Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-12704574-C-T p.Val3Val synonymous AADACL4 9 83314 1.08025E-4 41657 0 8.29256E-6
1-12704583-A-G p.Leu6Leu synonymous AADACL4 2 83326 2.40021E-5 41663 0 5.03525E-4
1-12704586-G-A p.Val7Val synonymous AADACL4 496 83318 0.0059531 41659 2 0.00627828
1-12704587-C-T p.Leu8Leu synonymous AADACL4 5 83336 5.99981E-5 41668 0 9.55718E-5
1-12704592-C-T p.Leu9Leu synonymous AADACL4 1 83340 1.1999E-5 41670 0 NA
1-12704598-A-G p.Ala11Ala synonymous AADACL4 1 83344 1.19985E-5 41672 0 NA
1-12704623-T-C p.Phe20Leu missense AADACL4 1 83356 1.19967E-5 41678 0 NA
1-12704624-TTGTC-T p.Val21fs frameshift AADACL4 1 83358 1.19964E-5 41679 0 1.64756E-5
1-12704626-G-T p.Val21Phe missense AADACL4 11 83358 1.31961E-4 41679 0 7.55593E-5
1-12704636-T-A p.Val24Asp missense AADACL4 2 83356 2.39935E-5 41678 0 NA
1-12704647-T-A p.Phe28Ile missense AADACL4 1 83356 1.19967E-5 41678 0 NA
1-12704652-C-T p.Leu29Leu synonymous AADACL4 5 83358 5.99822E-5 41679 0 6.37186E-5
1-12704653-A-G p.Thr30Ala missense AADACL4 1 83354 1.1997E-5 41677 0 NA
1-12704657-C-T p.Thr31Met missense AADACL4 6 83360 7.1977E-5 41680 0 2.22413E-4
1-12704660-A-T p.Asp32Val missense AADACL4 3 83358 3.59893E-5 41679 0 8.2375E-6
1-12704669-C-T p.Ala35Val missense AADACL4 6 83344 7.19908E-5 41672 0 3.977E-6
1-12704681-A-G p.His39Arg missense AADACL4 1 83334 1.19999E-5 41667 0 NA
1-12704683-C-T p.Pro40Ser missense AADACL4 1 83334 1.19999E-5 41667 0 NA
1-12704691-G-A p.Lys42Lys synonymous AADACL4 2 83332 2.40004E-5 41666 0 NA
1-12704739-T-C c.168+6T>C splice_region AADACL4 1 83182 1.20218E-5 41591 0 3.98832E-6
1-12711141-G-A c.169-1G>A splice_acceptor AADACL4 1 83204 1.20187E-5 41602 0 NA
1-12711152-T-C p.Phe60Ser missense AADACL4 2 83284 2.40142E-5 41642 0 7.9545E-6
1-12711169-T-C p.Cys66Arg missense AADACL4 1 83358 1.19964E-5 41679 0 3.97671E-6
1-12711175-A-T p.Met68Leu missense AADACL4 12 83378 1.43923E-4 41689 0 6.59098E-5
1-12711182-A-G p.Lys70Arg missense AADACL4 6 83388 7.19528E-5 41694 0 3.97652E-5
1-12711182-A-C p.Lys70Thr missense AADACL4 1 83388 1.19921E-5 41694 0 3.97652E-5
1-12711187-A-G p.Ile72Val missense AADACL4 2 83398 2.39814E-5 41699 0 3.18552E-5
1-12711187-A-T p.Ile72Phe missense AADACL4 1 83398 1.19907E-5 41699 0 3.9764E-6
1-12711188-T-C p.Ile72Thr missense AADACL4 1 83400 1.19904E-5 41700 0 NA
1-12711191-G-A p.Arg73His missense AADACL4 1 83400 1.19904E-5 41700 0 4.37404E-5
1-12711191-G-GT p.Leu75fs frameshift AADACL4 1 83400 1.19904E-5 41700 0 NA
1-12711203-A-G p.Asp77Gly missense AADACL4 1 83410 1.1989E-5 41705 0 NA
1-12711204-T-C p.Asp77Asp synonymous AADACL4 2 83410 2.39779E-5 41705 0 3.18451E-5
1-12711205-A-T p.Ser78Cys missense AADACL4 4 83410 4.79559E-5 41705 0 1.27397E-4
1-12711207-C-T p.Ser78Ser synonymous AADACL4 1 83410 1.1989E-5 41705 0 2.47097E-5
1-12711208-G-A p.Val79Met missense AADACL4 9 83408 1.07903E-4 41704 0 2.54745E-4
1-12711209-T-G p.Val79Gly missense AADACL4 2 83416 2.39762E-5 41708 0 NA
1-12711225-C-A p.Asp84Glu missense AADACL4 9 83418 1.0789E-4 41709 0 4.77156E-5
1-12711227-C-T p.Pro85Leu missense AADACL4 7 83418 8.39147E-5 41709 0 3.30028E-4
1-12711243-C-T p.Thr90Thr synonymous AADACL4 3 83424 3.59609E-5 41712 0 3.29462E-5
1-12711251-G-A p.Arg93His missense AADACL4 12 83428 1.43837E-4 41714 0 1.40021E-4
1-12711251-GT-G p.Phe94fs frameshift AADACL4 2 83428 2.39728E-5 41714 0 3.18512E-5
1-12711260-C-T p.Thr96Met missense AADACL4 11 83420 1.31863E-4 41710 1 1.27421E-4
1-12711261-G-T p.Thr96Thr synonymous AADACL4 1 83416 1.19881E-5 41708 0 3.97655E-6
1-12711267-C-T p.Pro98Pro synonymous AADACL4 157 83408 0.00188231 41704 1 0.00356733
1-12711268-G-A p.Val99Met missense AADACL4 2 83410 2.39779E-5 41705 0 1.64731E-5
1-12711274-C-T p.Leu101Leu synonymous AADACL4 1 83398 1.19907E-5 41699 0 NA
1-12711281-A-C p.Gln103Pro missense AADACL4 2 83390 2.39837E-5 41695 0 6.37024E-5
1-12711284-C-T p.Pro104Leu missense AADACL4 2 83382 2.3986E-5 41691 0 6.37186E-5
1-12711285-G-A p.Pro104Pro synonymous AADACL4 1 83378 1.19936E-5 41689 0 3.97649E-6
1-12711288-G-A p.Lys105Lys synonymous AADACL4 1 83386 1.19924E-5 41693 0 8.23737E-6
1-12711300-C-T p.Ser109Ser synonymous AADACL4 1 83358 1.19964E-5 41679 0 4.94307E-5
1-12711304-C-A p.Pro111Thr missense AADACL4 1 83346 1.19982E-5 41673 0 2.78374E-5
1-12711307-C-T p.Arg112Trp missense AADACL4 3 83338 3.5998E-5 41669 0 2.47198E-5
1-12711308-G-A p.Arg112Gln missense AADACL4 2 83328 2.40015E-5 41664 0 3.18573E-5
1-12711309-G-A p.Arg112Arg synonymous AADACL4 1 83318 1.20022E-5 41659 0 NA
1-12711330-T-C p.His119His synonymous AADACL4 3 83136 3.60855E-5 41568 0 3.30409E-5
1-12711334-GG-CT p.Gly121Leu missense AADACL4 3 83060 3.61185E-5 41530 0 NA
1-12711342-A-C p.Thr123Thr synonymous AADACL4 1 82938 1.20572E-5 41469 0 NA
1-12711343-G-C p.Val124Leu missense AADACL4 7 82938 8.44004E-5 41469 0 0.00171953
1-12721813-G-A p.Gly133Ser missense AADACL4 2 83052 2.40813E-5 41526 0 NA
1-12721821-C-G p.Cys135Trp missense AADACL4 3 83106 3.60985E-5 41553 0 4.11821E-5
1-12721828-C-A p.Leu138Met missense AADACL4 1 83128 1.20296E-5 41564 0 8.23642E-6
1-12721834-C-T p.Arg140Trp missense AADACL4 1 83102 1.20334E-5 41551 0 2.78361E-5
1-12721835-G-A p.Arg140Gln missense AADACL4 4 83098 4.81359E-5 41549 0 1.2738E-4
1-12721837-G-C p.Glu141Gln missense AADACL4 1 83120 1.20308E-5 41560 0 NA
1-12721865-G-A p.Gly150Glu missense+splice_region AADACL4 1 83000 1.20482E-5 41500 0 3.1841E-5
1-12721866-G-T c.449+1G>T splice_donor AADACL4 2 82994 2.40981E-5 41497 0 NA
1-12721870-G-A c.449+5G>A splice_region AADACL4 1 82952 1.20552E-5 41476 0 6.58913E-5
1-12725964-C-T c.450-8C>T splice_region AADACL4 3 83352 3.59919E-5 41676 0 NA
1-12725965-G-A c.450-7G>A splice_region AADACL4 10 83354 1.1997E-4 41677 0 4.56064E-5
1-12725970-A-G c.450-2A>G splice_acceptor AADACL4 3 83368 3.5985E-5 41684 0 4.1155E-6
1-12725971-G-C c.450-1G>C splice_acceptor AADACL4 5 83370 5.99736E-5 41685 0 3.07899E-4
1-12725976-C-T p.Arg152Cys missense AADACL4 22 83376 2.63865E-4 41688 0 5.03525E-4
1-12725976-C-A p.Arg152Ser missense AADACL4 1 83376 1.19939E-5 41688 0 NA
1-12725977-G-A p.Arg152His missense AADACL4 13 83376 1.5592E-4 41688 1 3.79494E-4
1-12726033-A-G p.Ile171Val missense AADACL4 7 83392 8.39409E-5 41696 0 6.37146E-5
1-12726033-A-T p.Ile171Phe missense AADACL4 1 83392 1.19916E-5 41696 0 NA
1-12726036-C-G p.His172Asp missense AADACL4 442 83384 0.00530078 41692 1 0.0171198
1-12726036-C-T p.His172Tyr missense AADACL4 2 83390 2.39837E-5 41695 0 3.97934E-6
1-12726044-G-T p.Leu174Leu synonymous AADACL4 1 83386 1.19924E-5 41693 0 NA
1-12726044-G-A p.Leu174Leu synonymous AADACL4 1 83386 1.19924E-5 41693 0 NA
1-12726049-C-A p.Ala176Asp missense AADACL4 21 83386 2.51841E-4 41693 0 5.03525E-4
1-12726049-C-G p.Ala176Gly missense AADACL4 1 83386 1.19924E-5 41693 0 NA
1-12726068-G-A p.Val182Val synonymous AADACL4 1 83370 1.19947E-5 41685 0 8.23764E-6
1-12726092-T-C p.Cys190Cys synonymous AADACL4 1 83346 1.19982E-5 41673 0 8.23696E-6
1-12726094-G-A p.Gly191Glu missense AADACL4 1 83348 1.19979E-5 41674 0 7.95349E-6
1-12726100-G-A p.Ser193Asn missense AADACL4 4 83330 4.80019E-5 41665 0 NA
1-12726101-C-T p.Ser193Ser synonymous AADACL4 2 83326 2.40021E-5 41663 0 5.56793E-5
1-12726102-G-A p.Val194Ile missense AADACL4 3 83330 3.60014E-5 41665 0 9.55231E-5
1-12726104-C-T p.Val194Val synonymous AADACL4 2 83334 2.39998E-5 41667 0 1.64742E-5
1-12726115-C-T p.Ala198Val missense AADACL4 14 83318 1.68031E-4 41659 0 5.03525E-4
1-12726116-G-A p.Ala198Ala synonymous AADACL4 16 83316 1.9204E-4 41658 0 0.00100705
1-12726121-C-T p.Ala200Val missense AADACL4 3 83312 3.60092E-5 41656 0 3.1841E-5
1-12726122-C-T p.Ala200Ala synonymous AADACL4 24 83312 2.88074E-4 41656 0 5.03525E-4
1-12726123-G-A p.Ala201Thr missense AADACL4 4 83322 4.80065E-5 41661 0 5.03525E-4
1-12726148-G-C p.Arg209Thr missense AADACL4 1 83318 1.20022E-5 41659 0 NA
1-12726154-A-C p.Asp211Ala missense AADACL4 3 83328 3.60023E-5 41664 0 6.25E-4
1-12726162-C-T p.Arg214Trp missense AADACL4 4 83320 4.80077E-5 41660 0 5.03525E-4
1-12726163-G-A p.Arg214Gln missense AADACL4 3 83318 3.60066E-5 41659 0 3.29473E-5
1-12726164-G-C p.Arg214Arg synonymous AADACL4 1 83318 1.20022E-5 41659 0 NA
1-12726169-G-A p.Arg216Gln missense AADACL4 361 83306 0.00433342 41653 2 0.00515066
1-12726174-C-T p.Gln218* stop_gained AADACL4 3 83316 3.60075E-5 41658 0 2.47117E-5
1-12726185-T-C p.Ile221Ile synonymous AADACL4 18 83306 2.16071E-4 41653 0 0.00352467
1-12726198-CA-C p.Gln226fs frameshift AADACL4 1 83290 1.20062E-5 41645 0 NA
1-12726207-T-G p.Cys229Gly missense AADACL4 2 83274 2.40171E-5 41637 0 8.23737E-6
1-12726212-G-A p.Leu230Leu synonymous AADACL4 4 83258 4.80434E-5 41629 0 1.2738E-4
1-12726221-A-G p.Pro233Pro synonymous AADACL4 1 83258 1.20109E-5 41629 0 NA
1-12726231-C-T p.Gln237* stop_gained AADACL4 1 83234 1.20143E-5 41617 0 NA
1-12726236-C-A p.Asn238Lys missense AADACL4 1 83204 1.20187E-5 41602 0 6.36699E-5
1-12726236-C-T p.Asn238Asn synonymous AADACL4 1 83204 1.20187E-5 41602 0 6.36699E-5
1-12726238-A-G p.Gln239Arg missense AADACL4 1 83186 1.20213E-5 41593 0 6.25E-4
1-12726252-C-T p.Leu244Phe missense AADACL4 1 83168 1.20239E-5 41584 0 NA
1-12726257-C-T p.Ser245Ser synonymous AADACL4 1 83128 1.20296E-5 41564 0 NA
1-12726258-C-T p.Arg246Trp missense AADACL4 3 83104 3.60993E-5 41552 0 2.38787E-5
1-12726259-G-A p.Arg246Gln missense AADACL4 3 83112 3.60959E-5 41556 0 4.1216E-5
1-12726261-A-G p.Lys247Glu missense AADACL4 1 83116 1.20314E-5 41558 0 1.27372E-4
1-12726270-G-A p.Val250Met missense AADACL4 1 83054 1.20404E-5 41527 0 8.24443E-6
1-12726274-C-T p.Thr251Ile missense AADACL4 1 83040 1.20424E-5 41520 0 3.98029E-6
1-12726289-A-G p.Tyr256Cys missense AADACL4 1 82978 1.20514E-5 41489 0 3.98121E-6
1-12726289-A-C p.Tyr256Ser missense AADACL4 2 82978 2.41028E-5 41489 0 3.29908E-5
1-12726297-A-G p.Ile259Val missense AADACL4 3 82992 3.61481E-5 41496 0 2.38873E-5
1-12726303-C-T p.Leu261Phe missense AADACL4 3 82980 3.61533E-5 41490 0 NA
1-12726309-T-C p.Trp263Arg missense AADACL4 1 82974 1.2052E-5 41487 0 8.2496E-6
1-12726312-C-T p.Arg264Cys missense AADACL4 4 82954 4.82195E-5 41477 0 4.95025E-5
1-12726313-G-A p.Arg264His missense AADACL4 4 82952 4.82207E-5 41476 0 6.25E-4
1-12726317-C-T p.Asp265Asp synonymous AADACL4 1483 82944 0.0178795 41472 64 0.0378272
1-12726318-G-A p.Ala266Thr missense AADACL4 13 82960 1.56702E-4 41480 0 0.001875
1-12726322-T-C p.Ile267Thr missense AADACL4 1 82978 1.20514E-5 41489 0 8.25137E-6
1-12726329-C-T p.Asn269Asn synonymous AADACL4 21 82980 2.53073E-4 41490 0 0.0020141
1-12726330-G-A p.Gly270Ser missense AADACL4 1 82976 1.20517E-5 41488 0 0.0025
1-12726334-C-G p.Thr271Ser missense AADACL4 1 82966 1.20531E-5 41483 0 NA
1-12726343-C-T p.Pro274Leu missense AADACL4 2 82948 2.41115E-5 41474 0 NA
1-12726350-C-T p.Asp276Asp synonymous AADACL4 1 82930 1.20584E-5 41465 0 3.98286E-6
1-12726350-C-A p.Asp276Glu missense AADACL4 1 82930 1.20584E-5 41465 0 5.03525E-4
1-12726350-C-G p.Asp276Glu missense AADACL4 1 82930 1.20584E-5 41465 0 NA
1-12726351-G-A p.Val277Ile missense AADACL4 4 82922 4.82381E-5 41461 0 4.12793E-5
1-12726356-G-A p.Trp278* stop_gained AADACL4 1 82944 1.20563E-5 41472 0 NA
1-12726366-G-A p.Glu282Lys missense AADACL4 17 82872 2.05136E-4 41436 0 6.25E-4
1-12726380-C-T p.Ser286Ser synonymous AADACL4 3 82802 3.6231E-5 41401 0 7.97264E-6
1-12726382-C-A p.Pro287His missense AADACL4 1 82828 1.20732E-5 41414 0 NA
1-12726385-A-T p.Asp288Val missense AADACL4 3 82816 3.62249E-5 41408 0 NA
1-12726395-C-T p.Pro291Pro synonymous AADACL4 5 82778 6.04025E-5 41389 0 1.27364E-4
1-12726397-A-G p.Lys292Arg missense AADACL4 2 82778 2.4161E-5 41389 0 3.1839E-5
1-12726403-T-G p.Phe294Cys missense AADACL4 4 82772 4.83255E-5 41386 0 NA
1-12726416-C-T p.Gly298Gly synonymous AADACL4 12 82752 1.45012E-4 41376 0 6.37024E-5
1-12726420-C-T p.Gln300* stop_gained AADACL4 1 82796 1.20779E-5 41398 0 NA
1-12726424-C-T p.Pro301Leu missense AADACL4 2 82814 2.41505E-5 41407 0 NA
1-12726432-C-T p.Pro304Ser missense AADACL4 3 82860 3.62056E-5 41430 0 1.19489E-5
1-12726434-C-T p.Pro304Pro synonymous AADACL4 17 82882 2.05111E-4 41441 0 4.5408E-4
1-12726434-C-A p.Pro304Pro synonymous AADACL4 1 82882 1.20653E-5 41441 0 8.256E-6
1-12726435-G-A p.Gly305Ser missense AADACL4 4 82886 4.82591E-5 41443 0 6.6048E-5
1-12726443-T-A p.Phe307Leu missense AADACL4 1 82990 1.20496E-5 41495 0 NA
1-12726475-T-C p.Met318Thr missense AADACL4 3 83146 3.60811E-5 41573 0 8.2447E-6
1-12726482-T-G p.Asp320Glu missense AADACL4 1 83174 1.2023E-5 41587 0 NA
1-12726483-G-A p.Val321Ile missense AADACL4 2 83168 2.40477E-5 41584 0 NA
1-12726485-A-G p.Val321Val synonymous AADACL4 1 83166 1.20241E-5 41583 0 NA
1-12726495-C-T p.Pro325Ser missense AADACL4 10 83156 1.20256E-4 41578 0 9.55779E-5
1-12726496-C-G p.Pro325Arg missense AADACL4 30 83156 3.60768E-4 41578 0 2.22751E-4
1-12726498-CT-C p.Leu326fs frameshift AADACL4 5 83160 6.01251E-5 41580 0 NA
1-12726499-T-C p.Leu326Pro missense AADACL4 2 83154 2.40518E-5 41577 0 NA
1-12726503-A-G p.Ile327Met missense AADACL4 6 83154 7.21553E-5 41577 0 9.5511E-5
1-12726510-G-A p.Asp330Asn missense AADACL4 1 83162 1.20247E-5 41581 0 3.1841E-5
1-12726521-C-T p.Ile333Ile synonymous AADACL4 8 83150 9.62117E-5 41575 0 1.07393E-4
1-12726549-A-G p.Ser343Gly missense AADACL4 3 83168 3.60716E-5 41584 0 3.97725E-6
1-12726557-G-A p.Glu345Glu synonymous AADACL4 4 83178 4.80896E-5 41589 0 6.3674E-5
1-12726571-G-A p.Arg350His missense AADACL4 2 83174 2.4046E-5 41587 0 2.38633E-5
1-12726597-C-T p.Arg359Cys missense AADACL4 3 83212 3.60525E-5 41606 0 5.03525E-4
1-12726598-G-A p.Arg359His missense AADACL4 5 83214 6.0086E-5 41607 0 9.55414E-5
1-12726617-C-T p.Val365Val synonymous AADACL4 3 83216 3.60508E-5 41608 0 3.97747E-6
1-12726618-C-T p.Arg366Cys missense AADACL4 6 83218 7.20998E-5 41609 0 1.89769E-4
1-12726619-G-A p.Arg366His missense AADACL4 12 83218 1.442E-4 41609 0 1.91144E-4
1-12726619-G-C p.Arg366Pro missense AADACL4 1 83218 1.20166E-5 41609 0 3.97772E-6
1-12726620-C-T p.Arg366Arg synonymous AADACL4 2 83218 2.40333E-5 41609 0 4.95066E-5
1-12726621-G-A p.Val367Met missense AADACL4 2 83220 2.40327E-5 41610 0 6.36943E-5
1-12726622-T-A p.Val367Glu missense AADACL4 1 83234 1.20143E-5 41617 0 NA
1-12726628-G-T p.Trp369Leu missense AADACL4 1 83240 1.20135E-5 41620 0 6.25E-4
1-12726636-C-T p.Leu372Leu synonymous AADACL4 991 83220 0.0119082 41610 37 0.0257137
1-12726639-T-C p.Tyr373His missense AADACL4 1 83230 1.20149E-5 41615 0 NA
1-12726654-G-A p.Gly378Arg missense AADACL4 8 83238 9.611E-5 41619 0 0.003125
1-12726666-T-C p.Phe382Leu missense AADACL4 1 83246 1.20126E-5 41623 0 1.1958E-5
1-12726673-A-G p.Asp384Gly missense AADACL4 1 83242 1.20132E-5 41621 0 NA
1-12726681-G-C p.Ala387Pro missense AADACL4 2 83260 2.40211E-5 41630 0 5.03525E-4
1-12726683-T-G p.Ala387Ala synonymous AADACL4 1 83260 1.20106E-5 41630 0 8.30399E-6
1-12726694-C-T p.Pro391Leu missense AADACL4 1 83266 1.20097E-5 41633 0 NA
1-12726695-A-T p.Pro391Pro synonymous AADACL4 1 83270 1.20091E-5 41635 0 4.0016E-6
1-12726695-ATGTTCCC-A p.Cys392fs frameshift AADACL4 1 83270 1.20091E-5 41635 0 4.0016E-6
1-12726710-T-G p.Ile396Met missense AADACL4 2 83256 2.40223E-5 41628 0 NA
1-12726714-A-C p.Asn398His missense AADACL4 1 83248 1.20123E-5 41624 0 NA
1-12726718-C-T p.Ala399Val missense AADACL4 1 83238 1.20137E-5 41619 0 NA
1-12726737-G-A p.Lys405Lys synonymous AADACL4 22 83196 2.64436E-4 41598 2 0.00375
1-12726741-A-T p.Ile407Leu missense AADACL4 1 83186 1.20213E-5 41593 0 1.28241E-4
1-12726742-T-C p.Ile407Thr missense AADACL4 1 83182 1.20218E-5 41591 0 2.59619E-5