Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-49507945-G-C p.Ala1102Ala synonymous ADNP 1 82178 1.21687E-5 41089 0 3.18431E-5
20-49507951-T-C p.Gln1100Gln synonymous ADNP 8 82304 9.72006E-5 41152 0 3.1839E-5
20-49507972-G-A p.Ala1093Ala synonymous ADNP 81 82606 9.80558E-4 41303 0 0.00133801
20-49507988-A-G p.Met1088Thr missense ADNP 1 82856 1.20691E-5 41428 0 NA
20-49507989-T-C p.Met1088Val missense ADNP 1 82862 1.20683E-5 41431 0 8.35701E-6
20-49508003-C-CCAT p.Asp1082dup conservative_inframe_insertion ADNP 2 82988 2.40999E-5 41494 0 NA
20-49508010-T-A p.Thr1081Ser missense ADNP 1 83000 1.20482E-5 41500 0 8.26815E-6
20-49508015-T-C p.Asn1079Ser missense ADNP 27 83054 3.2509E-4 41527 0 2.23918E-4
20-49508023-C-G p.Gln1076His missense ADNP 1 83074 1.20375E-5 41537 0 3.1835E-5
20-49508044-A-T p.Ile1069Ile synonymous ADNP 1 83148 1.20267E-5 41574 0 1.59999E-5
20-49508046-T-C p.Ile1069Val missense ADNP 3 83158 3.60759E-5 41579 0 NA
20-49508066-A-G p.Ile1062Thr missense ADNP 5 83208 6.00904E-5 41604 0 6.37146E-5
20-49508068-C-A p.Gln1061His missense ADNP 1 83214 1.20172E-5 41607 0 1.64815E-5
20-49508079-A-G p.Ser1058Pro missense ADNP 2 83236 2.40281E-5 41618 0 5.03525E-4
20-49508083-G-A p.Arg1056Arg synonymous ADNP 1 83230 1.20149E-5 41615 0 4.00134E-6
20-49508084-C-T p.Arg1056His missense ADNP 2 83234 2.40286E-5 41617 0 6.25E-4
20-49508085-GCTC-G p.Glu1055del conservative_inframe_deletion ADNP 1 83236 1.2014E-5 41618 0 NA
20-49508085-G-A p.Arg1056Cys missense ADNP 5 83236 6.00702E-5 41618 0 1.64804E-5
20-49508086-CTCA-C p.Asp1054del disruptive_inframe_deletion ADNP 1 83246 1.20126E-5 41623 0 NA
20-49508092-A-C p.Asn1053Lys missense ADNP 2 83270 2.40183E-5 41635 0 8.2394E-6
20-49508104-A-G p.Asn1049Asn synonymous ADNP 2 83288 2.40131E-5 41644 0 3.59276E-5
20-49508133-A-G p.Trp1040Arg missense ADNP 1 83316 1.20025E-5 41658 0 NA
20-49508147-T-C p.Lys1035Arg missense ADNP 3 83316 3.60075E-5 41658 0 8.23845E-6
20-49508151-C-T p.Gly1034Arg missense ADNP 2 83316 2.4005E-5 41658 0 8.23832E-5
20-49508154-A-T p.Tyr1033Asn missense ADNP 1 83314 1.20028E-5 41657 0 8.23832E-6
20-49508155-G-A p.Ser1032Ser synonymous ADNP 3 83312 3.60092E-5 41656 0 6.36862E-5
20-49508159-C-T p.Ser1031Asn missense ADNP 1 83302 1.20045E-5 41651 0 NA
20-49508161-A-G p.Asn1030Asn synonymous ADNP 1 83304 1.20042E-5 41652 0 8.23805E-6
20-49508164-C-T p.Lys1029Lys synonymous ADNP 1 83300 1.20048E-5 41650 0 NA
20-49508178-GCTCT-G p.Arg1023fs frameshift ADNP 3 83294 3.6017E-5 41647 0 3.97953E-6
20-49508190-C-T p.Gly1021Ser missense ADNP 2 83254 2.40229E-5 41627 0 3.29473E-5
20-49508193-G-C p.Gln1020Glu missense ADNP 12 83246 1.44151E-4 41623 0 3.82141E-4
20-49508199-T-C p.Thr1018Ala missense ADNP 1 83214 1.20172E-5 41607 0 5.03525E-4
20-49508203-CTTT-C p.Lys1016del disruptive_inframe_deletion ADNP 2 83184 2.40431E-5 41592 0 8.0468E-6
20-49508203-C-CT p.Ala1017fs frameshift ADNP 2 83172 2.40466E-5 41586 0 3.19591E-5
20-49508208-T-G p.Lys1015Gln missense ADNP 2 83156 2.40512E-5 41578 0 NA
20-49508232-T-C p.Arg1007Gly missense ADNP 1 83032 1.20435E-5 41516 0 3.18471E-5
20-49508234-G-C p.Ala1006Gly missense ADNP 4 83032 4.81742E-5 41516 0 6.3743E-5
20-49508241-C-G p.Glu1004Gln missense ADNP 2 83040 2.40848E-5 41520 0 3.18532E-5
20-49508242-G-A p.Ser1003Ser synonymous ADNP 5 83018 6.02279E-5 41509 0 9.56206E-5
20-49508250-A-C p.Ser1001Ala missense ADNP 1 83030 1.20438E-5 41515 0 NA
20-49508256-C-T p.Glu999Lys missense ADNP 1 83028 1.20441E-5 41514 0 8.23805E-6
20-49508257-G-A p.Asp998Asp synonymous ADNP 16 83026 1.92711E-4 41513 0 1.27462E-4
20-49508266-G-C p.Thr995Thr synonymous ADNP 1 83048 1.20412E-5 41524 0 NA
20-49508280-T-C p.Met991Val missense ADNP 3 83126 3.60898E-5 41563 0 3.21289E-4
20-49508283-C-T p.Glu990Lys missense ADNP 2 83120 2.40616E-5 41560 0 7.41424E-5
20-49508284-G-C p.Cys989Trp missense ADNP 1 83130 1.20294E-5 41565 0 3.97947E-6
20-49508288-G-A p.Thr988Ile missense ADNP 1 83166 1.20241E-5 41583 0 8.23886E-6
20-49508308-C-A p.Val981Val synonymous ADNP 154 83228 0.00185034 41614 1 0.00102159
20-49508313-G-T p.Gln980Lys missense ADNP 1 83238 1.20137E-5 41619 0 NA
20-49508318-G-A p.Ser978Phe missense ADNP 2 83226 2.4031E-5 41613 0 1.59176E-5
20-49508320-T-C p.Gly977Gly synonymous ADNP 41 83226 4.92634E-4 41613 0 7.96026E-4
20-49508328-C-A p.Gly975Trp missense ADNP 4 83222 4.80642E-5 41611 0 NA
20-49508328-C-T p.Gly975Arg missense ADNP 2 83222 2.40321E-5 41611 0 NA
20-49508329-A-T p.Ser974Arg missense ADNP 23 83216 2.76389E-4 41608 0 9.55034E-5
20-49508332-C-G p.Glu973Asp missense ADNP 1 83228 1.20152E-5 41614 0 NA
20-49508333-T-C p.Glu973Gly missense ADNP 1 83226 1.20155E-5 41613 0 7.95773E-6
20-49508333-T-A p.Glu973Val missense ADNP 2 83226 2.4031E-5 41613 0 NA
20-49508342-G-A p.Ser970Phe missense ADNP 2 83216 2.40338E-5 41608 0 NA
20-49508350-G-A p.Asp967Asp synonymous ADNP 1 83198 1.20195E-5 41599 0 5.56992E-5
20-49508355-T-C p.Lys966Glu missense ADNP 1 83194 1.20201E-5 41597 0 NA
20-49508360-T-G p.Glu964Ala missense ADNP 2 83184 2.40431E-5 41592 0 7.9557E-6
20-49508366-A-T p.Val962Asp missense ADNP 1 83208 1.20181E-5 41604 0 4.37525E-5
20-49508368-A-G p.Asp961Asp synonymous ADNP 1 83226 1.20155E-5 41613 0 1.64796E-5
20-49508371-G-A p.Asp960Asp synonymous ADNP 1 83216 1.20169E-5 41608 0 3.18451E-5
20-49508374-T-C p.Gln959Gln synonymous ADNP 2 83222 2.40321E-5 41611 0 8.23981E-6
20-49508381-A-G p.Val957Ala missense ADNP 2 83200 2.40385E-5 41600 0 3.97779E-6
20-49508395-T-G p.Ala952Ala synonymous ADNP 3 83256 3.60334E-5 41628 0 4.12018E-5
20-49508399-T-C p.Asn951Ser missense ADNP 1 83252 1.20117E-5 41626 0 NA
20-49508400-T-C p.Asn951Asp missense ADNP 2 83244 2.40258E-5 41622 0 8.24008E-6
20-49508402-T-C p.His950Arg missense ADNP 3 83252 3.60352E-5 41626 0 7.95456E-6
20-49508406-T-G p.Met949Leu missense ADNP 1 83260 1.20106E-5 41630 0 NA
20-49508415-T-C p.Thr946Ala missense ADNP 2 83258 2.40217E-5 41629 0 5.03525E-4
20-49508416-T-A p.Pro945Pro synonymous ADNP 1 83260 1.20106E-5 41630 0 NA
20-49508430-A-C p.Leu941Val missense ADNP 4 83280 4.80307E-5 41640 0 NA
20-49508432-T-C p.His940Arg missense ADNP 1 83274 1.20085E-5 41637 0 NA
20-49508436-T-G p.Ile939Leu missense ADNP 8 83274 9.60684E-5 41637 0 1.73093E-4
20-49508441-T-A p.Glu937Val missense ADNP 1 83274 1.20085E-5 41637 0 1.19351E-5
20-49508443-G-A p.Tyr936Tyr synonymous ADNP 2 83264 2.402E-5 41632 0 4.61627E-4
20-49508463-T-C p.Lys930Glu missense ADNP 4 83248 4.80492E-5 41624 0 0.00151057
20-49508469-C-G p.Asp928His missense ADNP 26 83228 3.12395E-4 41614 0 0.00125
20-49508479-C-G p.Glu924Asp missense ADNP 36 83198 4.32703E-4 41599 0 6.25E-4
20-49508483-G-C p.Ser923Cys missense ADNP 1 83202 1.20189E-5 41601 0 3.98168E-6
20-49508495-T-A p.Asp919Val missense ADNP 1 83168 1.20239E-5 41584 0 NA
20-49508502-G-A p.Pro917Ser missense ADNP 19 83168 2.28453E-4 41584 0 1.91046E-4
20-49508504-A-G p.Ile916Thr missense ADNP 1 83168 1.20239E-5 41584 0 1.6487E-5
20-49508505-T-A p.Ile916Phe missense ADNP 1 83170 1.20236E-5 41585 0 7.96109E-6
20-49508508-C-T p.Val915Ile missense ADNP 115 83178 0.00138258 41589 0 0.00299306
20-49508514-G-T p.Leu913Met missense ADNP 2 83184 2.40431E-5 41592 0 3.98057E-6
20-49508526-C-T p.Glu909Lys missense ADNP 12 83150 1.44317E-4 41575 0 9.55231E-5
20-49508528-G-A p.Pro908Leu missense ADNP 1 83146 1.2027E-5 41573 0 3.98038E-6
20-49508535-C-T p.Asp906Asn missense ADNP 4 83138 4.81128E-5 41569 0 9.55536E-5
20-49508536-G-A p.Asn905Asn synonymous ADNP 8 83146 9.62163E-5 41573 0 6.25E-4
20-49508553-C-T p.Glu900Lys missense ADNP 1 83094 1.20346E-5 41547 0 NA
20-49508553-C-G p.Glu900Gln missense ADNP 1 83094 1.20346E-5 41547 0 3.98099E-6
20-49508556-CTTCAAAAACAGG-C p.Pro895_Glu898del conservative_inframe_deletion ADNP 1 83088 1.20354E-5 41544 0 NA
20-49508562-A-G p.Phe897Leu missense ADNP 1 83050 1.20409E-5 41525 0 NA
20-49508565-C-T p.Val896Ile missense ADNP 2 83038 2.40854E-5 41519 0 NA
20-49508567-G-C p.Pro895Arg missense ADNP 1 83030 1.20438E-5 41515 0 2.47247E-5
20-49508569-G-A p.Asp894Asp synonymous ADNP 1 83008 1.2047E-5 41504 0 NA
20-49508575-A-C p.Pro892Pro synonymous ADNP 1 82974 1.2052E-5 41487 0 0.00100705
20-49508577-G-A p.Pro892Ser missense ADNP 1 82940 1.20569E-5 41470 0 NA
20-49508584-A-T p.Ser889Arg missense ADNP 7 82878 8.44615E-5 41439 0 9.89218E-5
20-49508584-A-C p.Ser889Arg missense ADNP 2 82878 2.41319E-5 41439 0 6.36821E-5
20-49508585-C-G p.Ser889Thr missense ADNP 121 82886 0.00145984 41443 1 0.00302509
20-49508600-T-C p.Glu884Gly missense ADNP 1 82774 1.20811E-5 41387 0 NA
20-49508602-T-C p.Glu883Glu synonymous ADNP 1 82746 1.20852E-5 41373 0 8.24498E-6
20-49508634-C-A p.Asp873Tyr missense ADNP 3 82670 3.62889E-5 41335 0 9.89266E-5
20-49508641-C-T p.Lys870Lys synonymous ADNP 1 82656 1.20983E-5 41328 0 3.98495E-6
20-49508650-G-A p.Asn867Asn synonymous ADNP 2 82706 2.4182E-5 41353 0 3.98464E-6
20-49508679-C-T p.Ala858Thr missense ADNP 3 82870 3.62013E-5 41435 0 NA
20-49508681-T-C p.Asn857Ser missense ADNP 3 82906 3.61856E-5 41453 0 0.00125
20-49508682-T-C p.Asn857Asp missense ADNP 1 82910 1.20613E-5 41455 0 NA
20-49508683-G-A p.Val856Val synonymous ADNP 4209 82862 0.0507953 41431 350 0.09747
20-49508690-G-A p.Ser854Phe missense ADNP 16 82934 1.92924E-4 41467 0 1.91058E-4
20-49508694-CCTT-C p.Lys852del conservative_inframe_deletion ADNP 1 82966 1.20531E-5 41483 0 1.19457E-5
20-49508697-T-C p.Lys852Glu missense ADNP 3 82972 3.61568E-5 41486 0 0.00100705
20-49508698-CTCA-C p.Asp850del disruptive_inframe_deletion ADNP 2 82980 2.41022E-5 41490 0 3.18451E-5
20-49508699-TC-T p.Glu851fs frameshift ADNP 1 82982 1.20508E-5 41491 0 NA
20-49508729-T-A p.Asp841Val missense ADNP 1 83122 1.20305E-5 41561 0 3.97921E-6
20-49508752-T-TTTA p.Asn832dup disruptive_inframe_insertion ADNP 1 83156 1.20256E-5 41578 0 NA
20-49508776-C-A p.Gly825Gly synonymous ADNP 442 83162 0.00531493 41581 5 0.00719745
20-49508785-C-T p.Val822Val synonymous ADNP 1 83126 1.20299E-5 41563 0 8.239E-6
20-49508788-G-A p.Gly821Gly synonymous ADNP 9 83126 1.08269E-4 41563 0 5.03525E-4
20-49508812-A-T p.Arg813Arg synonymous ADNP 1 83048 1.20412E-5 41524 0 NA
20-49508814-G-T p.Arg813Ser missense ADNP 1 83038 1.20427E-5 41519 0 NA
20-49508815-G-A p.Val812Val synonymous ADNP 1 83024 1.20447E-5 41512 0 NA
20-49508819-C-CTTGTTGGGATCCAGGCCCACTCTCAGATGGAG p.Cys811fs frameshift ADNP 1 83016 1.20459E-5 41508 0 NA
20-49508832-T-C p.Lys807Glu missense ADNP 1 82932 1.20581E-5 41466 0 NA
20-49508845-G-T p.Ser802Ser synonymous ADNP 10 82904 1.20621E-4 41452 0 1.27389E-4
20-49508851-G-A p.Ile800Ile synonymous ADNP 2 82912 2.4122E-5 41456 0 5.03525E-4
20-49508853-T-C p.Ile800Val missense ADNP 1 82926 1.20589E-5 41463 0 3.1835E-5
20-49508887-C-T p.Lys788Lys synonymous ADNP 2 83024 2.40894E-5 41512 0 1.19423E-5
20-49508899-T-C p.Arg784Arg synonymous ADNP 1 83088 1.20354E-5 41544 0 NA
20-49508908-G-A p.Pro781Pro synonymous ADNP 2 83098 2.4068E-5 41549 0 2.22973E-4
20-49508914-G-A p.Pro779Pro synonymous ADNP 1 83106 1.20328E-5 41553 0 5.03525E-4
20-49508920-T-C p.Lys777Lys synonymous ADNP 1 83110 1.20322E-5 41555 0 NA
20-49508921-T-C p.Lys777Arg missense ADNP 1 83120 1.20308E-5 41560 0 6.36902E-5
20-49508934-T-C p.Lys773Glu missense ADNP 15 83130 1.8044E-4 41565 0 4.77555E-4
20-49508941-A-G p.Phe770Phe synonymous ADNP 11 83134 1.32317E-4 41567 0 6.25E-4
20-49508956-T-C p.Glu765Glu synonymous ADNP 1 83140 1.20279E-5 41570 0 8.24226E-6
20-49508983-G-A p.Pro756Pro synonymous ADNP 1 83130 1.20294E-5 41565 0 3.18492E-5
20-49508985-G-T p.Pro756Thr missense ADNP 1 83116 1.20314E-5 41558 0 NA
20-49508997-AAAC-A p.Val751del conservative_inframe_deletion ADNP 1 83120 1.20308E-5 41560 0 2.47378E-5
20-49509005-G-A p.Pro749Leu missense ADNP 2 83106 2.40657E-5 41553 0 8.24552E-6
20-49509014-G-A p.Pro746Leu missense ADNP 1 83096 1.20343E-5 41548 0 NA
20-49509022-T-C p.Glu743Glu synonymous ADNP 1 83076 1.20372E-5 41538 0 8.24484E-6
20-49509025-AAAG-A p.Phe742del disruptive_inframe_deletion ADNP 3 83086 3.61072E-5 41543 0 6.36943E-5
20-49509029-A-C p.Phe741Cys missense ADNP 5 83086 6.01786E-5 41543 0 3.18451E-5
20-49509045-TATC-T p.Asp735del conservative_inframe_deletion ADNP 4 83126 4.81197E-5 41563 0 1.98984E-5
20-49509052-A-C p.Asp733Glu missense ADNP 1 83122 1.20305E-5 41561 0 NA
20-49509061-T-C p.Arg730Arg synonymous ADNP 1 83142 1.20276E-5 41571 0 NA
20-49509062-C-T p.Arg730Gln missense ADNP 5 83142 6.01381E-5 41571 0 3.18451E-5
20-49509071-A-G p.Leu727Pro missense ADNP 1 83168 1.20239E-5 41584 0 NA
20-49509077-G-T p.Pro725His missense ADNP 1 83204 1.20187E-5 41602 0 8.23683E-6
20-49509094-G-A p.Tyr719Tyr synonymous ADNP 4 83276 4.8033E-5 41638 0 2.47105E-5
20-49509095-TAA-GAG p.ThrTyr718ThrSer missense ADNP 5 83278 6.00399E-5 41639 0 NA
20-49509095-T-G p.Tyr719Ser missense ADNP 2 83278 2.40159E-5 41639 0 2.38652E-5
20-49509097-A-G p.Thr718Thr synonymous ADNP 2 83290 2.40125E-5 41645 0 2.38644E-5
20-49509099-T-C p.Thr718Ala missense ADNP 1 83284 1.20071E-5 41642 0 8.23642E-6
20-49509101-C-T p.Arg717His missense ADNP 5 83286 6.00341E-5 41643 0 5.76559E-5
20-49509102-G-A p.Arg717Cys missense ADNP 5 83286 6.00341E-5 41643 0 7.55732E-5
20-49509108-C-T p.Val715Met missense ADNP 1 83304 1.20042E-5 41652 0 8.23642E-6
20-49509108-C-A p.Val715Leu missense ADNP 1 83304 1.20042E-5 41652 0 NA
20-49509113-G-A p.Ala713Val missense ADNP 5 83308 6.00182E-5 41654 0 1.64731E-5
20-49509122-G-C p.Pro710Arg missense ADNP 2 83322 2.40033E-5 41661 0 NA
20-49509139-A-C p.Ser704Ser synonymous ADNP 1 83352 1.19973E-5 41676 0 NA
20-49509160-C-T p.Gln697Gln synonymous ADNP 1 83378 1.19936E-5 41689 0 NA
20-49509163-G-T p.Gly696Gly synonymous ADNP 1 83380 1.19933E-5 41690 0 1.64731E-5
20-49509166-A-AT p.Asn695fs frameshift ADNP 1 83376 1.19939E-5 41688 0 NA
20-49509174-T-C p.Thr693Ala missense ADNP 1 83378 1.19936E-5 41689 0 NA
20-49509175-C-T p.Lys692Lys synonymous ADNP 1794 83360 0.0215211 41680 38 0.0345311
20-49509183-C-T p.Val690Ile missense ADNP 1 83376 1.19939E-5 41688 0 1.64742E-5
20-49509184-G-A p.Gly689Gly synonymous ADNP 6898 83310 0.0827992 41655 307 0.117825
20-49509223-G-A p.Thr676Thr synonymous ADNP 2 83340 2.39981E-5 41670 0 6.37024E-5
20-49509255-G-A p.His666Tyr missense ADNP 1 83242 1.20132E-5 41621 0 NA
20-49509265-G-A p.Tyr662Tyr synonymous ADNP 1 83210 1.20178E-5 41605 0 NA
20-49509274-C-CT p.Leu660fs frameshift ADNP 1 83190 1.20207E-5 41595 0 NA
20-49509295-C-T p.Thr652Thr synonymous ADNP 6 83188 7.21258E-5 41594 0 6.36902E-5
20-49509302-A-G p.Ile650Thr missense ADNP 1 83216 1.20169E-5 41608 0 NA
20-49509303-T-A p.Ile650Phe missense ADNP 1 83206 1.20184E-5 41603 0 NA
20-49509313-C-T p.Arg646Arg synonymous ADNP 1 83200 1.20192E-5 41600 0 NA
20-49509314-C-T p.Arg646Lys missense ADNP 1 83206 1.20184E-5 41603 0 3.97826E-6
20-49509319-T-C p.Arg644Arg synonymous ADNP 16 83216 1.92271E-4 41608 0 2.22902E-4
20-49509319-T-G p.Arg644Arg synonymous ADNP 2 83216 2.40338E-5 41608 0 NA
20-49509320-C-T p.Arg644Gln missense ADNP 2 83210 2.40356E-5 41605 0 8.23683E-6
20-49509321-G-T p.Arg644Arg synonymous ADNP 3 83216 3.60508E-5 41608 0 1.98927E-5
20-49509330-G-A p.His641Tyr missense ADNP 1 83230 1.20149E-5 41615 0 NA
20-49509340-A-G p.Asp637Asp synonymous ADNP 2 83254 2.40229E-5 41627 0 NA
20-49509358-T-C p.Leu631Leu synonymous ADNP 4 83254 4.80457E-5 41627 0 1.11393E-4
20-49509361-G-A p.Ile630Ile synonymous ADNP 1 83252 1.20117E-5 41626 0 3.97852E-6
20-49509414-C-G p.Val613Leu missense ADNP 1 83252 1.20117E-5 41626 0 7.95773E-6
20-49509443-A-T p.Ile603Asn missense ADNP 1 83278 1.2008E-5 41639 0 8.23791E-6
20-49509451-C-T p.Lys600Lys synonymous ADNP 1 83286 1.20068E-5 41643 0 NA
20-49509460-A-G p.Val597Val synonymous ADNP 1 83282 1.20074E-5 41641 0 8.23764E-6
20-49509462-C-T p.Val597Ile missense ADNP 2 83282 2.40148E-5 41641 0 8.23778E-6
20-49509483-G-A p.Pro590Ser missense ADNP 2 83316 2.4005E-5 41658 0 8.23696E-6
20-49509487-T-C p.Pro588Pro synonymous ADNP 1 83324 1.20013E-5 41662 0 6.36983E-5
20-49509492-G-A p.Pro587Ser missense ADNP 1 83328 1.20008E-5 41664 0 1.64731E-5
20-49509497-T-C p.Asn585Ser missense ADNP 3 83326 3.60032E-5 41663 0 3.29468E-5
20-49509499-T-C p.Gln584Gln synonymous ADNP 18 83334 2.15998E-4 41667 0 6.68662E-4
20-49509504-C-A p.Ala583Ser missense ADNP 3 83334 3.59997E-5 41667 0 9.55475E-5
20-49509514-A-G p.Val579Val synonymous ADNP 3 83330 3.60014E-5 41665 0 3.18451E-5
20-49509519-A-C p.Ser578Ala missense ADNP 2 83322 2.40033E-5 41661 0 NA
20-49509541-A-G p.Asn570Asn synonymous ADNP 2 83302 2.4009E-5 41651 0 1.64739E-5
20-49509547-T-C p.Thr568Thr synonymous ADNP 4 83306 4.80158E-5 41653 0 1.59136E-5
20-49509568-G-A p.Asn561Asn synonymous ADNP 7 83246 8.40881E-5 41623 0 7.55924E-5
20-49509572-G-C p.Thr560Ser missense ADNP 1 83226 1.20155E-5 41613 0 NA
20-49509575-T-A p.His559Leu missense ADNP 5 83222 6.00803E-5 41611 1 NA
20-49509587-T-G p.Gln555Pro missense ADNP 1 83168 1.20239E-5 41584 0 NA
20-49509592-T-C p.Thr553Thr synonymous ADNP 2 83144 2.40547E-5 41572 0 3.58123E-5
20-49509645-T-G p.Ile536Leu missense ADNP 1 82682 1.20945E-5 41341 0 NA
20-49509645-T-C p.Ile536Val missense ADNP 2 82682 2.41891E-5 41341 0 8.23845E-6
20-49509655-C-A p.Arg532Arg synonymous ADNP 1 82638 1.2101E-5 41319 0 1.99214E-5
20-49509656-C-T p.Arg532Gln missense ADNP 1 82630 1.21021E-5 41315 0 6.25E-4
20-49509657-G-A p.Arg532Trp missense ADNP 3 82628 3.63073E-5 41314 0 NA
20-49509660-T-G p.Met531Leu missense ADNP 1 82642 1.21004E-5 41321 0 8.23845E-6
20-49509667-G-A p.Ala528Ala synonymous ADNP 4 82630 4.84086E-5 41315 0 4.78236E-5
20-49509692-G-A p.Thr520Ile missense ADNP 1 82694 1.20928E-5 41347 0 NA
20-49509704-T-C p.Tyr516Cys missense ADNP 1 82788 1.2079E-5 41394 0 NA
20-49509737-T-C p.Asn505Ser missense ADNP 1 82942 1.20566E-5 41471 0 NA
20-49509739-G-T p.Leu504Leu synonymous ADNP 1 82958 1.20543E-5 41479 0 NA
20-49509754-G-A p.Pro499Pro synonymous ADNP 3 83018 3.61367E-5 41509 0 NA
20-49509775-G-A p.Leu492Leu synonymous ADNP 1 83094 1.20346E-5 41547 0 8.23655E-6
20-49509781-T-C p.Lys490Lys synonymous ADNP 2 83130 2.40587E-5 41565 0 7.95786E-6
20-49509793-A-G p.Asn486Asn synonymous ADNP 1 83168 1.20239E-5 41584 0 NA
20-49509808-A-T p.Ile481Ile synonymous ADNP 1 83204 1.20187E-5 41602 0 3.9781E-6
20-49509810-T-C p.Ile481Val missense ADNP 1 83208 1.20181E-5 41604 0 NA
20-49509823-T-C p.Ala476Ala synonymous ADNP 10 83250 1.2012E-4 41625 0 2.54647E-4
20-49509826-T-A p.Pro475Pro synonymous ADNP 1 83266 1.20097E-5 41633 0 3.9776E-6
20-49509838-A-C p.Ala471Ala synonymous ADNP 1 83268 1.20094E-5 41634 0 NA
20-49509856-G-A p.Phe465Phe synonymous ADNP 3 83284 3.60213E-5 41642 0 8.23669E-6
20-49509863-A-G p.Val463Ala missense ADNP 2 83282 2.40148E-5 41641 0 4.77426E-5
20-49509865-A-G p.Ser462Ser synonymous ADNP 1 83268 1.20094E-5 41634 0 3.97867E-6
20-49509871-G-C p.Val460Val synonymous ADNP 1 83286 1.20068E-5 41643 0 8.23764E-6
20-49509874-A-G p.Asn459Asn synonymous ADNP 6 83284 7.20426E-5 41642 0 6.36943E-5
20-49509919-T-C p.Gln444Gln synonymous ADNP 1 83296 1.20054E-5 41648 0 NA
20-49509931-A-C p.Thr440Thr synonymous ADNP 1 83294 1.20057E-5 41647 0 NA
20-49509945-G-C p.Pro436Ala missense ADNP 1 83296 1.20054E-5 41648 0 3.97871E-6
20-49509953-G-C p.Thr433Arg missense ADNP 2 83290 2.40125E-5 41645 0 NA
20-49509969-G-A p.Pro428Ser missense ADNP 4 83288 4.80261E-5 41644 0 NA
20-49509978-T-C p.Ser425Gly missense ADNP 1 83282 1.20074E-5 41641 0 NA
20-49510013-G-A p.Ser413Phe missense ADNP 1 83274 1.20085E-5 41637 0 8.23845E-6
20-49510015-G-A p.Leu412Leu synonymous ADNP 1 83282 1.20074E-5 41641 0 1.64769E-5
20-49510018-G-C p.Ser411Ser synonymous ADNP 1 83272 1.20088E-5 41636 0 3.98172E-6
20-49510027-C-T p.Lys408Lys synonymous ADNP 2 83248 2.40246E-5 41624 0 NA
20-49510039-C-G p.Ser404Ser synonymous ADNP 51 83224 6.12804E-4 41612 0 6.25E-4
20-49510051-A-G p.Ser400Ser synonymous ADNP 1 83218 1.20166E-5 41609 0 1.64761E-5
20-49510052-G-T p.Ser400Tyr missense ADNP 1 83206 1.20184E-5 41603 0 8.23778E-6
20-49510054-G-C p.Ala399Ala synonymous ADNP 1 83198 1.20195E-5 41599 0 NA
20-49510056-C-T p.Ala399Thr missense ADNP 2 83202 2.40379E-5 41601 0 NA
20-49510060-A-G p.Ala397Ala synonymous ADNP 2 83214 2.40344E-5 41607 0 NA
20-49510062-C-T p.Ala397Thr missense ADNP 1 83196 1.20198E-5 41598 0 3.98416E-6
20-49510072-G-T p.Ser393Ser synonymous ADNP 2 83196 2.40396E-5 41598 0 0.00151057
20-49510080-T-C p.Arg391Gly missense ADNP 1 83190 1.20207E-5 41595 0 NA
20-49510084-T-C p.Pro389Pro synonymous ADNP 1 83180 1.20221E-5 41590 0 NA
20-49510088-G-A p.Ala388Val missense ADNP 19 83160 2.28475E-4 41580 0 1.99098E-4
20-49510109-C-T p.Gly381Glu missense ADNP 2 83156 2.40512E-5 41578 0 NA
20-49510117-A-G p.Tyr378Tyr synonymous ADNP 2 83168 2.40477E-5 41584 0 4.94242E-5
20-49510118-T-C p.Tyr378Cys missense ADNP 1 83168 1.20239E-5 41584 0 8.23723E-6
20-49510129-G-A p.Asn374Asn synonymous ADNP 2 83140 2.40558E-5 41570 0 6.25E-4
20-49510141-A-C p.Leu370Leu synonymous ADNP 2 83094 2.40691E-5 41547 0 7.95912E-6
20-49510143-G-C p.Leu370Val missense ADNP 2 83100 2.40674E-5 41550 0 0.00100705
20-49510160-T-G p.Gln364Pro missense ADNP 1 83022 1.2045E-5 41511 0 NA
20-49510162-A-G p.Ser363Ser synonymous ADNP 1 83006 1.20473E-5 41503 0 1.64728E-5
20-49510165-T-C p.Gln362Gln synonymous ADNP 1 83008 1.2047E-5 41504 0 1.19407E-5
20-49510168-T-C p.Gln361Gln synonymous ADNP 1 82990 1.20496E-5 41495 0 0.00100705
20-49510175-A-G p.Ile359Thr missense ADNP 1 82986 1.20502E-5 41493 0 NA
20-49510176-T-C p.Ile359Val missense ADNP 201 82988 0.00242204 41494 0 0.00550991
20-49510180-A-G p.Val357Val synonymous ADNP 1 82978 1.20514E-5 41489 0 NA
20-49510188-C-T p.Ala355Thr missense ADNP 12 82946 1.44672E-4 41473 0 2.54777E-4
20-49510189-G-A p.Asn354Asn synonymous ADNP 1 82958 1.20543E-5 41479 0 6.25E-4
20-49510198-T-C p.Leu351Leu synonymous ADNP 1 82962 1.20537E-5 41481 0 3.98083E-6
20-49510202-C-T p.Gly350Asp missense ADNP 1 82954 1.20549E-5 41477 0 3.98051E-6
20-49510212-T-C p.Met347Val missense ADNP 7 82998 8.43394E-5 41499 0 6.25E-4
20-49510233-C-T p.Gly340Ser missense ADNP 3 83078 3.61106E-5 41539 0 5.03525E-4
20-49510237-G-C p.Gly338Gly synonymous ADNP 2 83092 2.40697E-5 41546 0 6.36983E-5
20-49510249-G-A p.Val334Val synonymous ADNP 1 83150 1.20265E-5 41575 0 1.19445E-5
20-49510256-T-C p.Tyr332Cys missense ADNP 1 83168 1.20239E-5 41584 0 1.19412E-5
20-49510260-T-A p.Asn331Tyr missense ADNP 1 83180 1.20221E-5 41590 0 1.19417E-5
20-49510266-G-C p.Gln329Glu missense ADNP 2 83194 2.40402E-5 41597 0 3.18454E-5
20-49510274-T-C p.His326Arg missense ADNP 1 83204 1.20187E-5 41602 0 NA
20-49510275-G-C p.His326Asp missense ADNP 1 83200 1.20192E-5 41600 0 NA
20-49510290-T-C p.Met321Val missense ADNP 4 83222 4.80642E-5 41611 0 NA
20-49510292-T-C p.Asn320Ser missense ADNP 1 83222 1.20161E-5 41611 0 1.19368E-5
20-49510297-T-C p.Gly318Gly synonymous ADNP 2 83208 2.40361E-5 41604 0 3.9788E-6
20-49510297-T-A p.Gly318Gly synonymous ADNP 2 83208 2.40361E-5 41604 0 NA
20-49510301-G-A p.Thr317Ile missense ADNP 1 83226 1.20155E-5 41613 0 8.23764E-6
20-49510302-T-C p.Thr317Ala missense ADNP 7 83216 8.41184E-5 41608 0 5.03525E-4
20-49510328-G-A p.Ser308Leu missense ADNP 2 83254 2.40229E-5 41627 0 NA
20-49510330-G-C p.Leu307Leu synonymous ADNP 4 83240 4.80538E-5 41620 0 6.37227E-5
20-49510331-A-T p.Leu307His missense ADNP 1 83242 1.20132E-5 41621 0 7.95602E-6
20-49510340-A-G p.Val304Ala missense ADNP 2 83232 2.40292E-5 41616 0 8.23669E-6
20-49510342-C-T p.Met303Ile missense ADNP 38 83238 4.56522E-4 41619 0 0.0020141
20-49510344-T-C p.Met303Val missense ADNP 2 83236 2.40281E-5 41618 0 NA
20-49510352-G-A p.Ser300Leu missense ADNP 1 83224 1.20158E-5 41612 0 NA
20-49510371-T-C p.Asn294Asp missense ADNP 1 83212 1.20175E-5 41606 0 NA
20-49510385-G-C p.Ser289Cys missense ADNP 2 83206 2.40367E-5 41603 0 1.5915E-5
20-49510390-G-A p.Ile287Ile synonymous ADNP 3 83210 3.60534E-5 41605 0 1.59226E-4
20-49510392-T-C p.Ile287Val missense ADNP 1 83220 1.20163E-5 41610 0 8.23655E-6
20-49510407-C-T p.Gly282Arg missense ADNP 1 83214 1.20172E-5 41607 0 NA
20-49510412-CTCT-C p.Lys279del disruptive_inframe_deletion ADNP 25 83222 3.00401E-4 41611 0 5.41401E-4
20-49510412-C-T p.Ser280Asn missense ADNP 1 83222 1.20161E-5 41611 0 1.19363E-5
20-49510434-G-A p.Pro273Ser missense ADNP 2 83304 2.40085E-5 41652 0 NA
20-49510441-T-C p.Leu270Leu synonymous ADNP 1 83310 1.20034E-5 41655 0 3.97852E-6
20-49510441-T-G p.Leu270Leu synonymous ADNP 1 83310 1.20034E-5 41655 0 3.18573E-5
20-49510450-G-C p.Pro267Pro synonymous ADNP 3 83316 3.60075E-5 41658 0 9.5476E-5
20-49510463-G-T p.Pro263His missense ADNP 1 83314 1.20028E-5 41657 0 NA
20-49510498-G-A p.Val251Val synonymous ADNP 2 83304 2.40085E-5 41652 0 7.95577E-6
20-49510528-G-C p.Ile241Met missense ADNP 1 83288 1.20065E-5 41644 0 NA
20-49510528-G-A p.Ile241Ile synonymous ADNP 4 83288 4.80261E-5 41644 0 6.25E-4
20-49510547-G-C p.Ala235Gly missense ADNP 1 83286 1.20068E-5 41643 0 8.23886E-6
20-49510556-G-A p.Ser232Phe missense ADNP 1 83280 1.20077E-5 41640 0 7.95482E-6
20-49510560-T-C p.Lys231Glu missense ADNP 1 83282 1.20074E-5 41641 0 3.97722E-6
20-49510585-G-A p.His222His synonymous ADNP 16 83266 1.92155E-4 41633 0 1.59205E-4
20-49510592-C-G p.Ser220Thr missense ADNP 1 83274 1.20085E-5 41637 0 8.2375E-6
20-49510598-T-C p.Glu218Gly missense ADNP 1 83288 1.20065E-5 41644 0 NA
20-49510601-T-C p.Glu217Gly missense ADNP 1 83290 1.20062E-5 41645 0 NA
20-49510604-C-T p.Arg216Gln missense ADNP 3 83284 3.60213E-5 41642 0 6.3674E-5
20-49510612-C-T p.Ser213Ser synonymous ADNP 7 83296 8.40377E-5 41648 0 1.40033E-4
20-49510613-G-A p.Ser213Leu missense ADNP 1 83296 1.20054E-5 41648 0 NA
20-49510620-A-G p.Leu211Leu synonymous ADNP 1 83308 1.20036E-5 41654 0 NA
20-49510621-G-T p.Pro210Pro synonymous ADNP 1 83302 1.20045E-5 41651 0 3.97943E-6
20-49510623-G-A p.Pro210Ser missense ADNP 1 83304 1.20042E-5 41652 0 NA
20-49510624-G-T p.Val209Val synonymous ADNP 2 83298 2.40102E-5 41649 0 1.59246E-4
20-49510642-T-C p.Lys203Lys synonymous ADNP 4 83336 4.79985E-5 41668 0 2.22958E-4
20-49510652-G-A p.Ala200Val missense ADNP 1 83328 1.20008E-5 41664 0 NA
20-49510653-C-T p.Ala200Thr missense ADNP 1 83332 1.20002E-5 41666 0 8.23683E-6
20-49510659-C-T p.Ala198Thr missense ADNP 2 83346 2.39964E-5 41673 1 NA
20-49510662-T-C p.Ile197Val missense ADNP 1 83348 1.19979E-5 41674 0 5.03525E-4
20-49510677-C-T p.Val192Met missense ADNP 1 83376 1.19939E-5 41688 0 NA
20-49510702-G-A p.His183His synonymous ADNP 2 83372 2.39889E-5 41686 0 6.36821E-5
20-49510708-C-T p.Arg181Arg synonymous ADNP 1 83378 1.19936E-5 41689 0 8.23683E-6
20-49510716-T-C p.Ile179Val missense ADNP 8 83372 9.59555E-5 41686 0 4.14039E-4
20-49510768-C-T p.Glu161Glu synonymous ADNP 3 83410 3.59669E-5 41705 0 3.29468E-5
20-49510790-GGT-G p.Lys153fs frameshift ADNP 1 83412 1.19887E-5 41706 0 NA
20-49510790-G-A p.Pro154Leu missense ADNP 3 83412 3.5966E-5 41706 0 9.55353E-5
20-49510796-AG-A p.Lys153fs frameshift ADNP 1 83418 1.19878E-5 41709 0 NA
20-49510804-ATTTTTG-A p.Lys148_Asn149del disruptive_inframe_deletion ADNP 5 83428 5.99319E-5 41714 0 3.5832E-5
20-49510822-G-T p.Phe143Leu missense ADNP 1 83428 1.19864E-5 41714 0 8.23737E-6
20-49510822-G-C p.Phe143Leu missense ADNP 1 83428 1.19864E-5 41714 0 NA
20-49510826-G-GTGC p.Ser141dup conservative_inframe_insertion ADNP 213 83426 0.00255316 41713 0 0.00229798
20-49510832-A-C p.Leu140Arg missense ADNP 1 83420 1.19875E-5 41710 0 NA
20-49510846-T-C p.Ala135Ala synonymous ADNP 1 83418 1.19878E-5 41709 0 6.25E-4
20-49510848-C-T p.Ala135Thr missense ADNP 2 83418 2.39756E-5 41709 0 2.39143E-5
20-49510849-G-A p.Ser134Ser synonymous ADNP 1 83420 1.19875E-5 41710 0 2.4715E-5
20-49510855-G-A p.Asn132Asn synonymous ADNP 1 83414 1.19884E-5 41707 0 6.25E-4
20-49510858-C-T p.Pro131Pro synonymous ADNP 1 83422 1.19872E-5 41711 0 1.35483E-4
20-49510859-G-A p.Pro131Leu missense ADNP 2 83420 2.39751E-5 41710 0 5.03525E-4
20-49510895-T-C p.Lys119Arg missense ADNP 10 83390 1.19918E-4 41695 0 7.56062E-5
20-49510903-T-C p.Ala116Ala synonymous ADNP 1 83364 1.19956E-5 41682 0 NA
20-49510907-T-A p.Asn115Ile missense ADNP 1 83364 1.19956E-5 41682 0 NA
20-49510911-A-C p.Phe114Val missense ADNP 2 83362 2.39917E-5 41681 0 NA
20-49510927-A-AGC p.Asn108fs frameshift ADNP 1 83318 1.20022E-5 41659 0 NA
20-49510927-A-G p.Asn108Asn synonymous ADNP 2 83318 2.40044E-5 41659 0 8.24171E-6
20-49510928-T-TGTTTATTACTG p.Asn108fs frameshift ADNP 1 83318 1.20022E-5 41659 0 NA
20-49510932-G-T p.Leu107Ile missense ADNP 1 83302 1.20045E-5 41651 0 NA
20-49510933-G-A p.Leu106Leu synonymous ADNP 1 83300 1.20048E-5 41650 0 8.24266E-6
20-49510942-A-AT p.Asn103fs frameshift ADNP 1 83268 1.20094E-5 41634 0 NA
20-49510945-T-TATGAAATAG p.Glu102delinsAspTyrPheIle disruptive_inframe_insertion ADNP 1 83240 1.20135E-5 41620 0 NA
20-49510947-C-T p.Glu102Lys missense ADNP 3 83220 3.6049E-5 41610 0 NA
20-49510947-C-G p.Glu102Gln missense ADNP 1 83220 1.20163E-5 41610 0 3.98343E-6
20-49510960-A-G p.His97His synonymous ADNP 1 83142 1.20276E-5 41571 0 1.27372E-4
20-49510966-A-G p.Asn95Asn synonymous ADNP 1 83106 1.20328E-5 41553 0 1.20425E-5
20-49511014-A-G p.Cys79Cys synonymous ADNP 2 82984 2.4101E-5 41492 0 4.13377E-6
20-49511055-G-A c.202-6C>T splice_region ADNP 1 82696 1.20925E-5 41348 0 8.96395E-6
20-49518577-C-T p.Asp60Asn missense ADNP 2 82964 2.41068E-5 41482 0 NA
20-49518583-G-A p.Leu58Leu synonymous ADNP 4 82976 4.82067E-5 41488 0 3.1841E-5
20-49518602-A-G p.Thr51Thr synonymous ADNP 1 82964 1.20534E-5 41482 0 NA
20-49518636-T-C p.Gln40Arg missense ADNP 1 82654 1.20986E-5 41327 0 3.1839E-5
20-49518641-A-G p.Phe38Phe synonymous ADNP 2 82522 2.4236E-5 41261 0 7.968E-6
20-49518651-A-G c.109-5T>C splice_region ADNP 1 82286 1.21527E-5 41143 0 2.47946E-5
20-49520430-A-G p.Ile35Thr missense ADNP 3 82856 3.62074E-5 41428 0 4.80642E-5
20-49520463-C-G p.Ser24Thr missense ADNP 1 83070 1.2038E-5 41535 0 NA
20-49520504-G-T p.Gly10Gly synonymous ADNP 1 83022 1.2045E-5 41511 0 3.18918E-5
20-49520525-T-C p.Gln3Gln synonymous ADNP 5 82916 6.0302E-5 41458 0 NA
20-49520539-C-CAG c.-5-2_-5-1insCT splice_acceptor ADNP 1 82728 1.20878E-5 41364 0 NA
20-49520540-T-TTCATCATC c.-5-3_-5-2insGATGATGA splice_region ADNP 1 82692 1.20931E-5 41346 0 NA
20-49520542-T-C c.-5-4A>G splice_region ADNP 1 82634 1.21016E-5 41317 0 9.12076E-6
20-49520543-T-TG c.-5-6dupC splice_region ADNP 1 82590 1.2108E-5 41295 0 9.16221E-6
20-49520546-A-G c.-5-8T>C splice_region ADNP 1 82512 1.21194E-5 41256 0 6.81677E-5
20-49520557-T-C c.-24A>G 5_prime_UTR_premature_start_codon_gain ADNP 1 82264 1.2156E-5 41132 0 NA
20-49520587-A-C c.-54T>G 5_prime_UTR_premature_start_codon_gain ADNP 1 80180 1.24719E-5 40090 0 NA
20-49520611-T-C c.-78A>G 5_prime_UTR_premature_start_codon_gain ADNP 38 76976 4.9366E-4 38488 0 0.00136925
20-49520639-A-G c.-106T>C 5_prime_UTR_premature_start_codon_gain ADNP 1 71964 1.38958E-5 35982 0 NA
20-49520640-A-C c.-107T>G 5_prime_UTR_premature_start_codon_gain ADNP 1 71868 1.39144E-5 35934 0 NA
20-49520650-T-C c.-117A>G 5_prime_UTR_premature_start_codon_gain ADNP 4 69794 5.73115E-5 34897 0 4.1396E-4
20-49520733-C-A c.-200G>T 5_prime_UTR_premature_start_codon_gain ADNP 4 42610 9.38747E-5 21305 0 NA
20-49520734-T-A c.-201A>T 5_prime_UTR_premature_start_codon_gain ADNP 2 42222 4.73687E-5 21111 0 1.27877E-4
20-49520821-C-A c.-288G>T 5_prime_UTR_premature_start_codon_gain ADNP 2 8216 2.43427E-4 4108 0 3.1841E-5
20-49526226-G-A c.-195C>T 5_prime_UTR_premature_start_codon_gain ADNP 1 8 0.125 4 0 0.0828013
20-49545243-C-A c.-61G>T 5_prime_UTR_premature_start_codon_gain ADNP 1 2956 3.38295E-4 1478 0 NA