Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-52002570-C-T c.*872G>A splice_region ABHD14B 3 3074 9.75927E-4 1537 0 0.00493756
3-52003453-C-T p.Gly206Arg missense ABHD14B 1 82392 1.21371E-5 41196 0 NA
3-52003466-C-A p.Leu201Leu synonymous ABHD14B 14 82546 1.69602E-4 41273 0 6.37918E-5
3-52003466-C-CA p.Asp202fs frameshift ABHD14B 2 82546 2.42289E-5 41273 0 NA
3-52003500-A-G p.Leu190Pro missense ABHD14B 1 82226 1.21616E-5 41113 0 8.00147E-6
3-52003506-CAG-C p.Cys188fs frameshift ABHD14B 3 82106 3.65381E-5 41053 0 4.14051E-5
3-52003506-CA-C p.Cys188fs frameshift ABHD14B 1 82106 1.21794E-5 41053 0 4.00545E-6
3-52003518-G-A p.Ala184Val missense ABHD14B 3 81734 3.67044E-5 40867 0 5.79547E-5
3-52003519-C-T p.Ala184Thr missense ABHD14B 1 81732 1.22351E-5 40866 0 8.27842E-6
3-52003537-C-T p.Val178Met missense ABHD14B 3 81444 3.68351E-5 40722 0 2.98166E-4
3-52003539-C-T p.Arg177Gln missense ABHD14B 6 81310 7.37917E-5 40655 0 3.18878E-5
3-52003539-C-G p.Arg177Pro missense ABHD14B 2 81310 2.45972E-5 40655 0 4.01539E-6
3-52003540-G-A p.Arg177Trp missense ABHD14B 5 81318 6.1487E-5 40659 0 1.65684E-5
3-52003541-G-A p.His176His synonymous ABHD14B 1 81284 1.23025E-5 40642 0 NA
3-52003542-T-C p.His176Arg missense ABHD14B 3 81290 3.69049E-5 40645 0 NA
3-52003543-G-A p.His176Tyr missense ABHD14B 2 81258 2.4613E-5 40629 0 9.11381E-5
3-52003543-G-C p.His176Asp missense ABHD14B 2 81258 2.4613E-5 40629 0 NA
3-52003547-G-A p.Pro174Pro synonymous ABHD14B 1 81104 1.23298E-5 40552 0 NA
3-52003553-C-T p.Gln172Gln synonymous ABHD14B 1 80986 1.23478E-5 40493 0 6.37796E-5
3-52003558-T-A p.Lys171* stop_gained ABHD14B 2 80800 2.47525E-5 40400 0 NA
3-52003560-A-G p.Leu170Pro missense ABHD14B 34 80760 4.21E-4 40380 0 0.00151515
3-52003563-T-C p.His169Arg missense ABHD14B 2 80538 2.4833E-5 40269 0 NA
3-52003564-G-T p.His169Asn missense ABHD14B 1 80370 1.24425E-5 40185 0 NA
3-52003592-C-A p.Gln159His missense ABHD14B 2 78110 2.56049E-5 39055 0 8.37002E-6
3-52003601-A-G p.Tyr156Tyr synonymous ABHD14B 2 77186 2.59114E-5 38593 0 2.52712E-5
3-52003612-G-C p.Leu153Val missense ABHD14B 3 75580 3.9693E-5 37790 0 9.56267E-5
3-52003851-C-A p.Arg187Ser missense ABHD14B 9 81676 1.10191E-4 40838 0 1.91205E-4
3-52003865-C-T p.Val183Met missense ABHD14B 2 82194 2.43327E-5 41097 0 NA
3-52003867-C-T p.Gly182Glu missense ABHD14B 2 82290 2.43043E-5 41145 0 NA
3-52003870-T-C p.Gln181Arg missense ABHD14B 1 82362 1.21415E-5 41181 0 1.73488E-5
3-52003880-G-GC p.Leu178fs frameshift ABHD14B 3 82556 3.6339E-5 41278 0 6.37146E-5
3-52003888-A-G p.Ile175Thr missense ABHD14B 43 82738 5.19713E-4 41369 1 7.64526E-4
3-52003897-G-A p.Ala172Val missense ABHD14B 35 82840 4.22501E-4 41420 0 8.60201E-4
3-52003900-C-T p.Trp171* stop_gained ABHD14B 1 82878 1.20659E-5 41439 0 NA
3-52003906-T-G p.His169Pro missense ABHD14B 2 82922 2.41191E-5 41461 0 8.31628E-6
3-52003909-AC-A p.Val168fs frameshift ABHD14B 1 82954 1.20549E-5 41477 0 NA
3-52003926-G-C p.Cys162Trp missense ABHD14B 1 82924 1.20592E-5 41462 0 NA
3-52003934-A-G p.Cys160Arg missense ABHD14B 1 82974 1.2052E-5 41487 0 NA
3-52003941-C-G p.Lys157Asn missense ABHD14B 1 82976 1.20517E-5 41488 0 NA
3-52003942-T-A p.Lys157Met missense ABHD14B 3 82988 3.61498E-5 41494 0 2.39973E-5
3-52003948-C-T p.Cys155Tyr missense ABHD14B 1 82990 1.20496E-5 41495 0 NA
3-52003961-T-C p.Lys149Glu missense+splice_region ABHD14B 1 83024 1.20447E-5 41512 0 3.98896E-6
3-52003964-C-T p.Val148Met missense ABHD14B 1 83036 1.2043E-5 41518 0 NA
3-52004003-TGGG-T p.Pro134del conservative_inframe_deletion ABHD14B 2 83206 2.40367E-5 41603 0 1.19355E-5
3-52004012-C-T p.Val132Met missense ABHD14B 1 83170 1.20236E-5 41585 0 6.37064E-5
3-52004026-G-A p.Pro127Leu missense ABHD14B 12 83190 1.44248E-4 41595 0 6.37064E-5
3-52004045-C-T p.Ala121Thr missense ABHD14B 1 83122 1.20305E-5 41561 0 NA
3-52004046-C-T p.Thr120Thr synonymous ABHD14B 7 83126 8.42095E-5 41563 0 8.2661E-5
3-52004047-G-A p.Thr120Met missense ABHD14B 4 83124 4.81209E-5 41562 0 4.1338E-5
3-52004052-G-A p.Phe118Phe synonymous ABHD14B 1 83130 1.20294E-5 41565 0 NA
3-52004057-GC-TT p.LeuPro116LeuThr missense ABHD14B 2 83118 2.40622E-5 41559 0 NA
3-52004071-C-T p.Gly112Asp missense ABHD14B 1 83098 1.2034E-5 41549 0 NA
3-52004081-A-T p.Ser109Thr missense ABHD14B 1 83120 1.20308E-5 41560 0 NA
3-52004097-C-CG p.Val104fs frameshift ABHD14B 506 83054 0.00609242 41527 3 0.00653241
3-52004098-G-A p.Pro103Leu missense ABHD14B 4 83056 4.81603E-5 41528 0 2.8985E-5
3-52004103-G-C p.Gly101Gly synonymous ABHD14B 45 83010 5.42103E-4 41505 0 0.006875
3-52004107-A-G p.Leu100Pro missense ABHD14B 1 83048 1.20412E-5 41524 0 NA
3-52004117-C-T p.Ala97Thr missense ABHD14B 1 83020 1.20453E-5 41510 0 NA
3-52004130-C-A p.Ala92Ala synonymous ABHD14B 1 83014 1.20462E-5 41507 0 9.04404E-6
3-52004130-C-T p.Ala92Ala synonymous ABHD14B 2 83014 2.40923E-5 41507 0 3.18492E-5
3-52004131-G-A p.Ala92Val missense ABHD14B 6 82998 7.22909E-5 41499 0 6.37064E-5
3-52004142-G-A c.267-3C>T splice_region ABHD14B 1 82970 1.20525E-5 41485 0 NA
3-52004150-C-T p.Ala88Thr missense ABHD14B 2 82906 2.41237E-5 41453 0 3.18512E-5
3-52004161-A-G p.Ile84Thr missense ABHD14B 1 82804 1.20767E-5 41402 0 2.4257E-5
3-52004162-T-C p.Ile84Val missense ABHD14B 3 82792 3.62354E-5 41396 0 2.42671E-5
3-52004171-G-A p.Pro81Ser missense ABHD14B 4 82604 4.84238E-5 41302 0 8.41981E-5
3-52004171-G-T p.Pro81Thr missense ABHD14B 1 82604 1.2106E-5 41302 0 5.26238E-6
3-52004173-G-A p.Ala80Val missense ABHD14B 1 82500 1.21212E-5 41250 0 5.31152E-6
3-52004186-T-TA p.Lys76fs frameshift ABHD14B 3 82180 3.65052E-5 41090 0 9.3437E-6
3-52004188-G-C p.Ser75Cys missense ABHD14B 15 82070 1.82771E-4 41035 0 1.8708E-5
3-52004625-GC-G p.Ala88fs frameshift ABHD14B 2 53194 3.75982E-5 26597 0 3.18654E-5
3-52004633-T-C p.Gln85Gln synonymous ABHD14B 5 53242 9.39108E-5 26621 0 3.18654E-5
3-52004643-A-G p.Leu82Pro missense ABHD14B 1 53242 1.87822E-5 26621 0 0.00125
3-52004648-C-T p.Glu80Glu splice_region+synonymous ABHD14B 1 53236 1.87843E-5 26618 0 NA
3-52004649-T-C p.Glu80Gly missense+splice_region ABHD14B 2 53240 3.75657E-5 26620 0 3.18857E-5
3-52004653-G-A c.238-3C>T splice_region ABHD14B 3 53242 5.63465E-5 26621 0 6.37186E-5
3-52004783-C-A p.Ala78Ser missense ABHD14B 1 53210 1.87935E-5 26605 0 NA
3-52004792-C-T p.Glu75Lys missense ABHD14B 1 53148 1.88154E-5 26574 0 0.001875
3-52004793-G-A p.Gly74Gly synonymous ABHD14B 3 53128 5.64674E-5 26564 0 NA
3-52005475-C-A c.211+1G>T splice_donor ABHD14B 1 81942 1.22038E-5 40971 0 NA
3-52005487-A-G p.Ile67Thr missense ABHD14B 1 82128 1.21761E-5 41064 0 NA
3-52005500-G-A p.Arg63Trp missense ABHD14B 2 82296 2.43025E-5 41148 0 6.76172E-5
3-52005512-G-C p.Gln59Glu missense ABHD14B 2 82438 2.42607E-5 41219 0 7.72559E-5
3-52005529-G-A p.Thr53Ile missense ABHD14B 1 82614 1.21045E-5 41307 0 4.01136E-6
3-52005533-C-A p.Gly52Cys missense ABHD14B 1 82630 1.21021E-5 41315 0 NA
3-52005535-A-G p.Leu51Pro missense ABHD14B 9 82634 1.08914E-4 41317 0 3.60667E-5
3-52005537-G-A p.Asn50Asn synonymous ABHD14B 1 82658 1.2098E-5 41329 0 NA
3-52005551-C-T p.Glu46Lys missense ABHD14B 14 82676 1.69336E-4 41338 0 6.78979E-5
3-52005552-G-A p.Ser45Ser synonymous ABHD14B 4 82704 4.83653E-5 41352 0 6.25E-4
3-52005559-A-G p.Phe43Ser missense ABHD14B 1 82702 1.20916E-5 41351 0 NA
3-52005562-C-T p.Arg42His missense ABHD14B 2 82708 2.41815E-5 41354 0 NA
3-52005563-G-A p.Arg42Cys missense ABHD14B 7 82716 8.46269E-5 41358 0 3.18776E-5
3-52005578-G-A p.Leu37Leu synonymous ABHD14B 6 82708 7.25444E-5 41354 0 5.03525E-4
3-52005588-G-T p.Phe33Leu missense ABHD14B 2 82710 2.41809E-5 41355 0 8.43327E-6
3-52005589-A-C p.Phe33Cys missense ABHD14B 1 82708 1.20907E-5 41354 0 NA
3-52005593-G-A p.Arg32Cys missense ABHD14B 2 82666 2.41937E-5 41333 0 5.03525E-4
3-52005599-G-A p.Gln30* stop_gained ABHD14B 1 82622 1.21033E-5 41311 0 1.19927E-5
3-52005603-A-G p.Ser28Ser synonymous ABHD14B 1 82614 1.21045E-5 41307 0 2.53271E-5
3-52005608-C-T p.Gly27Ser missense ABHD14B 13 82548 1.57484E-4 41274 0 1.43979E-4
3-52005609-G-A p.Pro26Pro synonymous ABHD14B 6 82572 7.26639E-5 41286 0 6.25E-4
3-52005610-G-T p.Pro26His missense ABHD14B 3 82560 3.63372E-5 41280 0 NA
3-52005618-C-G p.Glu23Asp missense ABHD14B 1 82536 1.21159E-5 41268 0 NA
3-52005622-C-T p.Arg22Gln missense ABHD14B 4 82498 4.8486E-5 41249 0 1.72022E-4
3-52005622-C-G p.Arg22Pro missense ABHD14B 1 82498 1.21215E-5 41249 0 1.6002E-5
3-52005624-G-A p.Phe21Phe synonymous ABHD14B 11 82470 1.33382E-4 41235 0 2.55086E-4
3-52005633-G-A p.Ala18Ala synonymous ABHD14B 1 82368 1.21406E-5 41184 0 NA
3-52005634-G-A p.Ala18Val missense ABHD14B 12 82332 1.45751E-4 41166 0 5.42057E-4
3-52005634-GCCTGGCCCTGCA-G p.Val14_Gln17del disruptive_inframe_deletion ABHD14B 1 82332 1.21459E-5 41166 0 NA
3-52005638-G-A p.Gln17* stop_gained ABHD14B 446 82314 0.00541828 41157 3 0.0115767
3-52005642-C-G p.Gln15His missense ABHD14B 1 82272 1.21548E-5 41136 0 NA
3-52005650-G-C p.Gln13Glu missense ABHD14B 1 82180 1.21684E-5 41090 0 1.71571E-5
3-52005655-G-A p.Thr11Ile missense ABHD14B 3 82034 3.65702E-5 41017 0 6.02695E-5
3-52005663-G-A p.Arg8Arg synonymous ABHD14B 1 81750 1.22324E-5 40875 0 8.78549E-6
3-52005665-G-A p.Arg8Cys missense ABHD14B 357 81656 0.004372 40828 2 0.00366829
3-52005669-C-T p.Glu6Glu synonymous ABHD14B 1 81510 1.22684E-5 40755 0 NA
3-52005674-C-T p.Val5Met missense ABHD14B 4 81332 4.91811E-5 40666 0 6.37674E-5
3-52005675-G-A p.Ser4Ser synonymous ABHD14B 1 81208 1.23141E-5 40604 0 6.25782E-4
3-52005684-C-CATGCCTGCTGCT c.-10_2dupAGCAGCAGGCAT start_lost ABHD14B 3 81012 3.70316E-5 40506 0 NA
3-52005685-A-G p.Met1? start_lost ABHD14B 4 80978 4.93961E-5 40489 0 6.37471E-5
3-52005720-G-T c.-28-6C>A splice_region ABHD14B 1 79790 1.25329E-5 39895 0 NA
3-52005732-G-A c.-46C>T 5_prime_UTR_premature_start_codon_gain ABHD14B 453 79518 0.00569682 39759 3 0.0118972
3-52005754-C-T c.-68G>A 5_prime_UTR_premature_start_codon_gain ABHD14B 1 78764 1.26962E-5 39382 0 5.50473E-6
3-52005777-G-A c.-91C>T 5_prime_UTR_premature_start_codon_gain ABHD14B 2 78468 2.54881E-5 39234 0 0.00375
3-52005825-T-C c.-29+3A>G splice_region ABHD14B 1 76186 1.31258E-5 38093 0 NA
3-52005829-T-C c.-30A>G splice_region ABHD14B 3 75638 3.96626E-5 37819 0 9.56145E-5
3-52005877-T-C c.-191A>G 5_prime_UTR_premature_start_codon_gain ABHD14B 1 65114 1.53577E-5 32557 0 NA
3-52007977-G-A c.-29+4C>T splice_region ABHD14B 18 78164 2.30285E-4 39082 0 6.72828E-4
3-52007978-T-C c.-29+3A>G splice_region ABHD14B 1 78048 1.28126E-5 39024 0 7.39754E-6
3-52007981-C-G c.-29G>C splice_region ABHD14B 2 78102 2.56075E-5 39051 0 NA
3-52007983-G-A c.-31C>T splice_region ABHD14B 1 78080 1.28074E-5 39040 0 3.18796E-5
3-52008022-G-A c.-70C>T 5_prime_UTR_premature_start_codon_gain ABHD14B 2 77022 2.59666E-5 38511 0 8.3612E-5
3-52008180-G-A c.-228C>T 5_prime_UTR_premature_start_codon_gain ABHD14B 2 47442 4.21567E-5 23721 0 NA