Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-41865136-T-G c.-15T>G 5_prime_UTR_premature_start_codon_gain ACO2 3 83038 3.6128E-5 41519 0 8.34794E-6
22-41865155-C-T p.Ala2Val missense ACO2 2 83042 2.40842E-5 41521 0 8.12592E-6
22-41865158-C-A p.Pro3His missense ACO2 1 83094 1.20346E-5 41547 0 NA
22-41865159-C-G p.Pro3Pro synonymous ACO2 1 83100 1.20337E-5 41550 0 4.04704E-6
22-41865166-C-T p.Leu6Leu synonymous ACO2 9 83084 1.08324E-4 41542 0 1.2157E-5
22-41865169-C-G p.Leu7Val missense ACO2 1 83062 1.20392E-5 41531 0 8.11148E-6
22-41865169-C-T p.Leu7Leu synonymous ACO2 1 83062 1.20392E-5 41531 0 8.29449E-6
22-41865172-G-A p.Val8Met missense ACO2 1 83044 1.20418E-5 41522 0 3.18431E-5
22-41865176-C-T p.Thr9Ile missense ACO2 4 83010 4.8187E-5 41505 0 4.97826E-5
22-41865181-C-T p.Leu11Leu synonymous ACO2 2 82942 2.41132E-5 41471 0 8.30027E-6
22-41895742-G-A p.Val17Met missense ACO2 1 83166 1.20241E-5 41583 0 NA
22-41895745-C-T p.Arg18Trp missense ACO2 9 83190 1.08186E-4 41595 0 3.18451E-4
22-41895753-C-T p.Tyr20Tyr synonymous ACO2 1 83244 1.20129E-5 41622 0 3.5878E-5
22-41895765-A-G p.Ser24Ser synonymous ACO2 25 83268 3.00235E-4 41634 0 3.18451E-4
22-41895777-A-G p.Gln28Gln synonymous ACO2 53 83280 6.36407E-4 41640 0 0.0014645
22-41895779-G-A p.Arg29Gln missense ACO2 1 83284 1.20071E-5 41642 0 2.47472E-5
22-41895791-C-T p.Ala33Val missense ACO2 2 83278 2.40159E-5 41639 0 1.19408E-5
22-41895797-G-C p.Ser35Thr missense ACO2 1 83300 1.20048E-5 41650 0 NA
22-41895801-C-G p.His36Gln missense ACO2 1 83310 1.20034E-5 41655 0 3.97807E-6
22-41895810-C-G p.Pro39Pro synonymous ACO2 4 83310 4.80134E-5 41655 0 7.41693E-5
22-41895812-A-G p.Asn40Ser missense ACO2 2 83308 2.40073E-5 41654 0 NA
22-41895813-C-T p.Asn40Asn synonymous ACO2 14 83316 1.68035E-4 41658 0 0.00453172
22-41895853-A-G p.Ile54Val missense ACO2 1 83306 1.20039E-5 41653 0 8.24783E-6
22-41895860-G-A p.Arg56His missense ACO2 1 83276 1.20083E-5 41638 0 8.253E-6
22-41895868-T-C c.173+2T>C splice_donor ACO2 1 83266 1.20097E-5 41633 0 3.98384E-6
22-41895872-G-C c.173+6G>C splice_region ACO2 3 83262 3.60308E-5 41631 0 3.18431E-5
22-41903787-C-A c.174-8C>A splice_region ACO2 1 81838 1.22193E-5 40919 0 8.92634E-6
22-41903792-C-T c.174-3C>T splice_region ACO2 1 81896 1.22106E-5 40948 0 NA
22-41903803-G-A p.Arg61Gln missense ACO2 2 82120 2.43546E-5 41060 0 2.59108E-5
22-41903807-G-C p.Pro62Pro synonymous ACO2 1 82290 1.21521E-5 41145 0 NA
22-41903813-A-C p.Thr64Thr synonymous ACO2 22203 81564 0.272216 40782 3400 0.334461
22-41903819-G-A p.Ser66Ser synonymous ACO2 4 82680 4.83793E-5 41340 0 9.5511E-5
22-41903829-G-T p.Val70Leu missense ACO2 1 82944 1.20563E-5 41472 0 NA
22-41903837-A-T p.Gly72Gly synonymous ACO2 1 82958 1.20543E-5 41479 0 NA
22-41903841-C-G p.Leu74Val missense ACO2 295 83014 0.00355362 41507 1 0.00414415
22-41903849-C-T p.Asp76Asp synonymous ACO2 1 83102 1.20334E-5 41551 0 NA
22-41903851-C-T p.Pro77Leu missense ACO2 1 83122 1.20305E-5 41561 0 NA
22-41903852-C-T p.Pro77Pro synonymous ACO2 135 83116 0.00162424 41558 1 0.00321554
22-41903866-T-C p.Ile82Thr missense ACO2 3 83220 3.6049E-5 41610 1 8.75671E-5
22-41903880-T-C p.Ser87Pro missense ACO2 1 83216 1.20169E-5 41608 0 NA
22-41903881-C-T p.Ser87Leu missense ACO2 2 83222 2.40321E-5 41611 0 7.1672E-5
22-41903882-G-A p.Ser87Ser synonymous ACO2 2 83220 2.40327E-5 41610 0 1.99081E-5
22-41903890-G-A p.Arg90Gln missense ACO2 2 83216 2.40338E-5 41608 0 2.48793E-5
22-41903896-G-A p.Arg92Gln missense ACO2 1 83190 1.20207E-5 41595 0 3.18431E-5
22-41903897-G-T p.Arg92Arg synonymous ACO2 1 83194 1.20201E-5 41597 0 1.99181E-5
22-41903900-G-A p.Pro93Pro synonymous ACO2 1 83156 1.20256E-5 41578 0 6.25E-4
22-41903903-C-T p.Asp94Asp synonymous ACO2 27 83172 3.24628E-4 41586 0 3.90283E-4
22-41903904-C-T p.Arg95Cys missense ACO2 1 83174 1.2023E-5 41587 0 NA
22-41903907-G-A p.Val96Met missense ACO2 1 83160 1.2025E-5 41580 0 NA
22-41903918-G-A p.Gln99Gln synonymous ACO2 2 83162 2.40494E-5 41581 0 NA
22-41903927-G-A p.Thr102Thr synonymous ACO2 1 83110 1.20322E-5 41555 0 1.65541E-5
22-41903945-C-T p.Leu108Leu synonymous ACO2 2 83142 2.40552E-5 41571 0 NA
22-41903948-G-A p.Gln109Gln synonymous ACO2 1 83152 1.20262E-5 41576 0 3.1841E-5
22-41903960-C-T p.Ser113Ser synonymous ACO2 3 83082 3.61089E-5 41541 0 5.03525E-4
22-41904029-C-T p.Gly136Gly synonymous ACO2 6 81996 7.31743E-5 40998 0 5.81251E-5
22-41904029-C-A p.Gly136Gly synonymous ACO2 1 81996 1.21957E-5 40998 0 NA
22-41904030-G-A p.Glu137Lys missense ACO2 1 82018 1.21924E-5 41009 0 5.20758E-5
22-41904038-C-T p.Asp139Asp synonymous ACO2 1 81984 1.21975E-5 40992 0 NA
22-41904043-G-A p.Arg141His missense ACO2 3 81820 3.66659E-5 40910 0 5.88492E-5
22-41904045-C-T p.Arg142Trp missense ACO2 1 81792 1.22261E-5 40896 0 6.37267E-5
22-41904054-G-GACATCAACCAGGAAGTTTATAATTTCC c.432+1_432+2insACATCAACCAGGAAGTTTATAATTTCC splice_donor ACO2 6 81712 7.34286E-5 40856 2 NA
22-41907930-T-C p.Tyr161Tyr synonymous ACO2 1 82930 1.20584E-5 41465 0 1.73674E-4
22-41907933-C-T p.Gly162Gly synonymous ACO2 391 82882 0.00471755 41441 5 0.0100695
22-41907934-G-T p.Val163Leu missense ACO2 9 82914 1.08546E-4 41457 0 1.21286E-4
22-41907934-G-C p.Val163Leu missense ACO2 1 82914 1.20607E-5 41457 0 6.37024E-5
22-41907946-A-C p.Lys167Gln missense ACO2 1 82888 1.20645E-5 41444 0 NA
22-41907968-A-G p.His174Arg missense ACO2 1 82584 1.21089E-5 41292 0 4.10921E-6
22-41907978-G-A c.525+6G>A splice_region ACO2 1 82382 1.21386E-5 41191 0 NA
22-41911373-T-C c.526-8T>C splice_region ACO2 1 81210 1.23138E-5 40605 0 NA
22-41911400-C-T p.Ala182Val missense ACO2 1 81908 1.22088E-5 40954 0 3.18593E-5
22-41911401-G-A p.Ala182Ala synonymous ACO2 17 81938 2.07474E-4 40969 1 8.23968E-5
22-41911406-C-A p.Pro184His missense ACO2 1 82146 1.21734E-5 41073 0 NA
22-41911417-C-T p.Leu188Leu synonymous ACO2 1 82376 1.21395E-5 41188 0 NA
22-41911428-T-C p.Thr191Thr synonymous ACO2 33 82520 3.99903E-4 41260 0 0.00306122
22-41911431-C-T p.Asp192Asp synonymous ACO2 1 82564 1.21118E-5 41282 0 NA
22-41911435-C-T p.His194Tyr missense ACO2 1 82606 1.21057E-5 41303 0 NA
22-41911437-C-T p.His194His synonymous ACO2 1 82620 1.21036E-5 41310 0 8.23913E-6
22-41911439-C-T p.Thr195Ile missense ACO2 3 82638 3.63029E-5 41319 0 1.19343E-5
22-41911440-C-T p.Thr195Thr synonymous ACO2 4 82642 4.84015E-5 41321 0 NA
22-41911442-C-A p.Pro196His missense ACO2 1 82682 1.20945E-5 41341 0 NA
22-41911445-A-G p.Asn197Ser missense ACO2 1 82712 1.20901E-5 41356 0 7.95729E-6
22-41911452-C-T p.Gly199Gly synonymous ACO2 2 82786 2.41587E-5 41393 0 1.07148E-4
22-41911455-C-T p.Gly200Gly synonymous ACO2 1 82824 1.20738E-5 41412 0 NA
22-41911465-A-C p.Ile204Leu missense ACO2 1 82934 1.20578E-5 41467 0 3.18715E-5
22-41911469-G-T p.Cys205Phe missense ACO2 2 82972 2.41045E-5 41486 0 NA
22-41911488-C-T p.Ala211Ala synonymous ACO2 3 82994 3.61472E-5 41497 0 9.91097E-5
22-41911517-C-T p.Pro221Leu missense ACO2 1 82830 1.20729E-5 41415 0 NA
22-41911525-C-T p.Leu224Leu synonymous ACO2 32161 80156 0.40123 40078 6855 0.399274
22-41911536-C-A p.Pro227Pro synonymous ACO2 3 82784 3.62389E-5 41392 0 5.06073E-4
22-41911540-G-T c.684+1G>T splice_donor ACO2 1 82818 1.20747E-5 41409 0 1.22776E-5
22-41911543-AG-A c.684+5delG splice_region ACO2 1 82788 1.2079E-5 41394 0 NA
22-41911774-A-G p.Ile230Val missense ACO2 1 82676 1.20954E-5 41338 0 3.18674E-5
22-41911789-A-G p.Thr235Ala missense ACO2 1 82946 1.2056E-5 41473 0 3.97678E-6
22-41911800-C-T p.Leu238Leu synonymous ACO2 7 83100 8.42359E-5 41550 0 2.22958E-4
22-41911800-C-G p.Leu238Leu synonymous ACO2 1 83100 1.20337E-5 41550 0 NA
22-41911804-G-A p.Gly240Ser missense ACO2 2 83106 2.40657E-5 41553 0 6.7603E-5
22-41911805-G-C p.Gly240Ala missense ACO2 73 83136 8.78079E-4 41568 0 6.36943E-4
22-41911816-C-T p.Pro244Ser missense ACO2 1 83218 1.20166E-5 41609 0 6.25782E-4
22-41911826-T-C p.Val247Ala missense ACO2 2 83236 2.40281E-5 41618 0 8.239E-6
22-41911847-T-C p.Ile254Thr missense ACO2 1 83294 1.20057E-5 41647 0 3.97674E-6
22-41911866-C-A p.Gly260Gly synonymous ACO2 2 83270 2.40183E-5 41635 0 3.97728E-6
22-41911875-A-C p.Ala263Ala synonymous ACO2 2 83256 2.40223E-5 41628 0 NA
22-41911878-C-T p.Ile264Ile synonymous ACO2 1 83234 1.20143E-5 41617 0 6.67134E-5
22-41911879-G-A p.Val265Met missense ACO2 1 83230 1.20149E-5 41615 0 3.97902E-6
22-41911890-C-T p.His268His synonymous ACO2 3 83202 3.60568E-5 41601 0 3.41134E-5
22-41911895-C-G p.Pro270Arg missense ACO2 1 83210 1.20178E-5 41605 0 NA
22-41911930-G-A p.Gly282Ser missense ACO2 1 83052 1.20406E-5 41526 0 NA
22-41911932-C-T p.Gly282Gly synonymous ACO2 5 83002 6.02395E-5 41501 0 5.67279E-5
22-41911937-A-G p.Gln284Arg missense ACO2 2 82956 2.41092E-5 41478 0 3.18471E-5
22-41911941-G-A p.Ala285Ala synonymous ACO2 3 82900 3.61882E-5 41450 0 5.13176E-5
22-41911944-G-A p.Thr286Thr synonymous ACO2 6 82872 7.24008E-5 41436 0 1.1883E-4
22-41911956-C-T p.Pro290Pro synonymous ACO2 14 82648 1.69393E-4 41324 0 1.91058E-4
22-41911966-C-T p.Pro294Ser missense ACO2 1 82426 1.21321E-5 41213 0 4.81227E-6
22-41911968-TG-T p.Asp295fs frameshift ACO2 2 82436 2.42612E-5 41218 0 NA
22-41911971-T-G p.Asp295Glu missense ACO2 1 82372 1.214E-5 41186 0 2.01483E-5
22-41911988-G-T p.Ser301Ile missense ACO2 3 81890 3.66345E-5 40945 0 2.90681E-5
22-41911995-C-T p.Ser303Ser splice_region+synonymous ACO2 6 81656 7.3479E-5 40828 0 6.81849E-5
22-41911999-G-C c.910+3G>C splice_region ACO2 1 81506 1.2269E-5 40753 0 NA
22-41913297-C-T n.175-4C>T splice_region ACO2 1 16872 5.92698E-5 8436 0 NA
22-41913552-T-C p.Met286Thr missense ACO2 1 82524 1.21177E-5 41262 0 NA
22-41913574-C-T p.Thr293Thr synonymous ACO2 1 82770 1.20817E-5 41385 0 NA
22-41913577-T-A p.Thr294Thr synonymous ACO2 1 82846 1.20706E-5 41423 0 NA
22-41913580-C-T p.Ser295Ser synonymous ACO2 1 82856 1.20691E-5 41428 0 1.99046E-5
22-41913580-C-A p.Ser295Ser synonymous ACO2 1 82856 1.20691E-5 41428 0 NA
22-41913589-T-C p.Pro298Pro synonymous ACO2 1 82932 1.20581E-5 41466 0 NA
22-41913625-C-T p.Thr310Thr synonymous ACO2 6 82726 7.25286E-5 41363 0 1.27389E-4
22-41913626-G-A p.Gly311Ser missense ACO2 2 82698 2.41844E-5 41349 0 2.49771E-5
22-41913628-C-T p.Gly311Gly synonymous ACO2 40 82682 4.83781E-4 41341 0 3.10735E-4
22-41913631-G-A p.Arg312Arg synonymous ACO2 1 82664 1.20972E-5 41332 0 NA
22-41914488-T-C p.Ile315Thr missense ACO2 1 83138 1.20282E-5 41569 0 NA
22-41914494-A-G p.Asn317Ser missense ACO2 5 83136 6.01424E-5 41568 0 1.27462E-4
22-41914498-A-G p.Leu318Leu synonymous ACO2 1 83156 1.20256E-5 41578 0 NA
22-41914500-C-G p.Ala319Gly missense ACO2 2 83154 2.40518E-5 41577 0 NA
22-41914503-A-G p.Asp320Gly missense ACO2 2 83150 2.40529E-5 41575 0 NA
22-41914513-G-T p.Lys323Asn missense ACO2 2 83094 2.40691E-5 41547 0 NA
22-41914514-G-A p.Asp324Asn missense ACO2 2 83078 2.40738E-5 41539 0 1.64734E-5
22-41914520-T-C p.Leu326Leu synonymous ACO2 5 83040 6.02119E-5 41520 0 1.98881E-5
22-41914531-C-T p.Asp329Asp synonymous ACO2 67 82870 8.08495E-4 41435 1 5.09684E-4
22-41914532-C-T p.Pro330Ser missense ACO2 2 82864 2.41359E-5 41432 0 4.94193E-5
22-41914536-G-A p.Gly331Asp missense ACO2 1 82782 1.20799E-5 41391 0 NA
22-41914542-A-G p.His333Arg missense ACO2 2 82730 2.4175E-5 41365 0 NA
22-41914550-C-A p.Gln336Lys missense ACO2 1 82588 1.21083E-5 41294 0 NA
22-41914564-T-A p.Ile340Ile synonymous ACO2 3 82356 3.64272E-5 41178 0 1.23548E-4
22-41914574-G-A p.Glu344Lys missense+splice_region ACO2 3 82172 3.65088E-5 41086 0 2.47097E-5
22-41914577-G-C c.1032+1G>C splice_donor ACO2 2 82108 2.43582E-5 41054 0 NA
22-41914582-G-A c.1032+6G>A splice_region ACO2 2 82006 2.43885E-5 41003 0 NA
22-41914584-G-T c.1032+8G>T splice_region ACO2 1 81948 1.22029E-5 40974 0 3.98298E-6
22-41916180-G-A p.Lys346Lys synonymous ACO2 16 82704 1.93461E-4 41352 0 4.14065E-4
22-41916191-A-G p.Asn350Ser missense ACO2 8 82904 9.64972E-5 41452 0 0.00101729
22-41916217-C-T p.His359Tyr missense ACO2 2 83084 2.4072E-5 41542 0 7.95621E-6
22-41916233-T-C p.Val364Ala missense ACO2 1 83068 1.20383E-5 41534 0 3.18796E-5
22-41916255-A-G p.Glu371Glu synonymous ACO2 6 82886 7.23886E-5 41443 0 6.37186E-5
22-41916273-C-CTGGTGG p.Ile377_Arg378insTrpTrp conservative_inframe_insertion ACO2 1 82546 1.21145E-5 41273 0 NA
22-41916275-G-A p.Arg378Gln missense ACO2 1 82530 1.21168E-5 41265 0 2.78973E-5
22-41916280-G-A p.Gly380Ser missense+splice_region ACO2 1 82444 1.21294E-5 41222 0 NA
22-41916283-G-A c.1138+3G>A splice_region ACO2 3 82376 3.64184E-5 41188 0 1.7021E-5
22-41918827-G-T c.1139-7G>T splice_region ACO2 1 82202 1.21652E-5 41101 0 9.55536E-5
22-41918828-C-T c.1139-6C>T splice_region ACO2 3 82250 3.64742E-5 41125 0 3.1839E-5
22-41918855-A-G p.Asn387Ser missense ACO2 1 82806 1.20764E-5 41403 0 3.97893E-6
22-41918913-T-C p.His406His synonymous ACO2 2 83150 2.40529E-5 41575 0 NA
22-41918934-G-T p.Gln413His missense ACO2 2 83204 2.40373E-5 41602 0 3.97693E-6
22-41918954-C-G p.Ser420Cys missense ACO2 2 83222 2.40321E-5 41611 0 3.97741E-6
22-41918965-C-T p.Arg424Cys missense ACO2 2 83180 2.40442E-5 41590 0 2.47325E-5
22-41918974-A-G p.Ile427Val missense ACO2 6 83194 7.21206E-5 41597 0 5.03525E-4
22-41918986-G-A p.Gly431Ser missense ACO2 2 83096 2.40685E-5 41548 0 9.5511E-5
22-41918990-A-G p.Tyr432Cys missense+splice_region ACO2 1 83076 1.20372E-5 41538 0 3.98349E-6
22-41918991-T-C p.Tyr432Tyr splice_region+synonymous ACO2 1 83074 1.20375E-5 41537 0 NA
22-41918996-GTGCCCATATCCCCC-G c.1296+6_1296+19delTGCCCATATCCCCC splice_region ACO2 2 83022 2.409E-5 41511 0 7.97277E-6
22-41919225-A-G p.Asp438Gly missense ACO2 1 82312 1.21489E-5 41156 0 NA
22-41919236-A-C p.Ile442Leu missense ACO2 1 82360 1.21418E-5 41180 0 NA
22-41919259-C-T p.Gly449Gly synonymous ACO2 1 82114 1.21782E-5 41057 0 NA
22-41919283-G-GAAGGACA c.1370+1_1370+2insAAGGACA splice_donor ACO2 1 81836 1.22196E-5 40918 0 NA
22-41919285-A-C c.1370+3A>C splice_region ACO2 1 81736 1.22345E-5 40868 0 NA
22-41919832-A-AGGAAGGACATCAAGAAGGGGG c.1371-2_1371-1insGGAAGGACATCAAGAAGGGGG splice_acceptor ACO2 1 82306 1.21498E-5 41153 0 NA
22-41919850-G-T p.Gly463Trp missense ACO2 8 82404 9.70827E-5 41202 0 6.60502E-4
22-41919850-G-C p.Gly463Arg missense ACO2 1 82404 1.21353E-5 41202 0 3.18857E-5
22-41919853-GAGA-G p.Lys465del disruptive_inframe_deletion ACO2 1 82400 1.21359E-5 41200 0 NA
22-41919854-AGA-GGG p.GluLys464GlyGlu missense ACO2 1 82396 1.21365E-5 41198 0 NA
22-41919863-C-T p.Thr467Ile missense ACO2 1 82452 1.21283E-5 41226 0 NA
22-41919865-A-G p.Ile468Val missense ACO2 2 82454 2.42559E-5 41227 0 3.97779E-6
22-41919868-G-A p.Val469Ile missense ACO2 4 82466 4.85048E-5 41233 0 3.29815E-5
22-41919894-G-A p.Thr477Thr synonymous ACO2 3 82660 3.62932E-5 41330 0 4.94829E-5
22-41919897-C-A p.Gly478Gly synonymous ACO2 2 82690 2.41867E-5 41345 0 NA
22-41919906-C-T p.Asp481Asp synonymous ACO2 2 82812 2.41511E-5 41406 0 4.12534E-5
22-41919915-C-T p.Pro484Pro synonymous ACO2 3 82908 3.61847E-5 41454 0 1.59148E-5
22-41919916-G-C p.Glu485Gln missense ACO2 1 82918 1.20601E-5 41459 0 8.25928E-6
22-41919916-G-A p.Glu485Lys missense ACO2 1 82918 1.20601E-5 41459 0 6.37105E-5
22-41919917-A-G p.Glu485Gly missense ACO2 1 82932 1.20581E-5 41466 0 NA
22-41919925-G-T p.Ala488Ser missense ACO2 1 82946 1.2056E-5 41473 0 1.65508E-5
22-41920865-G-A p.Ala500Thr missense ACO2 1 83196 1.20198E-5 41598 0 1.64783E-5
22-41920868-A-G p.Ile501Val missense ACO2 1 83206 1.20184E-5 41603 0 1.98826E-5
22-41920870-T-C p.Ile501Ile synonymous ACO2 3 83210 3.60534E-5 41605 0 NA
22-41920873-G-A p.Ala502Ala synonymous ACO2 1 83216 1.20169E-5 41608 0 3.97662E-6
22-41920885-G-A p.Lys506Lys synonymous ACO2 2 83230 2.40298E-5 41615 0 3.97643E-6
22-41920900-C-T p.Thr511Thr synonymous ACO2 5 83228 6.00759E-5 41614 0 3.57884E-5
22-41920911-C-T p.Thr515Met missense ACO2 3 83258 3.60326E-5 41629 0 7.414E-5
22-41920912-G-A p.Thr515Thr synonymous ACO2 10 83260 1.20106E-4 41630 0 6.25E-4
22-41920915-C-T p.Gly516Gly synonymous ACO2 1 83272 1.20088E-5 41636 0 3.97646E-6
22-41920916-A-T p.Thr517Ser missense ACO2 4 83268 4.80377E-5 41634 0 5.03525E-4
22-41920917-C-T p.Thr517Met missense ACO2 2 83264 2.402E-5 41632 0 0.00125
22-41920924-CAAG-C p.Lys521del conservative_inframe_deletion ACO2 1 83266 1.20097E-5 41633 0 8.23778E-6
22-41920948-G-A p.Pro527Pro synonymous ACO2 1 83280 1.20077E-5 41640 0 5.03525E-4
22-41920971-G-C p.Gly535Ala missense+splice_region ACO2 1 83188 1.2021E-5 41594 0 3.97788E-6
22-41920975-G-A c.1605+3G>A splice_region ACO2 48 83150 5.7727E-4 41575 2 0.00319868
22-41920978-C-T c.1605+6C>T splice_region ACO2 3 83126 3.60898E-5 41563 0 3.18532E-5
22-41920979-G-A c.1605+7G>A splice_region ACO2 23 83110 2.76742E-4 41555 0 7.00503E-4
22-41921202-T-C p.Phe537Phe synonymous ACO2 1 82478 1.21244E-5 41239 0 NA
22-41921204-A-T p.Asp538Val missense ACO2 1 82492 1.21224E-5 41246 0 3.99014E-6
22-41921208-A-G p.Pro539Pro synonymous ACO2 5 82508 6.06002E-5 41254 0 2.1467E-4
22-41921210-G-T p.Gly540Val missense ACO2 1 82480 1.21242E-5 41240 0 NA
22-41921216-A-C p.Asp542Ala missense ACO2 1 82520 1.21183E-5 41260 0 1.19556E-5
22-41921217-C-T p.Asp542Asp synonymous ACO2 1 82522 1.2118E-5 41261 0 8.25164E-6
22-41921225-A-G p.Gln545Arg missense ACO2 1 82546 1.21145E-5 41273 0 NA
22-41921234-C-T p.Pro548Leu missense ACO2 1 82540 1.21153E-5 41270 0 3.98108E-6
22-41921234-C-G p.Pro548Arg missense ACO2 1 82540 1.21153E-5 41270 0 8.24729E-6
22-41921238-G-T p.Lys549Asn missense ACO2 1 82558 1.21127E-5 41279 0 NA
22-41921240-A-T p.Asp550Val missense ACO2 3 82546 3.63434E-5 41273 0 3.98013E-6
22-41921241-C-T p.Asp550Asp synonymous ACO2 1 82578 1.21098E-5 41289 0 3.9808E-6
22-41921247-C-T p.Ser552Ser synonymous ACO2 4 82512 4.84778E-5 41256 0 7.00771E-4
22-41921262-C-T p.Asp557Asp synonymous ACO2 2 82442 2.42595E-5 41221 0 6.59946E-5
22-41921278-C-G p.Gln563Glu missense ACO2 2 82522 2.4236E-5 41261 0 NA
22-41921299-C-A p.Pro570Thr missense ACO2 12 82280 1.45843E-4 41140 0 9.55536E-5
22-41921317-G-A p.Gly576Ser missense ACO2 1 81810 1.22234E-5 40905 0 NA
22-41921318-G-A p.Gly576Asp missense ACO2 1 81694 1.22408E-5 40847 0 NA
22-41921332-G-A p.Asp581Asn missense ACO2 1 80864 1.23664E-5 40432 0 3.98667E-6
22-41922261-C-T c.1762-5C>T splice_region ACO2 1 82622 1.21033E-5 41311 0 3.99613E-6
22-41922269-A-C p.Lys589Gln missense ACO2 1 82792 1.20785E-5 41396 0 3.18634E-5
22-41922273-G-T p.Gly590Val missense ACO2 1 82840 1.20715E-5 41420 0 NA
22-41922274-G-A p.Gly590Gly synonymous ACO2 2 82872 2.41336E-5 41436 0 6.36821E-5
22-41922289-C-T p.Asp595Asp synonymous ACO2 1 83082 1.20363E-5 41541 0 NA
22-41922324-G-A p.Arg607His missense ACO2 1 83126 1.20299E-5 41563 0 3.98629E-6
22-41922340-C-T p.Asn612Asn synonymous ACO2 1 83116 1.20314E-5 41558 0 NA
22-41922364-T-C p.Gly620Gly synonymous ACO2 1 83006 1.20473E-5 41503 0 3.99543E-6
22-41922365-G-A p.Ala621Thr missense ACO2 1 83012 1.20465E-5 41506 0 NA
22-41922376-T-A p.Ile624Ile synonymous ACO2 1 82960 1.2054E-5 41480 0 8.24851E-6
22-41922382-C-T p.Asn626Asn synonymous ACO2 5 82906 6.03093E-5 41453 0 1.65003E-5
22-41922383-G-A p.Gly627Ser missense ACO2 33 82880 3.98166E-4 41440 0 4.53795E-4
22-41922397-C-T p.Ser631Ser synonymous ACO2 24 82776 2.89939E-4 41388 0 1.59195E-4
22-41922401-C-T p.Arg633Cys missense ACO2 1 82700 1.20919E-5 41350 0 1.19973E-5
22-41922402-G-A p.Arg633His missense ACO2 1 82698 1.20922E-5 41349 0 NA
22-41922409-C-T p.Ala635Ala synonymous ACO2 11 82644 1.33101E-4 41322 0 9.55475E-5
22-41922424-T-A p.Phe640Leu missense ACO2 1 82476 1.21247E-5 41238 0 NA
22-41922428-C-T p.Pro642Ser missense ACO2 3 82492 3.63672E-5 41246 0 1.67969E-4
22-41922430-C-T p.Pro642Pro synonymous ACO2 6 82580 7.26568E-5 41290 0 6.3678E-5
22-41922431-G-A p.Val643Ile missense ACO2 6 82574 7.26621E-5 41287 0 1.99965E-5
22-41922433-C-T p.Val643Val synonymous ACO2 1 82586 1.21086E-5 41293 0 NA
22-41922449-T-C p.Tyr649His missense ACO2 1 82348 1.21436E-5 41174 0 NA
22-41922451-C-T p.Tyr649Tyr synonymous ACO2 2 82310 2.42984E-5 41155 0 NA
22-41922461-G-T c.1953+4G>T splice_region ACO2 1 82004 1.21945E-5 41002 0 NA
22-41923312-G-T p.Val658Val synonymous ACO2 1 83074 1.20375E-5 41537 0 8.25873E-6
22-41923318-C-T p.Ile660Ile synonymous ACO2 170 83054 0.00204686 41527 0 0.0054826
22-41923324-C-T p.Asp662Asp synonymous ACO2 11 83046 1.32457E-4 41523 0 6.25E-4
22-41923333-C-T p.Tyr665Tyr synonymous ACO2 4 83006 4.81893E-5 41503 0 5.03525E-4
22-41923336-C-T p.Gly666Gly synonymous ACO2 1 82962 1.20537E-5 41481 0 8.28858E-6
22-41923345-G-A p.Ser669Ser synonymous ACO2 2 82812 2.41511E-5 41406 0 8.27212E-6
22-41923345-G-C p.Ser669Ser synonymous ACO2 2 82812 2.41511E-5 41406 0 8.27212E-6
22-41923349-C-T p.Arg671Trp missense ACO2 1 82904 1.20621E-5 41452 0 4.0076E-6
22-41923363-T-C p.Ala675Ala synonymous ACO2 1 82978 1.20514E-5 41489 0 4.00583E-6
22-41923370-C-A p.Pro678Thr missense ACO2 2 82972 2.41045E-5 41486 0 NA
22-41923384-G-A p.Gly682Gly synonymous ACO2 1 83032 1.20435E-5 41516 0 8.30055E-6
22-41923388-C-T p.Arg684Trp missense ACO2 2 83014 2.40923E-5 41507 0 9.56084E-5
22-41923389-G-A p.Arg684Gln missense ACO2 11 83038 1.32469E-4 41519 0 5.04032E-4
22-41923390-G-A p.Arg684Arg synonymous ACO2 1 83040 1.20424E-5 41520 0 NA
22-41923393-C-G p.Ala685Ala synonymous ACO2 1 83054 1.20404E-5 41527 0 8.32806E-6
22-41923400-A-T p.Thr688Ser missense ACO2 5 83046 6.02076E-5 41523 0 3.18735E-5
22-41923414-C-T p.Ala692Ala synonymous ACO2 1 83000 1.20482E-5 41500 0 NA
22-41923423-C-T p.His695His splice_region+synonymous ACO2 6 82916 7.23624E-5 41458 0 6.37592E-5
22-41923912-C-T p.Asn698Asn synonymous ACO2 2 83220 2.40327E-5 41610 0 NA
22-41923931-C-T p.Leu705Leu synonymous ACO2 5 83254 6.00572E-5 41627 0 1.31595E-4
22-41923933-G-T p.Leu705Leu synonymous ACO2 1 83262 1.20103E-5 41631 0 NA
22-41923941-C-T p.Thr708Ile missense ACO2 1 83258 1.20109E-5 41629 0 7.97614E-6
22-41923945-C-T p.Phe709Phe synonymous ACO2 36 83262 4.3237E-4 41631 0 6.05751E-4
22-41923951-C-T p.Asp711Asp synonymous ACO2 1 83266 1.20097E-5 41633 0 8.23818E-6
22-41923953-C-T p.Pro712Leu missense ACO2 8 83268 9.60753E-5 41634 0 9.56084E-5
22-41923954-G-A p.Pro712Pro synonymous ACO2 2 83262 2.40206E-5 41631 0 6.3743E-5
22-41923955-G-A p.Ala713Thr missense ACO2 1 83258 1.20109E-5 41629 0 8.23845E-6
22-41923966-C-G p.Asn716Lys missense ACO2 1 83288 1.20065E-5 41644 0 5.03525E-4
22-41924002-C-T p.Gly728Gly synonymous ACO2 6 83256 7.20669E-5 41628 0 NA
22-41924012-T-C p.Phe732Leu missense ACO2 1 83250 1.2012E-5 41625 0 NA
22-41924015-A-G p.Thr733Ala missense ACO2 1 83220 1.20163E-5 41610 0 3.19081E-5
22-41924016-C-A p.Thr733Asn missense ACO2 1 83220 1.20163E-5 41610 0 1.59375E-5
22-41924022-G-A p.Gly735Asp missense ACO2 1 83180 1.20221E-5 41590 0 NA
22-41924031-G-C c.2208+5G>C splice_region ACO2 1 83148 1.20267E-5 41574 0 1.65207E-5
22-41924472-TCTC-T c.2209-8_2209-6delCCT splice_region ACO2 2 83030 2.40877E-5 41515 0 8.33069E-6
22-41924475-CCTT-C c.2209-7_2209-5delCTT splice_region ACO2 3 83100 3.61011E-5 41550 0 3.32867E-5
22-41924483-C-A p.Pro737Thr missense+splice_region ACO2 4 83152 4.81047E-5 41576 0 6.37227E-5
22-41924488-G-C p.Leu738Leu synonymous ACO2 3 83186 3.60638E-5 41593 0 1.65574E-5
22-41924488-G-A p.Leu738Leu synonymous ACO2 1 83186 1.20213E-5 41593 0 3.18532E-5
22-41924500-C-T p.Ile742Ile synonymous ACO2 7 83206 8.41286E-5 41603 0 1.59226E-4
22-41924502-A-G p.Lys743Arg missense ACO2 1 83204 1.20187E-5 41602 0 1.59344E-5
22-41924511-A-G p.Asn746Ser missense ACO2 1 83204 1.20187E-5 41602 0 7.96711E-6
22-41924512-C-T p.Asn746Asn synonymous ACO2 2 83202 2.40379E-5 41601 0 1.64992E-5
22-41924524-G-A p.Glu750Glu synonymous ACO2 1 83224 1.20158E-5 41612 0 NA
22-41924536-G-A p.Leu754Leu synonymous ACO2 1 83196 1.20198E-5 41598 0 8.24797E-6
22-41924551-C-T p.Asn759Asn synonymous ACO2 3 83138 3.60846E-5 41569 0 1.65063E-5
22-41924552-G-A p.Glu760Lys missense ACO2 38 83116 4.57192E-4 41558 0 0.00151057
22-41924556-C-T p.Thr761Met missense ACO2 6 83108 7.21952E-5 41554 0 1.59327E-4
22-41924557-G-A p.Thr761Thr synonymous ACO2 2 83098 2.4068E-5 41549 0 3.30202E-5
22-41924566-G-C p.Glu764Asp missense ACO2 1 83012 1.20465E-5 41506 0 8.02639E-6
22-41924573-C-T p.Arg767Cys missense ACO2 4 82876 4.82649E-5 41438 0 5.79585E-5
22-41924574-G-A p.Arg767His missense ACO2 1 82786 1.20793E-5 41393 0 2.01066E-4
22-41924575-C-T p.Arg767Arg synonymous ACO2 5 82754 6.042E-5 41377 0 1.27462E-4
22-41924982-ACTGTT-A c.*370_*374delTCTGT splice_region ACO2 1 55710 1.79501E-5 27855 0 6.37186E-5
22-41924991-T-A c.*374T>A splice_region ACO2 1 55310 1.80799E-5 27655 0 NA