Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-52005551-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ABHD14A 14 82676 1.69336E-4 41338 0 6.78979E-5
3-52005578-G-A p.Gln3Gln synonymous ABHD14A 6 82708 7.25444E-5 41354 0 5.03525E-4
3-52005588-G-T p.Glu7* stop_gained ABHD14A 2 82710 2.41809E-5 41355 0 8.43327E-6
3-52005589-A-C p.Glu7Ala missense ABHD14A 1 82708 1.20907E-5 41354 0 NA
3-52005593-G-A p.Ala8Ala synonymous ABHD14A 2 82666 2.41937E-5 41333 0 5.03525E-4
3-52005599-G-A p.Leu10Leu synonymous ABHD14A 1 82622 1.21033E-5 41311 0 1.19927E-5
3-52005603-A-G p.Thr12Ala missense ABHD14A 1 82614 1.21045E-5 41307 0 2.53271E-5
3-52005608-C-T p.Ala13Ala synonymous ABHD14A 13 82548 1.57484E-4 41274 0 1.43979E-4
3-52005609-G-A p.Gly14Arg missense ABHD14A 6 82572 7.26639E-5 41286 0 6.25E-4
3-52005610-G-T p.Gly14Val missense ABHD14A 3 82560 3.63372E-5 41280 0 NA
3-52005618-C-G p.Leu17Val missense ABHD14A 1 82536 1.21159E-5 41268 0 NA
3-52005622-C-T p.Ser18Leu missense ABHD14A 4 82498 4.8486E-5 41249 0 1.72022E-4
3-52005622-C-G p.Ser18Trp missense ABHD14A 1 82498 1.21215E-5 41249 0 1.6002E-5
3-52005624-G-A p.Glu19Lys missense ABHD14A 11 82470 1.33382E-4 41235 0 2.55086E-4
3-52005633-G-A p.Gly22Ser missense ABHD14A 1 82368 1.21406E-5 41184 0 NA
3-52005634-G-A p.Gly22Asp missense ABHD14A 12 82332 1.45751E-4 41166 0 5.42057E-4
3-52005634-GCCTGGCCCTGCA-G p.Ala24_Leu27del disruptive_inframe_deletion ABHD14A 1 82332 1.21459E-5 41166 0 NA
3-52005638-G-A p.Leu23Leu synonymous ABHD14A 446 82314 0.00541828 41157 3 0.0115767
3-52005642-C-G p.Leu25Val missense ABHD14A 1 82272 1.21548E-5 41136 0 NA
3-52005650-G-C p.Leu27Leu synonymous ABHD14A 1 82180 1.21684E-5 41090 0 1.71571E-5
3-52005655-G-A p.Gly29Asp missense ABHD14A 3 82034 3.65702E-5 41017 0 6.02695E-5
3-52005663-G-A p.Ala32Thr missense ABHD14A 1 81750 1.22324E-5 40875 0 8.78549E-6
3-52005665-G-A p.Ala32Ala synonymous ABHD14A 357 81656 0.004372 40828 2 0.00366829
3-52005669-C-T p.Leu34Phe missense ABHD14A 1 81510 1.22684E-5 40755 0 NA
3-52005674-C-T p.His35His synonymous ABHD14A 4 81332 4.91811E-5 40666 0 6.37674E-5
3-52005675-G-A p.Ala36Thr missense ABHD14A 1 81208 1.23141E-5 40604 0 6.25782E-4
3-52005684-C-CATGCCTGCTGCT p.Cys42_Cys43insTyrAlaCysCys disruptive_inframe_insertion ABHD14A 3 81012 3.70316E-5 40506 0 NA
3-52005685-A-G p.His39Arg missense ABHD14A 4 80978 4.93961E-5 40489 0 6.37471E-5
3-52005688-C-A p.Ala40Asp missense ABHD14A 1 80884 1.23634E-5 40442 0 3.18634E-5
3-52005697-G-A p.Cys43Tyr missense ABHD14A 2 80554 2.48281E-5 40277 0 9.31407E-5
3-52005700-G-A p.Cys44Tyr missense ABHD14A 10 80504 1.24217E-4 40252 0 2.65291E-4
3-52005703-C-T p.Ala45Val missense ABHD14A 1 80450 1.24301E-5 40225 0 NA
3-52005707-T-G p.Gly46Gly synonymous ABHD14A 1 80294 1.24542E-5 40147 0 3.19081E-5
3-52005720-G-T p.Val51Phe missense ABHD14A 1 79790 1.25329E-5 39895 0 NA
3-52005732-G-A p.Asp55Asn missense ABHD14A 453 79518 0.00569682 39759 3 0.0118972
3-52005733-A-G p.Asp55Gly missense ABHD14A 3 79468 3.7751E-5 39734 0 4.53893E-6
3-52005738-G-A p.Glu57Lys missense ABHD14A 33 79212 4.16604E-4 39606 0 8.61189E-4
3-52005754-C-T p.Thr62Ile missense ABHD14A 1 78764 1.26962E-5 39382 0 5.50473E-6
3-52005758-G-T p.Leu63Leu synonymous ABHD14A 2 78620 2.54388E-5 39310 0 3.18878E-5
3-52005760-C-T p.Pro64Leu missense ABHD14A 2 78628 2.54362E-5 39314 0 NA
3-52005777-G-A p.Glu70Lys missense ABHD14A 2 78468 2.54881E-5 39234 0 0.00375
3-52005804-G-A p.Val79Ile missense ABHD14A 1 77800 1.28535E-5 38900 0 NA
3-52005825-T-C p.Cys86Arg missense ABHD14A 1 76186 1.31258E-5 38093 0 NA
3-52005829-T-C p.Leu87Pro missense ABHD14A 3 75638 3.96626E-5 37819 0 9.56145E-5
3-52005840-A-G c.264+7A>G splice_region ABHD14A 2 73784 2.71061E-5 36892 0 NA
3-52007747-C-T c.-121C>T 5_prime_UTR_premature_start_codon_gain ABHD14A 1 71468 1.39923E-5 35734 0 NA
3-52007759-G-A c.-109G>A 5_prime_UTR_premature_start_codon_gain ABHD14A 1 73084 1.36829E-5 36542 0 NA
3-52007872-T-C p.Val2Ala missense ABHD14A 1 77812 1.28515E-5 38906 0 NA
3-52007879-T-C p.Thr4Thr synonymous ABHD14A 5 77944 6.41486E-5 38972 0 1.27616E-4
3-52007887-A-C p.Glu7Ala missense ABHD14A 25 78090 3.20143E-4 39045 0 2.8732E-4
3-52007914-G-GA p.Leu17fs frameshift ABHD14A 7 78358 8.93336E-5 39179 0 3.70848E-5
3-52007917-T-C p.Leu17Pro missense ABHD14A 1 78374 1.27593E-5 39187 0 NA
3-52007919-G-A p.Gly18Arg missense+splice_region ABHD14A 2 78388 2.55141E-5 39194 0 1.48348E-5
3-52007926-G-A c.54+5G>A splice_region ABHD14A 1 78368 1.27603E-5 39184 0 1.48284E-5
3-52009161-G-A p.Ala4Thr missense ABHD14A 1 34880 2.86697E-5 17440 0 NA
3-52009170-GGCTGCTGGTTCC-G p.Cys8_Arg11del conservative_inframe_deletion ABHD14A 1 34562 2.89335E-5 17281 0 NA
3-52009172-C-T p.Gly7Gly synonymous ABHD14A 2 34552 5.78838E-5 17276 0 NA
3-52009174-G-A p.Cys8Tyr missense ABHD14A 5 34564 1.44659E-4 17282 0 3.19652E-5
3-52009177-G-A p.Trp9* stop_gained ABHD14A 1 34532 2.89586E-5 17266 0 6.39836E-5
3-52009185-C-T p.Leu12Leu synonymous ABHD14A 1 34388 2.90799E-5 17194 0 NA
3-52009186-T-TGGGCG p.Arg16fs frameshift ABHD14A 5 34282 1.45849E-4 17141 0 0.00233645
3-52009186-T-TGGGCGG p.Gly13_Gly14dup disruptive_inframe_insertion ABHD14A 8 34282 2.33359E-4 17141 0 6.40205E-5
3-52009188-G-GGCGGGGC p.Pro17fs frameshift ABHD14A 1 34298 2.91562E-5 17149 0 NA
3-52009207-T-C p.Ile19Thr missense ABHD14A 1 33702 2.96718E-5 16851 0 3.20102E-5
3-52009213-T-G p.Leu21Trp missense ABHD14A 7 33564 2.08557E-4 16782 0 NA
3-52009219-C-G p.Pro23Arg missense+splice_region ABHD14A 3 33212 9.03288E-5 16606 0 9.59447E-5
3-52009227-C-G c.69+7C>G splice_region ABHD14A 18 32810 5.48613E-4 16405 0 9.2711E-4
3-52011879-C-T c.70-8C>T splice_region ABHD14A 3843 77910 0.0493261 38955 195 0.0891708
3-52011891-T-G p.Val25Gly missense ABHD14A 1 79858 1.25222E-5 39929 0 NA
3-52011893-G-A p.Val26Ile missense ABHD14A 1 79980 1.25031E-5 39990 0 NA
3-52011906-T-G p.Met30Arg missense ABHD14A 183 80874 0.00226278 40437 0 0.005351
3-52011907-G-C p.Met30Ile missense ABHD14A 2 80978 2.46981E-5 40489 0 NA
3-52011909-G-A p.Ser31Asn missense ABHD14A 1 81042 1.23393E-5 40521 0 8.28583E-6
3-52011912-G-A p.Arg32Gln missense ABHD14A 2594 80996 0.0320263 40498 44 0.0274696
3-52011915-C-T p.Ser33Phe missense ABHD14A 2 81500 2.45399E-5 40750 0 3.98048E-6
3-52011916-C-T p.Ser33Ser synonymous ABHD14A 47 81472 5.76885E-4 40736 0 4.22074E-4
3-52011920-G-C p.Val35Leu missense ABHD14A 1 81688 1.22417E-5 40844 0 NA
3-52011925-C-T p.Ala36Ala synonymous ABHD14A 224 81924 0.00273424 40962 4 0.00560688
3-52011930-T-TG p.Leu40fs frameshift ABHD14A 2 82104 2.43593E-5 41052 0 NA
3-52011947-C-T p.Leu44Phe missense ABHD14A 1 82510 1.21197E-5 41255 0 8.26528E-6
3-52011949-C-T p.Leu44Leu synonymous ABHD14A 1 82572 1.21106E-5 41286 0 NA
3-52011957-T-C p.Leu47Pro missense ABHD14A 1 82632 1.21018E-5 41316 0 1.65314E-5
3-52011965-G-GT p.Leu52fs frameshift ABHD14A 1 82694 1.20928E-5 41347 0 NA
3-52011978-G-A p.Gly54Asp missense ABHD14A 2 82676 2.41908E-5 41338 0 1.1944E-5
3-52011981-C-A p.Pro55His missense ABHD14A 4 82698 4.83688E-5 41349 0 2.54858E-4
3-52011983-C-G p.Pro56Ala missense ABHD14A 1 82716 1.20896E-5 41358 0 NA
3-52011983-C-T p.Pro56Ser missense ABHD14A 1 82716 1.20896E-5 41358 0 NA
3-52011999-G-A p.Cys61Tyr missense ABHD14A 2 82760 2.41663E-5 41380 0 3.9801E-6
3-52012000-C-G p.Cys61Trp missense ABHD14A 3026 82674 0.0366016 41337 279 0.0752342
3-52012001-C-T p.Leu62Phe missense ABHD14A 1 82758 1.20834E-5 41379 0 3.97997E-6
3-52012004-TG-T p.Gly64fs frameshift ABHD14A 1 82774 1.20811E-5 41387 0 NA
3-52012007-G-A p.Gly64Arg missense ABHD14A 1 82756 1.20837E-5 41378 0 1.19403E-5
3-52012017-A-G p.Asn67Ser missense ABHD14A 1 82722 1.20887E-5 41361 0 4.14175E-5
3-52012024-A-G p.Thr69Thr synonymous ABHD14A 8 82752 9.66744E-5 41376 0 9.55901E-5
3-52012030-G-C p.Leu71Leu synonymous ABHD14A 1 82730 1.20875E-5 41365 0 NA
3-52012036-T-C p.Gly73Gly synonymous ABHD14A 1 82682 1.20945E-5 41341 0 3.18695E-5
3-52012040-A-T p.Thr75Ser missense ABHD14A 2 82672 2.4192E-5 41336 0 8.31836E-6
3-52012048-C-A p.Gly77Gly synonymous ABHD14A 1 82662 1.20975E-5 41331 0 NA
3-52012053-C-T p.Ser79Leu missense ABHD14A 6 82662 7.25847E-5 41331 0 4.38366E-5
3-52012054-G-A p.Ser79Ser synonymous ABHD14A 6 82634 7.26093E-5 41317 0 9.16671E-5
3-52012068-G-T p.Arg84Leu missense ABHD14A 1 82588 1.21083E-5 41294 0 NA
3-52012069-C-T p.Arg84Arg synonymous ABHD14A 3 82578 3.63293E-5 41289 0 3.18512E-5
3-52012070-G-A p.Glu85Lys missense ABHD14A 2 82610 2.42101E-5 41305 0 2.22958E-4
3-52012087-C-G p.Asn90Lys missense ABHD14A 1 82582 1.21092E-5 41291 0 3.1841E-5
3-52012105-G-A c.281+7G>A splice_region ABHD14A 8 82402 9.7085E-5 41201 0 6.24714E-5
3-52012271-G-A c.282-4G>A splice_region ABHD14A 2 82284 2.43061E-5 41142 0 6.3168E-6
3-52012281-G-A p.Glu96Glu synonymous ABHD14A 1 82312 1.21489E-5 41156 0 NA
3-52012283-T-C p.Val97Ala missense ABHD14A 5 82294 6.07578E-5 41147 0 7.56001E-5
3-52012291-C-T p.Leu100Phe missense ABHD14A 1 82298 1.2151E-5 41149 0 3.18471E-5
3-52012297-G-T p.Gly102* stop_gained ABHD14A 1 82310 1.21492E-5 41155 0 NA
3-52012298-G-T p.Gly102Val missense ABHD14A 1 82318 1.2148E-5 41159 0 3.18613E-5
3-52012313-C-A p.Ser107Tyr missense ABHD14A 2 82242 2.43185E-5 41121 0 6.28607E-6
3-52012314-T-C p.Ser107Ser synonymous ABHD14A 4 82236 4.86405E-5 41118 0 1.63413E-4
3-52012319-C-T p.Thr109Met missense ABHD14A 1 82192 1.21666E-5 41096 0 4.46987E-5
3-52012320-G-A p.Thr109Thr synonymous ABHD14A 1715 82140 0.020879 41070 20 0.0186353
3-52012325-A-T p.Glu111Val missense ABHD14A 1 82126 1.21764E-5 41063 0 NA
3-52012326-G-T p.Glu111Asp missense ABHD14A 11 82134 1.33927E-4 41067 0 2.23015E-4
3-52012334-G-A p.Gly114Asp missense ABHD14A 1 81998 1.21954E-5 40999 0 3.18634E-5
3-52012354-C-T p.Gln121* stop_gained ABHD14A 4 81810 4.88938E-5 40905 0 NA
3-52012357-A-G p.Arg122Gly missense ABHD14A 1 81752 1.22321E-5 40876 0 6.30756E-6
3-52012360-G-A p.Gly123Ser missense ABHD14A 1 81692 1.22411E-5 40846 0 NA
3-52012366-C-T p.Arg125Trp missense ABHD14A 2 81528 2.45314E-5 40764 0 4.6516E-5
3-52012371-C-T p.Ala126Ala synonymous ABHD14A 1 81440 1.2279E-5 40720 0 4.67421E-5
3-52012372-G-A p.Val127Met missense ABHD14A 8 81428 9.82463E-5 40714 0 9.36944E-5
3-52012391-G-A c.397+1G>A splice_donor ABHD14A 1 80974 1.23496E-5 40487 0 NA
3-52012392-T-TTTTGGGAACTCGGCACCTTCAAAGGAGGCAAGCACA c.397+2_397+3insTTTGGGAACTCGGCACCTTCAAAGGAGGCAAGCACA splice_region ABHD14A 1 80910 1.23594E-5 40455 0 NA
3-52012392-T-TTTTGGGAACTCGGCACCTTCAAAGGAGGCAAGCACAGAGGCAGGGCG c.397+2_397+3insTTTGGGAACTCGGCACCTTCAAAGGAGGCAAGCACAGAGGCAGGGCG splice_region ABHD14A 1 80908 1.23597E-5 40454 0 NA
3-52012393-G-T c.397+3G>T splice_region ABHD14A 1 80888 1.23628E-5 40444 0 NA
3-52012398-C-A c.397+8C>A splice_region ABHD14A 1 80662 1.23974E-5 40331 0 NA
3-52014402-T-C c.398-7T>C splice_region ABHD14A 1 81530 1.22654E-5 40765 0 NA
3-52014423-G-A p.Ala138Thr missense ABHD14A 1 81708 1.22387E-5 40854 0 NA
3-52014446-A-G p.Thr145Thr synonymous ABHD14A 1 82260 1.21566E-5 41130 0 NA
3-52014453-G-A p.Gly148Arg missense ABHD14A 7 82226 8.51312E-5 41113 0 4.05433E-6
3-52014453-G-C p.Gly148Arg missense ABHD14A 1 82226 1.21616E-5 41113 0 4.05433E-6
3-52014454-G-A p.Gly148Glu missense ABHD14A 1 82182 1.21681E-5 41091 0 4.05726E-6
3-52014456-C-T p.Arg149Trp missense ABHD14A 3 81960 3.66032E-5 40980 0 4.22105E-5
3-52014463-C-T p.Ala151Val missense ABHD14A 1 80290 1.24549E-5 40145 0 6.25E-4
3-52014464-G-A p.Ala151Ala synonymous ABHD14A 6 80478 7.45545E-5 40239 0 5.03956E-5
3-52014474-C-T p.Arg155Trp missense ABHD14A 5 81252 6.15369E-5 40626 0 2.01211E-4
3-52014475-G-A p.Arg155Gln missense ABHD14A 2 81476 2.45471E-5 40738 0 0.00100705
3-52014478-C-T p.Ala156Val missense ABHD14A 4 81472 4.90966E-5 40736 0 5.03525E-4
3-52014479-G-A p.Ala156Ala synonymous ABHD14A 8 81610 9.80272E-5 40805 0 6.25E-4
3-52014483-C-T p.Arg158Trp missense ABHD14A 3 81972 3.65979E-5 40986 0 1.91327E-4
3-52014484-G-A p.Arg158Gln missense ABHD14A 1 82148 1.21732E-5 41074 0 8.32778E-6
3-52014486-G-A p.Asp159Asn missense ABHD14A 1400 82178 0.0170362 41089 18 0.022836
3-52014500-G-A p.Gln163Gln synonymous ABHD14A 1 82642 1.21004E-5 41321 0 3.18512E-5
3-52014505-C-T p.Ala165Val missense ABHD14A 27 82696 3.26497E-4 41348 1 0.0013004
3-52014507-G-A p.Val166Met missense ABHD14A 1 82704 1.20913E-5 41352 0 1.65615E-5
3-52014513-G-A p.Val168Met missense ABHD14A 2 82740 2.41721E-5 41370 0 6.37146E-5
3-52014520-C-A p.Pro170His missense ABHD14A 2 82726 2.41762E-5 41363 0 7.96096E-6
3-52014523-C-T p.Ser171Leu missense ABHD14A 1 82702 1.20916E-5 41351 0 1.65399E-5
3-52014524-G-A p.Ser171Ser synonymous ABHD14A 1 82660 1.20978E-5 41330 0 4.96212E-5
3-52014538-A-G p.Tyr176Cys missense ABHD14A 4 82660 4.8391E-5 41330 0 5.78685E-5
3-52014541-C-A p.Ala177Asp missense ABHD14A 1 82586 1.21086E-5 41293 0 NA
3-52014558-C-G p.Arg183Gly missense ABHD14A 1 82182 1.21681E-5 41091 0 NA
3-52014559-G-A p.Arg183Gln missense ABHD14A 1 82136 1.21749E-5 41068 0 1.99127E-5
3-52014566-C-G p.His185Gln missense ABHD14A 24 81816 2.93341E-4 40908 0 6.57266E-4
3-52014567-C-T p.His186Tyr missense ABHD14A 1 81806 1.2224E-5 40903 0 1.24141E-4
3-52014576-C-T p.His189Tyr missense ABHD14A 1 81322 1.22968E-5 40661 0 1.6562E-5
3-52014577-A-G p.His189Arg missense ABHD14A 18 81252 2.21533E-4 40626 0 0.00100705
3-52014593-C-T p.Ile194Ile synonymous ABHD14A 11 79298 1.38717E-4 39649 0 7.19821E-5
3-52014594-G-C p.Ala195Pro missense ABHD14A 2 78776 2.53884E-5 39388 0 1.27527E-4
3-52014600-ACCT-A p.Ser198del conservative_inframe_deletion ABHD14A 1 77784 1.28561E-5 38892 0 4.00972E-6
3-52014607-C-A p.Thr199Asn missense ABHD14A 1 76658 1.3045E-5 38329 0 4.0102E-6
3-52014629-A-G p.Gln206Gln synonymous ABHD14A 1 71702 1.39466E-5 35851 0 8.06322E-6
3-52014640-T-C p.Val210Ala missense ABHD14A 1 69252 1.444E-5 34626 0 8.91136E-5
3-52014643-A-G p.Lys211Arg missense+splice_region ABHD14A 2 68760 2.90867E-5 34380 0 8.4421E-6
3-52014644-G-GACTCCAACCCTTATCCT c.633_633+1insACTCCAACCCTTATCCT splice_donor ABHD14A 2 68512 2.9192E-5 34256 0 NA
3-52014645-G-T c.633+1G>T splice_donor ABHD14A 1 68124 1.46791E-5 34062 0 8.44352E-6
3-52014871-A-C p.Tyr218Ser missense ABHD14A 1 79440 1.25881E-5 39720 0 6.64044E-5
3-52014872-T-C p.Met101Thr missense ABHD14A 1 79610 1.25612E-5 39805 0 NA
3-52014892-T-C p.Leu225Pro missense ABHD14A 2 81308 2.45978E-5 40654 0 3.18471E-5
3-52014897-C-G p.Arg227Gly missense ABHD14A 232 81586 0.00284363 40793 1 0.00225071
3-52014897-C-T p.Arg227* stop_gained ABHD14A 1 81592 1.22561E-5 40796 0 3.18573E-5
3-52014898-G-A p.Arg227Gln missense ABHD14A 8 81658 9.79696E-5 40829 0 1.65281E-4
3-52014907-T-G p.Leu230Arg missense ABHD14A 270 82068 0.00328995 41034 0 0.00227372
3-52014909-C-T p.Arg231Trp missense ABHD14A 2 82104 2.43593E-5 41052 0 8.25955E-6
3-52014910-G-A p.Arg231Gln missense ABHD14A 30 82146 3.65203E-4 41073 1 0.00145342
3-52014911-G-T p.Gly114Val missense ABHD14A 1 82188 1.21672E-5 41094 0 NA
3-52014913-A-G p.Gln232Arg missense ABHD14A 1 82310 1.21492E-5 41155 0 NA
3-52014918-C-T p.Arg234Cys missense ABHD14A 4 82426 4.85284E-5 41213 0 4.12677E-5
3-52014931-A-G p.Asn238Ser missense ABHD14A 1 82746 1.20852E-5 41373 0 1.64976E-5
3-52014948-C-G p.Leu244Val missense ABHD14A 1 82914 1.20607E-5 41457 0 3.18532E-5
3-52014951-C-T p.Arg245Cys missense ABHD14A 2 82944 2.41127E-5 41472 0 8.24688E-6
3-52014952-G-T p.Arg245Leu missense ABHD14A 4 82930 4.82335E-5 41465 0 7.95583E-6
3-52014955-A-G p.Asn246Ser missense ABHD14A 1 82992 1.20494E-5 41496 0 1.19336E-5
3-52014963-C-T p.His249Tyr missense ABHD14A 5 83014 6.02308E-5 41507 0 1.98893E-5
3-52014963-C-G p.His249Asp missense ABHD14A 1 83014 1.20462E-5 41507 0 8.2462E-6
3-52014983-G-T p.Lys255Asn missense ABHD14A 1 83258 1.20109E-5 41629 0 NA
3-52014985-C-T p.Pro256Leu missense ABHD14A 2 83272 2.40177E-5 41636 0 1.64845E-5
3-52014986-G-A p.Pro256Pro synonymous ABHD14A 9 83266 1.08087E-4 41633 0 9.55962E-5
3-52014992-C-T p.Asp258Asp synonymous ABHD14A 2 83274 2.40171E-5 41637 0 NA
3-52015016-C-A p.Phe266Leu missense ABHD14A 1 83264 1.201E-5 41632 0 NA
3-52015019-T-G p.Leu267Leu synonymous ABHD14A 2 83248 2.40246E-5 41624 0 2.47999E-5
3-52015027-T-G p.Leu270Arg missense ABHD14A 2 83208 2.40361E-5 41604 0 NA