Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-2938116-C-T c.-135C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 1 75428 1.32577E-5 37714 0 NA
1-2938122-C-T c.-129C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 2 76028 2.63061E-5 38014 0 NA
1-2938149-C-T c.-102C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 1 78390 1.27567E-5 39195 0 NA
1-2938181-A-G c.-70A>G 5_prime_UTR_premature_start_codon_gain ACTRT2 1 79834 1.2526E-5 39917 0 NA
1-2938200-C-T c.-51C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 1 80372 1.24421E-5 40186 0 3.18857E-5
1-2938252-T-C p.Met1? start_lost ACTRT2 2 80894 2.47237E-5 40447 0 3.18857E-5
1-2938262-G-T p.Pro4Pro synonymous ACTRT2 12 80890 1.4835E-4 40445 0 NA
1-2938262-G-A p.Pro4Pro synonymous ACTRT2 5 80890 6.18123E-5 40445 0 5.03525E-4
1-2938265-C-T p.His5His synonymous ACTRT2 13111 80324 0.163226 40162 1121 0.196088
1-2938266-G-A p.Ala6Thr missense ACTRT2 10 80890 1.23625E-4 40445 0 2.60229E-4
1-2938270-T-C p.Leu7Ser missense ACTRT2 2 80894 2.47237E-5 40447 0 3.99281E-6
1-2938279-C-T p.Pro10Leu missense ACTRT2 1 80888 1.23628E-5 40444 0 8.335E-6
1-2938279-C-G p.Pro10Arg missense ACTRT2 8 80888 9.89022E-5 40444 0 8.335E-6
1-2938280-G-A p.Pro10Pro synonymous ACTRT2 1 80882 1.23637E-5 40441 0 8.32834E-6
1-2938283-T-C p.Ala11Ala synonymous ACTRT2 1 80890 1.23625E-5 40445 0 8.31781E-6
1-2938293-G-T p.Asp15Tyr missense ACTRT2 4 80882 4.94548E-5 40441 0 9.13727E-5
1-2938304-G-C p.Ser18Ser synonymous ACTRT2 2 80832 2.47427E-5 40416 0 6.66778E-5
1-2938311-T-C p.Cys21Arg missense ACTRT2 2 80830 2.47433E-5 40415 0 3.99026E-6
1-2938314-A-G p.Lys22Glu missense ACTRT2 1 80816 1.23738E-5 40408 0 NA
1-2938316-A-G p.Lys22Lys synonymous ACTRT2 1 80822 1.23729E-5 40411 0 8.30317E-6
1-2938318-C-T p.Ala23Val missense ACTRT2 5 80798 6.18827E-5 40399 0 2.54956E-4
1-2938319-G-A p.Ala23Ala synonymous ACTRT2 32 80806 3.9601E-4 40403 0 4.14541E-4
1-2938335-T-G p.Phe29Val missense ACTRT2 1 80742 1.23851E-5 40371 0 1.19607E-5
1-2938344-C-G p.Arg32Gly missense ACTRT2 1 80652 1.23989E-5 40326 0 NA
1-2938345-G-T p.Arg32Leu missense ACTRT2 1 80628 1.24026E-5 40314 0 3.18796E-5
1-2938351-T-C p.Met34Thr missense ACTRT2 1 80626 1.24029E-5 40313 0 3.98486E-6
1-2938354-T-A p.Val35Asp missense ACTRT2 2 80600 2.48139E-5 40300 0 3.18898E-5
1-2938365-G-A p.Val39Met missense ACTRT2 1 80420 1.24347E-5 40210 0 9.56572E-5
1-2938386-G-A p.Ala46Thr missense ACTRT2 1 80274 1.24573E-5 40137 0 NA
1-2938395-G-A p.Ala49Thr missense ACTRT2 135 80266 0.00168191 40133 1 0.00363321
1-2938407-CAGA-C p.Lys55del conservative_inframe_deletion ACTRT2 11317 80022 0.141424 40011 916 0.162536
1-2938416-T-C p.Tyr56His missense ACTRT2 223 80382 0.00277425 40191 0 0.00261747
1-2938419-T-G p.Phe57Val missense ACTRT2 3 80402 3.73125E-5 40201 0 3.98156E-6
1-2938420-T-C p.Phe57Ser missense ACTRT2 2 80392 2.48781E-5 40196 0 2.48053E-5
1-2938420-T-A p.Phe57Tyr missense ACTRT2 1 80392 1.2439E-5 40196 0 6.76843E-5
1-2938422-G-A p.Val58Met missense ACTRT2 4 80412 4.97438E-5 40206 0 6.25E-4
1-2938422-G-T p.Val58Leu missense ACTRT2 1 80412 1.2436E-5 40206 0 3.58306E-5
1-2938424-G-T p.Val58Val synonymous ACTRT2 28 80424 3.48155E-4 40212 0 6.05945E-4
1-2938424-G-C p.Val58Val synonymous ACTRT2 1 80424 1.24341E-5 40212 0 3.18918E-5
1-2938427-G-A p.Gly59Gly synonymous ACTRT2 3 80422 3.73032E-5 40211 0 6.37674E-5
1-2938428-G-A p.Glu60Lys missense ACTRT2 11 80408 1.36802E-4 40204 2 0.00151057
1-2938430-G-C p.Glu60Asp missense ACTRT2 1 80414 1.24356E-5 40207 0 NA
1-2938462-T-G p.Leu71Arg missense ACTRT2 1 80778 1.23796E-5 40389 0 NA
1-2938463-G-A p.Leu71Leu synonymous ACTRT2 5 80784 6.18934E-5 40392 0 6.37389E-5
1-2938466-C-T p.His72His synonymous ACTRT2 1 80808 1.2375E-5 40404 0 3.97981E-6
1-2938471-C-T p.Pro74Leu missense ACTRT2 1 80818 1.23735E-5 40409 0 7.959E-6
1-2938473-T-C p.Phe75Leu missense ACTRT2 1 80838 1.23704E-5 40419 0 NA
1-2938475-C-T p.Phe75Phe synonymous ACTRT2 3 80834 3.71131E-5 40417 0 5.7793E-5
1-2938476-G-A p.Glu76Lys missense ACTRT2 1 80824 1.23726E-5 40412 0 3.5816E-5
1-2938480-G-A p.Arg77His missense ACTRT2 2 80846 2.47384E-5 40423 0 1.56849E-4
1-2938484-C-A p.Gly78Gly synonymous ACTRT2 1 80866 1.23661E-5 40433 0 NA
1-2938493-A-G p.Thr81Thr synonymous ACTRT2 2 80884 2.47268E-5 40442 0 3.18898E-5
1-2938497-T-C p.Trp83Arg missense ACTRT2 6 80878 7.41858E-5 40439 0 4.95426E-5
1-2938499-G-A p.Trp83* stop_gained ACTRT2 1 80876 1.23646E-5 40438 0 NA
1-2938505-C-T p.Asp85Asp synonymous ACTRT2 1 80888 1.23628E-5 40444 0 1.65131E-5
1-2938505-C-G p.Asp85Glu missense ACTRT2 1 80888 1.23628E-5 40444 0 3.18857E-5
1-2938506-G-A p.Val86Met missense ACTRT2 135 80884 0.00166906 40442 1 0.00356802
1-2938507-T-C p.Val86Ala missense ACTRT2 5 80892 6.18108E-5 40446 0 1.23842E-4
1-2938509-G-A p.Glu87Lys missense ACTRT2 1 80890 1.23625E-5 40445 0 NA
1-2938536-T-A p.Trp96Arg missense ACTRT2 1 80862 1.23667E-5 40431 0 NA
1-2938546-G-C p.Gly99Ala missense ACTRT2 1 80834 1.2371E-5 40417 0 NA
1-2938547-C-T p.Gly99Gly synonymous ACTRT2 1 80822 1.23729E-5 40411 0 3.30355E-5
1-2938547-C-A p.Gly99Gly synonymous ACTRT2 1 80822 1.23729E-5 40411 0 3.98076E-6
1-2938550-G-A p.Val100Val synonymous ACTRT2 2 80844 2.4739E-5 40422 0 NA
1-2938560-G-A p.Asp104Asn missense ACTRT2 3 80812 3.71232E-5 40406 0 3.30409E-5
1-2938561-A-G p.Asp104Gly missense ACTRT2 2 80812 2.47488E-5 40406 0 NA
1-2938569-C-T p.Leu107Leu synonymous ACTRT2 2285 80776 0.0282881 40388 57 0.0589124
1-2938579-C-T p.Thr110Met missense ACTRT2 2 80818 2.4747E-5 40409 0 3.18634E-5
1-2938580-G-A p.Thr110Thr synonymous ACTRT2 138 80782 0.0017083 40391 2 0.00366382
1-2938597-C-T p.Pro116Leu missense ACTRT2 1 80748 1.23842E-5 40374 0 5.78417E-5
1-2938605-A-G p.Asn119Asp missense ACTRT2 1 80734 1.23864E-5 40367 0 8.26487E-6
1-2938608-C-T p.Arg120Cys missense ACTRT2 1 80726 1.23876E-5 40363 0 3.58263E-5
1-2938609-G-A p.Arg120His missense ACTRT2 7 80726 8.67131E-5 40363 0 1.27429E-4
1-2938609-G-T p.Arg120Leu missense ACTRT2 1 80726 1.23876E-5 40363 0 3.98111E-6
1-2938610-T-G p.Arg120Arg synonymous ACTRT2 1 80732 1.23867E-5 40366 0 3.98076E-6
1-2938611-G-A p.Glu121Lys missense ACTRT2 2 80744 2.47696E-5 40372 0 3.98057E-6
1-2938617-A-T p.Met123Leu missense ACTRT2 1 80728 1.23873E-5 40364 0 NA
1-2938618-T-C p.Met123Thr missense ACTRT2 1 80704 1.2391E-5 40352 0 3.98115E-6
1-2938619-G-A p.Met123Ile missense ACTRT2 1 80694 1.23925E-5 40347 0 NA
1-2938631-G-A p.Met127Ile missense ACTRT2 2 80684 2.47881E-5 40342 0 6.25E-4
1-2938634-C-T p.Phe128Phe synonymous ACTRT2 3 80678 3.71849E-5 40339 0 5.03525E-4
1-2938641-T-A p.Phe131Ile missense ACTRT2 5 80680 6.19732E-5 40340 0 0.00100705
1-2938643-C-T p.Phe131Phe synonymous ACTRT2 2 80646 2.47997E-5 40323 0 2.78829E-5
1-2938646-C-T p.Gly132Gly synonymous ACTRT2 4 80600 4.96278E-5 40300 0 1.24129E-4
1-2938647-G-A p.Val133Met missense ACTRT2 4 80622 4.96142E-5 40311 0 5.03525E-4
1-2938653-G-A p.Ala135Thr missense ACTRT2 2 80596 2.48151E-5 40298 0 1.59364E-5
1-2938654-C-T p.Ala135Val missense ACTRT2 1 80628 1.24026E-5 40314 0 3.18552E-5
1-2938662-C-T p.Leu138Leu synonymous ACTRT2 1 80632 1.2402E-5 40316 0 NA
1-2938666-C-T p.Ser139Leu missense ACTRT2 3 80610 3.72162E-5 40305 0 7.45687E-5
1-2938666-C-A p.Ser139* stop_gained ACTRT2 2 80610 2.48108E-5 40305 0 NA
1-2938667-G-A p.Ser139Ser synonymous ACTRT2 4 80598 4.9629E-5 40299 0 4.97059E-5
1-2938686-C-T p.Leu146Phe missense ACTRT2 1 80604 1.24063E-5 40302 0 1.65791E-5
1-2938689-T-A p.Tyr147Asn missense ACTRT2 1 80580 1.241E-5 40290 0 2.79025E-5
1-2938691-C-T p.Tyr147Tyr synonymous ACTRT2 7 80546 8.69069E-5 40273 0 3.18926E-5
1-2938692-G-A p.Ala148Thr missense ACTRT2 1 80498 1.24227E-5 40249 0 2.48715E-5
1-2938697-T-G p.Ser149Ser synonymous ACTRT2 13485 80112 0.168327 40056 1257 0.196732
1-2938697-T-A p.Ser149Ser synonymous ACTRT2 15 80532 1.86261E-4 40266 0 0.00107776
1-2938707-A-G p.Thr153Ala missense ACTRT2 1 80550 1.24146E-5 40275 0 3.98616E-6
1-2938708-C-T p.Thr153Met missense ACTRT2 3 80552 3.7243E-5 40276 0 3.18634E-5
1-2938709-G-A p.Thr153Thr synonymous ACTRT2 1 80542 1.24159E-5 40271 0 3.18552E-5
1-2938713-C-T p.Leu155Leu synonymous ACTRT2 1 80514 1.24202E-5 40257 0 NA
1-2938715-G-C p.Leu155Leu synonymous ACTRT2 1 80512 1.24205E-5 40256 0 3.18552E-5
1-2938716-G-A p.Val156Met missense ACTRT2 3 80476 3.72782E-5 40238 0 3.9861E-6
1-2938727-C-T p.Ser159Ser synonymous ACTRT2 13 80438 1.61615E-4 40219 0 1.27478E-4
1-2938730-G-A p.Gly160Gly synonymous ACTRT2 1 80428 1.24335E-5 40214 0 3.18512E-5
1-2938736-G-A p.Ala162Ala synonymous ACTRT2 3 80364 3.73301E-5 40182 0 0.00100705
1-2938741-C-A p.Thr164Asn missense ACTRT2 1 80338 1.24474E-5 40169 0 NA
1-2938743-T-A p.Cys165Ser missense ACTRT2 2 80356 2.48892E-5 40178 0 9.55901E-5
1-2938747-C-T p.Thr166Ile missense ACTRT2 1 80346 1.24462E-5 40173 0 NA
1-2938748-T-C p.Thr166Thr synonymous ACTRT2 4 80338 4.97896E-5 40169 0 4.156E-5
1-2938772-C-A p.Ser174Ser synonymous ACTRT2 1 80156 1.24757E-5 40078 0 NA
1-2938781-C-T p.His177His synonymous ACTRT2 23 80128 2.87041E-4 40064 0 1.39819E-4
1-2938782-G-A p.Ala178Thr missense ACTRT2 1 80086 1.24866E-5 40043 0 3.18817E-5
1-2938784-A-C p.Ala178Ala synonymous ACTRT2 1 80144 1.24775E-5 40072 0 NA
1-2938793-G-A p.Lys181Lys synonymous ACTRT2 5 80198 6.23457E-5 40099 0 3.18857E-5
1-2938799-C-T p.His183His synonymous ACTRT2 3 80162 3.74242E-5 40081 0 7.52345E-5
1-2938800-G-A p.Val184Met missense ACTRT2 8 80168 9.97904E-5 40084 0 2.87045E-4
1-2938805-G-A p.Ala185Ala synonymous ACTRT2 14 80096 1.7479E-4 40048 0 1.91351E-4
1-2938812-G-A p.Asp188Asn missense ACTRT2 4 80074 4.99538E-5 40037 0 3.18857E-5
1-2938819-C-T p.Thr190Met missense ACTRT2 2 80054 2.49831E-5 40027 0 8.38082E-6
1-2938820-G-A p.Thr190Thr synonymous ACTRT2 3 80034 3.74841E-5 40017 0 4.80377E-5
1-2938838-G-A p.Leu196Leu synonymous ACTRT2 1 79960 1.25063E-5 39980 0 4.0102E-6
1-2938841-C-T p.Leu197Leu synonymous ACTRT2 2 80000 2.5E-5 40000 0 8.41567E-6
1-2938844-G-C p.Leu198Leu synonymous ACTRT2 2 79982 2.50056E-5 39991 0 3.18735E-5
1-2938846-C-G p.Ala199Gly missense ACTRT2 2 79948 2.50163E-5 39974 0 3.18796E-5
1-2938850-C-T p.Ser200Ser synonymous ACTRT2 6 79900 7.50939E-5 39950 0 9.6319E-5
1-2938855-A-T p.His202Leu missense ACTRT2 1 79902 1.25153E-5 39951 0 8.43626E-6
1-2938871-G-A p.Gln207Gln synonymous ACTRT2 2 79838 2.50507E-5 39919 0 NA
1-2938880-G-A p.Lys210Lys synonymous ACTRT2 1 79888 1.25175E-5 39944 0 8.01E-6
1-2938886-C-T p.Leu212Leu synonymous ACTRT2 6 79834 7.51559E-5 39917 0 6.25E-4
1-2938886-C-A p.Leu212Leu synonymous ACTRT2 14 79832 1.75368E-4 39916 0 3.18654E-4
1-2938887-G-A p.Val213Met missense ACTRT2 583 79806 0.00730522 39903 12 0.0144678
1-2938887-G-T p.Val213Leu missense ACTRT2 3 79814 3.75874E-5 39907 0 1.60206E-5
1-2938892-C-T p.Asp214Asp synonymous ACTRT2 1 79852 1.25232E-5 39926 0 8.44338E-6
1-2938893-G-A p.Asp215Asn missense ACTRT2 3 79846 3.75723E-5 39923 0 3.18796E-5
1-2938916-C-T p.Tyr222Tyr synonymous ACTRT2 2 79946 2.50169E-5 39973 0 3.38009E-5
1-2938917-G-A p.Val223Met missense ACTRT2 1 79990 1.25016E-5 39995 0 4.0067E-6
1-2938924-T-G p.Leu225Trp missense ACTRT2 1790 80020 0.0223694 40010 26 0.0523666
1-2938929-C-A p.Pro227Thr missense ACTRT2 1 80050 1.24922E-5 40025 0 NA
1-2938931-C-T p.Pro227Pro synonymous ACTRT2 5 80102 6.24204E-5 40051 0 6.41977E-5
1-2938931-C-A p.Pro227Pro synonymous ACTRT2 1 80102 1.24841E-5 40051 0 8.46683E-6
1-2938932-G-A p.Glu228Lys missense ACTRT2 5 80124 6.24033E-5 40062 0 7.61679E-5
1-2938933-A-C p.Glu228Ala missense ACTRT2 11 80136 1.37267E-4 40068 0 1.69331E-5
1-2938940-G-T p.Glu230Asp missense ACTRT2 3 80228 3.73934E-5 40114 0 5.61559E-5
1-2938941-C-T p.Leu231Phe missense ACTRT2 21 80216 2.61793E-4 40108 0 0.001875
1-2938948-G-A p.Arg233Gln missense ACTRT2 1 80262 1.24592E-5 40131 0 1.69658E-5
1-2938951-G-A p.Arg234Lys missense ACTRT2 1 80288 1.24552E-5 40144 0 NA
1-2938955-G-A p.Pro235Pro synonymous ACTRT2 4 80288 4.98206E-5 40144 0 6.25E-4
1-2938958-G-A p.Glu236Glu synonymous ACTRT2 1 80318 1.24505E-5 40159 0 NA
1-2938962-G-T p.Val238Phe missense ACTRT2 1 80312 1.24514E-5 40156 0 NA
1-2938970-G-A p.Arg240Arg synonymous ACTRT2 1 80296 1.24539E-5 40148 0 NA
1-2938972-A-G p.Glu241Gly missense ACTRT2 1 80260 1.24595E-5 40130 0 8.02002E-6
1-2938976-C-T p.Tyr242Tyr synonymous ACTRT2 2 80266 2.49171E-5 40133 0 1.44024E-4
1-2938988-C-T p.Asp246Asp synonymous ACTRT2 3 80210 3.74018E-5 40105 0 5.03525E-4
1-2938988-CG-AA p.AspGly246GluArg missense ACTRT2 1 80210 1.24673E-5 40105 0 NA
1-2938989-G-A p.Gly247Arg missense ACTRT2 15485 79970 0.193635 39985 1675 0.176289
1-2939001-A-G p.Ser251Gly missense ACTRT2 1 80200 1.24688E-5 40100 0 NA
1-2939006-C-T p.Leu252Leu synonymous ACTRT2 4 80126 4.99214E-5 40063 0 6.37714E-5
1-2939007-G-A p.Gly253Arg missense ACTRT2 3 80122 3.74429E-5 40061 0 4.02554E-5
1-2939012-C-T p.Asp254Asp synonymous ACTRT2 3 80060 3.74719E-5 40030 0 NA
1-2939014-C-T p.Pro255Leu missense ACTRT2 1 80038 1.24941E-5 40019 0 0.00100705
1-2939015-G-A p.Pro255Pro synonymous ACTRT2 3 80024 3.74888E-5 40012 0 3.41513E-5
1-2939026-C-T p.Ala259Val missense ACTRT2 2 79938 2.50194E-5 39969 0 8.57368E-6
1-2939027-G-A p.Ala259Ala synonymous ACTRT2 2 79916 2.50263E-5 39958 0 1.71512E-5
1-2939027-G-C p.Ala259Ala synonymous ACTRT2 1 79916 1.25131E-5 39958 0 NA
1-2939028-C-T p.Pro260Ser missense ACTRT2 1 79932 1.25106E-5 39966 0 NA
1-2939030-C-T p.Pro260Pro synonymous ACTRT2 1 79918 1.25128E-5 39959 0 1.21399E-5
1-2939031-G-A p.Glu261Lys missense ACTRT2 2 79866 2.50419E-5 39933 0 8.58222E-6
1-2939042-C-T p.Phe264Phe synonymous ACTRT2 1 80006 1.24991E-5 40003 0 5.14898E-5
1-2939043-G-A p.Val265Met missense ACTRT2 1 80026 1.24959E-5 40013 0 6.06286E-5
1-2939044-T-TG p.Pro266fs frameshift ACTRT2 1 80018 1.24972E-5 40009 0 NA
1-2939044-T-C p.Val265Ala missense ACTRT2 2 80020 2.49938E-5 40010 0 NA
1-2939052-C-T p.Gln268* stop_gained ACTRT2 1 80094 1.24853E-5 40047 0 8.57721E-6
1-2939069-C-A p.Ser273Arg missense ACTRT2 2 80216 2.49327E-5 40108 0 2.81962E-5
1-2939072-C-T p.Pro274Pro synonymous ACTRT2 3 80260 3.73785E-5 40130 0 5.03525E-4
1-2939073-G-A p.Gly275Arg missense ACTRT2 9 80282 1.12105E-4 40141 0 9.5706E-5
1-2939075-G-A p.Gly275Gly synonymous ACTRT2 1 80262 1.24592E-5 40131 0 NA
1-2939080-C-T p.Ser277Leu missense ACTRT2 1 80350 1.24456E-5 40175 0 8.04007E-6
1-2939081-G-A p.Ser277Ser synonymous ACTRT2 2 80372 2.48843E-5 40186 0 6.25E-4
1-2939085-A-G p.Met279Val missense ACTRT2 1 80454 1.24295E-5 40227 0 NA
1-2939106-A-G p.Lys286Glu missense ACTRT2 2 80508 2.48423E-5 40254 0 1.20067E-5
1-2939117-C-T p.Thr289Thr synonymous ACTRT2 140 80488 0.00173939 40244 1 0.00366452
1-2939118-G-A p.Asp290Asn missense ACTRT2 10 80490 1.24239E-4 40245 0 2.19832E-4
1-2939128-A-G p.Lys293Arg missense ACTRT2 2 80566 2.48244E-5 40283 0 NA
1-2939135-C-T p.Leu295Leu synonymous ACTRT2 4 80560 4.96524E-5 40280 0 9.5584E-5
1-2939138-T-C p.Phe296Phe synonymous ACTRT2 150 80536 0.00186252 40268 0 0.00356847
1-2939151-C-T p.Leu301Leu synonymous ACTRT2 2 80530 2.48355E-5 40265 0 3.99882E-6
1-2939155-C-T p.Ser302Leu missense ACTRT2 2 80538 2.4833E-5 40269 0 1.59378E-4
1-2939174-C-T p.Phe308Phe synonymous ACTRT2 1 80682 1.23943E-5 40341 0 7.55528E-5
1-2939177-C-T p.His309His synonymous ACTRT2 3 80670 3.71885E-5 40335 0 3.35717E-5
1-2939178-G-A p.Gly310Arg missense ACTRT2 1 80688 1.23934E-5 40344 0 3.19201E-5
1-2939188-A-G p.Asp313Gly missense ACTRT2 1 80736 1.2386E-5 40368 0 NA
1-2939190-C-T p.Arg314Trp missense ACTRT2 2 80756 2.4766E-5 40378 0 4.18578E-5
1-2939191-G-A p.Arg314Gln missense ACTRT2 8 80760 9.90589E-5 40380 0 6.69434E-5
1-2939218-C-A p.Ala323Asp missense ACTRT2 2 80864 2.47329E-5 40432 0 NA
1-2939223-A-T p.Lys325* stop_gained ACTRT2 1 80880 1.2364E-5 40440 0 NA
1-2939227-A-G p.Asp326Gly missense ACTRT2 3 80868 3.70975E-5 40434 0 3.98045E-6
1-2939231-C-G p.Thr327Thr synonymous ACTRT2 1 80896 1.23616E-5 40448 0 3.18857E-5
1-2939240-G-A p.Lys330Lys synonymous ACTRT2 1 80902 1.23606E-5 40451 0 3.98048E-6
1-2939241-A-G p.Ile331Val missense ACTRT2 1 80898 1.23612E-5 40449 0 NA
1-2939253-C-A p.Pro335Thr missense ACTRT2 1 80914 1.23588E-5 40457 0 3.98137E-6
1-2939255-C-T p.Pro335Pro synonymous ACTRT2 1 80888 1.23628E-5 40444 0 4.97372E-5
1-2939256-G-A p.Asp336Asn missense ACTRT2 2 80824 2.47451E-5 40412 0 4.14511E-5
1-2939259-C-T p.Arg337Trp missense ACTRT2 3 80842 3.71094E-5 40421 0 8.28102E-6
1-2939260-G-A p.Arg337Gln missense ACTRT2 6 80830 7.42299E-5 40415 0 0.0025
1-2939264-G-T p.Trp338Cys missense ACTRT2 2 80846 2.47384E-5 40423 0 3.98067E-6
1-2939267-C-T p.Phe339Phe synonymous ACTRT2 2 80868 2.47317E-5 40434 0 NA
1-2939275-GG-TT p.Trp342Phe missense ACTRT2 6 80866 7.41968E-5 40433 0 NA
1-2939288-C-T p.Ser346Ser synonymous ACTRT2 2 80944 2.47084E-5 40472 0 1.19352E-5
1-2939289-A-T p.Ile347Phe missense ACTRT2 1 80948 1.23536E-5 40474 0 3.97839E-6
1-2939289-A-G p.Ile347Val missense ACTRT2 1 80948 1.23536E-5 40474 0 NA
1-2939291-C-T p.Ile347Ile synonymous ACTRT2 1 80944 1.23542E-5 40472 0 NA
1-2939292-G-A p.Val348Ile missense ACTRT2 5 80930 6.17818E-5 40465 0 3.18918E-5
1-2939330-C-T p.Thr360Thr synonymous ACTRT2 1 81020 1.23426E-5 40510 0 NA
1-2939331-G-A p.Ala361Thr missense ACTRT2 39 81018 4.81375E-4 40509 1 3.50408E-4
1-2939333-C-T p.Ala361Ala synonymous ACTRT2 6 81026 7.40503E-5 40513 0 3.18573E-5
1-2939334-G-A p.Ala362Thr missense ACTRT2 2 81028 2.46828E-5 40514 0 3.18695E-5
1-2939338-A-T p.Asp363Val missense ACTRT2 4 81036 4.93608E-5 40518 0 3.18735E-5
1-2939360-C-T p.Ser370Ser synonymous ACTRT2 9 81044 1.11051E-4 40522 0 1.59347E-4
1-2939361-G-T p.Val371Leu missense ACTRT2 2 81036 2.46804E-5 40518 0 8.37353E-6
1-2939374-G-A p.Arg375Lys missense ACTRT2 2 81042 2.46786E-5 40521 0 NA
1-2939463-C-T c.*79C>T splice_region ACTRT2 2 80106 2.49669E-5 40053 0 3.18634E-5
1-2939464-G-A c.*80G>A splice_region ACTRT2 23 80088 2.87184E-4 40044 0 4.45917E-4