Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-12704574-C-T p.Val3Val synonymous AADACL4 9 81026 1.11075E-4 40513 0 8.29256E-6
1-12704583-A-G p.Leu6Leu synonymous AADACL4 2 81034 2.4681E-5 40517 0 5.03525E-4
1-12704586-G-A p.Val7Val synonymous AADACL4 488 81026 0.00602276 40513 2 0.00627828
1-12704587-C-T p.Leu8Leu synonymous AADACL4 5 81042 6.16964E-5 40521 0 9.55718E-5
1-12704592-C-T p.Leu9Leu synonymous AADACL4 1 81048 1.23384E-5 40524 0 NA
1-12704598-A-G p.Ala11Ala synonymous AADACL4 1 81052 1.23378E-5 40526 0 NA
1-12704623-T-C p.Phe20Leu missense AADACL4 1 81064 1.23359E-5 40532 0 NA
1-12704624-TTGTC-T p.Val21fs frameshift AADACL4 1 81066 1.23356E-5 40533 0 1.64756E-5
1-12704626-G-T p.Val21Phe missense AADACL4 11 81066 1.35692E-4 40533 0 7.55593E-5
1-12704647-T-A p.Phe28Ile missense AADACL4 1 81066 1.23356E-5 40533 0 NA
1-12704652-C-T p.Leu29Leu synonymous AADACL4 5 81064 6.16797E-5 40532 0 6.37186E-5
1-12704657-C-T p.Thr31Met missense AADACL4 6 81064 7.40156E-5 40532 0 2.22413E-4
1-12704660-A-T p.Asp32Val missense AADACL4 3 81062 3.70087E-5 40531 0 8.2375E-6
1-12704669-C-T p.Ala35Val missense AADACL4 6 81052 7.40266E-5 40526 0 3.977E-6
1-12704681-A-G p.His39Arg missense AADACL4 1 81040 1.23396E-5 40520 0 NA
1-12704683-C-T p.Pro40Ser missense AADACL4 1 81040 1.23396E-5 40520 0 NA
1-12704691-G-A p.Lys42Lys synonymous AADACL4 2 81038 2.46798E-5 40519 0 NA
1-12704739-T-C c.168+6T>C splice_region AADACL4 1 80906 1.236E-5 40453 0 3.98832E-6
1-12711141-G-A c.169-1G>A splice_acceptor AADACL4 1 80912 1.23591E-5 40456 0 NA
1-12711152-T-C p.Phe60Ser missense AADACL4 2 80984 2.46962E-5 40492 0 7.9545E-6
1-12711169-T-C p.Cys66Arg missense AADACL4 1 81054 1.23375E-5 40527 0 3.97671E-6
1-12711175-A-T p.Met68Leu missense AADACL4 12 81070 1.4802E-4 40535 0 6.59098E-5
1-12711182-A-G p.Lys70Arg missense AADACL4 3 81082 3.69996E-5 40541 0 3.97652E-5
1-12711182-A-C p.Lys70Thr missense AADACL4 1 81082 1.23332E-5 40541 0 3.97652E-5
1-12711187-A-G p.Ile72Val missense AADACL4 2 81092 2.46633E-5 40546 0 3.18552E-5
1-12711187-A-T p.Ile72Phe missense AADACL4 1 81092 1.23317E-5 40546 0 3.9764E-6
1-12711188-T-C p.Ile72Thr missense AADACL4 1 81092 1.23317E-5 40546 0 NA
1-12711191-G-A p.Arg73His missense AADACL4 1 81092 1.23317E-5 40546 0 4.37404E-5
1-12711191-G-GT p.Leu75fs frameshift AADACL4 1 81092 1.23317E-5 40546 0 NA
1-12711203-A-G p.Asp77Gly missense AADACL4 1 81102 1.23302E-5 40551 0 NA
1-12711204-T-C p.Asp77Asp synonymous AADACL4 2 81102 2.46603E-5 40551 0 3.18451E-5
1-12711205-A-T p.Ser78Cys missense AADACL4 4 81102 4.93206E-5 40551 0 1.27397E-4
1-12711207-C-T p.Ser78Ser synonymous AADACL4 1 81102 1.23302E-5 40551 0 2.47097E-5
1-12711208-G-A p.Val79Met missense AADACL4 6 81100 7.39827E-5 40550 0 2.54745E-4
1-12711209-T-G p.Val79Gly missense AADACL4 2 81106 2.46591E-5 40553 0 NA
1-12711225-C-A p.Asp84Glu missense AADACL4 9 81108 1.10963E-4 40554 0 4.77156E-5
1-12711227-C-T p.Pro85Leu missense AADACL4 7 81108 8.63047E-5 40554 0 3.30028E-4
1-12711243-C-T p.Thr90Thr synonymous AADACL4 3 81112 3.69859E-5 40556 0 3.29462E-5
1-12711251-G-A p.Arg93His missense AADACL4 11 81112 1.35615E-4 40556 0 1.40021E-4
1-12711251-GT-G p.Phe94fs frameshift AADACL4 2 81112 2.46573E-5 40556 0 3.18512E-5
1-12711260-C-T p.Thr96Met missense AADACL4 11 81106 1.35625E-4 40553 1 1.27421E-4
1-12711261-G-T p.Thr96Thr synonymous AADACL4 1 81102 1.23302E-5 40551 0 3.97655E-6
1-12711261-G-A p.Thr96Thr synonymous AADACL4 1 81102 1.23302E-5 40551 0 3.97655E-6
1-12711267-C-T p.Pro98Pro synonymous AADACL4 157 81096 0.00193598 40548 1 0.00356733
1-12711268-G-A p.Val99Met missense AADACL4 2 81100 2.46609E-5 40550 0 1.64731E-5
1-12711274-C-T p.Leu101Leu synonymous AADACL4 1 81088 1.23323E-5 40544 0 NA
1-12711281-A-C p.Gln103Pro missense AADACL4 2 81082 2.46664E-5 40541 0 6.37024E-5
1-12711284-C-T p.Pro104Leu missense AADACL4 2 81072 2.46694E-5 40536 0 6.37186E-5
1-12711285-G-A p.Pro104Pro synonymous AADACL4 1 81068 1.23353E-5 40534 0 3.97649E-6
1-12711288-G-A p.Lys105Lys synonymous AADACL4 1 81074 1.23344E-5 40537 0 8.23737E-6
1-12711300-C-T p.Ser109Ser synonymous AADACL4 1 81052 1.23378E-5 40526 0 4.94307E-5
1-12711307-C-T p.Arg112Trp missense AADACL4 3 81034 3.70215E-5 40517 0 2.47198E-5
1-12711308-G-A p.Arg112Gln missense AADACL4 2 81024 2.4684E-5 40512 0 3.18573E-5
1-12711309-G-A p.Arg112Arg synonymous AADACL4 1 81014 1.23435E-5 40507 0 NA
1-12711330-T-C p.His119His synonymous AADACL4 3 80834 3.71131E-5 40417 0 3.30409E-5
1-12711334-GG-CT p.Gly121Leu missense AADACL4 3 80762 3.71462E-5 40381 0 NA
1-12711342-A-C p.Thr123Thr synonymous AADACL4 1 80638 1.24011E-5 40319 0 NA
1-12711343-G-C p.Val124Leu missense AADACL4 4 80638 4.96044E-5 40319 0 0.00171953
1-12721813-G-A p.Gly133Ser missense AADACL4 2 80802 2.47519E-5 40401 0 NA
1-12721821-C-G p.Cys135Trp missense AADACL4 3 80848 3.71067E-5 40424 0 4.11821E-5
1-12721828-C-A p.Leu138Met missense AADACL4 1 80862 1.23667E-5 40431 0 8.23642E-6
1-12721834-C-T p.Arg140Trp missense AADACL4 1 80850 1.23686E-5 40425 0 2.78361E-5
1-12721835-G-A p.Arg140Gln missense AADACL4 4 80838 4.94817E-5 40419 0 1.2738E-4
1-12721837-G-C p.Glu141Gln missense AADACL4 1 80858 1.23674E-5 40429 0 NA
1-12721853-T-C p.Leu146Pro missense AADACL4 1 80844 1.23695E-5 40422 0 NA
1-12721865-G-A p.Gly150Glu missense+splice_region AADACL4 1 80786 1.23784E-5 40393 0 3.1841E-5
1-12721866-G-T c.449+1G>T splice_donor AADACL4 2 80780 2.47586E-5 40390 0 NA
1-12721870-G-A c.449+5G>A splice_region AADACL4 1 80750 1.23839E-5 40375 0 6.58913E-5
1-12725964-C-T c.450-8C>T splice_region AADACL4 3 81054 3.70124E-5 40527 0 NA
1-12725965-G-A c.450-7G>A splice_region AADACL4 10 81056 1.23372E-4 40528 0 4.56064E-5
1-12725970-A-G c.450-2A>G splice_acceptor AADACL4 3 81064 3.70078E-5 40532 0 4.1155E-6
1-12725971-G-C c.450-1G>C splice_acceptor AADACL4 4 81066 4.93425E-5 40533 0 3.07899E-4
1-12725976-C-T p.Arg152Cys missense AADACL4 19 81072 2.3436E-4 40536 0 5.03525E-4
1-12725976-C-A p.Arg152Ser missense AADACL4 1 81072 1.23347E-5 40536 0 NA
1-12725977-G-A p.Arg152His missense AADACL4 11 81072 1.35682E-4 40536 1 3.79494E-4
1-12726033-A-G p.Ile171Val missense AADACL4 7 81092 8.63217E-5 40546 0 6.37146E-5
1-12726033-A-T p.Ile171Phe missense AADACL4 1 81092 1.23317E-5 40546 0 NA
1-12726036-C-G p.His172Asp missense AADACL4 414 81084 0.00510582 40542 0 0.0171198
1-12726036-C-T p.His172Tyr missense AADACL4 2 81090 2.4664E-5 40545 0 3.97934E-6
1-12726044-G-T p.Leu174Leu synonymous AADACL4 1 81090 1.2332E-5 40545 0 NA
1-12726044-G-A p.Leu174Leu synonymous AADACL4 1 81090 1.2332E-5 40545 0 NA
1-12726049-C-A p.Ala176Asp missense AADACL4 21 81088 2.58978E-4 40544 0 5.03525E-4
1-12726049-C-G p.Ala176Gly missense AADACL4 1 81088 1.23323E-5 40544 0 NA
1-12726068-G-A p.Val182Val synonymous AADACL4 1 81078 1.23338E-5 40539 0 8.23764E-6
1-12726092-T-C p.Cys190Cys synonymous AADACL4 1 81050 1.23381E-5 40525 0 8.23696E-6
1-12726094-G-A p.Gly191Glu missense AADACL4 1 81052 1.23378E-5 40526 0 7.95349E-6
1-12726100-G-A p.Ser193Asn missense AADACL4 3 81034 3.70215E-5 40517 0 NA
1-12726101-C-T p.Ser193Ser synonymous AADACL4 2 81030 2.46822E-5 40515 0 5.56793E-5
1-12726102-G-A p.Val194Ile missense AADACL4 3 81032 3.70224E-5 40516 0 9.55231E-5
1-12726104-C-T p.Val194Val synonymous AADACL4 2 81036 2.46804E-5 40518 0 1.64742E-5
1-12726115-C-T p.Ala198Val missense AADACL4 14 81020 1.72797E-4 40510 0 5.03525E-4
1-12726116-G-A p.Ala198Ala synonymous AADACL4 16 81018 1.97487E-4 40509 0 0.00100705
1-12726121-C-T p.Ala200Val missense AADACL4 3 81016 3.70297E-5 40508 0 3.1841E-5
1-12726122-C-T p.Ala200Ala synonymous AADACL4 24 81016 2.96238E-4 40508 0 5.03525E-4
1-12726123-G-A p.Ala201Thr missense AADACL4 3 81026 3.70252E-5 40513 0 5.03525E-4
1-12726148-G-C p.Arg209Thr missense AADACL4 1 81022 1.23423E-5 40511 0 NA
1-12726154-A-C p.Asp211Ala missense AADACL4 3 81030 3.70233E-5 40515 0 6.25E-4
1-12726162-C-T p.Arg214Trp missense AADACL4 3 81022 3.7027E-5 40511 0 5.03525E-4
1-12726163-G-A p.Arg214Gln missense AADACL4 3 81020 3.70279E-5 40510 0 3.29473E-5
1-12726169-G-A p.Arg216Gln missense AADACL4 352 81006 0.00434536 40503 2 0.00515066
1-12726174-C-T p.Gln218* stop_gained AADACL4 2 81014 2.46871E-5 40507 0 2.47117E-5
1-12726185-T-C p.Ile221Ile synonymous AADACL4 14 81004 1.72831E-4 40502 0 0.00352467
1-12726198-CA-C p.Gln226fs frameshift AADACL4 1 80988 1.23475E-5 40494 0 NA
1-12726207-T-G p.Cys229Gly missense AADACL4 2 80976 2.46987E-5 40488 0 8.23737E-6
1-12726212-G-A p.Leu230Leu synonymous AADACL4 3 80960 3.70553E-5 40480 0 1.2738E-4
1-12726221-A-G p.Pro233Pro synonymous AADACL4 1 80960 1.23518E-5 40480 0 NA
1-12726231-C-T p.Gln237* stop_gained AADACL4 1 80936 1.23554E-5 40468 0 NA
1-12726236-C-A p.Asn238Lys missense AADACL4 1 80908 1.23597E-5 40454 0 6.36699E-5
1-12726236-C-T p.Asn238Asn synonymous AADACL4 1 80908 1.23597E-5 40454 0 6.36699E-5
1-12726238-A-G p.Gln239Arg missense AADACL4 1 80890 1.23625E-5 40445 0 6.25E-4
1-12726252-C-T p.Leu244Phe missense AADACL4 1 80862 1.23667E-5 40431 0 NA
1-12726257-C-T p.Ser245Ser synonymous AADACL4 1 80826 1.23723E-5 40413 0 NA
1-12726258-C-T p.Arg246Trp missense AADACL4 3 80802 3.71278E-5 40401 0 2.38787E-5
1-12726259-G-A p.Arg246Gln missense AADACL4 3 80808 3.7125E-5 40404 0 4.1216E-5
1-12726261-A-G p.Lys247Glu missense AADACL4 1 80812 1.23744E-5 40406 0 1.27372E-4
1-12726270-G-A p.Val250Met missense AADACL4 1 80750 1.23839E-5 40375 0 8.24443E-6
1-12726274-C-T p.Thr251Ile missense AADACL4 1 80736 1.2386E-5 40368 0 3.98029E-6
1-12726289-A-G p.Tyr256Cys missense AADACL4 1 80674 1.23956E-5 40337 0 3.98121E-6
1-12726289-A-C p.Tyr256Ser missense AADACL4 2 80674 2.47911E-5 40337 0 3.29908E-5
1-12726297-A-G p.Ile259Val missense AADACL4 3 80690 3.71793E-5 40345 0 2.38873E-5
1-12726303-C-T p.Leu261Phe missense AADACL4 3 80672 3.71876E-5 40336 0 NA
1-12726309-T-C p.Trp263Arg missense AADACL4 1 80668 1.23965E-5 40334 0 8.2496E-6
1-12726312-C-T p.Arg264Cys missense AADACL4 4 80652 4.95958E-5 40326 0 4.95025E-5
1-12726313-G-A p.Arg264His missense AADACL4 4 80650 4.9597E-5 40325 0 6.25E-4
1-12726317-C-T p.Asp265Asp synonymous AADACL4 1461 80638 0.018118 40319 64 0.0378272
1-12726318-G-A p.Ala266Thr missense AADACL4 10 80654 1.23986E-4 40327 0 0.001875
1-12726322-T-C p.Ile267Thr missense AADACL4 1 80674 1.23956E-5 40337 0 8.25137E-6
1-12726329-C-T p.Asn269Asn synonymous AADACL4 18 80676 2.23115E-4 40338 0 0.0020141
1-12726330-G-A p.Gly270Ser missense AADACL4 1 80672 1.23959E-5 40336 0 0.0025
1-12726334-C-G p.Thr271Ser missense AADACL4 1 80660 1.23977E-5 40330 0 NA
1-12726343-C-T p.Pro274Leu missense AADACL4 2 80644 2.48004E-5 40322 0 NA
1-12726350-C-T p.Asp276Asp synonymous AADACL4 1 80628 1.24026E-5 40314 0 3.98286E-6
1-12726350-C-G p.Asp276Glu missense AADACL4 1 80628 1.24026E-5 40314 0 NA
1-12726351-G-A p.Val277Ile missense AADACL4 4 80620 4.96155E-5 40310 0 4.12793E-5
1-12726356-G-A p.Trp278* stop_gained AADACL4 1 80642 1.24005E-5 40321 0 NA
1-12726366-G-A p.Glu282Lys missense AADACL4 18 80572 2.23403E-4 40286 0 6.25E-4
1-12726380-C-T p.Ser286Ser synonymous AADACL4 3 80504 3.72652E-5 40252 0 7.97264E-6
1-12726382-C-A p.Pro287His missense AADACL4 1 80528 1.2418E-5 40264 0 NA
1-12726385-A-T p.Asp288Val missense AADACL4 3 80518 3.72587E-5 40259 0 NA
1-12726395-C-T p.Pro291Pro synonymous AADACL4 5 80484 6.21241E-5 40242 0 1.27364E-4
1-12726397-A-G p.Lys292Arg missense AADACL4 2 80482 2.48503E-5 40241 0 3.1839E-5
1-12726403-T-G p.Phe294Cys missense AADACL4 4 80476 4.97043E-5 40238 0 NA
1-12726416-C-T p.Gly298Gly synonymous AADACL4 13 80460 1.61571E-4 40230 0 6.37024E-5
1-12726420-C-T p.Gln300* stop_gained AADACL4 1 80510 1.24208E-5 40255 0 NA
1-12726432-C-T p.Pro304Ser missense AADACL4 3 80572 3.72338E-5 40286 0 1.19489E-5
1-12726434-C-T p.Pro304Pro synonymous AADACL4 17 80590 2.10944E-4 40295 0 4.5408E-4
1-12726434-C-A p.Pro304Pro synonymous AADACL4 1 80590 1.24085E-5 40295 0 8.256E-6
1-12726435-G-A p.Gly305Ser missense AADACL4 4 80596 4.96303E-5 40298 0 6.6048E-5
1-12726443-T-A p.Phe307Leu missense AADACL4 1 80710 1.239E-5 40355 0 NA
1-12726475-T-C p.Met318Thr missense AADACL4 1 80872 1.23652E-5 40436 0 8.2447E-6
1-12726482-T-G p.Asp320Glu missense AADACL4 1 80904 1.23603E-5 40452 0 NA
1-12726483-G-A p.Val321Ile missense AADACL4 3 80898 3.70837E-5 40449 0 NA
1-12726485-A-G p.Val321Val synonymous AADACL4 1 80896 1.23616E-5 40448 0 NA
1-12726495-C-T p.Pro325Ser missense AADACL4 9 80898 1.11251E-4 40449 0 9.55779E-5
1-12726496-C-G p.Pro325Arg missense AADACL4 31 80896 3.83208E-4 40448 0 2.22751E-4
1-12726498-CT-C p.Leu326fs frameshift AADACL4 5 80900 6.18047E-5 40450 0 NA
1-12726499-T-C p.Leu326Pro missense AADACL4 2 80898 2.47225E-5 40449 0 NA
1-12726503-A-G p.Ile327Met missense AADACL4 5 80900 6.18047E-5 40450 0 9.5511E-5
1-12726510-G-A p.Asp330Asn missense AADACL4 1 80912 1.23591E-5 40456 0 3.1841E-5
1-12726521-C-T p.Ile333Ile synonymous AADACL4 8 80904 9.88826E-5 40452 0 1.07393E-4
1-12726549-A-G p.Ser343Gly missense AADACL4 3 80912 3.70773E-5 40456 0 3.97725E-6
1-12726557-G-A p.Glu345Glu synonymous AADACL4 4 80916 4.9434E-5 40458 0 6.3674E-5
1-12726571-G-A p.Arg350His missense AADACL4 2 80912 2.47182E-5 40456 0 2.38633E-5
1-12726597-C-T p.Arg359Cys missense AADACL4 3 80946 3.70617E-5 40473 0 5.03525E-4
1-12726598-G-A p.Arg359His missense AADACL4 5 80948 6.1768E-5 40474 0 9.55414E-5
1-12726617-C-T p.Val365Val synonymous AADACL4 3 80956 3.70572E-5 40478 0 3.97747E-6
1-12726618-C-T p.Arg366Cys missense AADACL4 6 80958 7.41125E-5 40479 0 1.89769E-4
1-12726619-G-A p.Arg366His missense AADACL4 14 80956 1.72933E-4 40478 0 1.91144E-4
1-12726619-G-C p.Arg366Pro missense AADACL4 1 80956 1.23524E-5 40478 0 3.97772E-6
1-12726620-C-T p.Arg366Arg synonymous AADACL4 4 80952 4.9412E-5 40476 0 4.95066E-5
1-12726621-G-A p.Val367Met missense AADACL4 2 80954 2.47054E-5 40477 0 6.36943E-5
1-12726622-T-A p.Val367Glu missense AADACL4 1 80966 1.23509E-5 40483 0 NA
1-12726628-G-T p.Trp369Leu missense AADACL4 1 80968 1.23506E-5 40484 0 6.25E-4
1-12726636-C-T p.Leu372Leu synonymous AADACL4 978 80948 0.0120818 40474 36 0.0257137
1-12726639-T-C p.Tyr373His missense AADACL4 1 80958 1.23521E-5 40479 0 NA
1-12726654-G-A p.Gly378Arg missense AADACL4 5 80974 6.17482E-5 40487 0 0.003125
1-12726666-T-C p.Phe382Leu missense AADACL4 1 80986 1.23478E-5 40493 0 1.1958E-5
1-12726673-A-G p.Asp384Gly missense AADACL4 1 80980 1.23487E-5 40490 0 NA
1-12726681-G-C p.Ala387Pro missense AADACL4 3 80992 3.70407E-5 40496 0 5.03525E-4
1-12726683-T-G p.Ala387Ala synonymous AADACL4 1 80992 1.23469E-5 40496 0 8.30399E-6
1-12726694-C-T p.Pro391Leu missense AADACL4 1 80990 1.23472E-5 40495 0 NA
1-12726695-A-T p.Pro391Pro synonymous AADACL4 1 80996 1.23463E-5 40498 0 4.0016E-6
1-12726695-ATGTTCCC-A p.Cys392fs frameshift AADACL4 1 80996 1.23463E-5 40498 0 4.0016E-6
1-12726710-T-G p.Ile396Met missense AADACL4 2 80984 2.46962E-5 40492 0 NA
1-12726714-A-C p.Asn398His missense AADACL4 1 80976 1.23493E-5 40488 0 NA
1-12726718-C-T p.Ala399Val missense AADACL4 1 80968 1.23506E-5 40484 0 NA
1-12726737-G-A p.Lys405Lys synonymous AADACL4 11 80924 1.3593E-4 40462 0 0.00375
1-12726741-A-T p.Ile407Leu missense AADACL4 1 80912 1.23591E-5 40456 0 1.28241E-4