Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-27346698-C-T c.-119C>T 5_prime_UTR_premature_start_codon_gain ABHD1 1 67072 1.49094E-5 33536 0 NA
2-27346731-A-G c.-86A>G 5_prime_UTR_premature_start_codon_gain ABHD1 1 73970 1.3519E-5 36985 0 NA
2-27346745-G-C c.-72G>C 5_prime_UTR_premature_start_codon_gain ABHD1 5 67886 7.36529E-5 33943 0 NA
2-27346772-C-A c.-45C>A 5_prime_UTR_premature_start_codon_gain ABHD1 1 77386 1.29222E-5 38693 0 2.82358E-5
2-27346825-C-T p.Ser3Ser synonymous ABHD1 10 82460 1.21271E-4 41230 0 0.004375
2-27346827-CC-TT p.Ser4Phe missense ABHD1 1 82548 1.21142E-5 41274 0 NA
2-27346837-C-T p.Ser7Ser synonymous ABHD1 1 82736 1.20866E-5 41368 0 3.97801E-6
2-27346839-C-T p.Pro8Leu missense ABHD1 1 82774 1.20811E-5 41387 0 3.9776E-6
2-27346841-C-G p.Gln9Glu missense ABHD1 5 82812 6.03777E-5 41406 0 1.27397E-4
2-27346841-C-A p.Gln9Lys missense ABHD1 3 82812 3.62266E-5 41406 0 2.86642E-4
2-27346844-A-G p.Asn10Asp missense ABHD1 7 82844 8.44962E-5 41422 0 1.5512E-4
2-27346851-C-A p.Thr12Asn missense ABHD1 2 82898 2.4126E-5 41449 0 1.64905E-5
2-27346857-C-CAG p.Asp15fs frameshift ABHD1 2 82988 2.40999E-5 41494 0 3.97741E-6
2-27346857-C-T p.Gln5* stop_gained ABHD1 3 82988 3.61498E-5 41494 0 7.15933E-5
2-27346874-C-T p.Leu20Phe missense ABHD1 1 83172 1.20233E-5 41586 0 2.78372E-5
2-27346886-G-GC p.Val25fs frameshift ABHD1 2 83156 2.40512E-5 41578 0 NA
2-27346890-T-C p.Val25Ala missense ABHD1 2 83150 2.40529E-5 41575 0 8.25137E-6
2-27346893-C-T p.Ala26Val missense ABHD1 1 83138 1.20282E-5 41569 0 8.2526E-6
2-27346899-A-G p.Tyr28Cys missense ABHD1 1 83062 1.20392E-5 41531 0 3.97744E-6
2-27346912-C-G p.Tyr32* stop_gained ABHD1 10 82958 1.20543E-4 41479 0 9.55414E-5
2-27346913-T-C p.Trp33Arg missense ABHD1 2 82948 2.41115E-5 41474 0 NA
2-27346918-A-G p.His25Arg missense ABHD1 1 82884 1.20651E-5 41442 0 3.97855E-6
2-27346919-T-C p.Cys35Arg missense ABHD1 1 82886 1.20648E-5 41443 0 4.13976E-5
2-27346922-G-C p.Val36Leu missense ABHD1 1 82894 1.20636E-5 41447 0 NA
2-27346923-T-C p.Val36Ala missense ABHD1 27 82872 3.25804E-4 41436 0 5.03525E-4
2-27346928-C-A p.Gln38Lys missense+splice_region ABHD1 32 82804 3.86455E-4 41402 0 0.0020141
2-27346934-G-C c.114+4G>C splice_region ABHD1 53 82700 6.40871E-4 41350 0 4.45945E-4
2-27346935-G-A c.114+5G>A splice_region ABHD1 7 82690 8.46535E-5 41345 0 0.003125
2-27351306-C-G c.115-3C>G splice_region ABHD1 1 83132 1.20291E-5 41566 0 NA
2-27351310-G-T p.Arg39Met missense+splice_region ABHD1 1 83174 1.2023E-5 41587 0 NA
2-27351315-C-T p.Arg41Trp missense ABHD1 1 83206 1.20184E-5 41603 0 3.97833E-6
2-27351316-G-A p.Arg41Gln missense ABHD1 2 83224 2.40315E-5 41612 0 1.98905E-5
2-27351328-G-C p.Gly45Ala missense ABHD1 1 83280 1.20077E-5 41640 0 NA
2-27351332-G-A p.Pro46Pro synonymous ABHD1 16 83282 1.92118E-4 41641 0 5.03525E-4
2-27351343-C-T p.Ala50Val missense ABHD1 1 83308 1.20036E-5 41654 0 2.47093E-5
2-27351355-C-A p.Pro54Gln missense ABHD1 458 83332 0.00549609 41666 4 0.0151164
2-27351363-T-C p.Ser57Pro missense ABHD1 2 83348 2.39958E-5 41674 0 5.76549E-5
2-27351367-T-C p.Ile58Thr missense ABHD1 9 83340 1.07991E-4 41670 0 1.31219E-4
2-27351368-C-T p.Ile58Ile synonymous ABHD1 4 83350 4.79904E-5 41675 0 8.23642E-6
2-27351374-C-T p.Thr60Thr synonymous ABHD1 4 83362 4.79835E-5 41681 0 3.18735E-5
2-27351375-G-A p.Glu61Lys missense ABHD1 5 83358 5.99822E-5 41679 1 6.25E-4
2-27351377-G-C p.Glu61Asp missense ABHD1 1 83362 1.19959E-5 41681 0 NA
2-27351380-T-C p.Thr62Thr synonymous ABHD1 1 83360 1.19962E-5 41680 0 NA
2-27351389-A-G p.Pro65Pro synonymous ABHD1 6 83360 7.1977E-5 41680 0 NA
2-27351389-A-C p.Pro65Pro synonymous ABHD1 1 83360 1.19962E-5 41680 0 NA
2-27351391-C-T p.Thr66Met missense ABHD1 3 83360 3.59885E-5 41680 0 7.9526E-5
2-27351392-G-A p.Thr66Thr synonymous ABHD1 3 83360 3.59885E-5 41680 0 3.29462E-5
2-27351393-C-T p.Leu67Leu synonymous ABHD1 1 83358 1.19964E-5 41679 0 1.64731E-5
2-27351395-G-A p.Leu67Leu synonymous ABHD1 2 83358 2.39929E-5 41679 0 5.03525E-4
2-27351412-G-A p.Arg73Gln missense ABHD1 4 83360 4.79846E-5 41680 0 3.19101E-5
2-27351442-A-C p.Gln83Pro missense ABHD1 1 83344 1.19985E-5 41672 0 NA
2-27351477-G-A c.275+8G>A splice_region ABHD1 1 83216 1.20169E-5 41608 0 8.23995E-6
2-27351823-C-T p.Gln96* stop_gained ABHD1 1 83300 1.20048E-5 41650 0 2.48802E-5
2-27351824-A-T p.Gln96Leu missense ABHD1 2 83302 2.4009E-5 41651 0 NA
2-27351833-A-G p.Asp99Gly missense ABHD1 2 83330 2.4001E-5 41665 0 NA
2-27351835-G-A p.Gly100Arg missense ABHD1 1 83328 1.20008E-5 41664 0 NA
2-27351846-C-T p.Leu103Leu synonymous ABHD1 2 83338 2.39987E-5 41669 0 NA
2-27351846-C-A p.Leu103Leu synonymous ABHD1 11 83338 1.31993E-4 41669 0 5.03525E-4
2-27351848-TGCTAG-T p.Asp106fs frameshift ABHD1 2 83338 2.39987E-5 41669 0 NA
2-27351851-T-C p.Leu105Pro missense ABHD1 1 83332 1.20002E-5 41666 0 8.24729E-6
2-27351852-A-C p.Leu105Leu synonymous ABHD1 1 83326 1.20011E-5 41663 0 3.97871E-6
2-27351855-C-T p.Asp106Asp synonymous ABHD1 3 83330 3.60014E-5 41665 0 9.55475E-5
2-27351856-T-C p.Trp107Arg missense ABHD1 1 83332 1.20002E-5 41666 0 1.19352E-5
2-27351856-T-A p.Trp107Arg missense ABHD1 1 83332 1.20002E-5 41666 0 8.24606E-6
2-27351906-C-G p.Pro123Pro synonymous ABHD1 2 83276 2.40165E-5 41638 0 2.4715E-5
2-27351915-G-A p.Leu126Leu synonymous ABHD1 4 83260 4.80423E-5 41630 0 2.05958E-4
2-27351919-C-T p.Leu128Phe missense ABHD1 2 83258 2.40217E-5 41629 0 7.95507E-6
2-27351932-C-T p.Thr132Ile missense ABHD1 1 83242 1.20132E-5 41621 0 8.23832E-6
2-27351941-G-A p.Ser135Asn missense ABHD1 49 83226 5.88758E-4 41613 0 3.74117E-4
2-27351947-A-G p.Asp137Gly missense ABHD1 10 83220 1.20163E-4 41610 0 1.40049E-4
2-27351948-T-G p.Asp137Glu missense ABHD1 82187 82798 0.992621 41399 40806 0.99875
2-27351948-T-A p.Asp137Glu missense ABHD1 1 83220 1.20163E-5 41610 0 1.19398E-5
2-27351952-T-C p.Tyr139His missense ABHD1 1 83208 1.20181E-5 41604 0 7.96311E-6
2-27351964-C-T p.Leu143Leu synonymous ABHD1 1 83172 1.20233E-5 41586 0 NA
2-27351973-C-G p.Gln146Glu missense ABHD1 10 83160 1.2025E-4 41580 0 1.16109E-4
2-27351996-G-A c.458+1G>A splice_donor ABHD1 1 83094 1.20346E-5 41547 0 NA
2-27351996-G-T c.458+1G>T splice_donor ABHD1 1 83094 1.20346E-5 41547 0 NA
2-27352127-TGAAAGGG-T n.728_734delAAGGGGA splice_region ABHD1 1 81246 1.23083E-5 40623 0 NA
2-27352138-A-G n.736A>G splice_region ABHD1 1 81120 1.23274E-5 40560 0 1.00653E-4
2-27352183-G-A c.459-1G>A splice_acceptor ABHD1 8 82092 9.74516E-5 41046 0 1.99268E-5
2-27352187-TGTC-T p.Val156del disruptive_inframe_deletion ABHD1 1 82184 1.21678E-5 41092 0 8.26351E-6
2-27352190-C-T p.Val155Val synonymous ABHD1 2 82224 2.43238E-5 41112 0 1.27453E-4
2-27352191-G-A p.Val156Met missense ABHD1 8 82252 9.72621E-5 41126 0 0.00100705
2-27352196-TAAC-T p.Asn159del conservative_inframe_deletion ABHD1 1 82380 1.21389E-5 41190 0 NA
2-27352204-G-A p.Arg160Gln missense ABHD1 1 82552 1.21136E-5 41276 0 6.60655E-5
2-27352211-C-T p.Cys162Cys synonymous ABHD1 1 82654 1.20986E-5 41327 0 2.47705E-5
2-27352213-G-A p.Arg163His missense ABHD1 1 82732 1.20872E-5 41366 0 6.25E-4
2-27352215-G-A p.Gly164Arg missense ABHD1 2 82786 2.41587E-5 41393 0 3.98045E-6
2-27352216-G-C p.Gly164Ala missense ABHD1 1 82764 1.20825E-5 41382 0 NA
2-27352219-A-T p.Glu165Val missense ABHD1 1 82816 1.2075E-5 41408 0 3.98042E-6
2-27352224-C-A p.Leu167Met missense ABHD1 2 82878 2.41319E-5 41439 0 NA
2-27352228-G-T p.Arg168Leu missense+splice_region ABHD1 1 82900 1.20627E-5 41450 0 NA
2-27352230-G-C c.504+1G>C splice_donor ABHD1 4 82916 4.82416E-5 41458 0 4.14462E-4
2-27352235-T-G c.504+6T>G splice_region ABHD1 2 82968 2.41057E-5 41484 0 7.95957E-6
2-27352386-A-G p.His170Arg missense ABHD1 3 83248 3.60369E-5 41624 0 6.25E-4
2-27352388-A-C p.Arg171Arg synonymous ABHD1 1 83246 1.20126E-5 41623 0 NA
2-27352391-G-A p.Ala172Thr missense ABHD1 1 83238 1.20137E-5 41619 0 NA
2-27352413-A-C p.Glu179Ala missense ABHD1 3 83224 3.60473E-5 41612 0 NA
2-27352415-G-T p.Asp180Tyr missense ABHD1 1 83220 1.20163E-5 41610 0 7.95539E-6
2-27352417-T-A p.Asp180Glu missense ABHD1 4 83216 4.80677E-5 41608 0 3.18532E-5
2-27352418-C-A p.Leu181Ile missense ABHD1 2 83218 2.40333E-5 41609 0 7.95583E-6
2-27352421-G-T p.Glu182* stop_gained ABHD1 2 83232 2.40292E-5 41616 0 NA
2-27352423-G-C p.Glu182Asp missense ABHD1 3 83220 3.6049E-5 41610 0 4.13934E-4
2-27352429-C-T p.Val184Val synonymous ABHD1 3 83230 3.60447E-5 41615 0 4.11855E-5
2-27352430-G-A p.Val185Met missense ABHD1 4 83230 4.80596E-5 41615 0 3.97991E-5
2-27352444-G-C p.Lys189Asn missense ABHD1 1 83234 1.20143E-5 41617 0 3.98102E-6
2-27352448-C-T p.Arg191Cys missense ABHD1 1 83216 1.20169E-5 41608 0 3.1841E-5
2-27352454-C-G p.Pro193Ala missense ABHD1 1 83226 1.20155E-5 41613 0 NA
2-27352471-G-T p.Leu198Leu synonymous ABHD1 69 83218 8.29148E-4 41609 2 0.00162431
2-27352481-ATC-A p.Ser203fs frameshift ABHD1 1 83216 1.20169E-5 41608 0 1.64978E-5
2-27352486-T-C p.Ser203Ser synonymous ABHD1 3 83228 3.60456E-5 41614 0 3.18573E-5
2-27352495-G-A c.617+1G>A splice_donor ABHD1 1 83188 1.2021E-5 41594 0 8.26884E-6
2-27352495-G-C c.617+1G>C splice_donor ABHD1 1 83188 1.2021E-5 41594 0 NA
2-27352497-A-G c.617+3A>G splice_region ABHD1 1 83186 1.20213E-5 41593 0 1.65401E-5
2-27352502-T-C c.617+8T>C splice_region ABHD1 1 83180 1.20221E-5 41590 0 1.65577E-5
2-27352614-T-G c.618-8T>G splice_region ABHD1 1 83130 1.20294E-5 41565 0 8.24701E-6
2-27352614-T-C c.618-8T>C splice_region ABHD1 9 83130 1.08264E-4 41565 0 2.30916E-4
2-27352623-A-ATACT p.Val209fs frameshift ABHD1 31 83154 3.72802E-4 41577 0 0.00352467
2-27352629-G-C p.Val209Leu missense ABHD1 1 83138 1.20282E-5 41569 0 8.2462E-6
2-27352634-G-A p.Leu210Leu synonymous ABHD1 20 83124 2.40604E-4 41562 0 7.32531E-4
2-27352634-G-GAT p.Asn211fs frameshift ABHD1 2 83126 2.40599E-5 41563 0 8.24688E-6
2-27352639-ACCTGGCACAGGCCAGG-A p.Leu213fs frameshift ABHD1 2 83116 2.40628E-5 41558 0 NA
2-27352642-T-C p.Leu213Pro missense ABHD1 2 83134 2.40575E-5 41567 0 NA
2-27352645-C-T p.Ala214Val missense ABHD1 1 83112 1.2032E-5 41556 0 3.18329E-5
2-27352673-G-A p.Val223Val synonymous ABHD1 4 82934 4.82311E-5 41467 0 8.25832E-6
2-27352679-A-T p.Ala225Ala synonymous ABHD1 5 82816 6.03748E-5 41408 0 6.36902E-5
2-27352681-T-C p.Leu226Pro missense ABHD1 2 82792 2.41569E-5 41396 0 NA
2-27352686-C-CT p.Ser229fs frameshift ABHD1 6 82722 7.25321E-5 41361 0 3.30644E-5
2-27352688-G-T p.Leu228Leu synonymous ABHD1 2 82710 2.41809E-5 41355 0 NA
2-27352689-T-A p.Ser229Thr missense ABHD1 1 82704 1.20913E-5 41352 0 3.18512E-5
2-27352694-A-G p.Ala230Ala synonymous ABHD1 2 82628 2.42049E-5 41314 0 NA
2-27352706-C-T p.Ser234Ser synonymous ABHD1 2 82330 2.42925E-5 41165 0 8.27595E-6
2-27352720-G-A p.Arg239His missense ABHD1 1 81752 1.22321E-5 40876 0 1.9951E-5
2-27352727-G-A p.Leu241Leu synonymous ABHD1 1 81496 1.22705E-5 40748 0 NA
2-27352746-C-T p.Leu248Leu synonymous ABHD1 4 80834 4.94841E-5 40417 0 0.00100705
2-27352756-A-G p.Asn251Ser missense ABHD1 8 80536 9.93345E-5 40268 0 0.00151057
2-27352763-CCT-C p.Leu254fs frameshift ABHD1 1 80204 1.24682E-5 40102 0 4.00054E-6
2-27352767-A-G p.Thr255Ala missense ABHD1 1 80070 1.24891E-5 40035 0 NA
2-27352785-C-T p.Leu261Phe missense ABHD1 3 79666 3.76572E-5 39833 0 NA
2-27352794-C-T p.Arg264* stop_gained ABHD1 20 79402 2.51883E-4 39701 1 6.25E-4
2-27352794-C-G p.Arg264Gly missense+splice_region ABHD1 2 79402 2.51883E-5 39701 0 4.00975E-6
2-27352795-G-A p.Arg264Gln missense+splice_region ABHD1 16 79390 2.01537E-4 39695 0 1.67255E-4
2-27352803-C-T c.791+8C>T splice_region ABHD1 1 79212 1.26243E-5 39606 0 8.37802E-6
2-27352968-T-G c.792-5T>G splice_region ABHD1 3 83298 3.60153E-5 41649 0 NA
2-27352970-C-T c.792-3C>T splice_region ABHD1 8 83298 9.60407E-5 41649 0 0.0025
2-27352974-A-G p.Asn265Asp missense+splice_region ABHD1 5 83308 6.00182E-5 41654 1 NA
2-27352983-G-A p.Val268Met missense ABHD1 2 83324 2.40027E-5 41662 0 8.23683E-6
2-27352985-G-A p.Val268Val synonymous ABHD1 1 83330 1.20005E-5 41665 0 3.97643E-6
2-27352999-T-C p.Val273Ala missense ABHD1 1 83330 1.20005E-5 41665 0 3.18634E-5
2-27353004-A-G p.Ile275Val missense ABHD1 1 83336 1.19996E-5 41668 0 NA
2-27353005-T-C p.Ile275Thr missense ABHD1 1 83334 1.19999E-5 41667 0 4.11834E-5
2-27353022-GTATAA-G c.840+5_840+9delAATAT splice_region ABHD1 1 83340 1.1999E-5 41670 0 NA
2-27353024-A-G c.840+3A>G splice_region ABHD1 3 83338 3.5998E-5 41669 0 6.37186E-5
2-27353088-A-T c.*248-7A>T splice_region ABHD1 18 83324 2.16024E-4 41662 0 0.001875
2-27353097-T-C p.Leu265Pro missense+splice_region ABHD1 19 83330 2.28009E-4 41665 0 6.25E-4
2-27353101-C-T p.Ser266Ser synonymous ABHD1 2 83334 2.39998E-5 41667 0 8.23655E-6
2-27353103-A-G p.Tyr267Cys missense ABHD1 1 83332 1.20002E-5 41666 0 2.47101E-5
2-27353110-G-A p.Lys269Lys synonymous ABHD1 2 83328 2.40015E-5 41664 0 3.18532E-5
2-27353113-C-T c.841-6C>T splice_region ABHD1 2 83326 2.40021E-5 41663 0 5.56753E-5
2-27353118-G-A c.841-1G>A splice_acceptor ABHD1 6 83332 7.20012E-5 41666 0 8.23655E-6
2-27353120-C-T p.Ala281Val missense+splice_region ABHD1 1 83328 1.20008E-5 41664 0 3.18695E-5
2-27353120-C-A p.Ala281Asp missense+splice_region ABHD1 1 83328 1.20008E-5 41664 0 3.97671E-6
2-27353123-G-A p.Arg282His missense ABHD1 4 83334 4.79996E-5 41667 0 3.18552E-5
2-27353123-G-C p.Arg282Pro missense ABHD1 1 83334 1.19999E-5 41667 0 1.64728E-5
2-27353132-G-A p.Arg285His missense ABHD1 9 83336 1.07997E-4 41668 0 4.37456E-5
2-27353139-T-G p.Phe287Leu missense ABHD1 2 83346 2.39964E-5 41673 0 1.98836E-5
2-27353143-G-A p.Glu289Lys missense ABHD1 1 83346 1.19982E-5 41673 0 NA
2-27353145-G-A p.Ser281Asn missense ABHD1 5 83344 5.99923E-5 41672 0 2.7835E-5
2-27353146-C-T p.Arg290Cys missense ABHD1 6 83346 7.19891E-5 41673 0 5.03525E-4
2-27353147-G-A p.Arg290His missense ABHD1 18 83344 2.15972E-4 41672 0 6.37552E-5
2-27353153-C-T p.Thr292Ile missense ABHD1 6 83352 7.19839E-5 41676 0 2.47093E-5
2-27353156-C-G p.Ser293Cys missense ABHD1 1 83356 1.19967E-5 41678 0 3.97633E-6
2-27353158-G-GTGGCCTTTGGATATCAAGA p.Cys301fs frameshift ABHD1 2 83358 2.39929E-5 41679 0 3.18715E-5
2-27353165-T-C p.Phe296Ser missense ABHD1 5 83358 5.99822E-5 41679 0 1.59051E-5
2-27353191-T-C p.Tyr305His missense ABHD1 1 83372 1.19944E-5 41686 0 3.18593E-5
2-27353193-C-G p.Tyr305* stop_gained ABHD1 6 83370 7.19683E-5 41685 0 3.29457E-5
2-27353201-CA-C p.Ser309fs frameshift ABHD1 2 83376 2.39877E-5 41688 0 NA
2-27353219-T-C p.Ter306Glnext*? stop_lost ABHD1 10 83378 1.19936E-4 41689 0 1.27413E-4
2-27353225-C-T p.Ala316Val missense ABHD1 1 83376 1.19939E-5 41688 0 NA
2-27353230-C-T p.Arg318Trp missense ABHD1 1 83374 1.19941E-5 41687 0 3.97633E-6
2-27353231-G-A p.Arg318Gln missense ABHD1 1 83374 1.19941E-5 41687 0 4.11848E-5
2-27353244-CTA-C p.Tyr323fs frameshift ABHD1 1 83366 1.19953E-5 41683 0 6.37024E-5
2-27353264-AC-A p.Phe331fs frameshift ABHD1 2 83360 2.39923E-5 41680 0 8.23791E-6
2-27353266-C-T p.Pro330Ser missense ABHD1 68 83362 8.15719E-4 41681 1 6.68093E-4
2-27353269-T-C p.Phe331Leu missense ABHD1 3 83358 3.59893E-5 41679 0 2.78372E-5
2-27353269-T-G p.Phe331Val missense ABHD1 2 83358 2.39929E-5 41679 0 8.23818E-6
2-27353270-T-C p.Phe331Ser missense ABHD1 1 83354 1.1997E-5 41677 0 NA
2-27353277-C-T p.Pro333Pro synonymous ABHD1 31 83348 3.71935E-4 41674 1 7.32764E-4
2-27353278-G-A p.Val334Ile missense ABHD1 1 83346 1.19982E-5 41673 0 1.6478E-5
2-27353413-A-G p.Gln340Arg missense ABHD1 3 83156 3.60768E-5 41578 0 NA
2-27353417-C-T p.Ala341Ala synonymous ABHD1 3 83140 3.60837E-5 41570 0 4.12194E-5
2-27353418-G-A p.Ala342Thr missense ABHD1 4 83134 4.81151E-5 41567 0 6.25E-4
2-27353424-C-A p.His344Asn missense ABHD1 1 83154 1.20259E-5 41577 0 3.97753E-6
2-27353431-C-A p.Pro346His missense ABHD1 31 83190 3.72641E-4 41595 0 6.10098E-4
2-27353435-C-T p.Tyr347Tyr synonymous ABHD1 9 83192 1.08183E-4 41596 2 9.55475E-5
2-27353435-C-G p.Tyr347* stop_gained ABHD1 1 83192 1.20204E-5 41596 0 3.29783E-5
2-27353436-G-A p.Val348Ile missense ABHD1 194 83184 0.00233218 41592 2 0.0135952
2-27353440-C-T p.Ala349Val missense ABHD1 1 83182 1.20218E-5 41591 0 8.24525E-6
2-27353453-A-G p.Thr353Thr synonymous ABHD1 1 83188 1.2021E-5 41594 0 NA
2-27353458-G-A p.Arg355Gln missense ABHD1 3 83176 3.60681E-5 41588 0 6.37146E-5
2-27353460-G-C p.Gly356Arg missense ABHD1 2 83174 2.4046E-5 41587 0 8.24661E-6
2-27353471-C-A p.Ile359Ile synonymous ABHD1 1 83176 1.20227E-5 41588 0 8.24715E-6
2-27353472-G-A p.Gly360Ser missense ABHD1 2 83178 2.40448E-5 41589 0 3.29859E-5
2-27353480-G-A p.Leu362Leu synonymous ABHD1 66 83190 7.93365E-4 41595 0 6.0525E-4
2-27353489-G-C p.Leu365Leu synonymous ABHD1 1 83170 1.20236E-5 41585 0 NA
2-27353495-G-A p.Pro367Pro synonymous ABHD1 6 83180 7.21327E-5 41590 0 1.64927E-5
2-27353504-C-A p.His370Gln missense ABHD1 1 83174 1.2023E-5 41587 0 8.24498E-6
2-27353507-G-C p.Trp371Cys missense ABHD1 15104 83034 0.181901 41517 1483 0.234139
2-27353507-GTA-CTG p.TrpTyr371CysCys missense ABHD1 120 83176 0.00144272 41588 0 NA
2-27353509-A-G p.Tyr372Cys missense ABHD1 32 83182 3.84699E-4 41591 0 0.0019329
2-27353513-G-A p.Met373Ile missense ABHD1 35 83184 4.20754E-4 41592 1 0.00161469
2-27353518-G-A p.Arg375His missense ABHD1 2 83212 2.4035E-5 41606 0 6.25E-4
2-27353521-T-A p.Leu376His missense ABHD1 2 83228 2.40304E-5 41614 0 NA
2-27353525-G-C p.Leu377Phe missense ABHD1 1 83240 1.20135E-5 41620 0 6.36862E-5
2-27353534-C-T p.Tyr380Tyr synonymous ABHD1 3 83242 3.60395E-5 41621 0 1.07369E-4
2-27353534-C-A p.Tyr380* stop_gained ABHD1 2 83242 2.40263E-5 41621 0 NA
2-27353535-G-A p.Ala381Thr missense ABHD1 12 83240 1.44161E-4 41620 0 1.27356E-4
2-27353539-A-G p.Lys382Arg missense ABHD1 1 83246 1.20126E-5 41623 0 NA
2-27353549-C-G p.Phe385Leu missense ABHD1 1 83262 1.20103E-5 41631 0 NA
2-27353561-G-A p.Glu389Glu synonymous ABHD1 3 83276 3.60248E-5 41638 1 6.25E-4
2-27353573-C-A p.Asp393Glu missense ABHD1 1 83278 1.2008E-5 41639 0 3.97681E-6
2-27353577-A-G p.Arg395Gly missense ABHD1 12 83282 1.44089E-4 41641 0 1.27364E-4
2-27353578-G-A p.Arg395Lys missense ABHD1 5 83282 6.0037E-5 41641 0 3.18451E-5
2-27353585-C-T p.Leu397Leu synonymous ABHD1 1 83276 1.20083E-5 41638 0 3.18451E-5
2-27353606-C-G p.Asn404Lys missense ABHD1 2 83218 2.40333E-5 41609 0 1.19371E-5
2-27353612-A-T p.Ter406Cysext*? stop_lost ABHD1 3 83194 3.60603E-5 41597 0 1.9013E-4