Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-17403475-T-C p.Lys439Glu missense ABHD8 3 80302 3.7359E-5 40151 0 NA
19-17403487-G-T p.Pro435Thr missense ABHD8 1 80594 1.24079E-5 40297 0 NA
19-17403500-T-C p.Pro430Pro synonymous ABHD8 1 81000 1.23457E-5 40500 0 1.05621E-5
19-17403506-C-A p.Pro428Pro synonymous ABHD8 1 81228 1.2311E-5 40614 0 NA
19-17403507-G-A p.Pro428Leu missense ABHD8 3 81096 3.69932E-5 40548 0 1.01777E-5
19-17403508-G-T p.Pro428Thr missense ABHD8 17 81232 2.09277E-4 40616 0 5.41574E-4
19-17403515-C-T p.Lys425Lys synonymous ABHD8 1 81628 1.22507E-5 40814 0 1.61587E-5
19-17403522-GA-TC p.Ser423Glu missense ABHD8 5 81852 6.10859E-5 40926 0 NA
19-17403525-G-A p.Pro422Leu missense ABHD8 3 82004 3.65836E-5 41002 0 4.01978E-6
19-17403526-G-A p.Pro422Ser missense ABHD8 1 82046 1.21883E-5 41023 0 9.17128E-6
19-17403528-TC-GA p.Glu421Ser missense ABHD8 3 82066 3.65559E-5 41033 0 NA
19-17403528-T-G p.Glu421Ala missense ABHD8 1 82066 1.21853E-5 41033 0 1.59286E-4
19-17403529-C-A p.Glu421* stop_gained ABHD8 1 82104 1.21797E-5 41052 0 1.59266E-4
19-17403530-G-C p.Pro420Pro synonymous ABHD8 1 82150 1.21729E-5 41075 0 9.02657E-6
19-17403533-C-T p.Glu419Glu synonymous ABHD8 2 82202 2.43303E-5 41101 0 4.01056E-6
19-17403548-T-G p.Glu414Asp missense ABHD8 1 82670 1.20963E-5 41335 0 NA
19-17403550-C-T p.Glu414Lys missense ABHD8 2 82664 2.41943E-5 41332 0 8.00186E-6
19-17403551-G-A p.His413His synonymous ABHD8 1 82704 1.20913E-5 41352 0 1.71895E-5
19-17403558-AG-CC p.Leu411Gly missense ABHD8 1 82794 1.20782E-5 41397 0 NA
19-17403561-G-C p.Thr410Arg missense ABHD8 1 82830 1.20729E-5 41415 0 NA
19-17403569-C-A p.Thr407Thr synonymous ABHD8 1 82910 1.20613E-5 41455 0 NA
19-17403572-C-T p.Glu406Glu synonymous ABHD8 1 82920 1.20598E-5 41460 0 3.99476E-6
19-17403577-G-A p.Pro405Ser missense ABHD8 3 82938 3.61716E-5 41469 0 7.99143E-6
19-17403596-G-A p.His398His synonymous ABHD8 2 82996 2.40975E-5 41498 0 2.5346E-5
19-17403611-G-T p.Ile393Ile synonymous ABHD8 1 82772 1.20814E-5 41386 0 NA
19-17403616-G-A p.Leu392Phe missense ABHD8 1 82728 1.20878E-5 41364 0 8.50369E-6
19-17405089-G-A c.1149+8C>T splice_region ABHD8 1 79762 1.25373E-5 39881 0 NA
19-17405091-C-G c.1149+6G>C splice_region ABHD8 22 80074 2.74746E-4 40037 0 1.41971E-4
19-17405100-G-C p.Ala382Ala synonymous ABHD8 1 80552 1.24143E-5 40276 0 6.37267E-5
19-17405102-C-T p.Ala382Thr missense ABHD8 1 80750 1.23839E-5 40375 0 NA
19-17405109-C-G p.Gln379His missense ABHD8 2 81244 2.46172E-5 40622 0 NA
19-17405125-G-A p.Pro374Leu missense ABHD8 5 81682 6.1213E-5 40841 0 3.18573E-5
19-17405130-A-G p.Phe372Phe synonymous ABHD8 25 81960 3.05027E-4 40980 0 4.78011E-4
19-17405133-C-T p.Lys371Lys synonymous ABHD8 1 82050 1.21877E-5 41025 0 NA
19-17405139-G-A p.His369His synonymous ABHD8 5 82280 6.07681E-5 41140 0 2.68783E-4
19-17405160-G-T p.Val362Val synonymous ABHD8 1 82646 1.20998E-5 41323 0 NA
19-17405162-C-T p.Val362Ile missense ABHD8 1 82662 1.20975E-5 41331 0 NA
19-17405190-C-T p.Glu352Glu synonymous ABHD8 2 82942 2.41132E-5 41471 0 8.25996E-6
19-17405251-T-C p.Asn332Ser missense ABHD8 1 83032 1.20435E-5 41516 0 NA
19-17405283-C-T p.Glu321Glu synonymous ABHD8 1 83056 1.20401E-5 41528 0 3.29995E-5
19-17405299-C-T p.Arg316His missense ABHD8 1 82904 1.20621E-5 41452 0 NA
19-17405300-G-T p.Arg316Ser missense ABHD8 2 82904 2.41243E-5 41452 0 3.18613E-5
19-17405313-C-CTTGAGGAAG c.933-1_933insCTTCCTCAA splice_acceptor ABHD8 5 82032 6.09518E-5 41016 2 NA
19-17405486-G-A p.Leu310Leu splice_region+synonymous ABHD8 1 82658 1.2098E-5 41329 0 NA
19-17405504-G-A p.Cys304Cys synonymous ABHD8 4 82602 4.8425E-5 41301 0 3.98324E-6
19-17405510-C-T p.Ser302Ser synonymous ABHD8 101 82510 0.00122409 41255 0 0.00251624
19-17405527-C-T p.Val297Ile missense ABHD8 3 82426 3.63963E-5 41213 0 1.27453E-4
19-17405540-G-A p.Asn292Asn synonymous ABHD8 24 82364 2.91389E-4 41182 0 4.72222E-4
19-17405548-T-C p.Ile290Val missense ABHD8 15 82298 1.82264E-4 41149 0 8.36553E-5
19-17405585-G-A p.Gly277Gly synonymous ABHD8 1 81932 1.22052E-5 40966 0 8.2927E-6
19-17405602-C-A p.Val272Leu missense ABHD8 44 81956 5.36873E-4 40978 0 0.00100705
19-17405612-T-C p.Leu268Leu synonymous ABHD8 26 81844 3.17678E-4 40922 1 0.00105938
19-17405615-G-C p.Asp267Glu missense ABHD8 1 81806 1.2224E-5 40903 0 3.98283E-6
19-17405615-G-A p.Asp267Asp synonymous ABHD8 1 81806 1.2224E-5 40903 0 NA
19-17405615-G-T p.Asp267Glu missense ABHD8 1 81806 1.2224E-5 40903 0 NA
19-17405652-A-C p.Val255Gly missense+splice_region ABHD8 2 81308 2.45978E-5 40654 0 NA
19-17411667-G-A p.Tyr253Tyr splice_region+synonymous ABHD8 1 81458 1.22763E-5 40729 0 4.20794E-5
19-17411680-A-G p.Ile249Thr missense ABHD8 1 81628 1.22507E-5 40814 0 NA
19-17411707-C-A p.Arg240Leu missense ABHD8 1 81678 1.22432E-5 40839 0 NA
19-17411708-G-A p.Arg240Cys missense ABHD8 1 81700 1.22399E-5 40850 0 1.21843E-5
19-17411720-C-T p.Ala236Thr missense ABHD8 1 81858 1.22163E-5 40929 0 8.3203E-6
19-17411730-C-T p.Glu232Glu synonymous ABHD8 1 81976 1.21987E-5 40988 0 1.66199E-5
19-17411740-G-A p.Ala229Val missense ABHD8 1 82074 1.21841E-5 41037 0 8.30993E-6
19-17411740-G-T p.Ala229Glu missense ABHD8 1 82076 1.21838E-5 41038 0 3.18593E-5
19-17411745-G-A p.Phe227Phe synonymous ABHD8 2 82208 2.43285E-5 41104 0 0.001875
19-17411751-G-A p.Tyr225Tyr synonymous ABHD8 2 82172 2.43392E-5 41086 0 4.01529E-6
19-17411770-G-A p.Pro219Leu missense ABHD8 4 81992 4.87852E-5 40996 0 NA
19-17411771-G-A p.Pro219Ser missense ABHD8 1 81952 1.22023E-5 40976 0 NA
19-17411772-C-T p.Ala218Ala synonymous ABHD8 2 81854 2.44337E-5 40927 0 NA
19-17411820-G-C p.Gly202Gly synonymous ABHD8 1 81890 1.22115E-5 40945 0 NA
19-17411828-G-A p.Arg200Cys missense ABHD8 1 81692 1.22411E-5 40846 0 5.03525E-4
19-17411851-T-C p.Lys192Arg missense ABHD8 1 81484 1.22723E-5 40742 0 1.66215E-5
19-17411854-C-G p.Trp191Ser missense ABHD8 1 81428 1.22808E-5 40714 0 NA
19-17411871-G-A p.Gly185Gly synonymous ABHD8 6 81408 7.37028E-5 40704 0 2.54923E-4
19-17411873-C-T p.Gly185Ser missense ABHD8 1 81464 1.22754E-5 40732 0 NA
19-17411886-G-A p.Phe180Phe synonymous ABHD8 1 81514 1.22678E-5 40757 0 NA
19-17411901-G-C p.Asp175Glu missense ABHD8 1 81114 1.23283E-5 40557 0 8.33194E-6
19-17411907-C-G p.Gln173His missense ABHD8 2 81064 2.46719E-5 40532 0 NA
19-17411931-G-A p.Arg165Arg synonymous ABHD8 1 80874 1.23649E-5 40437 0 NA
19-17411933-G-A p.Arg165Cys missense ABHD8 1 80722 1.23882E-5 40361 0 NA
19-17411938-T-C p.Glu163Gly missense ABHD8 1 80782 1.2379E-5 40391 0 3.18613E-5
19-17411940-A-G p.Cys162Cys synonymous ABHD8 4 80718 4.95552E-5 40359 0 5.64498E-5
19-17411950-T-C p.His175Arg missense+splice_region ABHD8 1 80550 1.24146E-5 40275 0 8.10222E-6
19-17411956-G-C p.Thr157Ser missense ABHD8 1 80156 1.24757E-5 40078 0 1.62991E-5
19-17411968-C-A p.Arg153Leu missense ABHD8 1 79412 1.25926E-5 39706 0 8.66146E-6
19-17411969-G-A p.Arg153Cys missense ABHD8 1 79284 1.26129E-5 39642 0 3.46705E-5
19-17411972-TG-T p.Arg152fs frameshift ABHD8 1 79332 1.26053E-5 39666 0 NA
19-17411981-G-A p.Arg149Trp missense ABHD8 2 78680 2.54194E-5 39340 0 NA
19-17411991-ACCACTG-A p.Ser144_Gly145del disruptive_inframe_deletion ABHD8 1 78692 1.27078E-5 39346 0 9.49343E-6
19-17411998-C-G p.Gly143Ala missense ABHD8 1 78922 1.26707E-5 39461 0 NA
19-17412000-A-ACTGCCG p.Ser142_Gly143insGlySer disruptive_inframe_insertion ABHD8 10 78910 1.26727E-4 39455 0 1.27494E-4
19-17412000-ACTGCCG-A p.Gly141_Ser142del disruptive_inframe_deletion ABHD8 1 78910 1.26727E-5 39455 0 2.85894E-5
19-17412004-C-T p.Gly141Asp missense ABHD8 1 78872 1.26788E-5 39436 0 8.76317E-6
19-17412005-C-A p.Gly141Cys missense ABHD8 2 78836 2.53691E-5 39418 0 1.87793E-5
19-17412010-C-A p.Gly139Val missense ABHD8 16 78596 2.03573E-4 39298 0 6.69301E-4
19-17412016-C-G p.Gly137Ala missense ABHD8 1 78278 1.2775E-5 39139 0 2.86467E-5
19-17412021-G-A p.Ser135Ser synonymous ABHD8 2 77684 2.57453E-5 38842 0 6.3743E-5
19-17412025-C-T p.Gly134Asp missense ABHD8 2 77196 2.59081E-5 38598 0 6.37389E-5
19-17412027-G-A p.Pro133Pro synonymous ABHD8 8 76956 1.03956E-4 38478 0 5.4752E-5
19-17412030-G-A p.Ala132Ala synonymous ABHD8 1 76646 1.3047E-5 38323 0 4.62496E-6
19-17412038-G-A p.Arg130Cys missense ABHD8 10 75670 1.32153E-4 37835 0 5.06073E-4
19-17412039-G-A p.Gly129Gly synonymous ABHD8 1 75546 1.3237E-5 37773 0 NA
19-17412049-C-A p.Gly126Val missense ABHD8 7 74750 9.36455E-5 37375 0 1.59418E-4
19-17412052-G-A p.Ala125Val missense ABHD8 2 74594 2.68118E-5 37297 0 4.62325E-6
19-17412055-G-A p.Pro124Leu missense ABHD8 5 74574 6.70475E-5 37287 0 6.8552E-5
19-17412057-A-G p.Asp123Asp synonymous ABHD8 98 74660 0.00131262 37330 1 0.0030303
19-17412062-C-T p.Ala122Thr missense ABHD8 1 74656 1.33948E-5 37328 0 0.0010101
19-17412065-G-T p.Leu121Met missense ABHD8 1 74696 1.33876E-5 37348 0 NA
19-17412068-C-T p.Glu120Lys missense ABHD8 2 74728 2.67637E-5 37364 0 4.46564E-6
19-17412080-C-T p.Ala116Thr missense ABHD8 1 74522 1.34189E-5 37261 0 1.32726E-5
19-17412081-G-A p.Ala115Ala synonymous ABHD8 5 74534 6.70835E-5 37267 0 6.61592E-5
19-17412084-C-T p.Pro114Pro synonymous ABHD8 6 74480 8.05585E-5 37240 0 1.03789E-4
19-17412088-G-A p.Pro113Leu missense ABHD8 1 74322 1.3455E-5 37161 0 NA
19-17412101-C-A p.Gly109Cys missense ABHD8 2 74398 2.68824E-5 37199 0 1.29534E-5
19-17412111-G-A p.His105His synonymous ABHD8 4 74156 5.39403E-5 37078 0 1.46424E-4
19-17412123-G-A p.Ala101Ala synonymous ABHD8 11 73722 1.49209E-4 36861 0 1.91266E-4
19-17412127-C-G p.Arg100Pro missense ABHD8 24 73542 3.26344E-4 36771 0 9.56084E-5
19-17412136-C-G p.Arg97Pro missense ABHD8 1 73062 1.3687E-5 36531 0 8.99329E-6
19-17412153-C-T p.Leu91Leu synonymous ABHD8 1 73344 1.36344E-5 36672 0 NA
19-17412161-G-A p.Arg89Trp missense ABHD8 1 73330 1.3637E-5 36665 0 4.21941E-6
19-17412169-C-T p.Arg86His missense ABHD8 1 73778 1.35542E-5 36889 0 6.37105E-5
19-17412180-G-A p.Ile82Ile synonymous ABHD8 2 74516 2.68399E-5 37258 0 2.54777E-4
19-17412184-C-T p.Arg81Gln missense ABHD8 1 74824 1.33647E-5 37412 0 NA
19-17412185-G-A p.Arg81Trp missense ABHD8 18 74786 2.40687E-4 37393 0 1.27389E-4
19-17412187-C-T p.Arg80His missense ABHD8 2 74772 2.6748E-5 37386 0 1.59276E-4
19-17412188-G-A p.Arg80Cys missense ABHD8 1 75058 1.3323E-5 37529 0 3.18471E-5
19-17412200-C-G p.Val76Leu missense ABHD8 1 76262 1.31127E-5 38131 0 NA
19-17412206-C-T p.Gly74Ser missense ABHD8 1 76866 1.30097E-5 38433 0 NA
19-17412207-G-A p.Ser73Ser synonymous ABHD8 117 77076 0.00151798 38538 0 0.0040282
19-17412207-G-T p.Ser73Ser synonymous ABHD8 1 77078 1.29739E-5 38539 0 8.77532E-6
19-17412218-C-T p.Gly70Arg missense ABHD8 6731 77618 0.0867196 38809 408 0.124874
19-17412219-C-T p.Gln69Gln synonymous ABHD8 1 78084 1.28067E-5 39042 0 8.7289E-6
19-17412231-C-T p.Ser65Ser synonymous ABHD8 2 78948 2.53331E-5 39474 0 1.23106E-5
19-17412234-G-A p.Ser64Ser synonymous ABHD8 351 79242 0.00442947 39621 4 0.0093324
19-17412237-TGCGGATGATGGTGGAGGTGGGGCA-T p.Ala56_Ala63del disruptive_inframe_deletion ABHD8 3 79494 3.77387E-5 39747 0 3.18634E-5
19-17412239-C-G p.Ala63Pro missense ABHD8 7 79460 8.80946E-5 39730 0 4.92692E-5
19-17412243-T-C p.Ser61Ser synonymous ABHD8 2 79732 2.5084E-5 39866 0 8.73698E-6
19-17412249-T-G p.Pro59Pro synonymous ABHD8 1 79930 1.25109E-5 39965 0 4.10206E-6
19-17412258-G-A p.Ala56Ala synonymous ABHD8 2 80132 2.49588E-5 40066 0 5.04032E-4
19-17412264-G-A p.Ala54Ala synonymous ABHD8 38 80284 4.7332E-4 40142 0 0.0020202
19-17412265-G-T p.Ala54Asp missense ABHD8 2 80298 2.49072E-5 40149 0 4.12926E-6
19-17412269-G-A p.Pro53Ser missense ABHD8 1 80398 1.24381E-5 40199 0 NA
19-17412277-C-T p.Gly50Glu missense ABHD8 1 79516 1.25761E-5 39758 0 NA
19-17412293-G-A p.Arg45Trp missense ABHD8 1 79952 1.25075E-5 39976 0 NA
19-17412293-G-T p.Arg45Arg synonymous ABHD8 1 79952 1.25075E-5 39976 0 NA
19-17412306-G-C p.Pro40Pro synonymous ABHD8 1 80378 1.24412E-5 40189 0 4.10985E-6
19-17412324-G-T p.Thr34Thr synonymous ABHD8 2 80698 2.47838E-5 40349 0 NA
19-17412335-C-G p.Asp31His missense ABHD8 4 80670 4.95847E-5 40335 0 NA
19-17412335-C-T p.Asp31Asn missense ABHD8 1 80670 1.23962E-5 40335 0 4.10748E-6
19-17412336-G-A p.Ser30Ser synonymous ABHD8 1 80662 1.23974E-5 40331 0 4.10563E-6
19-17412344-C-G p.Glu28Gln missense ABHD8 1 80652 1.23989E-5 40326 0 3.18735E-5
19-17412347-C-G p.Val27Leu missense ABHD8 1 80642 1.24005E-5 40321 0 NA
19-17412347-C-T p.Val27Ile missense ABHD8 9 80642 1.11604E-4 40321 0 1.27453E-4
19-17412349-C-G p.Ser26Thr missense ABHD8 5 80610 6.2027E-5 40305 0 1.23087E-5
19-17412352-T-C p.Glu25Gly missense ABHD8 40 80686 4.95749E-4 40343 0 0.00382385
19-17412354-C-T p.Leu24Leu synonymous ABHD8 1 80706 1.23907E-5 40353 0 8.22362E-6
19-17412356-G-T p.Leu24Met missense ABHD8 1 80674 1.23956E-5 40337 0 NA
19-17412363-C-G p.Val21Val synonymous ABHD8 1 80666 1.23968E-5 40333 0 NA
19-17412365-CG-TA p.AlaVal20AlaMet missense ABHD8 100 80596 0.00124076 40298 0 NA
19-17412365-C-T p.Val21Met missense ABHD8 49 80594 6.07986E-4 40297 0 0.0020141
19-17412366-G-A p.Ala20Ala synonymous ABHD8 21536 79494 0.270914 39747 2914 0.289592
19-17412368-C-T p.Ala20Thr missense ABHD8 1 80494 1.24233E-5 40247 0 4.20119E-6
19-17412372-G-T p.Pro18Pro synonymous ABHD8 1 80582 1.24097E-5 40291 0 NA
19-17412376-G-T p.Pro17His missense ABHD8 1 80472 1.24267E-5 40236 0 NA
19-17412376-G-A p.Pro17Leu missense ABHD8 1 80472 1.24267E-5 40236 0 4.43947E-5
19-17412377-G-A p.Pro17Ser missense ABHD8 12 80436 1.49187E-4 40218 0 9.55962E-5
19-17412399-G-A p.Ile9Ile synonymous ABHD8 21415 78994 0.271097 39497 2850 0.28791
19-17412401-T-C p.Ile9Val missense ABHD8 1 80188 1.24707E-5 40094 0 NA
19-17412405-G-A p.Asp7Asp synonymous ABHD8 2 79976 2.50075E-5 39988 0 6.18535E-5
19-17412408-G-T p.Thr6Thr synonymous ABHD8 1 79828 1.25269E-5 39914 0 4.98967E-6
19-17412416-C-A p.Gly4Trp missense ABHD8 1 79576 1.25666E-5 39788 0 NA
19-17412417-G-A p.Thr3Thr synonymous ABHD8 1 79536 1.25729E-5 39768 0 NA
19-17412426-G-A p.Thr16Thr synonymous ABHD8 227 79316 0.00286197 39658 0 0.00238899
19-17412428-TG-T p.His15fs frameshift ABHD8 3 79280 3.78406E-5 39640 0 1.57459E-5
19-17412435-T-TCATCGAGGGCCGCGGGGCCCGGGTCGGGGCGGAGGGGTCCCAG c.-8-3_-8-2insCTGGGACCCCTCCGCCCCGACCCGGGCCCCGCGGCCCTCGATG splice_region ABHD8 2 79094 2.52864E-5 39547 1 NA
19-17413022-C-G p.Ala9Pro missense ABHD8 352 956 0.368201 478 64 0.347369
19-17420977-C-G p.Ala13Ala splice_region+synonymous ABHD8 6 1466 0.00409277 733 0 0.0112739