Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-85359966-G-A c.-112G>A 5_prime_UTR_premature_start_codon_gain ALPK3 1 63848 1.56622E-5 31924 0 1.27462E-4
15-85359973-A-G c.-105A>G 5_prime_UTR_premature_start_codon_gain ALPK3 1 67768 1.47562E-5 33884 0 NA
15-85360004-A-T c.-74A>T 5_prime_UTR_premature_start_codon_gain ALPK3 1 76268 1.31117E-5 38134 0 NA
15-85360018-T-C c.-60T>C 5_prime_UTR_premature_start_codon_gain ALPK3 1 77760 1.28601E-5 38880 0 3.18817E-5
15-85360086-G-A p.Val3Val synonymous ALPK3 37 80432 4.60016E-4 40216 0 0.00108342
15-85360088-C-T p.Ala4Val missense ALPK3 2 80418 2.48701E-5 40209 0 NA
15-85360101-T-C p.Tyr8Tyr synonymous ALPK3 59702 73994 0.806849 36997 24073 0.848403
15-85360113-A-G p.Gln12Gln synonymous ALPK3 1 80218 1.2466E-5 40109 0 NA
15-85360121-T-TGGCGA p.Gln18fs frameshift ALPK3 1 80256 1.24601E-5 40128 0 NA
15-85360148-G-A p.Arg24Gln missense ALPK3 4 80048 4.997E-5 40024 0 3.18695E-5
15-85360148-G-C p.Arg24Pro missense ALPK3 3 80048 3.74775E-5 40024 0 0.00125
15-85360152-G-A p.Leu25Leu synonymous ALPK3 2 80050 2.49844E-5 40025 0 6.37552E-5
15-85360156-C-T p.Pro27Ser missense ALPK3 2 79682 2.50998E-5 39841 0 8.52908E-6
15-85360180-C-T p.Leu35Phe missense ALPK3 1 79956 1.25069E-5 39978 0 3.19081E-5
15-85360182-C-T p.Leu35Leu synonymous ALPK3 1 80010 1.24984E-5 40005 0 3.42483E-5
15-85360189-C-A p.Leu38Ile missense ALPK3 1 80058 1.24909E-5 40029 0 4.04106E-6
15-85360203-C-G p.Ser42Arg missense ALPK3 2 80118 2.49632E-5 40059 0 8.66641E-6
15-85360204-C-T p.Pro43Ser missense ALPK3 1 80116 1.24819E-5 40058 0 8.67438E-6
15-85360213-C-G p.Pro46Ala missense ALPK3 1 80054 1.24916E-5 40027 0 NA
15-85360217-C-A p.Ala47Glu missense ALPK3 1 79954 1.25072E-5 39977 0 8.095E-6
15-85360218-G-A p.Ala47Ala synonymous ALPK3 2 79982 2.50056E-5 39991 0 8.09507E-6
15-85360223-A-T p.Asp49Val missense ALPK3 2 79948 2.50163E-5 39974 0 8.82285E-6
15-85360231-C-T p.Pro52Ser missense ALPK3 13 80054 1.6239E-4 40027 0 1.59551E-4
15-85360241-C-T p.Pro55Leu missense ALPK3 1 80110 1.24828E-5 40055 0 6.38692E-5
15-85360248-G-C p.Arg57Ser missense ALPK3 1 80144 1.24775E-5 40072 0 NA
15-85360252-C-G p.Arg59Gly missense ALPK3 214 80338 0.00266375 40169 1 0.00431117
15-85360253-G-T p.Arg59Leu missense ALPK3 2 80284 2.49116E-5 40142 0 2.82045E-5
15-85360254-T-G p.Arg59Arg synonymous ALPK3 2 80344 2.4893E-5 40172 0 9.4288E-6
15-85360256-G-A p.Gly60Glu missense ALPK3 1 80330 1.24486E-5 40165 0 NA
15-85360260-C-A p.Pro61Pro synonymous ALPK3 1 80420 1.24347E-5 40210 0 1.22829E-5
15-85360269-C-A p.Cys64* stop_gained ALPK3 60 80414 7.46139E-4 40207 1 0.00375
15-85360271-A-G p.His65Arg missense ALPK3 1827 80312 0.0227488 40156 38 0.0338042
15-85360275-G-A p.Thr66Thr synonymous ALPK3 1 80418 1.2435E-5 40209 0 1.10852E-5
15-85360295-G-A p.Arg73Gln missense ALPK3 3 79804 3.75921E-5 39902 0 4.61198E-5
15-85360300-C-T p.Pro75Ser missense ALPK3 1 79640 1.25565E-5 39820 0 4.0866E-5
15-85360303-G-A p.Gly76Ser missense ALPK3 7 79740 8.77853E-5 39870 0 1.17277E-4
15-85360319-C-T p.Thr81Met missense ALPK3 96 79286 0.00121081 39643 0 0.00441919
15-85360320-G-T p.Thr81Thr synonymous ALPK3 3 79262 3.78492E-5 39631 0 NA
15-85360321-A-G p.Lys82Glu missense ALPK3 2 79220 2.52462E-5 39610 0 NA
15-85360334-T-G p.Leu86Arg missense ALPK3 1 78484 1.27415E-5 39242 0 2.29127E-5
15-85360338-T-G p.His87Gln missense ALPK3 1 78226 1.27835E-5 39113 0 NA
15-85360340-A-G p.Asp88Gly missense ALPK3 3 77940 3.84911E-5 38970 0 NA
15-85360342-C-G p.Gln89Glu missense ALPK3 1 77906 1.2836E-5 38953 0 NA
15-85360343-A-G p.Gln89Arg missense ALPK3 1 77772 1.28581E-5 38886 0 1.03518E-5
15-85360352-G-T p.Arg92Leu missense ALPK3 1 76522 1.30681E-5 38261 0 3.10636E-5
15-85360361-T-TCCTCCCGAGG p.Gly101fs frameshift ALPK3 1 75192 1.32993E-5 37596 0 NA
15-85360369-A-C p.Arg98Arg synonymous ALPK3 3 73886 4.06031E-5 36943 0 6.38855E-5
15-85360371-G-A p.Arg98Arg synonymous ALPK3 2 73248 2.73045E-5 36624 0 9.58711E-5
15-85360376-C-T p.Pro100Leu missense ALPK3 1 72672 1.37605E-5 36336 0 6.48752E-6
15-85360377-C-G p.Pro100Pro synonymous ALPK3 2 72318 2.76556E-5 36159 0 0.00128205
15-85360377-C-CGGGA p.Pro102fs frameshift ALPK3 4 72318 5.53113E-5 36159 0 NA
15-85360377-C-T p.Pro100Pro synonymous ALPK3 1 72318 1.38278E-5 36159 0 NA
15-85360378-G-A p.Gly101Arg missense ALPK3 6 72128 8.31854E-5 36064 0 0.00154004
15-85360379-G-A p.Gly101Glu missense ALPK3 1 71866 1.39148E-5 35933 0 5.95735E-5
15-85360391-C-T p.Thr105Met missense ALPK3 1 69638 1.436E-5 34819 0 3.19428E-5
15-85360396-C-T p.Arg107Cys missense ALPK3 1 68000 1.47059E-5 34000 0 NA
15-85360402-T-C p.Cys109Arg missense ALPK3 2 66718 2.99769E-5 33359 0 2.20946E-4
15-85360442-G-A p.Gly122Asp missense ALPK3 3 56840 5.27797E-5 28420 0 1.17908E-5
15-85360445-C-T p.Pro123Leu missense ALPK3 1 56754 1.76199E-5 28377 0 3.19468E-5
15-85360447-G-A p.Gly124Arg missense ALPK3 1 56294 1.77639E-5 28147 0 NA
15-85360447-G-T p.Gly124Trp missense ALPK3 2 56294 3.55278E-5 28147 0 3.19305E-5
15-85360451-C-T p.Ala125Val missense ALPK3 2 54918 3.64179E-5 27459 0 1.27894E-4
15-85360469-CG-C p.Gly134fs frameshift ALPK3 1 51226 1.95213E-5 25613 0 NA
15-85360470-G-GC p.Gly134fs frameshift ALPK3 1 50908 1.96433E-5 25454 0 0.00121359
15-85360471-C-A p.Pro132Thr missense ALPK3 1 51156 1.9548E-5 25578 0 NA
15-85360475-C-T p.Pro133Leu missense ALPK3 1 50918 1.96394E-5 25459 0 NA
15-85360477-G-C p.Gly134Arg missense ALPK3 2 50172 3.98629E-5 25086 0 NA
15-85360499-C-G p.Pro141Arg missense ALPK3 2 46576 4.29406E-5 23288 0 NA
15-85360500-G-C p.Pro141Pro synonymous ALPK3 2 46636 4.28853E-5 23318 0 NA
15-85360505-G-GGGCCA p.Glu148fs frameshift ALPK3 108 45718 0.00236231 22859 0 0.005472
15-85360510-A-C p.Arg145Arg synonymous ALPK3 1 44990 2.22272E-5 22495 0 NA
15-85360516-G-A p.Gly147Arg missense ALPK3 2 43832 4.56288E-5 21916 0 NA
15-85360516-G-C p.Gly147Arg missense ALPK3 1 43832 2.28144E-5 21916 0 NA
15-85360517-G-A p.Gly147Glu missense ALPK3 4 43696 9.15416E-5 21848 0 5.5212E-5
15-85360564-A-G p.Arg163Gly missense ALPK3 6 34556 1.73631E-4 17278 0 3.26712E-5
15-85360569-C-A p.Gly164Gly synonymous ALPK3 1 33004 3.02994E-5 16502 0 NA
15-85360584-G-A p.Arg169Arg synonymous ALPK3 1 31902 3.1346E-5 15951 0 NA
15-85360590-A-AGCG p.Ala175dup disruptive_inframe_insertion ALPK3 1 31608 3.16376E-5 15804 0 3.3418E-5
15-85360601-C-G p.Ala175Gly missense ALPK3 1 31092 3.21626E-5 15546 0 NA
15-85360608-G-C p.Arg177Ser missense ALPK3 1 31084 3.21709E-5 15542 0 NA
15-85360610-G-T p.Gly178Val missense ALPK3 1 31010 3.22477E-5 15505 0 NA
15-85360613-CG-C p.Ala181fs frameshift ALPK3 4 30900 1.2945E-4 15450 0 2.02075E-4
15-85360621-G-C p.Gly182Arg missense ALPK3 2 30854 6.48214E-5 15427 0 1.00685E-4
15-85360636-G-A p.Gly187Ser missense ALPK3 2 31032 6.44496E-5 15516 0 NA
15-85360638-C-A p.Gly187Gly synonymous ALPK3 2 30936 6.46496E-5 15468 0 NA
15-85360641-G-A p.Glu188Glu synonymous ALPK3 34 31106 0.00109304 15553 0 1.34192E-4
15-85360647-G-C p.Ala190Ala synonymous ALPK3 1 30990 3.22685E-5 15495 0 NA
15-85360662-G-A p.Pro195Pro synonymous ALPK3 1 31362 3.18857E-5 15681 0 NA
15-85360670-G-A p.Gly198Glu missense ALPK3 1 31782 3.14644E-5 15891 0 3.35728E-5
15-85360671-G-C p.Gly198Gly synonymous ALPK3 1 31788 3.14584E-5 15894 0 NA
15-85360707-C-T p.Ser210Ser synonymous ALPK3 1 36312 2.75391E-5 18156 0 3.34381E-5
15-85360719-C-A p.Gly214Gly synonymous ALPK3 2 37294 5.36279E-5 18647 0 2.03832E-5
15-85360719-C-T p.Gly214Gly synonymous ALPK3 2 37294 5.36279E-5 18647 0 NA
15-85360723-G-T p.Gly216Cys missense ALPK3 1 37738 2.64985E-5 18869 0 3.27654E-5
15-85360744-G-A p.Gly223Ser missense ALPK3 1 38870 2.57268E-5 19435 0 2.56766E-5
15-85360745-G-T p.Gly223Val missense ALPK3 4 38884 1.0287E-4 19442 0 7.68896E-5
15-85360754-A-G p.Glu226Gly missense ALPK3 1 39230 2.54907E-5 19615 0 NA
15-85360759-G-A p.Asp228Asn missense ALPK3 1 39384 2.5391E-5 19692 0 NA
15-85360763-G-A p.Gly229Asp missense ALPK3 5 39604 1.2625E-4 19802 0 8.73052E-4
15-85360765-C-T p.Pro230Ser missense ALPK3 1 39650 2.52207E-5 19825 0 NA
15-85360776-C-T p.Ile233Ile synonymous ALPK3 2 40112 4.98604E-5 20056 0 1.25665E-4
15-85360781-G-A p.Ser235Asn missense ALPK3 1 40254 2.48423E-5 20127 0 9.90099E-4
15-85360787-C-T p.Ala237Val missense ALPK3 121 40408 0.00299446 20204 2 0.00948675
15-85360792-C-T p.Arg239Trp missense ALPK3 2 40518 4.93608E-5 20259 0 2.0819E-5
15-85360793-G-A p.Arg239Gln missense ALPK3 1 40614 2.46221E-5 20307 0 NA
15-85360806-C-T p.Leu243Leu synonymous ALPK3 47 40654 0.0011561 20327 0 0.00330382
15-85360809-C-G p.Ser244Arg missense ALPK3 1 40578 2.46439E-5 20289 0 NA
15-85360815-G-T p.Arg246Arg synonymous ALPK3 1 40554 2.46585E-5 20277 0 2.10877E-5
15-85360818-C-G p.Pro247Pro synonymous ALPK3 1 40544 2.46646E-5 20272 0 9.62958E-5
15-85360818-C-T p.Pro247Pro synonymous ALPK3 16 40542 3.94652E-4 20271 0 6.23534E-4
15-85366556-C-T c.750-5C>T splice_region ALPK3 1 83092 1.20349E-5 41546 0 NA
15-85366563-TA-T p.Leu251fs frameshift ALPK3 1 83144 1.20273E-5 41572 0 NA
15-85366567-A-G p.Ser252Ser synonymous ALPK3 22 83138 2.6462E-4 41569 0 3.06217E-4
15-85366570-C-G p.Ser253Arg missense ALPK3 2 83166 2.40483E-5 41583 0 NA
15-85366574-C-T p.Arg255Trp missense ALPK3 1 83158 1.20253E-5 41579 0 8.2375E-6
15-85366575-G-A p.Arg255Gln missense ALPK3 181 83166 0.00217637 41583 0 0.00417966
15-85366585-C-T p.His258His synonymous ALPK3 13 83180 1.56288E-4 41590 0 6.36902E-5
15-85366592-T-C p.Ser261Pro missense ALPK3 13 83174 1.56299E-4 41587 0 1.8292E-4
15-85366594-T-A p.Ser261Ser synonymous ALPK3 1 83170 1.20236E-5 41585 0 NA
15-85370708-C-T c.789-7C>T splice_region ALPK3 2 83128 2.40593E-5 41564 0 2.14256E-4
15-85370710-C-T c.789-5C>T splice_region ALPK3 13 83134 1.56374E-4 41567 0 1.27429E-4
15-85370735-T-C p.Ile270Thr missense ALPK3 1 83206 1.20184E-5 41603 0 1.64785E-5
15-85370738-C-T p.Ala271Val missense ALPK3 1 83192 1.20204E-5 41596 0 NA
15-85370747-C-T p.Thr274Ile missense ALPK3 1 83188 1.2021E-5 41594 0 8.23927E-6
15-85370748-AGAG-A p.Glu276del conservative_inframe_deletion ALPK3 3 83192 3.60612E-5 41596 0 NA
15-85370753-A-C p.Glu276Ala missense ALPK3 10 83196 1.20198E-4 41598 0 1.98866E-5
15-85370763-G-A p.Pro279Pro synonymous ALPK3 2 83220 2.40327E-5 41610 0 3.18431E-5
15-85370773-A-G p.Thr283Ala missense ALPK3 1 83216 1.20169E-5 41608 0 6.59315E-5
15-85370774-C-T p.Thr283Ile missense ALPK3 1 83212 1.20175E-5 41606 0 8.24144E-6
15-85370774-C-A p.Thr283Asn missense ALPK3 3 83212 3.60525E-5 41606 1 NA
15-85370777-C-T p.Thr284Met missense ALPK3 8 83216 9.61354E-5 41608 0 0.00125
15-85370777-C-A p.Thr284Lys missense ALPK3 2 83216 2.40338E-5 41608 0 NA
15-85370778-G-A p.Thr284Thr synonymous ALPK3 1 83218 1.20166E-5 41609 0 1.19326E-5
15-85370781-C-G p.Leu285Leu synonymous ALPK3 2 83212 2.4035E-5 41606 0 NA
15-85370788-C-T p.Arg288Trp missense ALPK3 1 83184 1.20215E-5 41592 0 4.37581E-5
15-85370799-C-T p.Ser291Ser synonymous ALPK3 1 83142 1.20276E-5 41571 0 0.00100806
15-85370808-C-T p.Ser294Ser synonymous ALPK3 2 83100 2.40674E-5 41550 0 1.19376E-5
15-85370809-G-A p.Asp295Asn missense ALPK3 2 83088 2.40709E-5 41544 0 3.97871E-6
15-85370811-C-T p.Asp295Asp synonymous ALPK3 1 83068 1.20383E-5 41534 0 1.23924E-4
15-85370829-C-A p.Ile301Ile synonymous ALPK3 8 82926 9.64716E-5 41463 0 1.15867E-4
15-85370830-G-A p.Val302Ile missense ALPK3 8 82888 9.65158E-5 41444 0 0.00100908
15-85370833-A-G p.Thr303Ala missense ALPK3 6 82816 7.24498E-5 41408 0 9.55171E-5
15-85382205-T-C c.911-6T>C splice_region ALPK3 1 81784 1.22273E-5 40892 0 NA
15-85382226-A-G p.Glu309Gly missense ALPK3 1 82268 1.21554E-5 41134 0 NA
15-85382228-G-A p.Val310Met missense ALPK3 14 82296 1.70118E-4 41148 0 0.00125
15-85382232-C-A p.Thr311Asn missense ALPK3 1 82344 1.21442E-5 41172 0 3.18451E-5
15-85382234-T-A p.Trp312Arg missense ALPK3 1 82346 1.21439E-5 41173 0 NA
15-85382240-A-G p.Lys314Glu missense ALPK3 2 82418 2.42665E-5 41209 0 3.99339E-6
15-85382250-C-T p.Thr317Met missense ALPK3 1 82346 1.21439E-5 41173 0 5.59458E-5
15-85382258-G-A p.Asp320Asn missense ALPK3 2 82310 2.42984E-5 41155 0 NA
15-85382261-C-T p.Arg321Cys missense ALPK3 1 82346 1.21439E-5 41173 0 1.60126E-5
15-85382268-G-C p.Cys323Ser missense ALPK3 2 82320 2.42954E-5 41160 0 8.03264E-6
15-85382271-G-A p.Gly324Asp missense ALPK3 2 82236 2.43202E-5 41118 0 NA
15-85382286-A-G p.Glu329Gly missense ALPK3 1 81788 1.22267E-5 40894 0 NA
15-85382287-G-T p.Glu329Asp missense ALPK3 1 81758 1.22312E-5 40879 0 NA
15-85382300-G-C p.Gly334Arg missense ALPK3 2 81356 2.45833E-5 40678 0 1.20465E-5
15-85382306-C-T p.Arg336Cys missense ALPK3 2 81434 2.45598E-5 40717 0 2.02949E-4
15-85382307-G-A p.Arg336His missense ALPK3 998 81294 0.0122764 40647 9 0.0146743
15-85382310-A-G p.His337Arg missense ALPK3 1 81288 1.23019E-5 40644 0 4.15638E-6
15-85382313-C-T p.Thr338Ile missense ALPK3 12 81284 1.47631E-4 40642 0 0.00100806
15-85382332-A-C c.1028+4A>C splice_region ALPK3 1 80766 1.23814E-5 40383 0 NA
15-85382335-G-C c.1028+7G>C splice_region ALPK3 1 80742 1.23851E-5 40371 0 NA
15-85382927-C-A c.1029-6C>A splice_region ALPK3 2 81980 2.43962E-5 40990 0 NA
15-85382931-AG-A c.1029-1delG splice_acceptor ALPK3 1 82036 1.21898E-5 41018 0 NA
15-85382931-A-G c.1029-2A>G splice_acceptor ALPK3 5 82036 6.09489E-5 41018 0 4.18624E-6
15-85382938-G-A p.Arg345Gln missense ALPK3 2 82286 2.43055E-5 41143 0 NA
15-85382948-T-C p.Asp348Asp synonymous ALPK3 5 82598 6.05342E-5 41299 0 3.1904E-5
15-85382961-C-T p.Gln353* stop_gained ALPK3 1 82844 1.20709E-5 41422 0 NA
15-85382963-G-A p.Gln353Gln synonymous ALPK3 3 82874 3.61995E-5 41437 0 1.68059E-5
15-85383025-T-G p.Met374Arg missense ALPK3 2 82960 2.4108E-5 41480 0 6.60633E-5
15-85383034-A-C p.Tyr377Ser missense ALPK3 1 82912 1.2061E-5 41456 0 1.19357E-5
15-85383040-TC-T p.His380fs frameshift ALPK3 1 82888 1.20645E-5 41444 0 NA
15-85383042-C-T p.His380Tyr missense ALPK3 3 82904 3.61864E-5 41452 0 NA
15-85383049-G-A p.Arg382His missense ALPK3 1 82876 1.20662E-5 41438 0 8.26119E-6
15-85383062-G-A p.Lys386Lys synonymous ALPK3 2 82830 2.41458E-5 41415 0 NA
15-85383070-G-T p.Arg389Leu missense ALPK3 1 82788 1.2079E-5 41394 0 7.96064E-6
15-85383074-G-A p.Lys390Lys synonymous ALPK3 1 82816 1.2075E-5 41408 0 3.14159E-4
15-85383076-C-T p.Ala391Val missense ALPK3 1 82760 1.20831E-5 41380 0 NA
15-85383093-G-A p.Glu397Lys missense ALPK3 3 82584 3.63266E-5 41292 0 1.19473E-5
15-85383104-G-A p.Gln400Gln synonymous ALPK3 1 82468 1.21259E-5 41234 0 NA
15-85383105-A-G p.Ser401Gly missense ALPK3 9 82452 1.09154E-4 41226 0 5.79528E-5
15-85383107-C-T p.Ser401Ser synonymous ALPK3 1 82436 1.21306E-5 41218 0 8.27924E-6
15-85383110-G-T p.Trp402Cys missense ALPK3 1 82410 1.21345E-5 41205 0 NA
15-85383115-A-C p.His404Pro missense ALPK3 1 82348 1.21436E-5 41174 0 8.28473E-6
15-85383115-A-G p.His404Arg missense ALPK3 1 82346 1.21439E-5 41173 0 6.37592E-5
15-85383117-G-T p.Glu405* stop_gained ALPK3 1 82318 1.2148E-5 41159 0 NA
15-85383134-G-C p.Gly410Gly synonymous ALPK3 3 82190 3.65008E-5 41095 0 2.23143E-4
15-85383145-C-G p.Thr414Ser missense ALPK3 19464 81670 0.238325 40835 2655 0.336875
15-85383155-G-A p.Lys417Lys synonymous ALPK3 1 82018 1.21924E-5 41009 0 NA
15-85383156-CT-GC p.Leu418Ala missense ALPK3 1 82018 1.21924E-5 41009 0 NA
15-85383158-C-G p.Leu418Leu synonymous ALPK3 4 82012 4.87733E-5 41006 0 3.35548E-5
15-85383161-C-T p.Ser419Ser synonymous ALPK3 1 81936 1.22046E-5 40968 0 4.0033E-6
15-85383163-C-T p.Pro420Leu missense ALPK3 15 81928 1.83088E-4 40964 0 2.23271E-4
15-85383164-C-G p.Pro420Pro synonymous ALPK3 4 81912 4.88329E-5 40956 0 6.37877E-5
15-85383174-CAGCGAAAGCGGCGATTG-C p.Lys426fs frameshift ALPK3 3 81816 3.66676E-5 40908 0 NA
15-85383184-G-T p.Arg427Leu missense ALPK3 1 81714 1.22378E-5 40857 0 8.52951E-6
15-85383194-C-T p.Ser430Ser synonymous ALPK3 3 81686 3.6726E-5 40843 0 6.38121E-5
15-85383198-G-A p.Ala432Thr missense ALPK3 3 81792 3.66784E-5 40896 0 NA
15-85383200-T-C p.Ala432Ala synonymous ALPK3 9 81812 1.10008E-4 40906 0 7.77283E-5
15-85383201-C-G p.Gln433Glu missense ALPK3 1 81848 1.22178E-5 40924 0 NA
15-85383205-C-T p.Ala434Val missense ALPK3 1 81852 1.22172E-5 40926 0 6.37959E-5
15-85383208-C-T p.Pro435Leu missense ALPK3 2 81920 2.44141E-5 40960 0 6.93589E-5
15-85383209-G-A p.Pro435Pro synonymous ALPK3 2 82052 2.43748E-5 41026 0 9.57243E-5
15-85383212-C-A p.Gly436Gly synonymous ALPK3 1 82104 1.21797E-5 41052 0 5.03525E-4
15-85383214-C-T p.Pro437Leu missense ALPK3 3 82238 3.64795E-5 41119 0 3.19305E-5
15-85383215-C-T p.Pro437Pro synonymous ALPK3 4 82262 4.86251E-5 41131 0 8.61282E-6
15-85383215-C-A p.Pro437Pro synonymous ALPK3 2 82262 2.43126E-5 41131 0 NA
15-85383222-C-T p.Pro440Ser missense ALPK3 6 82446 7.27749E-5 41223 0 1.27771E-4
15-85383223-C-A p.Pro440His missense ALPK3 1 82494 1.21221E-5 41247 0 NA
15-85383226-C-T p.Thr441Ile missense ALPK3 12 82528 1.45405E-4 41264 0 6.25E-4
15-85383236-T-C p.Pro444Pro synonymous ALPK3 6 82632 7.26111E-5 41316 0 8.40693E-5
15-85383241-G-T p.Gly446Val missense ALPK3 1 82682 1.20945E-5 41341 0 3.99559E-6
15-85383254-G-A p.Ala450Ala synonymous ALPK3 1 82780 1.20802E-5 41390 0 NA
15-85383284-T-G p.Ala460Ala synonymous ALPK3 2 83000 2.40964E-5 41500 0 3.97937E-6
15-85383296-T-C p.Gly464Gly synonymous ALPK3 3 83032 3.61306E-5 41516 0 8.27856E-6
15-85383301-G-T p.Gly466Val missense ALPK3 8 83052 9.63252E-5 41526 0 6.38244E-5
15-85383315-T-G p.Phe471Val missense ALPK3 2 83108 2.40651E-5 41554 0 NA
15-85383317-T-C p.Phe471Phe synonymous ALPK3 1 83114 1.20317E-5 41557 0 NA
15-85383324-G-A p.Gly474Arg missense ALPK3 1 83114 1.20317E-5 41557 0 1.19327E-5
15-85383335-C-T p.Thr477Thr synonymous ALPK3 1 83082 1.20363E-5 41541 0 1.19333E-5
15-85383342-G-A p.Gly480Arg missense ALPK3 6 83108 7.21952E-5 41554 0 3.18878E-4
15-85383344-G-A p.Gly480Gly synonymous ALPK3 1 83110 1.20322E-5 41555 0 3.97763E-6
15-85383345-G-T p.Glu481* stop_gained ALPK3 1 83092 1.20349E-5 41546 0 NA
15-85383348-G-T p.Ala482Ser missense ALPK3 2 83088 2.40709E-5 41544 0 NA
15-85383353-C-A p.Ala483Ala synonymous ALPK3 2 83092 2.40697E-5 41546 0 3.18837E-5
15-85383354-C-G p.Pro484Ala missense ALPK3 2 83102 2.40668E-5 41551 0 8.25505E-6
15-85383365-AGAGGACGGAGAGCATGGCTTGCTGACATACATCTGT-A p.Glu488_Cys499del disruptive_inframe_deletion ALPK3 1 83118 1.20311E-5 41559 0 8.25627E-6
15-85383371-C-T p.Asp489Asp synonymous ALPK3 1 83126 1.20299E-5 41563 0 NA
15-85383372-G-A p.Gly490Arg missense ALPK3 4 83124 4.81209E-5 41562 0 3.97985E-6
15-85383382-G-T p.Gly493Val missense ALPK3 1 83122 1.20305E-5 41561 0 NA
15-85383385-T-G p.Leu494Trp missense ALPK3 1 83102 1.20334E-5 41551 0 NA
15-85383387-C-A p.Leu495Met missense ALPK3 1 83080 1.20366E-5 41540 0 6.3804E-5
15-85383390-A-G p.Thr496Ala missense ALPK3 1 83100 1.20337E-5 41550 0 NA
15-85383392-A-G p.Thr496Thr synonymous ALPK3 3 83128 3.60889E-5 41564 0 3.71925E-4
15-85383394-A-G p.Tyr497Cys missense ALPK3 126 83114 0.00151599 41557 0 0.00354022
15-85383396-A-G p.Ile498Val missense ALPK3 2 83122 2.4061E-5 41561 0 3.9827E-6
15-85383403-A-G p.Asp500Gly missense ALPK3 14 83126 1.68419E-4 41563 0 0.00100806
15-85383405-G-A p.Ala501Thr missense ALPK3 3 83132 3.60872E-5 41566 0 3.18857E-5
15-85383406-C-A p.Ala501Asp missense ALPK3 1 83134 1.20288E-5 41567 0 6.38121E-5
15-85383409-T-A p.Met502Lys missense ALPK3 1 83156 1.20256E-5 41578 0 3.19366E-5
15-85383420-C-T p.Pro506Ser missense ALPK3 1 83168 1.20239E-5 41584 0 8.28267E-6
15-85383429-G-C p.Ala509Pro missense ALPK3 1 83214 1.20172E-5 41607 0 3.98791E-6
15-85383448-G-A p.Gly515Glu missense ALPK3 45 83228 5.40683E-4 41614 0 5.10106E-4
15-85383450-G-A p.Ala516Thr missense ALPK3 38 83230 4.56566E-4 41615 0 8.92686E-4
15-85383452-C-A p.Ala516Ala synonymous ALPK3 1 83220 1.20163E-5 41610 0 NA
15-85383455-G-C p.Lys517Asn missense ALPK3 1 83218 1.20166E-5 41609 0 3.19061E-5
15-85383458-G-A p.Lys518Lys synonymous ALPK3 51 83230 6.1276E-4 41615 0 2.87551E-4
15-85383472-A-G p.Glu523Gly missense ALPK3 1 83230 1.20149E-5 41615 0 1.91144E-4
15-85383490-T-C p.Leu529Pro missense ALPK3 1 83184 1.20215E-5 41592 0 NA
15-85383492-C-A p.Arg530Arg synonymous ALPK3 2 83154 2.40518E-5 41577 0 NA
15-85383510-A-G p.Lys536Glu missense ALPK3 6 83146 7.21622E-5 41573 0 1.59887E-5
15-85383513-G-T p.Ala537Ser missense ALPK3 1 83120 1.20308E-5 41560 0 NA
15-85383525-C-T p.Arg541Cys missense ALPK3 40 83204 4.80746E-4 41602 0 5.09846E-4
15-85383525-C-G p.Arg541Gly missense ALPK3 1 83206 1.20184E-5 41603 0 3.18654E-5
15-85383527-C-T p.Arg541Arg synonymous ALPK3 1 83208 1.20181E-5 41604 0 3.18552E-5
15-85383528-C-A p.Arg542Ser missense ALPK3 1 83208 1.20181E-5 41604 0 8.32764E-6
15-85383539-A-C p.Glu545Asp missense ALPK3 1 83194 1.20201E-5 41597 0 NA
15-85383546-A-C p.Ile548Leu missense ALPK3 11 83200 1.32212E-4 41600 0 1.59327E-4
15-85383552-A-G p.Ser550Gly missense ALPK3 1 83178 1.20224E-5 41589 0 NA
15-85383553-G-A p.Ser550Asn missense ALPK3 1 83166 1.20241E-5 41583 0 NA
15-85383566-T-A p.Pro554Pro synonymous ALPK3 1 83102 1.20334E-5 41551 0 NA
15-85383571-C-T p.Ser556Phe missense ALPK3 1 83060 1.20395E-5 41530 0 3.18532E-5
15-85383576-G-C p.Gly558Arg missense ALPK3 1 83014 1.20462E-5 41507 0 NA
15-85383594-G-T p.Gly564Cys missense ALPK3 1 82900 1.20627E-5 41450 0 NA
15-85383596-C-T p.Gly564Gly synonymous ALPK3 1 82844 1.20709E-5 41422 0 3.18654E-5
15-85383602-G-A p.Glu566Glu synonymous ALPK3 4 82798 4.83103E-5 41399 0 1.27445E-4
15-85383603-C-T p.Gln567* stop_gained ALPK3 6 82786 7.2476E-5 41393 0 4.18403E-5
15-85383618-C-A p.Pro572Thr missense ALPK3 2 82544 2.42295E-5 41272 0 NA
15-85383622-G-C p.Arg573Thr missense ALPK3 2 82508 2.42401E-5 41254 0 3.18695E-5
15-85383635-A-G p.Ala577Ala synonymous ALPK3 1 82222 1.21622E-5 41111 0 8.40195E-6
15-85383636-C-T p.Arg578Trp missense ALPK3 1 82164 1.21708E-5 41082 0 NA
15-85383637-G-A p.Arg578Gln missense ALPK3 1 82214 1.21634E-5 41107 0 8.41142E-6
15-85383640-G-A p.Gly579Glu missense ALPK3 19609 81946 0.239292 40973 2685 0.34125
15-85383641-G-C p.Gly579Gly synonymous ALPK3 1 82136 1.21749E-5 41068 0 NA
15-85383644-T-A p.Pro580Pro synonymous ALPK3 1 82136 1.21749E-5 41068 0 NA
15-85383682-C-T p.Ser593Phe missense ALPK3 3 82222 3.64866E-5 41111 0 4.24571E-5
15-85383693-A-G p.Thr597Ala missense ALPK3 1 82232 1.21607E-5 41116 0 5.03525E-4
15-85383709-A-G p.Gln602Arg missense ALPK3 1866 82286 0.022677 41143 27 0.0258929
15-85383712-A-C p.Lys603Thr missense ALPK3 3 82314 3.64458E-5 41157 0 NA
15-85383719-T-TGGCCCA p.Pro609_Gly610dup disruptive_inframe_insertion ALPK3 4 82328 4.85861E-5 41164 0 2.01248E-5
15-85383724-C-A p.Pro607Gln missense ALPK3 1 82340 1.21448E-5 41170 0 NA
15-85383736-A-G p.Gln611Arg missense ALPK3 6 82432 7.27873E-5 41216 0 1.27494E-4
15-85383736-A-C p.Gln611Pro missense ALPK3 1 82432 1.21312E-5 41216 0 4.0622E-6
15-85383740-A-G p.Glu612Glu synonymous ALPK3 1 82478 1.21244E-5 41239 0 NA
15-85383752-C-T p.Ser616Ser synonymous ALPK3 1 82526 1.21174E-5 41263 0 3.18715E-5
15-85383764-G-A p.Met620Ile missense ALPK3 1 82652 1.20989E-5 41326 0 2.62481E-5
15-85383776-C-T p.Asn624Asn synonymous ALPK3 2 82720 2.41779E-5 41360 0 8.83767E-5
15-85383791-G-A p.Arg629Arg synonymous ALPK3 1 82808 1.20761E-5 41404 0 NA
15-85383795-C-T p.Leu631Phe missense ALPK3 1 82860 1.20685E-5 41430 0 4.51345E-6
15-85383808-G-A p.Gly635Glu missense ALPK3 1 82880 1.20656E-5 41440 0 NA
15-85383813-C-A p.Gln637Lys missense ALPK3 1 82888 1.20645E-5 41444 0 3.27237E-5
15-85383814-A-G p.Gln637Arg missense ALPK3 3 82892 3.61917E-5 41446 0 3.7727E-5
15-85383823-G-A p.Ser640Asn missense ALPK3 1 82862 1.20683E-5 41431 0 NA
15-85383839-G-A p.Gly645Gly synonymous ALPK3 54007 81830 0.65999 40915 17908 0.681043
15-85383846-C-A p.Pro648Thr missense ALPK3 5 82774 6.04054E-5 41387 0 0.00388882
15-85383877-G-A p.Ser658Asn missense ALPK3 1 82702 1.20916E-5 41351 0 4.65112E-6
15-85383878-C-G p.Ser658Arg missense ALPK3 1 82672 1.2096E-5 41336 0 3.1904E-5
15-85383879-G-A p.Glu659Lys missense ALPK3 1 82712 1.20901E-5 41356 0 NA
15-85383887-G-A p.Val661Val synonymous ALPK3 1 82654 1.20986E-5 41327 0 NA
15-85383892-G-A p.Gly663Asp missense ALPK3 152 82662 0.00183881 41331 1 0.00553877
15-85383897-C-G p.Pro665Ala missense ALPK3 1 82774 1.20811E-5 41387 0 NA
15-85383903-C-A p.Gln667Lys missense ALPK3 5 82786 6.03967E-5 41393 0 3.86183E-5
15-85383906-C-T p.Pro668Ser missense ALPK3 1 82766 1.20823E-5 41383 0 NA
15-85383913-A-T p.His670Leu missense ALPK3 1 82844 1.20709E-5 41422 0 4.58123E-5
15-85383918-T-C p.Leu672Leu synonymous ALPK3 3 82894 3.61908E-5 41447 0 3.69367E-5
15-85383922-C-T p.Thr673Ile missense ALPK3 7 82934 8.44045E-5 41467 0 3.18593E-4
15-85383923-C-T p.Thr673Thr synonymous ALPK3 2 82946 2.41121E-5 41473 0 NA
15-85383932-G-A p.Pro676Pro synonymous ALPK3 4 82990 4.81986E-5 41495 0 7.74207E-5
15-85383933-A-T p.Thr677Ser missense ALPK3 2 83004 2.40952E-5 41502 0 NA
15-85383943-T-A p.Phe680Tyr missense ALPK3 1 83100 1.20337E-5 41550 0 7.99418E-6
15-85383946-A-G p.Asn681Ser missense ALPK3 2 83114 2.40633E-5 41557 0 NA
15-85383956-A-G p.Arg684Arg synonymous ALPK3 1 83170 1.20236E-5 41585 0 8.35562E-6
15-85383959-T-C p.Phe685Phe synonymous ALPK3 1 83182 1.20218E-5 41591 0 6.25E-4
15-85383964-C-T p.Pro687Leu missense ALPK3 2 83212 2.4035E-5 41606 0 8.31366E-6
15-85383964-C-A p.Pro687His missense ALPK3 4 83212 4.807E-5 41606 0 3.98308E-6
15-85383966-C-G p.Pro688Ala missense ALPK3 1 83230 1.20149E-5 41615 0 NA
15-85383967-C-T p.Pro688Leu missense ALPK3 8 83224 9.61261E-5 41612 0 9.13272E-5
15-85383983-G-C p.Glu693Asp missense ALPK3 1 83256 1.20111E-5 41628 0 7.95659E-6
15-85384000-A-G p.Lys699Arg missense ALPK3 1 83292 1.2006E-5 41646 0 3.97744E-6
15-85384012-C-T p.Ser703Phe missense ALPK3 1 83270 1.20091E-5 41635 0 NA
15-85384018-G-A p.Ser705Asn missense ALPK3 1 83268 1.20094E-5 41634 0 NA
15-85384026-C-T p.Pro708Ser missense ALPK3 2 83252 2.40234E-5 41626 1 NA
15-85384031-A-G p.Glu709Glu synonymous ALPK3 1 83242 1.20132E-5 41621 0 8.26023E-6
15-85384032-T-G p.Cys710Gly missense ALPK3 159 83238 0.00191019 41619 2 0.00331379
15-85384034-C-T p.Cys710Cys synonymous ALPK3 1 83244 1.20129E-5 41622 0 3.30568E-5
15-85384035-G-T p.Gly711Trp missense ALPK3 1 83236 1.2014E-5 41618 0 NA
15-85384040-C-T p.Ala712Ala synonymous ALPK3 1 83226 1.20155E-5 41613 0 4.95966E-5
15-85384043-G-A p.Gln713Gln synonymous ALPK3 3 83228 3.60456E-5 41614 0 1.19368E-5
15-85384046-C-G p.Ser714Arg missense ALPK3 2 83220 2.40327E-5 41610 0 NA
15-85384070-C-T p.Ala722Ala synonymous ALPK3 1 83180 1.20221E-5 41590 0 NA
15-85384071-T-TCTGTA p.Gln725fs frameshift ALPK3 1 83178 1.20224E-5 41589 0 NA
15-85384072-C-G p.Ser723Cys missense ALPK3 1 83172 1.20233E-5 41586 0 NA
15-85384088-G-A p.Thr728Thr synonymous ALPK3 5 83074 6.01873E-5 41537 0 1.67372E-5
15-85384096-C-T p.Ala731Val missense ALPK3 6 83020 7.22717E-5 41510 0 1.59357E-4
15-85384098-C-T p.Arg732Trp missense ALPK3 10 83016 1.20459E-4 41508 0 4.81263E-5
15-85384099-G-A p.Arg732Gln missense ALPK3 9 83026 1.084E-4 41513 0 1.27437E-4
15-85384107-C-T p.His735Tyr missense ALPK3 2 82950 2.41109E-5 41475 0 1.69454E-5
15-85384108-A-G p.His735Arg missense ALPK3 1 82942 1.20566E-5 41471 0 2.54306E-5
15-85384108-A-T p.His735Leu missense ALPK3 1 82942 1.20566E-5 41471 0 NA
15-85384116-C-T p.Arg738Trp missense ALPK3 3 82874 3.61995E-5 41437 0 5.03525E-4
15-85384122-A-C p.Ser740Arg missense ALPK3 1 82842 1.20712E-5 41421 0 NA
15-85384126-C-G p.Thr741Arg missense ALPK3 1 82798 1.20776E-5 41399 0 4.06537E-6
15-85384126-C-T p.Thr741Met missense ALPK3 1 82798 1.20776E-5 41399 0 9.5584E-5
15-85384130-G-A p.Leu742Leu synonymous ALPK3 1 82762 1.20828E-5 41381 0 NA
15-85384135-G-A p.Gly744Glu missense ALPK3 1 82728 1.20878E-5 41364 0 NA
15-85384138-A-G p.Gln745Arg missense ALPK3 1 82722 1.20887E-5 41361 0 NA
15-85384143-G-A p.Gly747Ser missense ALPK3 1 82682 1.20945E-5 41341 0 6.21714E-5
15-85384157-A-G p.Pro751Pro synonymous ALPK3 1 82584 1.21089E-5 41292 0 NA
15-85384169-T-G c.2259+6T>G splice_region ALPK3 2 82398 2.42724E-5 41199 0 3.19285E-5
15-85399615-G-T c.2260-8G>T splice_region ALPK3 1 83210 1.20178E-5 41605 0 NA
15-85399621-A-T c.2260-2A>T splice_acceptor ALPK3 1 83266 1.20097E-5 41633 0 NA
15-85399628-G-A p.Leu755Leu synonymous ALPK3 1 83286 1.20068E-5 41643 0 NA
15-85399632-T-A p.Cys757Ser missense ALPK3 2 83306 2.40079E-5 41653 0 2.6491E-5
15-85399645-C-T p.Thr761Met missense ALPK3 146 83322 0.00175224 41661 1 0.00658303
15-85399647-G-A p.Ala762Thr missense ALPK3 3 83330 3.60014E-5 41665 0 8.67167E-5
15-85399650-C-T p.Pro763Ser missense ALPK3 3 83330 3.60014E-5 41665 0 9.35766E-5
15-85399655-C-T p.Thr764Thr synonymous ALPK3 1 83332 1.20002E-5 41666 0 8.59801E-6
15-85399656-A-G p.Met765Val missense ALPK3 1 83330 1.20005E-5 41665 0 NA
15-85399657-T-G p.Met765Arg missense ALPK3 20 83330 2.4001E-4 41665 0 1.25681E-4
15-85399657-T-C p.Met765Thr missense ALPK3 1 83330 1.20005E-5 41665 0 6.36902E-5
15-85399660-C-T p.Ser766Leu missense ALPK3 14 83326 1.68015E-4 41663 0 1.71215E-5
15-85399661-G-A p.Ser766Ser synonymous ALPK3 1 83324 1.20013E-5 41662 0 3.18471E-5
15-85399678-A-T p.Asp772Val missense ALPK3 6 83340 7.19942E-5 41670 0 6.36821E-5
15-85399679-T-C p.Asp772Asp synonymous ALPK3 308 83338 0.00369579 41669 7 0.00858812
15-85399684-C-T p.Ala774Val missense ALPK3 1 83348 1.19979E-5 41674 0 6.3678E-5
15-85399694-G-A p.Gly777Gly synonymous ALPK3 2 83342 2.39975E-5 41671 0 3.97766E-6
15-85399695-G-T p.Val778Phe missense ALPK3 2 83348 2.39958E-5 41674 0 NA
15-85399698-A-G p.Ser779Gly missense ALPK3 1 83344 1.19985E-5 41672 0 NA
15-85399702-C-G p.Thr780Ser missense ALPK3 1 83350 1.19976E-5 41675 0 3.97706E-6
15-85399706-C-T p.Ser781Ser synonymous ALPK3 52 83344 6.2392E-4 41672 0 0.00140322
15-85399707-G-A p.Gly782Arg missense ALPK3 11 83342 1.31986E-4 41671 0 1.91071E-4
15-85399734-G-A p.Asp791Asn missense ALPK3 2 83332 2.40004E-5 41666 0 3.29576E-5
15-85399737-A-T p.Met792Leu missense ALPK3 1 83330 1.20005E-5 41665 0 8.239E-6
15-85399748-G-C p.Gln795His missense ALPK3 1 83314 1.20028E-5 41657 0 NA
15-85399750-A-G p.Glu796Gly missense ALPK3 1 83302 1.20045E-5 41651 0 NA
15-85399757-G-A p.Gly798Gly synonymous ALPK3 1 83304 1.20042E-5 41652 0 3.18492E-5
15-85399764-T-C p.Ser801Pro missense ALPK3 1 83300 1.20048E-5 41650 0 3.97684E-6
15-85399775-G-C p.Gln804His missense ALPK3 2 83286 2.40136E-5 41643 0 3.97716E-6
15-85399797-G-A p.Val812Met missense ALPK3 4 83252 4.80469E-5 41626 0 3.18573E-5
15-85399799-G-A p.Val812Val synonymous ALPK3 1 83240 1.20135E-5 41620 0 2.47166E-5
15-85399807-A-T p.Asp815Val missense ALPK3 1 83212 1.20175E-5 41606 0 NA
15-85399822-T-C p.Val820Ala missense ALPK3 1 83176 1.20227E-5 41588 0 5.03525E-4
15-85399824-G-A p.Asp821Asn missense ALPK3 1 83182 1.20218E-5 41591 0 8.2394E-6
15-85399825-A-T p.Asp821Val missense ALPK3 1 83172 1.20233E-5 41586 0 1.59177E-5
15-85399869-C-T p.Arg836Cys missense ALPK3 90 83062 0.00108353 41531 2 6.56905E-4
15-85399882-A-G p.Lys840Arg missense ALPK3 1 83100 1.20337E-5 41550 0 NA
15-85399885-C-T p.Thr841Met missense ALPK3 3 83098 3.6102E-5 41549 0 4.94813E-5
15-85399886-G-A p.Thr841Thr synonymous ALPK3 6 83072 7.22265E-5 41536 0 3.18532E-5
15-85399889-G-C p.Gln842His missense ALPK3 1 83094 1.20346E-5 41547 0 NA
15-85399909-A-G p.Glu849Gly missense ALPK3 1 83170 1.20236E-5 41585 0 NA
15-85399913-C-T p.Ser850Ser synonymous ALPK3 1 83184 1.20215E-5 41592 0 NA
15-85399920-C-A p.Pro853Thr missense ALPK3 1 83194 1.20201E-5 41597 0 NA
15-85399930-A-T p.Asp856Val missense ALPK3 2 83222 2.40321E-5 41611 0 3.18634E-5
15-85399936-G-A p.Ser858Asn missense ALPK3 9 83236 1.08126E-4 41618 1 1.6497E-5
15-85399951-T-A p.Met863Lys missense ALPK3 11 83258 1.32119E-4 41629 0 0.00100705
15-85399954-T-A p.Met864Lys missense ALPK3 1 83266 1.20097E-5 41633 0 NA
15-85399961-G-A p.Gln866Gln synonymous ALPK3 1 83280 1.20077E-5 41640 0 1.19368E-5
15-85399968-G-A p.Ala869Thr missense ALPK3 1 83266 1.20097E-5 41633 0 NA
15-85399971-G-C p.Glu870Gln missense ALPK3 1 83274 1.20085E-5 41637 0 NA
15-85399980-C-T p.Leu873Leu synonymous ALPK3 1 83286 1.20068E-5 41643 0 7.95786E-6
15-85400039-G-C p.Lys892Asn missense ALPK3 1 83288 1.20065E-5 41644 0 3.97874E-6
15-85400058-AGGATGCAGGGAGAGAAGG-A p.Met906_Gly911del disruptive_inframe_deletion ALPK3 8 83230 9.61192E-5 41615 0 5.56957E-5
15-85400063-G-A p.Met900Ile missense ALPK3 2 83234 2.40286E-5 41617 0 NA
15-85400072-G-A p.Glu903Glu synonymous ALPK3 4 83224 4.80631E-5 41612 0 8.24389E-6
15-85400075-G-C p.Lys904Asn missense ALPK3 1 83224 1.20158E-5 41612 0 8.2447E-6
15-85400098-C-T p.Thr912Met missense ALPK3 8 83130 9.62348E-5 41565 0 6.38081E-5
15-85400099-G-A p.Thr912Thr synonymous ALPK3 6 83108 7.21952E-5 41554 0 1.40125E-4
15-85400103-T-G p.Ser914Ala missense ALPK3 1 83080 1.20366E-5 41540 0 3.19816E-5
15-85400115-G-A p.Ala918Thr missense ALPK3 5 82966 6.02657E-5 41483 0 3.50967E-4
15-85400116-C-T p.Ala918Val missense ALPK3 3 82976 3.6155E-5 41488 0 1.64948E-5
15-85400122-C-T p.Thr920Ile missense ALPK3 1 82962 1.20537E-5 41481 0 NA
15-85400146-A-G p.Gln928Arg missense ALPK3 735 82764 0.00888067 41382 10 0.0161095
15-85400150-G-C p.Glu929Asp missense ALPK3 12 82730 1.4505E-4 41365 0 3.18857E-4
15-85400152-T-C p.Val930Ala missense ALPK3 1 82700 1.20919E-5 41350 0 NA
15-85400158-C-A p.Thr932Asn missense ALPK3 1 82674 1.20957E-5 41337 0 NA
15-85400165-C-T p.Leu934Leu synonymous ALPK3 4 82614 4.84179E-5 41307 0 2.47313E-5
15-85400174-A-G p.Pro937Pro synonymous ALPK3 22 82588 2.66383E-4 41294 0 3.18593E-4
15-85400192-C-T p.Leu943Leu synonymous ALPK3 55 82570 6.66101E-4 41285 0 0.00100705
15-85400194-C-T p.Pro944Leu missense ALPK3 1 82580 1.21095E-5 41290 0 2.4737E-5
15-85400199-A-G p.Thr946Ala missense ALPK3 1 82588 1.21083E-5 41294 0 8.24593E-6
15-85400202-G-T p.Ala947Ser missense ALPK3 1 82554 1.21133E-5 41277 0 1.64932E-5
15-85400204-G-A p.Ala947Ala synonymous ALPK3 5 82556 6.0565E-5 41278 0 3.18857E-5
15-85400211-A-G p.Arg950Gly missense ALPK3 4 82646 4.83992E-5 41323 0 3.29902E-5
15-85400212-G-GA p.Ala951fs frameshift ALPK3 1 82636 1.21013E-5 41318 0 NA
15-85400218-C-T p.Pro952Leu missense ALPK3 1 82710 1.20904E-5 41355 0 NA
15-85400220-C-T p.Leu953Leu synonymous ALPK3 3 82758 3.62503E-5 41379 0 3.18796E-5
15-85400231-A-G p.Glu956Glu synonymous ALPK3 61 82936 7.35507E-4 41468 0 4.09784E-4
15-85400236-T-C p.Phe958Ser missense ALPK3 1 82952 1.20552E-5 41476 0 3.97852E-6
15-85400238-G-C p.Val959Leu missense ALPK3 1 82960 1.2054E-5 41480 0 NA
15-85400240-A-G p.Val959Val synonymous ALPK3 1 82986 1.20502E-5 41493 0 NA
15-85400254-G-T p.Gly964Val missense ALPK3 1 83118 1.20311E-5 41559 0 2.3873E-5
15-85400254-G-A p.Gly964Glu missense ALPK3 1 83118 1.20311E-5 41559 0 3.97883E-6
15-85400266-C-CA p.Pro971fs frameshift ALPK3 1 83212 1.20175E-5 41606 0 3.97899E-6
15-85400268-A-G p.Lys969Glu missense ALPK3 1 83210 1.20178E-5 41605 0 1.65106E-5
15-85400273-A-T p.Lys970Asn missense ALPK3 2 83248 2.40246E-5 41624 0 2.78436E-5
15-85400300-G-A p.Glu979Glu synonymous ALPK3 1 83282 1.20074E-5 41641 0 NA
15-85400313-GC-AT p.Ala984Ile missense ALPK3 1 83282 1.20074E-5 41641 0 NA
15-85400313-G-A p.Ala984Thr missense ALPK3 1 83282 1.20074E-5 41641 0 1.65194E-5
15-85400314-C-T p.Ala984Val missense ALPK3 1 83280 1.20077E-5 41640 0 1.65202E-5
15-85400320-G-A p.Arg986Lys missense ALPK3 2 83286 2.40136E-5 41643 0 1.65235E-5
15-85400326-A-G p.His988Arg missense ALPK3 4 83270 4.80365E-5 41635 0 3.18613E-5
15-85400332-A-G p.Gln990Arg missense ALPK3 1 83266 1.20097E-5 41633 0 NA
15-85400334-A-T p.Thr991Ser missense ALPK3 1 83260 1.20106E-5 41630 0 NA
15-85400335-C-G p.Thr991Ser missense ALPK3 3 83254 3.60343E-5 41627 0 6.37146E-5
15-85400336-T-C p.Thr991Thr synonymous ALPK3 257 83246 0.00308724 41623 0 0.0075
15-85400339-G-T p.Val992Val synonymous ALPK3 1 83244 1.20129E-5 41622 0 NA
15-85400343-G-A p.Gly994Ser missense ALPK3 1 83240 1.20135E-5 41620 0 NA
15-85400343-G-T p.Gly994Cys missense ALPK3 1 83240 1.20135E-5 41620 0 NA
15-85400353-CAG-C p.Gly998fs frameshift ALPK3 1 83198 1.20195E-5 41599 0 NA
15-85400354-A-G p.Ser997Ser synonymous ALPK3 5 83200 6.00962E-5 41600 0 NA
15-85400360-C-A p.Asn999Lys missense ALPK3 5 83166 6.01207E-5 41583 0 3.98518E-6
15-85400363-C-G p.Leu1000Leu synonymous ALPK3 3 83130 3.60881E-5 41565 0 8.27472E-6
15-85400363-C-T p.Leu1000Leu synonymous ALPK3 1 83130 1.20294E-5 41565 0 NA
15-85400370-C-T p.Pro1003Ser missense ALPK3 1 83086 1.20357E-5 41543 0 8.28459E-6
15-85400380-C-T p.Pro1006Leu missense ALPK3 1 83192 1.20204E-5 41596 0 5.03525E-4
15-85400381-G-A p.Pro1006Pro synonymous ALPK3 1 83202 1.20189E-5 41601 0 1.5942E-5
15-85400383-C-T p.Pro1007Leu missense ALPK3 1 83220 1.20163E-5 41610 0 6.37592E-5
15-85400393-G-C p.Gly1010Gly synonymous ALPK3 2 83242 2.40263E-5 41621 0 8.28418E-6
15-85400395-G-A p.Ser1011Asn missense ALPK3 4 83254 4.80457E-5 41627 0 0.00100705
15-85400400-G-A p.Glu1013Lys missense ALPK3 729 83242 0.0087576 41621 9 0.016201
15-85400401-A-G p.Glu1013Gly missense ALPK3 2 83252 2.40234E-5 41626 0 NA
15-85400404-A-G p.Gln1014Arg missense ALPK3 1 83260 1.20106E-5 41630 0 1.19574E-5
15-85400404-AGGT-A p.Val1015del disruptive_inframe_deletion ALPK3 1 83260 1.20106E-5 41630 0 NA
15-85400413-G-A p.Gly1017Glu missense ALPK3 1 83246 1.20126E-5 41623 0 9.95074E-5
15-85400420-A-G p.Arg1019Arg synonymous ALPK3 5 83256 6.00557E-5 41628 0 8.36927E-5
15-85400424-C-T p.Arg1021* stop_gained ALPK3 2 83234 2.40286E-5 41617 0 7.97435E-6
15-85400425-G-A p.Arg1021Gln missense ALPK3 4 83246 4.80504E-5 41623 0 3.32105E-5
15-85400434-A-G p.Gln1024Arg missense ALPK3 1 83220 1.20163E-5 41610 0 3.98651E-6
15-85400438-A-G p.Ser1025Ser synonymous ALPK3 7 83210 8.41245E-5 41605 0 0.00124267
15-85400438-A-AT p.Ser1026fs frameshift ALPK3 1 83210 1.20178E-5 41605 0 3.98616E-6
15-85400440-C-CATT p.Ser1026_Gly1027insLeu conservative_inframe_insertion ALPK3 1 83210 1.20178E-5 41605 0 3.9875E-6
15-85400443-G-T p.Gly1027Val missense ALPK3 1 83198 1.20195E-5 41599 0 NA
15-85400446-C-T p.Pro1028Leu missense ALPK3 21 83210 2.52374E-4 41605 0 8.31642E-5
15-85400450-C-T p.Val1029Val synonymous ALPK3 3 83164 3.60733E-5 41582 0 3.18695E-5
15-85400450-C-A p.Val1029Val synonymous ALPK3 2 83164 2.40489E-5 41582 0 NA
15-85400451-G-A p.Glu1030Lys missense ALPK3 2 83164 2.40489E-5 41582 0 3.18776E-5
15-85400460-CAGG-C p.Glu1034del disruptive_inframe_deletion ALPK3 4 83138 4.81128E-5 41569 1 8.32335E-6
15-85400467-A-G p.Asp1035Gly missense ALPK3 3 83142 3.60828E-5 41571 0 6.37471E-5
15-85400473-C-T p.Pro1037Leu missense ALPK3 12 83118 1.44373E-4 41559 0 7.49962E-5
15-85400474-G-A p.Pro1037Pro synonymous ALPK3 3 83118 3.60933E-5 41559 0 3.99173E-5
15-85400480-G-A p.Gln1039Gln synonymous ALPK3 1 83100 1.20337E-5 41550 0 NA
15-85400482-G-T p.Cys1040Phe missense ALPK3 1 83100 1.20337E-5 41550 0 2.49875E-5
15-85400489-G-A p.Lys1042Lys synonymous ALPK3 1 83060 1.20395E-5 41530 0 NA
15-85400497-G-A p.Arg1045Gln missense ALPK3 16 83060 1.92632E-4 41530 0 5.04032E-4
15-85400498-G-A p.Arg1045Arg synonymous ALPK3 7 83054 8.42825E-5 41527 0 1.59398E-4
15-85400499-C-T p.Pro1046Ser missense ALPK3 332 83046 0.00399778 41523 9 0.00928439
15-85400503-G-A p.Gly1047Glu missense ALPK3 1 83074 1.20375E-5 41537 0 NA
15-85400505-G-C p.Gly1048Arg missense ALPK3 1 83074 1.20375E-5 41537 0 6.78415E-5
15-85400512-C-T p.Pro1050Leu missense ALPK3 6 83012 7.22787E-5 41506 0 0.00125
15-85400525-G-C p.Gln1054His missense ALPK3 2 83040 2.40848E-5 41520 0 NA
15-85400526-G-A p.Gly1055Ser missense ALPK3 1 83024 1.20447E-5 41512 0 NA
15-85400533-G-A p.Cys1057Tyr missense ALPK3 1 83028 1.20441E-5 41514 0 1.19601E-5
15-85400562-C-T p.Pro1067Ser missense ALPK3 2 83060 2.4079E-5 41530 0 NA
15-85400564-C-T p.Pro1067Pro synonymous ALPK3 285 83046 0.00343183 41523 0 0.00430498
15-85400566-C-T p.Thr1068Met missense ALPK3 185 83052 0.00222752 41526 2 0.0100705
15-85400567-G-C p.Thr1068Thr synonymous ALPK3 6 83058 7.22387E-5 41529 0 5.80605E-5
15-85400567-G-A p.Thr1068Thr synonymous ALPK3 1 83058 1.20398E-5 41529 0 1.19504E-5
15-85400580-C-T p.Pro1073Ser missense ALPK3 2 83076 2.40743E-5 41538 0 3.9827E-6
15-85400584-G-C p.Gly1074Ala missense ALPK3 1 83050 1.20409E-5 41525 0 6.37227E-5
15-85400599-C-G p.Ala1079Gly missense ALPK3 1 83030 1.20438E-5 41515 0 NA
15-85400609-G-A p.Lys1082Lys synonymous ALPK3 6 83024 7.22683E-5 41512 0 1.59317E-4
15-85400610-G-A p.Ala1083Thr missense ALPK3 1 83010 1.20467E-5 41505 0 NA
15-85400611-C-T p.Ala1083Val missense ALPK3 4 82988 4.81997E-5 41494 0 4.38299E-5
15-85400612-G-A p.Ala1083Ala synonymous ALPK3 1 82988 1.20499E-5 41494 0 1.1953E-5
15-85400628-C-T p.Pro1089Ser missense ALPK3 3 82942 3.61699E-5 41471 0 2.48954E-5
15-85400628-C-G p.Pro1089Ala missense ALPK3 1 82942 1.20566E-5 41471 0 NA
15-85400629-C-T p.Pro1089Leu missense ALPK3 1 82940 1.20569E-5 41470 0 6.37714E-5
15-85400630-G-A p.Pro1089Pro synonymous ALPK3 2 82918 2.41202E-5 41459 0 3.18857E-5
15-85400632-C-T p.Thr1090Ile missense ALPK3 1 82926 1.20589E-5 41463 0 NA
15-85400636-T-A p.Ser1091Ser synonymous ALPK3 1 82904 1.20621E-5 41452 0 NA
15-85400637-C-T p.Gln1092* stop_gained ALPK3 2 82908 2.41231E-5 41454 0 NA
15-85400642-C-T p.His1093His synonymous ALPK3 2 82852 2.41394E-5 41426 0 1.66201E-5
15-85400643-G-A p.Gly1094Arg missense ALPK3 32 82824 3.86361E-4 41412 0 1.9936E-4
15-85400645-G-T p.Gly1094Gly synonymous ALPK3 1 82820 1.20744E-5 41410 0 3.18695E-5
15-85400647-G-C p.Ser1095Thr missense ALPK3 1 82802 1.2077E-5 41401 0 NA
15-85400670-G-A p.Glu1103Lys missense ALPK3 4 82484 4.84943E-5 41242 0 9.98458E-5
15-85400685-A-T p.Met1108Leu missense ALPK3 1 82164 1.21708E-5 41082 0 0.00100705
15-85400696-C-T p.Ala1111Ala synonymous ALPK3 2 81942 2.44075E-5 40971 0 5.03525E-4
15-85400696-C-A p.Ala1111Ala synonymous ALPK3 1 81942 1.22038E-5 40971 0 NA
15-85400705-G-A p.Leu1114Leu synonymous ALPK3 1 81842 1.22187E-5 40921 0 4.05183E-6
15-85400707-A-C p.His1115Pro missense ALPK3 4 81808 4.8895E-5 40904 0 6.37146E-5
15-85400709-C-G p.Leu1116Val missense ALPK3 1 81798 1.22252E-5 40899 0 4.07807E-6
15-85400716-T-C p.Leu1118Pro missense ALPK3 33 81720 4.03818E-4 40860 0 4.7789E-4
15-85400726-C-T p.Pro1121Pro synonymous ALPK3 1 81648 1.22477E-5 40824 0 NA
15-85400773-C-G p.Ala1137Gly missense ALPK3 1 81178 1.23186E-5 40589 0 NA
15-85400776-G-A p.Cys1138Tyr missense ALPK3 1 81178 1.23186E-5 40589 0 9.14127E-6
15-85400777-C-T p.Cys1138Cys synonymous ALPK3 10 81122 1.23271E-4 40561 0 1.28146E-4
15-85400778-G-A p.Ala1139Thr missense ALPK3 4 81112 4.93145E-5 40556 0 6.40228E-5
15-85400779-C-T p.Ala1139Val missense ALPK3 2 81130 2.46518E-5 40565 0 3.18573E-5
15-85400780-C-G p.Ala1139Ala synonymous ALPK3 1165 81146 0.0143568 40573 5 0.0137667
15-85400799-G-C p.Gly1146Arg missense ALPK3 1 81248 1.2308E-5 40624 0 NA
15-85400800-G-A p.Gly1146Glu missense ALPK3 9 81204 1.10832E-4 40602 0 9.1932E-5
15-85400802-C-T p.Arg1147Trp missense ALPK3 5 81168 6.16006E-5 40584 0 9.56511E-5
15-85400803-G-A p.Arg1147Gln missense ALPK3 4 81230 4.92429E-5 40615 0 3.18735E-5
15-85400811-G-A p.Gly1150Ser missense ALPK3 4 81392 4.91449E-5 40696 0 NA
15-85400811-G-T p.Gly1150Cys missense ALPK3 1 81392 1.22862E-5 40696 0 4.59369E-6
15-85400812-G-A p.Gly1150Asp missense ALPK3 3 81400 3.6855E-5 40700 0 5.93591E-5
15-85400816-C-T p.Pro1151Pro synonymous ALPK3 1 81436 1.22796E-5 40718 0 NA
15-85400817-C-T p.Arg1152Trp missense ALPK3 4 81480 4.90918E-5 40740 0 3.18878E-5
15-85400820-A-AAGACAGAAGGATGCAGGGAGAGAAGGGGAT p.Ser1153delinsLysThrGluGlyCysArgGluArgArgGlyCys disruptive_inframe_insertion ALPK3 1 81556 1.22615E-5 40778 0 NA
15-85400833-G-A p.Gly1157Asp missense ALPK3 1 81740 1.22339E-5 40870 0 0.00100705
15-85400845-C-T p.Ser1161Phe missense ALPK3 1 81940 1.22041E-5 40970 0 3.18634E-5
15-85400856-T-C p.Tyr1165His missense ALPK3 1 82008 1.21939E-5 41004 0 9.08529E-6
15-85400859-C-A p.Leu1166Met missense ALPK3 2 82028 2.43819E-5 41014 0 4.28064E-6
15-85400882-C-T p.Ser1173Ser synonymous ALPK3 1 82068 1.2185E-5 41034 0 NA
15-85400887-CAG-C p.Glu1176fs frameshift ALPK3 1 82066 1.21853E-5 41033 0 NA
15-85400892-A-G p.Thr1177Ala missense ALPK3 1 82044 1.21886E-5 41022 0 8.10918E-6
15-85400894-A-G p.Thr1177Thr synonymous ALPK3 5 82018 6.09622E-5 41009 0 1.59378E-4
15-85400896-G-A p.Ser1178Asn missense ALPK3 1 81988 1.21969E-5 40994 0 NA
15-85400897-T-C p.Ser1178Ser synonymous ALPK3 1 81968 1.21999E-5 40984 0 1.75642E-5
15-85400903-A-G p.Ala1180Ala synonymous ALPK3 1 81952 1.22023E-5 40976 0 6.11162E-5
15-85400908-G-T p.Gly1182Val missense ALPK3 1 81942 1.22038E-5 40971 0 NA
15-85400908-G-C p.Gly1182Ala missense ALPK3 1 81942 1.22038E-5 40971 0 4.02933E-6
15-85400912-G-T p.Glu1183Asp missense ALPK3 1 81866 1.22151E-5 40933 0 NA
15-85400933-C-T p.Thr1190Thr synonymous ALPK3 15 81944 1.83052E-4 40972 0 1.70262E-4
15-85400934-G-A p.Gly1191Arg missense ALPK3 21 81970 2.56191E-4 40985 0 0.00100705
15-85400955-A-G p.Thr1198Ala missense ALPK3 2 82164 2.43416E-5 41082 0 NA
15-85400962-C-T p.Thr1200Ile missense ALPK3 2 82250 2.43161E-5 41125 0 1.68771E-5
15-85400989-G-A p.Ser1209Asn missense ALPK3 1 82420 1.2133E-5 41210 0 NA
15-85400993-C-G p.Pro1210Pro synonymous ALPK3 3 82436 3.63919E-5 41218 0 1.59944E-5
15-85400994-C-T p.Arg1211Trp missense ALPK3 5 82438 6.06516E-5 41219 0 5.03525E-4
15-85400995-G-A p.Arg1211Gln missense ALPK3 13 82438 1.57694E-4 41219 0 2.23214E-4
15-85401001-C-T p.Ser1213Leu missense ALPK3 5 82428 6.0659E-5 41214 0 8.43811E-5
15-85401006-C-T p.Arg1215Cys missense ALPK3 3 82422 3.63981E-5 41211 0 6.25E-4
15-85401006-C-G p.Arg1215Gly missense ALPK3 1 82422 1.21327E-5 41211 0 3.1902E-5
15-85401007-G-A p.Arg1215His missense ALPK3 11 82432 1.33443E-4 41216 0 5.03525E-4
15-85401007-G-C p.Arg1215Pro missense ALPK3 1 82432 1.21312E-5 41216 0 NA
15-85401012-C-T p.Leu1217Leu synonymous ALPK3 2 82444 2.42589E-5 41222 0 NA
15-85401015-G-A p.Glu1218Lys missense ALPK3 1 82396 1.21365E-5 41198 0 NA
15-85401018-C-T p.Arg1219Cys missense ALPK3 3 82332 3.64378E-5 41166 0 5.03525E-4
15-85401018-C-A p.Arg1219Ser missense ALPK3 1 82332 1.21459E-5 41166 0 NA
15-85401037-T-G p.Leu1225Arg missense ALPK3 1 82204 1.21649E-5 41102 0 NA
15-85401055-C-A p.Thr1231Asn missense ALPK3 2 81920 2.44141E-5 40960 0 3.18857E-5
15-85401056-C-A p.Thr1231Thr synonymous ALPK3 1 81906 1.22091E-5 40953 0 NA
15-85401058-T-C p.Leu1232Pro missense ALPK3 1 81836 1.22196E-5 40918 0 NA
15-85401062-G-C p.Leu1233Leu synonymous ALPK3 5 81700 6.11995E-5 40850 0 6.25E-4
15-85401071-C-T p.Pro1236Pro synonymous ALPK3 1 81534 1.22648E-5 40767 0 4.04194E-6
15-85401073-G-A p.Cys1237Tyr missense ALPK3 3 81484 3.6817E-5 40742 0 8.625E-6
15-85401081-C-T p.Arg1240Cys missense ALPK3 3 81322 3.68904E-5 40661 0 5.23963E-5
15-85401082-G-A p.Arg1240His missense ALPK3 1 81272 1.23044E-5 40636 0 9.56389E-5
15-85401084-C-T p.Arg1241Cys missense ALPK3 1 81230 1.23107E-5 40615 0 5.03525E-4
15-85401085-G-A p.Arg1241His missense ALPK3 8 81206 9.85149E-5 40603 0 5.03525E-4
15-85401092-C-T p.Thr1243Thr synonymous ALPK3 1 81124 1.23268E-5 40562 0 2.43463E-5
15-85401093-G-A p.Gly1244Ser missense ALPK3 2 81098 2.46615E-5 40549 0 6.25E-4
15-85401105-C-T p.Arg1248Cys missense ALPK3 5 80886 6.18154E-5 40443 0 2.75877E-5
15-85401106-G-A p.Arg1248His missense ALPK3 3 80902 3.70819E-5 40451 0 2.40505E-4
15-85401114-C-T p.Gln1251* stop_gained ALPK3 1 80854 1.2368E-5 40427 0 NA
15-85401115-A-G p.Gln1251Arg missense ALPK3 2 80848 2.47378E-5 40424 0 NA
15-85401123-C-T p.Arg1254Cys missense ALPK3 4 80814 4.94964E-5 40407 0 9.56206E-5
15-85401124-G-A p.Arg1254His missense ALPK3 2 80766 2.47629E-5 40383 0 3.18654E-5
15-85401135-G-A p.Ala1258Thr missense ALPK3 1 80832 1.23713E-5 40416 0 NA
15-85401138-G-A p.Ala1259Thr missense ALPK3 3 80812 3.71232E-5 40406 0 6.37227E-5
15-85401144-C-T p.Arg1261* stop_gained ALPK3 2 80800 2.47525E-5 40400 0 5.136E-5
15-85401144-C-G p.Arg1261Gly missense ALPK3 1 80800 1.23762E-5 40400 0 2.0544E-5
15-85401162-G-A p.Gly1267Ser missense ALPK3 2 80722 2.47764E-5 40361 0 4.21056E-6
15-85401170-C-T p.Ser1269Ser synonymous ALPK3 1 80710 1.239E-5 40355 0 1.07835E-5
15-85401193-T-G p.Val1277Gly missense ALPK3 1 81164 1.23207E-5 40582 0 NA
15-85401199-ACG-A p.Asp1279fs frameshift ALPK3 1 81202 1.2315E-5 40601 0 NA
15-85401200-C-T p.Asp1279Asp synonymous ALPK3 7 81202 8.62048E-5 40601 0 1.9243E-4
15-85401201-G-A p.Glu1280Lys missense ALPK3 1 81298 1.23004E-5 40649 0 1.13153E-5
15-85401202-A-G p.Glu1280Gly missense ALPK3 1 81312 1.22983E-5 40656 0 NA
15-85401240-G-T p.Gly1293Cys missense ALPK3 1 81766 1.223E-5 40883 0 NA
15-85401241-G-T p.Gly1293Val missense ALPK3 1 81752 1.22321E-5 40876 0 3.56066E-5
15-85401256-C-G p.Ser1298Cys missense ALPK3 1 81636 1.22495E-5 40818 0 NA
15-85401258-C-T p.Pro1299Ser missense ALPK3 2 81628 2.45014E-5 40814 0 2.39553E-5
15-85401259-C-T p.Pro1299Leu missense ALPK3 61818 81320 0.760182 40660 23569 0.78608
15-85401263-G-C p.Glu1300Asp missense ALPK3 1 81606 1.2254E-5 40803 0 NA
15-85401271-G-A p.Gly1303Asp missense ALPK3 22 81540 2.69806E-4 40770 0 3.50989E-4
15-85401273-C-T p.Leu1304Phe missense ALPK3 1 81538 1.22642E-5 40769 0 5.04169E-6
15-85401277-T-A p.Leu1305Gln missense ALPK3 1 81464 1.22754E-5 40732 0 NA
15-85401279-G-A p.Gly1306Arg missense ALPK3 1 81464 1.22754E-5 40732 0 NA
15-85401288-C-G p.Gln1309Glu missense ALPK3 8 81398 9.82825E-5 40699 0 8.25335E-5
15-85401307-G-T p.Gly1315Val missense ALPK3 1 81100 1.23305E-5 40550 0 3.19346E-5
15-85401309-C-T p.Arg1316* stop_gained ALPK3 1 81032 1.23408E-5 40516 0 1.5204E-5
15-85401310-G-A p.Arg1316Gln missense ALPK3 2 81026 2.46834E-5 40513 0 3.19285E-5
15-85401314-G-A p.Leu1317Leu synonymous ALPK3 1 81142 1.23241E-5 40571 0 5.02543E-6
15-85401321-G-A p.Ala1320Thr missense ALPK3 3 81020 3.70279E-5 40510 0 1.16268E-5
15-85401322-C-T p.Ala1320Val missense ALPK3 58 80960 7.16403E-4 40480 0 5.04541E-4
15-85401323-G-A p.Ala1320Ala synonymous ALPK3 20 81084 2.46658E-4 40542 0 6.0668E-4
15-85401327-G-A p.Gly1322Arg missense ALPK3 1 80986 1.23478E-5 40493 0 NA
15-85401331-A-G p.Gln1323Arg missense ALPK3 268 80958 0.00331036 40479 4 0.00786093
15-85401343-G-A p.Gly1327Glu missense ALPK3 2 81240 2.46184E-5 40620 0 1.11535E-5
15-85401363-A-G p.Ser1334Gly missense ALPK3 1 81616 1.22525E-5 40808 0 NA
15-85401367-T-C p.Ile1335Thr missense ALPK3 6 81692 7.34466E-5 40846 0 4.2203E-5
15-85401370-C-T p.Ala1336Val missense ALPK3 197 81682 0.00241179 40841 2 0.00813517
15-85401387-G-A p.Glu1342Lys missense ALPK3 1 81918 1.22073E-5 40959 0 9.90629E-6
15-85401395-G-T p.Lys1344Asn missense ALPK3 1 81982 1.21978E-5 40991 0 NA
15-85401400-C-T p.Pro1346Leu missense ALPK3 1 82042 1.21889E-5 41021 0 NA
15-85401408-G-A p.Ala1349Thr missense ALPK3 2 81998 2.43908E-5 40999 0 NA
15-85401419-T-C p.Gly1352Gly synonymous ALPK3 66568 80938 0.822457 40469 27372 0.841263
15-85401420-C-T p.Leu1353Phe missense ALPK3 3 82070 3.65542E-5 41035 0 1.62413E-5
15-85401423-C-G p.Pro1354Ala missense ALPK3 3 82106 3.65381E-5 41053 0 3.19489E-5
15-85401424-C-G p.Pro1354Arg missense ALPK3 1 82096 1.21809E-5 41048 0 NA
15-85401425-G-A p.Pro1354Pro synonymous ALPK3 7 82076 8.52868E-5 41038 0 2.02828E-5
15-85401433-C-T p.Thr1357Ile missense ALPK3 1 82088 1.2182E-5 41044 0 4.05127E-6
15-85401435-C-T p.Pro1358Ser missense ALPK3 2 82080 2.43665E-5 41040 0 3.06304E-5
15-85401438-G-A p.Glu1359Lys missense ALPK3 1 82104 1.21797E-5 41052 0 1.03924E-5
15-85401441-G-A p.Glu1360Lys missense ALPK3 1 82108 1.21791E-5 41054 0 6.25E-4
15-85401443-A-G p.Glu1360Glu synonymous ALPK3 1 82118 1.21776E-5 41059 0 NA
15-85401447-G-A p.Ala1362Thr missense ALPK3 2 82072 2.43688E-5 41036 0 NA
15-85401454-G-C p.Gly1364Ala missense ALPK3 13 82020 1.58498E-4 41010 0 8.31018E-5
15-85401457-C-T p.Ala1365Val missense ALPK3 12 81968 1.46399E-4 40984 0 5.04541E-4
15-85401460-G-A p.Arg1366Gln missense ALPK3 2 81984 2.4395E-5 40992 0 NA
15-85401490-C-A p.Ala1376Glu missense ALPK3 1 81830 1.22205E-5 40915 0 7.02519E-5
15-85401491-A-G p.Ala1376Ala synonymous ALPK3 1 81834 1.22199E-5 40917 0 NA
15-85401500-C-T p.Asp1379Asp synonymous ALPK3 14 81748 1.71258E-4 40874 0 6.07339E-4
15-85401500-C-G p.Asp1379Glu missense ALPK3 5 81748 6.11636E-5 40874 0 6.25E-4
15-85401501-G-A p.Gly1380Arg missense ALPK3 1 81780 1.22279E-5 40890 0 6.27773E-5
15-85401504-G-A p.Glu1381Lys missense ALPK3 1 81776 1.22285E-5 40888 0 8.6408E-5
15-85401530-G-A p.Glu1389Glu synonymous ALPK3 1 81764 1.22303E-5 40882 0 NA
15-85401538-C-T p.Thr1392Met missense ALPK3 2 81750 2.44648E-5 40875 0 4.17159E-4
15-85401550-G-A p.Arg1396Gln missense ALPK3 7 81756 8.56206E-5 40878 0 1.71895E-4
15-85401550-G-C p.Arg1396Pro missense ALPK3 1 81756 1.22315E-5 40878 0 2.88111E-4
15-85401553-G-A p.Gly1397Glu missense ALPK3 1 81784 1.22273E-5 40892 0 0.00125156
15-85401554-G-A p.Gly1397Gly synonymous ALPK3 2 81782 2.44553E-5 40891 0 3.19939E-5
15-85401565-G-A p.Ser1401Asn missense ALPK3 5 81800 6.11247E-5 40900 0 0.0015448
15-85401572-G-A p.Val1403Val synonymous ALPK3 1 81774 1.22288E-5 40887 0 0.00257467
15-85401583-C-T p.Pro1407Leu missense ALPK3 1 81748 1.22327E-5 40874 0 NA
15-85401588-A-C p.Thr1409Pro missense ALPK3 1 81698 1.22402E-5 40849 0 1.2636E-5
15-85401593-A-G p.Pro1410Pro synonymous ALPK3 72 81684 8.81446E-4 40842 0 0.00121421
15-85401597-C-T p.Arg1412Trp missense ALPK3 1337 81618 0.0163812 40809 16 0.0206215
15-85401598-G-A p.Arg1412Gln missense ALPK3 4 81674 4.89752E-5 40837 0 4.43915E-5
15-85401598-G-T p.Arg1412Leu missense ALPK3 1 81674 1.22438E-5 40837 0 NA
15-85401604-G-C p.Arg1414Thr missense ALPK3 1 81684 1.22423E-5 40842 0 NA
15-85401606-C-T p.Arg1415Cys missense ALPK3 3 81632 3.67503E-5 40816 0 0.00187735
15-85401606-C-A p.Arg1415Ser missense ALPK3 1 81632 1.22501E-5 40816 0 NA
15-85401607-G-A p.Arg1415His missense ALPK3 1 81606 1.2254E-5 40803 0 3.19673E-5
15-85401608-C-T p.Arg1415Arg synonymous ALPK3 2 81618 2.45044E-5 40809 0 3.19346E-5
15-85401609-T-TC p.Thr1418fs frameshift ALPK3 1 81608 1.22537E-5 40804 0 NA
15-85401611-C-A p.Ser1416Ser synonymous ALPK3 4 81640 4.89956E-5 40820 0 3.19448E-4
15-85401613-C-T p.Pro1417Leu missense ALPK3 2 81626 2.4502E-5 40813 0 3.19509E-5
15-85401616-C-T p.Thr1418Met missense ALPK3 9 81572 1.10332E-4 40786 0 6.38937E-5
15-85401617-G-T p.Thr1418Thr synonymous ALPK3 1 81546 1.2263E-5 40773 0 NA
15-85401631-C-T p.Ala1423Val missense ALPK3 13 81544 1.59423E-4 40772 0 1.91632E-4
15-85401632-G-A p.Ala1423Ala synonymous ALPK3 6 81554 7.35709E-5 40777 0 8.23723E-4
15-85401651-C-G p.Arg1430Gly missense ALPK3 8 81474 9.81908E-5 40737 0 3.19632E-5
15-85401651-C-T p.Arg1430Trp missense ALPK3 9 81474 1.10465E-4 40737 0 0.00306748
15-85401652-G-A p.Arg1430Gln missense ALPK3 4 81496 4.90822E-5 40748 0 2.68649E-4
15-85401656-AGAG-A p.Glu1434del conservative_inframe_deletion ALPK3 3 81504 3.6808E-5 40752 0 NA
15-85401671-G-A p.Ala1436Ala synonymous ALPK3 32 81274 3.9373E-4 40637 0 4.03812E-4
15-85401673-C-T p.Ala1437Val missense ALPK3 10 81210 1.23138E-4 40605 0 1.19408E-4
15-85401680-C-T p.Asp1439Asp synonymous ALPK3 5065 80800 0.0626856 40400 153 0.10641
15-85401689-C-T p.Pro1442Pro synonymous ALPK3 5 81136 6.16249E-5 40568 0 1.27869E-4
15-85401701-C-T p.Ala1446Ala synonymous ALPK3 2 80976 2.46987E-5 40488 0 6.21736E-5
15-85401702-G-A p.Gly1447Ser missense ALPK3 4 80946 4.94157E-5 40473 0 3.06166E-5
15-85401704-C-T p.Gly1447Gly synonymous ALPK3 7 80866 8.6563E-5 40433 0 3.31985E-4
15-85401705-G-A p.Gly1448Ser missense ALPK3 9 80850 1.11317E-4 40425 0 2.34343E-4
15-85401719-G-A p.Glu1452Glu synonymous ALPK3 1 80634 1.24017E-5 40317 0 NA
15-85401721-T-C p.Val1453Ala missense ALPK3 1 80494 1.24233E-5 40247 0 3.21357E-5
15-85401725-C-T p.Ala1454Ala synonymous ALPK3 3 80290 3.73646E-5 40145 0 4.71698E-5
15-85401726-C-T p.Leu1455Leu synonymous ALPK3 1 80302 1.2453E-5 40151 0 1.16241E-4
15-85401746-G-A p.Glu1461Glu synonymous ALPK3 1 78808 1.26891E-5 39404 0 NA
15-85401755-C-G p.Ala1464Ala synonymous ALPK3 15 78010 1.92283E-4 39005 0 4.47084E-4
15-85401786-G-A p.Ala1475Thr missense+splice_region ALPK3 1 75120 1.3312E-5 37560 0 1.46899E-5
15-85402471-C-T c.4424-3C>T splice_region ALPK3 3 83180 3.60664E-5 41590 0 1.32113E-4
15-85402477-C-T p.Pro1476Leu missense ALPK3 2 83224 2.40315E-5 41612 0 NA
15-85402488-C-T p.Arg1480Trp missense ALPK3 31 83244 3.72399E-4 41622 0 0.0015121
15-85402489-G-A p.Arg1480Gln missense ALPK3 2 83254 2.40229E-5 41627 0 6.37552E-5
15-85402490-G-C p.Arg1480Arg synonymous ALPK3 1 83258 1.20109E-5 41629 0 1.64984E-5
15-85402497-C-T p.Arg1483Trp missense ALPK3 5 83258 6.00543E-5 41629 0 6.25E-4
15-85402503-G-A p.Glu1485Lys missense ALPK3 1 83262 1.20103E-5 41631 0 NA
15-85402519-C-T p.Ala1490Val missense ALPK3 6 83274 7.20513E-5 41637 0 2.47451E-5
15-85402520-C-T p.Ala1490Ala synonymous ALPK3 4 83276 4.8033E-5 41638 0 3.18756E-5
15-85402523-C-T p.Ser1491Ser synonymous ALPK3 10 83272 1.20088E-4 41636 0 0.00100705
15-85402548-T-C p.Phe1500Leu missense ALPK3 6 83260 7.20634E-5 41630 0 6.37918E-5
15-85402555-A-G p.Asn1502Ser missense ALPK3 2 83260 2.40211E-5 41630 0 6.37592E-5
15-85402558-T-C p.Ile1503Thr missense ALPK3 1 83266 1.20097E-5 41633 0 3.9776E-6
15-85402559-T-A p.Ile1503Ile synonymous ALPK3 1 83266 1.20097E-5 41633 0 NA
15-85402568-C-T p.Asp1506Asp synonymous ALPK3 1 83242 1.20132E-5 41621 0 3.97766E-6
15-85402595-G-C p.Gln1515His missense ALPK3 1 83184 1.20215E-5 41592 0 3.18512E-5
15-85402596-C-T p.Arg1516Cys missense ALPK3 3 83182 3.60655E-5 41591 0 9.5584E-5
15-85402597-G-A p.Arg1516His missense ALPK3 12 83174 1.44276E-4 41587 2 2.07462E-4
15-85402606-G-A p.Gly1519Asp missense ALPK3 4 83154 4.81035E-5 41577 0 2.49464E-5
15-85402607-C-T p.Gly1519Gly synonymous ALPK3 1 83144 1.20273E-5 41572 0 NA
15-85402608-G-A p.Glu1520Lys missense ALPK3 4 83156 4.81024E-5 41578 0 5.17512E-5
15-85402610-G-A p.Glu1520Glu synonymous ALPK3 3906 83076 0.0470172 41538 139 0.0620377
15-85403007-C-T p.Ser1524Ser splice_region+synonymous ALPK3 2 82324 2.42943E-5 41162 0 1.62454E-5
15-85403008-G-A p.Ala1525Thr missense+splice_region ALPK3 2 82352 2.4286E-5 41176 0 3.18634E-5
15-85403011-G-C p.Gly1526Arg missense ALPK3 1 82458 1.21274E-5 41229 0 6.37186E-5
15-85403015-A-T p.Asp1527Val missense ALPK3 1 82470 1.21256E-5 41235 0 NA
15-85403022-G-T p.Gly1529Gly synonymous ALPK3 1 82554 1.21133E-5 41277 0 NA
15-85403025-G-T p.Pro1530Pro synonymous ALPK3 4 82614 4.84179E-5 41307 0 2.68164E-5
15-85403025-G-A p.Pro1530Pro synonymous ALPK3 1 82614 1.21045E-5 41307 0 2.41484E-5
15-85403027-C-T p.Ala1531Val missense ALPK3 1 82620 1.21036E-5 41310 0 6.20743E-5
15-85403028-G-A p.Ala1531Ala synonymous ALPK3 2 82656 2.41967E-5 41328 0 8.77408E-6
15-85403041-G-A p.Val1536Met missense ALPK3 2 82800 2.41546E-5 41400 0 3.99821E-6
15-85403055-C-T p.Pro1540Pro synonymous ALPK3 1 82912 1.2061E-5 41456 0 6.25E-4
15-85403064-C-T p.Cys1543Cys synonymous ALPK3 6 82966 7.23188E-5 41483 0 1.16583E-4
15-85403065-G-A p.Gly1544Ser missense ALPK3 1 82990 1.20496E-5 41495 0 3.18695E-5
15-85403074-C-T p.Arg1547Trp missense ALPK3 16 83026 1.92711E-4 41513 0 7.16521E-5
15-85403078-G-A p.Cys1548Tyr missense ALPK3 1 83042 1.20421E-5 41521 0 8.29352E-6
15-85403081-C-T p.Thr1549Ile missense ALPK3 6 83068 7.223E-5 41534 0 7.56165E-5
15-85403084-T-C p.Ile1550Thr missense ALPK3 2 83084 2.4072E-5 41542 0 NA
15-85403097-C-T p.His1554His synonymous ALPK3 35 83090 4.2123E-4 41545 0 3.55854E-4
15-85403098-G-A p.Gly1555Ser missense ALPK3 4 83084 4.8144E-5 41542 0 3.18674E-5
15-85403102-C-T p.Ser1556Leu missense ALPK3 2 83082 2.40726E-5 41541 0 6.37471E-5
15-85403104-G-A p.Ala1557Thr missense ALPK3 61 83058 7.34427E-4 41529 0 0.00159327
15-85403105-C-A p.Ala1557Asp missense ALPK3 1457 83032 0.0175475 41516 14 0.0178105
15-85403105-C-T p.Ala1557Val missense ALPK3 1 83056 1.20401E-5 41528 0 NA
15-85403112-C-T p.Thr1559Thr synonymous ALPK3 16 83050 1.92655E-4 41525 0 3.82385E-4
15-85403113-G-A p.Asp1560Asn missense ALPK3 2 83030 2.40877E-5 41515 0 6.25E-4
15-85403122-CTC-TTT p.Leu1563Phe missense ALPK3 4 83054 4.81614E-5 41527 0 NA
15-85403132-A-T p.Glu1566Val missense+splice_region ALPK3 1 83020 1.20453E-5 41510 0 NA
15-85403133-G-C p.Glu1566Asp missense+splice_region ALPK3 18 83032 2.16784E-4 41516 0 9.55604E-5
15-85403267-GTGT-G p.Leu1568del disruptive_inframe_deletion ALPK3 3 82906 3.61856E-5 41453 0 NA
15-85403270-T-A p.Leu1568Met missense+splice_region ALPK3 3 82898 3.61891E-5 41449 0 3.18878E-5
15-85403289-G-T p.Arg1574Ile missense ALPK3 1 82712 1.20901E-5 41356 0 NA
15-85403298-G-A p.Gly1577Asp missense ALPK3 1 82624 1.2103E-5 41312 0 8.24565E-6
15-85403307-T-C c.4735+4T>C splice_region ALPK3 1 82572 1.21106E-5 41286 0 4.7743E-5
15-85403309-G-A c.4735+6G>A splice_region ALPK3 1 82530 1.21168E-5 41265 0 3.9794E-6
15-85405865-G-A c.4736-1G>A splice_acceptor ALPK3 1 83122 1.20305E-5 41561 0 3.18573E-5
15-85405886-AC-A p.Pro1587fs frameshift ALPK3 1 83176 1.20227E-5 41588 0 8.02015E-6
15-85405888-C-T p.Thr1586Thr synonymous ALPK3 3 83194 3.60603E-5 41597 0 3.18796E-5
15-85405892-A-G p.Met1588Val missense ALPK3 10 83218 1.20166E-4 41609 0 6.25782E-4
15-85405894-G-A p.Met1588Ile missense ALPK3 1 83218 1.20166E-5 41609 0 8.29683E-6
15-85405901-G-A p.Ala1591Thr missense ALPK3 1 83236 1.2014E-5 41618 0 3.18532E-5
15-85405903-T-G p.Ala1591Ala synonymous ALPK3 1 83222 1.20161E-5 41611 0 1.1937E-5
15-85405909-T-A p.Gly1593Gly synonymous ALPK3 2 83222 2.40321E-5 41611 0 5.03525E-4
15-85405920-C-G p.Ser1597Cys missense ALPK3 4 83244 4.80515E-5 41622 0 4.77304E-5
15-85405927-C-T p.Cys1599Cys synonymous ALPK3 1 83248 1.20123E-5 41624 0 3.97738E-6
15-85405928-T-G p.Trp1600Gly missense ALPK3 1 83258 1.20109E-5 41629 0 9.55901E-5
15-85405929-G-C p.Trp1600Ser missense ALPK3 2 83248 2.40246E-5 41624 0 NA
15-85405929-G-T p.Trp1600Leu missense ALPK3 1 83248 1.20123E-5 41624 0 2.47313E-5
15-85405933-G-A p.Gly1601Gly synonymous ALPK3 12 83250 1.44144E-4 41625 0 9.55657E-5
15-85405934-G-T p.Asp1602Tyr missense ALPK3 1 83242 1.20132E-5 41621 0 3.97716E-6
15-85405936-C-G p.Asp1602Glu missense ALPK3 3 83218 3.60499E-5 41609 0 3.18634E-5
15-85405950-G-A p.Arg1607Gln missense ALPK3 1 83246 1.20126E-5 41623 0 NA
15-85405959-G-A p.Ser1610Asn missense ALPK3 3 83256 3.60334E-5 41628 0 3.9769E-6
15-85405960-C-T p.Ser1610Ser synonymous ALPK3 1 83252 1.20117E-5 41626 0 6.37755E-5
15-85405971-G-A p.Arg1614Gln missense ALPK3 7 83230 8.41043E-5 41615 0 1.64894E-5
15-85405977-G-A p.Gly1616Asp missense ALPK3 1 83240 1.20135E-5 41620 0 8.24443E-6
15-85405979-G-A p.Gly1617Arg missense ALPK3 1 83240 1.20135E-5 41620 0 3.97782E-6
15-85405980-G-GCATGAGAATCACTTGAACGCAGAGGC p.Tyr1618fs frameshift ALPK3 1 83226 1.20155E-5 41613 0 NA
15-85405987-G-A p.Gly1619Gly synonymous ALPK3 8 83240 9.61076E-5 41620 0 1.19341E-5
15-85405995-T-C p.Leu1622Pro missense ALPK3 19075 82908 0.230074 41454 2384 0.265625
15