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 76600 1.30548E-5 38300 0 NA
1-2938122-C-T c.-129C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 2 77274 2.58819E-5 38637 0 NA
1-2938149-C-T c.-102C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 1 80002 1.24997E-5 40001 0 NA
1-2938181-A-G c.-70A>G 5_prime_UTR_premature_start_codon_gain ACTRT2 1 81764 1.22303E-5 40882 0 NA
1-2938200-C-T c.-51C>T 5_prime_UTR_premature_start_codon_gain ACTRT2 1 82454 1.2128E-5 41227 0 3.18857E-5
1-2938252-T-C p.Met1? start_lost ACTRT2 2 83116 2.40628E-5 41558 0 3.18857E-5
1-2938262-G-T p.Pro4Pro synonymous ACTRT2 11 83116 1.32345E-4 41558 0 NA
1-2938262-G-A p.Pro4Pro synonymous ACTRT2 5 83116 6.01569E-5 41558 0 5.03525E-4
1-2938265-C-T p.His5His synonymous ACTRT2 13368 82542 0.161954 41271 1133 0.196088
1-2938266-G-A p.Ala6Thr missense ACTRT2 10 83122 1.20305E-4 41561 0 2.60229E-4
1-2938270-T-C p.Leu7Ser missense ACTRT2 2 83130 2.40587E-5 41565 0 3.99281E-6
1-2938279-C-T p.Pro10Leu missense ACTRT2 1 83126 1.20299E-5 41563 0 8.335E-6
1-2938279-C-G p.Pro10Arg missense ACTRT2 8 83126 9.62394E-5 41563 0 8.335E-6
1-2938280-G-A p.Pro10Pro synonymous ACTRT2 1 83122 1.20305E-5 41561 0 8.32834E-6
1-2938283-T-C p.Ala11Ala synonymous ACTRT2 1 83126 1.20299E-5 41563 0 8.31781E-6
1-2938293-G-T p.Asp15Tyr missense ACTRT2 4 83114 4.81267E-5 41557 0 9.13727E-5
1-2938304-G-C p.Ser18Ser synonymous ACTRT2 2 83062 2.40784E-5 41531 0 6.66778E-5
1-2938311-T-C p.Cys21Arg missense ACTRT2 2 83050 2.40819E-5 41525 0 3.99026E-6
1-2938314-A-G p.Lys22Glu missense ACTRT2 1 83032 1.20435E-5 41516 0 NA
1-2938316-A-G p.Lys22Lys synonymous ACTRT2 1 83040 1.20424E-5 41520 0 8.30317E-6
1-2938318-C-T p.Ala23Val missense ACTRT2 5 83014 6.02308E-5 41507 0 2.54956E-4
1-2938319-G-A p.Ala23Ala synonymous ACTRT2 34 83022 4.0953E-4 41511 0 4.14541E-4
1-2938335-T-G p.Phe29Val missense ACTRT2 1 82952 1.20552E-5 41476 0 1.19607E-5
1-2938343-C-G p.Pro31Pro synonymous ACTRT2 1 82884 1.20651E-5 41442 0 NA
1-2938344-C-G p.Arg32Gly missense ACTRT2 1 82868 1.20674E-5 41434 0 NA
1-2938345-G-T p.Arg32Leu missense ACTRT2 1 82838 1.20718E-5 41419 0 3.18796E-5
1-2938351-T-C p.Met34Thr missense ACTRT2 1 82840 1.20715E-5 41420 0 3.98486E-6
1-2938354-T-A p.Val35Asp missense ACTRT2 2 82812 2.41511E-5 41406 0 3.18898E-5
1-2938365-G-A p.Val39Met missense ACTRT2 1 82620 1.21036E-5 41310 0 9.56572E-5
1-2938386-G-A p.Ala46Thr missense ACTRT2 1 82466 1.21262E-5 41233 0 NA
1-2938395-G-A p.Ala49Thr missense ACTRT2 135 82456 0.00163724 41228 1 0.00363321
1-2938407-CAGA-C p.Lys55del conservative_inframe_deletion ACTRT2 11564 82336 0.140449 41168 934 0.162536
1-2938416-T-C p.Tyr56His missense ACTRT2 224 82554 0.00271338 41277 0 0.00261747
1-2938419-T-G p.Phe57Val missense ACTRT2 3 82580 3.63284E-5 41290 0 3.98156E-6
1-2938420-T-C p.Phe57Ser missense ACTRT2 2 82570 2.42219E-5 41285 0 2.48053E-5
1-2938420-T-A p.Phe57Tyr missense ACTRT2 1 82570 1.21109E-5 41285 0 6.76843E-5
1-2938422-G-A p.Val58Met missense ACTRT2 8 82582 9.68734E-5 41291 0 6.25E-4
1-2938422-G-T p.Val58Leu missense ACTRT2 1 82582 1.21092E-5 41291 0 3.58306E-5
1-2938424-G-T p.Val58Val synonymous ACTRT2 28 82594 3.39008E-4 41297 0 6.05945E-4
1-2938424-G-C p.Val58Val synonymous ACTRT2 1 82594 1.21074E-5 41297 0 3.18918E-5
1-2938427-G-A p.Gly59Gly synonymous ACTRT2 2 82598 2.42137E-5 41299 0 6.37674E-5
1-2938428-G-A p.Glu60Lys missense ACTRT2 11 82582 1.33201E-4 41291 2 0.00151057
1-2938430-G-C p.Glu60Asp missense ACTRT2 1 82586 1.21086E-5 41293 0 NA
1-2938446-C-T p.Gln66* stop_gained ACTRT2 1 82808 1.20761E-5 41404 0 NA
1-2938462-T-G p.Leu71Arg missense ACTRT2 1 82968 1.20528E-5 41484 0 NA
1-2938463-G-A p.Leu71Leu synonymous ACTRT2 5 82972 6.02613E-5 41486 0 6.37389E-5
1-2938466-C-T p.His72His synonymous ACTRT2 1 82994 1.20491E-5 41497 0 3.97981E-6
1-2938471-C-T p.Pro74Leu missense ACTRT2 1 83010 1.20467E-5 41505 0 7.959E-6
1-2938473-T-C p.Phe75Leu missense ACTRT2 1 83028 1.20441E-5 41514 0 NA
1-2938475-C-T p.Phe75Phe synonymous ACTRT2 3 83020 3.61359E-5 41510 0 5.7793E-5
1-2938476-G-A p.Glu76Lys missense ACTRT2 1 83014 1.20462E-5 41507 0 3.5816E-5
1-2938476-G-T p.Glu76* stop_gained ACTRT2 1 83014 1.20462E-5 41507 0 2.38774E-5
1-2938480-G-A p.Arg77His missense ACTRT2 2 83036 2.40859E-5 41518 0 1.56849E-4
1-2938484-C-A p.Gly78Gly synonymous ACTRT2 1 83060 1.20395E-5 41530 0 NA
1-2938493-A-G p.Thr81Thr synonymous ACTRT2 2 83078 2.40738E-5 41539 0 3.18898E-5
1-2938497-T-C p.Trp83Arg missense ACTRT2 8 83072 9.6302E-5 41536 0 4.95426E-5
1-2938498-G-A p.Trp83* stop_gained ACTRT2 1 83076 1.20372E-5 41538 0 NA
1-2938499-G-A p.Trp83* stop_gained ACTRT2 1 83066 1.20386E-5 41533 0 NA
1-2938505-C-T p.Asp85Asp synonymous ACTRT2 1 83088 1.20354E-5 41544 0 1.65131E-5
1-2938505-C-G p.Asp85Glu missense ACTRT2 1 83088 1.20354E-5 41544 0 3.18857E-5
1-2938506-G-A p.Val86Met missense ACTRT2 134 83080 0.0016129 41540 1 0.00356802
1-2938507-T-C p.Val86Ala missense ACTRT2 4 83086 4.81429E-5 41543 0 1.23842E-4
1-2938509-G-A p.Glu87Lys missense ACTRT2 1 83090 1.20351E-5 41545 0 NA
1-2938536-T-A p.Trp96Arg missense ACTRT2 1 83068 1.20383E-5 41534 0 NA
1-2938546-G-C p.Gly99Ala missense ACTRT2 1 83032 1.20435E-5 41516 0 NA
1-2938547-C-T p.Gly99Gly synonymous ACTRT2 1 83020 1.20453E-5 41510 0 3.30355E-5
1-2938547-C-A p.Gly99Gly synonymous ACTRT2 1 83020 1.20453E-5 41510 0 3.98076E-6
1-2938550-G-A p.Val100Val synonymous ACTRT2 2 83040 2.40848E-5 41520 0 NA
1-2938560-G-A p.Asp104Asn missense ACTRT2 4 83012 4.81858E-5 41506 0 3.30409E-5
1-2938561-A-G p.Asp104Gly missense ACTRT2 2 83008 2.40941E-5 41504 0 NA
1-2938569-C-T p.Leu107Leu synonymous ACTRT2 2369 82970 0.0285525 41485 63 0.0589124
1-2938579-C-T p.Thr110Met missense ACTRT2 2 83018 2.40912E-5 41509 0 3.18634E-5
1-2938580-G-A p.Thr110Thr synonymous ACTRT2 138 82982 0.00166301 41491 2 0.00366382
1-2938597-C-T p.Pro116Leu missense ACTRT2 1 82944 1.20563E-5 41472 0 5.78417E-5
1-2938605-A-G p.Asn119Asp missense ACTRT2 1 82936 1.20575E-5 41468 0 8.26487E-6
1-2938608-C-T p.Arg120Cys missense ACTRT2 1 82938 1.20572E-5 41469 0 3.58263E-5
1-2938609-G-A p.Arg120His missense ACTRT2 7 82942 8.43963E-5 41471 0 1.27429E-4
1-2938609-G-T p.Arg120Leu missense ACTRT2 1 82942 1.20566E-5 41471 0 3.98111E-6
1-2938610-T-G p.Arg120Arg synonymous ACTRT2 1 82944 1.20563E-5 41472 0 3.98076E-6
1-2938611-G-A p.Glu121Lys missense ACTRT2 2 82956 2.41092E-5 41478 0 3.98057E-6
1-2938617-A-T p.Met123Leu missense ACTRT2 1 82946 1.2056E-5 41473 0 NA
1-2938618-T-C p.Met123Thr missense ACTRT2 1 82918 1.20601E-5 41459 0 3.98115E-6
1-2938619-G-A p.Met123Ile missense ACTRT2 1 82908 1.20616E-5 41454 0 NA
1-2938631-G-A p.Met127Ile missense ACTRT2 2 82906 2.41237E-5 41453 0 6.25E-4
1-2938634-C-T p.Phe128Phe synonymous ACTRT2 3 82900 3.61882E-5 41450 0 5.03525E-4
1-2938641-T-A p.Phe131Ile missense ACTRT2 5 82896 6.03165E-5 41448 0 0.00100705
1-2938643-C-T p.Phe131Phe synonymous ACTRT2 2 82858 2.41377E-5 41429 0 2.78829E-5
1-2938646-C-T p.Gly132Gly synonymous ACTRT2 4 82812 4.83022E-5 41406 0 1.24129E-4
1-2938647-G-A p.Val133Met missense ACTRT2 4 82834 4.82893E-5 41417 0 5.03525E-4
1-2938653-G-A p.Ala135Thr missense ACTRT2 2 82802 2.4154E-5 41401 0 1.59364E-5
1-2938654-C-T p.Ala135Val missense ACTRT2 1 82838 1.20718E-5 41419 0 3.18552E-5
1-2938662-C-T p.Leu138Leu synonymous ACTRT2 1 82834 1.20723E-5 41417 0 NA
1-2938666-C-T p.Ser139Leu missense ACTRT2 9 82810 1.08683E-4 41405 1 7.45687E-5
1-2938666-C-A p.Ser139* stop_gained ACTRT2 2 82810 2.41517E-5 41405 0 NA
1-2938667-G-A p.Ser139Ser synonymous ACTRT2 4 82796 4.83115E-5 41398 0 4.97059E-5
1-2938686-C-T p.Leu146Phe missense ACTRT2 1 82778 1.20805E-5 41389 0 1.65791E-5
1-2938689-T-A p.Tyr147Asn missense ACTRT2 1 82752 1.20843E-5 41376 0 2.79025E-5
1-2938691-C-T p.Tyr147Tyr synonymous ACTRT2 7 82704 8.46392E-5 41352 0 3.18926E-5
1-2938692-G-A p.Ala148Thr missense ACTRT2 1 82652 1.20989E-5 41326 0 2.48715E-5
1-2938697-T-G p.Ser149Ser synonymous ACTRT2 13728 82260 0.166885 41130 1270 0.196732
1-2938697-T-A p.Ser149Ser synonymous ACTRT2 18 82688 2.17686E-4 41344 0 0.00107776
1-2938707-A-G p.Thr153Ala missense ACTRT2 1 82694 1.20928E-5 41347 0 3.98616E-6
1-2938708-C-T p.Thr153Met missense ACTRT2 3 82690 3.62801E-5 41345 0 3.18634E-5
1-2938709-G-A p.Thr153Thr synonymous ACTRT2 1 82680 1.20948E-5 41340 0 3.18552E-5
1-2938713-C-T p.Leu155Leu synonymous ACTRT2 1 82652 1.20989E-5 41326 0 NA
1-2938715-G-C p.Leu155Leu synonymous ACTRT2 1 82652 1.20989E-5 41326 0 3.18552E-5
1-2938716-G-A p.Val156Met missense ACTRT2 3 82614 3.63135E-5 41307 0 3.9861E-6
1-2938727-C-T p.Ser159Ser synonymous ACTRT2 13 82562 1.57457E-4 41281 0 1.27478E-4
1-2938730-G-A p.Gly160Gly synonymous ACTRT2 1 82554 1.21133E-5 41277 0 3.18512E-5
1-2938736-G-A p.Ala162Ala synonymous ACTRT2 3 82490 3.6368E-5 41245 0 0.00100705
1-2938741-C-A p.Thr164Asn missense ACTRT2 1 82456 1.21277E-5 41228 0 NA
1-2938743-T-A p.Cys165Ser missense ACTRT2 2 82478 2.42489E-5 41239 0 9.55901E-5
1-2938747-C-T p.Thr166Ile missense ACTRT2 1 82464 1.21265E-5 41232 0 NA
1-2938748-T-C p.Thr166Thr synonymous ACTRT2 5 82460 6.06355E-5 41230 0 4.156E-5
1-2938772-C-A p.Ser174Ser synonymous ACTRT2 1 82248 1.21584E-5 41124 0 NA
1-2938781-C-T p.His177His synonymous ACTRT2 23 82218 2.79744E-4 41109 0 1.39819E-4
1-2938782-G-A p.Ala178Thr missense ACTRT2 1 82170 1.21699E-5 41085 0 3.18817E-5
1-2938784-A-C p.Ala178Ala synonymous ACTRT2 1 82228 1.21613E-5 41114 0 NA
1-2938793-G-A p.Lys181Lys synonymous ACTRT2 5 82276 6.07711E-5 41138 0 3.18857E-5
1-2938799-C-T p.His183His synonymous ACTRT2 3 82226 3.64848E-5 41113 0 7.52345E-5
1-2938800-G-A p.Val184Met missense ACTRT2 8 82230 9.72881E-5 41115 0 2.87045E-4
1-2938805-G-A p.Ala185Ala synonymous ACTRT2 13 82134 1.58278E-4 41067 0 1.91351E-4
1-2938812-G-A p.Asp188Asn missense ACTRT2 4 82110 4.87151E-5 41055 0 3.18857E-5
1-2938814-C-T p.Asp188Asp synonymous ACTRT2 1 82100 1.21803E-5 41050 0 0.00125
1-2938819-C-T p.Thr190Met missense ACTRT2 2 82074 2.43683E-5 41037 0 8.38082E-6
1-2938820-G-A p.Thr190Thr synonymous ACTRT2 3 82050 3.65631E-5 41025 0 4.80377E-5
1-2938838-G-A p.Leu196Leu synonymous ACTRT2 1 81944 1.22035E-5 40972 0 4.0102E-6
1-2938841-C-T p.Leu197Leu synonymous ACTRT2 1 81990 1.21966E-5 40995 0 8.41567E-6
1-2938844-G-C p.Leu198Leu synonymous ACTRT2 2 81972 2.43986E-5 40986 0 3.18735E-5
1-2938846-C-G p.Ala199Gly missense ACTRT2 2 81934 2.44099E-5 40967 0 3.18796E-5
1-2938850-C-T p.Ser200Ser synonymous ACTRT2 9 81858 1.09946E-4 40929 0 9.6319E-5
1-2938855-A-T p.His202Leu missense ACTRT2 1 81866 1.22151E-5 40933 0 8.43626E-6
1-2938871-G-A p.Gln207Gln synonymous ACTRT2 2 81782 2.44553E-5 40891 0 NA
1-2938880-G-A p.Lys210Lys synonymous ACTRT2 1 81832 1.22202E-5 40916 0 8.01E-6
1-2938886-C-T p.Leu212Leu synonymous ACTRT2 6 81756 7.33891E-5 40878 0 6.25E-4
1-2938886-C-A p.Leu212Leu synonymous ACTRT2 14 81754 1.71245E-4 40877 0 3.18654E-4
1-2938887-G-A p.Val213Met missense ACTRT2 597 81720 0.00730543 40860 12 0.0144678
1-2938887-G-T p.Val213Leu missense ACTRT2 3 81730 3.67062E-5 40865 0 1.60206E-5
1-2938892-C-T p.Asp214Asp synonymous ACTRT2 1 81768 1.22297E-5 40884 0 8.44338E-6
1-2938893-G-A p.Asp215Asn missense ACTRT2 3 81758 3.66937E-5 40879 0 3.18796E-5
1-2938916-C-T p.Tyr222Tyr synonymous ACTRT2 2 81890 2.4423E-5 40945 0 3.38009E-5
1-2938917-G-A p.Val223Met missense ACTRT2 1 81934 1.22049E-5 40967 0 4.0067E-6
1-2938924-T-G p.Leu225Trp missense ACTRT2 1864 81992 0.0227339 40996 28 0.0523666
1-2938929-C-A p.Pro227Thr missense ACTRT2 1 82020 1.21921E-5 41010 0 NA
1-2938931-C-T p.Pro227Pro synonymous ACTRT2 6 82082 7.30976E-5 41041 0 6.41977E-5
1-2938931-C-A p.Pro227Pro synonymous ACTRT2 1 82082 1.21829E-5 41041 0 8.46683E-6
1-2938932-G-A p.Glu228Lys missense ACTRT2 5 82110 6.08939E-5 41055 0 7.61679E-5
1-2938933-A-C p.Glu228Ala missense ACTRT2 11 82130 1.33934E-4 41065 0 1.69331E-5
1-2938940-G-T p.Glu230Asp missense ACTRT2 5 82236 6.08006E-5 41118 0 5.61559E-5
1-2938941-C-T p.Leu231Phe missense ACTRT2 21 82218 2.55419E-4 41109 0 0.001875
1-2938948-G-A p.Arg233Gln missense ACTRT2 1 82280 1.21536E-5 41140 0 1.69658E-5
1-2938951-G-A p.Arg234Lys missense ACTRT2 1 82304 1.21501E-5 41152 0 NA
1-2938955-G-A p.Pro235Pro synonymous ACTRT2 4 82300 4.86027E-5 41150 0 6.25E-4
1-2938958-G-A p.Glu236Glu synonymous ACTRT2 1 82326 1.21468E-5 41163 0 NA
1-2938962-G-T p.Val238Phe missense ACTRT2 1 82340 1.21448E-5 41170 0 NA
1-2938970-G-A p.Arg240Arg synonymous ACTRT2 1 82326 1.21468E-5 41163 0 NA
1-2938972-A-G p.Glu241Gly missense ACTRT2 1 82282 1.21533E-5 41141 0 8.02002E-6
1-2938973-G-A p.Glu241Glu synonymous ACTRT2 1 82290 1.21521E-5 41145 0 NA
1-2938976-C-T p.Tyr242Tyr synonymous ACTRT2 2 82290 2.43043E-5 41145 0 1.44024E-4
1-2938988-C-T p.Asp246Asp synonymous ACTRT2 3 82222 3.64866E-5 41111 0 5.03525E-4
1-2938988-CG-AA p.AspGly246GluArg missense ACTRT2 1 82222 1.21622E-5 41111 0 NA
1-2938989-G-A p.Gly247Arg missense ACTRT2 15781 81972 0.192517 40986 1708 0.176289
1-2939001-A-G p.Ser251Gly missense ACTRT2 1 82196 1.2166E-5 41098 0 NA
1-2939006-C-T p.Leu252Leu synonymous ACTRT2 4 82112 4.8714E-5 41056 0 6.37714E-5
1-2939007-G-A p.Gly253Arg missense ACTRT2 3 82112 3.65355E-5 41056 0 4.02554E-5
1-2939012-C-T p.Asp254Asp synonymous ACTRT2 3 82030 3.6572E-5 41015 0 NA
1-2939014-C-T p.Pro255Leu missense ACTRT2 1 82014 1.2193E-5 41007 0 0.00100705
1-2939015-G-A p.Pro255Pro synonymous ACTRT2 3 81996 3.65871E-5 40998 0 3.41513E-5
1-2939026-C-T p.Ala259Val missense ACTRT2 2 81910 2.4417E-5 40955 0 8.57368E-6
1-2939027-G-A p.Ala259Ala synonymous ACTRT2 1 81896 1.22106E-5 40948 0 1.71512E-5
1-2939027-G-C p.Ala259Ala synonymous ACTRT2 1 81896 1.22106E-5 40948 0 NA
1-2939028-C-T p.Pro260Ser missense ACTRT2 1 81916 1.22076E-5 40958 0 NA
1-2939030-C-T p.Pro260Pro synonymous ACTRT2 1 81900 1.221E-5 40950 0 1.21399E-5
1-2939031-G-A p.Glu261Lys missense ACTRT2 2 81852 2.44343E-5 40926 0 8.58222E-6
1-2939042-C-T p.Phe264Phe synonymous ACTRT2 1 81986 1.21972E-5 40993 0 5.14898E-5
1-2939043-G-A p.Val265Met missense ACTRT2 1 81996 1.21957E-5 40998 0 6.06286E-5
1-2939044-T-TG p.Pro266fs frameshift ACTRT2 1 81992 1.21963E-5 40996 0 NA
1-2939044-T-C p.Val265Ala missense ACTRT2 2 81994 2.4392E-5 40997 0 NA
1-2939052-C-T p.Gln268* stop_gained ACTRT2 1 82068 1.2185E-5 41034 0 8.57721E-6
1-2939069-C-A p.Ser273Arg missense ACTRT2 2 82228 2.43226E-5 41114 0 2.81962E-5
1-2939072-C-T p.Pro274Pro synonymous ACTRT2 3 82288 3.64573E-5 41144 0 5.03525E-4
1-2939073-G-A p.Gly275Arg missense ACTRT2 9 82306 1.09348E-4 41153 0 9.5706E-5
1-2939075-G-A p.Gly275Gly synonymous ACTRT2 1 82286 1.21527E-5 41143 0 NA
1-2939080-C-T p.Ser277Leu missense ACTRT2 1 82382 1.21386E-5 41191 0 8.04007E-6
1-2939081-G-A p.Ser277Ser synonymous ACTRT2 2 82408 2.42695E-5 41204 0 6.25E-4
1-2939085-A-G p.Met279Val missense ACTRT2 1 82508 1.212E-5 41254 0 NA
1-2939106-A-G p.Lys286Glu missense ACTRT2 2 82566 2.4223E-5 41283 0 1.20067E-5
1-2939117-C-T p.Thr289Thr synonymous ACTRT2 139 82552 0.00168379 41276 1 0.00366452
1-2939118-G-A p.Asp290Asn missense ACTRT2 12 82556 1.45356E-4 41278 0 2.19832E-4
1-2939128-A-G p.Lys293Arg missense ACTRT2 2 82662 2.41949E-5 41331 0 NA
1-2939135-C-T p.Leu295Leu synonymous ACTRT2 4 82650 4.83969E-5 41325 0 9.5584E-5
1-2939138-T-C p.Phe296Phe synonymous ACTRT2 150 82616 0.00181563 41308 0 0.00356847
1-2939151-C-T p.Leu301Leu synonymous ACTRT2 2 82608 2.42107E-5 41304 0 3.99882E-6
1-2939155-C-T p.Ser302Leu missense ACTRT2 2 82624 2.4206E-5 41312 0 1.59378E-4
1-2939174-C-T p.Phe308Phe synonymous ACTRT2 1 82782 1.20799E-5 41391 0 7.55528E-5
1-2939177-C-T p.His309His synonymous ACTRT2 3 82774 3.62433E-5 41387 0 3.35717E-5
1-2939178-G-A p.Gly310Arg missense ACTRT2 3 82800 3.62319E-5 41400 0 3.19201E-5
1-2939188-A-G p.Asp313Gly missense ACTRT2 1 82860 1.20685E-5 41430 0 NA
1-2939190-C-T p.Arg314Trp missense ACTRT2 2 82884 2.41301E-5 41442 0 4.18578E-5
1-2939191-G-A p.Arg314Gln missense ACTRT2 8 82892 9.65111E-5 41446 0 6.69434E-5
1-2939218-C-A p.Ala323Asp missense ACTRT2 2 83018 2.40912E-5 41509 0 NA
1-2939221-C-T p.Ser324Phe missense ACTRT2 1 83050 1.20409E-5 41525 0 3.18918E-5
1-2939223-A-T p.Lys325* stop_gained ACTRT2 1 83048 1.20412E-5 41524 0 NA
1-2939227-A-G p.Asp326Gly missense ACTRT2 3 83034 3.61298E-5 41517 0 3.98045E-6
1-2939231-C-G p.Thr327Thr synonymous ACTRT2 1 83064 1.20389E-5 41532 0 3.18857E-5
1-2939240-G-A p.Lys330Lys synonymous ACTRT2 1 83080 1.20366E-5 41540 0 3.98048E-6
1-2939241-A-G p.Ile331Val missense ACTRT2 1 83074 1.20375E-5 41537 0 NA
1-2939253-C-A p.Pro335Thr missense ACTRT2 1 83100 1.20337E-5 41550 0 3.98137E-6
1-2939255-C-T p.Pro335Pro synonymous ACTRT2 1 83078 1.20369E-5 41539 0 4.97372E-5
1-2939256-G-A p.Asp336Asn missense ACTRT2 2 83010 2.40935E-5 41505 0 4.14511E-5
1-2939259-C-T p.Arg337Trp missense ACTRT2 3 83030 3.61315E-5 41515 0 8.28102E-6
1-2939260-G-A p.Arg337Gln missense ACTRT2 9 83018 1.0841E-4 41509 0 0.0025
1-2939264-G-T p.Trp338Cys missense ACTRT2 2 83034 2.40865E-5 41517 0 3.98067E-6
1-2939267-C-T p.Phe339Phe synonymous ACTRT2 2 83054 2.40807E-5 41527 0 NA
1-2939275-GG-TT p.Trp342Phe missense ACTRT2 6 83060 7.22369E-5 41530 0 NA
1-2939288-C-T p.Ser346Ser synonymous ACTRT2 2 83136 2.4057E-5 41568 0 1.19352E-5
1-2939289-A-T p.Ile347Phe missense ACTRT2 1 83142 1.20276E-5 41571 0 3.97839E-6
1-2939289-A-G p.Ile347Val missense ACTRT2 1 83142 1.20276E-5 41571 0 NA
1-2939291-C-T p.Ile347Ile synonymous ACTRT2 1 83134 1.20288E-5 41567 0 NA
1-2939292-G-A p.Val348Ile missense ACTRT2 5 83118 6.01554E-5 41559 0 3.18918E-5
1-2939330-C-T p.Thr360Thr synonymous ACTRT2 1 83224 1.20158E-5 41612 0 NA
1-2939331-G-A p.Ala361Thr missense ACTRT2 41 83224 4.92646E-4 41612 1 3.50408E-4
1-2939333-C-T p.Ala361Ala synonymous ACTRT2 6 83234 7.20859E-5 41617 0 3.18573E-5
1-2939334-G-A p.Ala362Thr missense ACTRT2 2 83234 2.40286E-5 41617 0 3.18695E-5
1-2939338-A-T p.Asp363Val missense ACTRT2 4 83250 4.8048E-5 41625 0 3.18735E-5
1-2939360-C-T p.Ser370Ser synonymous ACTRT2 8 83268 9.60753E-5 41634 0 1.59347E-4
1-2939361-G-T p.Val371Leu missense ACTRT2 2 83258 2.40217E-5 41629 0 8.37353E-6
1-2939374-G-A p.Arg375Lys missense ACTRT2 2 83264 2.402E-5 41632 0 NA
1-2939463-C-T c.*79C>T splice_region ACTRT2 2 81994 2.4392E-5 40997 0 3.18634E-5
1-2939464-G-A c.*80G>A splice_region ACTRT2 24 81950 2.92862E-4 40975 0 4.45917E-4