Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-23067221-C-G p.Ala2Ala synonymous ABHD4 1 80142 1.24779E-5 40071 0 NA
14-23067226-A-G p.Asp4Gly missense ABHD4 1 79996 1.25006E-5 39998 0 6.40279E-6
14-23067235-A-C p.Gln7Pro missense ABHD4 1 79936 1.251E-5 39968 0 3.20131E-5
14-23067320-T-C c.-81T>C 5_prime_UTR_premature_start_codon_gain ABHD4 1 77700 1.287E-5 38850 0 6.46939E-6
14-23067350-A-T c.-51A>T 5_prime_UTR_premature_start_codon_gain ABHD4 2 75946 2.63345E-5 37973 0 3.26797E-4
14-23067356-G-T c.-50+5G>T splice_region ABHD4 2 75160 2.66099E-5 37580 0 6.74636E-6
14-23067359-T-A c.-50+8T>A splice_region ABHD4 1 74828 1.3364E-5 37414 0 1.35437E-5
14-23069083-T-G p.Cys2Gly missense ABHD4 1 9012 1.10963E-4 4506 0 3.90546E-5
14-23069085-C-T p.Cys2Cys synonymous ABHD4 1 9012 1.10963E-4 4506 0 3.1841E-5
14-23069093-C-T p.Ser5Leu missense ABHD4 1 9012 1.10963E-4 4506 0 7.81079E-6
14-23070580-G-A p.Gly11Asp missense ABHD4 2 83318 2.40044E-5 41659 0 7.95368E-6
14-23070581-C-T c.-40C>T 5_prime_UTR_premature_start_codon_gain ABHD4 1 83318 1.20022E-5 41659 0 NA
14-23070585-C-T c.-36C>T 5_prime_UTR_premature_start_codon_gain ABHD4 1 83328 1.20008E-5 41664 0 9.56084E-5
14-23070602-C-T p.Pro18Pro synonymous ABHD4 7 83328 8.40054E-5 41664 0 1.19305E-5
14-23070604-C-T p.Thr19Met missense ABHD4 1 83334 1.19999E-5 41667 0 3.9769E-6
14-23070605-G-A c.-16G>A 5_prime_UTR_premature_start_codon_gain ABHD4 1 83332 1.20002E-5 41666 0 1.19302E-5
14-23070609-C-T p.Arg21Cys missense ABHD4 1 83330 1.20005E-5 41665 0 1.98851E-5
14-23070610-G-A p.Arg21His missense ABHD4 2 83324 2.40027E-5 41662 0 6.76073E-5
14-23070614-C-T p.Pro22Pro synonymous ABHD4 2 83330 2.4001E-5 41665 0 1.19303E-5
14-23070655-T-G p.Leu36Arg missense ABHD4 1 83224 1.20158E-5 41612 0 3.97725E-6
14-23070663-A-C c.112+3A>C splice_region ABHD4 1 83146 1.2027E-5 41573 0 NA
14-23072316-C-G p.Ala45Gly missense ABHD4 1 81476 1.22736E-5 40738 0 8.06322E-6
14-23072326-A-G p.Val48Val synonymous ABHD4 3 81922 3.66202E-5 40961 0 9.65717E-5
14-23072327-T-A p.Ser49Thr missense ABHD4 2 81922 2.44135E-5 40961 0 4.02366E-6
14-23072330-C-T p.Leu50Phe missense ABHD4 1 82012 1.21933E-5 41006 0 3.18552E-5
14-23072356-G-A p.Thr58Thr synonymous ABHD4 3 82498 3.63645E-5 41249 0 1.74103E-4
14-23072361-C-T p.Thr52Ile missense+splice_region ABHD4 1 82534 1.21162E-5 41267 0 8.28679E-6
14-23072365-G-A c.156+3G>A splice_region ABHD4 1 82562 1.21121E-5 41281 0 3.18573E-5
14-23072367-GC-G p.Glu64fs frameshift ABHD4 1 82534 1.21162E-5 41267 0 4.01294E-6
14-23072367-G-A p.Ser62Asn missense ABHD4 1 82534 1.21162E-5 41267 0 NA
14-23072371-C-T p.Pro63Pro synonymous ABHD4 7 82546 8.48012E-5 41273 0 1.59317E-4
14-23072372-G-A p.Glu64Lys missense ABHD4 4 82556 4.8452E-5 41278 0 2.23044E-4
14-23072373-A-G p.Glu64Gly missense ABHD4 4 82538 4.84625E-5 41269 0 3.18532E-5
14-23072380-C-T p.Asn66Asn synonymous ABHD4 1 82534 1.21162E-5 41267 0 6.25E-4
14-23072384-C-T p.Arg68Cys missense ABHD4 5 82534 6.05811E-5 41267 0 6.25E-4
14-23072385-G-A p.Arg68His missense ABHD4 4 82532 4.8466E-5 41266 0 9.55657E-5
14-23072387-A-AC p.Val72fs frameshift ABHD4 1 82534 1.21162E-5 41267 0 NA
14-23072389-C-A p.Thr69Thr synonymous ABHD4 1 82562 1.21121E-5 41281 0 8.28185E-6
14-23072406-A-G p.His75Arg missense ABHD4 1 82496 1.21218E-5 41248 0 NA
14-23072413-T-TG p.Gly80fs frameshift ABHD4 1 82398 1.21362E-5 41199 0 8.28102E-6
14-23072417-G-A p.Gly79Ser missense ABHD4 1 82250 1.21581E-5 41125 0 NA
14-23072419-C-T p.Gly79Gly synonymous ABHD4 17 82218 2.06767E-4 41109 0 6.25E-4
14-23072422-C-T p.Gly80Gly synonymous ABHD4 2 82238 2.43197E-5 41119 0 5.05051E-4
14-23072435-A-T p.Ile85Phe missense ABHD4 1 82498 1.21215E-5 41249 0 NA
14-23072440-C-T p.Leu86Leu synonymous ABHD4 3 82526 3.63522E-5 41263 0 NA
14-23072449-C-T p.Asp89Asp synonymous ABHD4 3 82536 3.63478E-5 41268 0 8.27609E-6
14-23072453-C-T p.Leu91Leu synonymous ABHD4 1 82568 1.21112E-5 41284 0 NA
14-23072462-C-T p.Arg94Cys missense ABHD4 3 82570 3.63328E-5 41285 0 2.80408E-5
14-23072463-G-A p.Arg94His missense ABHD4 6 82568 7.26674E-5 41284 0 6.37308E-5
14-23072465-C-T p.Arg95Cys missense ABHD4 9 82614 1.0894E-4 41307 0 3.31027E-5
14-23072466-G-A p.Arg95His missense ABHD4 1 82636 1.21013E-5 41318 0 3.20333E-5
14-23072470-A-G p.Thr96Thr synonymous ABHD4 1 82740 1.20861E-5 41370 0 9.55718E-5
14-23072478-C-G p.Thr99Ser missense ABHD4 2 82792 2.41569E-5 41396 0 NA
14-23072479-C-T p.Thr99Thr synonymous ABHD4 1 82820 1.20744E-5 41410 0 3.99687E-6
14-23072482-C-T p.Phe100Phe synonymous ABHD4 2 82836 2.41441E-5 41418 0 3.18593E-5
14-23072483-G-A p.Asp101Asn missense ABHD4 3 82858 3.62065E-5 41429 0 1.65352E-5
14-23072486-C-T c.113-7C>T splice_region ABHD4 2 82900 2.41255E-5 41450 0 6.37146E-5
14-23072497-C-T p.Phe39Phe synonymous ABHD4 10 82926 1.20589E-4 41463 0 6.25E-4
14-23072498-G-A p.Gly40Arg missense ABHD4 3 82926 3.61768E-5 41463 0 5.98836E-5
14-23072501-C-T p.Arg41* stop_gained ABHD4 2 82926 2.41179E-5 41463 0 1.65328E-5
14-23072502-G-A p.Arg41Gln missense ABHD4 5 82982 6.0254E-5 41491 0 2.47954E-5
14-23072514-C-T p.Pro45Leu missense ABHD4 1 83104 1.20331E-5 41552 0 NA
14-23072528-G-A p.Asp50Asn missense ABHD4 1 83170 1.20236E-5 41585 0 NA
14-23072533-G-A p.Gly83Arg missense ABHD4 25 83202 3.00474E-4 41601 0 0.00251762
14-23072535-A-AG p.Ala54fs frameshift ABHD4 1 83208 1.20181E-5 41604 0 NA
14-23072537-G-T p.Gly53Trp missense ABHD4 2 83226 2.4031E-5 41613 0 5.03525E-4
14-23072546-G-A p.Asp56Asn missense ABHD4 1 83268 1.20094E-5 41634 0 NA
14-23072547-A-G p.Asp56Gly missense ABHD4 1 83258 1.20109E-5 41629 0 8.27157E-6
14-23072551-G-A p.Glu57Glu synonymous ABHD4 1 83278 1.2008E-5 41639 0 4.37734E-5
14-23072556-T-C p.Val59Ala missense ABHD4 1 83282 1.20074E-5 41641 0 NA
14-23072560-A-G p.Thr60Thr synonymous ABHD4 1 83290 1.20062E-5 41645 0 9.55779E-5
14-23072563-G-A p.Ser61Ser synonymous ABHD4 17 83290 2.04106E-4 41645 0 3.82385E-4
14-23072565-T-C p.Ile62Thr missense ABHD4 2 83286 2.40136E-5 41643 0 3.18674E-5
14-23072567-G-T p.Glu63* stop_gained ABHD4 2 83290 2.40125E-5 41645 0 NA
14-23072567-G-A p.Glu63Lys missense ABHD4 2 83290 2.40125E-5 41645 0 NA
14-23072578-G-A p.Arg66Arg synonymous ABHD4 9 83258 1.08098E-4 41629 0 1.43472E-4
14-23072593-C-A p.Ile71Ile synonymous ABHD4 30 83122 3.60915E-4 41561 0 2.39047E-4
14-23072601-T-C p.Met74Thr missense ABHD4 4 83112 4.81278E-5 41556 0 6.37308E-5
14-23072610-T-C p.Leu77Pro missense ABHD4 2 83086 2.40714E-5 41543 0 NA
14-23072610-TG-T p.His79fs frameshift ABHD4 1 83086 1.20357E-5 41543 0 NA
14-23072614-G-A p.Gly78Gly synonymous ABHD4 7 83014 8.43231E-5 41507 1 3.18634E-5
14-23072618-A-G p.Ser80Gly missense ABHD4 1 83002 1.20479E-5 41501 0 NA
14-23072624-G-A p.Gly82Arg missense ABHD4 1 82944 1.20563E-5 41472 0 NA
14-23072633-C-T p.Leu85Leu synonymous ABHD4 60 82826 7.2441E-4 41413 0 3.13272E-4
14-23072641-T-G p.Thr87Thr synonymous ABHD4 2 82760 2.41663E-5 41380 0 NA
14-23072651-A-G p.Ile91Val missense ABHD4 2 82684 2.41885E-5 41342 0 5.03525E-4
14-23072654-A-G p.Lys92Glu missense ABHD4 20 82646 2.41996E-4 41323 0 7.6477E-4
14-23072656-G-A p.Lys92Lys synonymous ABHD4 86 82620 0.00104091 41310 0 0.00216629
14-23072661-C-T p.Pro94Leu missense ABHD4 3 82604 3.63179E-5 41302 0 3.18573E-5
14-23072666-A-G p.Arg96Gly missense+splice_region ABHD4 1 82578 1.21098E-5 41289 0 9.06701E-6
14-23072817-GCCTTTAAC-G c.288-12_288-5delCCTTTAAC splice_region ABHD4 1 83326 1.20011E-5 41663 0 NA
14-23072826-A-G c.288-4A>G splice_region ABHD4 7 83356 8.39772E-5 41678 0 1.19499E-5
14-23072830-A-G p.Ser53Gly missense+splice_region ABHD4 1 83352 1.19973E-5 41676 0 NA
14-23072832-T-G p.Val97Gly missense+splice_region ABHD4 4 83352 4.79893E-5 41676 0 3.98029E-6
14-23072848-G-C p.Leu102Leu synonymous ABHD4 1 83376 1.19939E-5 41688 0 NA
14-23072868-C-T p.Pro109Leu missense ABHD4 1 83386 1.19924E-5 41693 0 3.18512E-5
14-23072873-C-T p.Arg111* stop_gained ABHD4 4 83384 4.79708E-5 41692 0 3.57944E-5
14-23072874-G-T p.Arg111Leu missense ABHD4 3 83384 3.59781E-5 41692 0 3.977E-6
14-23072874-G-A p.Arg111Gln missense ABHD4 5 83384 5.99635E-5 41692 0 3.18573E-5
14-23072875-A-G p.Arg111Arg synonymous ABHD4 1 83380 1.19933E-5 41690 0 NA
14-23072876-C-A p.Pro112Thr missense ABHD4 2 83386 2.39848E-5 41693 0 NA
14-23072877-C-T p.Pro112Leu missense ABHD4 1 83388 1.19921E-5 41694 0 4.77228E-5
14-23072880-C-T p.Thr113Ile missense ABHD4 5 83384 5.99635E-5 41692 0 5.03525E-4
14-23072883-ACC-A p.Pro115fs frameshift ABHD4 1 83390 1.19918E-5 41695 0 NA
14-23072885-C-T p.Pro115Ser missense ABHD4 2 83394 2.39825E-5 41697 0 1.64731E-5
14-23072887-C-T p.Pro115Pro synonymous ABHD4 5 83390 5.99592E-5 41695 0 1.19303E-5
14-23072887-C-CT p.Ser116fs frameshift ABHD4 1 83390 1.19918E-5 41695 0 NA
14-23072897-C-T p.Arg119Cys missense ABHD4 3 83392 3.59747E-5 41696 0 1.64728E-5
14-23072897-C-A p.Arg119Ser missense ABHD4 3 83392 3.59747E-5 41696 0 1.19298E-5
14-23072898-G-A p.Arg119His missense ABHD4 13 83386 1.55901E-4 41693 0 7.1578E-5
14-23072903-C-T p.Pro121Ser missense ABHD4 2 83384 2.39854E-5 41692 0 3.29457E-5
14-23072905-C-T p.Pro121Pro synonymous ABHD4 2 83386 2.39848E-5 41693 0 1.59058E-5
14-23072911-C-CCGGGAA p.Ala123_Trp124insArgGlu conservative_inframe_insertion ABHD4 1 83394 1.19913E-5 41697 0 NA
14-23072914-G-T p.Trp124Cys missense ABHD4 1 83394 1.19913E-5 41697 0 NA
14-23072914-G-GAGAGAATGTGAAGA p.Val125fs frameshift ABHD4 1 83394 1.19913E-5 41697 0 NA
14-23072923-C-T p.Ala127Ala synonymous ABHD4 3 83378 3.59807E-5 41689 0 3.18492E-5
14-23072924-G-A p.Val128Met missense ABHD4 1 83378 1.19936E-5 41689 0 1.64728E-5
14-23072927-G-A p.Ala129Thr missense ABHD4 132 83374 0.00158323 41687 2 0.00956697
14-23072938-A-G p.Leu132Leu synonymous ABHD4 1 83366 1.19953E-5 41683 0 3.18573E-5
14-23072942-C-T p.Arg134Cys missense ABHD4 1 83352 1.19973E-5 41676 0 8.23655E-6
14-23072950-T-G p.Asn136Lys missense ABHD4 1 83340 1.1999E-5 41670 0 3.97662E-6
14-23072954-T-C p.Leu138Leu synonymous ABHD4 7 83326 8.40074E-5 41663 0 0.0020141
14-23072967-G-A p.Arg142Gln missense ABHD4 6 83240 7.20807E-5 41620 0 3.18613E-5
14-23072969-G-A p.Val143Ile missense ABHD4 9 83242 1.08118E-4 41621 0 2.54826E-4
14-23072972-G-A p.Ala144Thr missense ABHD4 2 83196 2.40396E-5 41598 0 NA
14-23072981-T-C p.Trp147Arg missense ABHD4 1 83138 1.20282E-5 41569 0 NA
14-23072987-G-A c.442+3G>A splice_region ABHD4 1 83010 1.20467E-5 41505 0 6.25E-4
14-23073159-T-A n.984T>A splice_region ABHD4 1 52290 1.91241E-5 26145 0 NA
14-23074772-T-C n.733T>C splice_region ABHD4 1 33228 3.00951E-5 16614 0 NA
14-23074772-T-A n.733T>A splice_region ABHD4 1 33228 3.00951E-5 16614 0 NA
14-23075337-TG-T p.Val152fs frameshift ABHD4 2 82786 2.41587E-5 41393 0 NA
14-23075345-C-T p.Arg154* stop_gained ABHD4 1 82834 1.20723E-5 41417 0 3.20664E-5
14-23075346-G-A p.Arg154Gln missense ABHD4 3 82868 3.62022E-5 41434 0 3.18532E-5
14-23075352-G-A p.Arg156Gln missense ABHD4 2 82898 2.4126E-5 41449 0 4.02398E-5
14-23075353-G-T p.Ala171Ser missense ABHD4 1 82910 1.20613E-5 41455 0 1.001E-5
14-23075356-G-A p.Gly172Arg missense ABHD4 4 82904 4.82486E-5 41452 0 5.03525E-4
14-23075358-A-T p.Asp158Val missense ABHD4 4 82906 4.82474E-5 41453 0 2.9188E-5
14-23075365-AC-A p.Arg161fs frameshift ABHD4 52 82960 6.26808E-4 41480 0 8.76758E-4
14-23075366-C-T p.Arg161Cys missense ABHD4 2 82954 2.41097E-5 41477 0 NA
14-23075370-A-G p.Lys162Arg missense ABHD4 1 82996 1.20488E-5 41498 0 NA
14-23075371-G-C p.Lys162Asn missense ABHD4 4 82992 4.81974E-5 41496 0 7.98786E-6
14-23075403-C-T p.Ser173Leu missense ABHD4 1 82918 1.20601E-5 41459 0 9.58865E-6
14-23075405-G-C p.Glu174Gln missense ABHD4 3 82908 3.61847E-5 41454 0 NA
14-23075412-T-G p.Ile176Ser missense ABHD4 1 82882 1.20653E-5 41441 0 NA
14-23075425-C-T p.Asn180Asn synonymous ABHD4 5 82686 6.04697E-5 41343 0 3.18451E-5
14-23075428-A-G p.Ala181Ala synonymous ABHD4 1 82648 1.20995E-5 41324 0 6.36983E-5
14-23075437-C-T p.Pro184Pro splice_region+synonymous ABHD4 1 82556 1.2113E-5 41278 0 NA
14-23075442-G-A c.554+3G>A splice_region ABHD4 1 82448 1.21289E-5 41224 0 1.22982E-5
14-23078623-TTGACAGTGG-T p.Gly186del splice_acceptor ABHD4 3 83228 3.60456E-5 41614 0 3.99655E-6
14-23078632-G-C p.Gly186Ala missense+splice_region ABHD4 1 83302 1.20045E-5 41651 0 NA
14-23078650-C-T p.Ala192Val missense ABHD4 1 83348 1.19979E-5 41674 0 NA
14-23078664-T-C p.Phe197Leu missense ABHD4 2 83370 2.39894E-5 41685 0 NA
14-23078676-C-T p.Arg201Trp missense ABHD4 1 83364 1.19956E-5 41682 0 9.55657E-5
14-23078677-G-A p.Arg201Gln missense ABHD4 3 83360 3.59885E-5 41680 0 3.18512E-5
14-23078679-C-T p.Arg202Cys missense ABHD4 4 83356 4.79869E-5 41678 0 4.11943E-5
14-23078680-G-A p.Arg202His missense ABHD4 1 83368 1.1995E-5 41684 0 0.00100705
14-23078694-C-T p.Arg207* stop_gained ABHD4 5 83376 5.99693E-5 41688 0 8.23683E-6
14-23078695-G-A p.Arg207Gln missense ABHD4 11 83376 1.31932E-4 41688 0 9.14709E-5
14-23078709-C-T p.Arg212* stop_gained ABHD4 5 83390 5.99592E-5 41695 0 3.18654E-5
14-23078710-G-A p.Arg212Gln missense ABHD4 1 83392 1.19916E-5 41696 0 6.37227E-5
14-23078720-G-T p.Val215Val synonymous ABHD4 1 83402 1.19901E-5 41701 0 8.23669E-6
14-23078725-T-C p.Ile217Thr missense ABHD4 2 83410 2.39779E-5 41705 0 NA
14-23078730-A-G p.Met219Val missense ABHD4 22 83400 2.63789E-4 41700 0 4.14145E-4
14-23078738-C-T p.Tyr221Tyr synonymous ABHD4 9 83408 1.07903E-4 41704 0 7.95342E-6
14-23078739-G-A p.Gly222Arg missense ABHD4 2 83406 2.39791E-5 41703 0 6.37552E-5
14-23078744-C-T p.Ser223Ser synonymous ABHD4 38 83408 4.55592E-4 41704 0 0.00151057
14-23078745-G-A p.Asp224Asn missense ABHD4 1 83408 1.19893E-5 41704 0 6.25E-4
14-23078751-T-C p.Trp226Arg missense ABHD4 1 83416 1.19881E-5 41708 0 8.23737E-6
14-23078753-G-A p.Trp226* stop_gained ABHD4 1 83416 1.19881E-5 41708 0 3.18593E-5
14-23078767-C-T p.Thr231Met missense ABHD4 1 83420 1.19875E-5 41710 0 2.4715E-5
14-23078768-G-A p.Thr231Thr synonymous ABHD4 6 83420 7.19252E-5 41710 0 0.00100705
14-23078788-A-G p.Gln304Arg missense ABHD4 1 83410 1.1989E-5 41705 0 8.2545E-6
14-23078794-C-T p.Pro306Leu missense ABHD4 1 83404 1.19898E-5 41702 0 3.97871E-6
14-23078795-G-A p.Pro306Pro synonymous ABHD4 2 83406 2.39791E-5 41703 0 6.37389E-5
14-23078804-T-C p.Tyr309Tyr synonymous ABHD4 4 83390 4.79674E-5 41695 0 4.14394E-5
14-23078808-C-T p.Arg311* stop_gained ABHD4 3 83370 3.59842E-5 41685 0 1.6611E-5
14-23078809-G-A p.Arg311Gln missense ABHD4 9 83362 1.07963E-4 41681 0 4.38139E-5
14-23078809-G-T p.Arg311Leu missense ABHD4 1 83362 1.19959E-5 41681 0 NA
14-23078810-A-T p.Arg311Arg synonymous ABHD4 6897 83190 0.0829066 41595 445 0.117604
14-23078813-C-G p.Asp312Glu missense ABHD4 1 83358 1.19964E-5 41679 0 NA
14-23079821-T-C p.Ala332Ala synonymous ABHD4 2 82836 2.41441E-5 41418 0 NA
14-23079829-A-G p.Glu335Gly missense ABHD4 3 82724 3.62652E-5 41362 0 0.00125
14-23079830-G-A p.Glu335Glu synonymous ABHD4 1 82722 1.20887E-5 41361 0 NA
14-23079836-C-T p.Ile337Ile synonymous ABHD4 2 82634 2.42031E-5 41317 0 1.65369E-5
14-23079840-G-A p.Asp339Asn missense ABHD4 121 82476 0.00146709 41238 0 9.36203E-4
14-23079853-G-C p.Ter343Serext*? stop_lost ABHD4 1 82098 1.21806E-5 41049 0 1.65733E-5
14-23080601-C-T n.152+3C>T splice_region ABHD4 3 33342 8.99766E-5 16671 0 6.37146E-5
14-23080602-G-A n.152+4G>A splice_region ABHD4 224 33782 0.00663075 16891 1 0.00586137
14-23080602-G-T n.152+4G>T splice_region ABHD4 1 33810 2.9577E-5 16905 0 NA