Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-215796265-A-ATGAG c.*1089_*1092dupCTCA splice_region ABCA12 1 44592 2.24255E-5 22296 0 NA
2-215797352-GAAGTGTT-G p.Ter2596fs frameshift ABCA12 1 82484 1.21236E-5 41242 0 1.19798E-5
2-215797358-T-C p.Ter2596Ter stop_retained ABCA12 1 82520 1.21183E-5 41260 0 NA
2-215797366-C-T p.Glu2594Lys missense ABCA12 3 82602 3.63187E-5 41301 0 3.18532E-5
2-215797368-A-G p.Met2593Thr missense ABCA12 1 82606 1.21057E-5 41303 0 3.98826E-6
2-215797370-C-T p.Gln2592Gln synonymous ABCA12 2 82636 2.42025E-5 41318 1 NA
2-215797371-TG-T p.Gln2592fs frameshift ABCA12 1 82622 1.21033E-5 41311 0 NA
2-215797375-C-T p.Asp2591Asn missense ABCA12 2 82658 2.41961E-5 41329 0 NA
2-215797385-G-A p.Asp2587Asp synonymous ABCA12 2 82720 2.41779E-5 41360 0 NA
2-215797391-A-ACTT p.Ile2584_Ser2585insArg disruptive_inframe_insertion ABCA12 11 82760 1.32914E-4 41380 0 8.76913E-5
2-215797396-T-C p.Ile2584Val missense ABCA12 6 82782 7.24795E-5 41391 0 2.22887E-4
2-215797396-T-G p.Ile2584Leu missense ABCA12 1 82780 1.20802E-5 41390 0 4.38338E-5
2-215797399-T-C p.Thr2583Ala missense ABCA12 2 82788 2.41581E-5 41394 0 NA
2-215797402-A-G p.Ser2582Pro missense ABCA12 2 82800 2.41546E-5 41400 0 8.28157E-6
2-215797415-G-A p.Thr2577Thr synonymous ABCA12 3 82800 3.62319E-5 41400 0 2.48357E-5
2-215797431-T-C p.Tyr2572Cys missense ABCA12 33 82804 3.98531E-4 41402 0 2.43041E-4
2-215797437-T-G p.Lys2570Thr missense ABCA12 3 82818 3.6224E-5 41409 0 1.19535E-5
2-215797442-G-GTCTT p.Asp2568fs frameshift ABCA12 1 82758 1.20834E-5 41379 0 8.28665E-6
2-215797447-T-C p.Lys2567Glu missense ABCA12 1 82764 1.20825E-5 41382 0 3.18532E-5
2-215797460-G-A p.Phe2562Phe synonymous ABCA12 1 82664 1.20972E-5 41332 0 NA
2-215797469-A-AT c.7681-5_7681-4insA splice_region ABCA12 2 82550 2.42277E-5 41275 0 3.9888E-6
2-215798794-T-C c.7680+8A>G splice_region ABCA12 2 82198 2.43315E-5 41099 0 3.18573E-5
2-215798797-C-A c.7680+5G>T splice_region ABCA12 15 82228 1.8242E-4 41114 0 4.46542E-4
2-215798800-A-G c.7680+2T>C splice_donor ABCA12 2 82236 2.43202E-5 41118 0 8.27636E-6
2-215798814-G-T p.Thr2556Thr synonymous ABCA12 1 82352 1.2143E-5 41176 0 3.18552E-5
2-215798815-G-C p.Thr2556Ser missense ABCA12 1 82350 1.21433E-5 41175 0 8.26802E-6
2-215798816-TCTGA-T p.Ser2554fs frameshift ABCA12 1 82360 1.21418E-5 41180 0 NA
2-215798823-C-G p.Val2553Val synonymous ABCA12 2 82396 2.4273E-5 41198 0 8.2661E-6
2-215798834-T-C p.Asn2550Asp missense ABCA12 1 82554 1.21133E-5 41277 0 3.18492E-5
2-215798851-G-A p.Thr2544Ile missense ABCA12 186 82714 0.00224871 41357 0 0.005
2-215798853-C-G p.Lys2543Asn missense ABCA12 1 82730 1.20875E-5 41365 0 NA
2-215798885-C-T p.Ala2533Thr missense ABCA12 46 82896 5.54912E-4 41448 0 8.59927E-4
2-215798886-G-A p.Val2532Val synonymous ABCA12 2 82918 2.41202E-5 41459 0 1.1949E-5
2-215798887-ACTC-GCGA p.GlyVal2531ValAla missense ABCA12 1 82902 1.20624E-5 41451 0 NA
2-215798901-G-A p.Val2527Val synonymous ABCA12 1 82974 1.2052E-5 41487 0 1.59276E-5
2-215798902-A-G p.Val2527Ala missense ABCA12 1 82970 1.20525E-5 41485 0 3.18532E-5
2-215798916-C-T p.Glu2522Glu synonymous ABCA12 2 82970 2.41051E-5 41485 0 4.12296E-5
2-215798919-T-C p.Leu2521Leu synonymous ABCA12 1 82942 1.20566E-5 41471 0 8.24552E-6
2-215802261-C-T p.Gln2505Gln synonymous ABCA12 9 82956 1.08491E-4 41478 0 1.27429E-4
2-215802286-A-G p.Met2497Thr missense ABCA12 3 83078 3.61106E-5 41539 0 2.47668E-5
2-215802287-T-C p.Met2497Val missense ABCA12 1 83080 1.20366E-5 41540 0 5.03525E-4
2-215802300-A-G p.Asn2492Asn synonymous ABCA12 1 83088 1.20354E-5 41544 0 NA
2-215802302-T-C p.Asn2492Asp missense ABCA12 1 83064 1.20389E-5 41532 0 3.98213E-6
2-215802303-C-T p.Lys2491Lys synonymous ABCA12 1 83068 1.20383E-5 41534 0 1.19464E-5
2-215802308-A-G p.Leu2490Leu synonymous ABCA12 235 83052 0.00282955 41526 2 0.0125
2-215802312-A-G p.Val2488Val synonymous ABCA12 1 83028 1.20441E-5 41514 0 3.98273E-6
2-215802314-C-T p.Val2488Ile missense ABCA12 3 83034 3.61298E-5 41517 0 3.18451E-5
2-215802331-C-T p.Arg2482Gln missense ABCA12 2 82866 2.41354E-5 41433 0 3.18451E-5
2-215802332-G-A p.Arg2482* stop_gained ABCA12 3 82850 3.621E-5 41425 0 1.99256E-5
2-215802333-T-G p.Gly2481Gly synonymous ABCA12 1 82840 1.20715E-5 41420 0 1.19553E-5
2-215807653-T-C p.Ser2478Gly missense ABCA12 2 82806 2.41528E-5 41403 0 NA
2-215807696-C-T p.Val2463Val synonymous ABCA12 2 82994 2.40981E-5 41497 0 7.45255E-5
2-215807697-A-G p.Val2463Ala missense ABCA12 2 82974 2.41039E-5 41487 0 NA
2-215807712-C-G p.Arg2458Thr missense ABCA12 1 82982 1.20508E-5 41491 0 NA
2-215807712-C-T p.Arg2458Lys missense ABCA12 1 82982 1.20508E-5 41491 0 8.28432E-6
2-215807718-C-G p.Cys2456Ser missense ABCA12 1 82972 1.20523E-5 41486 0 9.55292E-5
2-215807748-G-T c.7344-7C>A splice_region ABCA12 5 82888 6.03224E-5 41444 0 5.20258E-5
2-215809717-C-T c.7343+8G>A splice_region ABCA12 73 82692 8.82794E-4 41346 1 0.00125
2-215809744-C-T p.Val2442Ile missense ABCA12 5 82872 6.0334E-5 41436 0 1.27535E-4
2-215809745-G-A p.Ser2441Ser synonymous ABCA12 2 82862 2.41365E-5 41431 0 1.09037E-4
2-215809762-C-T p.Val2436Ile missense ABCA12 1 82852 1.20697E-5 41426 0 8.35227E-6
2-215809782-C-T p.Trp2429* stop_gained ABCA12 1 82872 1.20668E-5 41436 0 NA
2-215809796-C-T p.Ser2424Ser synonymous ABCA12 2 82828 2.41464E-5 41414 0 1.68042E-5
2-215809799-C-T p.Lys2423Lys synonymous ABCA12 1 82826 1.20735E-5 41413 0 1.59465E-5
2-215809802-C-T p.Pro2422Pro synonymous ABCA12 4 82790 4.8315E-5 41395 0 1.59509E-5
2-215809803-G-A p.Pro2422Leu missense ABCA12 1 82760 1.20831E-5 41380 0 3.18857E-5
2-215809820-C-T p.Pro2416Pro synonymous ABCA12 1 82636 1.21013E-5 41318 0 8.73561E-6
2-215809821-G-A p.Pro2416Leu missense ABCA12 1 82630 1.21021E-5 41315 0 2.63412E-5
2-215809834-T-C c.7240-6A>G splice_region ABCA12 5 82392 6.06855E-5 41196 0 3.18532E-5
2-215812163-G-A p.Pro2408Ser missense ABCA12 4 83076 4.81487E-5 41538 0 0.00151057
2-215812176-G-C p.Ala2403Ala synonymous ABCA12 12 83070 1.44456E-4 41535 0 0.00100705
2-215812206-G-T p.Gly2393Gly synonymous ABCA12 2 83026 2.40888E-5 41513 0 NA
2-215812209-A-G p.Tyr2392Tyr synonymous ABCA12 2 83016 2.40917E-5 41508 0 2.47337E-5
2-215812219-A-T p.Met2389Lys missense ABCA12 1 83032 1.20435E-5 41516 0 NA
2-215812247-TC-T p.Met2380fs frameshift ABCA12 2 83104 2.40662E-5 41552 0 3.3036E-5
2-215812250-G-C p.Leu2379Val missense ABCA12 1 83118 1.20311E-5 41559 0 3.98165E-6
2-215812259-T-G p.Arg2376Arg synonymous ABCA12 5 83088 6.01772E-5 41544 0 2.47922E-5
2-215812263-A-G p.Leu2374Leu synonymous ABCA12 1 83090 1.20351E-5 41545 0 3.18735E-5
2-215812272-A-T p.His2371Gln missense ABCA12 1 83078 1.20369E-5 41539 0 5.03525E-4
2-215812278-A-G p.Thr2369Thr splice_region+synonymous ABCA12 1 83074 1.20375E-5 41537 0 3.18756E-5
2-215812284-T-C c.7105-4A>G splice_region ABCA12 1 83060 1.20395E-5 41530 0 NA
2-215813316-T-G c.7104+4A>C splice_region ABCA12 10 83184 1.20215E-4 41592 0 1.15842E-4
2-215813322-C-T p.Glu2368Lys missense+splice_region ABCA12 18 83222 2.16289E-4 41611 0 1.27462E-4
2-215813324-T-G p.Lys2367Thr missense ABCA12 1 83218 1.20166E-5 41609 0 3.18512E-5
2-215813331-C-T p.Asp2365Asn missense ABCA12 1571 83202 0.0188818 41601 18 0.0280963
2-215813340-G-A p.Pro2362Ser missense ABCA12 1 83270 1.20091E-5 41635 0 1.98921E-5
2-215813354-C-A p.Arg2357Met missense ABCA12 1 83280 1.20077E-5 41640 0 8.24606E-6
2-215813357-G-A p.Ala2356Val missense ABCA12 1 83266 1.20097E-5 41633 0 NA
2-215813365-A-G p.Tyr2353Tyr synonymous ABCA12 1 83276 1.20083E-5 41638 0 8.24443E-6
2-215813389-CAGGT-C p.Asp2344fs frameshift ABCA12 1 83236 1.2014E-5 41618 0 NA
2-215813395-ATC-TTT p.Asp2343Lys missense ABCA12 1 83224 1.20158E-5 41612 0 NA
2-215813420-T-C p.Tyr2335Cys missense ABCA12 1 83162 1.20247E-5 41581 0 3.1841E-5
2-215813441-G-A p.Ser2328Phe missense ABCA12 1 83080 1.20366E-5 41540 0 8.24701E-6
2-215813448-C-T p.Val2326Ile missense ABCA12 6 83028 7.22648E-5 41514 0 1.03494E-4
2-215813449-G-A p.His2325His synonymous ABCA12 2 83010 2.40935E-5 41505 0 8.24892E-5
2-215813462-C-A c.6963-1G>T splice_acceptor ABCA12 1 82888 1.20645E-5 41444 0 NA
2-215813759-C-T c.6962+5G>A splice_region ABCA12 32 82990 3.85589E-4 41495 0 2.871E-4
2-215813763-C-T c.6962+1G>A splice_donor ABCA12 2 82994 2.40981E-5 41497 0 6.38284E-5
2-215813765-C-T p.Gly2321Arg missense+splice_region ABCA12 4 83006 4.81893E-5 41503 0 3.19E-5
2-215813766-G-A p.Thr2320Thr splice_region+synonymous ABCA12 1 82996 1.20488E-5 41498 0 3.19591E-5
2-215813773-T-C p.Asn2318Ser missense ABCA12 1 83048 1.20412E-5 41524 0 3.97845E-6
2-215813781-C-G p.Leu2315Leu synonymous ABCA12 1 83074 1.20375E-5 41537 0 1.27535E-4
2-215813784-A-T p.Ile2314Ile synonymous ABCA12 1 83088 1.20354E-5 41544 0 NA
2-215813784-A-G p.Ile2314Ile synonymous ABCA12 1 83088 1.20354E-5 41544 0 3.18715E-5
2-215813785-A-G p.Ile2314Thr missense ABCA12 1 83082 1.20363E-5 41541 0 NA
2-215813807-T-C p.Ile2307Val missense ABCA12 200 83090 0.00240703 41545 1 0.0025
2-215813807-T-A p.Ile2307Phe missense ABCA12 2 83094 2.40691E-5 41547 0 8.23968E-6
2-215813808-G-T p.Asp2306Glu missense ABCA12 1 83090 1.20351E-5 41545 0 NA
2-215813848-C-G p.Gly2293Ala missense ABCA12 1 83000 1.20482E-5 41500 0 NA
2-215813851-T-C p.Asn2292Ser missense ABCA12 5 82990 6.02482E-5 41495 0 NA
2-215813867-CA-C p.Phe2286fs frameshift ABCA12 1 82846 1.20706E-5 41423 0 1.9907E-5
2-215815602-C-G c.6852+1G>C splice_donor ABCA12 2 83196 2.40396E-5 41598 0 3.97997E-6
2-215815603-C-G p.Glu2284Asp missense+splice_region ABCA12 36 83200 4.32692E-4 41600 1 0.004375
2-215815610-GC-CT p.Ala2282Ser missense ABCA12 3 83242 3.60395E-5 41621 0 NA
2-215815619-C-G p.Gly2279Ala missense ABCA12 5 83270 6.00456E-5 41635 0 1.59307E-4
2-215815636-T-C p.Val2273Val synonymous ABCA12 119 83322 0.00142819 41661 0 0.0040282
2-215815643-A-G p.Ile2271Thr missense ABCA12 3 83334 3.59997E-5 41667 0 4.11984E-5
2-215815694-A-C p.Val2254Gly missense ABCA12 2 83396 2.3982E-5 41698 0 NA
2-215815698-A-C p.Leu2253Val missense ABCA12 2 83400 2.39808E-5 41700 0 3.97728E-6
2-215815702-A-C p.Phe2251Leu missense ABCA12 4 83402 4.79605E-5 41701 0 8.23818E-6
2-215815706-T-G p.Glu2250Ala missense ABCA12 1 83398 1.19907E-5 41699 0 NA
2-215815715-C-A p.Gly2247Val missense ABCA12 1 83398 1.19907E-5 41699 0 NA
2-215815716-C-G p.Gly2247Arg missense ABCA12 3 83398 3.59721E-5 41699 0 8.23832E-6
2-215815721-T-C p.Glu2245Gly missense ABCA12 1 83400 1.19904E-5 41700 0 3.97706E-6
2-215815741-C-T p.Arg2238Arg synonymous ABCA12 4 83384 4.79708E-5 41692 0 NA
2-215815742-C-T p.Arg2238Gln missense ABCA12 1 83382 1.1993E-5 41691 0 3.295E-5
2-215815750-T-G p.Glu2235Asp missense ABCA12 1 83364 1.19956E-5 41682 0 3.97798E-6
2-215815751-T-G p.Glu2235Ala missense ABCA12 120 83364 0.00143947 41682 0 0.00302115
2-215815760-T-C p.Asp2232Gly missense ABCA12 15 83334 1.79999E-4 41667 0 2.71851E-4
2-215815765-T-C p.Thr2230Thr synonymous ABCA12 37 83330 4.44018E-4 41665 0 0.00114635
2-215815770-C-G p.Glu2229Gln missense ABCA12 1 83290 1.20062E-5 41645 0 1.19372E-5
2-215815774-T-C p.Val2227Val synonymous ABCA12 1 83264 1.201E-5 41632 0 NA
2-215815781-G-A p.Ser2225Leu missense ABCA12 1 83214 1.20172E-5 41607 0 NA
2-215815782-A-G p.Ser2225Pro missense ABCA12 1 83204 1.20187E-5 41602 0 NA
2-215815787-T-C p.Asn2223Ser missense ABCA12 1 83166 1.20241E-5 41583 0 1.59255E-5
2-215815793-T-G p.Lys2221Thr missense ABCA12 2 83086 2.40714E-5 41543 0 NA
2-215815807-C-A p.Arg2216Ser missense+splice_region ABCA12 405 82830 0.00488953 41415 5 0.0120666
2-215818600-C-T p.Glu2209Lys missense ABCA12 2 82990 2.40993E-5 41495 0 9.3574E-5
2-215818600-C-G p.Glu2209Gln missense ABCA12 2 82990 2.40993E-5 41495 0 8.50673E-6
2-215818601-G-A p.Asn2208Asn synonymous ABCA12 8 83000 9.63855E-5 41500 0 5.03525E-4
2-215818606-T-G p.Ile2207Leu missense ABCA12 1 83030 1.20438E-5 41515 0 NA
2-215818607-T-C p.Leu2206Leu synonymous ABCA12 2 83034 2.40865E-5 41517 0 6.37308E-5
2-215818614-C-T p.Arg2204Gln missense ABCA12 26 83054 3.13049E-4 41527 0 3.19857E-4
2-215818615-G-T p.Arg2204Arg synonymous ABCA12 3 83062 3.61176E-5 41531 0 NA
2-215818624-A-T p.Phe2201Ile missense ABCA12 3 83090 3.61054E-5 41545 0 1.49335E-4
2-215818629-A-G p.Met2199Thr missense ABCA12 2 83088 2.40709E-5 41544 0 NA
2-215818632-G-C p.Thr2198Ser missense ABCA12 2 83080 2.40732E-5 41540 0 8.28034E-6
2-215818632-G-A p.Thr2198Ile missense ABCA12 1 83080 1.20366E-5 41540 0 NA
2-215818634-G-A p.Gly2197Gly synonymous ABCA12 1 83086 1.20357E-5 41543 0 3.18471E-5
2-215818645-C-A p.Val2194Phe missense ABCA12 1 83102 1.20334E-5 41551 0 0.001875
2-215818651-C-T p.Ala2192Thr missense ABCA12 1 83092 1.20349E-5 41546 0 NA
2-215818653-A-G p.Val2191Ala missense ABCA12 2 83080 2.40732E-5 41540 0 NA
2-215818658-C-T p.Met2189Ile missense ABCA12 3 83082 3.61089E-5 41541 0 NA
2-215818658-C-G p.Met2189Ile missense ABCA12 1 83082 1.20363E-5 41541 0 NA
2-215818679-C-G p.Glu2182Asp missense ABCA12 5 83054 6.02018E-5 41527 0 6.25E-4
2-215818682-A-G p.Phe2181Phe synonymous ABCA12 7 83052 8.42845E-5 41526 0 4.37853E-5
2-215818686-G-C p.Thr2180Ser missense ABCA12 2 83072 2.40755E-5 41536 0 7.96083E-6
2-215818691-A-G p.Asn2178Asn synonymous ABCA12 1 83076 1.20372E-5 41538 0 1.59209E-5
2-215818703-C-T p.Val2174Val synonymous ABCA12 1 83090 1.20351E-5 41545 0 3.98016E-6
2-215818704-A-G p.Val2174Ala missense ABCA12 1 83086 1.20357E-5 41543 0 8.24198E-6
2-215818710-T-A p.Tyr2172Phe missense ABCA12 1 83120 1.20308E-5 41560 0 5.76872E-5
2-215818721-G-A p.Phe2168Phe synonymous ABCA12 2 83124 2.40604E-5 41562 0 3.18451E-5
2-215818724-G-A p.Asp2167Asp synonymous ABCA12 608 83114 0.00731525 41557 4 0.00643107
2-215818733-C-T p.Ser2164Ser synonymous ABCA12 1 83124 1.20302E-5 41562 0 5.04032E-4
2-215818734-G-A p.Ser2164Leu missense ABCA12 2 83134 2.40575E-5 41567 0 5.04032E-4
2-215818754-A-T p.Ile2157Ile synonymous ABCA12 1 83124 1.20302E-5 41562 0 8.24429E-6
2-215818762-C-T p.Gly2155Ser missense ABCA12 1 83124 1.20302E-5 41562 0 1.19449E-5
2-215818763-G-A p.Tyr2154Tyr synonymous ABCA12 21 83116 2.52659E-4 41558 0 6.25E-4
2-215818771-A-C p.Phe2152Val missense ABCA12 2 83116 2.40628E-5 41558 0 6.25E-4
2-215818776-A-T p.Phe2150Tyr missense ABCA12 1 83104 1.20331E-5 41552 0 NA
2-215818778-T-C p.Gln2149Gln synonymous ABCA12 11 83086 1.32393E-4 41543 0 5.97424E-5
2-215818778-T-A p.Gln2149His missense ABCA12 1 83086 1.20357E-5 41543 0 8.25818E-6
2-215818780-G-A p.Gln2149* stop_gained ABCA12 1 83082 1.20363E-5 41541 0 NA
2-215818795-A-G p.Phe2144Leu missense ABCA12 1 83038 1.20427E-5 41519 0 NA
2-215818801-G-A p.Arg2142Cys missense ABCA12 1 82988 1.20499E-5 41494 0 2.39529E-5
2-215818809-G-A p.Thr2139Ile missense ABCA12 2 82976 2.41034E-5 41488 0 3.18573E-5
2-215818816-A-C p.Ser2137Ala missense ABCA12 2 82972 2.41045E-5 41486 0 5.05051E-4
2-215818834-GA-G c.6394-4delT splice_region ABCA12 1 82954 1.20549E-5 41477 0 NA
2-215819920-C-A c.6393+6G>T splice_region ABCA12 71 83302 8.5232E-4 41651 0 0.00159215
2-215819926-C-T p.Pro2131Pro splice_region+synonymous ABCA12 6 83296 7.20323E-5 41648 0 2.38694E-5
2-215819928-G-A p.Pro2131Ser missense+splice_region ABCA12 6 83290 7.20375E-5 41645 0 8.25968E-6
2-215819932-A-G p.Asn2129Asn synonymous ABCA12 1 83298 1.20051E-5 41649 0 NA
2-215819962-C-G p.Val2119Val synonymous ABCA12 1 83298 1.20051E-5 41649 0 NA
2-215819968-C-G p.Leu2117Leu synonymous ABCA12 1 83292 1.2006E-5 41646 0 NA
2-215820013-G-A p.Tyr2102Tyr synonymous ABCA12 33791 82678 0.408706 41339 6976 0.4425
2-215820013-GT-AA p.Tyr2102Phe missense ABCA12 1 83244 1.20129E-5 41622 0 NA
2-215820014-T-A p.Tyr2102Phe missense ABCA12 2 83254 2.40229E-5 41627 0 6.37105E-5
2-215820014-T-G p.Tyr2102Ser missense ABCA12 1 83254 1.20114E-5 41627 0 NA
2-215820025-G-A p.Ala2098Ala synonymous ABCA12 21 83266 2.52204E-4 41633 0 0.00125
2-215820030-T-C p.Met2097Val missense ABCA12 2 83258 2.40217E-5 41629 0 NA
2-215820050-C-T p.Gly2090Glu missense ABCA12 4 83248 4.80492E-5 41624 0 1.27421E-4
2-215820088-G-A c.6234-3C>T splice_region ABCA12 1 83062 1.20392E-5 41531 0 NA
2-215821410-T-C p.Val2070Val synonymous ABCA12 4 82974 4.82079E-5 41487 0 1.65183E-5
2-215821412-C-T p.Val2070Ile missense ABCA12 198 82968 0.00238646 41484 1 0.00199858
2-215821448-A-C p.Leu2058Val missense ABCA12 3 82988 3.61498E-5 41494 0 1.1941E-5
2-215821458-C-T p.Ala2054Ala synonymous ABCA12 32 82930 3.85868E-4 41465 0 3.50338E-4
2-215821459-G-A p.Ala2054Val missense ABCA12 2 82932 2.41161E-5 41466 0 3.20123E-5
2-215821461-A-T p.Ile2053Ile synonymous ABCA12 2 82942 2.41132E-5 41471 0 1.71169E-4
2-215821462-A-G p.Ile2053Thr missense ABCA12 1 82936 1.20575E-5 41468 0 3.18756E-5
2-215821464-G-A p.Ile2052Ile synonymous ABCA12 6 82926 7.23537E-5 41463 0 6.76811E-5
2-215821466-T-C p.Ile2052Val missense ABCA12 12 82892 1.44767E-4 41446 0 7.44048E-5
2-215821471-A-G p.Ile2050Thr missense ABCA12 9 82880 1.08591E-4 41440 0 0.00100705
2-215821472-T-C p.Ile2050Val missense ABCA12 1 82886 1.20648E-5 41443 0 8.27458E-6
2-215821479-C-T p.Ala2047Ala synonymous ABCA12 1 82838 1.20718E-5 41419 0 4.96779E-5
2-215821479-C-A p.Ala2047Ala synonymous ABCA12 1 82838 1.20718E-5 41419 0 NA
2-215821480-G-C p.Ala2047Gly missense ABCA12 2 82820 2.41488E-5 41410 0 3.98267E-6
2-215821508-G-A c.6118-6C>T splice_region ABCA12 1 82394 1.21368E-5 41197 0 1.04131E-4
2-215822996-C-T c.6117+5G>A splice_region ABCA12 1 83164 1.20244E-5 41582 0 3.97928E-6
2-215823016-G-A p.Asn2034Asn synonymous ABCA12 4 83246 4.80504E-5 41623 0 6.36902E-5
2-215823039-C-G p.Val2027Leu missense ABCA12 1 83296 1.20054E-5 41648 0 7.95615E-6
2-215823042-C-T p.Gly2026Ser missense ABCA12 3 83302 3.60135E-5 41651 0 1.15352E-4
2-215823049-T-C p.Ser2023Ser synonymous ABCA12 1 83308 1.20036E-5 41654 0 NA
2-215823079-T-C p.Gln2013Gln synonymous ABCA12 1 83320 1.20019E-5 41660 0 1.64829E-5
2-215823091-T-G p.Val2009Val synonymous ABCA12 1 83320 1.20019E-5 41660 0 NA
2-215823114-C-T p.Ala2002Thr missense ABCA12 1 83306 1.20039E-5 41653 0 3.2994E-5
2-215823115-G-A p.Thr2001Thr synonymous ABCA12 3 83302 3.60135E-5 41651 0 7.42427E-5
2-215823118-G-A p.Thr2000Thr synonymous ABCA12 12 83300 1.44058E-4 41650 0 1.27372E-4
2-215823139-G-C p.Ile1993Met missense ABCA12 94 83276 0.00112878 41638 1 0.00312062
2-215823141-T-C p.Ile1993Val missense ABCA12 1 83268 1.20094E-5 41634 0 NA
2-215823149-G-C p.Ala1990Gly missense ABCA12 4 83212 4.807E-5 41606 0 3.98172E-6
2-215823153-C-T p.Val1989Met missense ABCA12 2 83200 2.40385E-5 41600 0 NA
2-215823163-G-A p.Ile1985Ile synonymous ABCA12 9 83180 1.08199E-4 41590 0 4.14374E-5
2-215823169-A-G p.Ser1983Ser synonymous ABCA12 1 83150 1.20265E-5 41575 0 NA
2-215823186-G-A c.5940-8C>T splice_region ABCA12 1 83064 1.20389E-5 41532 0 3.98867E-6
2-215823740-C-A c.5939+8G>T splice_region ABCA12 1 82432 1.21312E-5 41216 0 NA
2-215823748-G-A p.Thr1980Ile missense+splice_region ABCA12 1 82478 1.21244E-5 41239 0 8.24063E-6
2-215823753-T-C p.Gln1978Gln synonymous ABCA12 1 82526 1.21174E-5 41263 0 NA
2-215823760-T-A p.Gln1976Leu missense ABCA12 2 82568 2.42225E-5 41284 0 5.03525E-4
2-215823762-G-A p.Asp1975Asp synonymous ABCA12 619 82550 0.00749849 41275 13 0.0143039
2-215823770-C-T p.Val1973Met missense ABCA12 1 82562 1.21121E-5 41281 0 NA
2-215823777-A-G p.Tyr1970Tyr synonymous ABCA12 1 82558 1.21127E-5 41279 0 8.24035E-6
2-215823783-A-T p.His1968Gln missense ABCA12 3 82574 3.63311E-5 41287 0 2.47235E-5
2-215823783-A-C p.His1968Gln missense ABCA12 1 82574 1.21103E-5 41287 0 NA
2-215823798-G-A p.Ile1963Ile synonymous ABCA12 6 82556 7.26779E-5 41278 0 4.12106E-5
2-215823809-G-A c.5885-7C>T splice_region ABCA12 1 82552 1.21136E-5 41276 0 3.98194E-6
2-215831587-C-T p.Asp1957Asn missense ABCA12 1 82944 1.20563E-5 41472 0 1.19442E-5
2-215831601-T-C p.Asn1952Ser missense ABCA12 1 82978 1.20514E-5 41489 0 3.18431E-5
2-215831603-A-T p.Val1951Val synonymous ABCA12 1 82974 1.2052E-5 41487 0 NA
2-215831605-C-T p.Val1951Ile missense ABCA12 3 82972 3.61568E-5 41486 0 4.3794E-5
2-215831615-G-T p.Phe1947Leu missense ABCA12 1 82950 1.20555E-5 41475 0 NA
2-215831644-G-A p.Pro1938Ser missense ABCA12 6 82824 7.24428E-5 41412 0 3.18471E-5
2-215831647-G-A p.Leu1937Phe missense ABCA12 1 82816 1.2075E-5 41408 0 NA
2-215831656-A-G p.Tyr1934His missense ABCA12 1 82726 1.20881E-5 41363 0 NA
2-215833449-C-A p.Ala1925Ser missense ABCA12 1 82954 1.20549E-5 41477 0 NA
2-215833453-T-C p.Thr1923Thr synonymous ABCA12 2 82980 2.41022E-5 41490 0 7.96622E-6
2-215833458-T-C p.Arg1922Gly missense ABCA12 3 83004 3.61428E-5 41502 0 4.77768E-4
2-215833475-G-A p.Thr1916Ile missense ABCA12 7 83026 8.43109E-5 41513 0 2.86843E-4
2-215833480-A-T p.Asp1914Glu missense ABCA12 1 83034 1.20433E-5 41517 0 NA
2-215833483-A-G p.Phe1913Phe synonymous ABCA12 4 83032 4.81742E-5 41516 0 3.30464E-5
2-215833487-C-T p.Arg1912His missense ABCA12 3 83012 3.61394E-5 41506 0 4.95712E-5
2-215833488-G-A p.Arg1912Cys missense ABCA12 2 83004 2.40952E-5 41502 0 6.25E-4
2-215833498-T-G p.Thr1908Thr synonymous ABCA12 1 83026 1.20444E-5 41513 0 NA
2-215833528-A-G p.Tyr1898Tyr synonymous ABCA12 2 82968 2.41057E-5 41484 0 NA
2-215833534-A-G c.5691-3T>C splice_region ABCA12 41 82904 4.94548E-4 41452 1 0.00101969
2-215834993-T-G c.5690+4A>C splice_region ABCA12 1 82734 1.20869E-5 41367 0 8.00634E-6
2-215835029-A-G p.Leu1886Leu synonymous ABCA12 6 83002 7.22874E-5 41501 0 5.8046E-5
2-215835034-A-G p.Tyr1885His missense ABCA12 2 83016 2.40917E-5 41508 0 3.18512E-5
2-215835045-C-T p.Arg1881Gln missense ABCA12 1 83046 1.20415E-5 41523 0 1.27429E-4
2-215835049-G-T p.Gln1880Lys missense ABCA12 2 83050 2.40819E-5 41525 0 3.98546E-6
2-215835059-G-T p.Asn1876Lys missense ABCA12 1 83066 1.20386E-5 41533 0 3.30753E-5
2-215835068-T-A p.Val1873Val synonymous ABCA12 126 83062 0.00151694 41531 3 0.00566289
2-215835070-C-T p.Val1873Ile missense ABCA12 271 83058 0.00326278 41529 2 0.00704935
2-215835074-G-A p.Ser1871Ser synonymous ABCA12 1 83048 1.20412E-5 41524 0 1.65319E-5
2-215835075-G-A p.Ser1871Phe missense ABCA12 1 83044 1.20418E-5 41522 0 8.26556E-6
2-215835077-T-TGA p.Ser1871fs frameshift ABCA12 1 83040 1.20424E-5 41520 0 NA
2-215835078-G-A p.Ser1870Leu missense ABCA12 2 83042 2.40842E-5 41521 0 6.37186E-5
2-215835080-G-A p.Tyr1869Tyr synonymous ABCA12 2 83038 2.40854E-5 41519 0 8.26487E-6
2-215835084-GTTC-G p.Arg1867del disruptive_inframe_deletion ABCA12 1 83034 1.20433E-5 41517 0 1.99229E-5
2-215835095-C-T p.Pro1864Pro synonymous ABCA12 3 83028 3.61324E-5 41514 0 6.37836E-5
2-215835096-G-A p.Pro1864Leu missense ABCA12 13 83036 1.56559E-4 41518 0 5.03525E-4
2-215835101-G-C p.Ser1862Ser synonymous ABCA12 1 83048 1.20412E-5 41524 0 NA
2-215835111-A-C p.Phe1859Cys missense ABCA12 2 83040 2.40848E-5 41520 0 2.48242E-5
2-215835130-A-G c.5563-6T>C splice_region ABCA12 1 82980 1.20511E-5 41490 0 7.58059E-5
2-215838675-G-A p.Gln1854* stop_gained ABCA12 1 83050 1.20409E-5 41525 0 NA
2-215838681-T-C p.Asn1852Asp missense ABCA12 1 83052 1.20406E-5 41526 0 NA
2-215838687-A-G p.Ser1850Pro missense ABCA12 4 83038 4.81707E-5 41519 0 9.55353E-5
2-215838693-A-G p.Ser1848Pro missense ABCA12 1 83048 1.20412E-5 41524 0 8.24661E-6
2-215838701-C-G p.Gly1845Ala missense ABCA12 1 83020 1.20453E-5 41510 0 NA
2-215838711-T-C p.Thr1842Ala missense ABCA12 1 83036 1.2043E-5 41518 0 1.59286E-5
2-215838725-C-T p.Ser1837Asn missense ABCA12 1 83000 1.20482E-5 41500 0 NA
2-215838735-A-G p.Trp1834Arg missense ABCA12 1 83010 1.20467E-5 41505 0 NA
2-215838740-T-C p.Glu1832Gly missense ABCA12 1 83004 1.20476E-5 41502 0 NA
2-215838746-CTGTCTT-C p.Lys1828_Asp1829del disruptive_inframe_deletion ABCA12 4 82982 4.82032E-5 41491 0 8.25355E-6
2-215838761-C-A p.Cys1825Phe missense ABCA12 1 82942 1.20566E-5 41471 0 NA
2-215839510-G-A p.Thr1820Thr synonymous ABCA12 3 83154 3.60776E-5 41577 0 2.47178E-5
2-215839522-C-T p.Met1816Ile missense ABCA12 3 83194 3.60603E-5 41597 0 6.5912E-5
2-215839525-G-A p.Asn1815Asn synonymous ABCA12 1 83196 1.20198E-5 41598 0 NA
2-215839543-G-A p.Asp1809Asp synonymous ABCA12 1 83214 1.20172E-5 41607 0 1.19364E-5
2-215839569-C-T p.Glu1801Lys missense ABCA12 2 83196 2.40396E-5 41598 0 NA
2-215839570-C-T p.Thr1800Thr synonymous ABCA12 4681 83092 0.0563351 41546 386 0.0894428
2-215839571-G-A p.Thr1800Met missense ABCA12 5 83182 6.01092E-5 41591 0 5.03525E-4
2-215839576-C-T p.Pro1798Pro synonymous ABCA12 1 83164 1.20244E-5 41582 0 7.95868E-6
2-215839577-G-A p.Pro1798Leu missense ABCA12 2 83160 2.405E-5 41580 0 1.64815E-4
2-215840505-T-C c.5381+4A>G splice_region ABCA12 2 82810 2.41517E-5 41405 0 1.64883E-5
2-215840509-G-A p.Ala1794Val missense+splice_region ABCA12 5 82844 6.03544E-5 41422 0 9.55718E-5
2-215840516-AGGCTGTCT-A p.Gln1789fs frameshift ABCA12 4 82936 4.823E-5 41468 1 1.31867E-4
2-215840527-T-TTA p.Glu1788fs frameshift ABCA12 4 83014 4.81846E-5 41507 1 1.31854E-4
2-215840528-C-T p.Glu1788Lys missense ABCA12 2 83022 2.409E-5 41511 0 8.24131E-6
2-215840529-G-A p.Ser1787Ser synonymous ABCA12 74 83040 8.91137E-4 41520 0 0.00245207
2-215840545-G-C p.Ser1782Cys missense ABCA12 1 83158 1.20253E-5 41579 0 1.19416E-5
2-215840547-G-C p.Pro1781Pro synonymous ABCA12 3 83166 3.60724E-5 41583 0 8.23995E-6
2-215840549-G-A p.Pro1781Ser missense ABCA12 1 83182 1.20218E-5 41591 0 NA
2-215840550-G-C p.Ser1780Ser synonymous ABCA12 1 83188 1.2021E-5 41594 0 NA
2-215840567-G-C p.Pro1775Ala missense ABCA12 1 83232 1.20146E-5 41616 0 3.18431E-5
2-215840598-A-G p.Leu1764Leu synonymous ABCA12 2 83280 2.40154E-5 41640 0 NA
2-215840600-G-A p.Leu1764Phe missense ABCA12 1 83284 1.20071E-5 41642 0 3.18451E-5
2-215840614-G-A p.Thr1759Ile missense ABCA12 2 83278 2.40159E-5 41639 0 NA
2-215840614-G-C p.Thr1759Ser missense ABCA12 1 83278 1.2008E-5 41639 0 NA
2-215840624-C-T p.Val1756Ile missense ABCA12 34 83280 4.08261E-4 41640 0 7.00905E-4
2-215840625-G-A p.Ile1755Ile synonymous ABCA12 1 83276 1.20083E-5 41638 0 2.3877E-5
2-215840626-A-G p.Ile1755Thr missense ABCA12 1 83268 1.20094E-5 41634 0 NA
2-215840668-C-T p.Arg1741His missense ABCA12 6 83226 7.20929E-5 41613 0 6.25E-4
2-215840669-G-A p.Arg1741Cys missense ABCA12 15 83234 1.80215E-4 41617 0 5.09781E-4
2-215840671-G-T p.Thr1740Asn missense ABCA12 1 83228 1.20152E-5 41614 0 3.29685E-5
2-215840676-G-T p.His1738Gln missense ABCA12 1 83218 1.20166E-5 41609 0 3.18634E-5
2-215840676-G-C p.His1738Gln missense ABCA12 1 83218 1.20166E-5 41609 0 1.64861E-5
2-215840682-C-T p.Arg1736Arg synonymous ABCA12 2 83186 2.40425E-5 41593 0 3.29772E-5
2-215840694-T-C p.Ile1732Met missense ABCA12 4 83162 4.80989E-5 41581 0 2.47398E-5
2-215840697-A-G p.Ala1731Ala synonymous ABCA12 1 83150 1.20265E-5 41575 0 NA
2-215840704-A-G p.Ile1729Thr missense ABCA12 2 83112 2.40639E-5 41556 0 3.18431E-5
2-215840706-C-T p.Lys1728Lys synonymous ABCA12 1 83110 1.20322E-5 41555 0 5.03525E-4
2-215840714-G-T p.Leu1726Met missense ABCA12 2 83064 2.40778E-5 41532 0 6.37064E-5
2-215840718-C-T p.Leu1724Leu synonymous ABCA12 1 83050 1.20409E-5 41525 0 8.25369E-6
2-215840722-C-T p.Gly1723Glu missense ABCA12 1 83040 1.20424E-5 41520 0 NA
2-215840731-T-C p.Asp1720Gly missense ABCA12 1 83008 1.2047E-5 41504 0 1.65328E-5
2-215840736-C-G p.Arg1718Ser missense ABCA12 2 83000 2.40964E-5 41500 0 NA
2-215840740-T-C p.Glu1717Gly missense ABCA12 2 82960 2.4108E-5 41480 0 NA
2-215840743-C-CTTTATGGTA p.Gly1716delinsValProTerArg stop_gained ABCA12 1 82964 1.20534E-5 41482 0 NA
2-215840747-T-G p.Arg1715Arg synonymous ABCA12 16 82924 1.92948E-4 41462 0 3.50318E-4
2-215840747-T-TCTTTA p.Arg1715fs frameshift ABCA12 1 82924 1.20592E-5 41462 0 NA
2-215840750-T-G p.Thr1714Pro missense ABCA12 1 82896 1.20633E-5 41448 0 NA
2-215840751-C-T p.Leu1713Leu synonymous ABCA12 1 82888 1.20645E-5 41444 0 NA
2-215843031-GA-G c.5128+8delT splice_region ABCA12 1 82436 1.21306E-5 41218 0 3.18512E-5
2-215843041-A-G p.Asp1709Asp splice_region+synonymous ABCA12 19 82558 2.30141E-4 41279 0 1.95309E-4
2-215843056-A-G p.Asn1704Asn synonymous ABCA12 9 82640 1.08906E-4 41320 0 2.48012E-5
2-215843060-C-G p.Ser1703Thr missense ABCA12 2 82642 2.42008E-5 41321 0 9.55231E-5
2-215843062-G-A p.Ser1702Ser synonymous ABCA12 5 82638 6.05049E-5 41319 0 7.43986E-5
2-215843073-A-G p.Ser1699Pro missense ABCA12 1 82666 1.20969E-5 41333 0 NA
2-215843075-A-G p.Leu1698Ser missense ABCA12 2 82668 2.41932E-5 41334 0 NA
2-215843079-CG-AT p.AspAsp1696GluTyr missense ABCA12 1 82656 1.20983E-5 41328 0 NA
2-215843079-C-T p.Asp1697Asn missense ABCA12 2 82656 2.41967E-5 41328 0 3.98543E-6
2-215843080-G-A p.Asp1696Asp synonymous ABCA12 1 82654 1.20986E-5 41327 0 3.3077E-5
2-215843080-G-C p.Asp1696Glu missense ABCA12 1 82654 1.20986E-5 41327 0 7.97067E-6
2-215843081-T-C p.Asp1696Gly missense ABCA12 1 82652 1.20989E-5 41326 0 3.98511E-6
2-215843082-C-T p.Asp1696Asn missense ABCA12 5 82672 6.048E-5 41336 0 5.03525E-4
2-215843084-G-T p.Pro1695His missense ABCA12 1 82672 1.2096E-5 41336 0 8.27061E-6
2-215843089-T-C p.Ser1693Ser synonymous ABCA12 2 82690 2.41867E-5 41345 0 1.65525E-5
2-215843092-G-C p.Ile1692Met missense ABCA12 1 82694 1.20928E-5 41347 0 3.1835E-5
2-215843097-C-T p.Gly1691Ser missense ABCA12 1 82714 1.20899E-5 41357 0 NA
2-215843099-T-C p.Asn1690Ser missense ABCA12 1 82714 1.20899E-5 41357 0 NA
2-215843104-A-C p.Asn1688Lys missense ABCA12 1 82714 1.20899E-5 41357 0 NA
2-215843117-A-G p.Ile1684Thr missense ABCA12 1 82724 1.20884E-5 41362 0 6.25E-4
2-215843122-C-A p.Lys1682Asn missense ABCA12 1 82714 1.20899E-5 41357 0 NA
2-215843134-G-C p.His1678Gln missense ABCA12 3 82658 3.62941E-5 41329 0 3.18471E-5
2-215843144-C-T p.Ser1675Asn missense ABCA12 2 82614 2.4209E-5 41307 0 NA
2-215843146-CAT-C p.Met1674fs frameshift ABCA12 2 82592 2.42154E-5 41296 0 3.99218E-6
2-215843147-A-ATAGCACTATTTT p.Lys1670_Ala1673dup conservative_inframe_insertion ABCA12 2 82584 2.42178E-5 41292 0 1.7094E-5
2-215843169-CTT-C p.Lys1666fs frameshift ABCA12 1 82412 1.21342E-5 41206 0 3.99882E-6
2-215843174-G-A p.Thr1665Ile missense ABCA12 2 82344 2.42884E-5 41172 0 4.80307E-5
2-215843175-T-C p.Thr1665Ala missense ABCA12 1 82338 1.21451E-5 41169 0 6.37024E-5
2-215843182-C-T p.Leu1662Leu synonymous ABCA12 1 82286 1.21527E-5 41143 0 NA
2-215843191-C-CTAGAAAGAGAAGCCAGATCACTTCATTAACATGAAAAGTGCATGTCTTTTCTCATTTCTAAGCTTACCT c.4978-2_4978-1insAGGTAAGCTTAGAAATGAGAAAAGACATGCACTTTTCATGTTAATGAAGTGATCTGGCTTCTCTTTCTA splice_acceptor ABCA12 4 82198 4.8663E-5 41099 0 1.59246E-4
2-215843522-G-A c.4977+6C>T splice_region ABCA12 4 78546 5.09256E-5 39273 0 2.8597E-4
2-215843536-C-T p.Val1657Met missense ABCA12 5 80032 6.2475E-5 40016 0 3.21105E-5
2-215843537-G-A p.Thr1656Thr synonymous ABCA12 3 80148 3.74308E-5 40074 0 1.65791E-5
2-215843555-G-A p.Tyr1650Tyr synonymous ABCA12 3 81152 3.69677E-5 40576 0 4.13565E-5
2-215843556-T-C p.Tyr1650Cys missense ABCA12 1 81240 1.23092E-5 40620 0 4.13469E-5
2-215843563-C-T p.Gly1648Arg missense ABCA12 3 81536 3.67936E-5 40768 0 3.59994E-5
2-215843564-G-A p.Ile1647Ile synonymous ABCA12 302 81574 0.00370216 40787 2 0.00694621
2-215843571-A-T p.Leu1645His missense ABCA12 1 81844 1.22184E-5 40922 0 8.25668E-6
2-215843575-C-G p.Asp1644His missense ABCA12 2 81910 2.4417E-5 40955 0 6.37146E-5
2-215843583-C-T p.Gly1641Asp missense ABCA12 1 82136 1.21749E-5 41068 0 2.14529E-4
2-215843586-T-C p.Asn1640Ser missense ABCA12 2 82190 2.43339E-5 41095 0 NA
2-215843591-G-A p.Leu1638Leu synonymous ABCA12 7 82262 8.5094E-5 41131 0 9.55718E-5
2-215843593-G-A p.Leu1638Phe missense ABCA12 5 82334 6.07283E-5 41167 0 NA
2-215843598-C-T p.Arg1636Gln missense ABCA12 1 82384 1.21383E-5 41192 0 5.77177E-5
2-215843599-G-A p.Arg1636Trp missense ABCA12 1 82426 1.21321E-5 41213 0 5.03525E-4
2-215843612-G-A p.Tyr1631Tyr synonymous ABCA12 2 82574 2.42207E-5 41287 0 8.24131E-6
2-215843615-G-C p.Ala1630Ala synonymous ABCA12 1 82614 1.21045E-5 41307 0 NA
2-215843617-C-T p.Ala1630Thr missense ABCA12 2 82602 2.42125E-5 41301 0 6.25E-4
2-215843650-C-T p.Val1619Ile missense ABCA12 1 83052 1.20406E-5 41526 0 NA
2-215843656-C-T p.Val1617Ile missense ABCA12 1 83074 1.20375E-5 41537 0 NA
2-215843675-C-T p.Glu1610Glu synonymous ABCA12 1 83122 1.20305E-5 41561 0 6.25E-4
2-215843680-T-C p.Lys1609Glu missense ABCA12 3 83128 3.60889E-5 41564 0 3.98051E-6
2-215843692-C-T p.Glu1605Lys missense ABCA12 6 83146 7.21622E-5 41573 0 6.25E-4
2-215843693-G-A p.Pro1604Pro synonymous ABCA12 7 83150 8.41852E-5 41575 0 4.94486E-5
2-215843701-G-A p.His1602Tyr missense ABCA12 3 83156 3.60768E-5 41578 0 3.97956E-6
2-215843703-G-A p.Ser1601Leu missense ABCA12 1 83158 1.20253E-5 41579 0 2.38783E-5
2-215843705-T-C p.Gln1600Gln synonymous ABCA12 1 83158 1.20253E-5 41579 0 8.24049E-6
2-215843707-G-A p.Gln1600* stop_gained ABCA12 6 83156 7.21535E-5 41578 0 NA
2-215843712-A-C p.Met1598Arg missense ABCA12 1 83156 1.20256E-5 41578 0 NA
2-215843715-G-A p.Ala1597Val missense ABCA12 1 83148 1.20267E-5 41574 0 2.54793E-4
2-215843722-C-T p.Val1595Met missense ABCA12 1 83116 1.20314E-5 41558 0 9.55657E-5
2-215843723-G-A p.Ala1594Ala synonymous ABCA12 17 83114 2.04538E-4 41557 0 2.23001E-4
2-215843730-G-A p.Thr1592Ile missense ABCA12 1 83076 1.20372E-5 41538 0 NA
2-215843732-G-A p.Asp1591Asp synonymous ABCA12 1 83070 1.2038E-5 41535 0 1.99111E-5
2-215845223-G-A p.Thr1575Met missense ABCA12 3 82444 3.63883E-5 41222 0 3.18654E-5
2-215845235-C-T p.Gly1571Glu missense ABCA12 2 82530 2.42336E-5 41265 0 NA
2-215845240-G-A p.Gly1569Gly synonymous ABCA12 20 82552 2.42272E-4 41276 0 6.25E-4
2-215845250-T-C p.Glu1566Gly missense ABCA12 1 82642 1.21004E-5 41321 0 NA
2-215845255-G-A p.Leu1564Leu synonymous ABCA12 36 82644 4.35603E-4 41322 0 9.8745E-4
2-215845258-G-A p.Tyr1563Tyr synonymous ABCA12 16 82640 1.93611E-4 41320 0 3.18512E-4
2-215845279-C-A p.Arg1556Ser missense ABCA12 1 82722 1.20887E-5 41361 0 NA
2-215845287-C-T p.Gly1554Arg missense ABCA12 9 82748 1.08764E-4 41374 0 8.24185E-6
2-215845289-C-T p.Gly1553Asp missense ABCA12 3 82754 3.6252E-5 41377 0 NA
2-215845290-C-A p.Gly1553Cys missense ABCA12 1 82762 1.20828E-5 41381 0 NA
2-215845292-T-C p.Gln1552Arg missense ABCA12 2 82764 2.41651E-5 41382 0 1.5934E-5
2-215845305-C-T p.Ala1548Thr missense ABCA12 1 82778 1.20805E-5 41389 0 3.18654E-5
2-215845306-G-A p.Ile1547Ile synonymous ABCA12 3 82790 3.62363E-5 41395 0 0.00100705
2-215845307-A-G p.Ile1547Thr missense ABCA12 2 82794 2.41563E-5 41397 0 3.18613E-5
2-215845309-G-A p.Arg1546Arg synonymous ABCA12 1 82782 1.20799E-5 41391 0 NA
2-215845311-G-A p.Arg1546Cys missense ABCA12 8 82798 9.66207E-5 41399 0 1.73059E-4
2-215845320-G-A p.Leu1543Leu synonymous ABCA12 1 82848 1.20703E-5 41424 0 8.24063E-6
2-215845329-C-A p.Ala1540Ser missense ABCA12 12 82886 1.44777E-4 41443 0 0.00151057
2-215845330-CTCG-C p.Asp1538del disruptive_inframe_deletion ABCA12 1 82892 1.20639E-5 41446 0 NA
2-215845333-G-A p.Asp1538Asp synonymous ABCA12 14 82886 1.68907E-4 41443 0 0.00125
2-215845346-G-A p.Thr1534Met missense ABCA12 1 82896 1.20633E-5 41448 0 1.19449E-5
2-215845354-A-C p.Ile1531Met missense ABCA12 5 82906 6.03093E-5 41453 0 8.24321E-6
2-215845367-G-C p.Ala1527Gly missense+splice_region ABCA12 1 82842 1.20712E-5 41421 0 NA
2-215846903-A-G c.4579+8T>C splice_region ABCA12 1 82064 1.21856E-5 41032 0 3.59144E-5
2-215846936-C-A p.Trp1518Cys missense ABCA12 2 82776 2.41616E-5 41388 0 2.47566E-5
2-215846946-C-T p.Arg1515Gln missense ABCA12 3 82876 3.61987E-5 41438 0 1.64929E-5
2-215846957-T-G p.Pro1511Pro synonymous ABCA12 10 82966 1.20531E-4 41483 0 1.99022E-5
2-215846957-T-C p.Pro1511Pro synonymous ABCA12 8 82966 9.6425E-5 41483 0 1.64864E-5
2-215846959-G-A p.Pro1511Ser missense ABCA12 1 82960 1.2054E-5 41480 0 NA
2-215846995-C-G p.Val1499Leu missense ABCA12 1 83078 1.20369E-5 41539 0 NA
2-215847001-A-G p.Ser1497Pro missense ABCA12 1 83094 1.20346E-5 41547 0 3.97966E-6
2-215847009-A-G p.Ile1494Thr missense ABCA12 1 83090 1.20351E-5 41545 0 6.37389E-5
2-215847011-G-A p.Leu1493Leu synonymous ABCA12 2 83082 2.40726E-5 41541 0 NA
2-215847075-C-T p.Arg1472His missense ABCA12 3 82910 3.61838E-5 41455 0 9.56267E-5
2-215847079-G-C p.His1471Asp missense ABCA12 1 82882 1.20653E-5 41441 0 3.18674E-5
2-215847083-A-G p.Tyr1469Tyr synonymous ABCA12 2 82868 2.41348E-5 41434 0 NA
2-215847092-A-G p.Thr1466Thr synonymous ABCA12 1 82802 1.2077E-5 41401 0 6.25E-4
2-215847094-T-C p.Thr1466Ala missense ABCA12 1 82784 1.20796E-5 41392 0 NA
2-215847096-T-A p.Asp1465Val missense ABCA12 2 82764 2.41651E-5 41382 0 NA
2-215847098-T-C p.Lys1464Lys synonymous ABCA12 7 82746 8.45962E-5 41373 0 3.29908E-5
2-215847113-A-G c.4383-6T>C splice_region ABCA12 8 82366 9.71275E-5 41183 0 NA
2-215848369-G-A c.4382+2C>T splice_donor ABCA12 3 83130 3.60881E-5 41565 0 3.18451E-5
2-215848385-G-A p.His1456His synonymous ABCA12 125 83126 0.00150374 41563 1 0.00312301
2-215848385-G-C p.His1456Gln missense ABCA12 1 83126 1.20299E-5 41563 0 NA
2-215848386-T-A p.His1456Leu missense ABCA12 3 83138 3.60846E-5 41569 0 4.37699E-5
2-215848399-T-C p.Lys1452Glu missense ABCA12 1 83140 1.20279E-5 41570 0 3.97899E-6
2-215848403-C-G p.Trp1450Cys missense ABCA12 1 83132 1.20291E-5 41566 0 NA
2-215848416-T-G p.Lys1446Thr missense ABCA12 1 83102 1.20334E-5 41551 0 NA
2-215848420-T-C p.Ile1445Val missense ABCA12 2 83098 2.4068E-5 41549 0 3.18634E-5
2-215848421-G-A p.Ser1444Ser synonymous ABCA12 1 83100 1.20337E-5 41550 0 3.97924E-6
2-215848443-T-C p.Glu1437Gly missense ABCA12 2 83128 2.40593E-5 41564 0 NA
2-215848455-A-G p.Leu1433Pro missense ABCA12 1 83164 1.20244E-5 41582 0 NA
2-215848469-G-C p.Val1428Val synonymous ABCA12 1 83174 1.2023E-5 41587 0 3.97896E-6
2-215848471-C-T p.Val1428Ile missense ABCA12 2 83178 2.40448E-5 41589 0 3.97877E-6
2-215848475-G-A p.His1426His synonymous ABCA12 1 83188 1.2021E-5 41594 0 1.64739E-5
2-215848494-A-G p.Met1420Thr missense ABCA12 4 83194 4.80804E-5 41597 0 3.18654E-5
2-215848503-C-T p.Arg1417Gln missense ABCA12 23 83198 2.76449E-4 41599 0 6.05173E-4
2-215848504-G-A p.Arg1417Trp missense ABCA12 8 83196 9.61585E-5 41598 0 5.03525E-4
2-215848508-C-T p.Thr1415Thr synonymous ABCA12 2 83206 2.40367E-5 41603 0 1.64756E-5
2-215848509-G-A p.Thr1415Met missense ABCA12 1 83204 1.20187E-5 41602 0 2.38722E-5
2-215848513-G-A p.His1414Tyr missense ABCA12 1 83218 1.20166E-5 41609 0 8.23791E-6
2-215848526-G-A p.Ile1409Ile synonymous ABCA12 1 83206 1.20184E-5 41603 0 NA
2-215848528-T-C p.Ile1409Val missense ABCA12 633 83188 0.00760927 41594 7 0.00564556
2-215848531-C-G p.Asp1408His missense ABCA12 1 83164 1.20244E-5 41582 0 NA
2-215848541-T-C p.Val1404Val synonymous ABCA12 1 83112 1.2032E-5 41556 0 1.98999E-5
2-215848543-C-CA p.Val1404fs frameshift ABCA12 2 83092 2.40697E-5 41546 1 NA
2-215848585-T-C p.Met1390Val missense ABCA12 2 82770 2.41633E-5 41385 0 3.18654E-5
2-215848589-A-C p.Ile1388Met missense+splice_region ABCA12 1 82716 1.20896E-5 41358 0 1.68501E-5
2-215851290-T-C p.Asn1380Ser missense ABCA12 2 83200 2.40385E-5 41600 0 7.42035E-5
2-215851303-A-G p.Leu1376Leu synonymous ABCA12 13085 83004 0.157643 41502 1359 0.25252
2-215851304-T-C p.Ser1375Ser synonymous ABCA12 1 83212 1.20175E-5 41606 0 3.18654E-5
2-215851305-G-A p.Ser1375Leu missense ABCA12 1 83214 1.20172E-5 41607 0 3.18674E-5
2-215851325-A-G p.Phe1368Phe synonymous ABCA12 1 83206 1.20184E-5 41603 0 4.94486E-5
2-215851337-G-T p.Leu1364Leu synonymous ABCA12 1 83202 1.20189E-5 41601 0 NA
2-215851339-G-C p.Leu1364Val missense ABCA12 2 83202 2.40379E-5 41601 0 NA
2-215851347-A-G p.Val1361Ala missense ABCA12 4 83194 4.80804E-5 41597 0 9.88973E-5
2-215851364-A-G p.Tyr1355Tyr synonymous ABCA12 2 83186 2.40425E-5 41593 0 1.27364E-4
2-215851365-T-C p.Tyr1355Cys missense ABCA12 1 83186 1.20213E-5 41593 0 5.03525E-4
2-215851369-T-C p.Ile1354Val missense ABCA12 1 83182 1.20218E-5 41591 0 NA
2-215851374-G-A p.Thr1352Ile missense ABCA12 1 83162 1.20247E-5 41581 0 3.97867E-6
2-215851379-C-A p.Gly1350Gly synonymous ABCA12 2 83156 2.40512E-5 41578 0 NA
2-215851384-G-A p.His1349Tyr missense ABCA12 1 83152 1.20262E-5 41576 0 3.97861E-6
2-215851393-C-T p.Val1346Ile missense ABCA12 1 83156 1.20256E-5 41578 0 NA
2-215851396-C-T p.Gly1345Arg missense ABCA12 1 83148 1.20267E-5 41574 0 8.24103E-6
2-215851397-G-A p.Val1344Val synonymous ABCA12 2 83146 2.40541E-5 41573 0 3.29652E-5
2-215851404-A-T p.Leu1342His missense ABCA12 2 83106 2.40657E-5 41553 0 NA
2-215851407-T-A p.Asp1341Val missense ABCA12 1 83102 1.20334E-5 41551 0 3.97921E-6
2-215851411-T-C p.Lys1340Glu missense ABCA12 1 83092 1.20349E-5 41546 0 NA
2-215851424-G-A p.Ile1335Ile synonymous ABCA12 1 83064 1.20389E-5 41532 0 3.18613E-5
2-215851426-T-A p.Ile1335Phe missense ABCA12 2 83062 2.40784E-5 41531 0 8.24688E-6
2-215851433-G-A p.Ser1332Ser synonymous ABCA12 1 83032 1.20435E-5 41516 0 NA
2-215851436-A-G p.Phe1331Phe synonymous ABCA12 1 83024 1.20447E-5 41512 0 NA
2-215851440-A-G p.Met1330Thr missense ABCA12 1 82998 1.20485E-5 41499 0 0.00100806
2-215851456-G-A c.3977-4C>T splice_region ABCA12 6 82844 7.24253E-5 41422 0 1.98699E-4
2-215852364-G-A c.3976+7C>T splice_region ABCA12 1 82830 1.20729E-5 41415 0 8.29256E-6
2-215852378-T-C p.Pro1323Pro synonymous ABCA12 1 82960 1.2054E-5 41480 0 NA
2-215852391-T-C p.Gln1319Arg missense ABCA12 1 83012 1.20465E-5 41506 0 NA
2-215852398-T-C p.Met1317Val missense ABCA12 51 83028 6.14251E-4 41514 0 0.00105102
2-215852417-G-A p.Gly1310Gly synonymous ABCA12 41 83058 4.93631E-4 41529 0 0.00252016
2-215852421-T-C p.Asn1309Ser missense ABCA12 5 83052 6.02032E-5 41526 0 0.00100806
2-215852423-G-T p.Ser1308Arg missense ABCA12 1 83046 1.20415E-5 41523 0 3.18552E-5
2-215852428-T-C p.Lys1307Glu missense ABCA12 1 83030 1.20438E-5 41515 0 NA
2-215852429-C-T p.Glu1306Glu synonymous ABCA12 2 83032 2.40871E-5 41516 0 NA
2-215852429-C-G p.Glu1306Asp missense ABCA12 2 83032 2.40871E-5 41516 0 3.31433E-5
2-215852452-C-T p.Gly1299Arg missense ABCA12 2 82988 2.40999E-5 41494 0 5.03525E-4
2-215852457-C-T p.Arg1297Gln missense ABCA12 1 82978 1.20514E-5 41489 0 1.19471E-5
2-215852469-T-C p.Tyr1293Cys missense ABCA12 1 82984 1.20505E-5 41492 0 4.38139E-5
2-215852509-C-G p.Gly1280Arg missense ABCA12 6 83002 7.22874E-5 41501 0 6.37227E-5
2-215852509-C-T p.Gly1280Ser missense ABCA12 1 83002 1.20479E-5 41501 0 1.99604E-5
2-215852510-G-A p.Tyr1279Tyr synonymous ABCA12 1 83010 1.20467E-5 41505 0 3.18695E-5
2-215852514-G-A p.Thr1278Ile missense ABCA12 2 82992 2.40987E-5 41496 0 8.86336E-6
2-215852516-C-A p.Gly1277Gly splice_region+synonymous ABCA12 4 82972 4.8209E-5 41486 0 NA
2-215852521-G-T c.3830-4C>A splice_region ABCA12 1 82944 1.20563E-5 41472 0 4.00757E-6
2-215854046-T-G c.3829+7A>C splice_region ABCA12 1 82970 1.20525E-5 41485 0 6.25E-4
2-215854057-G-C p.Phe1275Leu missense ABCA12 4 83068 4.81533E-5 41534 0 1.19411E-5
2-215854066-C-T p.Arg1272Arg synonymous ABCA12 4 83118 4.81244E-5 41559 0 1.19402E-5
2-215854068-T-G p.Arg1272Arg synonymous ABCA12 1 83138 1.20282E-5 41569 0 NA
2-215854069-G-A p.Val1271Val synonymous ABCA12 2 83146 2.40541E-5 41573 0 NA
2-215854088-A-T p.Phe1265Tyr missense ABCA12 1 83242 1.20132E-5 41621 0 NA
2-215854094-A-C p.Ile1263Ser missense ABCA12 18 83256 2.16201E-4 41628 0 0.00125
2-215854104-C-T p.Asp1260Asn missense ABCA12 1 83280 1.20077E-5 41640 0 NA
2-215854117-A-G p.Cys1255Cys synonymous ABCA12 1 83308 1.20036E-5 41654 0 NA
2-215854119-A-G p.Cys1255Arg missense ABCA12 1 83312 1.20031E-5 41656 0 NA
2-215854138-G-A p.Thr1248Thr synonymous ABCA12 1 83330 1.20005E-5 41665 0 NA
2-215854156-C-T p.Pro1242Pro synonymous ABCA12 6452 83240 0.0775108 41620 306 0.120342
2-215854156-CG-TA p.Pro1242Leu missense ABCA12 1 83348 1.19979E-5 41674 0 NA
2-215854156-C-A p.Pro1242Pro synonymous ABCA12 1 83348 1.19979E-5 41674 0 NA
2-215854157-G-A p.Pro1242Leu missense ABCA12 2 83350 2.39952E-5 41675 0 3.57901E-5
2-215854165-G-A p.Tyr1239Tyr synonymous ABCA12 1 83356 1.19967E-5 41678 0 NA
2-215854169-A-C p.Met1238Arg missense ABCA12 1 83356 1.19967E-5 41678 0 8.23737E-6
2-215854181-T-C p.Gln1234Arg missense ABCA12 1 83354 1.1997E-5 41677 0 3.29489E-5
2-215854191-A-T c.3695-4T>A splice_region ABCA12 1 83334 1.19999E-5 41667 0 NA
2-215854193-A-G c.3695-6T>C splice_region ABCA12 2 83336 2.39992E-5 41668 0 3.19959E-5
2-215854277-A-G p.Ile1231Ile splice_region+synonymous ABCA12 1 83234 1.20143E-5 41617 0 NA
2-215854288-C-G p.Glu1228Gln missense ABCA12 1 83202 1.20189E-5 41601 0 NA
2-215854292-G-A p.Tyr1226Tyr synonymous ABCA12 73 83158 8.77847E-4 41579 0 0.00162462
2-215854296-C-T p.Arg1225Gln missense ABCA12 2 83148 2.40535E-5 41574 0 3.18593E-5
2-215854296-C-G p.Arg1225Pro missense ABCA12 1 83148 1.20267E-5 41574 0 NA
2-215854307-T-C p.Gln1221Gln synonymous ABCA12 1 83136 1.20285E-5 41568 0 3.98137E-6
2-215854308-T-C p.Gln1221Arg missense ABCA12 2 83130 2.40587E-5 41565 0 NA
2-215854315-C-A p.Ala1219Ser missense ABCA12 1 82980 1.20511E-5 41490 0 4.24665E-5
2-215854329-G-T p.Thr1214Lys missense ABCA12 1 82976 1.20517E-5 41488 0 NA
2-215854330-T-C p.Thr1214Ala missense ABCA12 2 82966 2.41063E-5 41483 0 NA
2-215854336-A-T p.Ser1212Thr missense ABCA12 7 82882 8.44574E-5 41441 0 2.39987E-5
2-215854338-A-G p.Leu1211Pro missense ABCA12 1 82902 1.20624E-5 41451 0 3.1841E-5
2-215854348-G-A c.3625-3C>T splice_region ABCA12 2 82820 2.41488E-5 41410 0 1.19823E-5
2-215855427-A-G p.Met1208Thr missense+splice_region ABCA12 3 83252 3.60352E-5 41626 0 5.03525E-4
2-215855430-A-G p.Phe1207Ser missense ABCA12 2 83258 2.40217E-5 41629 0 NA
2-215855431-A-G p.Phe1207Leu missense ABCA12 2 83252 2.40234E-5 41626 0 7.95779E-6
2-215855433-A-G p.Val1206Ala missense ABCA12 1 83250 1.2012E-5 41625 0 8.25409E-6
2-215855438-C-T p.Leu1204Leu synonymous ABCA12 1 83266 1.20097E-5 41633 0 NA
2-215855483-T-C p.Pro1189Pro synonymous ABCA12 1 83278 1.2008E-5 41639 0 8.24063E-6
2-215855496-A-G p.Ile1185Thr missense ABCA12 4 83288 4.80261E-5 41644 0 NA
2-215855506-T-C p.Ile1182Val missense ABCA12 2 83284 2.40142E-5 41642 0 6.3678E-5
2-215855508-A-T p.Leu1181His missense ABCA12 1 83290 1.20062E-5 41645 0 NA
2-215855518-T-C p.Ile1178Val missense ABCA12 2 83298 2.40102E-5 41649 0 NA
2-215855528-A-G p.Ile1174Ile synonymous ABCA12 1 83306 1.20039E-5 41653 0 4.37546E-5
2-215855558-A-G p.Leu1164Leu synonymous ABCA12 1 83326 1.20011E-5 41663 0 NA
2-215855569-T-A p.Met1161Leu missense ABCA12 123 83330 0.00147606 41665 0 0.006875
2-215855578-C-T p.Val1158Ile missense ABCA12 1 83322 1.20016E-5 41661 0 NA
2-215855584-A-G p.Phe1156Leu missense ABCA12 1 83308 1.20036E-5 41654 0 8.23845E-6
2-215855594-C-T p.Ser1152Ser synonymous ABCA12 1 83306 1.20039E-5 41653 0 3.97795E-6
2-215855601-T-C p.Tyr1150Cys missense ABCA12 3 83282 3.60222E-5 41641 0 8.23845E-6
2-215855603-C-T p.Leu1149Leu synonymous ABCA12 3 83284 3.60213E-5 41642 1 5.7672E-5
2-215855606-G-A p.Phe1148Phe synonymous ABCA12 1 83278 1.2008E-5 41639 0 3.97807E-6
2-215855618-C-G p.Gly1144Gly synonymous ABCA12 14 83246 1.68176E-4 41623 0 3.18735E-5
2-215855623-T-G p.Asn1143His missense ABCA12 1 83236 1.2014E-5 41618 0 7.95659E-6
2-215855627-T-TTGTTTG p.Lys1141delinsAsnLysGln disruptive_inframe_insertion ABCA12 1 83218 1.20166E-5 41609 0 NA
2-215855628-T-TGTTTGTTTG p.Lys1141delinsThrAsnLysGln conservative_inframe_insertion ABCA12 1 83212 1.20175E-5 41606 0 NA
2-215855630-A-T p.Pro1140Pro synonymous ABCA12 1 83196 1.20198E-5 41598 0 NA
2-215855646-A-G p.Phe1135Ser missense ABCA12 1 83130 1.20294E-5 41565 0 NA
2-215855650-T-C p.Lys1134Glu missense ABCA12 4 83114 4.81267E-5 41557 0 7.96014E-6
2-215855660-G-T p.Ile1130Ile synonymous ABCA12 1 83054 1.20404E-5 41527 0 1.19437E-5
2-215855670-A-C p.Val1127Gly missense ABCA12 1 82942 1.20566E-5 41471 0 NA
2-215855671-C-T p.Val1127Met missense ABCA12 2 82918 2.41202E-5 41459 0 0.0020141
2-215855672-G-A p.Ile1126Ile synonymous ABCA12 4 82902 4.82497E-5 41451 0 1.65684E-5
2-215855674-T-G p.Ile1126Leu missense ABCA12 7 82896 8.44432E-5 41448 0 3.18471E-5
2-215855676-G-A p.Thr1125Ile missense ABCA12 1 82868 1.20674E-5 41434 0 NA
2-215855684-T-TG p.Leu1122fs frameshift ABCA12 1 82700 1.20919E-5 41350 0 NA
2-215855690-T-C p.Gly1120Gly synonymous ABCA12 18 82572 2.17992E-4 41286 0 4.46087E-4
2-215855696-A-T p.Ser1118Arg missense ABCA12 1 82438 1.21303E-5 41219 0 NA
2-215855696-A-G p.Ser1118Ser synonymous ABCA12 1 82438 1.21303E-5 41219 0 NA
2-215855717-G-A p.Phe1111Phe synonymous ABCA12 2 81848 2.44355E-5 40924 0 4.00564E-6
2-215855723-G-A p.Ser1109Ser synonymous ABCA12 2 81552 2.45242E-5 40776 0 3.18431E-5
2-215855748-T-A p.Lys1101Met missense ABCA12 1 79988 1.25019E-5 39994 0 NA
2-215862429-C-T p.Arg1095Gln missense ABCA12 3 82568 3.63337E-5 41284 0 8.259E-6
2-215862430-G-A p.Arg1095Trp missense ABCA12 1 82594 1.21074E-5 41297 0 6.37592E-5
2-215862437-T-C p.Lys1092Lys synonymous ABCA12 29 82692 3.50699E-4 41346 0 5.03525E-4
2-215862442-CA-C p.Tyr1090fs frameshift ABCA12 2 82702 2.41832E-5 41351 0 8.25205E-6
2-215862449-A-C p.Leu1088Leu synonymous ABCA12 7 82772 8.45697E-5 41386 0 2.22902E-4
2-215862452-C-G p.Lys1087Asn missense ABCA12 1 82772 1.20814E-5 41386 0 NA
2-215862458-T-C p.Val1085Val synonymous ABCA12 1 82778 1.20805E-5 41389 0 3.98E-6
2-215862460-C-T p.Val1085Ile missense ABCA12 1 82776 1.20808E-5 41388 0 1.64995E-5
2-215862465-G-C p.Ala1083Gly missense ABCA12 5 82770 6.04084E-5 41385 0 6.37836E-5
2-215862471-A-G p.Ile1081Thr missense ABCA12 2 82766 2.41645E-5 41383 0 NA
2-215862486-G-A p.Ala1076Val missense ABCA12 1 82772 1.20814E-5 41386 0 3.98111E-6
2-215862512-A-G p.Tyr1067Tyr synonymous ABCA12 1 82608 1.21054E-5 41304 0 0.00100705
2-215862524-G-A p.Thr1063Thr synonymous ABCA12 1 82442 1.21297E-5 41221 0 3.18695E-5
2-215865470-G-A p.Val1046Val synonymous ABCA12 4 82492 4.84895E-5 41246 0 NA
2-215865471-ACTG-A p.Ala1045del disruptive_inframe_deletion ABCA12 2 82488 2.4246E-5 41244 0 NA
2-215865472-C-A p.Val1046Phe missense ABCA12 1 82522 1.2118E-5 41261 0 NA
2-215865477-A-G p.Ile1044Thr missense ABCA12 1 82576 1.21101E-5 41288 0 NA
2-215865496-C-T p.Gly1038Arg missense ABCA12 1 82768 1.2082E-5 41384 0 NA
2-215865498-G-T p.Thr1037Asn missense ABCA12 2 82788 2.41581E-5 41394 0 3.18512E-5
2-215865530-A-G p.Asp1026Asp synonymous ABCA12 1 83102 1.20334E-5 41551 0 NA
2-215865530-A-C p.Asp1026Glu missense ABCA12 1 83102 1.20334E-5 41551 0 8.2394E-6
2-215865531-T-C p.Asp1026Gly missense ABCA12 1 83116 1.20314E-5 41558 0 3.98019E-6
2-215865554-G-T p.Gly1018Gly synonymous ABCA12 2 83268 2.40188E-5 41634 0 NA
2-215865567-T-C p.Asn1014Ser missense ABCA12 1 83300 1.20048E-5 41650 0 8.2375E-6
2-215865575-T-C p.Pro1011Pro synonymous ABCA12 18376 83108 0.22111 41554 2264 0.235343
2-215865578-A-G p.Ser1010Ser synonymous ABCA12 1 83304 1.20042E-5 41652 0 NA
2-215865582-T-C p.Asn1009Ser missense ABCA12 4 83312 4.80123E-5 41656 0 8.23764E-6
2-215865591-C-T p.Gly1006Glu missense ABCA12 3 83310 3.60101E-5 41655 0 2.38688E-5
2-215865598-C-G p.Ala1004Pro missense ABCA12 1 83320 1.20019E-5 41660 0 NA
2-215865634-C-A p.Ala992Ser missense ABCA12 1 83290 1.20062E-5 41645 0 NA
2-215865635-G-A p.Thr991Thr synonymous ABCA12 2 83302 2.4009E-5 41651 0 1.19394E-5
2-215865636-G-A p.Thr991Ile missense ABCA12 2 83304 2.40085E-5 41652 0 NA
2-215865640-T-C p.Lys990Glu missense ABCA12 3 83288 3.60196E-5 41644 0 NA
2-215865650-C-A p.Arg986Arg synonymous ABCA12 3 83272 3.60265E-5 41636 0 NA
2-215865651-C-T p.Arg986Gln missense ABCA12 3 83260 3.60317E-5 41630 0 3.18431E-5
2-215865652-G-A p.Arg986Trp missense ABCA12 1 83256 1.20111E-5 41628 0 1.64859E-5
2-215865659-A-G p.Tyr983Tyr synonymous ABCA12 1 83224 1.20158E-5 41612 0 3.13237E-4
2-215865660-T-C p.Tyr983Cys missense ABCA12 5 83222 6.00803E-5 41611 0 NA
2-215865663-T-G p.Lys982Thr missense ABCA12 38 83214 4.56654E-4 41607 0 0.00251762
2-215865663-T-A p.Lys982Ile missense ABCA12 1 83216 1.20169E-5 41608 0 8.24416E-6
2-215865666-A-G p.Ile981Thr missense ABCA12 1 83192 1.20204E-5 41596 0 1.64908E-5
2-215865670-C-T p.Val980Ile missense ABCA12 1 83168 1.20239E-5 41584 0 3.98327E-6
2-215865675-G-A p.Pro978Leu missense ABCA12 1 83124 1.20302E-5 41562 0 NA
2-215865684-A-G p.Val975Ala missense ABCA12 2 83052 2.40813E-5 41526 0 NA
2-215865699-T-C p.Tyr970Cys missense ABCA12 1 82890 1.20642E-5 41445 0 NA
2-215865707-G-C p.His967Gln missense ABCA12 6 82774 7.24865E-5 41387 0 3.98762E-6
2-215865715-T-C p.Ser965Gly missense ABCA12 1 82658 1.2098E-5 41329 0 NA
2-215865717-C-CATGAAAGACAAGTAAG p.Arg964fs frameshift ABCA12 1 82636 1.21013E-5 41318 0 NA
2-215865720-T-C p.Asn963Ser missense ABCA12 1 82562 1.21121E-5 41281 0 NA
2-215865726-G-T p.Pro961His missense ABCA12 1 82432 1.21312E-5 41216 0 NA
2-215865727-G-A p.Pro961Ser missense ABCA12 1 82392 1.21371E-5 41196 0 3.99939E-6
2-215865731-C-T p.Lys959Lys synonymous ABCA12 1 82260 1.21566E-5 41130 0 NA
2-215865740-A-C p.Val956Val synonymous ABCA12 180 81914 0.00219743 40957 1 0.00222958
2-215865742-C-T p.Val956Ile missense+splice_region ABCA12 1 81824 1.22214E-5 40912 0 6.37186E-5
2-215865750-A-T c.2864-6T>A splice_region ABCA12 3 81534 3.67945E-5 40767 0 6.4364E-5
2-215866278-T-C c.2863+4A>G splice_region ABCA12 1 83046 1.20415E-5 41523 0 NA
2-215866282-T-A p.Ser955Cys missense+splice_region ABCA12 1 83074 1.20375E-5 41537 0 NA
2-215866286-A-G p.Phe953Phe synonymous ABCA12 1 83080 1.20366E-5 41540 0 NA
2-215866292-T-C p.Glu951Glu synonymous ABCA12 1 83084 1.2036E-5 41542 0 NA
2-215866294-C-T p.Glu951Lys missense ABCA12 3 83088 3.61063E-5 41544 0 2.38789E-5
2-215866295-G-A p.Asn950Asn synonymous ABCA12 3 83094 3.61037E-5 41547 0 9.88794E-5
2-215866298-G-A p.Ser949Ser synonymous ABCA12 1 83102 1.20334E-5 41551 0 NA
2-215866326-T-A p.Glu940Val missense ABCA12 3 83112 3.60959E-5 41556 0 0.00151057
2-215866331-T-C p.Glu938Glu synonymous ABCA12 8 83116 9.6251E-5 41558 0 1.81261E-4
2-215866349-T-C p.Ala932Ala synonymous ABCA12 2 83102 2.40668E-5 41551 0 8.23927E-6
2-215866359-C-T p.Arg929His missense ABCA12 1 83104 1.20331E-5 41552 0 1.99016E-5
2-215866360-G-A p.Arg929Cys missense ABCA12 2 83104 2.40662E-5 41552 0 0.00125
2-215866372-C-T p.Val925Ile missense ABCA12 1 83074 1.20375E-5 41537 0 2.23029E-4
2-215866398-G-A p.Ser916Phe missense ABCA12 1 83040 1.20424E-5 41520 0 NA
2-215866401-G-A p.Ser915Phe missense ABCA12 6 83048 7.22474E-5 41524 0 9.55171E-5
2-215866403-T-C p.Leu914Leu synonymous ABCA12 6 83050 7.22456E-5 41525 0 5.03525E-4
2-215866420-C-T p.Asp909Asn missense ABCA12 3 82958 3.61629E-5 41479 0 6.37618E-5
2-215866421-G-A p.Ile908Ile synonymous ABCA12 1 82974 1.2052E-5 41487 0 5.18069E-5
2-215866424-G-GATGTCA p.Ile907_Ile908insAspIle disruptive_inframe_insertion ABCA12 1 82976 1.20517E-5 41488 0 NA
2-215866431-ATGT-A p.Asn904del disruptive_inframe_deletion ABCA12 2 82938 2.41144E-5 41469 0 3.1835E-5
2-215866455-A-G p.Leu897Pro missense ABCA12 1 82720 1.2089E-5 41360 0 3.18431E-5
2-215866459-T-A p.Ile896Phe missense+splice_region ABCA12 1 82678 1.20951E-5 41339 0 5.03525E-4
2-215868963-C-G p.Val885Leu missense ABCA12 1 82422 1.21327E-5 41211 0 NA
2-215868974-C-G p.Gly881Ala missense ABCA12 1 82240 1.21595E-5 41120 0 NA
2-215868978-C-G p.Val880Leu missense ABCA12 25 82160 3.04284E-4 41080 0 6.68705E-4
2-215868978-C-T p.Val880Met missense ABCA12 5 82160 6.08569E-5 41080 0 4.79398E-5
2-215868979-G-A p.Ser879Ser synonymous ABCA12 1 82136 1.21749E-5 41068 0 3.1837E-5
2-215869008-G-C p.Pro870Ala missense ABCA12 1 81228 1.2311E-5 40614 0 NA
2-215869012-C-T p.Arg868Arg synonymous ABCA12 2 81034 2.4681E-5 40517 0 3.62007E-5
2-215872444-C-T c.2592+7G>A splice_region ABCA12 1 82946 1.2056E-5 41473 0 1.23587E-4
2-215872445-T-G c.2592+6A>C splice_region ABCA12 6 82948 7.23345E-5 41474 0 6.36862E-5
2-215872448-T-C c.2592+3A>G splice_region ABCA12 3 82950 3.61664E-5 41475 0 1.19401E-5
2-215872459-T-C p.Met862Val missense ABCA12 1 82972 1.20523E-5 41486 0 3.1835E-5
2-215872459-T-A p.Met862Leu missense ABCA12 1 82972 1.20523E-5 41486 0 NA
2-215872466-T-G p.Ala859Ala synonymous ABCA12 1 82990 1.20496E-5 41495 0 2.38779E-5
2-215872468-C-T p.Ala859Thr missense ABCA12 1 82992 1.20494E-5 41496 0 NA
2-215872478-C-A p.Leu855Leu synonymous ABCA12 1 83036 1.2043E-5 41518 0 NA
2-215872484-G-A p.Phe853Phe synonymous ABCA12 3 83042 3.61263E-5 41521 0 3.9795E-6
2-215872494-A-T p.Met850Lys missense ABCA12 1 83048 1.20412E-5 41524 0 6.3674E-5
2-215872499-A-C p.Leu848Leu synonymous ABCA12 1 83052 1.20406E-5 41526 0 NA
2-215872505-C-T p.Ser846Ser synonymous ABCA12 7 83046 8.42906E-5 41523 0 5.96991E-5
2-215872506-G-A p.Ser846Leu missense ABCA12 1 83032 1.20435E-5 41516 0 8.24144E-6
2-215872506-G-C p.Ser846Trp missense ABCA12 1 83034 1.20433E-5 41517 0 NA
2-215872516-T-C p.Met843Val missense ABCA12 1 83048 1.20412E-5 41524 0 NA
2-215872518-C-A p.Trp842Leu missense ABCA12 1 83044 1.20418E-5 41522 0 NA
2-215872521-T-G p.Glu841Ala missense ABCA12 1 83044 1.20418E-5 41522 0 NA
2-215872524-T-C p.Gln840Arg missense ABCA12 1 83030 1.20438E-5 41515 0 3.97975E-6
2-215872534-C-T p.Glu837Lys missense ABCA12 1 83020 1.20453E-5 41510 0 NA
2-215872544-C-T p.Ala833Ala synonymous ABCA12 9 82994 1.08442E-4 41497 0 3.70191E-4
2-215872545-G-A p.Ala833Val missense ABCA12 5 82996 6.02439E-5 41498 0 3.58275E-5
2-215872548-A-G p.Leu832Pro missense ABCA12 1 83000 1.20482E-5 41500 0 3.98051E-6
2-215872553-T-C p.Arg830Arg synonymous ABCA12 1 82982 1.20508E-5 41491 0 NA
2-215872564-C-T p.Val827Ile missense ABCA12 1 82980 1.20511E-5 41490 0 3.18431E-5
2-215872569-G-A p.Ser825Phe missense+splice_region ABCA12 1 82946 1.2056E-5 41473 0 3.1841E-5
2-215872576-T-C c.2473-6A>G splice_region ABCA12 2 82916 2.41208E-5 41458 0 0.003125
2-215875051-A-G c.2472+4T>C splice_region ABCA12 1 83076 1.20372E-5 41538 0 NA
2-215875066-T-C p.Ile821Val missense ABCA12 1 83124 1.20302E-5 41562 0 0.00125
2-215875082-G-T p.Asn815Lys missense ABCA12 1 83170 1.20236E-5 41585 0 8.2447E-6
2-215875086-T-C p.Tyr814Cys missense ABCA12 3 83164 3.60733E-5 41582 0 NA
2-215875091-T-C p.Ala812Ala synonymous ABCA12 1 83162 1.20247E-5 41581 0 NA
2-215875099-A-T p.Leu810Met missense ABCA12 1 83170 1.20236E-5 41585 0 3.97966E-6
2-215875110-A-C p.Leu806Trp missense ABCA12 1 83158 1.20253E-5 41579 0 8.24511E-6
2-215875116-A-G p.Met804Thr missense ABCA12 1 83148 1.20267E-5 41574 0 7.96007E-6
2-215875117-T-C p.Met804Val missense ABCA12 1 83148 1.20267E-5 41574 0 NA
2-215875127-G-A p.Phe800Phe synonymous ABCA12 1 83144 1.20273E-5 41572 0 1.6497E-5
2-215875141-C-T p.Val796Met missense ABCA12 1 83112 1.2032E-5 41556 0 NA
2-215875143-G-A p.Pro795Leu missense ABCA12 1 83110 1.20322E-5 41555 0 1.19457E-5
2-215875150-C-T p.Ala793Thr missense ABCA12 1 83100 1.20337E-5 41550 0 5.03525E-4
2-215875161-A-AT p.Ile789fs frameshift ABCA12 1 83064 1.20389E-5 41532 0 NA
2-215875164-A-G p.Ile788Thr missense ABCA12 1 83054 1.20404E-5 41527 0 NA
2-215875177-G-A p.Leu784Phe missense ABCA12 1 82970 1.20525E-5 41485 0 NA
2-215875184-G-T p.Cys781* stop_gained ABCA12 2 82906 2.41237E-5 41453 0 NA
2-215875190-T-A p.Pro779Pro synonymous ABCA12 7 82838 8.45023E-5 41419 0 1.91327E-4
2-215875190-T-C p.Pro779Pro synonymous ABCA12 1 82838 1.20718E-5 41419 0 NA
2-215876163-T-C p.Thr778Ala missense+splice_region ABCA12 12 81626 1.47012E-4 40813 0 NA
2-215876165-G-A p.Ser777Phe missense+splice_region ABCA12 50 81660 6.12295E-4 40830 0 0.00151362
2-215876166-A-T p.Ser777Thr missense ABCA12 43834 43898 0.998542 21949 21886 1.0
2-215876191-A-G p.Ala768Ala synonymous ABCA12 2 82314 2.42972E-5 41157 0 1.65651E-5
2-215876200-C-T p.Glu765Glu synonymous ABCA12 722 82538 0.00874749 41269 25 0.0182837
2-215876213-T-C p.Lys761Arg missense ABCA12 2 82784 2.41593E-5 41392 0 2.48073E-5
2-215876215-A-G p.Tyr760Tyr synonymous ABCA12 1 82788 1.2079E-5 41394 0 3.18573E-5
2-215876228-T-A p.Asp756Val missense ABCA12 9 82926 1.0853E-4 41463 0 6.60677E-5
2-215876230-C-T p.Lys755Lys synonymous ABCA12 1 82948 1.20557E-5 41474 0 NA
2-215876243-C-T p.Gly751Asp missense ABCA12 1 83042 1.20421E-5 41521 0 7.96223E-6
2-215876244-CT-C p.Gly751fs frameshift ABCA12 2 83054 2.40807E-5 41527 0 NA
2-215876252-C-T p.Arg748Lys missense ABCA12 2 83094 2.40691E-5 41547 0 2.47325E-5
2-215876269-C-A p.Met742Ile missense ABCA12 4 83128 4.81186E-5 41564 0 9.56328E-5
2-215876270-A-G p.Met742Thr missense ABCA12 2 83138 2.40564E-5 41569 0 8.23981E-6
2-215876286-C-T p.Glu737Lys missense ABCA12 47 83160 5.65176E-4 41580 1 0.0020141
2-215876300-T-G p.Gln732Pro missense ABCA12 1 83170 1.20236E-5 41585 0 8.2375E-6
2-215876301-G-A p.Gln732* stop_gained ABCA12 2 83178 2.40448E-5 41589 0 NA
2-215876310-A-G p.Leu729Leu synonymous ABCA12 54 83176 6.49226E-4 41588 0 5.09278E-4
2-215876314-T-C p.Gln727Gln synonymous ABCA12 1 83174 1.2023E-5 41587 0 7.95792E-6
2-215876318-G-T p.Ser726Tyr missense ABCA12 5 83186 6.01063E-5 41593 0 5.03525E-4
2-215876332-T-C p.Ser721Ser synonymous ABCA12 4 83182 4.80873E-5 41591 0 NA
2-215876334-A-G p.Ser721Pro missense ABCA12 1 83176 1.20227E-5 41588 0 3.9789E-6
2-215876338-T-A p.Gln719His missense ABCA12 1 83158 1.20253E-5 41579 0 NA
2-215876344-T-G p.Thr717Thr synonymous ABCA12 7 83156 8.41791E-5 41578 0 1.9118E-4
2-215876354-C-T p.Arg714Gln missense ABCA12 5 83142 6.01381E-5 41571 0 3.18939E-5
2-215876355-G-A p.Arg714* stop_gained ABCA12 1 83130 1.20294E-5 41565 0 1.6475E-5
2-215876355-G-T p.Arg714Arg synonymous ABCA12 1 83130 1.20294E-5 41565 0 3.97969E-6
2-215876356-G-A p.Asn713Asn synonymous ABCA12 10 83132 1.20291E-4 41566 0 2.96545E-4
2-215876357-T-C p.Asn713Ser missense ABCA12 1 83130 1.20294E-5 41565 0 NA
2-215876359-G-A p.Ser712Ser synonymous ABCA12 1 83126 1.20299E-5 41563 0 3.18959E-5
2-215876366-T-C p.Tyr710Cys missense ABCA12 2 83096 2.40685E-5 41548 0 8.23764E-6
2-215876369-A-G p.Met709Thr missense ABCA12 1 83086 1.20357E-5 41543 0 0.00125
2-215876371-T-C p.Ala708Ala splice_region+synonymous ABCA12 14933 82454 0.181107 41227 2312 0.273414
2-215876697-G-C p.Gln707Glu missense+splice_region ABCA12 1 83204 1.20187E-5 41602 0 8.23683E-6
2-215876704-T-C p.Pro704Pro synonymous ABCA12 2 83210 2.40356E-5 41605 0 1.59591E-4
2-215876706-G-C p.Pro704Ala missense ABCA12 1 83212 1.20175E-5 41606 0 NA
2-215876714-CTGGG-TTTGC p.ProArg700AlaLys missense ABCA12 1 83194 1.20201E-5 41597 0 NA
2-215876730-G-T p.Gln696Lys missense ABCA12 1 83210 1.20178E-5 41605 0 3.19407E-5
2-215876731-C-CCACTTTAATTAGTGAAGT p.Lys695_Gln696insLeuHisTerLeuLysTrp stop_gained ABCA12 1 83206 1.20184E-5 41603 0 NA
2-215876738-G-T p.Ser693Tyr missense ABCA12 51 83206 6.12937E-4 41603 0 0.00125
2-215876758-C-T p.Pro686Pro synonymous ABCA12 1 83154 1.20259E-5 41577 0 2.38732E-5
2-215876759-G-A p.Pro686Leu missense ABCA12 5 83162 6.01236E-5 41581 0 1.19363E-5
2-215876775-C-T p.Ala681Thr missense ABCA12 1 83174 1.2023E-5 41587 0 3.19468E-5
2-215876783-T-C p.Asn678Ser missense ABCA12 137 83150 0.00164762 41575 0 0.00108439
2-215876790-T-C p.Ile676Val missense ABCA12 2 83158 2.40506E-5 41579 0 NA
2-215876797-T-C p.Leu673Leu synonymous ABCA12 1 83140 1.20279E-5 41570 0 3.9789E-6
2-215876825-T-C p.Glu664Gly missense ABCA12 1 83056 1.20401E-5 41528 0 3.18796E-5
2-215876833-C-T p.Lys661Lys synonymous ABCA12 2 83000 2.40964E-5 41500 0 NA
2-215876848-C-T p.Pro656Pro synonymous ABCA12 3 82866 3.6203E-5 41433 0 3.29592E-5
2-215876849-G-A p.Pro656Leu missense ABCA12 9 82878 1.08593E-4 41439 0 0.00125156
2-215876851-G-A p.Phe655Phe synonymous ABCA12 2 82868 2.41348E-5 41434 0 0.00100806
2-215876854-A-G p.Phe654Phe synonymous ABCA12 1 82876 1.20662E-5 41438 0 3.98194E-6
2-215876857-C-T p.Val653Val splice_region+synonymous ABCA12 2 82856 2.41383E-5 41428 0 3.98302E-6
2-215876859-C-T p.Val653Met missense+splice_region ABCA12 1 82830 1.20729E-5 41415 0 NA
2-215880214-C-G p.Lys652Asn missense+splice_region ABCA12 1 83178 1.20224E-5 41589 0 NA
2-215880227-T-C p.Asn648Ser missense ABCA12 1 83218 1.20166E-5 41609 0 8.38715E-6
2-215880247-C-G p.Leu641Leu synonymous ABCA12 511 83250 0.00613814 41625 3 0.00436125
2-215880257-A-ATTAGAAAAAAGGG p.Leu638fs frameshift ABCA12 1 83254 1.20114E-5 41627 0 NA
2-215880261-C-T p.Gly637Arg missense ABCA12 1 83258 1.20109E-5 41629 0 2.4893E-5
2-215880264-T-A p.Ile636Phe missense ABCA12 1 83280 1.20077E-5 41640 0 6.25E-4
2-215880265-G-A p.Leu635Leu synonymous ABCA12 1 83276 1.20083E-5 41638 0 NA
2-215880269-T-C p.Tyr634Cys missense ABCA12 1 83270 1.20091E-5 41635 0 NA
2-215880278-C-T p.Arg631Gln missense ABCA12 209 83268 0.00250997 41634 5 0.0066933
2-215880279-G-A p.Arg631Trp missense ABCA12 4 83260 4.80423E-5 41630 0 6.37024E-5