Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-108870813-C-T c.-215C>T 5_prime_UTR_premature_start_codon_gain ABHD13 7 1770 0.0039548 885 0 0.0028754
13-108871008-G-GA c.-21+1_-21+2insA splice_donor ABHD13 2 38 0.0526316 19 0 NA
13-108871008-G-GATACTTACAGAGAGCTACAATGGAAAAGTCCTGGATGCTGTGGAACTTTGT c.-21+1_-21+2insATACTTACAGAGAGCTACAATGGAAAAGTCCTGGATGCTGTGGAACTTTGT splice_donor ABHD13 2 40 0.05 20 1 NA
13-108881545-A-G c.-20-2A>G splice_acceptor ABHD13 1 82702 1.20916E-5 41351 0 NA
13-108881577-C-T p.Ser4Phe missense ABHD13 1 83022 1.2045E-5 41511 0 NA
13-108881596-T-C p.Phe10Phe synonymous ABHD13 1 83058 1.20398E-5 41529 0 4.86239E-6
13-108881597-G-A p.Val11Ile missense ABHD13 3 83054 3.61211E-5 41527 0 3.18593E-5
13-108881612-A-G p.Ile16Val missense ABHD13 4 83074 4.81498E-5 41537 0 3.50408E-4
13-108881639-C-A p.Leu25Ile missense ABHD13 5 83086 6.01786E-5 41543 0 2.23029E-4
13-108881677-T-C p.Phe37Phe synonymous ABHD13 1 83040 1.20424E-5 41520 0 3.99543E-6
13-108881683-G-A p.Leu39Leu synonymous ABHD13 1 83014 1.20462E-5 41507 0 1.6605E-5
13-108881710-A-G p.Leu48Leu synonymous ABHD13 3 82954 3.61646E-5 41477 0 NA
13-108881712-T-C p.Ile49Thr missense ABHD13 3 82952 3.61655E-5 41476 0 1.40981E-4
13-108881717-A-G p.Ile51Val missense ABHD13 1 82944 1.20563E-5 41472 0 0.00100705
13-108881723-A-G p.Ile53Val missense ABHD13 5 82928 6.02933E-5 41464 0 NA
13-108881745-T-G p.Phe60Cys missense ABHD13 1 82940 1.20569E-5 41470 0 8.2938E-6
13-108881755-A-T p.Val63Val synonymous ABHD13 5 82914 6.03034E-5 41457 0 1.40999E-4
13-108881800-T-A p.Val78Val synonymous ABHD13 2 82926 2.41179E-5 41463 0 1.65412E-5
13-108881801-C-CTTTTAAAAATCCACAATATAATAAA p.Pro79fs frameshift ABHD13 1 82922 1.20595E-5 41461 0 NA
13-108881809-C-T p.Pro81Pro synonymous ABHD13 10 82924 1.20592E-4 41462 0 6.61091E-5
13-108881816-A-G p.Ile84Val missense ABHD13 1 82926 1.20589E-5 41463 0 NA
13-108881848-A-G p.Lys94Lys synonymous ABHD13 2 82896 2.41266E-5 41448 0 NA
13-108881850-A-G p.Asp95Gly missense ABHD13 1 82880 1.20656E-5 41440 0 7.97207E-6
13-108881858-C-T p.Arg98Cys missense ABHD13 20 82854 2.41388E-4 41427 0 1.99325E-4
13-108881859-G-A p.Arg98His missense ABHD13 21 82844 2.53488E-4 41422 0 5.94668E-4
13-108881861-C-T p.Leu99Leu synonymous ABHD13 1 82854 1.20694E-5 41427 0 NA
13-108881871-T-C p.Ile102Thr missense ABHD13 4 82832 4.82905E-5 41416 0 3.30453E-5
13-108881879-C-G p.Arg105Gly missense ABHD13 3 82800 3.62319E-5 41400 0 3.18796E-5
13-108881886-C-T p.Thr107Ile missense ABHD13 1 82790 1.20788E-5 41395 0 3.18735E-5
13-108881889-G-A p.Gly108Glu missense ABHD13 1 82768 1.2082E-5 41384 0 2.3942E-5
13-108881893-C-A p.Asp109Glu missense ABHD13 5 82758 6.04171E-5 41379 0 1.65355E-5
13-108881900-C-T p.Pro112Ser missense ABHD13 8 82742 9.66861E-5 41371 0 1.71673E-4
13-108881901-C-G p.Pro112Arg missense ABHD13 2 82738 2.41727E-5 41369 0 NA
13-108881904-A-G p.Tyr113Cys missense ABHD13 1 82724 1.20884E-5 41362 0 3.18756E-5
13-108881929-T-C p.His121His synonymous ABHD13 3 82518 3.63557E-5 41259 0 6.37511E-5
13-108881947-A-C p.Ile127Ile synonymous ABHD13 1 82350 1.21433E-5 41175 0 NA
13-108881960-C-T p.Pro132Ser missense ABHD13 1 82238 1.21598E-5 41119 0 1.19972E-5
13-108882010-T-G p.Val148Val synonymous ABHD13 2 82048 2.4376E-5 41024 0 2.48065E-5
13-108882048-G-C p.Ser161Thr missense ABHD13 2 82296 2.43025E-5 41148 0 8.25832E-6
13-108882062-T-C p.Tyr166His missense ABHD13 3 82430 3.63945E-5 41215 0 1.59368E-4
13-108882065-T-G p.Leu167Val missense ABHD13 2 82474 2.42501E-5 41237 0 3.99074E-6
13-108882078-C-T p.Ala171Val missense ABHD13 2 82636 2.42025E-5 41318 1 NA
13-108882092-G-A p.Val176Met missense ABHD13 3 82778 3.62415E-5 41389 0 2.39294E-5
13-108882109-C-A p.Asp181Glu missense ABHD13 3 82864 3.62039E-5 41432 0 3.19048E-5
13-108882140-C-T p.Arg192Cys missense ABHD13 1 83056 1.20401E-5 41528 0 2.78964E-5
13-108882142-T-A p.Arg192Arg synonymous ABHD13 2 83070 2.40761E-5 41535 0 2.11122E-4
13-108882167-C-T p.His201Tyr missense ABHD13 2 83102 2.40668E-5 41551 0 1.19453E-5
13-108882182-A-G p.Asn206Asp missense ABHD13 1 83074 1.20375E-5 41537 0 NA
13-108882187-A-C p.Ser207Ser synonymous ABHD13 1 83070 1.2038E-5 41535 0 3.982E-6
13-108882189-A-G p.His208Arg missense ABHD13 2 83068 2.40767E-5 41534 0 3.98197E-6
13-108882199-A-G p.Ser211Ser synonymous ABHD13 3 83066 3.61159E-5 41533 0 NA
13-108882209-G-A p.Val215Met missense ABHD13 22 83044 2.6492E-4 41522 0 5.03525E-4
13-108882237-A-G p.His224Arg missense ABHD13 5 82944 6.02816E-5 41472 0 7.97207E-6
13-108882240-T-C p.Met225Thr missense ABHD13 2 82926 2.41179E-5 41463 0 NA
13-108882248-A-AAAAG p.Thr228fs frameshift ABHD13 1 82920 1.20598E-5 41460 0 NA
13-108882249-C-G p.Thr228Ser missense ABHD13 1 82914 1.20607E-5 41457 0 NA
13-108882258-C-T p.Ser231Leu missense ABHD13 2 82920 2.41196E-5 41460 0 NA
13-108882267-C-T p.Pro234Leu missense ABHD13 1 82878 1.20659E-5 41439 0 1.99599E-5
13-108882273-G-A p.Arg236His missense ABHD13 1 82876 1.20662E-5 41438 0 2.47938E-5
13-108882301-T-C p.Asn245Asn synonymous ABHD13 1 82760 1.20831E-5 41380 0 1.65442E-5
13-108882331-G-A p.Gln255Gln synonymous ABHD13 1 82472 1.21253E-5 41236 0 NA
13-108882335-A-G p.Arg257Gly missense ABHD13 1 82422 1.21327E-5 41211 0 NA
13-108882352-C-T p.Phe262Phe synonymous ABHD13 10 82160 1.21714E-4 41080 0 6.37592E-5
13-108882370-T-C p.Asp268Asp synonymous ABHD13 1 81814 1.22228E-5 40907 0 8.00032E-6
13-108882373-A-G p.Gln269Gln synonymous ABHD13 1 81816 1.22225E-5 40908 0 NA
13-108882379-T-C p.Ile271Ile synonymous ABHD13 1 81784 1.22273E-5 40892 0 8.27417E-6
13-108882399-A-G p.Gln278Arg missense ABHD13 1 81782 1.22276E-5 40891 0 1.40682E-4
13-108882409-A-C p.Glu281Asp missense ABHD13 1 81812 1.22231E-5 40906 0 NA
13-108882422-C-T p.Arg286Trp missense ABHD13 2 81918 2.44147E-5 40959 0 0.00100705
13-108882435-T-C p.Leu290Ser missense ABHD13 3 82046 3.65649E-5 41023 0 1.65503E-5
13-108882450-A-T p.Asp295Val missense ABHD13 1 82154 1.21723E-5 41077 0 NA
13-108882462-A-G p.Asn299Ser missense ABHD13 3 82244 3.64768E-5 41122 0 2.48316E-5
13-108882481-A-C p.Gln305His missense ABHD13 1 82360 1.21418E-5 41180 0 NA
13-108882490-C-A p.Phe308Leu missense ABHD13 1 82378 1.21392E-5 41189 0 NA
13-108882492-C-T p.Thr309Ile missense ABHD13 11 82394 1.33505E-4 41197 0 8.29641E-5
13-108882496-A-C p.Ala310Ala synonymous ABHD13 1 82398 1.21362E-5 41199 0 3.18817E-5
13-108882496-A-G p.Ala310Ala synonymous ABHD13 1 82398 1.21362E-5 41199 0 7.99239E-6
13-108882506-T-C p.Phe314Leu missense ABHD13 1 82444 1.21294E-5 41222 0 NA
13-108882513-A-G p.Lys316Arg missense ABHD13 1 82444 1.21294E-5 41222 0 1.60443E-5
13-108882517-A-G p.Glu317Glu synonymous ABHD13 2 82446 2.42583E-5 41223 0 3.18735E-5
13-108882520-C-T p.Val318Val synonymous ABHD13 50 82422 6.06634E-4 41211 0 0.00187617
13-108882520-C-G p.Val318Val synonymous ABHD13 1 82422 1.21327E-5 41211 0 4.02538E-6
13-108882521-G-A p.Val319Ile missense ABHD13 12 82436 1.45567E-4 41218 0 0.00151057
13-108882526-G-C p.Lys320Asn missense ABHD13 1 82428 1.21318E-5 41214 0 8.50123E-6
13-108882548-G-A p.Ala328Thr missense ABHD13 10 82336 1.21454E-4 41168 0 4.69131E-5
13-108882563-A-G p.Asn333Asp missense ABHD13 1 82196 1.2166E-5 41098 0 NA
13-108882572-A-G p.Ile336Val missense ABHD13 3 82012 3.658E-5 41006 0 2.10667E-4