Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-58224312-C-T c.-85C>T 5_prime_UTR_premature_start_codon_gain ABHD6 8 94 0.0851064 47 0 0.140636
3-58242283-C-G c.-25-6C>G splice_region ABHD6 1 83004 1.20476E-5 41502 0 NA
3-58242291-G-A c.-23G>A splice_region ABHD6 29 83102 3.48969E-4 41551 0 0.00125
3-58242318-A-G p.Asp2Gly missense ABHD6 1 83298 1.20051E-5 41649 0 NA
3-58242333-A-G p.Asn7Ser missense ABHD6 2 83328 2.40015E-5 41664 0 1.40109E-4
3-58242335-A-T p.Met8Leu missense ABHD6 13 83326 1.56014E-4 41663 0 9.55353E-5
3-58242346-T-C p.Ile11Ile synonymous ABHD6 1 83336 1.19996E-5 41668 0 NA
3-58242348-C-T p.Ala12Val missense ABHD6 8 83338 9.59946E-5 41669 0 2.4717E-5
3-58242352-C-T p.Gly13Gly synonymous ABHD6 3 83336 3.59988E-5 41668 0 3.29544E-5
3-58242353-G-A p.Gly14Ser missense ABHD6 2 83336 2.39992E-5 41668 0 1.59148E-5
3-58242362-G-T p.Ala17Ser missense ABHD6 2 83334 2.39998E-5 41667 1 NA
3-58242369-C-T p.Pro19Leu missense ABHD6 2 83316 2.4005E-5 41658 0 NA
3-58242371-A-G p.Ile20Val missense ABHD6 3 83318 3.60066E-5 41659 0 4.94242E-5
3-58242372-T-A p.Ile20Asn missense ABHD6 1 83314 1.20028E-5 41657 0 NA
3-58242376-G-A p.Leu21Leu synonymous ABHD6 1 83318 1.20022E-5 41659 0 NA
3-58242400-G-A p.Leu29Leu synonymous ABHD6 7 83210 8.41245E-5 41605 0 3.9795E-5
3-58242411-C-T p.Ala33Val missense ABHD6 2 83120 2.40616E-5 41560 0 NA
3-58242427-T-C p.Tyr38Tyr synonymous ABHD6 1 82928 1.20587E-5 41464 0 NA
3-58242431-T-G p.Trp40Gly missense+splice_region ABHD6 1 82858 1.20688E-5 41429 0 NA
3-58242432-G-A p.Trp40* stop_gained ABHD6 1 82830 1.20729E-5 41415 0 NA
3-58242434-T-TACTGGCGGAGGACATTGGGCATGC c.119+2_119+3insACTGGCGGAGGACATTGGGCATGC splice_region ABHD6 2 82780 2.41604E-5 41390 1 NA
3-58242435-A-ACTGGCGG c.119+3_119+4insCTGGCGG splice_region ABHD6 5 82768 6.04098E-5 41384 2 NA
3-58242435-A-ACTGGCGGAGGACATTGGGCATGCAAGTCCGCTATGTTC c.119+3_119+4insCTGGCGGAGGACATTGGGCATGCAAGTCCGCTATGTTC splice_region ABHD6 2 82768 2.41639E-5 41384 1 NA
3-58244128-A-G c.120-2A>G splice_acceptor ABHD6 1 51026 1.95979E-5 25513 0 1.91939E-4
3-58244132-T-C p.Met41Thr missense+splice_region ABHD6 1 50966 1.96209E-5 25483 0 8.07103E-6
3-58244136-C-T p.Ser42Ser synonymous ABHD6 74 50912 0.00145349 25456 1 0.00138779
3-58244140-G-A p.Val44Met missense ABHD6 7 50822 1.37736E-4 25411 0 8.59763E-4
3-58244148-T-C p.Asp46Asp synonymous ABHD6 1 50858 1.96626E-5 25429 0 3.1835E-5
3-58244355-A-G c.*185+4A>G splice_region ABHD6 2 43930 4.5527E-5 21965 0 1.29349E-4
3-58244358-C-T c.*185+7C>T splice_region ABHD6 1 43600 2.29358E-5 21800 0 NA
3-58252910-T-C c.120-6T>C splice_region ABHD6 1 83312 1.20031E-5 41656 0 3.98375E-6
3-58252917-T-A p.Tyr41Asn missense+splice_region ABHD6 1 83350 1.19976E-5 41675 0 NA
3-58252932-T-C p.Leu46Leu synonymous ABHD6 3 83366 3.59859E-5 41683 0 4.37699E-5
3-58252936-G-A p.Gly47Asp missense ABHD6 1 83374 1.19941E-5 41687 0 3.18532E-5
3-58252947-C-T p.Arg51Cys missense ABHD6 5 83370 5.99736E-5 41685 0 7.16047E-5
3-58252948-G-A p.Arg51His missense ABHD6 31 83372 3.71827E-4 41686 0 2.94396E-4
3-58252950-T-C p.Tyr52His missense ABHD6 2 83382 2.3986E-5 41691 0 1.64775E-5
3-58252951-A-G p.Tyr52Cys missense ABHD6 1 83384 1.19927E-5 41692 0 3.97766E-6
3-58252958-CC-TT p.HisHis54HisTyr missense ABHD6 1 83382 1.1993E-5 41691 0 NA
3-58252960-A-G p.His55Arg missense ABHD6 4 83388 4.79685E-5 41694 0 1.98874E-5
3-58252967-C-T p.Asp57Asp synonymous ABHD6 1 83386 1.19924E-5 41693 0 NA
3-58252981-A-C p.Tyr62Ser missense ABHD6 1 83394 1.19913E-5 41697 0 NA
3-58252982-T-C p.Tyr62Tyr synonymous ABHD6 1 83394 1.19913E-5 41697 0 6.36902E-5
3-58252989-C-T p.Arg65Trp missense ABHD6 5 83396 5.99549E-5 41698 0 1.98885E-5
3-58252990-G-A p.Arg65Gln missense ABHD6 1 83394 1.19913E-5 41697 0 2.47166E-5
3-58252992-G-A p.Gly66Ser missense ABHD6 4 83402 4.79605E-5 41701 0 6.36943E-5
3-58252993-G-T p.Gly66Val missense ABHD6 1 83390 1.19918E-5 41695 0 1.64783E-5
3-58252998-C-T p.Pro68Ser missense ABHD6 2 83398 2.39814E-5 41699 0 NA
3-58253003-G-A p.Gly69Gly synonymous ABHD6 1 83398 1.19907E-5 41699 0 NA
3-58253022-A-C p.Met76Leu missense ABHD6 1 83388 1.19921E-5 41694 0 1.59129E-5
3-58253030-C-T p.His78His synonymous ABHD6 1 83364 1.19956E-5 41682 0 3.18431E-5
3-58253031-G-A p.Gly79Arg missense ABHD6 1 83360 1.19962E-5 41680 0 NA
3-58253041-C-A p.Ala82Asp missense ABHD6 3 83348 3.59937E-5 41674 0 9.94764E-5
3-58253046-A-G p.Lys84Glu missense ABHD6 1 83326 1.20011E-5 41663 0 NA
3-58253061-A-G p.Ser89Gly missense ABHD6 1 83262 1.20103E-5 41631 0 3.98007E-6
3-58253063-T-C p.Ser89Ser synonymous ABHD6 1 83234 1.20143E-5 41617 0 NA
3-58253072-G-GTTCCTTCCAAAGAACCTGCACTTGGTCTGC c.276_276+1insTTCCTTCCAAAGAACCTGCACTTGGTCTGC splice_donor ABHD6 2 83154 2.40518E-5 41577 1 NA
3-58253072-G-GTTCCTTCCAAAGAACCTGCACTTGGTCTGCGTGGACATGCCA c.276_276+1insTTCCTTCCAAAGAACCTGCACTTGGTCTGCGTGGACATGCCA splice_donor ABHD6 2 83154 2.40518E-5 41577 1 NA
3-58253078-A-G c.276+6A>G splice_region ABHD6 3 83064 3.61167E-5 41532 0 NA
3-58255040-G-T c.277-8G>T splice_region ABHD6 2 82688 2.41873E-5 41344 0 NA
3-58255055-C-T p.Pro95Leu missense ABHD6 1 82926 1.20589E-5 41463 0 NA
3-58255062-C-A p.Asn97Lys missense ABHD6 1 82994 1.20491E-5 41497 0 NA
3-58255068-C-G p.His99Gln missense ABHD6 1 83032 1.20435E-5 41516 0 NA
3-58255072-G-A p.Val101Ile missense ABHD6 1 83038 1.20427E-5 41519 0 NA
3-58255077-C-T p.Cys102Cys synonymous ABHD6 10 83052 1.20406E-4 41526 0 1.59215E-4
3-58255087-C-G p.Pro106Ala missense ABHD6 1 83090 1.20351E-5 41545 0 NA
3-58255104-C-T p.Thr111Thr synonymous ABHD6 1 83082 1.20363E-5 41541 0 NA
3-58255108-C-T p.Arg113Cys missense ABHD6 1 83076 1.20372E-5 41538 0 NA
3-58255121-A-T p.Asp117Val missense ABHD6 2 83010 2.40935E-5 41505 0 8.34557E-6
3-58255136-A-G p.Asp122Gly missense ABHD6 1 82912 1.2061E-5 41456 0 3.98473E-6
3-58255161-G-GTTT c.390_390+1insTTT splice_donor ABHD6 2 82500 2.42424E-5 41250 1 NA
3-58256675-A-G p.Lys136Arg missense ABHD6 1 83238 1.20137E-5 41619 0 3.25913E-5
3-58256682-C-CA p.Pro141fs frameshift ABHD6 1 83254 1.20114E-5 41627 0 NA
3-58256682-C-A p.Asn138Lys missense ABHD6 1 83256 1.20111E-5 41628 0 3.19366E-5
3-58256682-C-G p.Asn138Lys missense ABHD6 1 83256 1.20111E-5 41628 0 8.41453E-6
3-58256692-T-C p.Phe142Leu missense ABHD6 1 83244 1.20129E-5 41622 0 4.05268E-6
3-58256713-A-G p.Met149Val missense ABHD6 1 83278 1.2008E-5 41639 0 5.03525E-4
3-58256736-G-A p.Val156Val synonymous ABHD6 1 83256 1.20111E-5 41628 0 8.25996E-6
3-58256756-C-T p.Ser163Leu missense ABHD6 1 83248 1.20123E-5 41624 0 9.55779E-5
3-58256757-G-A p.Ser163Ser synonymous ABHD6 1 83244 1.20129E-5 41622 0 2.01322E-5
3-58256778-C-T p.Leu170Leu synonymous ABHD6 3 83150 3.60794E-5 41575 0 3.18674E-5
3-58256779-G-A p.Val171Met missense ABHD6 1 83154 1.20259E-5 41577 0 2.49888E-5
3-58256792-G-GCC c.523+1_523+2insCC splice_donor ABHD6 3 82976 3.6155E-5 41488 1 NA
3-58256792-G-GCCTGCAGTACTCAACTGACAATCAATTTGTACAACGGC c.523+1_523+2insCCTGCAGTACTCAACTGACAATCAATTTGTACAACGGC splice_donor ABHD6 1 82976 1.20517E-5 41488 0 NA
3-58260377-T-A c.524-8T>A splice_region ABHD6 1 82994 1.20491E-5 41497 0 NA
3-58260378-C-T c.524-7C>T splice_region ABHD6 2 82992 2.40987E-5 41496 0 3.3601E-5
3-58260399-A-G p.Thr180Ala missense ABHD6 120 83084 0.00144432 41542 1 0.00106732
3-58260410-A-G p.Gln183Gln synonymous ABHD6 1 83098 1.2034E-5 41549 0 3.1841E-5
3-58260410-A-T p.Gln183His missense ABHD6 1 83098 1.2034E-5 41549 0 NA
3-58260420-C-A p.Arg187Arg synonymous ABHD6 1 83084 1.2036E-5 41542 0 NA
3-58260420-C-T p.Arg187Trp missense ABHD6 4 83084 4.8144E-5 41542 0 4.77715E-5
3-58260421-G-A p.Arg187Gln missense ABHD6 2 83088 2.40709E-5 41544 0 3.18451E-5
3-58260425-C-T p.Leu188Leu synonymous ABHD6 1 83092 1.20349E-5 41546 0 8.25151E-6
3-58260431-A-G p.Glu190Glu synonymous ABHD6 2 83100 2.40674E-5 41550 0 1.19398E-5
3-58260436-A-G p.Gln192Arg missense ABHD6 1 83088 1.20354E-5 41544 0 NA
3-58260438-G-C p.Gly193Arg missense ABHD6 1 83082 1.20363E-5 41541 0 3.98032E-6
3-58260446-C-T p.Ala195Ala synonymous ABHD6 1 83068 1.20383E-5 41534 0 1.64946E-5
3-58260447-G-A p.Ala196Thr missense ABHD6 2 83072 2.40755E-5 41536 0 3.18443E-5
3-58260449-C-T p.Ala196Ala synonymous ABHD6 4 83108 4.81301E-5 41554 0 4.94813E-5
3-58260450-G-A p.Val197Met missense ABHD6 5 83110 6.01612E-5 41555 0 2.86624E-4
3-58260473-G-A p.Pro204Pro synonymous ABHD6 20 83076 2.40743E-4 41538 0 1.91095E-4
3-58260477-A-C p.Thr206Pro missense ABHD6 2 83068 2.40767E-5 41534 0 3.18552E-5
3-58260478-C-T p.Thr206Ile missense ABHD6 1 83076 1.20372E-5 41538 0 NA
3-58260486-G-C p.Glu209Gln missense ABHD6 1 83072 1.20378E-5 41536 0 NA
3-58260505-A-C p.Gln215Pro missense ABHD6 1 83004 1.20476E-5 41502 0 3.1839E-5
3-58260517-A-G p.Tyr219Cys missense ABHD6 1 83002 1.20479E-5 41501 0 4.12807E-5
3-58260518-T-C p.Tyr219Tyr synonymous ABHD6 1 82992 1.20494E-5 41496 0 NA
3-58260522-C-T p.Arg221Cys missense ABHD6 6 82978 7.23083E-5 41489 0 3.30508E-5
3-58260523-G-A p.Arg221His missense ABHD6 1 82964 1.20534E-5 41482 0 3.18512E-5
3-58260539-G-A p.Gln226Gln synonymous ABHD6 2 82914 2.41214E-5 41457 0 8.28706E-6
3-58260542-G-GATCCTGCAAGGCCTT c.681_681+1insATCCTGCAAGGCCTT splice_donor ABHD6 3 82896 3.61899E-5 41448 0 NA
3-58260546-A-C c.681+4A>C splice_region ABHD6 49 82900 5.91074E-4 41450 0 2.73051E-4
3-58260547-C-T c.681+5C>T splice_region ABHD6 337 82866 0.00406681 41433 4 0.00875685
3-58270811-G-A c.682-1G>A splice_acceptor ABHD6 2 83284 2.40142E-5 41642 0 8.2371E-6
3-58270829-C-T p.Val233Val synonymous ABHD6 4 83338 4.79973E-5 41669 0 1.27364E-4
3-58270836-C-T p.Arg236Cys missense ABHD6 1 83350 1.19976E-5 41675 0 2.47109E-5
3-58270837-G-A p.Arg236His missense ABHD6 1 83352 1.19973E-5 41676 0 3.18099E-5
3-58270853-C-A p.Asn241Lys missense ABHD6 1 83352 1.19973E-5 41676 0 3.9763E-6
3-58270860-C-T p.Arg244* stop_gained ABHD6 1 83332 1.20002E-5 41666 0 1.19289E-5
3-58270868-T-A c.736+2T>A splice_donor ABHD6 1 83326 1.20011E-5 41663 0 6.3674E-5
3-58271072-C-G c.737-8C>G splice_region ABHD6 1 83168 1.20239E-5 41584 0 4.95205E-5
3-58271093-C-T p.Ile250Ile synonymous ABHD6 2 83276 2.40165E-5 41638 0 4.37449E-5
3-58271099-T-G p.Ser252Arg missense ABHD6 37 83290 4.44231E-4 41645 0 0.00100908
3-58271116-C-T p.Ser258Phe missense ABHD6 2 83294 2.40113E-5 41647 0 NA
3-58271122-A-G p.His260Arg missense ABHD6 2 83290 2.40125E-5 41645 0 8.23913E-6
3-58271126-G-C p.Gln261His missense ABHD6 1 83292 1.2006E-5 41646 0 NA
3-58271131-T-C p.Met263Thr missense ABHD6 2 83300 2.40096E-5 41650 0 6.36862E-5
3-58271141-C-G p.Ile266Met missense ABHD6 1 83304 1.20042E-5 41652 0 3.18431E-5
3-58271142-A-G p.Lys267Glu missense ABHD6 1 83298 1.20051E-5 41649 0 1.59066E-5
3-58271149-C-T p.Pro269Leu missense ABHD6 1 83274 1.20085E-5 41637 0 6.25E-4
3-58271150-G-A p.Pro269Pro synonymous ABHD6 2 83264 2.402E-5 41632 0 6.36699E-5
3-58271153-G-A p.Thr270Thr synonymous ABHD6 1 83232 1.20146E-5 41616 0 7.95361E-5
3-58271162-C-CT p.Trp274fs frameshift ABHD6 1 83220 1.20163E-5 41610 0 3.97722E-6
3-58271172-C-T p.Gln277* stop_gained ABHD6 1 83174 1.2023E-5 41587 0 NA
3-58271173-A-G p.Gln277Arg missense ABHD6 2 83166 2.40483E-5 41583 0 NA
3-58271182-T-TGCTGGATGTGTCTGGGGCAGAC c.837+2_837+3insGCTGGATGTGTCTGGGGCAGAC splice_region ABHD6 1 83060 1.20395E-5 41530 0 NA
3-58271183-A-G c.837+3A>G splice_region ABHD6 3 83042 3.61263E-5 41521 0 1.98942E-5
3-58271187-A-T c.837+7A>T splice_region ABHD6 1 83024 1.20447E-5 41512 0 8.25069E-6
3-58279307-GC-G c.838-8delC splice_region ABHD6 1 82842 1.20712E-5 41421 0 NA
3-58279318-G-A p.Val280Val splice_region+synonymous ABHD6 1 83040 1.20424E-5 41520 0 3.98038E-6
3-58279330-T-C p.Ser284Ser synonymous ABHD6 1 83134 1.20288E-5 41567 0 7.42832E-5
3-58279339-C-T p.Asp287Asp synonymous ABHD6 26 83188 3.12545E-4 41594 0 8.57817E-4
3-58279340-A-G p.Met288Val missense ABHD6 3 83212 3.60525E-5 41606 0 NA
3-58279347-C-T p.Ala290Val missense ABHD6 1 83254 1.20114E-5 41627 0 3.97731E-6
3-58279357-T-G p.Ile293Met missense ABHD6 1 83302 1.20045E-5 41651 0 NA
3-58279362-A-G p.Asn295Ser missense ABHD6 14 83318 1.68031E-4 41659 0 5.04032E-4
3-58279363-C-T p.Asn295Asn synonymous ABHD6 4 83314 4.80111E-5 41657 0 2.4719E-5
3-58279388-T-C p.Cys304Arg missense ABHD6 1 83350 1.19976E-5 41675 0 8.23886E-6
3-58279391-G-A p.Gly305Arg missense ABHD6 2 83354 2.3994E-5 41677 0 7.95273E-6
3-58279400-G-A p.Val308Ile missense ABHD6 1 83346 1.19982E-5 41673 0 3.29582E-5
3-58279407-T-C p.Met310Thr missense ABHD6 7 83360 8.39731E-5 41680 0 2.2293E-4
3-58279424-A-T p.Thr316Ser missense ABHD6 2 83338 2.39987E-5 41669 0 NA
3-58279442-G-A p.Asp322Asn missense ABHD6 14 83298 1.68071E-4 41649 0 7.15803E-5
3-58279444-C-A p.Asp322Glu missense ABHD6 1 83294 1.20057E-5 41647 0 NA
3-58279461-A-G p.His328Arg missense ABHD6 1 83174 1.2023E-5 41587 0 NA
3-58279468-A-G p.Thr330Thr synonymous ABHD6 3 83112 3.60959E-5 41556 0 3.97814E-6
3-58279470-A-G p.Asp331Gly missense ABHD6 22 83084 2.64792E-4 41542 0 0.00375
3-58279470-A-T p.Asp331Val missense ABHD6 1 83086 1.20357E-5 41543 0 NA
3-58279474-C-A p.Asn332Lys missense ABHD6 1 83022 1.2045E-5 41511 0 NA
3-58279477-C-G p.Asn333Lys missense ABHD6 2 82982 2.41016E-5 41491 0 2.48443E-5
3-58279484-C-G p.Leu336Val missense ABHD6 1 82794 1.20782E-5 41397 0 NA
3-58280128-G-A n.38+1G>A splice_donor ABHD6 1 44910 2.22668E-5 22455 0 3.18654E-5