Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-43732148-G-T c.-131G>T 5_prime_UTR_premature_start_codon_gain ABHD5 1 1108 9.02527E-4 554 0 NA
3-43732200-C-A c.-79C>A splice_region ABHD5 2 7942 2.51826E-4 3971 0 NA
3-43732363-G-C c.-122G>C 5_prime_UTR_premature_start_codon_gain ABHD5 2 38770 5.15863E-5 19385 0 9.60061E-5
3-43732425-G-T c.-60G>T 5_prime_UTR_premature_start_codon_gain ABHD5 1 56518 1.76935E-5 28259 0 NA
3-43732434-G-T c.-51G>T 5_prime_UTR_premature_start_codon_gain ABHD5 1 58886 1.6982E-5 29443 0 5.96716E-6
3-43732437-C-T c.-48C>T 5_prime_UTR_premature_start_codon_gain ABHD5 13 59916 2.1697E-4 29958 0 1.0622E-4
3-43732451-C-G c.-34C>G 5_prime_UTR_premature_start_codon_gain ABHD5 3 63908 4.69425E-5 31954 0 2.09118E-5
3-43732457-A-G c.-28A>G 5_prime_UTR_premature_start_codon_gain ABHD5 1 65092 1.53629E-5 32546 0 1.03263E-5
3-43732463-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain ABHD5 2 66076 3.02682E-5 33038 0 6.40861E-5
3-43732486-T-TGGC p.Ala3dup disruptive_inframe_insertion ABHD5 5 68882 7.25879E-5 34441 0 4.94956E-5
3-43732488-G-A p.Ala2Thr missense ABHD5 1 69030 1.44865E-5 34515 0 3.20472E-5
3-43732492-CGGA-C p.Glu7del disruptive_inframe_deletion ABHD5 2 68794 2.90723E-5 34397 0 2.24132E-4
3-43732492-C-CGGA p.Glu7dup disruptive_inframe_insertion ABHD5 1 68860 1.45222E-5 34430 0 4.87244E-5
3-43732494-G-T p.Glu4* stop_gained ABHD5 1 69458 1.43972E-5 34729 0 NA
3-43732495-A-C p.Glu4Ala missense ABHD5 23 68786 3.3437E-4 34393 0 9.06442E-4
3-43732496-G-A p.Glu4Glu synonymous ABHD5 1815 69264 0.0262041 34632 32 0.0664994
3-43732498-A-C p.Glu5Ala missense ABHD5 1 69424 1.44042E-5 34712 0 0.00313676
3-43732503-G-A p.Glu7Lys missense ABHD5 25 70226 3.55994E-4 35113 0 8.351E-4
3-43732505-G-A p.Glu7Glu synonymous ABHD5 2 70338 2.84341E-5 35169 0 1.90923E-5
3-43732506-G-A p.Val8Met missense ABHD5 1 70382 1.42082E-5 35191 0 3.21295E-5
3-43732510-A-G p.Asp9Gly missense ABHD5 57 70446 8.0913E-4 35223 5 0.008125
3-43732512-T-A p.Ser10Thr missense ABHD5 1 70728 1.41387E-5 35364 0 4.76027E-5
3-43732514-T-G p.Ser10Ser synonymous ABHD5 1 70852 1.41139E-5 35426 0 9.52036E-6
3-43732516-C-G p.Ala11Gly missense ABHD5 3 70840 4.2349E-5 35420 0 NA
3-43732518-G-A p.Asp12Asn missense ABHD5 2 70918 2.82016E-5 35459 0 NA
3-43732520-C-T p.Asp12Asp synonymous ABHD5 1 70990 1.40865E-5 35495 0 NA
3-43732523-C-T p.Thr13Thr synonymous ABHD5 220 71154 0.00309189 35577 0 0.00550902
3-43732523-C-A p.Thr13Thr synonymous ABHD5 1 71168 1.40513E-5 35584 0 NA
3-43732525-G-C p.Gly14Ala missense ABHD5 1 71232 1.40386E-5 35616 0 9.6463E-5
3-43732525-G-A p.Gly14Glu missense ABHD5 1 71232 1.40386E-5 35616 0 3.21543E-5
3-43732527-G-A p.Glu15Lys missense ABHD5 5 71122 7.03017E-5 35561 0 1.52792E-5
3-43732532-G-A c.47+1G>A splice_donor ABHD5 1 71164 1.4052E-5 35582 0 5.1443E-6
3-43732537-C-A c.47+6C>A splice_region ABHD5 6 70694 8.48728E-5 35347 0 2.91806E-5
3-43740762-C-T c.48-6C>T splice_region ABHD5 1 82876 1.20662E-5 41438 0 3.18573E-5
3-43740764-C-G c.48-4C>G splice_region ABHD5 24 82890 2.8954E-4 41445 0 5.73285E-4
3-43740776-G-T p.Trp19Leu missense ABHD5 3 83014 3.61385E-5 41507 0 NA
3-43740786-T-C c.-58T>C 5_prime_UTR_premature_start_codon_gain ABHD5 8 83012 9.63716E-5 41506 0 0.003125
3-43740790-C-T p.Leu24Phe missense ABHD5 2 83014 2.40923E-5 41507 0 2.54536E-4
3-43740791-T-C p.Leu24Pro missense ABHD5 2 83018 2.40912E-5 41509 0 NA
3-43740792-C-T p.Leu24Leu synonymous ABHD5 2 83018 2.40912E-5 41509 0 3.97703E-6
3-43740798-A-G p.Thr26Thr synonymous ABHD5 1 83024 1.20447E-5 41512 0 NA
3-43740799-T-A p.Trp27Arg missense ABHD5 6 83022 7.227E-5 41511 0 0.00100705
3-43740807-T-C p.Pro29Pro synonymous ABHD5 6 83050 7.22456E-5 41525 0 1.91034E-4
3-43740809-C-T p.Thr30Met missense ABHD5 1 83030 1.20438E-5 41515 0 1.59096E-5
3-43740810-G-A p.Thr30Thr synonymous ABHD5 12 83042 1.44505E-4 41521 0 1.91058E-4
3-43740814-A-G p.Ile32Val missense ABHD5 15 83034 1.80649E-4 41517 0 5.77577E-5
3-43740818-C-G p.Ser33* stop_gained ABHD5 3 83026 3.61333E-5 41513 0 NA
3-43740831-A-C p.Glu37Asp missense ABHD5 3 82994 3.61472E-5 41497 0 NA
3-43740832-G-C p.Ala38Pro missense ABHD5 1 82994 1.20491E-5 41497 0 NA
3-43740840-G-T p.Glu40Asp missense ABHD5 4 82910 4.82451E-5 41455 0 NA
3-43740855-T-C c.133+2T>C splice_donor ABHD5 1 82728 1.20878E-5 41364 0 NA
3-43740993-G-A c.134-1G>A splice_acceptor ABHD5 4 67504 5.92557E-5 33752 0 3.18654E-5
3-43743502-T-TGTGCCTTGCACATACAAAAA c.*127+2_*127+3insGTGCCTTGCACATACAAAAA splice_region ABHD5 1 26820 3.72856E-5 13410 0 NA
3-43743718-A-G p.Thr8Ala missense ABHD5 10 83090 1.20351E-4 41545 0 6.72518E-5
3-43743739-C-T p.Arg15Cys missense ABHD5 1 83216 1.20169E-5 41608 0 4.11563E-6
3-43743740-G-A p.Arg15His missense ABHD5 6 83222 7.20963E-5 41611 0 5.83265E-5
3-43743763-T-G p.Trp23Gly missense ABHD5 1 83296 1.20054E-5 41648 0 NA
3-43743768-A-G p.Thr24Thr synonymous ABHD5 2 83292 2.40119E-5 41646 0 8.28693E-6
3-43743772-A-G p.Lys26Glu missense ABHD5 2 83302 2.4009E-5 41651 0 3.18492E-5
3-43743774-G-C p.Lys26Asn missense ABHD5 8 83306 9.60315E-5 41653 0 1.73864E-4
3-43743775-T-C p.Phe27Leu missense ABHD5 177 83298 0.0021249 41649 0 0.00397988
3-43743785-A-C p.Asn30Thr missense ABHD5 1 83320 1.20019E-5 41660 0 NA
3-43743788-T-C p.Ile31Thr missense ABHD5 9 83324 1.08012E-4 41662 0 4.79593E-4
3-43743794-A-G p.Asn33Ser missense ABHD5 2 83342 2.39975E-5 41671 0 4.13182E-5
3-43743797-A-G p.Lys34Arg missense ABHD5 1 83348 1.19979E-5 41674 0 7.99546E-6
3-43743801-T-G p.Thr35Thr synonymous ABHD5 1 83360 1.19962E-5 41680 0 2.7922E-5
3-43743831-A-C p.Gly45Gly splice_region+synonymous ABHD5 4 83388 4.79685E-5 41694 0 6.25E-4
3-43743868-T-A p.Cys58Ser missense ABHD5 1 83406 1.19895E-5 41703 0 3.9769E-6
3-43743873-C-G p.Thr59Thr synonymous ABHD5 11 83402 1.31891E-4 41701 0 2.78368E-5
3-43743887-A-G p.Tyr64Cys missense ABHD5 1 83408 1.19893E-5 41704 0 3.97649E-6
3-43743900-A-T p.Leu68Leu synonymous ABHD5 1 83418 1.19878E-5 41709 0 3.97646E-6
3-43743900-A-G p.Leu68Leu synonymous ABHD5 2 83418 2.39756E-5 41709 0 7.41278E-5
3-43743905-G-A p.Gly70Asp missense ABHD5 1 83416 1.19881E-5 41708 0 3.97652E-6
3-43743914-G-T p.Arg73Leu missense ABHD5 637 83398 0.00763807 41699 2 0.00828584
3-43743925-C-A p.Pro77Thr missense ABHD5 7 83406 8.39268E-5 41703 0 6.37024E-5
3-43743941-A-T p.Asp82Val missense ABHD5 1 83408 1.19893E-5 41704 0 NA
3-43743952-G-A p.Val86Met missense ABHD5 1 83408 1.19893E-5 41704 0 NA
3-43743972-A-C p.Glu92Asp missense ABHD5 2 83420 2.39751E-5 41710 0 7.9526E-5
3-43743976-A-G p.Ile94Val missense ABHD5 1 83414 1.19884E-5 41707 0 5.03525E-4
3-43743981-A-C p.Glu95Asp missense ABHD5 1 83422 1.19872E-5 41711 0 NA
3-43743982-GA-TC p.Glu96Ser missense ABHD5 1 83428 1.19864E-5 41714 0 NA
3-43743985-T-C p.Trp97Arg missense ABHD5 1 83426 1.19867E-5 41713 0 3.18593E-5
3-43744003-T-C p.Leu103Leu synonymous ABHD5 2 83424 2.39739E-5 41712 0 9.06051E-5
3-43744008-C-A p.Asp104Glu missense ABHD5 1 83420 1.19875E-5 41710 0 NA
3-43744020-G-C p.Leu108Phe missense ABHD5 1 83422 1.19872E-5 41711 0 NA
3-43744021-C-T p.Leu109Phe missense ABHD5 1 83422 1.19872E-5 41711 0 8.23655E-6
3-43744045-T-C p.Leu117Leu synonymous ABHD5 1 83400 1.19904E-5 41700 0 NA
3-43744048-G-A p.Ala118Thr missense ABHD5 1 83394 1.19913E-5 41697 0 NA
3-43744061-C-T p.Ser122Leu missense ABHD5 2 83370 2.39894E-5 41685 0 1.98831E-5
3-43744062-G-A p.Ser122Ser synonymous ABHD5 4 83366 4.79812E-5 41683 0 3.29473E-5
3-43744065-G-A p.Leu123Leu synonymous ABHD5 1 83360 1.19962E-5 41680 0 NA
3-43744078-A-G p.Arg169Gly missense+splice_region ABHD5 1 83318 1.20022E-5 41659 0 1.19314E-5
3-43744082-A-G c.*500+3A>G splice_region ABHD5 1 83298 1.20051E-5 41649 0 3.18471E-5
3-43753195-C-T c.*501-6C>T splice_region ABHD5 2 83274 2.40171E-5 41637 0 NA
3-43753197-A-G c.*501-4A>G splice_region ABHD5 5 83288 6.00327E-5 41644 0 1.59119E-5
3-43753200-G-A c.*501-1G>A splice_acceptor ABHD5 2 83314 2.40056E-5 41657 0 1.64796E-5
3-43753204-T-G p.Val2Val synonymous ABHD5 1 83320 1.20019E-5 41660 0 8.2394E-6
3-43753206-A-G p.Asn3Ser missense ABHD5 3 83328 3.60023E-5 41664 0 1.19327E-5
3-43753213-C-T p.Leu5Leu synonymous ABHD5 3 83338 3.5998E-5 41669 0 9.55231E-5
3-43753220-G-T p.Val8Leu missense ABHD5 1 83366 1.19953E-5 41683 0 2.78374E-5
3-43753221-T-C p.Val8Ala missense ABHD5 1 83368 1.1995E-5 41684 0 3.18451E-5
3-43753242-A-G p.Glu15Gly missense ABHD5 1 83372 1.19944E-5 41686 0 NA
3-43753244-C-A p.Arg16Arg synonymous ABHD5 2 83366 2.39906E-5 41683 0 7.4129E-5
3-43753245-G-A p.Arg16Gln missense ABHD5 3 83372 3.59833E-5 41686 0 2.78379E-5
3-43753248-C-G p.Pro17Arg missense ABHD5 1 83378 1.19936E-5 41689 0 NA
3-43753257-C-T p.Ala20Val missense ABHD5 1 83370 1.19947E-5 41685 0 1.5908E-5
3-43753271-C-A p.Pro25Thr missense ABHD5 1 83366 1.19953E-5 41683 0 NA
3-43753285-G-A p.Trp29* stop_gained ABHD5 1 83370 1.19947E-5 41685 0 8.23642E-6
3-43753313-C-A p.Pro39Thr missense ABHD5 1 83360 1.19962E-5 41680 0 NA
3-43753313-C-T p.Pro39Ser missense ABHD5 1 83360 1.19962E-5 41680 0 NA
3-43753322-C-G p.Pro42Ala missense ABHD5 2 83352 2.39946E-5 41676 0 9.8837E-5
3-43753334-C-A p.Leu46Ile missense ABHD5 4 83360 4.79846E-5 41680 0 6.25E-4
3-43753345-A-G p.Ala49Ala synonymous ABHD5 3 83362 3.59876E-5 41681 0 8.23642E-6
3-43756440-T-A p.Gly53Gly splice_region+synonymous ABHD5 9 83002 1.08431E-4 41501 0 4.12378E-5
3-43756456-C-T p.Arg59Cys missense ABHD5 1 83078 1.20369E-5 41539 0 1.64832E-5
3-43756457-G-A p.Arg59His missense ABHD5 1 83080 1.20366E-5 41540 0 3.18857E-5
3-43756466-C-T p.Pro62Leu missense ABHD5 1 83142 1.20276E-5 41571 0 NA
3-43756467-T-C p.Pro62Pro synonymous ABHD5 1 83144 1.20273E-5 41572 0 NA
3-43756478-G-A p.Arg66Gln missense ABHD5 9 83128 1.08267E-4 41564 0 1.94943E-4
3-43756482-G-A p.Lys67Lys synonymous ABHD5 1 83126 1.20299E-5 41563 0 NA
3-43756492-A-G p.Met71Val missense ABHD5 2 83120 2.40616E-5 41560 0 1.98943E-5
3-43756497-C-T p.Phe72Phe synonymous ABHD5 1 83098 1.2034E-5 41549 0 NA
3-43756498-G-C p.Glu73Gln missense ABHD5 1 83086 1.20357E-5 41543 0 3.97981E-6
3-43756498-G-A p.Glu73Lys missense ABHD5 1 83086 1.20357E-5 41543 0 NA
3-43756503-C-T p.Asp74Asp synonymous ABHD5 4 83064 4.81556E-5 41532 0 6.25E-4
3-43756504-G-A p.Asp75Asn missense ABHD5 1 83058 1.20398E-5 41529 0 2.47484E-5
3-43756504-G-C p.Asp75His missense ABHD5 2 83058 2.40796E-5 41529 0 1.19402E-5
3-43756518-A-G p.Glu79Glu synonymous ABHD5 4 82980 4.82044E-5 41490 0 2.78678E-5
3-43756519-T-A p.Tyr80Asn missense ABHD5 1 82988 1.20499E-5 41494 0 NA
3-43756524-C-G p.Ile81Met missense ABHD5 1 82938 1.20572E-5 41469 0 NA
3-43756543-A-C p.Thr88Pro missense ABHD5 1 82546 1.21145E-5 41273 0 NA
3-43756544-C-T p.Thr88Ile missense ABHD5 1 82536 1.21159E-5 41268 0 3.30382E-5
3-43756557-G-T c.269+7G>T splice_region ABHD5 5 82116 6.08895E-5 41058 0 1.60565E-4
3-43759155-C-T c.774-8C>T splice_region ABHD5 1 83040 1.20424E-5 41520 0 3.98042E-5
3-43759191-A-G p.Ile268Val missense ABHD5 1 83028 1.20441E-5 41514 0 7.9621E-6
3-43759205-G-T p.Trp272Cys missense ABHD5 1 83000 1.20482E-5 41500 0 NA
3-43759218-A-G p.Met277Val missense ABHD5 2 83018 2.40912E-5 41509 0 3.18492E-5
3-43759221-C-G p.Leu278Val missense ABHD5 1 83016 1.20459E-5 41508 0 3.98096E-6
3-43759227-C-T p.Arg280* stop_gained ABHD5 2 83020 2.40906E-5 41510 0 NA
3-43759230-A-G p.Ile281Val missense ABHD5 1 83036 1.2043E-5 41518 0 1.64766E-5
3-43759241-G-A p.Met284Ile missense ABHD5 4 83046 4.81661E-5 41523 0 2.22958E-4
3-43759255-C-T p.Pro289Leu missense ABHD5 3 83148 3.60802E-5 41574 0 NA
3-43759268-C-T p.Leu94Phe missense ABHD5 3 83170 3.60707E-5 41585 0 5.76635E-5
3-43759268-C-G p.Leu94Val missense ABHD5 1 83170 1.20236E-5 41585 0 NA
3-43759274-C-T p.Arg96Cys missense ABHD5 2 83174 2.4046E-5 41587 0 3.18451E-5
3-43759275-G-A p.Arg96His missense ABHD5 2 83176 2.40454E-5 41588 0 1.27397E-4
3-43759280-A-G p.Ile98Val missense ABHD5 1 83190 1.20207E-5 41595 0 NA
3-43759282-C-G p.Ile98Met missense ABHD5 1 83192 1.20204E-5 41596 0 NA
3-43759297-A-G p.Asn303Ser missense ABHD5 4 83212 4.807E-5 41606 0 6.36902E-5
3-43759300-C-T p.Ser304Phe missense ABHD5 1 83236 1.2014E-5 41618 0 3.97871E-6
3-43759311-A-G p.His108Arg missense ABHD5 1 83254 1.20114E-5 41627 0 8.2371E-6
3-43759315-A-C p.Gln309Pro missense ABHD5 5 83268 6.00471E-5 41634 0 NA
3-43759319-C-T p.Leu111Phe missense ABHD5 2 83266 2.40194E-5 41633 0 3.1835E-5
3-43759321-T-TA p.Thr112fs frameshift ABHD5 1 83260 1.20106E-5 41630 0 NA
3-43759323-C-T p.Arg312* stop_gained ABHD5 1 83246 1.20126E-5 41623 0 2.47109E-5
3-43759324-G-A p.Arg312Gln missense ABHD5 2 83234 2.40286E-5 41617 0 1.64745E-5
3-43759343-G-A p.Asp119Asn missense ABHD5 1 83206 1.20184E-5 41603 0 NA
3-43759347-A-G p.Asn120Ser missense+splice_region ABHD5 1 83176 1.20227E-5 41588 0 3.29484E-5
3-43759938-A-G p.Tyr122Cys missense ABHD5 1 82808 1.20761E-5 41404 0 5.03525E-4
3-43759952-A-T p.Thr127Ser missense ABHD5 1 82902 1.20624E-5 41451 0 NA
3-43759954-A-T p.His327Leu missense ABHD5 1 82876 1.20662E-5 41438 0 NA
3-43759964-T-C p.Cys131Arg missense ABHD5 1 82914 1.20607E-5 41457 0 3.18471E-5
3-43759980-G-A p.Arg136Lys missense ABHD5 2 82858 2.41377E-5 41429 0 7.96337E-6
3-43759985-C-G p.Gln138Glu missense ABHD5 3 82850 3.621E-5 41425 0 NA
3-43759987-A-G p.Asn338Ser missense ABHD5 1 82828 1.20732E-5 41414 0 1.64739E-5
3-43759999-A-G p.Lys342Arg missense ABHD5 2 82846 2.41412E-5 41423 0 6.36902E-5
3-43760009-C-T p.Arg146* stop_gained ABHD5 1 82776 1.20808E-5 41388 0 1.19451E-5
3-43760012-C-T p.His147Tyr missense ABHD5 1 82776 1.20808E-5 41388 0 NA
3-43760029-A-G p.Thr152Thr synonymous ABHD5 3 82730 3.62625E-5 41365 0 1.79181E-4
3-43760032-G-C p.Leu153Leu synonymous ABHD5 2 82712 2.41803E-5 41356 0 NA
3-43760053-G-C n.309G>C splice_region ABHD5 5 82594 6.05371E-5 41297 0 9.55536E-5
3-43760058-CTGAT-C n.309+6_309+9delTGAT splice_region ABHD5 1 82526 1.21174E-5 41263 0 NA