Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-1710663-G-GCCCAAGGTCCCGGAGGCTATGGCAGCGGCTACCATCGTGCACGACACGTC c.-20+1_-20+2insCCCAAGGTCCCGGAGGCTATGGCAGCGGCTACCATCGTGCACGACACGTC splice_donor AKAP17A 6 54 0.111111 27 3 NA
X-1712329-T-C c.-19-8T>C splice_region AKAP17A 9 81298 1.10704E-4 40649 0 4.51212E-5
X-1712330-GT-G c.-19-6delT splice_region AKAP17A 2 81308 2.45978E-5 40654 0 NA
X-1712334-C-A c.-19-3C>A splice_region AKAP17A 1 81388 1.22868E-5 40694 0 2.85156E-5
X-1712336-G-C c.-19-1G>C splice_acceptor AKAP17A 2 81424 2.45628E-5 40712 0 NA
X-1712348-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain AKAP17A 2 81610 2.45068E-5 40805 0 8.49372E-6
X-1712363-C-T p.Ala3Val missense AKAP17A 1 81692 1.22411E-5 40846 0 3.18959E-5
X-1712364-G-A p.Ala3Ala synonymous AKAP17A 2091 81642 0.0256118 40821 33 0.0267891
X-1712368-A-G p.Thr5Ala missense AKAP17A 1 81716 1.22375E-5 40858 0 3.18817E-5
X-1712377-C-T p.His8Tyr missense AKAP17A 3 81750 3.66972E-5 40875 0 6.78063E-5
X-1712379-C-T p.His8His synonymous AKAP17A 2 81750 2.44648E-5 40875 0 NA
X-1712384-C-T p.Thr10Met missense AKAP17A 2 81766 2.446E-5 40883 0 1.19591E-5
X-1712385-G-A p.Thr10Thr synonymous AKAP17A 37 81766 4.52511E-4 40883 0 3.02844E-4
X-1712394-C-T p.Ala13Ala synonymous AKAP17A 1 81774 1.22288E-5 40887 0 7.96889E-6
X-1712395-G-A p.Val14Met missense AKAP17A 1 81776 1.22285E-5 40888 0 3.18552E-5
X-1712400-G-A p.Glu15Glu synonymous AKAP17A 1 81774 1.22288E-5 40887 0 NA
X-1712408-C-G p.Pro18Arg missense AKAP17A 1 81768 1.22297E-5 40884 0 1.64997E-5
X-1712408-C-T p.Pro18Leu missense AKAP17A 1 81768 1.22297E-5 40884 0 NA
X-1712409-T-C p.Pro18Pro synonymous AKAP17A 23 81764 2.81297E-4 40882 0 0.00149682
X-1712415-C-T p.Tyr20Tyr synonymous AKAP17A 8 81754 9.78545E-5 40877 0 6.25E-4
X-1712416-G-A p.Gly21Ser missense AKAP17A 1 81744 1.22333E-5 40872 0 7.96629E-6
X-1712417-G-A p.Gly21Asp missense AKAP17A 2 81732 2.44702E-5 40866 0 8.25042E-6
X-1712418-C-T p.Gly21Gly synonymous AKAP17A 1 81736 1.22345E-5 40868 0 8.25328E-6
X-1712423-A-T p.Tyr23Phe missense AKAP17A 4 81438 4.91171E-5 40719 0 0.0165017
X-1712434-A-G p.Ile27Val missense AKAP17A 1 81574 1.22588E-5 40787 0 NA
X-1712436-C-T p.Ile27Ile synonymous AKAP17A 1 81582 1.22576E-5 40791 0 3.18512E-5
X-1712451-C-T p.Ile32Ile synonymous AKAP17A 1 81610 1.22534E-5 40805 0 1.6497E-5
X-1712454-C-T p.Ser33Ser synonymous AKAP17A 2 81590 2.45128E-5 40795 0 5.77415E-5
X-1712463-C-G p.Leu36Leu synonymous AKAP17A 1 81650 1.22474E-5 40825 0 NA
X-1712463-C-T p.Leu36Leu synonymous AKAP17A 1 81650 1.22474E-5 40825 0 8.24797E-6
X-1712466-G-A p.Pro37Pro synonymous AKAP17A 1 81644 1.22483E-5 40822 0 6.37064E-5
X-1712470-C-T p.Leu39Leu synonymous AKAP17A 1 81662 1.22456E-5 40831 0 NA
X-1712472-G-T p.Leu39Leu synonymous AKAP17A 1 81674 1.22438E-5 40837 0 NA
X-1712481-G-A p.Pro42Pro synonymous AKAP17A 739 81694 0.00904595 40847 13 0.016466
X-1712498-A-G p.Asn48Ser missense AKAP17A 2 81716 2.4475E-5 40858 0 8.24389E-6
X-1712517-G-A p.Arg54Arg synonymous AKAP17A 1 81738 1.22342E-5 40869 0 NA
X-1712526-C-T p.Gly57Gly synonymous AKAP17A 1 81764 1.22303E-5 40882 0 3.982E-6
X-1712541-C-T p.His62His synonymous AKAP17A 1 81784 1.22273E-5 40892 0 NA
X-1712553-G-A p.Thr66Thr synonymous AKAP17A 15 81806 1.83361E-4 40903 0 8.14332E-4
X-1712567-A-G p.Lys71Arg missense AKAP17A 1 81828 1.22208E-5 40914 0 1.64785E-5
X-1712574-C-T p.Thr73Thr synonymous AKAP17A 1 81826 1.22211E-5 40913 0 3.98121E-6
X-1712584-A-G p.Ile77Val missense AKAP17A 1 81830 1.22205E-5 40915 0 NA
X-1712592-C-T p.Phe79Phe synonymous AKAP17A 2 81824 2.44427E-5 40912 0 8.36054E-5
X-1712593-G-A p.Glu80Lys missense AKAP17A 1 81826 1.22211E-5 40913 0 NA
X-1712595-G-T p.Glu80Asp missense AKAP17A 1 81830 1.22205E-5 40915 0 NA
X-1712598-G-A p.Gly81Gly synonymous AKAP17A 11 81830 1.34425E-4 40915 0 0.001875
X-1712619-G-T p.Leu88Leu synonymous AKAP17A 17 81822 2.07768E-4 40911 0 6.37024E-5
X-1712624-A-G p.Lys90Arg missense AKAP17A 2 81810 2.44469E-5 40905 0 8.1103E-4
X-1712639-G-A p.Cys95Tyr missense AKAP17A 2 81770 2.44588E-5 40885 0 NA
X-1712646-C-T p.Asp97Asp synonymous AKAP17A 13 81728 1.59064E-4 40864 0 2.42883E-4
X-1712649-C-T p.Gly98Gly synonymous AKAP17A 4 81716 4.895E-5 40858 0 8.24063E-6
X-1712667-C-T p.Ser104Ser synonymous AKAP17A 1 81580 1.22579E-5 40790 0 1.64978E-5
X-1712676-C-A p.Ser107Ser synonymous AKAP17A 1 81494 1.22708E-5 40747 0 2.47615E-5
X-1712693-G-A p.Arg113His missense AKAP17A 1 81290 1.23016E-5 40645 0 3.31807E-5
X-1712694-C-T p.Arg113Arg synonymous AKAP17A 11 81280 1.35335E-4 40640 0 4.72943E-4
X-1712695-G-A p.Ala114Thr missense AKAP17A 1 81262 1.23059E-5 40631 0 NA
X-1712697-G-A p.Ala114Ala synonymous AKAP17A 1 81264 1.23056E-5 40632 0 6.37389E-5
X-1712700-C-G p.Ala115Ala synonymous AKAP17A 1 81276 1.23038E-5 40638 0 NA
X-1712700-C-T p.Ala115Ala synonymous AKAP17A 2 81276 2.46075E-5 40638 0 3.18654E-5
X-1712703-G-A p.Glu116Glu synonymous AKAP17A 2 81306 2.45984E-5 40653 0 8.31864E-6
X-1712712-C-T p.Ile119Ile synonymous AKAP17A 2 81376 2.45773E-5 40688 0 8.35366E-6
X-1712724-C-T p.Thr123Thr synonymous AKAP17A 1 81550 1.22624E-5 40775 0 NA
X-1712726-G-A p.Arg124His missense AKAP17A 1 81514 1.22678E-5 40757 0 8.34892E-6
X-1712728-C-A p.His125Asn missense AKAP17A 1 81548 1.22627E-5 40774 0 NA
X-1712731-G-A p.Asp126Asn missense AKAP17A 2 81696 2.4481E-5 40848 0 1.19877E-5
X-1712749-C-T p.Arg132Cys missense AKAP17A 2 81740 2.44678E-5 40870 0 4.00019E-6
X-1712751-C-T p.Arg132Arg synonymous AKAP17A 3 81736 3.67035E-5 40868 0 1.66842E-5
X-1712761-G-A p.Asp136Asn missense AKAP17A 1 81740 1.22339E-5 40870 0 8.3414E-6
X-1712770-G-A p.Glu139Lys missense AKAP17A 3 81740 3.67017E-5 40870 0 NA
X-1712781-G-A p.Pro142Pro synonymous AKAP17A 56 81746 6.85049E-4 40873 0 0.0013059
X-1712793-G-A p.Pro146Pro synonymous AKAP17A 1 81738 1.22342E-5 40869 0 NA
X-1712825-A-G p.Lys157Arg missense AKAP17A 2 81754 2.44636E-5 40877 0 1.59892E-4
X-1712832-C-T p.Phe159Phe synonymous AKAP17A 5 81748 6.11636E-5 40874 0 6.36983E-5
X-1712833-G-A p.Ala160Thr missense AKAP17A 3 81736 3.67035E-5 40868 0 1.21716E-5
X-1712845-T-A p.Ser164Thr missense AKAP17A 1 81760 1.22309E-5 40880 0 1.22899E-5
X-1712846-C-T p.Ser164Leu missense AKAP17A 2 81772 2.44582E-5 40886 0 3.38874E-5
X-1712847-G-A p.Ser164Ser synonymous AKAP17A 1 81768 1.22297E-5 40884 0 NA
X-1712851-T-C p.Ser166Pro missense AKAP17A 1 81768 1.22297E-5 40884 0 1.69448E-5
X-1712853-C-T p.Ser166Ser synonymous AKAP17A 110 81762 0.00134537 40881 1 0.00299497
X-1712871-C-T p.Asp172Asp synonymous AKAP17A 4 81792 4.89045E-5 40896 0 1.27742E-4
X-1712872-G-A p.Val173Ile missense AKAP17A 2 81792 2.44523E-5 40896 0 2.48653E-5
X-1712879-T-C p.Val175Ala missense AKAP17A 1 81800 1.22249E-5 40900 0 8.26521E-6
X-1712881-A-C p.Lys176Gln missense AKAP17A 2 81814 2.44457E-5 40907 0 NA
X-1712895-G-T p.Lys180Asn missense AKAP17A 1 81818 1.22222E-5 40909 0 NA
X-1712913-T-C p.Asn186Asn synonymous AKAP17A 1 81814 1.22228E-5 40907 0 NA
X-1712931-G-A p.Leu192Leu synonymous AKAP17A 1 81824 1.22214E-5 40912 0 8.41283E-6
X-1712940-C-T p.Tyr195Tyr synonymous AKAP17A 166 81814 0.00202899 40907 1 0.005
X-1712949-G-A p.Glu198Glu synonymous AKAP17A 12 81812 1.46678E-4 40906 1 0.00328677
X-1712954-C-T p.Thr200Met missense AKAP17A 2 81804 2.44487E-5 40902 0 2.39946E-5
X-1712955-G-A p.Thr200Thr synonymous AKAP17A 6 81796 7.33532E-5 40898 0 5.07978E-4
X-1712960-G-A p.Arg202His missense AKAP17A 2 81784 2.44547E-5 40892 0 4.1551E-5
X-1712964-C-G p.Asn203Lys missense AKAP17A 1 81802 1.22246E-5 40901 0 8.30289E-6
X-1712982-C-T p.Phe209Phe synonymous AKAP17A 6 81814 7.33371E-5 40907 0 9.1194E-5
X-1712982-C-CG p.His212fs frameshift AKAP17A 1 81812 1.22231E-5 40906 0 3.31614E-5
X-1712988-G-A p.Gly211Gly synonymous AKAP17A 3 81804 3.6673E-5 40902 0 2.48423E-5
X-1712991-C-G p.His212Gln missense AKAP17A 5 81814 6.11142E-5 40907 0 NA
X-1712992-T-C p.Leu213Leu synonymous AKAP17A 1 81820 1.2222E-5 40910 0 3.9874E-6
X-1713000-C-T p.Phe215Phe synonymous AKAP17A 12 81808 1.46685E-4 40904 0 8.22368E-4
X-1713019-C-T p.Arg222Cys missense AKAP17A 2 81784 2.44547E-5 40892 0 3.31296E-5
X-1713020-G-A p.Arg222His missense AKAP17A 1 81784 1.22273E-5 40892 0 8.28349E-6
X-1713021-C-T p.Arg222Arg synonymous AKAP17A 43808 80010 0.547532 40005 11968 0.966474
X-1713034-T-C p.Phe227Leu missense AKAP17A 1 81768 1.22297E-5 40884 0 NA
X-1713039-C-T p.Ile228Ile synonymous AKAP17A 83 81750 0.00101529 40875 0 0.00264298
X-1713040-C-G p.Gln229Glu missense AKAP17A 2 81750 2.44648E-5 40875 0 1.68962E-5
X-1713051-C-G p.Ser232Arg missense AKAP17A 5 81712 6.11905E-5 40856 0 9.55657E-5
X-1713051-C-T p.Ser232Ser synonymous AKAP17A 1 81712 1.22381E-5 40856 0 6.25E-4
X-1713054-C-T p.Ala233Ala synonymous AKAP17A 6 81722 7.34196E-5 40861 0 1.07257E-4
X-1713060-C-T p.Arg235Arg synonymous AKAP17A 15 81708 1.83581E-4 40854 0 1.03867E-4
X-1713072-C-T p.Leu239Leu synonymous AKAP17A 9 81690 1.10173E-4 40845 0 3.82287E-4
X-1713080-A-G p.Lys242Arg missense AKAP17A 1 81660 1.22459E-5 40830 0 NA
X-1713084-C-T p.Gly243Gly synonymous AKAP17A 1 81616 1.22525E-5 40808 0 3.55284E-5
X-1713084-C-G p.Gly243Gly synonymous AKAP17A 1 81616 1.22525E-5 40808 0 NA
X-1713085-G-A p.Glu244Lys missense AKAP17A 1 81624 1.22513E-5 40812 0 9.15927E-6
X-1713087-G-A p.Glu244Glu synonymous AKAP17A 1 81620 1.22519E-5 40810 0 3.18552E-5
X-1713091-G-A p.Gly246Ser missense AKAP17A 2 81558 2.45224E-5 40779 0 1.42704E-5
X-1713093-C-T p.Gly246Gly synonymous AKAP17A 5 81546 6.13151E-5 40773 0 2.86642E-4
X-1713099-C-T p.Ala248Ala synonymous AKAP17A 16 81442 1.96459E-4 40721 0 1.80976E-4
X-1713105-C-G p.Ala250Ala synonymous AKAP17A 1 81430 1.22805E-5 40715 0 9.08282E-6
X-1713111-C-T p.Asn252Asn synonymous AKAP17A 1 81374 1.22889E-5 40687 0 2.63669E-5
X-1713124-C-G c.762+7C>G splice_region AKAP17A 1 81120 1.23274E-5 40560 0 3.18634E-5
X-1714294-C-G p.Thr260Thr synonymous AKAP17A 1 81940 1.22041E-5 40970 0 3.18512E-5
X-1714300-C-G p.His262Gln missense AKAP17A 2 81934 2.44099E-5 40967 0 NA
X-1714310-G-C p.Ala266Pro missense AKAP17A 1 81942 1.22038E-5 40971 0 NA
X-1714316-A-G p.Ile268Val missense AKAP17A 1 81960 1.22011E-5 40980 0 2.47093E-5
X-1714316-A-T p.Ile268Phe missense AKAP17A 1 81960 1.22011E-5 40980 0 NA
X-1714323-A-T p.Lys270Met missense AKAP17A 1 81940 1.22041E-5 40970 0 NA
X-1714323-A-G p.Lys270Arg missense AKAP17A 1 81940 1.22041E-5 40970 0 3.98134E-6
X-1714333-G-A p.Leu273Leu synonymous AKAP17A 1 81928 1.22058E-5 40964 0 7.96254E-6
X-1714339-G-A p.Arg275Arg synonymous AKAP17A 1 81924 1.22064E-5 40962 0 8.23642E-6
X-1714351-G-C p.Gln279His missense AKAP17A 1 81926 1.22061E-5 40963 0 NA
X-1714364-C-G p.Gln284Glu missense AKAP17A 1 81916 1.22076E-5 40958 0 1.64734E-5
X-1714365-AAAGAG-A p.Glu286fs frameshift AKAP17A 1 81920 1.2207E-5 40960 0 NA
X-1714381-G-A p.Lys289Lys synonymous AKAP17A 3 81912 3.66247E-5 40956 0 2.22873E-4
X-1714390-G-T p.Glu292Asp missense AKAP17A 1 81898 1.22103E-5 40949 0 8.23669E-6
X-1714393-G-A p.Lys293Lys synonymous AKAP17A 2 81898 2.44206E-5 40949 0 3.18431E-5
X-1714394-G-A p.Glu294Lys missense AKAP17A 2 81898 2.44206E-5 40949 0 NA
X-1714398-CGGA-C p.Glu297del conservative_inframe_deletion AKAP17A 1 81886 1.22121E-5 40943 0 NA
X-1714398-C-T p.Ala295Val missense AKAP17A 4 81886 4.88484E-5 40943 0 4.94226E-5
X-1714399-G-A p.Ala295Ala synonymous AKAP17A 38 81878 4.64105E-4 40939 1 7.73395E-4
X-1714408-G-A p.Arg298Arg synonymous AKAP17A 1 81896 1.22106E-5 40948 0 3.98159E-6
X-1714413-G-A p.Arg300Gln missense AKAP17A 3 81868 3.66444E-5 40934 0 1.15329E-4
X-1714416-C-T p.Ala301Val missense AKAP17A 34 81852 4.15384E-4 40926 0 2.7077E-4
X-1714417-G-A p.Ala301Ala synonymous AKAP17A 7 81856 8.5516E-5 40928 0 6.37024E-5
X-1714430-C-G c.911+5C>G splice_region AKAP17A 1 81802 1.22246E-5 40901 0 3.98241E-6
X-1718081-A-G c.912-4A>G splice_region AKAP17A 1 81250 1.23077E-5 40625 0 8.29352E-6
X-1718097-G-C p.Glu308Asp missense AKAP17A 1 81408 1.22838E-5 40704 0 NA
X-1718106-G-C p.Glu311Asp missense AKAP17A 247 81468 0.00303187 40734 3 0.0134175
X-1718109-G-A p.Leu312Leu synonymous AKAP17A 1 81498 1.22702E-5 40749 0 NA
X-1718114-G-A p.Arg314Gln missense AKAP17A 25 81526 3.06651E-4 40763 0 3.75419E-4
X-1718116-G-C p.Glu315Gln missense AKAP17A 2 81534 2.45296E-5 40767 0 2.51383E-5
X-1718118-G-C p.Glu315Asp missense AKAP17A 15 81546 1.83945E-4 40773 0 1.17328E-4
X-1718118-G-A p.Glu315Glu synonymous AKAP17A 10 81546 1.2263E-4 40773 0 1.59205E-4
X-1718123-A-C p.Lys317Thr missense AKAP17A 1 81584 1.22573E-5 40792 0 NA
X-1718130-A-G p.Glu319Glu synonymous AKAP17A 1 81596 1.22555E-5 40798 0 NA
X-1718133-G-A p.Glu320Glu synonymous AKAP17A 3 81610 3.67602E-5 40805 0 2.5481E-4
X-1718137-C-T p.Leu322Phe missense AKAP17A 1 81612 1.22531E-5 40806 0 NA
X-1718140-C-T p.Arg323Cys missense AKAP17A 7 81582 8.58032E-5 40791 0 1.73373E-5
X-1718141-G-A p.Arg323His missense AKAP17A 5 81584 6.12865E-5 40792 0 1.13601E-4
X-1718142-C-G p.Arg323Arg synonymous AKAP17A 1 81568 1.22597E-5 40784 0 NA
X-1718145-G-C p.Lys324Asn missense AKAP17A 2 81584 2.45146E-5 40792 0 8.76885E-6
X-1718147-G-C p.Arg325Thr missense AKAP17A 1 81586 1.2257E-5 40793 0 3.99687E-6
X-1718148-G-A p.Arg325Arg synonymous AKAP17A 4 81590 4.90256E-5 40795 0 1.15915E-4
X-1718157-G-A p.Lys328Lys synonymous AKAP17A 146 81578 0.0017897 40789 0 0.00149662
X-1718160-G-C p.Gln329His missense AKAP17A 2 81596 2.4511E-5 40798 0 NA
X-1718162-G-C p.Arg330Thr missense AKAP17A 4 81614 4.90112E-5 40807 0 2.86642E-4
X-1718168-G-A p.Arg332His missense AKAP17A 23 81602 2.81856E-4 40801 0 2.54793E-4
X-1718176-C-T p.Arg335Cys missense AKAP17A 2 81546 2.4526E-5 40773 0 6.25782E-4
X-1718177-G-A p.Arg335His missense AKAP17A 6 81530 7.35925E-5 40765 0 9.55536E-5
X-1718179-C-T p.Arg336Trp missense AKAP17A 1 81538 1.22642E-5 40769 0 3.18593E-5
X-1718180-G-A p.Arg336Gln missense AKAP17A 8 81550 9.80993E-5 40775 0 6.37064E-5
X-1718180-GGAATCAGAA-G p.Asn337_Lys339del disruptive_inframe_deletion AKAP17A 1 81550 1.22624E-5 40775 0 NA
X-1718181-G-T p.Arg336Arg synonymous AKAP17A 1 81542 1.22636E-5 40771 0 1.02459E-5
X-1718190-GAAGCTGGAGAAGCTGCAGGCGGAGGAGCAGAAGCAGCTGCAGGAGAAGATC-G p.Lys343_Glu359del conservative_inframe_deletion AKAP17A 1 81542 1.22636E-5 40771 0 NA
X-1718197-G-C p.Glu342Gln missense AKAP17A 5 81540 6.13196E-5 40770 0 3.18492E-5
X-1718210-C-T p.Ala346Val missense AKAP17A 1 81500 1.22699E-5 40750 0 NA
X-1718211-G-A p.Ala346Ala synonymous AKAP17A 6 81508 7.36124E-5 40754 0 0.00309837
X-1718215-G-A p.Glu348Lys missense AKAP17A 1 81502 1.22696E-5 40751 0 NA
X-1718220-G-C p.Gln349His missense AKAP17A 1 81500 1.22699E-5 40750 0 NA
X-1718246-T-C p.Leu358Pro missense AKAP17A 1 81314 1.2298E-5 40657 0 4.58081E-6
X-1718254-C-T p.Arg361Cys missense AKAP17A 2 81224 2.46233E-5 40612 0 3.18532E-5
X-1718255-G-A p.Arg361His missense AKAP17A 5 81222 6.15597E-5 40611 0 1.05601E-4
X-1718256-C-T p.Arg361Arg synonymous AKAP17A 2 81224 2.46233E-5 40612 0 0.00250941
X-1718263-C-G p.Leu364Val missense AKAP17A 1 81158 1.23216E-5 40579 0 2.224E-5
X-1718267-T-C p.Leu365Pro missense AKAP17A 2 81112 2.46573E-5 40556 0 NA
X-1718274-G-C p.Gln367His missense AKAP17A 1 81036 1.23402E-5 40518 0 4.93657E-5
X-1718276-G-A p.Arg368Lys missense AKAP17A 1 81008 1.23445E-5 40504 0 NA
X-1718290-A-C p.Ile373Leu missense AKAP17A 1 80808 1.2375E-5 40404 0 NA
X-1718291-T-C p.Ile373Thr missense AKAP17A 4 80740 4.95417E-5 40370 0 NA
X-1718293-C-T p.Arg374Trp missense AKAP17A 2 80704 2.47819E-5 40352 0 3.18532E-5
X-1718294-G-A p.Arg374Gln missense AKAP17A 1 80676 1.23953E-5 40338 0 6.54772E-5
X-1718301-C-T p.Ile376Ile synonymous AKAP17A 5 80550 6.20732E-5 40275 0 4.33333E-4
X-1718302-G-A p.Ala377Thr missense AKAP17A 5 80518 6.20979E-5 40259 0 0.00158353
X-1718303-C-T p.Ala377Val missense AKAP17A 1 80514 1.24202E-5 40257 0 NA
X-1718304-C-A p.Ala377Ala synonymous AKAP17A 221 80458 0.00274677 40229 0 0.00953895
X-1718304-C-T p.Ala377Ala synonymous AKAP17A 2 80462 2.48565E-5 40231 0 6.27746E-4
X-1718305-G-A p.Glu378Lys missense AKAP17A 1 80458 1.24288E-5 40229 0 6.90703E-5
X-1718310-G-C p.Leu379Leu synonymous AKAP17A 1 80378 1.24412E-5 40189 0 NA
X-1718314-A-G p.Ser381Gly missense AKAP17A 1 80330 1.24486E-5 40165 0 NA
X-1718318-G-A p.Arg382Lys missense AKAP17A 2 80288 2.49103E-5 40144 0 3.18573E-5
X-1718321-C-T p.Ala383Val missense AKAP17A 2 80254 2.49209E-5 40127 0 NA
X-1718324-A-G p.Lys384Arg missense+splice_region AKAP17A 1 80188 1.24707E-5 40094 0 3.90869E-5
X-1718331-C-T c.1152+6C>T splice_region AKAP17A 2 80060 2.49813E-5 40030 0 4.17955E-5
X-1718332-G-A p.Gly387Arg missense AKAP17A 2 80102 2.49682E-5 40051 0 6.37633E-5
X-1718336-G-A p.Gly388Asp missense AKAP17A 9 79884 1.12663E-4 39942 0 3.18735E-4
X-1718350-C-T p.Arg393Cys missense AKAP17A 1 79942 1.25091E-5 39971 0 6.3743E-5
X-1718351-G-A p.Arg393His missense AKAP17A 67 79934 8.38191E-4 39967 0 8.1427E-4
X-1718351-G-C p.Arg393Pro missense AKAP17A 1 79918 1.25128E-5 39959 0 0.00133591
X-1718355-G-C p.Gln394His missense AKAP17A 7 80110 8.73799E-5 40055 0 0.0014642
X-1718356-C-T p.Pro395Ser missense AKAP17A 4 80100 4.99376E-5 40050 0 5.6638E-4
X-1718357-C-G p.Pro395Arg missense AKAP17A 5 80094 6.24266E-5 40047 0 6.37308E-5
X-1718358-G-A p.Pro395Pro synonymous AKAP17A 82 80066 0.00102416 40033 0 0.00168897
X-1718360-G-A p.Arg396His missense AKAP17A 39387 77608 0.507512 38804 9913 0.567089
X-1718360-G-T p.Arg396Leu missense AKAP17A 12 80086 1.49839E-4 40043 0 8.2163E-5
X-1718362-C-G p.Pro397Ala missense AKAP17A 1 80128 1.248E-5 40064 0 NA
X-1718363-C-T p.Pro397Leu missense AKAP17A 7 80138 8.73493E-5 40069 0 4.80077E-5
X-1718363-C-A p.Pro397Gln missense AKAP17A 1 80138 1.24785E-5 40069 0 NA
X-1718363-C-G p.Pro397Arg missense AKAP17A 2 80138 2.49569E-5 40069 0 6.37349E-5
X-1718364-G-A p.Pro397Pro synonymous AKAP17A 2 80112 2.4965E-5 40056 0 1.91156E-4
X-1718364-G-C p.Pro397Pro synonymous AKAP17A 1 80114 1.24822E-5 40057 0 NA
X-1718378-G-A p.Cys402Tyr missense AKAP17A 4 79994 5.00037E-5 39997 0 1.27421E-4
X-1718380-C-A p.Pro403Thr missense AKAP17A 1 79964 1.25056E-5 39982 0 NA
X-1718383-C-T p.Pro404Ser missense AKAP17A 1 79994 1.25009E-5 39997 0 1.08239E-4
X-1718392-T-C p.Cys407Arg missense AKAP17A 1 79862 1.25216E-5 39931 0 6.37186E-5
X-1718394-C-T p.Cys407Cys synonymous AKAP17A 4 79792 5.01303E-5 39896 0 1.92367E-5
X-1718395-G-A p.Gly408Arg missense AKAP17A 1 79810 1.25298E-5 39905 0 6.40705E-6
X-1718398-C-A p.Arg409Arg synonymous AKAP17A 3 79542 3.77159E-5 39771 0 5.21268E-5
X-1718399-G-A p.Arg409Gln missense AKAP17A 5 79550 6.28535E-5 39775 0 7.0806E-5
X-1718400-G-A p.Arg409Arg synonymous AKAP17A 993 79418 0.0125035 39709 25 0.03773
X-1718401-C-A p.Arg410Ser missense AKAP17A 36 79388 4.53469E-4 39694 0 6.26566E-4
X-1718401-C-T p.Arg410Cys missense AKAP17A 3 79388 3.77891E-5 39694 0 5.79613E-5
X-1718402-G-A p.Arg410His missense AKAP17A 4 79426 5.03613E-5 39713 0 6.25E-4
X-1718404-C-T p.His411Tyr missense AKAP17A 1 79412 1.25926E-5 39706 0 NA
X-1718407-G-A p.Gly412Ser missense AKAP17A 1 79318 1.26075E-5 39659 0 5.20454E-5
X-1718409-C-T p.Gly412Gly synonymous AKAP17A 7 79198 8.83861E-5 39599 0 3.68227E-4
X-1718410-G-A p.Ala413Thr missense AKAP17A 3 79124 3.79152E-5 39562 0 2.62771E-4
X-1718412-C-T p.Ala413Ala synonymous AKAP17A 1 79114 1.264E-5 39557 0 1.2971E-5
X-1718413-G-A p.Val414Ile missense AKAP17A 6 79128 7.58265E-5 39564 0 2.54891E-4
X-1718419-C-T p.Pro416Ser missense AKAP17A 2 79146 2.52698E-5 39573 0 NA
X-1718420-C-T p.Pro416Leu missense AKAP17A 2 79140 2.52717E-5 39570 0 5.44603E-5
X-1718421-G-A p.Pro416Pro synonymous AKAP17A 8 79092 1.01148E-4 39546 0 1.23474E-4
X-1718423-C-T p.Pro417Leu missense AKAP17A 8 79046 1.01207E-4 39523 0 6.37186E-5
X-1718424-G-A p.Pro417Pro synonymous AKAP17A 3 79074 3.79391E-5 39537 0 3.89864E-5
X-1718428-G-A p.Ala419Thr missense AKAP17A 1 79032 1.26531E-5 39516 0 5.52303E-5
X-1718431-G-A p.Ala420Thr missense AKAP17A 1 79030 1.26534E-5 39515 0 9.55718E-5
X-1718433-T-C p.Ala420Ala synonymous AKAP17A 1 79006 1.26573E-5 39503 0 5.58223E-5
X-1718441-C-T p.Thr423Met missense AKAP17A 4 78920 5.06842E-5 39460 0 4.57116E-5
X-1718442-G-A p.Thr423Thr synonymous AKAP17A 24 78904 3.04167E-4 39452 0 3.50475E-4
X-1718443-A-G p.Lys424Glu missense AKAP17A 2 78876 2.53563E-5 39438 0 3.18492E-5
X-1718454-A-G p.Leu427Leu synonymous AKAP17A 1 78800 1.26904E-5 39400 0 1.31392E-5
X-1718459-C-T p.Pro429Leu missense AKAP17A 6 78708 7.62311E-5 39354 0 3.96978E-5
X-1718460-G-A p.Pro429Pro synonymous AKAP17A 2 78706 2.5411E-5 39353 0 6.37146E-5
X-1718463-G-C p.Arg430Ser missense AKAP17A 2 78648 2.54298E-5 39324 0 NA
X-1718466-G-A p.Met431Ile missense AKAP17A 1 78592 1.27239E-5 39296 0 6.65141E-6
X-1718468-C-T p.Thr432Met missense AKAP17A 2 78536 2.5466E-5 39268 0 8.69856E-5
X-1718468-C-A p.Thr432Lys missense AKAP17A 1 78536 1.2733E-5 39268 0 NA
X-1718469-G-A p.Thr432Thr synonymous AKAP17A 3 78484 3.82244E-5 39242 0 6.25E-4
X-1718479-C-T p.Arg436Trp missense AKAP17A 3 78200 3.83632E-5 39100 0 3.18532E-5
X-1718480-G-A p.Arg436Gln missense AKAP17A 5 78166 6.39664E-5 39083 0 1.51584E-4
X-1718487-T-C p.Gly438Gly synonymous AKAP17A 2 77944 2.56594E-5 38972 0 NA
X-1718487-T-G p.Gly438Gly synonymous AKAP17A 4 77946 5.13176E-5 38973 0 6.23977E-5
X-1718491-G-C p.Ala440Pro missense AKAP17A 1 77776 1.28574E-5 38888 0 1.41499E-5
X-1718492-C-T p.Ala440Val missense AKAP17A 2 77704 2.57387E-5 38852 0 5.67159E-5
X-1718493-G-A p.Ala440Ala synonymous AKAP17A 11 77638 1.41683E-4 38819 0 1.59327E-4
X-1718493-G-T p.Ala440Ala synonymous AKAP17A 3 77638 3.86409E-5 38819 0 1.72058E-4
X-1718494-C-T p.Leu441Phe missense AKAP17A 4 77626 5.15291E-5 38813 0 6.25E-4
X-1718496-C-A p.Leu441Leu synonymous AKAP17A 3 77560 3.86797E-5 38780 0 3.18634E-5
X-1718497-G-C p.Val442Leu missense AKAP17A 1 77530 1.28982E-5 38765 0 NA
X-1718498-T-C p.Val442Ala missense AKAP17A 2 77482 2.58124E-5 38741 0 1.46436E-5
X-1718504-G-A p.Arg444His missense AKAP17A 28 77160 3.62882E-4 38580 0 0.00125
X-1718509-C-T p.Arg446* stop_gained AKAP17A 3 76882 3.90208E-5 38441 0 3.93088E-5
X-1718510-G-A p.Arg446Gln missense AKAP17A 7 76774 9.11767E-5 38387 0 3.31858E-4
X-1719098-A-T c.*62A>T splice_region AKAP17A 2 35220 5.67859E-5 17610 0 NA
X-1719545-C-T c.1153-7C>T splice_region AKAP17A 1 73530 1.35999E-5 36765 0 NA
X-1719547-C-T c.1153-5C>T splice_region AKAP17A 7 73716 9.4959E-5 36858 0 2.55167E-4
X-1719548-G-T c.1153-4G>T splice_region AKAP17A 205 73642 0.00278374 36821 1 0.00574383
X-1719554-T-C p.Ala385Ala splice_region+synonymous AKAP17A 1 74370 1.34463E-5 37185 0 3.19122E-5
X-1719555-G-T p.Val386Leu missense AKAP17A 1 74452 1.34315E-5 37226 0 8.726E-4
X-1719564-C-T p.Arg389Trp missense AKAP17A 2 74666 2.6786E-5 37333 0 7.60919E-5
X-1719565-G-A p.Arg389Gln missense AKAP17A 1 74696 1.33876E-5 37348 0 3.18695E-5
X-1719570-C-G p.Gln391Glu missense AKAP17A 3 74966 4.00181E-5 37483 0 7.09119E-5
X-1719572-G-C p.Gln391His missense AKAP17A 1 75044 1.33255E-5 37522 0 NA
X-1719578-G-T p.Gln393His missense AKAP17A 1 75032 1.33276E-5 37516 0 NA
X-1719585-G-A p.Glu396Lys missense AKAP17A 2 75188 2.66E-5 37594 0 1.30191E-4
X-1719591-C-T p.Leu398Leu synonymous AKAP17A 1 74984 1.33362E-5 37492 0 NA
X-1719593-G-A p.Leu398Leu synonymous AKAP17A 1 75078 1.33195E-5 37539 0 NA
X-1719596-G-A p.Arg399Arg synonymous AKAP17A 115 74850 0.00153641 37425 2 0.0302648
X-1719613-AGCG-A p.Arg408del disruptive_inframe_deletion AKAP17A 1 74102 1.34949E-5 37051 0 3.33298E-5
X-1719615-C-T p.Arg406Trp missense AKAP17A 2 73848 2.70827E-5 36924 0 2.68485E-5
X-1719616-GGCGGCGGCTGCAGGAGGCCGAGCT-G p.Leu409_Arg416del disruptive_inframe_deletion AKAP17A 2 73896 2.70651E-5 36948 0 NA
X-1719616-G-A p.Arg406Gln missense AKAP17A 1 73894 1.35329E-5 36947 0 1.27714E-4
X-1719619-G-A p.Arg407Gln missense AKAP17A 2 73678 2.71451E-5 36839 0 NA
X-1719622-G-A p.Arg408Gln missense AKAP17A 2 73254 2.73023E-5 36627 0 6.38325E-5
X-1719635-C-T p.Ala412Ala synonymous AKAP17A 2 72402 2.76235E-5 36201 0 3.19E-5
X-1719643-G-A p.Arg415Gln missense AKAP17A 20 72512 2.75816E-4 36256 0 2.77685E-4
X-1719644-G-A p.Arg415Arg synonymous AKAP17A 2 72648 2.753E-5 36324 0 6.37796E-5
X-1719649-TGGA-T p.Glu420del conservative_inframe_deletion AKAP17A 1 72504 1.37923E-5 36252 0 NA
X-1719656-G-A p.Glu419Glu synonymous AKAP17A 58 72914 7.95458E-4 36457 0 0.00101861
X-1719667-G-A p.Arg423His missense AKAP17A 1 72786 1.37389E-5 36393 0 1.08271E-5
X-1719668-C-T p.Arg423Arg synonymous AKAP17A 1 72728 1.37499E-5 36364 0 1.19256E-4
X-1719669-G-A p.Ala424Thr missense AKAP17A 4 72872 5.48908E-5 36436 0 2.70751E-4
X-1719671-G-A p.Ala424Ala synonymous AKAP17A 2 72862 2.74492E-5 36431 0 1.12091E-4
X-1719678-C-A p.Leu427Met missense AKAP17A 2 73496 2.72124E-5 36748 0 NA
X-1719685-G-A p.Arg429Gln missense AKAP17A 4 73854 5.41609E-5 36927 0 1.17502E-4
X-1719693-C-T p.Arg432Trp missense AKAP17A 4 74010 5.40468E-5 37005 0 5.37143E-5
X-1719694-G-A p.Arg432Gln missense AKAP17A 2 74328 2.69078E-5 37164 0 1.42942E-5
X-1719702-C-T p.Arg435Cys missense AKAP17A 5 74392 6.72115E-5 37196 0 7.50263E-5
X-1719704-C-T p.Arg435Arg synonymous AKAP17A 2 74462 2.68593E-5 37231 0 5.06252E-5
X-1719705-G-A p.Glu436Lys missense AKAP17A 4 74684 5.3559E-5 37342 0 2.46767E-5
X-1719708-C-T p.Arg437Trp missense AKAP17A 4 74784 5.34874E-5 37392 0 3.19285E-5
X-1719709-G-A p.Arg437Gln missense AKAP17A 5 74990 6.66756E-5 37495 0 0.00239234
X-1719710-GCTGCTGAGCATC-G p.Ile441_Ser444del disruptive_inframe_deletion AKAP17A 2 74994 2.66688E-5 37497 0 NA
X-1719725-G-A p.Leu442Leu synonymous AKAP17A 1 75792 1.3194E-5 37896 0 NA
X-1719731-C-T p.Ser444Ser synonymous AKAP17A 1 76000 1.31579E-5 38000 0 NA
X-1719738-C-A p.Pro447Thr missense AKAP17A 3 76010 3.94685E-5 38005 0 6.86059E-5
X-1719739-C-T p.Pro447Leu missense AKAP17A 15 76102 1.97104E-4 38051 0 2.52085E-4
X-1719741-G-C p.Asp448His missense AKAP17A 1 76234 1.31175E-5 38117 0 NA
X-1719743-C-T p.Asp448Asp synonymous AKAP17A 17 76168 2.23191E-4 38084 0 3.51146E-4
X-1719743-C-A p.Asp448Glu missense AKAP17A 1 76172 1.31282E-5 38086 0 4.77168E-6
X-1719744-G-A p.Asp449Asn missense AKAP17A 2 76290 2.62158E-5 38145 0 3.19183E-5
X-1719748-G-A p.Ser450Asn missense AKAP17A 1 76526 1.30675E-5 38263 0 NA
X-1719749-C-A p.Ser450Arg missense AKAP17A 18 76472 2.3538E-4 38236 0 0.00557769
X-1719750-C-T p.His451Tyr missense AKAP17A 4 76612 5.22111E-5 38306 0 2.0242E-4
X-1719753-A-G p.Thr452Ala missense AKAP17A 1 76720 1.30344E-5 38360 0 4.79672E-6
X-1719754-C-T p.Thr452Ile missense AKAP17A 2 76742 2.60613E-5 38371 0 1.13307E-4
X-1719755-A-G p.Thr452Thr synonymous AKAP17A 1 76746 1.303E-5 38373 0 4.80201E-6
X-1719758-C-G p.His453Gln missense AKAP17A 1 76658 1.3045E-5 38329 0 2.28707E-5
X-1719759-G-A p.Asp454Asn missense AKAP17A 2 76694 2.60777E-5 38347 0 4.61574E-5
X-1719761-C-T p.Asp454Asp synonymous AKAP17A 2 76768 2.60525E-5 38384 0 3.0175E-4
X-1719762-G-A p.Glu455Lys missense AKAP17A 1 76852 1.3012E-5 38426 0 6.25E-4
X-1719763-A-C p.Glu455Ala missense AKAP17A 2 76912 2.60037E-5 38456 0 4.89175E-6
X-1719770-C-T p.Gly457Gly synonymous AKAP17A 9 76826 1.17148E-4 38413 0 2.23457E-4
X-1719771-G-A p.Val458Met missense AKAP17A 6 76936 7.79869E-5 38468 0 1.59571E-4
X-1719771-G-T p.Val458Leu missense AKAP17A 1 76936 1.29978E-5 38468 0 3.19142E-5
X-1719774-G-A p.Ala459Thr missense AKAP17A 3 76896 3.90137E-5 38448 0 NA
X-1719779-C-T p.His460His synonymous AKAP17A 5 77014 6.49233E-5 38507 0 0.00161812
X-1719780-G-A p.Ala461Thr missense AKAP17A 24 76938 3.11939E-4 38469 0 2.28091E-4
X-1719782-C-T p.Ala461Ala synonymous AKAP17A 24 76996 3.11704E-4 38498 0 0.00571895
X-1719783-G-A p.Asp462Asn missense AKAP17A 5 77048 6.48946E-5 38524 0 5.17974E-5
X-1719788-G-A p.Leu463Leu synonymous AKAP17A 86 77356 0.00111174 38678 0 9.83154E-4
X-1719798-G-A p.Val467Ile missense AKAP17A 1 77468 1.29086E-5 38734 0 5.4095E-5
X-1719803-G-A p.Leu468Leu synonymous AKAP17A 24 77676 3.08976E-4 38838 0 2.97732E-4
X-1719810-C-T p.Leu471Leu synonymous AKAP17A 1 77738 1.28637E-5 38869 0 NA
X-1719812-G-T p.Leu471Leu synonymous AKAP17A 1 77670 1.2875E-5 38835 0 NA
X-1719815-G-T p.Gln472His missense AKAP17A 2 77708 2.57374E-5 38854 0 1.07043E-5
X-1719818-C-T p.Thr473Thr synonymous AKAP17A 4 77674 5.14973E-5 38837 0 8.42697E-5
X-1719824-G-A p.Ser475Ser synonymous AKAP17A 37 77648 4.76509E-4 38824 0 0.00404858
X-1719824-G-T p.Ser475Ser synonymous AKAP17A 3 77648 3.86359E-5 38824 0 NA
X-1719827-C-T p.Ser476Ser synonymous AKAP17A 2 77676 2.5748E-5 38838 0 3.19061E-5
X-1719828-G-A p.Gly477Ser missense AKAP17A 3 77698 3.8611E-5 38849 0 8.24992E-5
X-1719829-G-A p.Gly477Asp missense AKAP17A 1 77666 1.28756E-5 38833 0 NA
X-1719832-G-C p.Cys478Ser missense AKAP17A 9 77892 1.15545E-4 38946 0 6.38162E-5
X-1719839-C-T p.Ser480Ser synonymous AKAP17A 12 77826 1.5419E-4 38913 0 0.00569106
X-1719840-G-A p.Ala481Thr missense AKAP17A 10 77876 1.28409E-4 38938 0 1.27787E-4
X-1719842-C-T p.Ala481Ala synonymous AKAP17A 2 78006 2.56391E-5 39003 0 NA
X-1719847-C-T p.Thr483Met missense AKAP17A 9 78136 1.15184E-4 39068 0 2.04769E-4
X-1719848-G-A p.Thr483Thr synonymous AKAP17A 335 78080 0.00429047 39040 4 0.00818414
X-1719854-C-T p.His485His synonymous AKAP17A 3 78258 3.83347E-5 39129 0 3.19224E-5
X-1719860-C-T p.Leu487Leu synonymous AKAP17A 8 78120 1.02407E-4 39060 0 1.27787E-4
X-1719861-G-A p.Gly488Arg missense AKAP17A 1 78162 1.27939E-5 39081 0 3.19734E-5
X-1719865-G-A p.Gly489Asp missense AKAP17A 2 78216 2.55702E-5 39108 0 2.41296E-5
X-1719866-C-T p.Gly489Gly synonymous AKAP17A 1 78224 1.27838E-5 39112 0 NA
X-1719869-G-T p.Gln490His missense AKAP17A 1 78380 1.27584E-5 39190 0 NA
X-1719870-C-T p.Pro491Ser missense AKAP17A 1 78384 1.27577E-5 39192 0 4.75317E-6
X-1719872-C-T p.Pro491Pro synonymous AKAP17A 1 78508 1.27376E-5 39254 0 NA
X-1719873-C-A p.Pro492Thr missense AKAP17A 1 78510 1.27372E-5 39255 0 NA
X-1719874-C-T p.Pro492Leu missense AKAP17A 85 78518 0.00108255 39259 0 0.00207801
X-1719875-G-A p.Pro492Pro synonymous AKAP17A 6 78338 7.65912E-5 39169 0 2.41848E-4
X-1719875-G-T p.Pro492Pro synonymous AKAP17A 1 78338 1.27652E-5 39169 0 NA
X-1719878-C-T p.Ala493Ala synonymous AKAP17A 5 78600 6.36132E-5 39300 0 1.16153E-4
X-1719879-G-C p.Gly494Arg missense AKAP17A 2 78592 2.54479E-5 39296 0 3.79824E-5
X-1719887-C-A p.Pro496Pro synonymous AKAP17A 1 78966 1.26637E-5 39483 0 NA
X-1719887-C-T p.Pro496Pro synonymous AKAP17A 1 78966 1.26637E-5 39483 0 3.42736E-5
X-1719891-G-C p.Glu498Gln missense AKAP17A 8 79014 1.01248E-4 39507 0 5.66661E-5
X-1719893-G-C p.Glu498Asp missense AKAP17A 12 79074 1.51757E-4 39537 0 3.19305E-4
X-1719895-GCC-ACG p.SerPro499AsnAla missense AKAP17A 3 79076 3.79382E-5 39538 0 NA
X-1719895-G-A p.Ser499Asn missense AKAP17A 5 79076 6.32303E-5 39538 0 0.00320256
X-1719896-C-T p.Ser499Ser synonymous AKAP17A 2 79064 2.5296E-5 39532 0 6.29366E-5
X-1719896-CC-TG p.SerPro499SerAla missense AKAP17A 2 79064 2.5296E-5 39532 0 NA
X-1719897-C-G p.Pro500Ala missense AKAP17A 39118 72722 0.537911 36361 10179 1.04545
X-1719897-CC-GT p.Pro500Val missense AKAP17A 5 79106 6.32063E-5 39553 0 NA
X-1719898-C-T p.Pro500Leu missense AKAP17A 3 79162 3.7897E-5 39581 0 4.09543E-4
X-1719899-G-A p.Pro500Pro synonymous AKAP17A 16 79226 2.01954E-4 39613 0 2.23628E-4
X-1719906-C-T p.Pro503Ser missense AKAP17A 1 79456 1.25856E-5 39728 0 1.67223E-5
X-1719913-C-T p.Ala505Val missense AKAP17A 1 79674 1.25511E-5 39837 0 NA
X-1719914-C-T p.Ala505Ala synonymous AKAP17A 8 79734 1.00334E-4 39867 0 6.38855E-5
X-1719915-G-A p.Asp506Asn missense AKAP17A 46 79774 5.76629E-4 39887 0 8.21473E-4
X-1719917-C-A p.Asp506Glu missense AKAP17A 3 79872 3.75601E-5 39936 0 1.27771E-4
X-1719917-C-T p.Asp506Asp synonymous AKAP17A 3 79872 3.75601E-5 39936 0 0.00160772
X-1719918-G-A p.Gly507Ser missense AKAP17A 1 79868 1.25207E-5 39934 0 6.38978E-5
X-1719920-C-T p.Gly507Gly synonymous AKAP17A 4 79932 5.00425E-5 39966 0 6.30517E-4
X-1719921-G-A p.Ala508Thr missense AKAP17A 8 79990 1.00013E-4 39995 0 1.27763E-4
X-1719923-T-C p.Ala508Ala synonymous AKAP17A 1 80200 1.24688E-5 40100 0 9.44608E-6
X-1719926-C-T p.Pro509Pro synonymous AKAP17A 9 80364 1.1199E-4 40182 0 3.19081E-5
X-1719927-A-G p.Lys510Glu missense AKAP17A 4 80380 4.97636E-5 40190 0 9.30336E-6
X-1719928-A-G p.Lys510Arg missense AKAP17A 167 80410 0.00207686 40205 4 0.00757239
X-1719933-G-A p.Val512Met missense AKAP17A 352 80558 0.00436952 40279 6 0.00912514
X-1719938-C-T p.Asn513Asn synonymous AKAP17A 10 80714 1.23894E-4 40357 0 1.3251E-4
X-1719939-G-A p.Gly514Arg missense AKAP17A 3 80770 3.71425E-5 40385 0 0.00160256
X-1719944-C-T p.Ser515Ser synonymous AKAP17A 6 80796 7.42611E-5 40398 0 2.23471E-4
X-1719945-G-A p.Val516Met missense AKAP17A 2 80866 2.47323E-5 40433 0 1.13319E-4
X-1719950-C-T p.Ala517Ala synonymous AKAP17A 21 80970 2.59355E-4 40485 0 2.87191E-4
X-1719951-G-A p.Glu518Lys missense AKAP17A 3 81008 3.70334E-5 40504 0 3.1904E-5
X-1719956-G-C p.Glu519Asp missense AKAP17A 2 81110 2.46579E-5 40555 0 8.48839E-6
X-1719963-T-C p.Cys522Arg missense AKAP17A 34 81162 4.18915E-4 40581 0 4.78713E-4
X-1719965-C-G p.Cys522Trp missense AKAP17A 1 81184 1.23177E-5 40592 0 3.18898E-5
X-1719971-G-A p.Glu524Glu synonymous AKAP17A 3 81238 3.69285E-5 40619 0 4.19069E-5
X-1719978-A-G p.Ser527Gly missense AKAP17A 3 81260 3.69185E-5 40630 0 9.97216E-5
X-1719987-C-T p.Arg530Cys missense AKAP17A 5 81316 6.14885E-5 40658 0 8.01925E-4
X-1719988-G-A p.Arg530His missense AKAP17A 98 81324 0.00120506 40662 1 0.00924745
X-1719991-T-TGGTCCCCGAGGATGGCTCTCCAGAGAAGAGGTGCCC p.Val532_Pro543dup disruptive_inframe_insertion AKAP17A 1 81292 1.23013E-5 40646 0 2.79091E-5
X-1719995-C-A p.Val532Val synonymous AKAP17A 4 81306 4.91969E-5 40653 0 NA
X-1719998-C-T p.Pro533Pro synonymous AKAP17A 4 81300 4.92005E-5 40650 0 8.07754E-4
X-1719999-G-A p.Glu534Lys missense AKAP17A 11 81304 1.35295E-4 40652 0 0.00161681
X-1720002-G-A p.Asp535Asn missense AKAP17A 1 81338 1.22944E-5 40669 0 NA
X-1720002-G-T p.Asp535Tyr missense AKAP17A 3 81338 3.68831E-5 40669 0 NA
X-1720027-C-T p.Pro543Leu missense AKAP17A 482 81318 0.00592735 40659 10 0.0130999
X-1720028-G-A p.Pro543Pro synonymous AKAP17A 24 81346 2.95036E-4 40673 0 0.00160514
X-1720030-G-A p.Gly544Asp missense AKAP17A 1 81340 1.22941E-5 40670 0 7.96959E-6
X-1720031-C-T p.Gly544Gly synonymous AKAP17A 1 81334 1.2295E-5 40667 0 8.0064E-4
X-1720032-G-A p.Gly545Ser missense AKAP17A 4 81362 4.9163E-5 40681 0 5.79183E-5
X-1720033-G-C p.Gly545Ala missense AKAP17A 6 81344 7.37608E-5 40672 0 4.30221E-4
X-1720034-C-T p.Gly545Gly synonymous AKAP17A 3 81350 3.68777E-5 40675 0 2.78916E-5
X-1720035-G-A p.Val546Ile missense AKAP17A 1 81384 1.22874E-5 40692 0 8.27007E-6
X-1720036-T-G p.Val546Gly missense AKAP17A 1 81394 1.22859E-5 40697 0 1.65385E-5
X-1720038-C-T p.Leu547Phe missense AKAP17A 1 81462 1.22757E-5 40731 0 NA
X-1720042-C-T p.Ser548Phe missense AKAP17A 2 81484 2.45447E-5 40742 0 2.4793E-5
X-1720043-C-T p.Ser548Ser synonymous AKAP17A 3 81482 3.68179E-5 40741 0 1.99173E-5
X-1720055-C-G p.Asp552Glu missense AKAP17A 2 81502 2.45393E-5 40751 0 8.25955E-6
X-1720061-C-T p.Asn554Asn synonymous AKAP17A 81 81554 9.93207E-4 40777 1 0.00248566
X-1720072-A-G p.Lys558Arg missense AKAP17A 2 81560 2.45218E-5 40780 0 8.25682E-6
X-1720073-G-C p.Lys558Asn missense AKAP17A 4 81556 4.90461E-5 40778 0 1.59319E-5
X-1720074-G-A p.Gly559Ser missense AKAP17A 1 81544 1.22633E-5 40772 0 NA
X-1720079-C-A p.Ile560Ile synonymous AKAP17A 1 81548 1.22627E-5 40774 0 NA
X-1720079-C-T p.Ile560Ile synonymous AKAP17A 1 81548 1.22627E-5 40774 0 NA
X-1720080-C-T p.Pro561Ser missense AKAP17A 2 81564 2.45206E-5 40782 0 NA
X-1720084-C-A p.Ala562Asp missense AKAP17A 2 81580 2.45158E-5 40790 0 8.25655E-6
X-1720087-G-C p.Cys563Ser missense AKAP17A 1 81580 1.22579E-5 40790 0 8.25696E-6
X-1720087-G-A p.Cys563Tyr missense AKAP17A 1 81580 1.22579E-5 40790 0 1.65139E-5
X-1720088-C-T p.Cys563Cys synonymous AKAP17A 2 81564 2.45206E-5 40782 0 2.7882E-5
X-1720094-G-C p.Gln565His missense AKAP17A 1 81568 1.22597E-5 40784 0 NA
X-1720103-C-T p.Ser568Ser synonymous AKAP17A 2 81570 2.45188E-5 40785 0 4.95999E-5
X-1720113-A-G p.Thr572Ala missense AKAP17A 1 81542 1.22636E-5 40771 0 3.31033E-5
X-1720114-C-T p.Thr572Ile missense AKAP17A 18 81544 2.2074E-4 40772 0 1.27453E-4
X-1720116-C-T p.Arg573Trp missense AKAP17A 3 81514 3.68035E-5 40757 0 6.37471E-5
X-1720117-G-A p.Arg573Gln missense AKAP17A 67 81532 8.21763E-4 40766 0 0.0025
X-1720126-A-G p.Gln576Arg missense AKAP17A 1 81508 1.22687E-5 40754 0 3.18756E-5
X-1720133-G-A p.Lys578Lys synonymous AKAP17A 1 81460 1.2276E-5 40730 0 1.66461E-5
X-1720140-C-T p.Arg581Trp missense AKAP17A 3 81336 3.6884E-5 40668 0 1.41977E-4
X-1720141-G-A p.Arg581Gln missense AKAP17A 1 81344 1.22935E-5 40672 0 4.7967E-5
X-1720145-G-GCCAAAGCGTGAACGGGAGCGTGGCCGAGGAGGC p.Pro583_Ser584insLysArgGluArgGluArgGlyArgGlyGlyPro disruptive_inframe_insertion AKAP17A 1 81316 1.22977E-5 40658 0 NA
X-1720151-C-G p.Ser584Arg missense AKAP17A 1 81238 1.23095E-5 40619 0 NA
X-1720154-G-C p.Lys585Asn missense AKAP17A 1 81240 1.23092E-5 40620 0 NA
X-1720155-G-C p.Gly586Arg missense AKAP17A 1 81216 1.23128E-5 40608 0 8.58664E-6
X-1720158-C-T p.Arg587Trp missense AKAP17A 41 81112 5.05474E-4 40556 0 7.01396E-4
X-1720159-G-A p.Arg587Gln missense AKAP17A 2 81196 2.46318E-5 40598 0 6.25782E-4
X-1720164-C-T p.Arg589Trp missense AKAP17A 8 81058 9.86948E-5 40529 0 7.77001E-4
X-1720165-G-A p.Arg589Gln missense AKAP17A 3 81082 3.69996E-5 40541 0 2.55102E-4
X-1720167-G-C p.Ala590Pro missense AKAP17A 28 81046 3.45483E-4 40523 0 4.14382E-4
X-1720167-G-A p.Ala590Thr missense AKAP17A 2 81046 2.46773E-5 40523 0 4.04354E-6
X-1720167-G-T p.Ala590Ser missense AKAP17A 1 81046 1.23387E-5 40523 0 NA
X-1720168-C-T p.Ala590Val missense AKAP17A 2 81046 2.46773E-5 40523 0 5.31246E-5
X-1720172-C-T p.Thr591Thr synonymous AKAP17A 2 80940 2.47097E-5 40470 0 4.48906E-5
X-1720173-G-A p.Gly592Arg missense AKAP17A 1 80940 1.23548E-5 40470 0 2.69247E-5
X-1720175-A-G p.Gly592Gly synonymous AKAP17A 16 80936 1.97687E-4 40468 0 0.00387597
X-1720178-C-T p.Asp593Asp synonymous AKAP17A 8 80898 9.889E-5 40449 0 6.28931E-4
X-1720179-G-A p.Gly594Arg missense AKAP17A 2 80898 2.47225E-5 40449 0 5.50216E-5
X-1720180-G-C p.Gly594Ala missense AKAP17A 112 80890 0.0013846 40445 0 0.00277494
X-1720181-G-T p.Gly594Gly synonymous AKAP17A 2 80868 2.47317E-5 40434 0 3.18979E-5
X-1720185-G-A p.Ala596Thr missense AKAP17A 1 80810 1.23747E-5 40405 0 NA
X-1720191-C-T p.Arg598Trp missense AKAP17A 1 80668 1.23965E-5 40334 0 4.57282E-5
X-1720192-G-A p.Arg598Gln missense AKAP17A 6 80710 7.43402E-5 40355 0 6.38244E-5
X-1720193-G-C p.Arg598Arg synonymous AKAP17A 1 80696 1.23922E-5 40348 0 NA
X-1720196-C-T p.His599His synonymous AKAP17A 1 80638 1.24011E-5 40319 0 NA
X-1720197-A-G p.Lys600Glu missense AKAP17A 2 80634 2.48034E-5 40317 0 3.19122E-5
X-1720200-C-T p.Arg601Trp missense AKAP17A 5 80572 6.20563E-5 40286 0 6.38896E-5
X-1720201-G-A p.Arg601Gln missense AKAP17A 12 80638 1.48813E-4 40319 0 1.78958E-4
X-1720202-G-A p.Arg601Arg synonymous AKAP17A 1 80652 1.23989E-5 40326 0 3.19E-5
X-1720210-G-A p.Ser604Asn missense AKAP17A 1 80532 1.24174E-5 40266 0 8.52014E-6
X-1720213-G-A p.Arg605Gln missense AKAP17A 6 80464 7.45675E-5 40232 0 3.89617E-5
X-1720221-C-T p.Arg608Trp missense AKAP17A 3 80362 3.73311E-5 40181 0 4.35227E-5
X-1720222-G-A p.Arg608Gln missense AKAP17A 2 80416 2.48707E-5 40208 0 5.42758E-5
X-1720233-A-C p.Arg612Arg synonymous AKAP17A 1 80374 1.24418E-5 40187 0 NA
X-1720241-C-T p.Asp614Asp synonymous AKAP17A 44 80182 5.48752E-4 40091 0 4.85718E-4
X-1720242-G-A p.Gly615Arg missense AKAP17A 1 80202 1.24685E-5 40101 0 6.93818E-5
X-1720251-C-T p.Arg618Cys missense AKAP17A 3 79956 3.75206E-5 39978 0 1.36541E-5
X-1720254-A-G p.Lys619Glu missense AKAP17A 3 79912 3.75413E-5 39956 0 6.39304E-5
X-1720263-C-T p.Arg622Trp missense AKAP17A 1 79490 1.25802E-5 39745 0 0.00156006
X-1720264-G-A p.Arg622Gln missense AKAP17A 2 79462 2.51693E-5 39731 0 5.24404E-5
X-1720269-C-T p.His624Tyr missense AKAP17A 3 79396 3.77853E-5 39698 0 NA
X-1720271-C-G p.His624Gln missense AKAP17A 1 79214 1.2624E-5 39607 0 1.28919E-5
X-1720271-CAAG-C p.Lys626del conservative_inframe_deletion AKAP17A 1 79214 1.2624E-5 39607 0 NA
X-1720273-A-G p.Lys625Arg missense AKAP17A 3 79268 3.78463E-5 39634 0 3.84242E-5
X-1720274-G-A p.Lys625Lys synonymous AKAP17A 2 79232 2.52423E-5 39616 0 1.28856E-5
X-1720280-C-T p.His627His synonymous AKAP17A 3 78922 3.80122E-5 39461 0 0.00235664
X-1720281-G-A p.Ala628Thr missense AKAP17A 144 78806 0.00182727 39403 0 0.00268131
X-1720282-C-T p.Ala628Val missense AKAP17A 6 78844 7.60996E-5 39422 0 6.28141E-4
X-1720289-G-T p.Lys630Asn missense AKAP17A 16 78758 2.03154E-4 39379 0 0.00376884
X-1720298-C-T p.Ser633Ser synonymous AKAP17A 3 78348 3.82907E-5 39174 0 2.00282E-5
X-1720301-C-T p.Pro634Pro synonymous AKAP17A 2 78226 2.55669E-5 39113 0 9.18322E-5
X-1720302-C-T p.Arg635Cys missense AKAP17A 2 78116 2.56029E-5 39058 0 1.18434E-4
X-1720302-C-G p.Arg635Gly missense AKAP17A 3 78116 3.84044E-5 39058 0 NA
X-1720303-G-A p.Arg635His missense AKAP17A 3 77912 3.8505E-5 38956 0 1.05202E-4
X-1720305-C-A p.Arg636Arg synonymous AKAP17A 1 77672 1.28747E-5 38836 0 NA
X-1720305-C-T p.Arg636Trp missense AKAP17A 1 77672 1.28747E-5 38836 0 2.63999E-5
X-1720306-G-A p.Arg636Gln missense AKAP17A 2 77548 2.57905E-5 38774 0 5.2687E-5
X-1720308-C-T p.Arg637Cys missense AKAP17A 1 77300 1.29366E-5 38650 0 1.18521E-4
X-1720309-G-A p.Arg637His missense AKAP17A 5 77234 6.47383E-5 38617 0 5.2783E-5
X-1720313-C-A p.Ser638Arg missense AKAP17A 1 77190 1.2955E-5 38595 0 NA
X-1720315-C-T p.Thr639Met missense AKAP17A 235 76948 0.00305401 38474 6 0.00694334
X-1720316-G-A p.Thr639Thr synonymous AKAP17A 9 76802 1.17184E-4 38401 0 9.23142E-5
X-1720318-G-C p.Ser640Thr missense AKAP17A 118 76646 0.00153955 38323 1 0.00290123
X-1720321-C-T p.Pro641Leu missense AKAP17A 37 76448 4.83989E-4 38224 1 0.00155159
X-1720322-G-A p.Pro641Pro synonymous AKAP17A 1222 76222 0.0160321 38111 13 0.0166583
X-1720324-A-C p.Asp642Ala missense AKAP17A 1 76074 1.31451E-5 38037 0 NA
X-1720333-G-C p.Arg645Pro missense AKAP17A 1 75344 1.32725E-5 37672 0 4.83087E-6
X-1720333-G-A p.Arg645Gln missense AKAP17A 2 75344 2.65449E-5 37672 0 8.37147E-5
X-1720335-T-A p.Ser646Thr missense AKAP17A 1 75092 1.3317E-5 37546 0 NA
X-1720337-C-T p.Ser646Ser synonymous AKAP17A 2 75036 2.66539E-5 37518 0 1.39012E-5
X-1720338-C-T p.Arg647Trp missense AKAP17A 2 74902 2.67016E-5 37451 0 2.79322E-5
X-1720339-G-A p.Arg647Gln missense AKAP17A 5 74808 6.68378E-5 37404 0 5.59816E-5
X-1720345-C-T p.Ser649Phe missense AKAP17A 11 74170 1.48308E-4 37085 0 9.56877E-5
X-1720358-CAGGCACCGG-C p.His655_Arg657del conservative_inframe_deletion AKAP17A 1 73198 1.36616E-5 36599 0 3.18959E-5
X-1720358-C-G p.Asp653Glu missense AKAP17A 1 73198 1.36616E-5 36599 0 4.81301E-6
X-1720365-C-T p.Arg656Trp missense AKAP17A 5 71666 6.97681E-5 35833 0 0.00128205
X-1720366-G-A p.Arg656Gln missense AKAP17A 2 71794 2.78575E-5 35897 0 6.68114E-5
X-1720368-AGGGAGCGGAGCC-A p.Ser660_Arg663del disruptive_inframe_deletion AKAP17A 1 71506 1.39848E-5 35753 0 1.66495E-5
X-1720374-C-T p.Arg659Trp missense AKAP17A 2 70100 2.85307E-5 35050 0 2.33276E-4
X-1720375-G-A p.Arg659Gln missense AKAP17A 2 70318 2.84422E-5 35159 0 5.54959E-5
X-1720375-G-T p.Arg659Leu missense AKAP17A 1 70318 1.42211E-5 35159 0 NA
X-1720379-C-T p.Ser660Ser synonymous AKAP17A 12 69674 1.72231E-4 34837 0 1.70351E-4
X-1720380-C-T p.Arg661Trp missense AKAP17A 2 69392 2.88218E-5 34696 0 5.35946E-6
X-1720381-G-A p.Arg661Gln missense AKAP17A 9 69372 1.29735E-4 34686 0 0.00158353
X-1720383-G-A p.Glu662Lys missense AKAP17A 1 69206 1.44496E-5 34603 0 3.18837E-5
X-1720387-G-A p.Arg663Gln missense AKAP17A 3 68366 4.38815E-5 34183 0 4.28449E-5
X-1720393-G-T p.Gly665Val missense AKAP17A 2 67186 2.97681E-5 33593 0 NA
X-1720397-C-T p.Ser666Ser synonymous AKAP17A 3 66330 4.52284E-5 33165 0 4.72801E-4
X-1720398-G-A p.Ala667Thr missense AKAP17A 30 66022 4.54394E-4 33011 0 0.00127551
X-1720403-C-T p.Ser668Ser synonymous AKAP17A 2 65804 3.03933E-5 32902 0 9.56694E-5
X-1720406-G-C p.Arg669Ser missense AKAP17A 2 65474 3.05465E-5 32737 0 7.29341E-6
X-1720414-GCCGCCA-G p.His674_Arg675del disruptive_inframe_deletion AKAP17A 1 63910 1.5647E-5 31955 0 NA
X-1720415-C-T p.Ser672Ser synonymous AKAP17A 15 63804 2.35095E-4 31902 0 6.69686E-4
X-1720416-C-T p.Arg673Cys missense AKAP17A 2 63276 3.16076E-5 31638 0 8.70277E-6
X-1720417-G-A p.Arg673His missense AKAP17A 11 63038 1.74498E-4 31519 0 5.10204E-4
X-1720422-C-T p.Arg675Cys missense AKAP17A 532 61852 0.00860118 30926 1 0.0217216
X-1720423-G-A p.Arg675His missense AKAP17A 1 61452 1.62729E-5 30726 0 8.07428E-5
X-1720426-G-A p.Arg676His missense AKAP17A 2 60570 3.30196E-5 30285 0 6.37633E-5
X-1720428-C-T p.Arg677* stop_gained AKAP17A 3 59886 5.00952E-5 29943 0 3.66347E-5
X-1720429-G-A p.Arg677Gln missense AKAP17A 8 59886 1.33587E-4 29943 0 6.5189E-4
X-1720433-C-T p.Ser678Ser synonymous AKAP17A 4 58700 6.81431E-5 29350 0 1.44634E-4
X-1720434-G-A p.Glu679Lys missense AKAP17A 3 58668 5.11352E-5 29334 0 6.58762E-4
X-1720436-G-A p.Glu679Glu synonymous AKAP17A 1 58182 1.71874E-5 29091 0 3.18898E-5
X-1720437-C-T p.Arg680Trp missense AKAP17A 3 57816 5.18888E-5 28908 0 1.27616E-4
X-1720438-G-A p.Arg680Gln missense AKAP17A 1 57576 1.73683E-5 28788 0 6.60502E-4
X-1720441-C-T p.Ser681Leu missense AKAP17A 1 56730 1.76274E-5 28365 0 3.18918E-5
X-1720442-G-A p.Ser681Ser synonymous AKAP17A 48 56230 8.53637E-4 28115 0 0.00397141
X-1720443-C-T p.Arg682Cys missense AKAP17A 3 55778 5.37846E-5 27889 0 5.50418E-5
X-1720444-G-A p.Arg682His missense AKAP17A 6 55448 1.08209E-4 27724 0 0.00398724
X-1720444-G-T p.Arg682Leu missense AKAP17A 1 55450 1.80343E-5 27725 0 NA
X-1720449-C-T p.Arg684Trp missense AKAP17A 23 54870 4.19173E-4 27435 0 0.0024
X-1720450-G-A p.Arg684Gln missense AKAP17A 3 54460 5.50863E-5 27230 0 2.45158E-4
X-1720457-G-A p.Pro686Pro synonymous AKAP17A 3 53310 5.62746E-5 26655 0 0.00239425
X-1720459-G-A p.Ser687Asn missense AKAP17A 3 52792 5.68268E-5 26396 0 7.22648E-5
X-1720468-G-A p.Arg690His missense AKAP17A 2 50756 3.94042E-5 25378 0 0.00402253
X-1720481-C-T p.Asn694Asn synonymous AKAP17A 1 48712 2.05288E-5 24356 0 NA
X-1721393-T-G c.*1906T>G splice_region AKAP17A 33 3104 0.0106314 1552 0 0.0083774