Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-40736226-C-T c.*3553G>A splice_region AKT2 1 2920 3.42466E-4 1460 0 3.1837E-5
19-40739662-G-A n.982C>T splice_region AKT2 3 77868 3.85267E-5 38934 0 6.45911E-5
19-40739663-G-C n.981C>G splice_region AKT2 9 77912 1.15515E-4 38956 0 1.29266E-4
19-40739785-G-A p.Arg437Arg synonymous AKT2 1 80272 1.24576E-5 40136 0 1.6726E-5
19-40739786-C-T p.Arg437His missense AKT2 1 80238 1.24629E-5 40119 0 4.06362E-6
19-40739812-G-A p.Pro428Pro synonymous AKT2 3 79846 3.75723E-5 39923 0 NA
19-40739826-G-A p.Arg424Trp missense AKT2 13 79500 1.63522E-4 39750 0 0.00152439
19-40739828-T-C p.Gln423Arg missense AKT2 2 79480 2.51636E-5 39740 0 NA
19-40739851-G-A p.Ser415Ser synonymous AKT2 1 78792 1.26916E-5 39396 0 8.52355E-6
19-40739865-G-A c.1238-7C>T splice_region AKT2 15 77894 1.92569E-4 38947 0 3.03717E-4
19-40739866-C-T c.1238-8G>A splice_region AKT2 2 77738 2.57274E-5 38869 0 1.23329E-5
19-40740423-G-A p.Asp105Asp synonymous AKT2 3 2248 0.00133452 1124 0 0.00304878
19-40740782-C-T p.Trp450* stop_gained AKT2 5 72802 6.86794E-5 36401 0 1.50627E-5
19-40740811-G-A p.Pro441Ser missense AKT2 1 77466 1.29089E-5 38733 0 6.8975E-6
19-40740818-GA-AG p.Leu438Pro missense AKT2 1 78432 1.27499E-5 39216 0 NA
19-40740818-G-A p.Leu438Leu synonymous AKT2 1 78432 1.27499E-5 39216 0 3.35755E-5
19-40740819-A-G p.Leu438Pro missense AKT2 1 78460 1.27453E-5 39230 0 3.346E-5
19-40740821-C-G p.Leu437Leu synonymous AKT2 2 78682 2.54188E-5 39341 0 6.64929E-6
19-40740832-A-C p.Ser434Ala missense AKT2 2 79794 2.50645E-5 39897 0 6.31122E-6
19-40740843-A-AC p.Val430fs frameshift AKT2 1 80408 1.24366E-5 40204 0 NA
19-40740845-A-G p.His429His synonymous AKT2 1 80568 1.24119E-5 40284 0 NA
19-40740846-T-C p.His429Arg missense AKT2 66 80600 8.18859E-4 40300 0 5.97788E-4
19-40740851-C-T p.Pro427Pro synonymous AKT2 1 80794 1.23772E-5 40397 0 1.1047E-5
19-40740852-G-A p.Pro427Leu missense AKT2 3 81062 3.70087E-5 40531 0 3.18654E-5
19-40740853-G-A p.Pro427Ser missense AKT2 2 81104 2.46597E-5 40552 0 3.18634E-5
19-40740861-C-T p.Arg424Gln missense AKT2 2 81118 2.46554E-5 40559 0 3.28407E-5
19-40740862-G-A p.Arg424* stop_gained AKT2 4 81220 4.9249E-5 40610 0 4.84238E-6
19-40740869-C-G p.Glu421Asp missense AKT2 1 81690 1.22414E-5 40845 0 2.37169E-5
19-40740876-A-G p.Leu419Pro missense AKT2 1 81874 1.22139E-5 40937 0 NA
19-40740897-C-CCCAT p.Gly412fs frameshift AKT2 2 82488 2.4246E-5 41244 0 NA
19-40740904-C-G p.Gly410Arg missense AKT2 1 82630 1.21021E-5 41315 0 NA
19-40740914-G-A p.Pro406Pro synonymous AKT2 1 82772 1.20814E-5 41386 0 NA
19-40740917-G-A p.Cys405Cys synonymous AKT2 2 82784 2.41593E-5 41392 0 2.11044E-4
19-40740918-C-T p.Cys405Tyr missense AKT2 86 82794 0.00103872 41397 0 0.003125
19-40740920-G-A p.Ala404Ala synonymous AKT2 1 82838 1.20718E-5 41419 0 NA
19-40740928-A-G p.Trp402Arg missense AKT2 1 82894 1.20636E-5 41447 0 NA
19-40740930-C-T p.Arg401His missense AKT2 1 82898 1.2063E-5 41449 0 6.37592E-5
19-40740931-G-A p.Arg401Cys missense AKT2 19 82904 2.29181E-4 41452 0 5.73541E-4
19-40740932-C-T p.Pro400Pro synonymous AKT2 55 82924 6.63258E-4 41462 0 4.96797E-4
19-40740932-C-A p.Pro400Pro synonymous AKT2 1 82928 1.20587E-5 41464 0 NA
19-40740933-G-A p.Pro400Leu missense AKT2 11 82948 1.32613E-4 41474 0 2.23058E-4
19-40740933-G-T p.Pro400Gln missense AKT2 2 82948 2.41115E-5 41474 0 NA
19-40740937-G-A p.Pro399Ser missense AKT2 4 82948 4.8223E-5 41474 0 1.27437E-4
19-40740943-G-A p.Leu397Leu synonymous AKT2 4 83006 4.81893E-5 41503 0 3.18674E-5
19-40740954-C-T p.Arg412His missense+splice_region AKT2 4 83042 4.81684E-5 41521 0 3.18796E-5
19-40740963-G-C p.Pro409Arg missense AKT2 1 83108 1.20325E-5 41554 0 NA
19-40740971-T-G p.Thr406Thr synonymous AKT2 1 83146 1.2027E-5 41573 0 3.97975E-6
19-40740986-G-A p.Thr401Thr synonymous AKT2 2 83204 2.40373E-5 41602 0 6.25E-4
19-40741016-G-A p.Val391Val synonymous AKT2 2 83160 2.405E-5 41580 0 2.4768E-5
19-40741016-G-T p.Val391Val synonymous AKT2 1 83160 1.2025E-5 41580 0 NA
19-40741022-G-A p.Ser389Ser synonymous AKT2 6 83168 7.21431E-5 41584 0 1.3126E-4
19-40741025-C-T p.Thr388Thr synonymous AKT2 1 83182 1.20218E-5 41591 0 8.25355E-6
19-40741026-G-A p.Thr388Met missense AKT2 3 83160 3.6075E-5 41580 0 2.47615E-5
19-40741037-T-C p.Lys384Lys synonymous AKT2 22 83168 2.64525E-4 41584 0 6.39754E-5
19-40741044-G-A p.Pro382Leu missense AKT2 2 83168 2.40477E-5 41584 0 NA
19-40741059-G-A c.1135-5C>T splice_region AKT2 1 83144 1.20273E-5 41572 0 2.47521E-5
19-40741062-G-A c.1135-8C>T splice_region AKT2 1 83144 1.20273E-5 41572 0 NA
19-40741164-G-T c.1134+6C>A splice_region AKT2 1 83074 1.20375E-5 41537 0 NA
19-40741184-C-T p.Val374Met missense AKT2 1 83044 1.20418E-5 41522 0 8.24593E-6
19-40741187-C-T p.Asp373Asn missense AKT2 6 83052 7.22439E-5 41526 0 6.76084E-5
19-40741188-C-T p.Gln372Gln synonymous AKT2 1 83056 1.20401E-5 41528 0 3.18878E-5
19-40741189-T-C p.Gln372Arg missense AKT2 3 83060 3.61185E-5 41530 0 NA
19-40741218-C-T p.Glu362Glu synonymous AKT2 5 82874 6.03326E-5 41437 0 3.97829E-5
19-40741223-T-C p.Met361Val missense AKT2 2 82834 2.41447E-5 41417 0 3.97877E-6
19-40741224-G-A p.Val360Val synonymous AKT2 5 82822 6.03704E-5 41411 0 3.18817E-5
19-40741234-G-A p.Ala357Val missense AKT2 3 82670 3.62889E-5 41335 0 NA
19-40741238-C-T p.Asp356Asn missense AKT2 1 82604 1.2106E-5 41302 0 NA
19-40741239-G-T p.Ser355Arg missense AKT2 2 82534 2.42324E-5 41267 0 NA
19-40741372-CCACTT-C p.Ser47fs frameshift AKT2 2 65754 3.04164E-5 32877 0 1.27518E-4
19-40741375-C-G c.141-1G>C splice_acceptor AKT2 3 64120 4.67873E-5 32060 0 4.04596E-5
19-40741805-G-C p.Pro346Pro synonymous AKT2 1 80842 1.23698E-5 40421 0 NA
19-40741808-G-A p.Asp345Asp synonymous AKT2 1 80980 1.23487E-5 40490 0 NA
19-40741818-A-T p.Leu342His missense AKT2 1 81686 1.2242E-5 40843 0 4.02188E-6
19-40741828-C-A p.Ala339Ser missense AKT2 7 82088 8.52743E-5 41044 0 6.37836E-5
19-40741834-G-A p.Leu337Leu synonymous AKT2 1 82402 1.21356E-5 41201 0 NA
19-40741847-G-A p.Pro332Pro synonymous AKT2 7 82688 8.46556E-5 41344 0 6.70252E-5
19-40741855-G-C p.Leu330Val missense AKT2 2 82910 2.41225E-5 41455 0 3.18959E-5
19-40741857-G-A p.Thr329Met missense AKT2 4 82936 4.823E-5 41468 0 5.04032E-4
19-40741860-C-T p.Arg328His missense AKT2 1 82960 1.2054E-5 41480 0 3.19142E-5
19-40741862-C-A p.Pro327Pro synonymous AKT2 104 82978 0.00125334 41489 0 0.00430952
19-40741862-C-T p.Pro327Pro synonymous AKT2 4 82980 4.82044E-5 41490 0 7.17406E-5
19-40741865-G-A p.Phe326Phe synonymous AKT2 1 83030 1.20438E-5 41515 0 3.32298E-5
19-40741870-G-A p.Arg325Cys missense AKT2 1 83090 1.20351E-5 41545 0 8.29559E-6
19-40741882-T-G p.Met321Leu missense AKT2 1 83166 1.20241E-5 41583 0 NA
19-40741893-T-G p.Glu317Ala missense AKT2 2 83170 2.40471E-5 41585 0 3.58192E-5
19-40741901-G-T p.Arg314Arg synonymous AKT2 1 83192 1.20204E-5 41596 0 1.65379E-5
19-40741932-C-T p.Arg304His missense AKT2 1 83176 1.20227E-5 41588 0 NA
19-40741936-C-T p.Gly303Ser missense AKT2 2 83168 2.40477E-5 41584 0 NA
19-40741937-G-A p.Cys302Cys synonymous AKT2 4 83154 4.81035E-5 41577 0 3.19061E-5
19-40741948-C-A p.Glu299* stop_gained AKT2 1 83176 1.20227E-5 41588 0 NA
19-40741949-G-A p.Tyr298Tyr synonymous AKT2 1 83168 1.20239E-5 41584 0 9.57121E-5
19-40741953-A-G p.Met297Thr missense AKT2 1 83168 1.20239E-5 41584 0 8.25832E-6
19-40741964-C-T p.Leu293Leu synonymous AKT2 12 83176 1.44272E-4 41588 0 9.56755E-5
19-40741982-G-A p.Ala287Ala synonymous AKT2 2 83130 2.40587E-5 41565 0 1.03492E-4
19-40741998-T-C p.Asn282Ser missense AKT2 1 83132 1.20291E-5 41566 0 3.18857E-5
19-40742012-C-CT c.832-2dupA splice_acceptor AKT2 11 83054 1.32444E-4 41527 0 NA
19-40742137-G-T n.636+8C>A splice_region AKT2 1 82704 1.20913E-5 41352 0 NA
19-40742144-C-A n.636+1G>T splice_donor AKT2 6 82792 7.24708E-5 41396 0 6.38244E-5
19-40742161-C-T c.*574+3G>A splice_region AKT2 239 82940 0.0028816 41470 1 0.00944584
19-40742170-C-T p.Ala318Ala synonymous AKT2 5 83072 6.01888E-5 41536 0 8.25001E-6
19-40742179-C-T p.Glu315Glu synonymous AKT2 49 83162 5.89211E-4 41581 0 0.00191314
19-40742207-G-C p.Thr306Ser missense AKT2 1 83232 1.20146E-5 41616 0 1.51186E-4
19-40742215-G-A p.Asp303Asp synonymous AKT2 7 83228 8.41063E-5 41614 0 7.95729E-6
19-40742253-T-C p.Ile291Val missense AKT2 2 83188 2.40419E-5 41594 0 8.25191E-6
19-40742255-T-C p.Lys290Arg missense AKT2 15 83184 1.80323E-4 41592 0 4.9509E-5
19-40742260-G-A p.His288His synonymous AKT2 1 83178 1.20224E-5 41589 0 NA
19-40743872-T-C c.831+4A>G splice_region AKT2 7 82728 8.46146E-5 41364 0 1.59838E-4
19-40743876-C-T p.Lys277Lys splice_region+synonymous AKT2 1 82786 1.20793E-5 41393 0 NA
19-40743879-G-A p.Ile276Ile synonymous AKT2 1 82796 1.20779E-5 41398 0 3.1839E-5
19-40743885-G-C p.Arg274Arg synonymous AKT2 1 82768 1.2082E-5 41384 0 3.18532E-5
19-40743887-G-A p.Arg274Cys missense AKT2 1 82768 1.2082E-5 41384 0 3.18593E-5
19-40743896-C-T p.Val271Met missense AKT2 6 82738 7.25181E-5 41369 0 8.00384E-6
19-40743897-G-A c.*164C>T splice_region AKT2 12 82736 1.4504E-4 41368 0 5.03525E-4
19-40743903-C-T p.Ser268Ser synonymous AKT2 3 82694 3.62783E-5 41347 0 2.4036E-5
19-40743903-C-A p.Ser268Ser synonymous AKT2 1 82694 1.20928E-5 41347 0 NA
19-40743904-G-A p.Ser268Leu missense AKT2 1 82684 1.20942E-5 41342 0 3.2059E-5
19-40743915-C-T p.Glu264Glu synonymous AKT2 1 82694 1.20928E-5 41347 0 1.20394E-5
19-40743949-C-T p.Arg253Gln missense AKT2 2 82446 2.42583E-5 41223 0 6.25E-4
19-40743958-T-C p.Glu250Gly missense AKT2 1 82304 1.21501E-5 41152 0 NA
19-40743963-T-C p.Thr248Thr synonymous AKT2 1 82268 1.21554E-5 41134 0 3.91206E-5
19-40743973-C-T p.Arg245His missense AKT2 3 82112 3.65355E-5 41056 0 3.1837E-5
19-40743978-C-T p.Arg243Arg synonymous AKT2 1 82012 1.21933E-5 41006 0 NA
19-40743996-C-G p.Leu237Leu splice_region+synonymous AKT2 14 81608 1.71552E-4 40804 0 0.0040404
19-40744001-G-A c.709-3C>T splice_region AKT2 2 81420 2.4564E-5 40710 0 3.18431E-5
19-40744001-G-C c.709-3C>G splice_region AKT2 25 81422 3.07042E-4 40711 0 0.00125
19-40744804-C-T c.708+8G>A splice_region AKT2 1 82422 1.21327E-5 41211 0 3.30595E-5
19-40744811-C-G c.708+1G>C splice_donor AKT2 1 82508 1.212E-5 41254 0 NA
19-40744821-G-A p.Asn233Asn synonymous AKT2 3 82498 3.63645E-5 41249 0 5.78197E-5
19-40744822-T-C p.Asn233Ser missense AKT2 2 82568 2.42225E-5 41284 0 7.95919E-6
19-40744850-G-A p.Arg224Cys missense AKT2 1 82426 1.21321E-5 41213 0 3.98229E-6
19-40744854-G-A p.His222His synonymous AKT2 53 82140 6.4524E-4 41070 2 0.00287722
19-40744863-G-A p.Phe219Phe synonymous AKT2 5 82018 6.09622E-5 41009 0 1.65442E-5
19-40744879-G-A p.Ala214Val missense+splice_region AKT2 6 81428 7.36847E-5 40714 0 6.37877E-5
19-40744879-G-T p.Ala214Glu missense+splice_region AKT2 1 81430 1.22805E-5 40715 0 0.00100806
19-40744887-G-T c.640-7C>A splice_region AKT2 1 81096 1.23311E-5 40548 0 NA
19-40745948-TCA-T c.639+2_639+3delTG splice_donor AKT2 1 83228 1.20152E-5 41614 0 NA
19-40745961-C-T p.Arg125His missense AKT2 1 83250 1.2012E-5 41625 0 3.18674E-5
19-40745968-C-T p.Arg208Lys missense AKT2 40 83270 4.80365E-4 41635 0 2.88446E-4
19-40745979-G-C p.Ser119Cys missense AKT2 2 83270 2.40183E-5 41635 0 NA
19-40745985-C-T p.Gly117Glu missense AKT2 3 83270 3.60274E-5 41635 0 5.03525E-4
19-40745994-G-A p.Pro114Leu missense AKT2 13 83274 1.56111E-4 41637 0 4.03804E-4
19-40745999-C-T p.Val198Ile missense AKT2 2 83268 2.40188E-5 41634 0 8.24103E-6
19-40746021-C-T p.Cys105Tyr missense AKT2 1 83220 1.20163E-5 41610 0 NA
19-40746032-C-T c.307-4G>A splice_region AKT2 9 83156 1.0823E-4 41578 0 0.00187735
19-40746033-G-C c.307-5C>G splice_region AKT2 3 83158 3.60759E-5 41579 0 7.41828E-5
19-40746033-G-A c.307-5C>T splice_region AKT2 2 83160 2.405E-5 41580 0 1.64851E-5
19-40746164-C-A n.38+5G>T splice_region AKT2 1 75488 1.32471E-5 37744 0 NA
19-40747837-G-A c.573+8C>T splice_region AKT2 1 81586 1.2257E-5 40793 0 6.37024E-5
19-40747840-C-T c.573+5G>A splice_region AKT2 4 81610 4.90136E-5 40805 0 3.34795E-5
19-40747846-T-C p.Lys191Arg missense+splice_region AKT2 1 82044 1.21886E-5 41022 0 3.33167E-5
19-40747852-A-G p.Ile189Thr missense AKT2 1 82326 1.21468E-5 41163 0 6.25E-4
19-40747867-C-T p.Arg184Gln missense+splice_region AKT2 1 82748 1.20849E-5 41374 0 3.98023E-6
19-40747891-C-T p.Arg176His missense AKT2 1 83022 1.2045E-5 41511 0 1.6518E-5
19-40747896-A-G p.Thr174Thr synonymous AKT2 3 83070 3.61141E-5 41535 0 8.25668E-6
19-40747910-G-A p.Arg170Trp missense AKT2 1 83048 1.20412E-5 41524 0 2.78452E-5
19-40747914-C-G p.Leu1? start_lost AKT2 1 83118 1.20311E-5 41559 0 3.97738E-6
19-40747929-A-G p.Phe163Phe synonymous AKT2 3 83116 3.60941E-5 41558 0 NA
19-40747932-G-A p.Thr162Thr synonymous AKT2 1 83122 1.20305E-5 41561 0 7.95469E-6
19-40747934-T-C p.Thr162Ala missense AKT2 1 83134 1.20288E-5 41567 0 NA
19-40747951-T-C p.Lys156Arg missense AKT2 1 83104 1.20331E-5 41552 0 1.98853E-5
19-40747983-G-A c.442-7C>T splice_region AKT2 1 82930 1.20584E-5 41465 0 NA
19-40747984-G-A c.442-8C>T splice_region AKT2 64 82918 7.71847E-4 41459 0 0.00105116
19-40748444-T-C p.Lys146Lys synonymous AKT2 5 81540 6.13196E-5 40770 0 8.01057E-6
19-40748451-C-T p.Arg144Gln missense AKT2 1 81664 1.22453E-5 40832 0 NA
19-40748452-G-A p.Arg144Trp missense AKT2 3 81668 3.67341E-5 40834 0 8.25696E-6
19-40748461-T-A p.Ser141Cys missense AKT2 2 81800 2.44499E-5 40900 0 NA
19-40748465-C-T p.Ala139Ala synonymous AKT2 1 81918 1.22073E-5 40959 0 1.6506E-5
19-40748481-T-G p.Glu134Ala missense+splice_region AKT2 1 82228 1.21613E-5 41114 0 1.27567E-4
19-40748486-C-A p.Thr132Thr splice_region+synonymous AKT2 2 82288 2.43049E-5 41144 0 3.98734E-6
19-40748487-G-A p.Thr132Met missense AKT2 4 82332 4.85838E-5 41166 0 9.56206E-5
19-40748495-G-A p.Asp129Asp synonymous AKT2 1 82500 1.21212E-5 41250 0 3.98502E-6
19-40748502-G-A p.Pro127Leu missense AKT2 1 82616 1.21042E-5 41308 0 NA
19-40748517-T-C p.Tyr122Cys missense AKT2 1 82750 1.20846E-5 41375 0 1.63383E-4
19-40748518-A-G p.Tyr122His missense AKT2 2 82746 2.41704E-5 41373 0 4.95099E-5
19-40748523-A-G p.Met120Thr missense AKT2 1 82764 1.20825E-5 41382 0 NA
19-40748530-C-T p.Asp118Asn missense AKT2 2 82672 2.4192E-5 41336 0 2.47701E-5
19-40748533-C-T p.Glu117Lys missense AKT2 2 82656 2.41967E-5 41328 0 3.19061E-5
19-40748535-C-G p.Gly116Ala missense AKT2 31 82638 3.7513E-4 41319 0 2.91247E-4
19-40748542-C-A p.Ala114Ser missense AKT2 2 82600 2.42131E-5 41300 0 5.03525E-4
19-40748545-G-A p.Arg113Trp missense AKT2 1 82536 1.21159E-5 41268 0 1.19954E-5
19-40748559-T-C p.Asn108Ser missense AKT2 1 82314 1.21486E-5 41157 0 NA
19-40748564-G-A p.Arg48Cys missense AKT2 7 82126 8.52349E-5 41063 0 1.27575E-4
19-40748564-G-C p.Arg48Gly missense AKT2 1 82126 1.21764E-5 41063 0 1.65744E-5
19-40748568-A-G p.Met105Thr missense AKT2 1 82084 1.21826E-5 41042 0 1.20444E-5
19-40748579-C-T p.Gly43Ser missense AKT2 2 81848 2.44355E-5 40924 0 NA
19-40748580-C-T p.Arg101Gln missense AKT2 1 81810 1.22234E-5 40905 0 NA
19-40748581-G-A p.Arg101Trp missense AKT2 8 81748 9.78617E-5 40874 0 4.84312E-5
19-40748600-C-G c.288-6G>C splice_region AKT2 1 81230 1.23107E-5 40615 0 3.18776E-5
19-40750323-T-TA c.150-3_150-2insT splice_region AKT2 1 8 0.125 4 0 0.00115353
19-40761069-C-T p.Glu95Lys missense AKT2 2 83078 2.40738E-5 41539 0 4.94275E-5
19-40761070-G-A p.Arg36* stop_gained AKT2 76 83088 9.14693E-4 41544 1 0.00100705
19-40761085-G-A p.Arg31Cys missense AKT2 2 83136 2.4057E-5 41568 0 6.36902E-5
19-40761087-G-A p.His89Tyr missense AKT2 2 83150 2.40529E-5 41575 0 NA
19-40761100-G-A p.Arg26* stop_gained AKT2 2 83180 2.40442E-5 41590 0 NA
19-40761136-G-T p.Leu14Ile missense AKT2 4 83130 4.81174E-5 41565 0 4.11855E-5
19-40761140-T-C p.Asn71Ser missense AKT2 9 83102 1.08301E-4 41551 0 2.18705E-4
19-40761144-G-C p.Pro70Ala missense AKT2 2 83074 2.40749E-5 41537 0 3.18492E-5
19-40761148-C-T p.Ala10Thr missense AKT2 8 82994 9.63925E-5 41497 0 4.46002E-4
19-40761157-G-A p.Arg7* stop_gained AKT2 1 82860 1.20685E-5 41430 0 3.18552E-5
19-40761204-G-A p.Pro60Ser missense+splice_region AKT2 1 80578 1.24103E-5 40289 0 1.65052E-5
19-40761209-G-A c.176-3C>T splice_region AKT2 1 80044 1.24931E-5 40022 0 3.9887E-6
19-40761212-G-A c.176-6C>T splice_region AKT2 7565 78832 0.0959636 39416 274 0.119375
19-40761212-GGG-AGC c.176-8_176-6delCCCinsGCT splice_region AKT2 6 79670 7.53107E-5 39835 0 NA
19-40761213-G-T c.176-7C>A splice_region AKT2 4 79516 5.03043E-5 39758 0 7.58701E-5
19-40762839-C-T p.Val57Ile missense AKT2 2 83368 2.399E-5 41684 0 7.95273E-6
19-40762840-G-A c.-9C>T 5_prime_UTR_premature_start_codon_gain AKT2 3 83376 3.59816E-5 41688 0 4.11848E-5
19-40762855-G-C p.Pro51Pro synonymous AKT2 1 83384 1.19927E-5 41692 0 8.23683E-6
19-40762857-G-C p.Pro51Ala missense AKT2 1 83380 1.19933E-5 41690 0 1.1929E-5
19-40762858-G-A p.Pro50Pro synonymous AKT2 1 83382 1.1993E-5 41691 0 NA
19-40762860-G-T p.Pro50Thr missense AKT2 4 83382 4.7972E-5 41691 0 0.0019428
19-40762862-A-T p.Leu49Gln missense AKT2 3 83390 3.59755E-5 41695 0 6.36983E-5
19-40762876-G-A p.Ala44Ala synonymous AKT2 2 83380 2.39866E-5 41690 0 3.97649E-6
19-40762912-G-A c.-81C>T 5_prime_UTR_premature_start_codon_gain AKT2 1 83376 1.19939E-5 41688 0 1.35199E-4
19-40762915-G-A p.Ser31Ser synonymous AKT2 250 83368 0.00299875 41684 1 0.011875
19-40771134-T-G p.Lys14Thr missense AKT2 1 82618 1.21039E-5 41309 0 4.01658E-6
19-40771156-T-C p.Ile7Val missense AKT2 1 82616 1.21042E-5 41308 0 1.2738E-4
19-40771184-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain AKT2 1 82278 1.21539E-5 41139 0 3.18593E-5
19-40771206-G-A c.-32C>T 5_prime_UTR_premature_start_codon_gain AKT2 2 82018 2.43849E-5 41009 0 4.14065E-5
19-40771255-C-T c.-81G>A 5_prime_UTR_premature_start_codon_gain AKT2 2 80000 2.5E-5 40000 0 NA
19-40771256-A-G c.-82T>C splice_region AKT2 3 79936 3.753E-5 39968 0 NA
19-40771265-G-C c.-84-7C>G splice_region AKT2 1 79278 1.26138E-5 39639 0 NA
19-40771285-G-T c.-111C>A 5_prime_UTR_premature_start_codon_gain AKT2 1 77006 1.2986E-5 38503 0 NA
19-40771328-G-A c.-154C>T 5_prime_UTR_premature_start_codon_gain AKT2 5 66598 7.50773E-5 33299 0 3.18593E-5
19-40771390-G-A c.-216C>T 5_prime_UTR_premature_start_codon_gain AKT2 5 43102 1.16004E-4 21551 0 3.18654E-4
19-40788155-G-A c.-116C>T 5_prime_UTR_premature_start_codon_gain AKT2 6 6212 9.65872E-4 3106 0 0.00312102
19-40788197-G-A c.-158C>T 5_prime_UTR_premature_start_codon_gain AKT2 1 7728 1.294E-4 3864 0 9.55536E-5
19-40788247-G-C c.-208C>G 5_prime_UTR_premature_start_codon_gain AKT2 2 10746 1.86116E-4 5373 0 NA
19-40788615-C-T c.-313G>A splice_region AKT2 6 53068 1.13062E-4 26534 0 3.18512E-4
19-40788644-G-A c.-342C>T 5_prime_UTR_premature_start_codon_gain AKT2 59 48102 0.00122656 24051 0 0.00172029