Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-25275611-A-G p.Ter405Argext*? stop_lost ABHD12 1 83306 1.20039E-5 41653 0 NA
20-25275612-C-T p.Val404Val synonymous ABHD12 1 83306 1.20039E-5 41653 0 NA
20-25275617-G-A p.Leu403Leu synonymous ABHD12 1063 83302 0.0127608 41651 31 0.023341
20-25275618-C-T p.Glu402Glu synonymous ABHD12 2 83322 2.40033E-5 41661 0 3.29598E-5
20-25275621-T-C p.Ser401Ser synonymous ABHD12 4137 83238 0.0497009 41619 110 0.0775428
20-25275623-A-G p.Ser401Pro missense ABHD12 1 83326 1.20011E-5 41663 0 NA
20-25275624-C-T p.Trp400* stop_gained ABHD12 1 83326 1.20011E-5 41663 0 8.23968E-6
20-25275631-C-A p.Ser398Ile missense ABHD12 1 83334 1.19999E-5 41667 0 NA
20-25275642-G-C p.Ser394Arg missense ABHD12 1 83346 1.19982E-5 41673 0 1.64796E-5
20-25275649-C-A p.Gly392Val missense ABHD12 1 83344 1.19985E-5 41672 0 3.97636E-6
20-25275658-T-G p.Gln389Pro missense ABHD12 3 83344 3.59954E-5 41672 0 1.19291E-5
20-25275662-G-A p.Gln388* stop_gained ABHD12 1 83340 1.1999E-5 41670 0 3.18451E-5
20-25275666-T-A p.Arg386Ser missense+splice_region ABHD12 1 83332 1.20002E-5 41666 0 3.97655E-6
20-25275673-TAAAG-T c.1158-11_1158-8delCTTT splice_region ABHD12 3 83322 3.60049E-5 41661 0 8.24049E-6
20-25275674-A-G c.1158-8T>C splice_region ABHD12 1 83318 1.20022E-5 41659 0 7.95412E-6
20-25281332-C-T c.*146+3G>A splice_region ABHD12 1 75194 1.32989E-5 37597 0 NA
20-25281333-G-A c.*146+2C>T splice_donor ABHD12 25734 68888 0.373563 34444 4256 0.469683
20-25281334-C-A c.*146+1G>T splice_donor ABHD12 1 75634 1.32216E-5 37817 0 3.18532E-5
20-25281337-G-T c.*144C>A splice_region ABHD12 1 76286 1.31086E-5 38143 0 NA
20-25281483-A-G p.Ter399Argext*? stop_lost ABHD12 1 82600 1.21065E-5 41300 0 1.67445E-5
20-25281484-G-C p.His398Gln missense ABHD12 2 82604 2.42119E-5 41302 0 NA
20-25281488-T-C p.Gln397Arg missense ABHD12 5 82614 6.05224E-5 41307 0 1.60511E-5
20-25281489-G-A p.Gln397* stop_gained ABHD12 6 82612 7.26287E-5 41306 0 0.00253036
20-25281493-C-T p.Glu395Glu synonymous ABHD12 1 82582 1.21092E-5 41291 0 3.18451E-5
20-25281502-C-T p.Ser392Ser synonymous ABHD12 54 82506 6.54498E-4 41253 1 0.00375
20-25281503-G-T p.Ser392* stop_gained ABHD12 1 82494 1.21221E-5 41247 0 4.01413E-6
20-25281503-G-A p.Ser392Leu missense ABHD12 4 82494 4.84884E-5 41247 0 6.02119E-5
20-25281507-T-TC p.Lys391fs frameshift ABHD12 2 82470 2.42512E-5 41235 0 6.37105E-5
20-25281527-C-G c.1158-7G>C splice_region ABHD12 1 82118 1.21776E-5 41059 0 NA
20-25282847-T-G c.1157+8A>C splice_region ABHD12 1 83064 1.20389E-5 41532 0 3.97788E-6
20-25282852-C-T c.1157+3G>A splice_region ABHD12 7 83122 8.42136E-5 41561 0 6.25E-4
20-25282855-C-T p.Arg386Lys missense+splice_region ABHD12 1 83146 1.2027E-5 41573 0 NA
20-25282856-T-G p.Arg386Arg splice_region+synonymous ABHD12 1 83154 1.20259E-5 41577 0 8.2496E-6
20-25282857-C-T p.Leu385Leu splice_region+synonymous ABHD12 1 83160 1.2025E-5 41580 0 NA
20-25282864-C-T p.Arg383Gln missense ABHD12 16 83176 1.92363E-4 41588 0 2.54826E-4
20-25282864-C-G p.Arg383Pro missense ABHD12 1 83176 1.20227E-5 41588 0 5.07099E-4
20-25282868-G-A p.Pro382Ser missense ABHD12 3 83190 3.6062E-5 41595 0 NA
20-25282871-G-A p.Leu381Leu synonymous ABHD12 62 83220 7.45013E-4 41610 0 0.00200675
20-25282872-C-T p.Glu380Glu synonymous ABHD12 2 83210 2.40356E-5 41605 0 NA
20-25282882-TTGTAAA-T p.Ile375_Tyr376del disruptive_inframe_deletion ABHD12 2 83260 2.40211E-5 41630 0 NA
20-25282899-C-T p.Arg371Arg synonymous ABHD12 59 83252 7.08692E-4 41626 0 0.0020202
20-25282901-T-G p.Arg371Arg synonymous ABHD12 1 83250 1.2012E-5 41625 0 8.24226E-6
20-25282920-A-G p.Phe364Phe synonymous ABHD12 2 83246 2.40252E-5 41623 0 3.97674E-6
20-25282933-T-C p.Gln360Arg missense ABHD12 1 83230 1.20149E-5 41615 0 1.98851E-5
20-25282936-AC-A p.Val359fs frameshift ABHD12 2 83214 2.40344E-5 41607 0 1.64826E-5
20-25282941-G-A p.Phe357Phe synonymous ABHD12 2 83190 2.40414E-5 41595 0 3.97719E-6
20-25282944-A-G p.Asp356Asp synonymous ABHD12 34969 82548 0.42362 41274 7522 0.476813
20-25282948-C-T p.Arg355Gln missense ABHD12 2 83154 2.40518E-5 41577 0 2.38641E-5
20-25282949-G-C p.Arg355Gly missense ABHD12 1 83168 1.20239E-5 41584 0 NA
20-25282957-C-T p.Arg352Gln missense ABHD12 1 83118 1.20311E-5 41559 0 1.19338E-5
20-25282965-TGCG-T p.Ala349del disruptive_inframe_deletion ABHD12 1 83088 1.20354E-5 41544 0 NA
20-25282967-C-T p.Ala349Thr missense ABHD12 4256 82956 0.0513043 41478 128 0.0445344
20-25282968-G-A p.Ala348Ala synonymous ABHD12 8 83058 9.63182E-5 41529 0 1.27397E-4
20-25282970-C-T p.Ala348Thr missense ABHD12 6 83028 7.22648E-5 41514 0 7.42182E-5
20-25282971-G-A p.Ile347Ile synonymous ABHD12 53 83028 6.38339E-4 41514 0 4.45888E-4
20-25282987-GGA-G c.1030-7_1030-6delTC splice_region ABHD12 3 82866 3.6203E-5 41433 0 3.1839E-5
20-25282990-G-C c.1030-8C>G splice_region ABHD12 1 82800 1.20773E-5 41400 0 NA
20-25282990-G-A c.1030-8C>T splice_region ABHD12 3 82800 3.62319E-5 41400 0 NA
20-25283900-CCT-C c.*32_*33delAG splice_region ABHD12 290 33472 0.00866396 16736 11 0.0357143
20-25283938-A-AG p.Ile194fs frameshift ABHD12 15096 35764 0.4221 17882 3302 0.634615
20-25283966-T-C p.Arg185Gly missense ABHD12 2 38698 5.16823E-5 19349 0 NA
20-25283968-C-T p.Gly184Asp missense ABHD12 1 38904 2.57043E-5 19452 0 NA
20-25283969-C-T p.Gly184Ser missense ABHD12 15 39114 3.83494E-4 19557 0 0.00215054
20-25283975-C-G p.Gly182Arg missense ABHD12 154 39720 0.00387714 19860 1 0.0218855
20-25283981-A-T p.Cys180Ser missense ABHD12 1 40550 2.46609E-5 20275 0 9.26767E-6
20-25283990-C-G p.Glu177Gln missense ABHD12 38 42126 9.02056E-4 21063 0 0.00288462
20-25283998-C-T p.Arg174Lys missense ABHD12 29 44220 6.55812E-4 22110 0 0.00124172
20-25284002-C-T p.Gly173Arg missense ABHD12 8 45132 1.77258E-4 22566 0 3.24465E-4
20-25284003-G-A p.Phe172Phe synonymous ABHD12 18 45654 3.9427E-4 22827 0 8.59599E-4
20-25284004-A-C p.Phe172Cys missense ABHD12 6 46334 1.29495E-4 23167 0 5.09652E-4
20-25284022-G-A p.Ala166Val missense ABHD12 2 50970 3.92388E-5 25485 0 4.45746E-4
20-25284030-G-A p.Ile163Ile synonymous ABHD12 2 53478 3.73986E-5 26739 0 NA
20-25284046-G-A p.Ser158Leu missense ABHD12 3 57512 5.2163E-5 28756 0 7.90264E-5
20-25284054-C-T p.Thr155Thr synonymous ABHD12 4 59550 6.71704E-5 29775 0 6.36862E-5
20-25284063-T-G p.Ala152Ala synonymous ABHD12 4 60646 6.59565E-5 30323 0 0.00477383
20-25284066-G-A p.Cys151Cys synonymous ABHD12 1 61150 1.63532E-5 30575 0 6.37227E-5
20-25284073-G-A p.Thr149Met missense ABHD12 2 64700 3.09119E-5 32350 0 1.25078E-4
20-25284077-T-C p.Ile148Val missense ABHD12 2 66630 3.00165E-5 33315 0 1.92207E-5
20-25284083-A-T p.Cys146Ser missense ABHD12 1 68588 1.45798E-5 34294 0 1.07112E-4
20-25284094-G-A p.Ala142Val missense ABHD12 2 71388 2.80159E-5 35694 0 NA
20-25284097-T-A p.Lys141Met missense ABHD12 1 72588 1.37764E-5 36294 0 1.61688E-5
20-25284101-C-T p.Gly140Arg missense ABHD12 17 73392 2.31633E-4 36696 0 5.73577E-4
20-25284117-G-A p.Gly134Gly synonymous ABHD12 2 76914 2.60031E-5 38457 0 2.36407E-5
20-25284119-C-T p.Gly134Ser missense ABHD12 1 77338 1.29303E-5 38669 0 8.94366E-6
20-25284124-C-A p.Gly132Val missense ABHD12 2792 77688 0.0359386 38844 82 0.0653705
20-25284134-T-C p.Ser129Gly missense ABHD12 1 78840 1.26839E-5 39420 0 NA
20-25284139-G-A p.Ser127Leu missense ABHD12 1 79532 1.25736E-5 39766 0 NA
20-25284140-A-T p.Ser127Thr missense ABHD12 1 79560 1.25691E-5 39780 0 NA
20-25284144-T-C p.Ala125Ala synonymous ABHD12 3 79920 3.75375E-5 39960 0 0.00125
20-25284154-C-T p.Trp122* stop_gained ABHD12 1 80632 1.2402E-5 40316 0 NA
20-25284165-G-A p.Leu118Leu synonymous ABHD12 2 81292 2.46027E-5 40646 0 4.039E-6
20-25284165-G-C p.Leu118Leu synonymous ABHD12 2 81292 2.46027E-5 40646 0 3.18512E-5
20-25284175-C-T p.Gly115Asp missense ABHD12 1 81564 1.22603E-5 40782 0 2.75832E-5
20-25284176-C-G p.Gly115Arg missense ABHD12 3 81658 3.67386E-5 40829 0 1.91144E-4
20-25284178-G-A p.Pro114Leu missense ABHD12 1 81694 1.22408E-5 40847 0 3.62214E-5
20-25284197-G-A p.Leu340Phe missense ABHD12 3 82100 3.65408E-5 41050 0 3.44685E-5
20-25284215-G-A p.Pro334Ser missense ABHD12 1 82290 1.21521E-5 41145 0 8.48781E-6
20-25284222-C-G p.Glu331Asp missense ABHD12 1 82342 1.21445E-5 41171 0 NA
20-25284225-A-G p.Ala330Ala synonymous ABHD12 2 82378 2.42783E-5 41189 0 5.04032E-4
20-25284227-C-T p.Ala330Thr missense ABHD12 7 82346 8.50072E-5 41173 0 9.55779E-5
20-25284228-G-A p.His329His synonymous ABHD12 2 82366 2.42819E-5 41183 0 0.00100806
20-25284229-TG-T p.His329fs frameshift ABHD12 1 82368 1.21406E-5 41184 0 NA
20-25284232-A-G p.Leu328Pro missense ABHD12 1 82372 1.214E-5 41186 0 8.44609E-6
20-25284240-C-T p.Leu325Leu synonymous ABHD12 1 82298 1.2151E-5 41149 0 1.68893E-5
20-25284248-A-G p.Cys323Arg missense ABHD12 3 82228 3.64839E-5 41114 0 6.37105E-5
20-25284255-G-A p.His320His synonymous ABHD12 31 82206 3.77101E-4 41103 0 0.00100806
20-25284263-C-T p.Val318Met missense+splice_region ABHD12 7 81986 8.53804E-5 40993 0 6.25E-4
20-25284264-G-GTTTT c.951-1_951insAAAA splice_acceptor ABHD12 2 81904 2.44188E-5 40952 0 NA
20-25284270-G-A c.951-6C>T splice_region ABHD12 1 81726 1.2236E-5 40863 0 NA
20-25284271-G-T c.951-7C>A splice_region ABHD12 1 81670 1.22444E-5 40835 0 NA
20-25287507-A-G p.Pro304Pro synonymous ABHD12 1 82782 1.20799E-5 41391 0 8.49892E-6
20-25287524-A-G p.Trp299Arg missense ABHD12 1 82822 1.20741E-5 41411 0 NA
20-25287535-G-A p.Pro295Leu missense ABHD12 1 82760 1.20831E-5 41380 0 NA
20-25287549-T-C p.Ile290Met missense+splice_region ABHD12 9 82496 1.09096E-4 41248 0 3.18431E-5
20-25287552-C-CACTGAAAATGGATGGCTCTTAGCTTCTTCACGGATATTAGTGAA c.868-2_868-1insTTCACTAATATCCGTGAAGAAGCTAAGAGCCATCCATTTTCAGT splice_acceptor ABHD12 3 82562 3.63363E-5 41281 1 NA
20-25287555-G-T c.868-4C>A splice_region ABHD12 1 82466 1.21262E-5 41233 0 1.28105E-4
20-25288600-G-A c.867+2C>T splice_donor ABHD12 3 81992 3.65889E-5 40996 0 NA
20-25288602-C-T p.Val289Val splice_region+synonymous ABHD12 1 82090 1.21818E-5 41045 0 NA
20-25288611-T-G p.Pro286Pro synonymous ABHD12 14 82300 1.70109E-4 41150 0 0.00100806
20-25288611-T-C p.Pro286Pro synonymous ABHD12 1 82300 1.21507E-5 41150 0 NA
20-25288613-G-C p.Pro286Ala missense ABHD12 1 82358 1.21421E-5 41179 0 3.9821E-6
20-25288620-C-T p.Lys283Lys synonymous ABHD12 2 82454 2.42559E-5 41227 0 NA
20-25288625-C-T p.Ala282Thr missense ABHD12 1 82488 1.2123E-5 41244 0 NA
20-25288629-T-C p.Glu280Glu synonymous ABHD12 1 82498 1.21215E-5 41249 0 NA
20-25288632-G-A p.Arg279Arg synonymous ABHD12 39132 80390 0.486777 40195 9997 0.515625
20-25288633-C-T p.Arg279His missense ABHD12 2 82498 2.4243E-5 41249 0 7.42967E-5
20-25288634-G-A p.Arg279Cys missense ABHD12 4 82496 4.84872E-5 41248 0 9.08085E-5
20-25288643-T-C p.Thr276Ala missense ABHD12 1 82552 1.21136E-5 41276 0 6.36983E-5
20-25288665-G-A p.Ala268Ala synonymous ABHD12 2 82478 2.42489E-5 41239 0 3.30207E-5
20-25288667-C-A p.Ala268Ser missense ABHD12 7 82394 8.49576E-5 41197 0 2.42637E-4
20-25288677-C-A p.Thr264Thr synonymous ABHD12 3 82194 3.6499E-5 41097 0 3.97836E-6
20-25288678-G-A p.Thr264Met missense ABHD12 1 82130 1.21758E-5 41065 0 6.25E-4
20-25288681-T-C p.Glu263Gly missense+splice_region ABHD12 1 82110 1.21788E-5 41055 0 NA
20-25288682-CTAGA-C c.788-5_788-2delTCTA splice_acceptor ABHD12 2 82072 2.43688E-5 41036 0 NA
20-25288683-T-TCGCTCACAGAGGCGCCGCACCAGATTTGTCGCCACGCCAGTGCCCAGAGAGTGGCCCC c.788-3_788-2insGGGGCCACTCTCTGGGCACTGGCGTGGCGACAAATCTGGTGCGGCGCCTCTGTGAGCG splice_region ABHD12 2 82028 2.43819E-5 41014 1 NA
20-25288687-TAAAC-T c.788-10_788-7delGTTT splice_region ABHD12 63 81820 7.69983E-4 40910 0 0.00162576
20-25288689-A-G c.788-8T>C splice_region ABHD12 1 81736 1.22345E-5 40868 0 1.19377E-5
20-25289090-C-T c.787+3G>A splice_region ABHD12 30 82176 3.6507E-4 41088 0 0.0025
20-25289095-C-T p.Arg262Gln missense+splice_region ABHD12 1 82256 1.21572E-5 41128 0 1.22188E-5
20-25289096-G-A p.Arg262* stop_gained ABHD12 1 82272 1.21548E-5 41136 0 4.39126E-5
20-25289097-C-T p.Glu261Glu synonymous ABHD12 1 82310 1.21492E-5 41155 0 NA
20-25289097-C-A p.Glu261Asp missense ABHD12 1 82310 1.21492E-5 41155 0 3.18532E-5
20-25289107-C-T p.Arg258His missense ABHD12 2 82348 2.42872E-5 41174 0 2.22133E-5
20-25289107-C-G p.Arg258Pro missense ABHD12 1 82348 1.21436E-5 41174 0 NA
20-25289111-G-A p.Arg257Trp missense ABHD12 82 82388 9.95291E-4 41194 0 0.00148983
20-25289122-G-C p.Thr253Arg missense ABHD12 1 82452 1.21283E-5 41226 0 5.81801E-5
20-25289125-G-A p.Ala252Val missense ABHD12 1 82442 1.21297E-5 41221 0 3.18573E-5
20-25289130-G-T p.Gly250Gly splice_region+synonymous ABHD12 1 82388 1.21377E-5 41194 0 NA
20-25289130-G-A p.Gly250Gly splice_region+synonymous ABHD12 2 82388 2.42754E-5 41194 0 1.22381E-5
20-25289135-GA-G c.750-6delT splice_region ABHD12 1 82344 1.21442E-5 41172 0 NA
20-25289136-A-G c.750-6T>C splice_region ABHD12 1 82336 1.21454E-5 41168 0 NA
20-25289137-A-G c.750-7T>C splice_region ABHD12 1 82340 1.21448E-5 41170 0 1.27698E-5
20-25290084-A-T p.Thr249Thr splice_region+synonymous ABHD12 1 83172 1.20233E-5 41586 0 NA
20-25290086-T-C p.Thr249Ala missense ABHD12 2 83158 2.40506E-5 41579 0 1.64935E-5
20-25290090-C-T p.Leu247Leu synonymous ABHD12 1 83170 1.20236E-5 41585 0 1.19343E-5
20-25290105-G-A p.Ile242Ile synonymous ABHD12 5 83206 6.00918E-5 41603 0 9.54616E-5
20-25290113-C-T p.Val240Met missense ABHD12 5 83188 6.01048E-5 41594 0 2.63861E-4
20-25290122-C-T p.Asp237Asn missense ABHD12 5 83196 6.0099E-5 41598 0 1.98874E-5
20-25290123-A-C p.Gly236Gly synonymous ABHD12 2 83184 2.40431E-5 41592 0 NA
20-25290124-C-A p.Gly236Val missense ABHD12 1 83202 1.20189E-5 41601 0 8.24593E-6
20-25290135-T-C p.Lys187Lys splice_region+synonymous ABHD12 1 83200 1.20192E-5 41600 0 3.97753E-6
20-25290152-C-T p.Val227Ile missense ABHD12 1 83178 1.20224E-5 41589 0 6.25E-4
20-25290153-G-A p.His226His synonymous ABHD12 1 83190 1.20207E-5 41595 0 4.94935E-5
20-25290162-G-A p.Asp223Asp synonymous ABHD12 3 83150 3.60794E-5 41575 0 6.25E-4
20-25290175-C-T p.Gly219Asp missense ABHD12 2 83090 2.40703E-5 41545 0 0.00100705
20-25290178-C-G p.Arg218Pro missense ABHD12 5 83050 6.02047E-5 41525 0 NA
20-25290178-C-T p.Arg218Gln missense ABHD12 1 83050 1.20409E-5 41525 0 1.19377E-5
20-25290179-G-A p.Arg218Trp missense ABHD12 1 83058 1.20398E-5 41529 0 8.25518E-6
20-25290181-T-TCA p.Glu217fs frameshift ABHD12 1 83028 1.20441E-5 41514 0 NA
20-25290190-G-A p.Thr214Met missense ABHD12 16 82970 1.92841E-4 41485 0 9.55536E-5
20-25290195-C-T p.Val212Val synonymous ABHD12 1 82988 1.20499E-5 41494 0 3.98007E-6
20-25290218-G-A c.620-7C>T splice_region ABHD12 1 82836 1.2072E-5 41418 0 2.3893E-5
20-25295555-T-C c.619+6A>G splice_region ABHD12 1 83210 1.20178E-5 41605 0 NA
20-25295573-A-T p.Phe203Ile missense ABHD12 1 83294 1.20057E-5 41647 0 1.15314E-4
20-25295582-C-T p.Val200Met missense ABHD12 1 83298 1.20051E-5 41649 0 2.54793E-4
20-25295595-G-A p.Ser195Ser synonymous ABHD12 3 83282 3.60222E-5 41641 0 NA
20-25297677-C-T c.573+7G>A splice_region ABHD12 1 81518 1.22672E-5 40759 0 5.59347E-5
20-25297678-A-G c.573+6T>C splice_region ABHD12 1 81568 1.22597E-5 40784 0 NA
20-25297685-T-C p.Lys191Arg missense+splice_region ABHD12 1 81634 1.22498E-5 40817 0 1.19839E-5
20-25297694-T-G p.Glu188Ala missense ABHD12 1 81446 1.22781E-5 40723 0 NA
20-25297698-C-T p.Val187Met missense ABHD12 3 81328 3.68877E-5 40664 0 5.03525E-4
20-25297707-C-T p.Asp184Asn missense ABHD12 2 81200 2.46305E-5 40600 0 3.48736E-5
20-25297708-G-A p.Gly183Gly synonymous ABHD12 10 81024 1.2342E-4 40512 0 1.59317E-4
20-25300834-C-G c.542+1G>C splice_donor ABHD12 1 83038 1.20427E-5 41519 0 NA
20-25300837-G-A p.Thr180Thr splice_region+synonymous ABHD12 3 83070 3.61141E-5 41535 0 8.37107E-5
20-25300845-C-T p.Ala178Thr missense ABHD12 8 83090 9.62811E-5 41545 0 6.36902E-5
20-25300846-G-A p.Asn177Asn synonymous ABHD12 3 83104 3.60993E-5 41552 0 9.55414E-5
20-25300871-G-C p.Pro169Arg missense ABHD12 2 83178 2.40448E-5 41589 0 NA
20-25300899-A-G p.Tyr160His missense ABHD12 2 83184 2.40431E-5 41592 0 NA
20-25300909-G-C p.Asp156Glu missense ABHD12 1 83210 1.20178E-5 41605 0 NA
20-25300923-C-T p.Ala152Thr missense ABHD12 4 83156 4.81024E-5 41578 0 3.18471E-5
20-25300924-G-A c.-19C>T 5_prime_UTR_premature_start_codon_gain ABHD12 18 83166 2.16435E-4 41583 0 7.5608E-5
20-25300926-T-G p.Asn151His missense ABHD12 2 83162 2.40494E-5 41581 0 0.00125
20-25300935-A-G p.Trp148Arg missense ABHD12 1 83140 1.20279E-5 41570 0 NA
20-25300936-G-C p.Val147Val synonymous ABHD12 1 83146 1.2027E-5 41573 0 3.98108E-6
20-25300947-C-T p.Val144Ile missense ABHD12 1 83030 1.20438E-5 41515 0 3.18492E-5
20-25300954-C-CCAGACTCCAATGGTCACGTCTTCCTCTGG c.423-1_423insCCAGAGGAAGACGTGACCATTGGAGTCTG splice_acceptor ABHD12 2 82902 2.41249E-5 41451 1 NA
20-25303954-C-T c.422+7G>A splice_region ABHD12 1 82868 1.20674E-5 41434 0 NA
20-25303958-C-T c.422+3G>A splice_region ABHD12 1 82930 1.20584E-5 41465 0 NA
20-25303970-A-G p.Ile138Thr missense ABHD12 1 83024 1.20447E-5 41512 0 3.97668E-6
20-25303973-G-C p.Thr137Ser missense ABHD12 1 83084 1.2036E-5 41542 0 8.24239E-6
20-25303975-C-T p.Val136Val synonymous ABHD12 6 83094 7.22074E-5 41547 0 8.24212E-6
20-25303977-C-T p.Val136Met missense ABHD12 5 83102 6.0167E-5 41551 0 3.29674E-5
20-25303978-G-T p.Asp135Glu missense ABHD12 23 83098 2.76782E-4 41549 0 6.05096E-4
20-25303978-G-A c.-67C>T 5_prime_UTR_premature_start_codon_gain ABHD12 3 83102 3.61002E-5 41551 0 9.55414E-5
20-25304008-C-T c.-97G>A 5_prime_UTR_premature_start_codon_gain ABHD12 2 83210 2.40356E-5 41605 0 1.19292E-5
20-25304039-T-A p.Lys115Ile missense ABHD12 1 83162 1.20247E-5 41581 0 NA
20-25304044-ATC-A p.Asp113fs frameshift ABHD12 3 83130 3.60881E-5 41565 0 3.1902E-5
20-25304046-C-CAAA p.Ile112dup conservative_inframe_insertion ABHD12 3 83126 3.60898E-5 41563 0 3.19509E-5
20-25304049-T-A p.Ile112Phe missense ABHD12 4 83100 4.81348E-5 41550 0 4.94544E-5
20-25304063-C-T p.Arg107Lys missense ABHD12 1 82934 1.20578E-5 41467 0 NA
20-25304065-T-A p.Val106Val splice_region+synonymous ABHD12 1 82870 1.20671E-5 41435 0 3.18451E-5
20-25304067-C-CGAAATTCAAGAAAATCAGTTTGGCCTGTATTCCAGGACATAGTT c.317-2_317-1insAACTATGTCCTGGAATACAGGCCAAACTGATTTTCTTGAATTTC splice_acceptor ABHD12 4 82796 4.83115E-5 41398 2 NA
20-25304071-A-G c.317-5T>C splice_region ABHD12 4 82630 4.84086E-5 41315 0 2.78385E-5
20-25319514-T-C c.*79+7A>G splice_region ABHD12 1 31286 3.19632E-5 15643 0 NA
20-25319600-C-G p.Ter119Tyrext*? stop_lost ABHD12 1 50898 1.96471E-5 25449 0 NA
20-25319602-A-G p.Ter119Glnext*? stop_lost ABHD12 1 51368 1.94674E-5 25684 0 1.81653E-5
20-25319603-G-A p.Cys118Cys synonymous ABHD12 11 51520 2.13509E-4 25760 0 9.55962E-5
20-25319625-G-A p.Ser111Phe missense ABHD12 3 56922 5.27037E-5 28461 0 3.18512E-5
20-25319628-G-A p.Pro110Leu missense ABHD12 1 57652 1.73455E-5 28826 0 NA
20-25319631-G-A p.Ala109Val missense ABHD12 6 58268 1.02972E-4 29134 0 1.56653E-4
20-25319637-G-A p.Pro107Leu missense ABHD12 1 60706 1.64728E-5 30353 0 NA
20-25319855-C-T c.316+8G>A splice_region ABHD12 1 83298 1.20051E-5 41649 0 NA
20-25319857-A-C c.316+6T>G splice_region ABHD12 1 83298 1.20051E-5 41649 0 NA
20-25319863-C-G p.Val106Leu missense+splice_region ABHD12 1 83328 1.20008E-5 41664 0 NA
20-25319863-C-T p.Val106Ile missense+splice_region ABHD12 1 83328 1.20008E-5 41664 0 8.24389E-6
20-25319864-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain ABHD12 3 83330 3.60014E-5 41665 0 5.03525E-4
20-25319877-A-G p.Ile101Thr missense ABHD12 1 83328 1.20008E-5 41664 0 3.97659E-6
20-25319878-T-C p.Ile101Val missense ABHD12 1 83332 1.20002E-5 41666 0 NA
20-25319903-T-C c.-196A>G 5_prime_UTR_premature_start_codon_gain ABHD12 4 83348 4.79916E-5 41674 0 2.38595E-5
20-25319905-G-C p.Leu92Val missense ABHD12 1 83350 1.19976E-5 41675 0 NA
20-25319914-G-T p.Leu89Ile missense ABHD12 1 83354 1.1997E-5 41677 0 NA
20-25319920-G-T p.Pro87Thr missense ABHD12 3 83346 3.59945E-5 41673 0 1.9884E-5
20-25319922-A-G p.Ile86Thr missense ABHD12 1 83346 1.19982E-5 41673 0 NA
20-25319927-A-C p.Ile84Met missense ABHD12 1 83354 1.1997E-5 41677 0 NA
20-25319929-T-C p.Ile84Val missense ABHD12 1 83350 1.19976E-5 41675 0 3.18114E-5
20-25319967-C-T p.Arg71His missense ABHD12 15 83330 1.80007E-4 41665 0 5.76768E-5
20-25319968-G-A p.Arg71Cys missense ABHD12 2 83328 2.40015E-5 41664 0 3.29625E-5
20-25319976-A-G p.Val68Ala missense ABHD12 34 83324 4.08046E-4 41662 0 3.18492E-4
20-25319977-C-T p.Val68Met missense ABHD12 250 83320 0.00300048 41660 2 0.00694356
20-25319977-C-G p.Val68Leu missense ABHD12 1 83324 1.20013E-5 41662 0 NA
20-25319978-G-A p.Gly67Gly synonymous ABHD12 2 83314 2.40056E-5 41657 0 NA
20-25319985-C-T p.Arg65Gln missense+splice_region ABHD12 1 83312 1.20031E-5 41656 0 8.24063E-6
20-25319986-G-A p.Arg65* stop_gained ABHD12 3 83316 3.60075E-5 41658 0 1.98867E-5
20-25319990-G-GCC c.192-4_192-3insGG splice_region ABHD12 4 83310 4.80134E-5 41655 2 NA
20-25319990-G-A c.192-3C>T splice_region ABHD12 1 83310 1.20034E-5 41655 0 NA
20-25320262-G-A p.Gln18* stop_gained ABHD12 2 77980 2.56476E-5 38990 0 NA
20-25320273-CA-C p.Cys14fs frameshift ABHD12 2 77946 2.56588E-5 38973 0 NA
20-25320273-C-T p.Cys14Tyr missense ABHD12 1 77946 1.28294E-5 38973 0 9.262E-6
20-25320294-C-T p.Gly7Asp missense ABHD12 2 77936 2.56621E-5 38968 0 1.24527E-5
20-25320300-C-G p.Gly5Ala missense ABHD12 19 77916 2.43852E-4 38958 0 0.00375235
20-25320300-C-A p.Gly5Val missense ABHD12 2 77916 2.56687E-5 38958 0 6.27353E-4
20-25320303-C-T p.Gly4Glu missense ABHD12 1 77914 1.28347E-5 38957 0 4.15493E-6
20-25320304-C-G p.Gly4Arg missense ABHD12 1 77916 1.28343E-5 38958 0 3.1841E-5
20-25320325-T-C c.-281+6A>G splice_region ABHD12 1 77842 1.28465E-5 38921 0 NA
20-25320326-G-A c.-281+5C>T splice_region ABHD12 5 77840 6.42343E-5 38920 0 9.55779E-5
20-25320333-C-T c.-283G>A splice_region ABHD12 1 77806 1.28525E-5 38903 0 NA
20-25320334-G-A c.-21C>T 5_prime_UTR_premature_start_codon_gain ABHD12 7 77788 8.99882E-5 38894 0 1.0089E-4
20-25320349-G-A c.-36C>T 5_prime_UTR_premature_start_codon_gain ABHD12 14 77634 1.80333E-4 38817 0 4.46229E-4
20-25320367-G-A c.-317C>T 5_prime_UTR_premature_start_codon_gain ABHD12 1 77236 1.29473E-5 38618 0 6.25E-4
20-25371129-CGCTCCGCGCGAAG-C c.191+7_191+19delCTTCGCGCGGAGC splice_region ABHD12 1 37640 2.65675E-5 18820 0 1.62813E-4
20-25371134-CGCGCGAAG-C c.191+7_191+14delCTTCGCGC splice_region ABHD12 10 36758 2.7205E-4 18379 0 0.00269172
20-25371136-CGCGAAG-C c.191+7_191+12delCTTCGC splice_region ABHD12 2 37546 5.3268E-5 18773 0 3.29525E-4
20-25371138-CGAAG-C c.191+7_191+10delCTTC splice_region ABHD12 6 37684 1.59219E-4 18842 0 0.00217061
20-25371144-CTCA-C c.191+2_191+4delTGA splice_donor ABHD12 1 38236 2.61534E-5 19118 0 1.31709E-4
20-25371145-T-C c.191+4A>G splice_region ABHD12 6 38160 1.57233E-4 19080 0 0.00111248
20-25371147-A-C c.191+2T>G splice_donor ABHD12 2 38298 5.2222E-5 19149 0 9.52381E-4
20-25371149-CTG-C p.Arg64fs frameshift ABHD12 1 38468 2.59956E-5 19234 0 2.62584E-5
20-25371151-G-A p.Gly63Gly splice_region+synonymous ABHD12 3 38596 7.77283E-5 19298 0 1.3954E-5
20-25371151-G-C p.Gly63Gly splice_region+synonymous ABHD12 7 38586 1.81413E-4 19293 0 0.00147059
20-25371158-G-T p.Ala61Glu missense ABHD12 1 38714 2.58304E-5 19357 0 7.45768E-5
20-25371160-C-T p.Arg60Arg synonymous ABHD12 1 38820 2.57599E-5 19410 0 NA
20-25371170-C-T p.Gly57Glu missense ABHD12 2 39102 5.11483E-5 19551 0 4.74113E-4
20-25371171-C-G p.Gly57Arg missense ABHD12 1 39112 2.55676E-5 19556 0 NA
20-25371173-G-A p.Ala56Val missense ABHD12 1 39078 2.55898E-5 19539 0 9.41442E-5
20-25371191-G-T p.Pro50Gln missense ABHD12 1 39286 2.54544E-5 19643 0 3.25563E-5
20-25371192-GC-TT p.GluPro49GluThr missense ABHD12 1 39292 2.54505E-5 19646 0 NA
20-25371199-C-A p.Ala47Ala synonymous ABHD12 2 39330 5.08518E-5 19665 0 4.47197E-5
20-25371201-C-A p.Ala47Ser missense ABHD12 1 39334 2.54233E-5 19667 0 NA
20-25371205-C-T p.Pro45Pro synonymous ABHD12 7 39342 1.77927E-4 19671 0 9.75483E-5
20-25371205-C-G p.Pro45Pro synonymous ABHD12 2 39342 5.08363E-5 19671 0 NA
20-25371211-C-T p.Thr43Thr synonymous ABHD12 4 39386 1.01559E-4 19693 0 3.52983E-4
20-25371211-C-A p.Thr43Thr synonymous ABHD12 1 39386 2.53897E-5 19693 0 NA
20-25371213-T-A p.Thr43Ser missense ABHD12 1 39388 2.53884E-5 19694 0 NA
20-25371222-G-C p.Leu40Val missense ABHD12 9 39500 2.27848E-4 19750 0 5.29755E-4
20-25371237-G-A p.Arg35Cys missense ABHD12 6 39352 1.5247E-4 19676 0 0.00440044
20-25371237-G-T p.Arg35Ser missense ABHD12 1 39352 2.54117E-5 19676 0 NA
20-25371241-G-A p.Asp33Asp synonymous ABHD12 1 39348 2.54143E-5 19674 0 NA
20-25371246-C-A p.Ala32Ser missense ABHD12 3 39348 7.62428E-5 19674 0 0.00394589
20-25371252-G-C p.Leu30Val missense ABHD12 1 39334 2.54233E-5 19667 0 6.51381E-5
20-25371255-C-T p.Ala29Thr missense ABHD12 1 39342 2.54181E-5 19671 0 NA
20-25371270-C-T p.Gly24Ser missense ABHD12 2 39280 5.09165E-5 19640 0 9.76181E-5
20-25371270-CGGA-C p.Ser23del conservative_inframe_deletion ABHD12 1 39284 2.54557E-5 19642 0 NA
20-25371271-G-A p.Ser23Ser synonymous ABHD12 2 39328 5.08544E-5 19664 0 6.50111E-5
20-25371278-G-A p.Ser21Phe missense ABHD12 6 39282 1.52742E-4 19641 0 0.00255102
20-25371281-G-A p.Ser20Leu missense ABHD12 1 39204 2.55076E-5 19602 0 1.41655E-5
20-25371287-G-C p.Ala18Gly missense ABHD12 2 39064 5.1198E-5 19532 0 3.26563E-5
20-25371301-C-G p.Glu13Asp missense ABHD12 2 39006 5.12742E-5 19503 0 2.90444E-5
20-25371304-A-C p.His12Gln missense ABHD12 1 38838 2.5748E-5 19419 0 2.91002E-5
20-25371311-A-C p.Leu10Trp missense ABHD12 1 38510 2.59673E-5 19255 0 NA
20-25371318-C-T p.Val8Ile missense ABHD12 1 38148 2.62137E-5 19074 0 NA
20-25371321-G-A p.Pro7Ser missense ABHD12 5 38114 1.31185E-4 19057 0 0.00482315
20-25371327-T-C p.Thr5Ala missense ABHD12 1 37934 2.63616E-5 18967 0 1.28403E-4
20-25371426-G-A c.-87C>T 5_prime_UTR_premature_start_codon_gain ABHD12 24 27466 8.73808E-4 13733 0 0.00147435
20-25371433-G-A c.-94C>T 5_prime_UTR_premature_start_codon_gain ABHD12 199 26872 0.00740548 13436 1 0.0199661
20-25371466-C-A c.-127G>T 5_prime_UTR_premature_start_codon_gain ABHD12 2 22946 8.71612E-5 11473 0 NA
20-25371499-C-A c.-160G>T 5_prime_UTR_premature_start_codon_gain ABHD12 1 17062 5.86098E-5 8531 0 3.32912E-5