Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-140372984-G-C c.-147G>C 5_prime_UTR_premature_start_codon_gain ADCK2 1 28618 3.4943E-5 14309 0 NA
7-140372989-G-T c.-142G>T 5_prime_UTR_premature_start_codon_gain ADCK2 1 30652 3.26243E-5 15326 0 NA
7-140373080-G-T c.-51G>T 5_prime_UTR_premature_start_codon_gain ADCK2 4 70034 5.71151E-5 35017 0 3.20225E-5
7-140373093-G-A c.-38G>A 5_prime_UTR_premature_start_codon_gain ADCK2 1 73086 1.36825E-5 36543 0 NA
7-140373118-G-T c.-13G>T 5_prime_UTR_premature_start_codon_gain ADCK2 2 74794 2.67401E-5 37397 0 1.82242E-5
7-140373154-C-T p.Ser8Ser synonymous ADCK2 1 76540 1.30651E-5 38270 0 5.10204E-4
7-140373156-T-C p.Val9Ala missense ADCK2 1 76590 1.30565E-5 38295 0 9.26526E-6
7-140373160-G-T p.Arg10Ser missense ADCK2 1 76740 1.3031E-5 38370 0 1.01461E-4
7-140373165-G-A p.Cys12Tyr missense ADCK2 1 76828 1.30161E-5 38414 0 8.86682E-5
7-140373188-G-C p.Glu20Gln missense ADCK2 1 77586 1.28889E-5 38793 0 NA
7-140373196-A-G p.Arg22Arg synonymous ADCK2 1 77798 1.28538E-5 38899 0 NA
7-140373205-C-T p.Leu25Leu synonymous ADCK2 1 78030 1.28156E-5 39015 0 2.88951E-5
7-140373209-C-T p.Leu27Phe missense ADCK2 3 78132 3.83966E-5 39066 0 NA
7-140373226-G-A p.Glu32Glu synonymous ADCK2 1 78148 1.27962E-5 39074 0 3.79708E-5
7-140373227-T-G p.Cys33Gly missense ADCK2 1 78066 1.28097E-5 39033 0 NA
7-140373236-G-C p.Asp36His missense ADCK2 1 78278 1.2775E-5 39139 0 NA
7-140373238-T-G p.Asp36Glu missense ADCK2 1 78406 1.27541E-5 39203 0 NA
7-140373239-G-A p.Ala37Thr missense ADCK2 1 78466 1.27444E-5 39233 0 3.04711E-5
7-140373248-T-G p.Cys40Gly missense ADCK2 4 78970 5.06521E-5 39485 0 6.25E-4
7-140373254-C-T p.Leu42Phe missense ADCK2 305 79218 0.00385014 39609 0 0.00616283
7-140373288-T-C p.Leu53Pro missense ADCK2 2 80266 2.49171E-5 40133 0 NA
7-140373302-G-C p.Gly58Arg missense ADCK2 2 80474 2.48527E-5 40237 0 8.47903E-6
7-140373326-A-G p.Ser66Gly missense ADCK2 15426 80082 0.192628 40041 2356 0.263609
7-140373330-G-A p.Arg67Gln missense ADCK2 319 80848 0.00394568 40424 4 0.00782848
7-140373337-G-A p.Arg69Arg synonymous ADCK2 3 80994 3.70398E-5 40497 0 NA
7-140373337-G-T p.Arg69Ser missense ADCK2 2 80994 2.46932E-5 40497 0 NA
7-140373339-T-G p.Val70Gly missense ADCK2 1 80906 1.236E-5 40453 0 NA
7-140373342-G-A p.Arg71His missense ADCK2 1 80874 1.23649E-5 40437 0 4.29738E-6
7-140373350-G-T p.Gly74Trp missense ADCK2 3 80968 3.70517E-5 40484 0 8.58959E-6
7-140373361-C-A p.Gly77Gly synonymous ADCK2 1 80526 1.24183E-5 40263 0 NA
7-140373362-G-T p.Ala78Ser missense ADCK2 1 80520 1.24193E-5 40260 0 NA
7-140373382-C-A p.Leu84Leu synonymous ADCK2 1 80618 1.24042E-5 40309 0 8.93799E-6
7-140373383-C-G p.Pro85Ala missense ADCK2 3 80626 3.72088E-5 40313 0 9.57793E-5
7-140373384-C-T p.Pro85Leu missense ADCK2 1 80602 1.24066E-5 40301 0 8.91774E-6
7-140373386-C-T p.Arg86* stop_gained ADCK2 2 80516 2.48398E-5 40258 0 1.67884E-5
7-140373386-C-A p.Arg86Arg synonymous ADCK2 1 80516 1.24199E-5 40258 0 3.55897E-5
7-140373386-C-G p.Arg86Gly missense ADCK2 1 80516 1.24199E-5 40258 0 2.66923E-5
7-140373388-A-G p.Arg86Arg synonymous ADCK2 7 80250 8.72274E-5 40125 0 2.56164E-4
7-140373393-G-C p.Gly88Ala missense ADCK2 1 80594 1.24079E-5 40297 0 NA
7-140373394-A-G p.Gly88Gly synonymous ADCK2 1 80422 1.24344E-5 40211 0 NA
7-140373398-C-T p.Leu90Leu synonymous ADCK2 1 80716 1.23891E-5 40358 0 5.77358E-5
7-140373404-G-A p.Gly92Ser missense ADCK2 1 80674 1.23956E-5 40337 0 1.23056E-5
7-140373417-A-T p.His96Leu missense ADCK2 2 81136 2.465E-5 40568 0 NA
7-140373419-C-T p.Leu97Phe missense ADCK2 1 81182 1.2318E-5 40591 0 8.4664E-6
7-140373423-G-A p.Arg98His missense ADCK2 62 81150 7.64017E-4 40575 0 0.00178868
7-140373430-G-A p.Trp100* stop_gained ADCK2 1 81322 1.22968E-5 40661 0 NA
7-140373435-G-C p.Arg102Pro missense ADCK2 2 81076 2.46682E-5 40538 0 NA
7-140373438-C-A p.Ala103Asp missense ADCK2 2 81106 2.46591E-5 40553 0 9.58099E-5
7-140373442-C-T p.Gly104Gly synonymous ADCK2 1 81192 1.23165E-5 40596 0 NA
7-140373444-C-G p.Ala105Gly missense ADCK2 1 81418 1.22823E-5 40709 0 NA
7-140373464-C-T p.Pro112Ser missense ADCK2 2 82020 2.43843E-5 41010 0 1.20407E-5
7-140373466-C-T p.Pro112Pro synonymous ADCK2 2 82072 2.43688E-5 41036 0 4.01113E-6
7-140373469-C-T p.Leu113Leu synonymous ADCK2 7 82194 8.51644E-5 41097 0 4.00782E-6
7-140373480-A-G p.Tyr117Cys missense ADCK2 69 82328 8.38111E-4 41164 1 5.98101E-4
7-140373481-C-T p.Tyr117Tyr synonymous ADCK2 1 82462 1.21268E-5 41231 0 2.56295E-4
7-140373482-C-T p.Pro118Ser missense ADCK2 1 82490 1.21227E-5 41245 0 3.19264E-5
7-140373484-C-G p.Pro118Pro synonymous ADCK2 7 82540 8.48074E-5 41270 0 4.13278E-5
7-140373485-C-A p.Leu119Ile missense ADCK2 1 82544 1.21148E-5 41272 0 4.00282E-6
7-140373487-C-T p.Leu119Leu synonymous ADCK2 1 82554 1.21133E-5 41277 0 NA
7-140373488-A-AC p.Tyr121fs frameshift ADCK2 1 82540 1.21153E-5 41270 0 5.20487E-5
7-140373494-C-G p.Leu122Val missense ADCK2 1 82644 1.21001E-5 41322 0 3.19183E-5
7-140373500-C-T p.Pro124Ser missense ADCK2 42 82690 5.07921E-4 41345 0 4.78927E-4
7-140373504-G-A p.Ser125Asn missense ADCK2 3 82690 3.62801E-5 41345 0 NA
7-140373505-C-T p.Ser125Ser synonymous ADCK2 1 82696 1.20925E-5 41348 0 1.60009E-5
7-140373505-C-A p.Ser125Arg missense ADCK2 1 82696 1.20925E-5 41348 0 NA
7-140373520-G-A p.Trp130* stop_gained ADCK2 2 82660 2.41955E-5 41330 0 NA
7-140373530-C-T p.Leu134Phe missense ADCK2 2 82648 2.4199E-5 41324 0 NA
7-140373540-C-T p.Ala137Val missense ADCK2 259 82518 0.00313871 41259 0 0.00209596
7-140373544-C-G p.Thr138Thr synonymous ADCK2 12 82466 1.45515E-4 41233 0 1.27559E-4
7-140373544-C-T p.Thr138Thr synonymous ADCK2 1 82466 1.21262E-5 41233 0 1.19665E-5
7-140373562-C-T p.Thr144Thr synonymous ADCK2 3 82162 3.65132E-5 41081 0 1.65025E-4
7-140373581-T-C p.Trp151Arg missense ADCK2 1 81942 1.22038E-5 40971 0 NA
7-140373599-G-A p.Asp157Asn missense ADCK2 1 81856 1.22166E-5 40928 0 NA
7-140373600-A-T p.Asp157Val missense ADCK2 5 81860 6.10799E-5 40930 0 5.03525E-4
7-140373628-A-G p.Gln166Gln synonymous ADCK2 4 81876 4.88544E-5 40938 0 3.31356E-5
7-140373637-G-A p.Lys169Lys synonymous ADCK2 2 81954 2.44039E-5 40977 0 7.96654E-6
7-140373650-G-T p.Val174Leu missense ADCK2 1 82042 1.21889E-5 41021 0 NA
7-140373659-C-T p.His177Tyr missense ADCK2 2 82164 2.43416E-5 41082 0 3.98613E-6
7-140373674-A-C p.Thr182Pro missense ADCK2 1 82432 1.21312E-5 41216 0 3.32132E-5
7-140373676-T-C p.Thr182Thr synonymous ADCK2 24 82424 2.91177E-4 41212 0 1.67361E-4
7-140373691-G-A p.Arg187Arg synonymous ADCK2 1 82658 1.2098E-5 41329 0 1.1955E-5
7-140373701-G-A p.Gly191Arg missense ADCK2 3 82848 3.62109E-5 41424 0 8.3022E-6
7-140373710-T-TG p.Ser196fs frameshift ADCK2 6 82954 7.23292E-5 41477 0 3.31824E-5
7-140373717-G-T p.Ser196Ile missense ADCK2 1 82968 1.20528E-5 41484 0 3.18451E-5
7-140373721-CCT-C p.Ser199fs frameshift ADCK2 24 83056 2.88962E-4 41528 0 2.10928E-4
7-140373736-C-A p.Asn202Lys missense ADCK2 1 83142 1.20276E-5 41571 0 3.97905E-6
7-140373747-T-C p.Val206Ala missense ADCK2 2 83174 2.4046E-5 41587 0 3.30666E-4
7-140373759-G-C p.Cys210Ser missense ADCK2 3 83186 3.60638E-5 41593 0 1.65213E-5
7-140373768-A-G p.Gln213Arg missense ADCK2 3 83212 3.60525E-5 41606 0 3.18573E-5
7-140373779-G-C p.Ala217Pro missense ADCK2 1 83224 1.20158E-5 41612 0 3.18532E-5
7-140373782-T-C p.Tyr218His missense ADCK2 2 83234 2.40286E-5 41617 0 1.32033E-4
7-140373784-C-T p.Tyr218Tyr synonymous ADCK2 1 83232 1.20146E-5 41616 0 1.65041E-5
7-140373787-C-T p.Ala219Ala synonymous ADCK2 3 83238 3.60412E-5 41619 0 NA
7-140373799-C-T p.Phe223Phe synonymous ADCK2 1 83244 1.20129E-5 41622 0 3.30033E-5
7-140373800-C-T p.Leu224Leu synonymous ADCK2 17 83246 2.04214E-4 41623 0 1.40257E-4
7-140373805-G-T p.Glu225Asp missense ADCK2 1 83242 1.20132E-5 41621 0 NA
7-140373833-G-A p.Ala235Thr missense ADCK2 1 83240 1.20135E-5 41620 0 3.18512E-5
7-140373869-G-A p.Val247Ile missense ADCK2 1 83270 1.20091E-5 41635 0 3.97807E-6
7-140373873-G-A p.Gly248Asp missense ADCK2 28 83274 3.36239E-4 41637 0 9.87639E-4
7-140373879-TGA-T p.Glu252fs frameshift ADCK2 49 83272 5.88433E-4 41636 0 0.00101924
7-140373887-C-G p.Leu253Val missense ADCK2 1 83282 1.20074E-5 41641 0 NA
7-140373899-C-A p.Leu257Ile missense ADCK2 2 83280 2.40154E-5 41640 0 0.00100705
7-140373907-T-C p.Asn259Asn synonymous ADCK2 4 83278 4.80319E-5 41639 0 NA
7-140373911-C-T p.Arg261Trp missense ADCK2 1 83284 1.20071E-5 41642 0 8.25709E-6
7-140373912-G-A p.Arg261Gln missense ADCK2 2 83284 2.40142E-5 41642 0 2.72507E-4
7-140373936-A-G p.Asp269Gly missense ADCK2 1 83294 1.20057E-5 41647 0 8.26405E-6
7-140373942-C-T p.Ser271Leu missense ADCK2 2 83286 2.40136E-5 41643 0 3.98178E-6
7-140373952-A-G p.Glu274Glu synonymous ADCK2 1 83278 1.2008E-5 41639 0 8.26925E-6
7-140373959-C-G p.Leu277Val missense ADCK2 1 83270 1.20091E-5 41635 0 NA
7-140373964-C-T p.Leu278Leu synonymous ADCK2 1 83278 1.2008E-5 41639 0 NA
7-140373968-A-G p.Lys280Glu missense ADCK2 1 83274 1.20085E-5 41637 0 2.48209E-5
7-140373996-G-A p.Gly289Glu missense ADCK2 1 83232 1.20146E-5 41616 0 1.19945E-5
7-140373997-G-T p.Gly289Gly synonymous ADCK2 1 83230 1.20149E-5 41615 0 NA
7-140373997-G-A p.Gly289Gly synonymous ADCK2 1 83230 1.20149E-5 41615 0 NA
7-140373998-G-A p.Val290Met missense ADCK2 2 83226 2.4031E-5 41613 0 NA
7-140374004-C-T p.Arg292Trp missense ADCK2 2 83198 2.4039E-5 41599 0 3.18573E-5
7-140374015-C-T p.Val295Val synonymous ADCK2 1 83134 1.20288E-5 41567 0 NA
7-140374017-C-A p.Pro296His missense ADCK2 1 83118 1.20311E-5 41559 0 NA
7-140374018-T-A p.Pro296Pro synonymous ADCK2 9 83106 1.08295E-4 41553 0 1.27405E-4
7-140374049-T-C p.Ser307Pro missense ADCK2 15399 81554 0.18882 40777 2182 0.26284
7-140374057-A-C p.Ala309Ala synonymous ADCK2 2 82530 2.42336E-5 41265 0 4.07887E-6
7-140374061-AAAGT-A p.Lys311fs frameshift ADCK2 2 82440 2.42601E-5 41220 0 NA
7-140374064-G-C c.933+1G>C splice_donor ADCK2 357 82396 0.00433273 41198 3 0.00414492
7-140374432-G-T p.Ala319Ser missense ADCK2 1 83196 1.20198E-5 41598 0 7.97219E-6
7-140374438-G-A p.Val321Met missense ADCK2 1 83234 1.20143E-5 41617 0 NA
7-140374439-T-G p.Val321Gly missense ADCK2 1 83230 1.20149E-5 41615 0 NA
7-140374450-C-T p.Leu325Leu synonymous ADCK2 4 83268 4.80377E-5 41634 1 3.18613E-5
7-140374459-A-C p.Met328Leu missense ADCK2 1 83266 1.20097E-5 41633 0 8.3167E-6
7-140374460-T-C p.Met328Thr missense ADCK2 1 83270 1.20091E-5 41635 0 NA
7-140374464-G-T p.Lys329Asn missense ADCK2 2 83276 2.40165E-5 41638 1 NA
7-140374473-C-T p.Ser332Ser synonymous ADCK2 2 83284 2.40142E-5 41642 0 8.32473E-6
7-140374474-C-T p.Arg333* stop_gained ADCK2 2 83284 2.40142E-5 41642 0 7.96794E-6
7-140374475-G-C p.Arg333Pro missense ADCK2 2 83282 2.40148E-5 41641 0 8.31988E-6
7-140374477-G-A p.Val334Ile missense ADCK2 1 83286 1.20068E-5 41643 0 NA
7-140374482-G-C p.Leu335Leu synonymous ADCK2 43 83300 5.16206E-4 41650 0 0.00162472
7-140374484-G-A p.Gly336Glu missense ADCK2 1 83304 1.20042E-5 41652 0 NA
7-140374551-C-T p.Val358Val synonymous ADCK2 1 83308 1.20036E-5 41654 0 NA
7-140374554-A-ACAGATTGACCTGCGTTACGAAGCTCAGAATCTAGAACACTTC p.Leu318_Ala319insLeuThrCysValThrLysLeuArgIleTerAsnThrSerSer stop_gained ADCK2 1 83280 1.20077E-5 41640 0 NA
7-140374557-G-GATT c.1080_1080+1insATT splice_donor ADCK2 1 83264 1.201E-5 41632 0 NA
7-140374564-TCTC-T c.1080+8_1080+10delCTC splice_region ADCK2 1 83222 1.20161E-5 41611 0 3.18695E-5
7-140378956-T-C p.Ile361Thr missense+splice_region ADCK2 1 83384 1.19927E-5 41692 0 7.95437E-6
7-140378958-G-C p.Asp362His missense ADCK2 4 83386 4.79697E-5 41693 0 1.65071E-5
7-140378964-C-T p.Arg364Cys missense ADCK2 8 83390 9.59348E-5 41695 0 2.47394E-5
7-140378965-G-A p.Arg364His missense ADCK2 1 83398 1.19907E-5 41699 0 2.47337E-5
7-140378969-C-T p.Tyr365Tyr synonymous ADCK2 7 83396 8.39369E-5 41698 0 1.94868E-4
7-140378970-G-A p.Glu366Lys missense ADCK2 1 83394 1.19913E-5 41697 0 2.78368E-5
7-140378970-G-C p.Glu366Gln missense ADCK2 1 83394 1.19913E-5 41697 0 NA
7-140378974-C-T p.Ala367Val missense ADCK2 1 83398 1.19907E-5 41699 0 6.25E-4
7-140378976-C-CG p.Gln368fs frameshift ADCK2 1 83400 1.19904E-5 41700 0 1.64794E-5
7-140378985-G-A p.Glu371Lys missense ADCK2 1 83410 1.1989E-5 41705 0 1.64766E-5
7-140378988-C-T p.His372Tyr missense ADCK2 1 83408 1.19893E-5 41704 0 NA
7-140378988-C-A p.His372Asn missense ADCK2 2 83408 2.39785E-5 41704 0 4.11909E-5
7-140378989-ACTTCCAGGT-A p.Phe373_Val375del conservative_inframe_deletion ADCK2 1 83412 1.19887E-5 41706 0 NA
7-140378990-C-T p.His372His synonymous ADCK2 1 83416 1.19881E-5 41708 0 NA
7-140379006-C-T p.Arg378Trp missense ADCK2 2 83404 2.39797E-5 41702 0 6.37471E-5
7-140379007-G-A p.Arg378Gln missense ADCK2 3 83400 3.59712E-5 41700 0 3.57887E-5
7-140379018-G-A p.Ala382Thr missense ADCK2 1 83406 1.19895E-5 41703 0 3.97643E-6
7-140379020-C-T p.Ala382Ala synonymous ADCK2 14 83408 1.6785E-4 41704 0 1.27518E-4
7-140379021-G-A p.Val383Ile missense ADCK2 1 83402 1.19901E-5 41701 0 4.77164E-5
7-140379036-C-A p.Pro388Thr missense ADCK2 1 83406 1.19895E-5 41703 0 NA
7-140379041-G-A p.Leu389Leu synonymous ADCK2 1 83402 1.19901E-5 41701 0 2.47121E-5
7-140379042-C-T p.Arg390Cys missense ADCK2 38 83402 4.55625E-4 41701 0 0.00100705
7-140379043-G-A p.Arg390His missense ADCK2 32 83392 3.8373E-4 41696 0 0.0025
7-140379045-C-T p.Pro391Ser missense ADCK2 1 83398 1.19907E-5 41699 0 3.97643E-6
7-140379046-C-T p.Pro391Leu missense ADCK2 11 83400 1.31894E-4 41700 0 5.76635E-5
7-140379047-C-T p.Pro391Pro synonymous ADCK2 1 83398 1.19907E-5 41699 0 NA
7-140379051-G-T p.Val393Phe missense ADCK2 1 83394 1.19913E-5 41697 0 NA
7-140379063-G-A p.Val397Ile missense ADCK2 1 83388 1.19921E-5 41694 0 NA
7-140379077-G-A p.Thr401Thr synonymous ADCK2 14 83362 1.67942E-4 41681 0 6.25E-4
7-140379083-A-T p.Glu403Asp missense+splice_region ADCK2 1 83350 1.19976E-5 41675 0 3.97829E-6
7-140380835-T-C c.1210-7T>C splice_region ADCK2 1 83186 1.20213E-5 41593 0 NA
7-140380856-G-A p.Val408Val synonymous ADCK2 56 83278 6.72447E-4 41639 0 0.00156071
7-140380882-C-T p.Pro417Leu missense ADCK2 1 83310 1.20034E-5 41655 0 NA
7-140380883-C-T p.Pro417Pro synonymous ADCK2 160 83304 0.00192068 41652 0 0.00186505
7-140380884-G-T p.Val418Leu missense ADCK2 489 83322 0.0058688 41661 7 0.0120793
7-140380884-G-A p.Val418Met missense ADCK2 16 83326 1.92017E-4 41663 0 6.59446E-5
7-140380897-G-C p.Arg422Thr missense ADCK2 1 83318 1.20022E-5 41659 0 NA
7-140380900-A-C p.Lys423Thr missense ADCK2 2 83312 2.40061E-5 41656 0 1.64908E-5
7-140380908-C-T p.Arg426Trp missense ADCK2 2 83268 2.40188E-5 41634 0 2.38614E-5
7-140380908-C-A p.Arg426Arg synonymous ADCK2 1 83268 1.20094E-5 41634 0 NA
7-140380916-G-A p.Gly428Gly synonymous ADCK2 1 83212 1.20175E-5 41606 0 9.90164E-5
7-140380927-T-C p.Leu432Pro missense ADCK2 1 83058 1.20398E-5 41529 0 NA
7-140380937-G-GATATTT c.1305_1305+1insATATTT splice_donor ADCK2 1 82990 1.20496E-5 41495 0 NA
7-140380945-C-G c.1305+8C>G splice_region ADCK2 1 82850 1.207E-5 41425 0 NA
7-140386789-G-T c.1306-1G>T splice_acceptor ADCK2 3 81476 3.68207E-5 40738 0 NA
7-140386817-G-A p.Asp445Asn missense ADCK2 1 81630 1.22504E-5 40815 0 NA
7-140386825-C-A p.His447Gln missense ADCK2 2 81742 2.44672E-5 40871 0 8.24008E-6
7-140386839-T-A p.Leu452Gln missense ADCK2 2 82030 2.43813E-5 41015 0 4.00429E-6
7-140386855-C-T p.Asn457Asn synonymous ADCK2 4 82298 4.86039E-5 41149 0 3.18471E-5
7-140386856-G-A p.Gly458Ser missense ADCK2 3 82320 3.64431E-5 41160 0 3.18471E-5
7-140386866-C-T p.Ser461Leu missense ADCK2 4 82334 4.85826E-5 41167 0 1.73256E-4
7-140386867-G-A p.Ser461Ser synonymous ADCK2 1 82304 1.21501E-5 41152 0 1.6503E-5
7-140386878-C-T p.Ala465Val missense ADCK2 1 82320 1.21477E-5 41160 0 5.03525E-4
7-140386882-G-T p.Gln466His missense ADCK2 1 82326 1.21468E-5 41163 0 NA
7-140386884-T-A p.Leu467Gln missense ADCK2 1 82340 1.21448E-5 41170 0 NA
7-140386884-T-C p.Leu467Pro missense ADCK2 1 82340 1.21448E-5 41170 0 3.99703E-6
7-140386889-C-T p.Gln469* stop_gained ADCK2 2 82338 2.42901E-5 41169 0 1.65546E-4
7-140386893-C-T p.Ala470Val missense ADCK2 2 82184 2.43356E-5 41092 0 3.1841E-5
7-140386912-G-C p.Leu476Leu synonymous ADCK2 9 82074 1.09657E-4 41037 0 6.25E-4
7-140386913-G-T p.Val477Leu missense ADCK2 2 82034 2.43801E-5 41017 0 9.55171E-5
7-140386917-T-C p.Val478Ala missense ADCK2 12 81826 1.46653E-4 40913 0 0.0020141
7-140386920-C-T p.Ala479Val missense ADCK2 2 81670 2.44888E-5 40835 0 NA
7-140386922-G-A p.Val480Met missense ADCK2 16 81596 1.96088E-4 40798 0 1.32313E-4
7-140386925-C-G p.Pro481Ala missense ADCK2 5 81490 6.13572E-5 40745 0 4.4109E-5
7-140386928-T-C p.Ser482Pro missense ADCK2 3 81412 3.68496E-5 40706 0 8.02208E-6
7-140386932-C-T p.Ser483Phe missense ADCK2 28 81264 3.44556E-4 40632 0 6.68918E-4
7-140386934-C-A p.Leu484Ile missense ADCK2 1 81202 1.2315E-5 40601 0 3.18573E-5
7-140386941-C-T p.Pro486Leu missense ADCK2 1 80684 1.2394E-5 40342 0 6.25E-4
7-140386942-G-A p.Pro486Pro synonymous ADCK2 2 80450 2.48602E-5 40225 0 3.2432E-5
7-140386946-C-T p.Arg488* stop_gained ADCK2 2 80030 2.49906E-5 40015 0 2.10509E-5
7-140386954-G-A p.Val490Val synonymous ADCK2 3 79350 3.78072E-5 39675 0 NA
7-140386967-G-A p.Gly495Ser missense ADCK2 1 78054 1.28116E-5 39027 0 2.73426E-5
7-140386977-C-T p.Ala498Val missense ADCK2 3 76192 3.93742E-5 38096 0 0.00100908
7-140387004-A-T p.Asn507Ile missense ADCK2 10 69480 1.43926E-4 34740 0 0.00147228
7-140387009-C-CG p.Ala510fs frameshift ADCK2 1 67596 1.47938E-5 33798 0 NA
7-140387009-C-T p.Arg509Trp missense ADCK2 1 67596 1.47938E-5 33798 0 5.27593E-6
7-140387010-G-A p.Arg509Gln missense ADCK2 1 67214 1.48779E-5 33607 0 6.37186E-5
7-140387020-C-T p.Phe512Phe synonymous ADCK2 2 64532 3.09924E-5 32266 0 NA
7-140387041-G-GGGCCAGAGA c.1557_1557+1insGGCCAGAGA splice_donor ADCK2 3 58144 5.1596E-5 29072 1 NA
7-140389398-G-A p.Gly520Asp missense+splice_region ADCK2 6 83112 7.21917E-5 41556 0 4.24809E-5
7-140389402-G-C p.Gln521His missense ADCK2 1 83130 1.20294E-5 41565 0 3.18532E-5
7-140389417-G-A p.Leu526Leu synonymous ADCK2 4 83246 4.80504E-5 41623 0 1.21072E-5
7-140389423-G-A p.Leu528Leu synonymous ADCK2 1 83258 1.20109E-5 41629 0 3.18735E-5
7-140389428-A-G p.His530Arg missense ADCK2 1 83268 1.20094E-5 41634 0 4.01568E-6
7-140389434-G-A p.Arg532Gln missense ADCK2 3 83240 3.60404E-5 41620 0 0.00178537
7-140389436-G-A p.Ala533Thr missense ADCK2 3 83252 3.60352E-5 41626 0 8.00083E-6
7-140389441-C-T p.Ser534Ser synonymous ADCK2 1 83230 1.20149E-5 41615 0 8.28034E-6
7-140389442-G-A p.Glu535Lys missense ADCK2 3 83218 3.60499E-5 41609 0 5.03525E-4
7-140389453-C-T p.Asp538Asp synonymous ADCK2 11 83198 1.32215E-4 41599 0 4.14435E-4
7-140389454-G-A p.Val539Met missense ADCK2 8 83190 9.61654E-5 41595 0 1.59297E-4
7-140389456-G-A p.Val539Val synonymous ADCK2 2 83198 2.4039E-5 41599 0 1.65494E-5
7-140389459-G-C p.Glu540Asp missense ADCK2 1 83182 1.20218E-5 41591 0 3.18634E-5
7-140389461-G-C p.Gly541Ala missense ADCK2 1 83158 1.20253E-5 41579 0 NA
7-140389469-A-T p.Thr544Ser missense ADCK2 1 83150 1.20265E-5 41575 0 NA
7-140389471-C-A p.Thr544Thr synonymous ADCK2 2 83100 2.40674E-5 41550 0 NA
7-140389472-G-A p.Glu545Lys missense ADCK2 1 83118 1.20311E-5 41559 0 3.18715E-5
7-140389483-G-A p.Met548Ile missense ADCK2 2 83050 2.40819E-5 41525 0 NA
7-140389493-C-G p.Gln552Glu missense ADCK2 2 82960 2.4108E-5 41480 0 6.25E-4
7-140389497-C-T p.Ala553Val missense ADCK2 1 82900 1.20627E-5 41450 0 NA
7-140389501-G-A p.Arg554Arg synonymous ADCK2 16 82888 1.93032E-4 41444 0 4.71484E-4
7-140389509-C-T p.Thr557Ile missense ADCK2 1 82790 1.20788E-5 41395 0 3.18593E-5
7-140389515-C-T p.Thr559Ile missense ADCK2 2 82710 2.41809E-5 41355 0 1.60715E-5
7-140389524-A-T p.Lys562Met missense+splice_region ADCK2 2 82614 2.4209E-5 41307 0 5.04032E-4
7-140390552-T-G c.1687-8T>G splice_region ADCK2 1 82754 1.2084E-5 41377 0 3.97994E-6
7-140390558-A-G c.1687-2A>G splice_acceptor ADCK2 2 82852 2.41394E-5 41426 0 NA
7-140390564-A-G p.His564Arg missense ADCK2 1 82906 1.20619E-5 41453 0 NA
7-140390574-C-T p.Ser567Ser synonymous ADCK2 1 82976 1.20517E-5 41488 0 3.19428E-5
7-140390574-C-G p.Ser567Arg missense ADCK2 7 82976 8.43617E-5 41488 0 9.06379E-5
7-140390583-T-C p.Ser570Ser synonymous ADCK2 2 83004 2.40952E-5 41502 0 NA
7-140390592-T-C p.Phe573Phe synonymous ADCK2 9 82968 1.08476E-4 41484 0 2.47174E-5
7-140390598-G-A p.Leu575Leu synonymous ADCK2 2 83042 2.40842E-5 41521 0 6.37633E-5
7-140390607-T-A p.Thr578Thr synonymous ADCK2 2 82910 2.41225E-5 41455 0 8.23995E-6
7-140390620-G-A c.1740+7G>A splice_region ADCK2 4 82872 4.82672E-5 41436 0 2.23086E-4
7-140394459-C-T c.1741-4C>T splice_region ADCK2 153 83162 0.00183978 41581 1 0.00404433
7-140394469-C-A p.Leu583Ile missense ADCK2 1 83246 1.20126E-5 41623 0 NA
7-140394487-T-G p.Ser589Ala missense ADCK2 3 83316 3.60075E-5 41658 0 6.37186E-5
7-140394502-A-G p.Ile594Val missense ADCK2 1 83372 1.19944E-5 41686 0 NA
7-140394526-C-T p.Arg602Cys missense ADCK2 5 83382 5.9965E-5 41691 0 5.03525E-4
7-140394527-G-C p.Arg602Pro missense ADCK2 1 83380 1.19933E-5 41690 0 0.0018476
7-140394527-G-A p.Arg602His missense ADCK2 2 83382 2.3986E-5 41691 0 6.25E-4
7-140394539-C-T p.Pro606Leu missense ADCK2 3 83378 3.59807E-5 41689 0 6.76434E-5
7-140394547-G-A p.Asp609Asn missense ADCK2 10 83378 1.19936E-4 41689 0 8.9172E-4
7-140394557-A-G p.Glu612Gly missense ADCK2 1 83374 1.19941E-5 41687 0 8.24416E-6
7-140394558-G-A p.Glu612Glu synonymous ADCK2 212 83366 0.002543 41683 3 0.005625
7-140394563-C-T p.Ala614Val missense ADCK2 137 83346 0.00164375 41673 3 0.00251762
7-140394579-C-T p.Leu619Leu synonymous ADCK2 3 83336 3.59988E-5 41668 0 8.25982E-5
7-140394581-C-T p.Thr620Met missense ADCK2 1 83332 1.20002E-5 41666 0 NA
7-140394584-G-C p.Gly621Ala missense ADCK2 1 83326 1.20011E-5 41663 0 NA
7-140394587-C-T p.Pro622Leu missense ADCK2 8331 83180 0.100156 41590 527 0.147533
7-140394588-A-T p.Pro622Pro synonymous ADCK2 24 83326 2.88025E-4 41663 0 5.83379E-4
7-140394589-G-A p.Val623Met missense ADCK2 2 83314 2.40056E-5 41657 0 NA
7-140394593-G-GC p.Ter627fs frameshift ADCK2 1 83294 1.20057E-5 41647 0 1.66107E-5
7-140394593-GC-G p.Pro626fs frameshift ADCK2 5 83312 6.00154E-5 41656 0 2.40589E-5
7-140394595-C-A p.Pro625Thr missense ADCK2 5 83314 6.00139E-5 41657 0 2.0041E-5
7-140394599-C-T p.Pro626Leu missense ADCK2 119 83292 0.00142871 41646 1 0.00876095
7-140394599-C-A p.Pro626Gln missense ADCK2 2 83298 2.40102E-5 41649 0 3.33084E-5
7-140394600-G-A p.Pro626Pro synonymous ADCK2 5 83294 6.00283E-5 41647 0 1.91034E-4
7-140394601-T-G p.Ter627Glyext*? stop_lost ADCK2 5 83290 6.00312E-5 41645 0 2.00669E-5
7-140394920-C-T c.*317C>T splice_region ADCK2 3 32122 9.33939E-5 16061 0 NA
7-140395554-CT-C c.1741-3delT splice_region ADCK2 1850 66194 0.0279482 33097 0 0.335525
7-140395554-C-CT c.1741-3dupT splice_acceptor ADCK2 2887 73004 0.0395458 36502 13 0.161495
7-140395554-C-CTT c.1741-4_1741-3dupTT splice_acceptor ADCK2 56 76818 7.28996E-4 38409 0 0.00724223
7-140395554-CTT-C c.1741-4_1741-3delTT splice_region ADCK2 157 76430 0.00205417 38215 0 0.0235373
7-140395554-CTTT-C c.1741-5_1741-3delTTT splice_region ADCK2 16 76846 2.08209E-4 38423 0 0.0013341
7-140395554-CTTTT-C c.1741-6_1741-3delTTTT splice_region ADCK2 4 76912 5.20075E-5 38456 0 NA
7-140395554-C-CTTT c.1741-5_1741-3dupTTT splice_acceptor ADCK2 3 76924 3.89995E-5 38462 0 7.6234E-4
7-140395554-C-CTTTTT c.1741-7_1741-3dupTTTTT splice_acceptor ADCK2 1 76928 1.29992E-5 38464 0 NA
7-140395570-A-G c.1741-2A>G splice_acceptor ADCK2 2 77028 2.59646E-5 38514 0 5.3563E-5
7-140395570-A-T c.1741-2A>T splice_acceptor ADCK2 3 76992 3.89651E-5 38496 0 0.00625
7-140395578-TCA-T p.Gln584fs frameshift ADCK2 1 78874 1.26784E-5 39437 0 1.36649E-4
7-140395580-A-G p.Ser583Ser synonymous ADCK2 2 79134 2.52736E-5 39567 0 3.36836E-5
7-140395594-C-T p.Ala588Val missense ADCK2 2 79852 2.50463E-5 39926 0 7.18628E-6
7-140395598-TTCA-T p.Ser590del disruptive_inframe_deletion ADCK2 1 80018 1.24972E-5 40009 0 NA
7-140395602-T-C p.Ter591Glnext*? stop_lost ADCK2 2 79980 2.50063E-5 39990 0 1.37859E-4
7-140395829-C-G p.Val418Val splice_region+synonymous ADCK2 15 63856 2.34904E-4 31928 0 2.88332E-4
7-140395850-G-C p.Gln425His missense ADCK2 1 61392 1.62888E-5 30696 0 3.19489E-5
7-140395871-C-A p.Gly432Gly synonymous ADCK2 1 59634 1.6769E-5 29817 0 NA
7-140395872-T-C p.Ser433Pro missense ADCK2 1 59594 1.67802E-5 29797 0 NA
7-140395875-A-G p.Arg434Gly missense ADCK2 1 59404 1.68339E-5 29702 0 7.14663E-6
7-140395894-C-A p.Thr440Lys missense ADCK2 1 58386 1.71274E-5 29193 0 NA
7-140395904-T-G p.Gly443Gly synonymous ADCK2 1 57920 1.72652E-5 28960 0 NA
7-140395916-T-C p.Pro447Pro synonymous ADCK2 2 57230 3.49467E-5 28615 0 NA
7-140395926-G-A p.Ala451Thr missense ADCK2 1 56880 1.75809E-5 28440 0 NA
7-140395929-C-A p.His452Asn missense ADCK2 1 56834 1.75951E-5 28417 0 7.1145E-5
7-140395931-T-C p.His452His synonymous ADCK2 2 56792 3.52162E-5 28396 0 0.0014427
7-140395932-C-A p.Gln453Lys missense ADCK2 1 56796 1.76069E-5 28398 0 NA
7-140395944-G-A p.Gly457Arg missense ADCK2 2 56668 3.52933E-5 28334 0 7.11592E-6
7-140395947-G-A p.Gly458Ser missense ADCK2 1 56644 1.76541E-5 28322 0 NA
7-140395969-G-T p.Arg465Leu missense ADCK2 1 56452 1.77142E-5 28226 0 3.567E-5
7-140395970-G-C p.Arg465Arg synonymous ADCK2 1 56446 1.7716E-5 28223 0 9.57732E-5
7-140395973-G-A p.Gln466Gln synonymous ADCK2 2 56432 3.54409E-5 28216 0 NA
7-140396054-GTACGAAC-G c.*71_*77delACGAACT splice_region ADCK2 2 54848 3.64644E-5 27424 0 NA
7-140396061-C-T c.*76C>T splice_region ADCK2 1 53930 1.85426E-5 26965 0 NA