Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-39947719-A-G p.Ser740Pro missense ABCD2 2 82606 2.42113E-5 41303 0 4.12667E-6
12-39947728-C-T p.Asp737Asn missense ABCD2 3 82692 3.62792E-5 41346 0 6.51991E-5
12-39947729-T-G p.Glu736Asp missense ABCD2 1 82698 1.20922E-5 41349 0 4.06336E-6
12-39947737-T-A p.Lys734* stop_gained ABCD2 2 82748 2.41698E-5 41374 0 NA
12-39947738-A-G p.Ile733Ile synonymous ABCD2 4 82746 4.83407E-5 41373 0 3.18634E-5
12-39947749-G-T p.Leu730Met missense ABCD2 1 82812 1.20755E-5 41406 0 4.00702E-6
12-39947750-C-T p.Val729Val synonymous ABCD2 1 82816 1.2075E-5 41408 0 NA
12-39947752-C-T p.Val729Met missense ABCD2 1 82826 1.20735E-5 41413 0 NA
12-39947763-C-T p.Gly725Glu missense ABCD2 1 82854 1.20694E-5 41427 0 3.99725E-6
12-39947769-A-G p.Ile723Thr missense ABCD2 1 82866 1.20677E-5 41433 0 NA
12-39947774-A-G p.Cys721Cys synonymous ABCD2 1 82872 1.20668E-5 41436 0 NA
12-39947780-T-TTAA p.Glu719delinsAspTer stop_gained ABCD2 1 82880 1.20656E-5 41440 0 NA
12-39947797-G-T p.Gln714Lys missense ABCD2 2 82890 2.41284E-5 41445 0 8.3478E-6
12-39947831-C-G p.Lys702Asn missense ABCD2 1 82918 1.20601E-5 41459 0 NA
12-39947835-T-G p.Gln701Pro missense ABCD2 1 82918 1.20601E-5 41459 0 NA
12-39947842-C-G p.Glu699Gln missense ABCD2 3 82910 3.61838E-5 41455 0 2.39183E-5
12-39947845-C-A p.Glu698* stop_gained ABCD2 3 82904 3.61864E-5 41452 0 3.30535E-5
12-39947858-A-G p.Arg693Arg synonymous ABCD2 2 82904 2.41243E-5 41452 0 NA
12-39947859-C-T p.Arg693His missense ABCD2 26 82904 3.13616E-4 41452 0 2.54907E-4
12-39947860-G-A p.Arg693Cys missense ABCD2 1 82896 1.20633E-5 41448 0 3.30284E-5
12-39947863-T-C p.Ile692Val missense ABCD2 1 82898 1.2063E-5 41449 0 8.25668E-6
12-39947871-T-A p.Asp689Val missense ABCD2 1 82866 1.20677E-5 41433 0 NA
12-39947885-G-A p.Arg684Arg synonymous ABCD2 200 82738 0.00241727 41369 0 0.0043032
12-39947886-C-T p.Arg684His missense ABCD2 17 82744 2.05453E-4 41372 0 1.91229E-4
12-39947887-G-A p.Arg684Cys missense ABCD2 6 82726 7.25286E-5 41363 0 3.30387E-5
12-39947903-A-G p.Asp678Asp synonymous ABCD2 1 82510 1.21197E-5 41255 0 NA
12-39947924-G-A p.His671His synonymous ABCD2 2 82114 2.43564E-5 41057 0 8.04874E-6
12-39947927-G-T p.Tyr670* stop_gained ABCD2 1 82022 1.21919E-5 41011 0 NA
12-39947930-T-G p.Lys669Asn missense ABCD2 1 81966 1.22002E-5 40983 0 8.34599E-6
12-39967510-A-G c.2003+8T>C splice_region ABCD2 4 83006 4.81893E-5 41503 0 6.1046E-4
12-39967540-T-TTTGAATTATCATC p.Ile661fs frameshift ABCD2 1 83254 1.20114E-5 41627 0 NA
12-39967560-GCCCCTTTTGCAGCC-G p.Gln649fs frameshift ABCD2 1 83262 1.20103E-5 41631 0 NA
12-39967560-G-A p.Ala654Val missense ABCD2 1 83262 1.20103E-5 41631 0 NA
12-39967564-C-CT p.Gly653fs frameshift ABCD2 1 83258 1.20109E-5 41629 0 NA
12-39967570-C-A p.Ala651Ser missense ABCD2 1 83260 1.20106E-5 41630 0 NA
12-39967572-G-A p.Ala650Val missense ABCD2 3 83254 3.60343E-5 41627 0 NA
12-39967573-C-T p.Ala650Thr missense ABCD2 1 83248 1.20123E-5 41624 0 8.2409E-6
12-39967592-G-A p.Val643Val synonymous ABCD2 7 83238 8.40962E-5 41619 0 2.86825E-4
12-39967601-G-A p.Ser640Ser synonymous ABCD2 2 83234 2.40286E-5 41617 0 NA
12-39967627-G-A p.Leu632Leu synonymous ABCD2 2 83174 2.4046E-5 41587 0 NA
12-39967633-C-A p.Ala630Ser missense ABCD2 1 83148 1.20267E-5 41574 0 NA
12-39967634-A-G p.Tyr629Tyr synonymous ABCD2 29 83146 3.48784E-4 41573 0 4.8443E-5
12-39967636-A-G p.Tyr629His missense ABCD2 1 83144 1.20273E-5 41572 0 NA
12-39967647-T-C c.1878-4A>G splice_region ABCD2 1 83026 1.20444E-5 41513 0 NA
12-39973338-T-C p.Lys626Glu missense+splice_region ABCD2 1 82966 1.20531E-5 41483 0 NA
12-39973339-A-G p.His625His splice_region+synonymous ABCD2 1 82964 1.20534E-5 41482 0 3.18492E-5
12-39973344-A-G p.Tyr624His missense ABCD2 1 83072 1.20378E-5 41536 0 NA
12-39973359-T-C p.Met619Val missense ABCD2 1 83178 1.20224E-5 41589 0 NA
12-39973387-C-G p.Leu609Leu synonymous ABCD2 1 83194 1.20201E-5 41597 0 NA
12-39973390-G-T p.Val608Val synonymous ABCD2 7 83194 8.41407E-5 41597 0 6.37999E-5
12-39973390-G-A p.Val608Val synonymous ABCD2 2 83194 2.40402E-5 41597 0 8.24035E-6
12-39973393-A-G p.Asp607Asp synonymous ABCD2 1 83176 1.20227E-5 41588 0 NA
12-39973395-C-T p.Asp607Asn missense ABCD2 96 83172 0.00115423 41586 0 0.00108329
12-39973404-C-T p.Asp604Asn missense ABCD2 1 83130 1.20294E-5 41565 0 8.24389E-6
12-39973410-C-G p.Val602Leu missense ABCD2 1 83108 1.20325E-5 41554 0 1.19702E-5
12-39973410-C-T p.Val602Ile missense ABCD2 1 83108 1.20325E-5 41554 0 NA
12-39973412-G-A p.Ala601Val missense ABCD2 7 82952 8.43861E-5 41476 0 1.19853E-5
12-39973413-C-T p.Ala601Thr missense ABCD2 1 82934 1.20578E-5 41467 0 4.00195E-6
12-39979946-G-A c.1792+8C>T splice_region ABCD2 2 82836 2.41441E-5 41418 0 2.51957E-5
12-39979971-A-T p.Ile592Lys missense ABCD2 27 83046 3.25121E-4 41523 1 5.24651E-4
12-39979972-T-C p.Ile592Val missense ABCD2 2 83042 2.40842E-5 41521 0 NA
12-39979976-A-G p.Tyr590Tyr synonymous ABCD2 2 83042 2.40842E-5 41521 0 8.26651E-6
12-39979977-T-C p.Tyr590Cys missense ABCD2 1 83046 1.20415E-5 41523 0 3.1841E-5
12-39979981-G-T p.Leu589Ile missense ABCD2 1 83062 1.20392E-5 41531 0 1.19892E-5
12-39979999-T-A p.Ile583Phe missense ABCD2 1 83110 1.20322E-5 41555 0 8.25178E-6
12-39980001-C-T p.Arg582His missense ABCD2 23 83106 2.76755E-4 41553 0 8.91833E-4
12-39980002-G-A p.Arg582Cys missense ABCD2 8 83116 9.6251E-5 41558 0 2.432E-4
12-39980026-C-T p.Gly574Ser missense ABCD2 4 83156 4.81024E-5 41578 0 6.77404E-5
12-39980040-T-C p.Asp569Gly missense ABCD2 1 83184 1.20215E-5 41592 0 NA
12-39980055-G-C p.Pro564Arg missense ABCD2 1 83198 1.20195E-5 41599 0 3.98657E-6
12-39980059-A-G p.Tyr563His missense ABCD2 1 83200 1.20192E-5 41600 0 8.25423E-6
12-39980063-G-T p.Val561Val synonymous ABCD2 104 83220 0.0012497 41610 0 0.00245285
12-39980073-C-T p.Arg558Gln missense ABCD2 1 83214 1.20172E-5 41607 0 8.27815E-6
12-39980087-A-G p.Ser553Ser synonymous ABCD2 1 83220 1.20163E-5 41610 0 5.03525E-4
12-39994393-A-T p.His542Gln missense ABCD2 1 82970 1.20525E-5 41485 0 1.63828E-5
12-39994399-A-T p.Pro540Pro synonymous ABCD2 2 83026 2.40888E-5 41513 0 4.06237E-6
12-39994418-A-G p.Val534Ala missense ABCD2 1 83188 1.2021E-5 41594 0 NA
12-39994428-A-T p.Tyr531Asn missense ABCD2 2 83210 2.40356E-5 41605 0 8.24756E-6
12-39994433-G-T p.Pro529His missense ABCD2 1 83222 1.20161E-5 41611 0 NA
12-39994441-C-T p.Gly526Gly synonymous ABCD2 6 83220 7.20981E-5 41610 0 9.97295E-5
12-39994475-C-T p.Cys515Tyr missense ABCD2 1 83172 1.20233E-5 41586 0 3.18492E-5
12-39994480-A-T p.Asn513Lys missense ABCD2 1 83188 1.2021E-5 41594 0 NA
12-39994495-C-T p.Leu508Leu synonymous ABCD2 3 83156 3.60768E-5 41578 0 8.25641E-5
12-39994497-A-C p.Leu508Val missense ABCD2 1 83154 1.20259E-5 41577 0 NA
12-39994502-T-C p.His506Arg missense ABCD2 1 83134 1.20288E-5 41567 0 NA
12-39997706-C-T c.1500+8G>A splice_region ABCD2 1 82682 1.20945E-5 41341 0 3.20649E-5
12-39997727-C-T p.Arg496Lys missense ABCD2 5 82832 6.03631E-5 41416 0 1.2747E-4
12-39997767-C-T p.Val483Ile missense ABCD2 1 82784 1.20796E-5 41392 0 NA
12-39997785-C-T p.Gly477Arg missense ABCD2 3 82644 3.63003E-5 41322 0 5.05561E-4
12-39997786-G-C p.His476Gln missense ABCD2 1 82624 1.2103E-5 41312 0 8.28597E-6
12-39997786-G-A p.His476His synonymous ABCD2 7 82624 8.47211E-5 41312 0 9.56023E-5
12-39997795-A-G p.Asp473Asp synonymous ABCD2 1 82566 1.21115E-5 41283 0 NA
12-39997810-T-TTTAATTGCCAATGTGTCACTGAGAG c.1406-3_1406-2insCTCTCAGTGACACATTGGCAATTAA splice_region ABCD2 4 82252 4.8631E-5 41126 2 NA
12-39997811-G-T c.1406-3C>A splice_region ABCD2 2 82234 2.43208E-5 41117 1 NA
12-39998559-A-T c.1405+5T>A splice_region ABCD2 6 82554 7.26797E-5 41277 0 4.40661E-5
12-39998578-G-A p.Thr464Ile missense ABCD2 1 82940 1.20569E-5 41470 0 9.56389E-5
12-39998598-T-A p.Val457Val synonymous ABCD2 1 83046 1.20415E-5 41523 0 8.34836E-6
12-39998599-A-G p.Val457Ala missense ABCD2 1 83068 1.20383E-5 41534 0 4.02334E-6
12-39998608-C-T p.Gly454Glu missense ABCD2 2 83090 2.40703E-5 41545 0 1.65898E-5
12-39998619-A-T p.His450Gln missense ABCD2 1 83082 1.20363E-5 41541 0 8.27595E-6
12-39998642-C-T p.Val443Ile missense ABCD2 4 83068 4.81533E-5 41534 0 1.07404E-4
12-39998647-G-A p.Thr441Ile missense ABCD2 1 83062 1.20392E-5 41531 0 NA
12-39998655-A-G p.Tyr438Tyr synonymous ABCD2 3 83056 3.61202E-5 41528 0 6.37674E-5
12-39998656-T-C p.Tyr438Cys missense ABCD2 1 83056 1.20401E-5 41528 0 NA
12-39998679-A-G p.Phe430Phe synonymous ABCD2 1 83032 1.20435E-5 41516 0 NA
12-39998704-C-T p.Arg422Gln missense ABCD2 1 82970 1.20525E-5 41485 0 NA
12-39998715-G-T p.Gly418Gly synonymous ABCD2 2 82846 2.41412E-5 41423 0 4.22837E-6
12-39998734-TA-T c.1237-3delT splice_region ABCD2 1 82290 1.21521E-5 41145 0 2.58367E-5
12-39998735-A-G c.1237-3T>C splice_region ABCD2 1 82314 1.21486E-5 41157 0 8.62307E-6
12-40001394-C-A c.1236+7G>T splice_region ABCD2 1 82164 1.21708E-5 41082 0 1.3001E-5
12-40001410-T-G p.Ser409Ser synonymous ABCD2 1 82474 1.2125E-5 41237 0 NA
12-40001418-T-C p.Met407Val missense ABCD2 2 82624 2.4206E-5 41312 0 NA
12-40001459-C-T p.Arg393Gln missense ABCD2 1 83044 1.20418E-5 41522 0 NA
12-40001460-G-A p.Arg393* stop_gained ABCD2 3 83054 3.61211E-5 41527 0 NA
12-40001499-C-G p.Val380Leu missense ABCD2 3 82700 3.62757E-5 41350 0 4.02781E-6
12-40001524-T-C c.1121-8A>G splice_region ABCD2 1 81662 1.22456E-5 40831 0 NA
12-40010782-G-A c.1120+8C>T splice_region ABCD2 11 81930 1.34261E-4 40965 0 2.86862E-4
12-40010842-T-C p.Gly356Gly synonymous ABCD2 2 83062 2.40784E-5 41531 0 4.00301E-6
12-40010851-G-T p.Ser353Arg missense ABCD2 1 83074 1.20375E-5 41537 0 NA
12-40010863-C-T p.Lys349Lys synonymous ABCD2 3097 82946 0.0373375 41473 89 0.04125
12-40010868-T-A p.Met348Leu missense ABCD2 2 83118 2.40622E-5 41559 0 6.37024E-5
12-40010900-C-T p.Arg337His missense ABCD2 2 83150 2.40529E-5 41575 0 8.24538E-6
12-40010901-G-A p.Arg337Cys missense ABCD2 1 83152 1.20262E-5 41576 0 1.20122E-5
12-40010968-T-C p.Val314Val splice_region+synonymous ABCD2 1 82292 1.21518E-5 41146 0 1.68899E-5
12-40012512-A-G p.Asn302Asn synonymous ABCD2 1 83306 1.20039E-5 41653 0 8.27226E-6
12-40012527-C-T p.Ser297Ser synonymous ABCD2 7 83320 8.40134E-5 41660 0 6.36821E-5
12-40012527-C-G p.Ser297Ser synonymous ABCD2 1 83320 1.20019E-5 41660 0 9.55231E-5
12-40012528-G-A p.Ser297Leu missense ABCD2 1 83322 1.20016E-5 41661 0 1.64927E-5
12-40012540-C-T p.Arg293Gln missense ABCD2 2 83350 2.39952E-5 41675 0 3.18451E-5
12-40012541-G-A p.Arg293Trp missense ABCD2 1 83350 1.19976E-5 41675 0 1.19312E-5
12-40012544-A-G p.Leu292Leu synonymous ABCD2 1 83348 1.19979E-5 41674 0 NA
12-40012548-G-A p.Gly290Gly synonymous ABCD2 4 83350 4.79904E-5 41675 0 3.97668E-5
12-40012552-T-C p.Lys289Arg missense ABCD2 1 83354 1.1997E-5 41677 0 NA
12-40012580-T-C p.Lys280Glu missense ABCD2 2 83340 2.39981E-5 41670 0 3.1835E-5
12-40012589-T-G p.Lys277Gln missense ABCD2 1 83350 1.19976E-5 41675 0 NA
12-40012601-C-T p.Ala273Thr missense ABCD2 1 83360 1.19962E-5 41680 0 6.36983E-5
12-40012605-T-C p.Leu271Leu synonymous ABCD2 2 83356 2.39935E-5 41678 0 NA
12-40012647-G-A p.Thr257Thr synonymous ABCD2 1 83326 1.20011E-5 41663 0 NA
12-40012657-A-G p.Ile254Thr missense ABCD2 2 83324 2.40027E-5 41662 0 2.78416E-5
12-40012658-T-TTCTTTAGTG p.Pro253_Ile254insHisTerArg stop_gained ABCD2 1 83322 1.20016E-5 41661 0 NA
12-40012658-T-C p.Ile254Val missense ABCD2 2 83322 2.40033E-5 41661 0 6.3678E-5
12-40012669-C-T p.Gly250Glu missense ABCD2 1 83332 1.20002E-5 41666 0 8.23723E-6
12-40012677-T-G p.Thr247Thr synonymous ABCD2 10 83340 1.1999E-4 41670 0 3.18172E-4
12-40012734-C-A p.Leu228Leu synonymous ABCD2 3 83364 3.59868E-5 41682 0 3.97649E-6
12-40012749-G-A p.His223His synonymous ABCD2 4 83364 4.79823E-5 41682 0 5.03525E-4
12-40012785-C-T p.Thr211Thr synonymous ABCD2 11 83340 1.31989E-4 41670 0 2.54777E-4
12-40012785-C-A p.Thr211Thr synonymous ABCD2 1 83340 1.1999E-5 41670 0 1.19295E-5
12-40012786-G-A p.Thr211Met missense ABCD2 1 83338 1.19993E-5 41669 0 3.97655E-6
12-40012794-T-C p.Gln208Gln synonymous ABCD2 3 83344 3.59954E-5 41672 0 NA
12-40012807-G-A p.Ala204Val missense ABCD2 1 83358 1.19964E-5 41679 0 6.37064E-5
12-40012809-C-T p.Leu203Leu synonymous ABCD2 1 83358 1.19964E-5 41679 0 NA
12-40012811-G-C p.Leu203Val missense ABCD2 3 83356 3.59902E-5 41678 0 NA
12-40012827-G-A p.Ile197Ile synonymous ABCD2 2 83368 2.399E-5 41684 0 1.64739E-5
12-40012841-A-G p.Tyr193His missense ABCD2 1 83374 1.19941E-5 41687 0 NA
12-40012853-T-A p.Thr189Ser missense ABCD2 5 83384 5.99635E-5 41692 0 6.3678E-5
12-40012860-G-A p.Thr186Thr synonymous ABCD2 2 83378 2.39871E-5 41689 0 NA
12-40012861-G-A p.Thr186Ile missense ABCD2 23 83378 2.75852E-4 41689 0 4.4586E-4
12-40012861-G-T p.Thr186Asn missense ABCD2 1 83378 1.19936E-5 41689 0 6.58946E-5
12-40012863-T-G p.Glu185Asp missense ABCD2 1 83380 1.19933E-5 41690 0 3.29473E-5
12-40012872-G-A p.His182His synonymous ABCD2 33 83384 3.95759E-4 41692 0 7.32577E-4
12-40012874-G-T p.His182Asn missense ABCD2 1 83386 1.19924E-5 41693 0 NA
12-40012886-G-A p.Arg178Cys missense ABCD2 2 83386 2.39848E-5 41693 0 2.47117E-5
12-40012904-C-G p.Ala172Pro missense ABCD2 2 83392 2.39831E-5 41696 1 NA
12-40012910-T-C p.Lys170Glu missense ABCD2 1 83390 1.19918E-5 41695 0 3.97665E-6
12-40012932-A-G p.Ser162Ser synonymous ABCD2 1 83386 1.19924E-5 41693 0 NA
12-40012944-G-A p.Thr158Thr synonymous ABCD2 1 83380 1.19933E-5 41690 0 NA
12-40012994-T-C p.Thr142Ala missense ABCD2 1 83334 1.19999E-5 41667 0 8.23737E-6
12-40012996-C-T p.Arg141Gln missense ABCD2 1 83330 1.20005E-5 41665 0 2.47129E-5
12-40013008-T-C p.Glu137Gly missense ABCD2 1 83320 1.20019E-5 41660 0 NA
12-40013012-C-T p.Val136Met missense ABCD2 1 83324 1.20013E-5 41662 0 3.97817E-6
12-40013013-A-G p.Ile135Ile synonymous ABCD2 3 83326 3.60032E-5 41663 0 NA
12-40013015-T-C p.Ile135Val missense ABCD2 1 83326 1.20011E-5 41663 0 NA
12-40013019-T-G p.Lys133Asn missense ABCD2 1 83320 1.20019E-5 41660 0 NA
12-40013024-C-T p.Val132Met missense ABCD2 2 83286 2.40136E-5 41643 0 NA
12-40013038-A-T p.Leu127Gln missense ABCD2 1 83284 1.20071E-5 41642 0 NA
12-40013042-C-A p.Gly126Cys missense ABCD2 8 83268 9.60753E-5 41634 0 2.23086E-4
12-40013052-G-C p.Ile122Met missense ABCD2 4 83264 4.804E-5 41632 0 1.91107E-4
12-40013064-G-T p.Thr118Thr synonymous ABCD2 1 83274 1.20085E-5 41637 0 NA
12-40013069-T-C p.Arg117Gly missense ABCD2 2 83286 2.40136E-5 41643 0 NA
12-40013095-C-G p.Cys108Ser missense ABCD2 1 83322 1.20016E-5 41661 0 NA
12-40013123-G-A p.Leu99Phe missense ABCD2 1 83344 1.19985E-5 41672 0 3.97966E-6
12-40013126-T-C p.Lys98Glu missense ABCD2 7 83344 8.39893E-5 41672 0 1.91107E-4
12-40013144-G-A p.Arg92Trp missense ABCD2 1 83350 1.19976E-5 41675 0 3.18532E-5
12-40013153-G-A p.Leu89Leu synonymous ABCD2 170 83348 0.00203964 41674 0 0.00404639
12-40013159-G-C p.Gln87Glu missense ABCD2 4 83346 4.79927E-5 41673 0 2.78611E-5
12-40013163-G-A p.Phe85Phe synonymous ABCD2 2 83340 2.39981E-5 41670 0 3.97981E-6
12-40013170-T-C p.Asp83Gly missense ABCD2 2 83340 2.39981E-5 41670 0 NA
12-40013210-C-T p.Glu70Lys missense ABCD2 2 83328 2.40015E-5 41664 0 NA
12-40013211-G-A p.Thr69Thr synonymous ABCD2 10 83324 1.20013E-4 41662 0 9.14768E-5
12-40013211-G-T p.Thr69Thr synonymous ABCD2 3 83326 3.60032E-5 41663 0 5.03525E-4
12-40013230-G-C p.Thr63Arg missense ABCD2 222 83324 0.0026643 41662 0 0.00576764
12-40013235-C-T p.Glu61Glu synonymous ABCD2 1 83320 1.20019E-5 41660 0 NA
12-40013255-C-T p.Ala55Thr missense ABCD2 4 83280 4.80307E-5 41640 0 6.25E-4
12-40013258-C-CT p.Ala54fs frameshift ABCD2 1 83254 1.20114E-5 41627 0 NA
12-40013271-G-T p.His49Gln missense ABCD2 2 83230 2.40298E-5 41615 0 NA
12-40013274-G-T p.Gly48Gly synonymous ABCD2 1 83218 1.20166E-5 41609 0 3.97972E-6
12-40013279-A-T p.Ser47Thr missense ABCD2 4 83204 4.80746E-5 41602 1 NA
12-40013280-T-C p.Gln46Gln synonymous ABCD2 2 83200 2.40385E-5 41600 0 2.78554E-5
12-40013292-C-G p.Lys42Asn missense ABCD2 3 83092 3.61046E-5 41546 1 5.03525E-4
12-40013307-A-G p.Tyr37Tyr synonymous ABCD2 2 82918 2.41202E-5 41459 0 NA
12-40013312-G-A p.Leu36Phe missense ABCD2 1 82822 1.20741E-5 41411 0 3.18695E-5
12-40013313-G-A p.Thr35Thr synonymous ABCD2 1 82770 1.20817E-5 41385 0 NA
12-40013321-G-A p.Leu33Leu synonymous ABCD2 2 82518 2.42371E-5 41259 0 8.24593E-6
12-40013324-C-T p.Ala32Thr missense ABCD2 1 82412 1.21342E-5 41206 0 NA
12-40013324-C-A p.Ala32Ser missense ABCD2 1 82412 1.21342E-5 41206 0 NA
12-40013340-C-T p.Leu26Leu synonymous ABCD2 1 81912 1.22082E-5 40956 0 8.26132E-6
12-40013343-G-C p.Cys25Trp missense ABCD2 2 81822 2.44433E-5 40911 0 NA
12-40013345-A-C p.Cys25Gly missense ABCD2 1 81814 1.22228E-5 40907 0 4.39634E-5
12-40013348-C-T p.Ala24Thr missense ABCD2 1 81762 1.22306E-5 40881 0 3.99878E-6
12-40013361-A-G p.Ala19Ala synonymous ABCD2 2 81472 2.45483E-5 40736 0 NA
12-40013363-C-A p.Ala19Ser missense ABCD2 2 81434 2.45598E-5 40717 0 NA
12-40013365-C-A p.Ser18Ile missense ABCD2 1 81442 1.22787E-5 40721 0 NA
12-40013373-G-C p.Thr15Thr synonymous ABCD2 1 81330 1.22956E-5 40665 0 2.00491E-5
12-40013380-T-G p.Lys13Thr missense ABCD2 1 81286 1.23022E-5 40643 0 1.20428E-5
12-40013383-A-C p.Val12Gly missense ABCD2 1 81254 1.23071E-5 40627 0 NA
12-40013388-A-G p.Asp10Asp synonymous ABCD2 1 81212 1.23135E-5 40606 0 NA
12-40013391-A-G p.Ala9Ala synonymous ABCD2 1 81182 1.2318E-5 40591 0 NA
12-40013392-G-C p.Ala9Gly missense ABCD2 1296 81108 0.0159787 40554 18 0.0175
12-40013459-A-C c.-42T>G 5_prime_UTR_premature_start_codon_gain ABCD2 1 78862 1.26804E-5 39431 0 NA
12-40013513-G-A c.-96C>T 5_prime_UTR_premature_start_codon_gain ABCD2 1 67182 1.48849E-5 33591 0 NA
12-40013528-G-A c.-111C>T 5_prime_UTR_premature_start_codon_gain ABCD2 3 61362 4.88902E-5 30681 0 NA