Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-7967044-C-G c.*1673G>C splice_region ABLIM2 6 44820 1.33869E-4 22410 0 1.27348E-4
4-7967057-T-C n.1943A>G splice_region ABLIM2 1 44860 2.22916E-5 22430 0 NA
4-7968087-C-T c.*630G>A splice_region ABLIM2 1 44906 2.22687E-5 22453 0 NA
4-7968088-G-A c.*629C>T splice_region ABLIM2 5 44906 1.11344E-4 22453 0 6.37064E-5
4-7968723-C-T p.Leu572Leu synonymous ABLIM2 1 80208 1.24676E-5 40104 0 NA
4-7968726-A-T p.Leu571Leu synonymous ABLIM2 3 80434 3.72977E-5 40217 0 NA
4-7968747-A-G p.Asn564Asn synonymous ABLIM2 3 80940 3.70645E-5 40470 0 6.37959E-5
4-7968753-C-T p.Lys562Lys synonymous ABLIM2 1 80896 1.23616E-5 40448 0 8.35883E-6
4-7968759-G-A p.Leu560Leu synonymous ABLIM2 1 80814 1.23741E-5 40407 0 NA
4-7968765-C-G p.Leu558Leu synonymous ABLIM2 1 80702 1.23913E-5 40351 0 4.01336E-6
4-7968769-C-A p.Arg557Leu missense ABLIM2 2 80608 2.48114E-5 40304 0 1.60559E-5
4-7968770-G-A p.Arg557Cys missense ABLIM2 2 80638 2.48022E-5 40319 0 3.33606E-5
4-7968778-T-C p.Glu554Gly missense ABLIM2 1 80598 1.24073E-5 40299 0 4.01436E-6
4-7968782-C-T p.Glu553Lys missense ABLIM2 3 80624 3.72098E-5 40312 0 3.3325E-5
4-7968782-C-G p.Glu553Gln missense ABLIM2 1 80624 1.24033E-5 40312 0 3.18776E-5
4-7968783-G-A p.Ile552Ile synonymous ABLIM2 4 80584 4.96376E-5 40292 0 3.33228E-5
4-7968792-C-A p.Gly549Gly synonymous ABLIM2 1 80518 1.24196E-5 40259 0 1.41568E-4
4-7968803-C-T p.Glu546Lys missense ABLIM2 89 80484 0.00110581 40242 1 0.00267772
4-7968815-C-T p.Glu542Lys missense ABLIM2 5 80278 6.22836E-5 40139 0 9.99833E-5
4-7968816-G-A p.Pro541Pro synonymous ABLIM2 3 80216 3.7399E-5 40108 1 1.20714E-5
4-7968818-G-A p.Pro541Ser missense ABLIM2 1 80146 1.24772E-5 40073 0 3.33322E-5
4-7968819-C-T p.Ser540Ser synonymous ABLIM2 21 80116 2.6212E-4 40058 0 5.03525E-4
4-7968820-G-A p.Ser540Leu missense ABLIM2 52 80082 6.49334E-4 40041 0 5.35547E-4
4-7968829-C-G p.Arg537Thr missense+splice_region ABLIM2 4 79816 5.01153E-5 39908 0 NA
4-7968834-C-G c.1609-4G>C splice_region ABLIM2 1 79692 1.25483E-5 39846 0 NA
4-7984984-C-T c.1608+7G>A splice_region ABLIM2 2 82282 2.43067E-5 41141 0 6.36983E-5
4-7984985-G-A c.1608+6C>T splice_region ABLIM2 1 82302 1.21504E-5 41151 0 1.33769E-5
4-7985000-C-T p.Thr533Thr synonymous ABLIM2 2 82376 2.42789E-5 41188 0 1.14653E-5
4-7985001-G-A p.Thr533Met missense ABLIM2 1 82376 1.21395E-5 41188 0 3.68828E-5
4-7985005-G-A p.Arg532Trp missense ABLIM2 2 82396 2.4273E-5 41198 0 8.17575E-6
4-7985012-G-A p.Asp529Asp synonymous ABLIM2 1 82418 1.21333E-5 41209 0 1.03998E-5
4-7985030-G-A p.Arg523Arg synonymous ABLIM2 12 82452 1.45539E-4 41226 0 3.18552E-4
4-7985031-C-T p.Arg523His missense ABLIM2 1 82450 1.21286E-5 41225 0 2.03018E-5
4-7985031-C-G p.Arg523Pro missense ABLIM2 2 82450 2.42571E-5 41225 0 NA
4-7985032-G-A p.Arg523Cys missense ABLIM2 1 82458 1.21274E-5 41229 0 3.18471E-5
4-7985037-C-T p.Arg521Gln missense ABLIM2 2 82462 2.42536E-5 41231 0 6.37146E-5
4-7985038-G-A p.Arg521* stop_gained ABLIM2 1 82464 1.21265E-5 41232 0 NA
4-7985041-T-C p.Asn520Asp missense ABLIM2 1 82458 1.21274E-5 41229 0 NA
4-7985042-T-C p.Thr519Thr synonymous ABLIM2 2 82460 2.42542E-5 41230 0 9.85824E-6
4-7985047-C-T p.Val518Ile missense ABLIM2 17 82450 2.06186E-4 41225 1 6.25E-4
4-7985048-G-A p.Ile517Ile synonymous ABLIM2 1 82454 1.2128E-5 41227 0 3.96322E-5
4-7985048-G-T p.Ile517Ile synonymous ABLIM2 1 82454 1.2128E-5 41227 0 1.21931E-5
4-7985051-G-A p.Leu516Leu synonymous ABLIM2 1 82462 1.21268E-5 41231 0 4.06527E-6
4-7985055-G-A p.Ser515Phe missense ABLIM2 1 82448 1.21289E-5 41224 0 NA
4-7985059-C-T p.Asp514Asn missense ABLIM2 1 82450 1.21286E-5 41225 0 NA
4-7985063-C-T p.Pro512Pro synonymous ABLIM2 17 82438 2.06216E-4 41219 0 0.00100705
4-7985064-G-A p.Pro512Leu missense ABLIM2 1 82440 1.213E-5 41220 0 4.08891E-6
4-7985065-G-T p.Pro512Thr missense ABLIM2 2 82438 2.42607E-5 41219 0 1.01893E-5
4-7985069-G-C p.Ile510Met missense+splice_region ABLIM2 2 82438 2.42607E-5 41219 0 8.1933E-6
4-7985075-T-C p.Gln506Gln splice_region+synonymous ABLIM2 14 82416 1.6987E-4 41208 0 1.0408E-4
4-7985081-G-A c.1517-5C>T splice_region ABLIM2 484 82384 0.00587493 41192 11 0.0111783
4-7985267-C-T c.846+7G>A splice_region ABLIM2 23 82120 2.80078E-4 41060 0 3.50274E-4
4-7985286-AAG-A c.839-7_839-6delCT splice_region ABLIM2 3 82090 3.65453E-5 41045 0 7.39495E-4
4-7985286-A-AAG c.839-6_839-5insCT splice_region ABLIM2 123 82070 0.00149872 41035 0 0.00334651
4-7985286-AAGAG-A c.839-9_839-6delCTCT splice_region ABLIM2 8 82096 9.74469E-5 41048 1 1.27486E-4
4-7985286-A-G c.839-5T>C splice_region ABLIM2 1 82096 1.21809E-5 41048 0 1.47899E-4
4-7986569-G-A p.Arg279* stop_gained ABLIM2 2 81896 2.44212E-5 40948 0 8.76778E-6
4-7986571-A-G p.Met278Thr missense ABLIM2 2 81896 2.44212E-5 40948 0 3.64087E-5
4-7986573-G-A p.Gly277Gly synonymous ABLIM2 3 81914 3.66238E-5 40957 0 6.37186E-5
4-7986573-GC-G p.Gly277fs frameshift ABLIM2 6 81914 7.32476E-5 40957 0 8.90631E-5
4-7986574-C-G p.Gly277Ala missense ABLIM2 1 81914 1.22079E-5 40957 0 NA
4-7986580-C-T p.Ser275Asn missense ABLIM2 1 81964 1.22005E-5 40982 0 4.25416E-6
4-7986583-G-C p.Ala274Gly missense ABLIM2 5 81962 6.10039E-5 40981 0 3.05297E-5
4-7986589-G-A p.Pro272Leu missense ABLIM2 1 81982 1.21978E-5 40991 0 1.25891E-5
4-7986591-G-T p.Asp271Glu missense ABLIM2 1 82010 1.21936E-5 41005 0 4.18522E-6
4-7986612-A-T p.Asn264Lys missense ABLIM2 1 81980 1.21981E-5 40990 0 NA
4-7986613-T-C p.Asn264Ser missense ABLIM2 3 81998 3.65863E-5 40999 0 6.37267E-5
4-7986620-T-A p.Asn262Tyr missense+splice_region ABLIM2 3 81984 3.65925E-5 40992 0 NA
4-7986628-A-G c.784-8T>C splice_region ABLIM2 1 81960 1.22011E-5 40980 0 4.19217E-6
4-7994585-G-A c.783+8C>T splice_region ABLIM2 1 82258 1.21569E-5 41129 0 NA
4-7994593-C-T p.Arg261Arg splice_region+synonymous ABLIM2 1 82340 1.21448E-5 41170 0 9.10051E-6
4-7994594-C-T p.Arg261Gln missense+splice_region ABLIM2 30 82314 3.64458E-4 41157 0 2.43505E-4
4-7994599-GT-G p.Asp259fs frameshift ABLIM2 9 82368 1.09266E-4 41184 1 NA
4-7994600-T-G p.Asp259Ala missense ABLIM2 1 82360 1.21418E-5 41180 0 NA
4-7994650-G-T p.Phe242Leu missense ABLIM2 1 82336 1.21454E-5 41168 0 3.18776E-5
4-7994659-A-AACAGAC c.722-6_722-5insGTCTGT splice_region ABLIM2 1 82270 1.21551E-5 41135 0 NA
4-7994661-C-T c.722-7G>A splice_region ABLIM2 2 82268 2.43108E-5 41134 0 NA
4-8000381-C-T c.1398-3G>A splice_region ABLIM2 2 51900 3.85356E-5 25950 0 1.49759E-5
4-8000382-G-A c.1398-4C>T splice_region ABLIM2 162 51884 0.00312235 25942 0 0.00443891
4-8007122-C-T c.1527+4G>A splice_region ABLIM2 1 55440 1.80375E-5 27720 0 6.36983E-5
4-8007125-C-T c.1527+1G>A splice_donor ABLIM2 1 55430 1.80408E-5 27715 0 NA
4-8007127-T-C p.Lys509Arg missense+splice_region ABLIM2 2 55424 3.60855E-5 27712 0 3.18492E-5
4-8007136-C-T c.1524-7G>A splice_region ABLIM2 3 55398 5.41536E-5 27699 0 3.1841E-5
4-8007137-G-A c.1524-8C>T splice_region ABLIM2 3 55386 5.41653E-5 27693 0 1.65407E-5
4-8008753-T-G c.*1016A>C splice_region ABLIM2 1 27270 3.66703E-5 13635 0 NA
4-8009773-A-G p.Phe470Ser missense ABLIM2 1 82510 1.21197E-5 41255 0 4.97282E-5
4-8009785-C-T c.721+1G>A splice_donor ABLIM2 2 82510 2.42395E-5 41255 0 4.01413E-6
4-8009786-G-A p.Arg241* stop_gained ABLIM2 1 82520 1.21183E-5 41260 0 NA
4-8009791-T-A p.His305Leu missense+splice_region ABLIM2 1 82516 1.21189E-5 41258 0 NA
4-8009804-C-T p.Gly501Arg missense ABLIM2 1 82530 1.21168E-5 41265 0 NA
4-8009823-G-T p.Asp494Glu missense ABLIM2 1 82534 1.21162E-5 41267 0 8.28116E-6
4-8009824-T-C p.Asp494Gly missense ABLIM2 3 82532 3.63495E-5 41266 0 NA
4-8009828-T-C p.Arg493Gly missense ABLIM2 2 82534 2.42324E-5 41267 0 3.1835E-5
4-8009829-G-A p.Asp492Asp synonymous ABLIM2 1 82532 1.21165E-5 41266 0 8.28061E-6
4-8009831-C-T p.Asp492Asn missense ABLIM2 6 82532 7.26991E-5 41266 0 0.00100705
4-8009832-G-A p.Thr491Thr synonymous ABLIM2 8 82530 9.69344E-5 41265 0 5.03525E-4
4-8009837-C-T p.Gly490Arg missense ABLIM2 1 82528 1.21171E-5 41264 0 6.36821E-5
4-8009838-G-A p.Ser489Ser synonymous ABLIM2 6 82536 7.26955E-5 41268 0 1.57332E-4
4-8009846-G-A p.His487Tyr missense ABLIM2 5 82536 6.05796E-5 41268 0 6.3678E-5
4-8009857-T-G p.Gln483Pro missense ABLIM2 1 82534 1.21162E-5 41267 0 NA
4-8009875-G-T p.Ser477Tyr missense ABLIM2 4 82534 4.84649E-5 41267 0 1.04303E-4
4-8009878-T-C p.Asn476Ser missense ABLIM2 1 82532 1.21165E-5 41266 0 4.41285E-5
4-8009878-T-A p.Asn476Ile missense ABLIM2 1 82532 1.21165E-5 41266 0 NA
4-8009887-G-GCGTTAGCACAC p.Thr473fs frameshift ABLIM2 1 82528 1.21171E-5 41264 0 NA
4-8009888-T-C p.Thr473Ala missense ABLIM2 3 82526 3.63522E-5 41263 0 6.36821E-5
4-8009922-C-T p.Lys460Lys splice_region+synonymous ABLIM2 1 82470 1.21256E-5 41235 0 6.3674E-5
4-8010781-C-T p.Arg458Lys missense ABLIM2 1 82586 1.21086E-5 41293 0 NA
4-8010809-C-T p.Glu449Lys missense ABLIM2 1 82652 1.20989E-5 41326 0 NA
4-8010816-C-T p.Ser446Ser synonymous ABLIM2 1 82632 1.21018E-5 41316 0 9.55353E-5
4-8010824-T-G p.Arg444Arg synonymous ABLIM2 178 82626 0.00215429 41313 0 0.00480861
4-8010824-T-C p.Arg444Gly missense ABLIM2 1 82634 1.21016E-5 41317 0 1.6561E-5
4-8010827-C-A p.Ala443Ser missense+splice_region ABLIM2 1 82620 1.21036E-5 41310 0 1.6561E-5
4-8021340-C-T c.1324+5G>A splice_region ABLIM2 3 82276 3.64626E-5 41138 0 3.32812E-5
4-8021341-G-A c.1324+4C>T splice_region ABLIM2 2 82294 2.43031E-5 41147 0 6.25E-4
4-8021349-C-T p.Gln440Gln synonymous ABLIM2 3 82334 3.6437E-5 41167 0 NA
4-8021351-G-C p.Gln440Glu missense ABLIM2 2 82334 2.42913E-5 41167 0 2.49563E-5
4-8021366-G-A p.Pro435Ser missense ABLIM2 1 82348 1.21436E-5 41174 0 8.31836E-6
4-8021370-C-T p.Arg433Arg synonymous ABLIM2 1 82356 1.21424E-5 41178 0 NA
4-8021376-G-A p.Ile431Ile synonymous ABLIM2 1 82356 1.21424E-5 41178 0 8.3185E-6
4-8021390-C-T p.Val427Ile missense ABLIM2 9 82324 1.09324E-4 41162 2 4.15953E-5
4-8021396-T-C p.Thr425Ala missense+splice_region ABLIM2 1 82278 1.21539E-5 41139 0 3.18593E-5
4-8021922-A-G c.1270+7T>C splice_region ABLIM2 1 81806 1.2224E-5 40903 0 6.37836E-5
4-8021930-T-A p.Pro423Pro splice_region+synonymous ABLIM2 1 82042 1.21889E-5 41021 0 NA
4-8021935-C-T p.Val422Ile missense ABLIM2 6 82098 7.30834E-5 41049 0 9.56084E-5
4-8021936-G-A p.His421His synonymous ABLIM2 2 82142 2.43481E-5 41071 0 5.22248E-5
4-8021946-C-A p.Arg418Leu missense ABLIM2 1 82234 1.21604E-5 41117 0 3.18939E-5
4-8021947-G-A p.Arg418Cys missense ABLIM2 3 82254 3.64724E-5 41127 0 3.63581E-5
4-8021950-G-A p.Pro417Ser missense ABLIM2 1 82286 1.21527E-5 41143 0 NA
4-8021966-G-A p.Ser411Ser synonymous ABLIM2 8 82330 9.71699E-5 41165 0 1.02733E-4
4-8021966-G-T p.Ser411Ser synonymous ABLIM2 1 82330 1.21462E-5 41165 0 4.03744E-6
4-8021970-G-T p.Pro410His missense ABLIM2 1 82344 1.21442E-5 41172 0 NA
4-8021972-G-A p.Pro409Pro synonymous ABLIM2 1 82356 1.21424E-5 41178 0 NA
4-8021973-G-A p.Pro409Leu missense ABLIM2 1 82366 1.21409E-5 41183 0 NA
4-8021976-G-A p.Pro408Leu missense ABLIM2 1 82368 1.21406E-5 41184 0 0.00151057
4-8021995-C-T p.Val402Met missense ABLIM2 1 82424 1.21324E-5 41212 0 3.45447E-5
4-8021996-G-A p.Ser401Ser synonymous ABLIM2 2 82452 2.42565E-5 41226 0 3.18532E-5
4-8022007-G-T p.Pro398Thr missense ABLIM2 2 82452 2.42565E-5 41226 0 1.75704E-5
4-8022009-G-A p.Thr397Ile missense ABLIM2 1 82436 1.21306E-5 41218 0 NA
4-8022014-C-G p.Arg395Arg synonymous ABLIM2 1 82426 1.21321E-5 41213 0 6.37064E-5
4-8022015-C-T p.Arg395Gln missense ABLIM2 2 82448 2.42577E-5 41224 0 4.45871E-5
4-8022016-G-A p.Arg395Trp missense ABLIM2 17 82442 2.06206E-4 41221 0 2.76455E-4
4-8022021-C-T p.Ser393Asn missense ABLIM2 4 82450 4.85143E-5 41225 0 3.24299E-5
4-8022038-C-T c.1169-8G>A splice_region ABLIM2 43 82438 5.21604E-4 41219 0 0.00124283
4-8029488-C-T p.Arg422Gln missense+splice_region ABLIM2 2 81938 2.44087E-5 40969 0 2.28628E-5
4-8029510-G-A p.His415Tyr missense ABLIM2 2 82116 2.43558E-5 41058 0 NA
4-8029517-C-A p.Val412Val synonymous ABLIM2 3 82142 3.65221E-5 41071 0 3.18634E-5
4-8029529-G-T p.Ser408Arg missense ABLIM2 1 82136 1.21749E-5 41068 0 4.23736E-6
4-8029529-G-A p.Ser408Ser synonymous ABLIM2 1 82136 1.21749E-5 41068 0 NA
4-8029546-G-A p.Leu403Leu synonymous ABLIM2 2 82118 2.43552E-5 41059 0 3.18552E-5
4-8029547-G-A p.Ser402Ser synonymous ABLIM2 1 82106 1.21794E-5 41053 0 3.18552E-5
4-8029574-C-G p.Val393Val synonymous ABLIM2 1 81908 1.22088E-5 40954 0 NA
4-8029587-A-G c.1169-3T>C splice_region ABLIM2 9 81736 1.10111E-4 40868 0 9.55414E-5
4-8029588-C-T c.1169-4G>A splice_region ABLIM2 16 81714 1.95805E-4 40857 1 1.85763E-4
4-8029589-G-A c.1169-5C>T splice_region ABLIM2 1 81718 1.22372E-5 40859 0 9.46235E-6
4-8029589-G-C c.1169-5C>G splice_region ABLIM2 1 81718 1.22372E-5 40859 0 NA
4-8031388-C-T p.Arg388His missense ABLIM2 8 81598 9.80416E-5 40799 0 1.45208E-4
4-8031394-T-C p.Tyr386Cys missense ABLIM2 5 81754 6.11591E-5 40877 0 1.92713E-5
4-8031409-C-G p.Arg381Pro missense ABLIM2 1 81864 1.22154E-5 40932 0 NA
4-8031411-T-C p.Ser380Ser synonymous ABLIM2 3 81856 3.66497E-5 40928 0 2.56888E-4
4-8031427-C-T p.Arg375His missense ABLIM2 5 81872 6.10709E-5 40936 0 0.00156576
4-8031431-C-T p.Gly374Arg missense ABLIM2 2 81830 2.44409E-5 40915 0 9.43841E-5
4-8031432-G-A p.Leu373Leu synonymous ABLIM2 5 81832 6.11008E-5 40916 0 3.19183E-5
4-8031441-C-T p.Ser370Ser synonymous ABLIM2 7 81760 8.56164E-5 40880 0 9.31446E-5
4-8031442-G-A p.Ser370Leu missense ABLIM2 4 81730 4.89416E-5 40865 1 9.27386E-5
4-8031444-C-T p.Gly369Gly synonymous ABLIM2 2 81722 2.44732E-5 40861 0 NA
4-8031449-T-C p.Thr368Ala missense ABLIM2 1 81692 1.22411E-5 40846 0 NA
4-8031453-G-A p.Ser366Ser synonymous ABLIM2 1 81668 1.22447E-5 40834 0 4.49075E-5
4-8031464-A-G p.Ser363Pro missense ABLIM2 1 81642 1.22486E-5 40821 0 3.1902E-5
4-8031469-C-T p.Arg361Gln missense ABLIM2 2 81640 2.44978E-5 40820 0 2.29405E-5
4-8031471-A-G p.Cys360Cys synonymous ABLIM2 58826 80904 0.727109 40452 21488 0.754426
4-8031486-C-T p.Arg355Arg synonymous ABLIM2 3 81632 3.67503E-5 40816 0 3.01568E-5
4-8031487-C-T p.Arg355Gln missense ABLIM2 3 81612 3.67593E-5 40806 0 3.19244E-5
4-8031488-G-A p.Arg355Trp missense ABLIM2 1 81614 1.22528E-5 40807 0 3.03159E-5
4-8031501-C-T p.Gly350Gly splice_region+synonymous ABLIM2 1 81598 1.22552E-5 40799 0 NA
4-8031508-G-A c.1048-5C>T splice_region ABLIM2 1 81578 1.22582E-5 40789 0 NA
4-8034377-C-T p.Glu117Lys missense+splice_region ABLIM2 1 81832 1.22202E-5 40916 0 2.53661E-5
4-8034378-G-T p.Thr116Thr synonymous ABLIM2 1 81820 1.2222E-5 40910 0 3.18979E-5
4-8034378-G-A p.Thr116Thr synonymous ABLIM2 1 81820 1.2222E-5 40910 0 3.18979E-5
4-8034381-C-T p.Pro115Pro synonymous ABLIM2 4 81814 4.88914E-5 40907 0 6.25E-4
4-8034384-C-T p.Thr114Thr synonymous ABLIM2 5 81810 6.11172E-5 40905 0 6.25E-4
4-8034385-G-A p.Thr114Met missense ABLIM2 3 81836 3.66587E-5 40918 0 3.18959E-5
4-8034390-C-T p.Ser112Ser synonymous ABLIM2 5 81854 6.10844E-5 40927 0 6.25E-4
4-8034391-G-A p.Ser112Leu missense ABLIM2 1 81864 1.22154E-5 40932 0 1.21338E-5
4-8037870-C-A c.1047+6G>T splice_region ABLIM2 5 82352 6.0715E-5 41176 0 6.25E-4
4-8037873-T-C c.1047+3A>G splice_region ABLIM2 1 82378 1.21392E-5 41189 0 NA
4-8037878-C-T p.Glu349Lys missense+splice_region ABLIM2 2 82408 2.42695E-5 41204 0 8.48306E-6
4-8037879-G-A p.Gly348Gly synonymous ABLIM2 3 82412 3.64025E-5 41206 0 3.18674E-4
4-8037881-C-T p.Gly348Ser missense ABLIM2 3 82442 3.63892E-5 41221 0 2.53203E-5
4-8037882-G-A p.Tyr347Tyr synonymous ABLIM2 2 82440 2.42601E-5 41220 0 3.3699E-5
4-8037883-T-C p.Tyr347Cys missense ABLIM2 1 82448 1.21289E-5 41224 0 NA
4-8037896-C-A p.Asp343Tyr missense ABLIM2 2 82490 2.42454E-5 41245 0 1.60756E-5
4-8037918-G-C p.Pro335Pro synonymous ABLIM2 2 82480 2.42483E-5 41240 0 NA
4-8037927-G-A p.Ser332Ser synonymous ABLIM2 1 82502 1.21209E-5 41251 0 8.30882E-6
4-8037938-C-T p.Asp329Asn missense ABLIM2 1 82512 1.21194E-5 41256 0 3.18817E-5
4-8037939-G-A p.Pro328Pro synonymous ABLIM2 1 82506 1.21203E-5 41253 0 2.80996E-5
4-8037943-C-T p.Arg327His missense ABLIM2 2 82508 2.42401E-5 41254 0 1.20441E-5
4-8037944-G-A p.Arg327Cys missense ABLIM2 12 82514 1.4543E-4 41257 0 2.54988E-4
4-8037947-C-T p.Asp326Asn missense ABLIM2 3 82500 3.63636E-5 41250 0 1.65934E-5
4-8037971-T-C p.Lys318Glu missense ABLIM2 1 82528 1.21171E-5 41264 0 3.19203E-5
4-8037979-G-C p.Ala315Gly missense ABLIM2 1 82516 1.21189E-5 41258 0 NA
4-8037993-G-A p.Tyr310Tyr synonymous ABLIM2 3 82494 3.63663E-5 41247 0 5.03525E-4
4-8037999-C-T p.Leu308Leu synonymous ABLIM2 1 82480 1.21242E-5 41240 0 NA
4-8038022-C-T p.Ala301Thr missense+splice_region ABLIM2 1 82360 1.21418E-5 41180 0 NA
4-8038027-G-A c.901-5C>T splice_region ABLIM2 1 82308 1.21495E-5 41154 0 NA
4-8038030-G-T c.901-8C>A splice_region ABLIM2 1 82280 1.21536E-5 41140 0 8.3856E-6
4-8043075-A-G n.87+2T>C splice_donor ABLIM2 1 16 0.0625 8 0 0.124155
4-8046896-T-C p.Ile299Val missense ABLIM2 1 82244 1.21589E-5 41122 0 8.02291E-6
4-8046901-C-T p.Arg297His missense ABLIM2 4 82310 4.85968E-5 41155 0 9.10913E-5
4-8046902-G-A p.Arg297Cys missense ABLIM2 1 82302 1.21504E-5 41151 0 3.6102E-5
4-8046906-C-T p.Pro295Pro synonymous ABLIM2 3 82320 3.64431E-5 41160 0 6.36943E-5
4-8046907-G-A p.Pro295Leu missense ABLIM2 4 82336 4.85814E-5 41168 0 7.45292E-5
4-8046913-C-A p.Gly293Val missense ABLIM2 6 82384 7.28297E-5 41192 0 9.55414E-5
4-8046919-G-A p.Thr291Ile missense ABLIM2 2 82396 2.4273E-5 41198 0 3.18451E-5
4-8046921-G-A p.Ser290Ser synonymous ABLIM2 2 82398 2.42724E-5 41199 0 NA
4-8046933-G-C p.Val286Val synonymous ABLIM2 2 82398 2.42724E-5 41199 0 NA
4-8046941-T-C p.Ile284Val missense ABLIM2 7 82326 8.50278E-5 41163 0 3.18715E-5
4-8046945-G-C p.Ser282Arg missense ABLIM2 1 82348 1.21436E-5 41174 0 1.65607E-5
4-8046962-T-C p.Arg277Gly missense ABLIM2 1 82304 1.21501E-5 41152 0 6.36983E-5
4-8055907-C-T c.822+8G>A splice_region ABLIM2 26 82252 3.16102E-4 41126 0 8.27709E-4
4-8055930-A-G p.Thr269Thr synonymous ABLIM2 1 82410 1.21345E-5 41205 0 NA
4-8055940-G-C p.Ala266Gly missense ABLIM2 1 82438 1.21303E-5 41219 0 NA
4-8055944-G-C p.Gln265Glu missense ABLIM2 5 82444 6.06472E-5 41222 0 3.1835E-5
4-8055946-C-T p.Arg264Gln missense ABLIM2 2 82428 2.42636E-5 41214 0 5.80527E-5
4-8055952-G-A p.Ala262Val missense ABLIM2 2 82432 2.42624E-5 41216 0 1.65945E-5
4-8055954-C-T p.Pro261Pro synonymous ABLIM2 2 82432 2.42624E-5 41216 0 9.95917E-5
4-8055955-G-A p.Pro261Leu missense ABLIM2 3 82430 3.63945E-5 41215 0 3.32016E-5
4-8055963-G-C p.Ile258Met missense ABLIM2 68 82434 8.24902E-4 41217 0 6.17814E-4
4-8055966-G-T p.Ser257Ser synonymous ABLIM2 1 82414 1.21339E-5 41207 0 8.3102E-6
4-8055966-G-A p.Ser257Ser synonymous ABLIM2 2 82414 2.42677E-5 41207 0 NA
4-8062689-TG-CA c.763+4_763+5delCAinsTG splice_region ABLIM2 25983 81552 0.318607 40776 9341 NA
4-8062689-T-C c.763+5A>G splice_region ABLIM2 42440 81694 0.5195 40847 19674 0.898125
4-8062690-G-A c.763+4C>T splice_region ABLIM2 24693 81914 0.30145 40957 6592 0.7
4-8062704-C-T p.Met251Ile missense ABLIM2 2 82580 2.42189E-5 41290 0 5.34893E-5
4-8062706-T-C p.Met251Val missense ABLIM2 1 82586 1.21086E-5 41293 0 1.7774E-5
4-8062712-C-T p.Glu249Lys missense ABLIM2 4 82628 4.84097E-5 41314 0 0.00151057
4-8062713-G-A p.Gly248Gly synonymous ABLIM2 1 82638 1.2101E-5 41319 0 6.25E-4
4-8062725-C-T p.Met1? start_lost ABLIM2 1 82698 1.20922E-5 41349 0 3.54648E-5
4-8062726-A-G p.Met1? start_lost ABLIM2 1 82686 1.20939E-5 41343 0 NA
4-8062732-C-T p.Gly242Asp missense ABLIM2 5 82714 6.04493E-5 41357 0 3.56468E-5
4-8062733-C-T p.Gly242Ser missense ABLIM2 3 82708 3.62722E-5 41354 0 1.24537E-4
4-8062734-G-A p.Cys241Cys synonymous ABLIM2 4 82704 4.83653E-5 41352 0 1.7642E-5
4-8062749-C-T p.Ala236Ala synonymous ABLIM2 5 82692 6.04653E-5 41346 0 1.48082E-4
4-8062750-G-A p.Ala236Val missense ABLIM2 6 82692 7.25584E-5 41346 0 NA
4-8062751-C-T p.Ala236Thr missense ABLIM2 3 82694 3.62783E-5 41347 0 5.59764E-5
4-8062766-A-G p.Tyr231His missense ABLIM2 1 82684 1.20942E-5 41342 0 2.02503E-5
4-8062768-T-G p.His230Pro missense ABLIM2 2 82684 2.41885E-5 41342 0 NA
4-8062778-C-T p.Gly227Arg missense ABLIM2 6 82604 7.26357E-5 41302 0 4.39337E-5
4-8062779-G-A c.-52C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 29 82592 3.51124E-4 41296 0 0.00105142
4-8062784-G-A c.676-3C>T splice_region ABLIM2 1 82564 1.21118E-5 41282 0 NA
4-8073488-T-C c.-55+8A>G splice_region ABLIM2 3 24254 1.23691E-4 12127 0 NA
4-8073495-C-T c.-55+1G>A splice_donor ABLIM2 1 24254 4.12303E-5 12127 0 NA
4-8073531-G-A c.-90C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 7 24260 2.88541E-4 12130 0 3.1957E-4
4-8073562-G-A c.-121C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 24270 8.24063E-5 12135 0 2.55183E-4
4-8073650-G-A c.-209C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 4 24278 1.64758E-4 12139 0 6.3861E-5
4-8073656-C-A c.-215G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 24276 4.11929E-5 12138 0 NA
4-8073658-G-A c.-217C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 24280 8.23723E-5 12140 0 4.7856E-4
4-8073664-C-G c.-223G>C 5_prime_UTR_premature_start_codon_gain ABLIM2 2 24282 8.23655E-5 12141 0 6.37999E-5
4-8073676-T-A c.-235A>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 24278 4.11896E-5 12139 0 3.19101E-5
4-8073696-G-A c.-255C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 232 24268 0.00955991 12134 12 0.0261697
4-8073699-G-A c.-258C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 24276 4.11929E-5 12138 0 9.56938E-5
4-8079347-G-A c.675+8C>T splice_region ABLIM2 4 81910 4.88341E-5 40955 0 3.24528E-5
4-8079348-C-T c.675+7G>A splice_region ABLIM2 5 81942 6.10188E-5 40971 0 2.12451E-5
4-8079349-G-A c.675+6C>T splice_region ABLIM2 1 81994 1.2196E-5 40997 0 NA
4-8079349-G-T c.675+6C>A splice_region ABLIM2 1 81994 1.2196E-5 40997 0 NA
4-8079362-A-T p.Val223Glu missense ABLIM2 2 82214 2.43268E-5 41107 0 3.18552E-5
4-8079363-C-T p.Val223Met missense ABLIM2 11 82222 1.33784E-4 41111 0 1.4746E-4
4-8079364-G-A p.Arg222Arg synonymous ABLIM2 3 82214 3.64901E-5 41107 0 3.63777E-5
4-8079366-G-T p.Arg222Ser missense ABLIM2 1 82242 1.21592E-5 41121 0 NA
4-8079370-C-T p.Thr220Thr synonymous ABLIM2 2 82304 2.43002E-5 41152 0 3.18552E-5
4-8079371-G-A p.Thr220Met missense ABLIM2 9 82306 1.09348E-4 41153 0 9.55475E-5
4-8079375-T-C p.Ile219Val missense ABLIM2 2 82328 2.42931E-5 41164 0 NA
4-8079377-T-C p.Tyr218Cys missense ABLIM2 1 82336 1.21454E-5 41168 0 2.10447E-5
4-8079385-A-G p.Cys215Cys synonymous ABLIM2 40 82384 4.85531E-4 41192 0 6.25E-4
4-8079385-A-T p.Cys215* stop_gained ABLIM2 1 82384 1.21383E-5 41192 0 NA
4-8079386-C-T p.Cys215Tyr missense ABLIM2 1 82390 1.21374E-5 41195 0 NA
4-8079398-C-T p.Arg211His missense ABLIM2 2 82400 2.42718E-5 41200 0 6.36983E-5
4-8079399-G-A p.Arg211Cys missense ABLIM2 3 82420 3.63989E-5 41210 0 6.88556E-5
4-8079406-G-A c.-106C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 23 82404 2.79113E-4 41202 0 0.00151057
4-8079414-C-T p.Ala206Thr missense ABLIM2 5 82392 6.06855E-5 41196 0 5.03525E-4
4-8079415-G-A c.-115C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 82400 2.42718E-5 41200 0 3.1835E-5
4-8079429-C-T p.Glu201Lys missense ABLIM2 4 82384 4.85531E-5 41192 0 3.04112E-5
4-8079430-G-A p.Cys200Cys synonymous ABLIM2 179 82378 0.00217291 41189 1 0.0025
4-8079434-T-C p.Tyr199Cys missense ABLIM2 1 82372 1.214E-5 41186 0 NA
4-8079436-G-A p.Pro198Pro synonymous ABLIM2 5 82376 6.06973E-5 41188 0 3.66169E-5
4-8079440-A-T p.Leu197Gln missense ABLIM2 1 82354 1.21427E-5 41177 0 1.2738E-4
4-8079447-C-T p.Asp195Asn missense+splice_region ABLIM2 1 82344 1.21442E-5 41172 0 1.06993E-5
4-8079455-T-C c.582-7A>G splice_region ABLIM2 5 82294 6.07578E-5 41147 0 1.59256E-4
4-8079456-G-A c.582-8C>T splice_region ABLIM2 49 82290 5.95455E-4 41145 0 9.55231E-4
4-8082395-C-T c.581+8G>A splice_region ABLIM2 1 82192 1.21666E-5 41096 0 4.21251E-6
4-8082396-C-A c.581+7G>T splice_region ABLIM2 30 82198 3.64972E-4 41099 0 0.00125
4-8082396-C-G c.581+7G>C splice_region ABLIM2 3 82198 3.64972E-5 41099 0 4.02512E-5
4-8082404-T-G p.Lys194Gln missense+splice_region ABLIM2 1 82256 1.21572E-5 41128 0 3.18796E-5
4-8082409-A-T p.Ile192Asn missense ABLIM2 1 82314 1.21486E-5 41157 0 3.18776E-5
4-8082416-C-T p.Glu190Lys missense ABLIM2 4 82374 4.8559E-5 41187 0 4.07345E-5
4-8082417-G-A c.-163C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 7 82372 8.49803E-5 41186 0 6.37186E-5
4-8082433-C-T p.Gly184Glu missense ABLIM2 1 82422 1.21327E-5 41211 0 NA
4-8082446-A-G p.Cys180Arg missense ABLIM2 1 82458 1.21274E-5 41229 0 NA
4-8082457-C-T p.Gly176Asp missense ABLIM2 1 82482 1.21239E-5 41241 0 NA
4-8082472-T-C p.Lys171Arg missense ABLIM2 104 82476 0.00126097 41238 0 7.96483E-4
4-8082476-C-T p.Asp170Asn missense ABLIM2 1 82480 1.21242E-5 41240 0 NA
4-8082477-C-T p.Leu169Leu synonymous ABLIM2 1 82478 1.21244E-5 41239 0 3.33862E-5
4-8082477-C-G p.Leu169Phe missense ABLIM2 1 82478 1.21244E-5 41239 0 NA
4-8082486-C-A c.-232G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 3 82464 3.63795E-5 41232 0 5.03525E-4
4-8082495-G-A p.Gly163Gly synonymous ABLIM2 1 82460 1.21271E-5 41230 0 8.32945E-6
4-8082497-C-T p.Gly163Ser missense ABLIM2 3 82466 3.63786E-5 41233 0 3.18451E-5
4-8082498-A-C p.Asn162Lys missense ABLIM2 1 82470 1.21256E-5 41235 0 NA
4-8082515-C-T p.Gly157Ser missense ABLIM2 1 82414 1.21339E-5 41207 0 5.03525E-4
4-8082520-C-T p.Gly155Asp missense ABLIM2 2 82394 2.42736E-5 41197 0 8.41524E-6
4-8082536-G-C c.455-7C>G splice_region ABLIM2 15 82296 1.82269E-4 41148 0 6.28931E-4
4-8089891-C-T c.454+5G>A splice_region ABLIM2 2 80914 2.47176E-5 40457 0 NA
4-8089896-T-C p.Ser152Gly missense+splice_region ABLIM2 10 81106 1.23295E-4 40553 0 5.04541E-4
4-8089898-C-T p.Arg151Gln missense+splice_region ABLIM2 26 81180 3.20276E-4 40590 0 2.29683E-4
4-8089913-A-G p.Leu146Pro missense ABLIM2 1 81698 1.22402E-5 40849 0 NA
4-8089916-T-G p.His145Pro missense ABLIM2 2 81716 2.4475E-5 40858 0 9.74976E-5
4-8089918-C-T p.Ala144Ala synonymous ABLIM2 20 81746 2.4466E-4 40873 0 0.00100806
4-8089919-G-A p.Ala144Val missense ABLIM2 2 81776 2.44571E-5 40888 0 3.23146E-5
4-8089920-C-T p.Ala144Thr missense ABLIM2 1 81786 1.2227E-5 40893 0 1.28675E-4
4-8089921-G-A p.Ser143Ser synonymous ABLIM2 6 81810 7.33407E-5 40905 0 1.24677E-4
4-8089932-C-T p.Val140Met missense ABLIM2 65 81966 7.93012E-4 40983 1 0.001875
4-8089933-C-T p.Ser139Ser synonymous ABLIM2 2 81970 2.43992E-5 40985 0 3.20574E-5
4-8089934-G-A p.Ser139Leu missense ABLIM2 1 81984 1.21975E-5 40992 0 1.6114E-5
4-8089938-C-T p.Val138Ile missense ABLIM2 8 81992 9.75705E-5 40996 0 5.04032E-4
4-8089962-T-C p.Met130Val missense ABLIM2 1 81988 1.21969E-5 40994 0 8.53184E-6
4-8089974-C-T p.Gly126Arg missense ABLIM2 3 81826 3.66632E-5 40913 0 1.71371E-5
4-8089976-T-C p.Asn125Ser missense ABLIM2 1 81794 1.22258E-5 40897 0 2.57061E-5
4-8089983-T-A p.Thr123Ser missense ABLIM2 1 81644 1.22483E-5 40822 0 3.94872E-4
4-8089988-C-T p.Arg121Gln missense ABLIM2 10 81406 1.22841E-4 40703 0 1.38651E-4
4-8089989-G-A p.Arg121* stop_gained ABLIM2 1 81362 1.22908E-5 40681 0 NA
4-8089993-C-T p.Gly119Gly synonymous ABLIM2 2 81272 2.46087E-5 40636 0 8.70474E-6
4-8089995-C-T p.Gly119Arg missense ABLIM2 2 81166 2.46409E-5 40583 0 3.20431E-5
4-8089995-C-CG p.Gly119fs frameshift ABLIM2 2 81158 2.46433E-5 40579 0 2.55642E-4
4-8089996-G-A c.-376C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 3 81144 3.69713E-5 40572 0 6.41149E-5
4-8089998-G-C p.Pro118Ala missense ABLIM2 4 81148 4.92927E-5 40574 0 5.04032E-4
4-8089998-G-T p.Pro118Thr missense ABLIM2 1 81148 1.23232E-5 40574 0 1.75806E-5
4-8090002-G-A p.Phe116Phe synonymous ABLIM2 1 80960 1.23518E-5 40480 0 3.19611E-5
4-8090005-G-A p.Pro115Pro synonymous ABLIM2 1 80762 1.23821E-5 40381 0 8.96523E-6
4-8098832-A-C p.Val111Gly missense ABLIM2 6 80048 7.4955E-5 40024 0 2.86935E-4
4-8098833-C-T p.Val111Ile missense ABLIM2 7 80146 8.73406E-5 40073 0 1.27575E-4
4-8098834-G-A c.-400C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 80152 2.49526E-5 40076 0 4.31993E-5
4-8098851-C-T p.Asp105Asn missense ABLIM2 3 80686 3.71812E-5 40343 0 6.37755E-5
4-8098851-C-A p.Asp105Tyr missense ABLIM2 2 80686 2.47874E-5 40343 0 3.18878E-5
4-8098859-T-G p.Tyr102Ser missense ABLIM2 1 80662 1.23974E-5 40331 0 NA
4-8098870-C-A c.-436G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 78 81306 9.59339E-4 40653 0 0.00151057
4-8098874-G-A p.Ala97Val missense ABLIM2 3 81286 3.69067E-5 40643 0 6.37308E-5
4-8098877-G-A p.Ser96Leu missense ABLIM2 6 81328 7.37753E-5 40664 0 5.36171E-5
4-8098893-C-T p.Glu91Lys missense ABLIM2 2 81622 2.45032E-5 40811 0 NA
4-8098905-C-T p.Asp87Asn missense ABLIM2 1 81596 1.22555E-5 40798 0 1.70579E-5
4-8098906-G-A p.Cys86Cys synonymous ABLIM2 2 81584 2.45146E-5 40792 0 3.09272E-5
4-8098914-A-C p.Phe84Val missense ABLIM2 2 81666 2.449E-5 40833 0 NA
4-8098919-C-T p.Arg82His missense ABLIM2 6 81590 7.35384E-5 40795 0 7.04498E-5
4-8098924-G-A p.Gly80Gly synonymous ABLIM2 2 81556 2.4523E-5 40778 0 6.37024E-5
4-8098926-C-T p.Gly80Ser missense ABLIM2 12 81572 1.47109E-4 40786 0 1.27405E-4
4-8098927-G-A c.-493C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 42 81560 5.14958E-4 40780 0 2.95811E-4
4-8098928-T-A p.Tyr79Phe missense ABLIM2 1 81526 1.2266E-5 40763 0 1.98035E-5
4-8098942-G-C p.Asp74Glu missense ABLIM2 2 81490 2.45429E-5 40745 0 9.94926E-6
4-8098948-C-A p.Thr72Thr synonymous ABLIM2 1 81382 1.22877E-5 40691 0 0.00152594
4-8098948-C-T p.Thr72Thr synonymous ABLIM2 1 81382 1.22877E-5 40691 0 3.18552E-5
4-8098950-T-C p.Thr72Ala missense ABLIM2 3 81348 3.68786E-5 40674 0 3.18613E-5
4-8098955-A-G p.Ile70Thr missense ABLIM2 11 81306 1.35291E-4 40653 0 1.3389E-4
4-8098957-G-A p.Tyr69Tyr synonymous ABLIM2 1 81286 1.23022E-5 40643 0 1.04861E-5
4-8098962-C-T p.Glu68Lys missense ABLIM2 6 81178 7.39117E-5 40589 0 0.00406091
4-8098963-G-C p.Gly67Gly synonymous ABLIM2 1 81118 1.23277E-5 40559 0 NA
4-8098963-G-A p.Gly67Gly synonymous ABLIM2 1 81120 1.23274E-5 40560 0 8.88889E-5
4-8098970-C-T p.Arg65Gln missense ABLIM2 1 81042 1.23393E-5 40521 0 9.29426E-5
4-8098971-G-A p.Arg65Trp missense ABLIM2 7 81026 8.6392E-5 40513 0 1.27992E-4
4-8098971-G-T p.Arg65Arg synonymous ABLIM2 1 81026 1.23417E-5 40513 0 0.00152594
4-8098974-C-T p.Val64Met missense ABLIM2 1 81030 1.23411E-5 40515 0 3.24591E-5
4-8098975-G-A c.-541C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 18 81012 2.22189E-4 40506 0 0.00355691
4-8098984-G-A p.Gly60Gly synonymous ABLIM2 6 80646 7.43992E-5 40323 0 5.10204E-4
4-8098986-C-T p.Gly60Ser missense ABLIM2 1 80694 1.23925E-5 40347 0 NA
4-8098990-G-A c.-556C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 80492 1.24236E-5 40246 0 3.75912E-5
4-8098994-A-G p.Leu57Pro missense ABLIM2 4 80364 4.97735E-5 40182 0 NA
4-8099007-A-G p.Cys53Arg missense+splice_region ABLIM2 2 80102 2.49682E-5 40051 0 4.20875E-5
4-8099008-T-A c.-574A>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 80080 1.24875E-5 40040 0 NA
4-8099011-TG-T c.155-3delC splice_region ABLIM2 1 79896 1.25163E-5 39948 0 1.2332E-5
4-8099016-G-A c.155-7C>T splice_region ABLIM2 1 79736 1.25414E-5 39868 0 NA
4-8108221-C-T p.Ala52Thr missense+splice_region ABLIM2 8 81554 9.80945E-5 40777 0 3.59777E-4
4-8108230-C-T p.Val49Ile missense ABLIM2 10 81678 1.22432E-4 40839 0 0.00201613
4-8108230-C-G p.Val49Leu missense ABLIM2 1 81678 1.22432E-5 40839 0 2.12657E-5
4-8108231-G-A c.-586C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 81680 2.44858E-5 40840 0 4.21372E-5
4-8108239-T-C p.Lys46Glu missense ABLIM2 1 81778 1.22282E-5 40889 0 NA
4-8108253-T-C p.Lys41Arg missense ABLIM2 2 81792 2.44523E-5 40896 0 1.10068E-4
4-8108265-C-T p.Arg37Gln missense ABLIM2 3 81834 3.66596E-5 40917 0 3.38799E-5
4-8108266-G-A p.Arg37Trp missense ABLIM2 2 81814 2.44457E-5 40907 0 3.34907E-5
4-8108275-C-T p.Glu34Lys missense ABLIM2 1 81864 1.22154E-5 40932 0 3.84958E-5
4-8108276-G-A p.Gly33Gly synonymous ABLIM2 8 81854 9.7735E-5 40927 0 1.20798E-4
4-8108282-G-A p.Cys31Cys synonymous ABLIM2 1 81902 1.22097E-5 40951 0 NA
4-8108291-C-A p.Gly28Gly synonymous ABLIM2 1 81926 1.22061E-5 40963 0 0.00252016
4-8108297-C-T c.-652G>A 5_prime_UTR_premature_start_codon_gain ABLIM2 3 81912 3.66247E-5 40956 0 5.69194E-4
4-8108298-G-A p.Thr26Met missense ABLIM2 1 81886 1.22121E-5 40943 0 3.1841E-5
4-8108313-G-A p.Ala21Val missense ABLIM2 3 81844 3.66551E-5 40922 0 3.18492E-5
4-8108315-C-T p.Thr20Thr synonymous ABLIM2 7997 81782 0.0977844 40891 490 0.14875
4-8108316-G-A p.Thr20Met missense ABLIM2 16 81886 1.95394E-4 40943 0 0.00100806
4-8108324-C-T p.Ser17Ser synonymous ABLIM2 4 81828 4.8883E-5 40914 0 4.08891E-6
4-8108324-C-A p.Ser17Ser synonymous ABLIM2 2 81828 2.44415E-5 40914 0 NA
4-8108325-G-A p.Ser17Leu missense ABLIM2 1 81842 1.22187E-5 40921 0 6.98394E-5
4-8108336-C-A p.Pro13Pro synonymous ABLIM2 1 81848 1.22178E-5 40924 0 NA
4-8108336-C-T p.Pro13Pro synonymous ABLIM2 4 81848 4.88711E-5 40924 0 0.00100705
4-8108337-G-A p.Pro13Leu missense ABLIM2 5 81848 6.10888E-5 40924 0 9.71685E-5
4-8108337-G-C p.Pro13Arg missense ABLIM2 2 81846 2.44361E-5 40923 0 3.88674E-5
4-8108341-T-C p.Ser12Gly missense ABLIM2 3 81834 3.66596E-5 40917 0 5.79688E-5
4-8108343-G-A p.Pro11Leu missense ABLIM2 1 81826 1.22211E-5 40913 0 3.18471E-5
4-8108344-G-C p.Pro11Ala missense ABLIM2 2 81804 2.44487E-5 40902 0 4.08767E-6
4-8108348-A-C p.Ala9Ala synonymous ABLIM2 1 81776 1.22285E-5 40888 0 9.65978E-6
4-8108360-C-T p.Ser5Ser synonymous ABLIM2 12 81600 1.47059E-4 40800 0 0.00151057
4-8108361-G-A p.Ser5Leu missense ABLIM2 1 81630 1.22504E-5 40815 0 2.91104E-5
4-8108368-T-C c.11-4A>G splice_region ABLIM2 4 81502 4.90785E-5 40751 0 3.18634E-5
4-8108372-G-A c.11-8C>T splice_region ABLIM2 61 81352 7.49828E-4 40676 0 5.41298E-4
4-8160400-C-T c.10+7G>A splice_region ABLIM2 1 60680 1.64799E-5 30340 0 NA
4-8160403-C-G c.10+4G>C splice_region ABLIM2 1 60632 1.64929E-5 30316 0 NA
4-8160405-A-T c.10+2T>A splice_donor ABLIM2 1 59968 1.66756E-5 29984 0 NA
4-8160447-G-A c.-31C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 3 50312 5.96279E-5 25156 0 1.50503E-5
4-8160455-G-A c.-39C>T 5_prime_UTR_premature_start_codon_gain ABLIM2 2 48126 4.15576E-5 24063 0 1.29744E-4
4-8160490-C-A c.-74G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 37526 2.66482E-5 18763 0 NA
4-8160525-C-A c.-109G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 4 28610 1.39811E-4 14305 0 1.68373E-4
4-8160540-C-A c.-124G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 25212 3.96637E-5 12606 0 8.05153E-4
4-8160553-C-A c.-137G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 10 21788 4.58968E-4 10894 0 0.00194853
4-8160556-C-A c.-140G>T 5_prime_UTR_premature_start_codon_gain ABLIM2 1 21156 4.72679E-5 10578 0 NA