957E-5 41337 0 1.65044E-5
3-128621404-G-A p.Met297Ile missense ACAD9 1 82768 1.2082E-5 41384 0 NA
3-128621412-T-G p.Leu300Arg missense ACAD9 3 82812 3.62266E-5 41406 0 1.65019E-5
3-128621414-A-C p.Asn301His missense ACAD9 1 82792 1.20785E-5 41396 0 NA
3-128621415-A-G p.Asn301Ser missense ACAD9 13 82812 1.56982E-4 41406 0 7.42611E-5
3-128621419-C-T p.Ser302Ser synonymous ACAD9 2 82844 2.41418E-5 41422 0 4.95066E-5
3-128621420-G-A p.Gly303Ser missense ACAD9 10 82846 1.20706E-4 41423 0 6.60077E-5
3-128621420-G-T p.Gly303Cys missense ACAD9 1 82846 1.20706E-5 41423 0 NA
3-128621424-G-A p.Arg304Gln missense ACAD9 2 82888 2.41289E-5 41444 0 7.15916E-5
3-128621425-G-A p.Arg304Arg synonymous ACAD9 1 82886 1.20648E-5 41443 0 3.18573E-5
3-128621432-A-G p.Met307Val missense ACAD9 2 82866 2.41354E-5 41433 0 3.97763E-5
3-128621440-C-T p.Ser309Ser synonymous ACAD9 5 82846 6.03529E-5 41423 0 6.37146E-5
3-128621441-G-A p.Val310Ile missense ACAD9 60 82826 7.2441E-4 41413 0 0.00101963
3-128621443-C-T p.Val310Val synonymous ACAD9 3 82822 3.62223E-5 41411 0 5.03525E-4
3-128621444-G-A p.Val311Met missense ACAD9 2 82774 2.41622E-5 41387 0 9.1492E-5
3-128621446-G-T p.Val311Val synonymous ACAD9 4 82770 4.83267E-5 41385 0 6.37227E-5
3-128621456-C-T p.Leu315Phe missense ACAD9 2 82598 2.42137E-5 41299 0 NA
3-128622899-C-T c.959-6C>T splice_region ACAD9 1 83272 1.20088E-5 41636 0 9.55231E-5
3-128622900-C-T c.959-5C>T splice_region ACAD9 2 83280 2.40154E-5 41640 0 1.19313E-5
3-128622922-G-A p.Ala326Thr missense ACAD9 1696 83276 0.020366 41638 29 0.0266208
3-128622922-G-C p.Ala326Pro missense ACAD9 4 83328 4.80031E-5 41664 0 5.16997E-5
3-128622933-G-C p.Arg329Ser missense ACAD9 2 83340 2.39981E-5 41670 0 NA
3-128622934-A-C p.Lys330Gln missense ACAD9 73 83334 8.75993E-4 41667 0 0.00235612
3-128622936-A-G p.Lys330Lys synonymous ACAD9 1 83342 1.19988E-5 41671 0 7.95342E-6
3-128622959-A-C p.Glu338Ala missense ACAD9 4 83332 4.80008E-5 41666 0 3.18512E-5
3-128622966-A-G p.Gly340Gly synonymous ACAD9 3 83322 3.60049E-5 41661 0 2.2293E-4
3-128622968-T-C p.Leu341Ser missense ACAD9 14 83316 1.68035E-4 41658 0 4.77616E-4
3-128622969-G-A p.Leu341Leu synonymous ACAD9 1 83316 1.20025E-5 41658 0 1.64747E-5
3-128622972-T-C p.Ile342Ile synonymous ACAD9 1 83314 1.20028E-5 41657 0 NA
3-128623234-A-G p.Lys345Lys synonymous ACAD9 3 83274 3.60256E-5 41637 0 1.98842E-5
3-128623243-G-A p.Leu348Leu synonymous ACAD9 2 83270 2.40183E-5 41635 0 3.97678E-6
3-128623255-G-C p.Lys352Asn missense ACAD9 2 83278 2.40159E-5 41639 0 1.98842E-5
3-128623262-G-A p.Val355Ile missense ACAD9 2 83256 2.40223E-5 41628 0 3.9769E-6
3-128623278-C-G p.Thr360Ser missense ACAD9 1 83230 1.20149E-5 41615 0 3.1841E-5
3-128623283-C-T p.Leu362Phe missense ACAD9 1 83232 1.20146E-5 41616 0 3.97693E-6
3-128623296-T-C p.Met366Thr missense ACAD9 2 83252 2.40234E-5 41626 0 3.97728E-6
3-128623323-G-C p.Cys375Ser missense ACAD9 1 83202 1.20189E-5 41601 0 3.97969E-6
3-128623323-G-T p.Cys375Phe missense ACAD9 1 83202 1.20189E-5 41601 0 NA
3-128623330-C-G p.Ile377Met missense ACAD9 1 83186 1.20213E-5 41593 0 3.18471E-5
3-128623352-A-G c.1149+4A>G splice_region ACAD9 1 83036 1.2043E-5 41518 0 NA
3-128623353-C-A c.1149+5C>A splice_region ACAD9 10 83036 1.2043E-4 41518 0 2.54696E-4
3-128624956-C-T c.1150-8C>T splice_region ACAD9 1 82760 1.20831E-5 41380 0 NA
3-128624970-A-G p.Ser386Gly missense ACAD9 1 82946 1.2056E-5 41473 0 1.19412E-5
3-128624975-C-T p.Ser387Ser synonymous ACAD9 1 82986 1.20502E-5 41493 0 4.77601E-5
3-128624978-G-A p.Glu388Glu synonymous ACAD9 1 83030 1.20438E-5 41515 0 6.25E-4
3-128624981-C-T p.Ala389Ala synonymous ACAD9 2 83038 2.40854E-5 41519 0 3.18573E-5
3-128624982-G-A p.Ala390Thr missense ACAD9 3 83044 3.61254E-5 41522 0 6.37064E-5
3-128625004-C-T p.Ala397Val missense ACAD9 1 83214 1.20172E-5 41607 0 3.29815E-5
3-128625006-C-G p.Leu398Val missense ACAD9 1 83220 1.20163E-5 41610 0 3.97798E-6
3-128625017-C-T p.Leu401Leu synonymous ACAD9 1 83252 1.20117E-5 41626 0 4.94707E-5
3-128625035-A-G p.Thr407Thr synonymous ACAD9 25 83260 3.00264E-4 41630 0 0.00100705
3-128625036-A-G p.Arg408Gly missense ACAD9 1 83266 1.20097E-5 41633 0 3.18492E-5
3-128625038-G-A p.Arg408Arg synonymous ACAD9 2 83276 2.40165E-5 41638 0 3.18471E-5
3-128625046-C-T p.Pro411Leu missense ACAD9 1 83260 1.20106E-5 41630 0 6.36943E-5
3-128625049-A-T p.Tyr412Phe missense ACAD9 1 83246 1.20126E-5 41623 0 8.24674E-6
3-128625050-C-T p.Tyr412Tyr synonymous ACAD9 2 83256 2.40223E-5 41628 0 3.29891E-5
3-128625054-C-T p.Arg414Cys missense ACAD9 2 83232 2.40292E-5 41616 0 1.19337E-5
3-128625064-G-A p.Arg417His missense ACAD9 1 83226 1.20155E-5 41613 0 1.65E-5
3-128625072-C-T p.Arg420Cys missense ACAD9 9 83218 1.0815E-4 41609 0 6.25E-4
3-128625073-G-A p.Arg420His missense ACAD9 8 83208 9.61446E-5 41604 0 9.07815E-5
3-128625076-T-C p.Ile421Thr missense ACAD9 1 83198 1.20195E-5 41599 0 NA
3-128625081-C-T p.Leu423Phe missense ACAD9 1 83196 1.20198E-5 41598 0 1.65109E-5
3-128625086-C-G p.Ile424Met missense ACAD9 1 83162 1.20247E-5 41581 0 NA
3-128625089-C-T p.Phe425Phe synonymous ACAD9 6 83132 7.21744E-5 41566 0 6.37105E-5
3-128625098-T-C c.1278+6T>C splice_region ACAD9 10 83042 1.20421E-4 41521 0 1.15536E-4
3-128625098-T-G c.1278+6T>G splice_region ACAD9 5 83042 6.02105E-5 41521 0 NA
3-128627021-A-G c.1279-7A>G splice_region ACAD9 30786 82226 0.374407 41113 6361 0.422534
3-128627035-A-G p.Asn429Ser missense ACAD9 3 83254 3.60343E-5 41627 0 3.2962E-5
3-128627036-T-C p.Asn429Asn synonymous ACAD9 1 83264 1.201E-5 41632 0 NA
3-128627045-C-T p.Leu432Leu synonymous ACAD9 1 83270 1.20091E-5 41635 0 NA
3-128627046-C-T p.Arg433Trp missense ACAD9 1 83268 1.20094E-5 41634 0 2.47202E-5
3-128627047-G-A p.Arg433Gln missense ACAD9 2 83270 2.40183E-5 41635 0 2.47198E-5
3-128627050-T-A p.Met434Lys missense ACAD9 3 83266 3.60291E-5 41633 0 NA
3-128627054-C-A p.Tyr435* stop_gained ACAD9 1 83280 1.20077E-5 41640 0 NA
3-128627056-TC-AA p.Ile436Lys missense ACAD9 1 83264 1.201E-5 41632 0 NA
3-128627057-C-T p.Ile436Ile synonymous ACAD9 3 83272 3.60265E-5 41636 0 6.25E-4
3-128627058-G-A p.Ala437Thr missense ACAD9 1 83256 1.20111E-5 41628 0 0.00100705
3-128627061-C-G p.Leu438Val missense ACAD9 3 83268 3.60282E-5 41634 0 5.03525E-4
3-128627061-C-A p.Leu438Met missense ACAD9 1 83268 1.20094E-5 41634 0 8.23981E-6
3-128627063-G-C p.Leu438Leu synonymous ACAD9 2 83270 2.40183E-5 41635 0 NA
3-128627065-C-T p.Thr439Met missense ACAD9 5 83272 6.00442E-5 41636 0 5.03525E-4
3-128627080-C-T p.Ala444Val missense ACAD9 7 83260 8.4074E-5 41630 0 0.00151057
3-128627081-C-T p.Ala444Ala synonymous ACAD9 1 83248 1.20123E-5 41624 0 1.19324E-5
3-128627082-G-A p.Gly445Ser missense ACAD9 6 83252 7.20703E-5 41626 0 3.29603E-5
3-128627085-C-T p.Arg446Cys missense ACAD9 3 83252 3.60352E-5 41626 0 8.24049E-6
3-128627086-G-A p.Arg446His missense ACAD9 8 83252 9.60938E-5 41626 0 0.00100705
3-128627091-C-T p.Leu448Leu synonymous ACAD9 1 83244 1.20129E-5 41622 0 NA
3-128627100-A-C p.Arg451Arg synonymous ACAD9 1 83230 1.20149E-5 41615 0 NA
3-128627108-G-T c.1358+1G>T splice_donor ACAD9 1 83194 1.20201E-5 41597 0 NA
3-128627763-CAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAA-C p.His453_Lys459delinsGln splice_acceptor ACAD9 1 81418 1.22823E-5 40709 0 NA
3-128627811-T-TGCAGTGAGCTTAAACAGGCC c.1359-5_1359-4insGCAGTGAGCTTAAACAGGCC splice_region ACAD9 1 82988 1.20499E-5 41494 0 NA
3-128627813-C-T c.1359-3C>T splice_region ACAD9 1 82998 1.20485E-5 41499 0 NA
3-128627819-G-A p.Glu454Glu synonymous ACAD9 1 83054 1.20404E-5 41527 0 NA
3-128627830-C-T p.Ala458Val missense ACAD9 2 83062 2.40784E-5 41531 0 2.48287E-5
3-128627853-A-G p.Thr466Ala missense ACAD9 2 83100 2.40674E-5 41550 0 6.37064E-5
3-128627855-C-T p.Thr466Thr synonymous ACAD9 2 83088 2.40709E-5 41544 0 0.00100705
3-128627856-G-A p.Val467Ile missense ACAD9 3 83092 3.61046E-5 41546 0 6.25E-4
3-128627862-C-T p.Arg469Trp missense ACAD9 36 83058 4.33432E-4 41529 0 3.97902E-4
3-128627863-G-A p.Arg469Gln missense ACAD9 2 83074 2.40749E-5 41537 0 1.65599E-5
3-128627871-C-T p.Arg472Trp missense ACAD9 28 83030 3.37228E-4 41515 0 5.96967E-5
3-128627872-G-A p.Arg472Gln missense ACAD9 1 83018 1.20456E-5 41509 0 3.18492E-5
3-128627877-TC-T p.Leu475fs frameshift ACAD9 1 83032 1.20435E-5 41516 0 NA
3-128627878-C-T p.Ser474Phe missense ACAD9 1 83016 1.20459E-5 41508 0 6.25E-4
3-128627885-C-T p.Gly476Gly synonymous ACAD9 1 82976 1.20517E-5 41488 0 3.98004E-6
3-128627887-G-A p.Arg477Gln missense ACAD9 984 82936 0.0118646 41468 6 0.0147509
3-128627890-C-T p.Thr478Ile missense ACAD9 1 82982 1.20508E-5 41491 0 8.28542E-6
3-128627897-C-T p.Asp480Asp synonymous ACAD9 1 82962 1.20537E-5 41481 0 4.14422E-5
3-128627906-G-A p.Leu483Leu synonymous ACAD9 1 82844 1.20709E-5 41422 0 NA
3-128627917-A-G p.His487Arg missense ACAD9 1 82764 1.20825E-5 41382 0 3.98295E-6
3-128627932-CC-GT p.Pro492Arg missense ACAD9 2 82594 2.42148E-5 41297 0 NA
3-128627932-CC-TT p.Pro492Leu missense ACAD9 1 82594 1.21074E-5 41297 0 NA
3-128627933-C-T p.Pro492Pro synonymous ACAD9 19545 81908 0.238621 40954 2427 0.284375
3-128627933-C-G p.Pro492Pro synonymous ACAD9 1 82592 1.21077E-5 41296 0 NA
3-128627941-C-T p.Ala495Val missense+splice_region ACAD9 2 82352 2.4286E-5 41176 0 2.51737E-5
3-128627942-G-A p.Ala495Ala splice_region+synonymous ACAD9 5 82362 6.07076E-5 41181 0 5.03525E-4
3-128627943-G-GACAGTGCCAACAAGTT c.1485+1_1485+2insACAGTGCCAACAAGTT splice_donor ACAD9 2 82342 2.42889E-5 41171 0 NA
3-128627943-GTGAGTGGGCCTA-G c.1485+2_1485+13delTGAGTGGGCCTA splice_donor ACAD9 1 82344 1.21442E-5 41172 0 NA
3-128628179-G-A c.1486-8G>A splice_region ACAD9 1 83064 1.20389E-5 41532 0 3.97678E-6
3-128628183-A-G c.1486-4A>G splice_region ACAD9 5 83104 6.01656E-5 41552 0 1.19303E-5
3-128628184-T-C c.1486-3T>C splice_region ACAD9 1 83098 1.2034E-5 41549 0 8.24076E-6
3-128628197-A-G p.Asn499Ser missense ACAD9 1 83178 1.20224E-5 41589 0 3.18552E-5
3-128628216-C-T p.Thr505Thr synonymous ACAD9 2 83212 2.4035E-5 41606 0 1.59066E-5
3-128628218-A-G p.Tyr506Cys missense ACAD9 2 83220 2.40327E-5 41610 0 NA
3-128628223-T-C p.Phe508Leu missense ACAD9 1 83198 1.20195E-5 41599 0 NA
3-128628226-G-A p.Gly509Ser missense ACAD9 2 83196 2.40396E-5 41598 0 5.76872E-5
3-128628229-C-T p.Arg510Trp missense ACAD9 1 83194 1.20201E-5 41597 0 1.64829E-5
3-128628235-G-A p.Val512Met missense ACAD9 4 83186 4.8085E-5 41593 0 4.12106E-5
3-128628249-G-A p.Leu516Leu synonymous ACAD9 2 83174 2.4046E-5 41587 0 1.19337E-5
3-128628252-C-T p.Leu517Leu synonymous ACAD9 1 83166 1.20241E-5 41583 0 3.18492E-5
3-128628253-C-T p.Arg518Cys missense ACAD9 11 83152 1.32288E-4 41576 0 1.07183E-4
3-128628254-G-T p.Arg518Leu missense ACAD9 1 83130 1.20294E-5 41565 0 NA
3-128628865-C-CCAT p.Ile523dup disruptive_inframe_insertion ACAD9 2 82902 2.41249E-5 41451 0 8.93639E-6
3-128628894-C-T p.Arg532Trp missense ACAD9 1 82842 1.20712E-5 41421 0 8.68372E-6
3-128628896-G-C p.Arg532Arg synonymous ACAD9 8 82878 9.65274E-5 41439 1 3.4629E-5
3-128628906-A-T p.Ile536Phe missense ACAD9 2 82828 2.41464E-5 41414 0 3.18776E-5
3-128628912-A-C p.Ile538Leu missense ACAD9 2 82784 2.41593E-5 41392 0 3.19583E-5
3-128628931-C-T p.Thr544Met missense ACAD9 2 82522 2.4236E-5 41261 0 5.04032E-4
3-128628932-G-A p.Thr544Thr synonymous ACAD9 3 82478 3.63733E-5 41239 0 7.68285E-5
3-128628934-C-G p.Ala545Gly missense ACAD9 4 82422 4.85307E-5 41211 0 1.27397E-4
3-128628936-G-A p.Val546Met missense ACAD9 1 82380 1.21389E-5 41190 0 3.41816E-5
3-128628943-C-T p.Ser548Leu missense ACAD9 1 82254 1.21575E-5 41127 0 NA
3-128628944-G-T p.Ser548Ser synonymous ACAD9 1 82172 1.21696E-5 41086 0 6.37308E-5
3-128628946-G-A p.Arg549Gln missense ACAD9 1 82372 1.214E-5 41186 0 8.54321E-6
3-128628950-C-G p.Ala550Ala synonymous ACAD9 14 82462 1.69775E-4 41231 0 7.99885E-5
3-128628951-A-C p.Ser551Arg missense ACAD9 1 82458 1.21274E-5 41229 0 NA
3-128628960-A-G p.Ile554Val missense ACAD9 1 82500 1.21212E-5 41250 0 8.44309E-6
3-128628963-C-T p.Arg555Cys missense ACAD9 5 82528 6.05855E-5 41264 0 1.99601E-5
3-128628964-G-A p.Arg555His missense ACAD9 8 82490 9.69815E-5 41245 0 1.9167E-4
3-128628966-A-G p.Ile556Val missense ACAD9 6 82506 7.2722E-5 41253 0 1.91119E-4
3-128628967-T-C p.Ile556Thr missense ACAD9 7 82518 8.483E-5 41259 0 9.55718E-5
3-128628968-T-A p.Ile556Ile synonymous ACAD9 1 82530 1.21168E-5 41265 0 1.27397E-4
3-128628970-G-A p.Gly557Glu missense ACAD9 2 82538 2.42313E-5 41269 0 NA
3-128628971-G-A p.Gly557Gly synonymous ACAD9 1 82478 1.21244E-5 41239 0 2.39454E-5
3-128628975-C-T p.Arg559Cys missense ACAD9 1 82450 1.21286E-5 41225 0 3.18512E-5
3-128628975-C-A p.Arg559Ser missense ACAD9 26 82448 3.1535E-4 41224 0 7.02387E-4
3-128628976-G-A p.Arg559His missense ACAD9 1 82422 1.21327E-5 41211 0 6.36983E-5
3-128628978-A-C p.Asn560His missense ACAD9 1 82400 1.21359E-5 41200 0 3.18532E-5
3-128628978-A-AACCACG p.Asp562_His563dup disruptive_inframe_insertion ACAD9 1 82400 1.21359E-5 41200 0 3.99033E-6
3-128628983-C-T p.His561His synonymous ACAD9 196 82332 0.00238061 41166 1 0.00452229
3-128628984-G-A p.Asp562Asn missense ACAD9 3 82296 3.64538E-5 41148 0 6.36862E-5
3-128628989-C-T p.His563His synonymous ACAD9 5 82218 6.08139E-5 41109 0 2.22887E-4
3-128628990-G-A p.Glu564Lys missense+splice_region ACAD9 1 82184 1.21678E-5 41092 0 8.42673E-6
3-128628993-G-GTTCTCT c.1692+2_1692+3insTCTCTT splice_region ACAD9 1 82144 1.21737E-5 41072 0 NA
3-128629000-C-G c.1692+8C>G splice_region ACAD9 6 81998 7.31725E-5 40999 0 1.5979E-5
3-128629596-A-G p.Asn569Asp missense ACAD9 1 83178 1.20224E-5 41589 0 NA
3-128629597-A-G p.Asn569Ser missense ACAD9 2 83176 2.40454E-5 41588 0 2.78341E-5
3-128629601-C-A p.Thr570Thr synonymous ACAD9 2 83204 2.40373E-5 41602 0 8.23642E-6
3-128629607-C-T p.Cys572Cys synonymous ACAD9 30 83206 3.60551E-4 41603 0 6.25E-4
3-128629608-G-A p.Val573Met missense ACAD9 15 83208 1.80271E-4 41604 1 6.25E-4
3-128629629-C-G p.Leu580Val missense ACAD9 3 83218 3.60499E-5 41609 0 7.95279E-6
3-128629631-C-G p.Leu580Leu synonymous ACAD9 1 83214 1.20172E-5 41607 0 NA
3-128629637-C-A p.Ser582Arg missense ACAD9 4 83202 4.80758E-5 41601 0 3.1839E-5
3-128629637-CCT-C p.Gln585fs frameshift ACAD9 3 83202 3.60568E-5 41601 0 NA
3-128629644-C-G p.Gln585Glu missense ACAD9 2 83168 2.40477E-5 41584 0 1.5906E-5
3-128629663-G-A c.1765+7G>A splice_region ACAD9 1 83004 1.20476E-5 41502 0 8.23696E-6
3-128629664-G-A c.1765+8G>A splice_region ACAD9 1 82984 1.20505E-5 41492 0 NA
3-128631361-A-G p.Asn593Asp missense ACAD9 1 83234 1.20143E-5 41617 0 NA
3-128631378-TAAGA-T p.Lys600fs frameshift ACAD9 9 83292 1.08054E-4 41646 0 3.18796E-5
3-128631390-C-T p.Ser602Ser synonymous ACAD9 2 83316 2.4005E-5 41658 0 3.18573E-5
3-128631399-C-T p.Ile605Ile synonymous ACAD9 1 83314 1.20028E-5 41657 0 8.24375E-6
3-128631399-C-G p.Ile605Met missense ACAD9 1 83314 1.20028E-5 41657 0 NA
3-128631401-T-TATGAGCAGGATGAGTCCTTTGTAAC p.Glu607fs frameshift ACAD9 1 83310 1.20034E-5 41655 0 NA
3-128631408-G-T p.Lys608Asn missense ACAD9 2 83310 2.40067E-5 41655 0 NA
3-128631410-G-A p.Arg609Gln missense ACAD9 6 83324 7.20081E-5 41662 0 6.25E-4
3-128631413-C-A p.Ala610Asp missense ACAD9 1 83326 1.20011E-5 41663 0 8.24022E-6
3-128631416-A-G p.Tyr611Cys missense ACAD9 2 83320 2.40038E-5 41660 0 7.95273E-6
3-128631418-A-G p.Ile612Val missense ACAD9 1 83310 1.20034E-5 41655 0 8.24022E-6
3-128631422-G-A p.Cys613Tyr missense ACAD9 3 83318 3.60066E-5 41659 0 1.19293E-5
3-128631433-C-G p.Leu617Val missense ACAD9 2 83312 2.40061E-5 41656 0 3.97649E-6
3-128631435-G-A p.Leu617Leu synonymous ACAD9 1 83302 1.20045E-5 41651 0 NA
3-128631441-G-A p.Arg619Arg synonymous ACAD9 1 83296 1.20054E-5 41648 0 1.07162E-4
3-128631445-T-C p.Cys621Arg missense ACAD9 2 83280 2.40154E-5 41640 0 NA
3-128631446-G-A p.Cys621Tyr missense ACAD9 1 83280 1.20077E-5 41640 0 NA
3-128631639-C-T c.*99-7C>T splice_region ACAD9 4 67020 5.96837E-5 33510 0 6.36821E-5
3-128631644-A-G c.*99-2A>G splice_acceptor ACAD9 2 66390 3.0125E-5 33195 0 0.00200599
3-128631780-G-T c.*232+1G>T splice_donor ACAD9 1 54160 1.84638E-5 27080 0 5.58254E-6
3-128631781-T-G c.*232+2T>G splice_donor ACAD9 295 54086 0.00545428 27043 2 0.00873502
3-128631942-A-T n.1938A>T splice_region ACAD9 1 50526 1.97918E-5 25263 0 NA
3-128631943-A-G n.1939A>G splice_region ACAD9 1 50460 1.98177E-5 25230 0 1.49292E-5
3-128634379-G-A c.*571+1G>A splice_donor ACAD9 1 77404 1.29192E-5 38702 0 NA
3-128634386-C-T c.*571+8C>T splice_region ACAD9 18 77334 2.32757E-4 38667 0 9.55292E-5
3-128634760-C-T c.*572-5C>T splice_region ACAD9 1 42450 2.35571E-5 21225 0 NA
3-128634763-A-T c.*572-2A>T splice_acceptor ACAD9 1 43788 2.28373E-5 21894 0 NA
3-128634765-G-C c.*572G>C splice_region ACAD9 1 44556 2.24437E-5 22278 0 NA