Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-18081894-C-T c.-130C>T 5_prime_UTR_premature_start_codon_gain ACTL8 1 8 0.125 4 0 NA
1-18149475-C-T c.-24-5C>T splice_region ACTL8 1 81312 1.22983E-5 40656 0 1.27413E-4
1-18149476-G-A c.-24-4G>A splice_region ACTL8 2353 81076 0.0290222 40538 21 0.0366287
1-18149478-A-T c.-24-2A>T splice_acceptor ACTL8 1 81490 1.22714E-5 40745 0 1.15816E-5
1-18149480-G-A c.-24G>A splice_region ACTL8 1 81540 1.22639E-5 40770 0 NA
1-18149500-C-T c.-4C>T 5_prime_UTR_premature_start_codon_gain ACTL8 3 82360 3.64254E-5 41180 0 4.82847E-5
1-18149510-G-T p.Ala3Ser missense ACTL8 25601 77210 0.331576 38605 3729 0.392078
1-18149510-G-A p.Ala3Thr missense ACTL8 1 82696 1.20925E-5 41348 0 3.19122E-5
1-18149516-A-G p.Thr5Ala missense ACTL8 1 82812 1.20755E-5 41406 0 NA
1-18149518-C-T p.Thr5Thr synonymous ACTL8 4 82854 4.82777E-5 41427 0 6.36983E-5
1-18149519-G-A p.Val6Ile missense ACTL8 2 82884 2.41301E-5 41442 0 1.19625E-5
1-18149530-C-T p.Asp9Asp synonymous ACTL8 1 83044 1.20418E-5 41522 0 3.98235E-6
1-18149533-C-T p.His10His synonymous ACTL8 3 83060 3.61185E-5 41530 0 3.31241E-5
1-18149558-A-G p.Thr19Ala missense ACTL8 3 83186 3.60638E-5 41593 0 0.00100705
1-18149559-C-T p.Thr19Met missense ACTL8 2 83190 2.40414E-5 41595 0 3.18289E-5
1-18149560-G-A p.Thr19Thr synonymous ACTL8 1 83192 1.20204E-5 41596 0 1.19352E-5
1-18149563-C-T p.Ala20Ala synonymous ACTL8 14 83222 1.68225E-4 41611 0 3.62887E-4
1-18149564-G-A p.Gly21Ser missense ACTL8 1 83238 1.20137E-5 41619 0 6.36943E-5
1-18149564-GGC-AGA p.Gly21Arg missense ACTL8 1 83238 1.20137E-5 41619 0 NA
1-18149566-C-A p.Gly21Gly synonymous ACTL8 36919 82382 0.448144 41191 8556 0.509719
1-18149570-A-G p.Asn23Asp missense ACTL8 1 83272 1.20088E-5 41636 0 8.24076E-6
1-18149585-G-A p.Val28Ile missense ACTL8 2 83292 2.40119E-5 41646 0 3.97722E-6
1-18149591-C-A p.Pro30Thr missense ACTL8 1 83296 1.20054E-5 41648 0 NA
1-18149592-C-A p.Pro30Gln missense ACTL8 1 83304 1.20042E-5 41652 0 3.18613E-5
1-18149593-G-A p.Pro30Pro synonymous ACTL8 140 83298 0.00168071 41649 2 0.00550827
1-18149599-C-T p.Ile32Ile synonymous ACTL8 3 83314 3.60084E-5 41657 0 4.94364E-5
1-18149604-A-G p.Asn34Ser missense ACTL8 1 83314 1.20028E-5 41657 0 3.97674E-6
1-18149613-C-A p.Pro37Gln missense ACTL8 137 83318 0.0016443 41659 0 0.0021339
1-18149613-C-T p.Pro37Leu missense ACTL8 1 83322 1.20016E-5 41661 0 3.97659E-6
1-18149614-G-A p.Pro37Pro synonymous ACTL8 2 83324 2.40027E-5 41662 0 0.00151057
1-18149642-G-A p.Ala47Thr missense ACTL8 1 83334 1.19999E-5 41667 0 1.19294E-5
1-18149645-C-T p.Arg48Cys missense ACTL8 25 83328 3.00019E-4 41664 0 6.59141E-4
1-18149646-G-A p.Arg48His missense ACTL8 10 83332 1.20002E-4 41666 0 1.59058E-4
1-18149651-C-T p.Arg50Cys missense ACTL8 1 83330 1.20005E-5 41665 0 1.59057E-5
1-18149652-G-A p.Arg50His missense ACTL8 2 83338 2.39987E-5 41669 1 3.18492E-5
1-18149656-G-A p.Val51Val synonymous ACTL8 2 83334 2.39998E-5 41667 0 NA
1-18149666-A-G p.Ile55Val missense ACTL8 213 83318 0.00255647 41659 1 0.00307383
1-18149668-C-T p.Ile55Ile synonymous ACTL8 2 83322 2.40033E-5 41661 0 8.23886E-6
1-18149679-A-G p.His59Arg missense ACTL8 1 83318 1.20022E-5 41659 0 3.97643E-6
1-18149686-C-A p.Asp61Glu missense ACTL8 3 83306 3.60118E-5 41653 0 3.97643E-6
1-18149704-C-T p.Ile67Ile synonymous ACTL8 8 83298 9.60407E-5 41649 0 6.59217E-5
1-18149705-G-A p.Glu68Lys missense ACTL8 1 83296 1.20054E-5 41648 0 1.59062E-5
1-18149708-C-T p.Arg69Trp missense ACTL8 1 83290 1.20062E-5 41645 0 1.98836E-5
1-18149710-G-T p.Arg69Arg synonymous ACTL8 6 83282 7.20444E-5 41641 0 2.47211E-5
1-18149715-G-A p.Arg71His missense ACTL8 3 83286 3.60205E-5 41643 0 1.6481E-5
1-18149720-C-G p.Leu73Val missense ACTL8 26 83290 3.12162E-4 41645 0 1.70989E-4
1-18149724-A-G p.Asn74Ser missense ACTL8 3 83284 3.60213E-5 41642 0 3.18552E-5
1-18149731-G-A p.Glu76Glu synonymous ACTL8 2 83284 2.40142E-5 41642 0 3.97659E-6
1-18149731-G-C p.Glu76Asp missense ACTL8 2 83284 2.40142E-5 41642 0 3.97659E-6
1-18149751-C-T p.Ser83Leu missense ACTL8 2 83284 2.40142E-5 41642 0 NA
1-18149758-G-A p.Val85Val synonymous ACTL8 1 83292 1.2006E-5 41646 0 3.18634E-5
1-18149761-G-A p.Leu86Leu synonymous ACTL8 1 83300 1.20048E-5 41650 0 NA
1-18149774-C-T p.Arg91Trp missense ACTL8 6 83270 7.20548E-5 41635 1 5.03525E-4
1-18149783-G-A p.Glu94Lys missense ACTL8 1 83242 1.20132E-5 41621 0 NA
1-18149787-T-C p.Val95Ala missense ACTL8 1 83222 1.20161E-5 41611 0 7.95634E-6
1-18149788-C-T p.Val95Val synonymous ACTL8 2 83236 2.40281E-5 41618 0 3.18796E-5
1-18149792-C-T p.Pro97Ser missense ACTL8 76 83216 9.13286E-4 41608 1 0.008125
1-18149792-C-G p.Pro97Ala missense ACTL8 3 83216 3.60508E-5 41608 0 5.56975E-5
1-18149792-C-A p.Pro97Thr missense ACTL8 1 83216 1.20169E-5 41608 0 1.65289E-5
1-18149806-G-A p.Thr101Thr synonymous ACTL8 4 83104 4.81325E-5 41552 0 8.29132E-6
1-18149807-G-A p.Glu102Lys missense ACTL8 4 83104 4.81325E-5 41552 0 6.37186E-5
1-18149818-G-A p.Leu105Leu synonymous ACTL8 2 82922 2.41191E-5 41461 0 3.18613E-5
1-18149821-G-A p.Arg106Arg synonymous ACTL8 1 82856 1.20691E-5 41428 0 NA
1-18149827-T-C p.Pro108Pro synonymous ACTL8 3 82688 3.6281E-5 41344 0 2.80034E-5
1-18149829-C-T p.Ala109Val missense ACTL8 7 82558 8.47889E-5 41279 0 5.03525E-4
1-18149830-G-A p.Ala109Ala synonymous ACTL8 11 82546 1.33259E-4 41273 0 0.00100705
1-18149835-G-A p.Arg111Gln missense ACTL8 2 82402 2.42713E-5 41201 0 5.08699E-5
1-18152255-G-A c.349-7G>A splice_region ACTL8 5 82178 6.08435E-5 41089 0 8.28025E-4
1-18152260-A-G c.349-2A>G splice_acceptor ACTL8 1 82366 1.21409E-5 41183 0 8.38392E-6
1-18152269-T-C p.Phe119Ser missense ACTL8 1 82488 1.2123E-5 41244 0 NA
1-18152277-C-T p.Leu122Leu synonymous ACTL8 1 82560 1.21124E-5 41280 0 NA
1-18152279-G-A p.Leu122Leu synonymous ACTL8 10 82578 1.21098E-4 41289 0 8.79093E-4
1-18152284-T-TC p.Ser126fs frameshift ACTL8 1 82614 1.21045E-5 41307 0 NA
1-18152290-C-T p.Ser126Leu missense ACTL8 2 82680 2.41896E-5 41340 0 NA
1-18152295-C-T p.Leu128Phe missense ACTL8 1 82722 1.20887E-5 41361 0 NA
1-18152310-C-T p.Leu133Leu synonymous ACTL8 1 82834 1.20723E-5 41417 0 NA
1-18152327-T-C p.Tyr138Tyr synonymous ACTL8 2 82814 2.41505E-5 41407 0 1.98975E-5
1-18152332-C-T p.Ser140Phe missense ACTL8 2 82814 2.41505E-5 41407 0 NA
1-18152345-C-T p.Thr144Thr synonymous ACTL8 22 82772 2.6579E-4 41386 0 1.59276E-4
1-18152345-C-G p.Thr144Thr synonymous ACTL8 1 82772 1.20814E-5 41386 0 3.18552E-5
1-18152346-G-A p.Gly145Arg missense ACTL8 1 82770 1.20817E-5 41385 0 8.2575E-6
1-18152363-T-C p.Ser150Ser synonymous ACTL8 3 82712 3.62704E-5 41356 0 NA
1-18152365-G-A p.Gly151Asp missense ACTL8 1 82700 1.20919E-5 41350 0 NA
1-18152380-G-A p.Arg156His missense ACTL8 1 82542 1.2115E-5 41271 0 NA
1-18152381-C-T p.Arg156Arg synonymous ACTL8 2 82536 2.42319E-5 41268 0 3.18532E-5
1-18152388-C-T p.Pro159Ser missense ACTL8 3 82518 3.63557E-5 41259 0 3.18431E-5
1-18152390-T-A p.Pro159Pro synonymous ACTL8 9 82560 1.09012E-4 41280 0 1.99585E-5
1-18152396-C-T p.His161His synonymous ACTL8 41 82516 4.96873E-4 41258 0 0.00375
1-18152404-G-A p.Arg164His missense ACTL8 2 82406 2.42701E-5 41203 0 5.04032E-4
1-18152404-G-T p.Arg164Leu missense ACTL8 1 82408 1.21347E-5 41204 0 4.01168E-6
1-18152406-C-T p.Pro165Ser missense ACTL8 1 82532 1.21165E-5 41266 0 4.80792E-5
1-18152408-C-G p.Pro165Pro synonymous ACTL8 2 82518 2.42371E-5 41259 0 6.36943E-5
1-18152409-T-C p.Leu166Leu synonymous ACTL8 1 82506 1.21203E-5 41253 0 NA
1-18152414-C-T p.Pro167Pro synonymous ACTL8 70 82522 8.48259E-4 41261 0 0.00103979
1-18152415-G-A p.Ala168Thr missense ACTL8 4 82490 4.84907E-5 41245 0 6.37105E-5
1-18152424-A-G p.Lys171Glu missense ACTL8 3 82608 3.63161E-5 41304 0 0.00133818
1-18152428-C-T p.Thr172Met missense ACTL8 3 82678 3.62853E-5 41339 0 5.82945E-5
1-18152438-C-T p.Phe175Phe synonymous ACTL8 3 82712 3.62704E-5 41356 0 6.25E-4
1-18152441-C-T p.Ala176Ala synonymous ACTL8 4 82756 4.83349E-5 41378 0 6.65857E-5
1-18152442-G-A p.Gly177Ser missense ACTL8 1 82786 1.20793E-5 41393 0 8.32071E-6
1-18152449-ATC-A p.Ser181fs frameshift ACTL8 2 82828 2.41464E-5 41414 0 4.01962E-6
1-18152456-C-T p.Ser181Ser synonymous ACTL8 6 82860 7.24113E-5 41430 0 4.02382E-5
1-18152482-A-G p.Lys190Arg missense ACTL8 2 82968 2.41057E-5 41484 0 8.30096E-6
1-18152487-G-A p.Asp192Asn missense ACTL8 1 82972 1.20523E-5 41486 0 2.49041E-5
1-18152492-C-T p.Cys193Cys synonymous ACTL8 1 82958 1.20543E-5 41479 0 5.03525E-4
1-18152493-G-A p.Asp194Asn missense ACTL8 4 82956 4.82183E-5 41478 0 3.18451E-5
1-18152525-C-T p.Val204Val synonymous ACTL8 3 83016 3.61376E-5 41508 0 6.37227E-5
1-18152525-C-A p.Val204Val synonymous ACTL8 1 83016 1.20459E-5 41508 0 NA
1-18152526-G-A p.Ala205Thr missense ACTL8 6 83010 7.22804E-5 41505 0 6.64198E-5
1-18152529-G-A p.Val206Met missense ACTL8 1 83036 1.2043E-5 41518 0 6.37186E-5
1-18152529-GTGACTCAGA-G p.Thr207_Met209del disruptive_inframe_deletion ACTL8 1 83036 1.2043E-5 41518 0 NA
1-18152530-T-G p.Val206Gly missense ACTL8 60 83056 7.22404E-4 41528 0 6.25E-4
1-18152537-G-A p.Gln208Gln synonymous ACTL8 8 83090 9.62811E-5 41545 0 4.06865E-6
1-18152542-A-G p.Asn210Ser missense ACTL8 1 83102 1.20334E-5 41551 0 NA
1-18152552-C-T p.Tyr213Tyr synonymous ACTL8 2 83110 2.40645E-5 41555 0 3.18431E-5
1-18152553-G-A p.Val214Met missense ACTL8 3 83108 3.60976E-5 41554 0 4.06888E-6
1-18152557-C-T p.Pro215Leu missense ACTL8 9 83114 1.08285E-4 41557 0 5.6942E-5
1-18152558-G-A p.Pro215Pro synonymous ACTL8 6 83126 7.21796E-5 41563 0 3.6619E-5
1-18152567-G-A p.Leu218Leu synonymous ACTL8 11 83140 1.32307E-4 41570 0 5.03525E-4
1-18152568-G-C p.Gly219Arg missense ACTL8 1 83130 1.20294E-5 41565 0 8.29807E-6
1-18152569-G-A p.Gly219Glu missense ACTL8 2 83132 2.40581E-5 41566 0 8.29793E-6
1-18152574-G-A p.Ala221Thr missense ACTL8 1 83106 1.20328E-5 41553 0 1.16165E-4
1-18152575-C-T p.Ala221Val missense ACTL8 1 83118 1.20311E-5 41559 0 8.29696E-6
1-18152582-C-T p.Asp223Asp synonymous ACTL8 13761 82884 0.166027 41442 1282 0.170912
1-18152589-G-C p.Glu226Gln missense ACTL8 1 83096 1.20343E-5 41548 0 NA
1-18152591-G-T p.Glu226Asp missense ACTL8 2 83104 2.40662E-5 41552 0 8.29807E-6
1-18152597-G-A p.Gln228Gln synonymous ACTL8 167 83048 0.00201089 41524 1 0.00352467
1-18152603-T-C p.Ser230Ser synonymous ACTL8 1 83020 1.20453E-5 41510 0 NA
1-18152610-G-C p.Asp233His missense ACTL8 4 83010 4.8187E-5 41505 0 4.01613E-6
1-18152615-G-C p.Glu234Asp missense ACTL8 5 82960 6.027E-5 41480 0 6.37146E-5
1-18152627-T-C p.Tyr238Tyr synonymous ACTL8 1 82922 1.20595E-5 41461 0 2.49149E-5
1-18152639-C-T p.Asp242Asp synonymous ACTL8 2 82794 2.41563E-5 41397 0 6.37267E-5
1-18152646-C-T p.Arg245Cys missense ACTL8 49 82768 5.92016E-4 41384 1 0.003125
1-18152647-G-A p.Arg245His missense ACTL8 1 82740 1.20861E-5 41370 0 4.15883E-5
1-18152648-C-T p.Arg245Arg synonymous ACTL8 2 82752 2.41686E-5 41376 0 1.19914E-5
1-18152660-C-T p.Thr249Thr synonymous ACTL8 4 82788 4.83162E-5 41394 0 3.18695E-5
1-18152661-C-T p.Pro250Ser missense ACTL8 2 82812 2.41511E-5 41406 0 3.18756E-5
1-18152661-C-G p.Pro250Ala missense ACTL8 1 82812 1.20755E-5 41406 0 NA
1-18152662-C-T p.Pro250Leu missense ACTL8 1 82828 1.20732E-5 41414 0 8.31753E-6
1-18152663-C-T p.Pro250Pro synonymous ACTL8 1 82836 1.2072E-5 41418 0 NA
1-18152665-T-C p.Met251Thr missense ACTL8 2 82808 2.41523E-5 41404 0 1.66351E-5
1-18152669-G-A p.Gln252Gln synonymous ACTL8 2 82804 2.41534E-5 41402 0 1.19763E-5
1-18152671-G-A p.Arg253Gln missense ACTL8 6 82810 7.2455E-5 41405 0 1.75671E-4
1-18152699-G-T p.Pro262Pro synonymous ACTL8 1 82894 1.20636E-5 41447 0 NA
1-18152705-G-A p.Val264Val synonymous ACTL8 1 82906 1.20619E-5 41453 0 NA
1-18152708-C-T p.Phe265Phe synonymous ACTL8 1 82926 1.20589E-5 41463 0 8.33597E-6
1-18152709-G-A p.Glu266Lys missense ACTL8 2 82928 2.41173E-5 41464 0 3.18796E-5
1-18152715-C-T p.Pro268Ser missense ACTL8 2 82922 2.41191E-5 41461 0 5.83781E-5
1-18152716-C-T p.Pro268Leu missense ACTL8 2 82916 2.41208E-5 41458 0 4.17139E-5
1-18152717-G-A p.Pro268Pro synonymous ACTL8 1 82942 1.20566E-5 41471 0 1.5982E-5
1-18152719-G-T p.Gly269Val missense ACTL8 1 82940 1.20569E-5 41470 0 6.25E-4
1-18152729-C-G p.Ile272Met missense ACTL8 1 82998 1.20485E-5 41499 0 NA
1-18152732-A-G p.Pro273Pro synonymous ACTL8 1 83002 1.20479E-5 41501 0 NA
1-18152733-C-T p.Arg274Trp missense ACTL8 1 83014 1.20462E-5 41507 0 3.99313E-6
1-18152734-G-A p.Arg274Gln missense ACTL8 4 83014 4.81846E-5 41507 0 3.18593E-5
1-18152734-G-C p.Arg274Pro missense ACTL8 1 83014 1.20462E-5 41507 0 NA
1-18152736-G-A p.Ala275Thr missense ACTL8 1 83024 1.20447E-5 41512 0 NA
1-18152750-C-T p.Ser279Ser synonymous ACTL8 10 83050 1.20409E-4 41525 0 6.25E-4
1-18152762-C-T p.Cys283Cys synonymous ACTL8 1 83036 1.2043E-5 41518 0 9.58803E-5
1-18152763-G-A p.Glu284Lys missense ACTL8 2 83046 2.4083E-5 41523 0 1.99644E-5
1-18152771-C-T p.Ser286Ser synonymous ACTL8 2 83104 2.40662E-5 41552 0 1.67023E-5
1-18152771-C-G p.Ser286Ser synonymous ACTL8 5 83104 6.01656E-5 41552 0 1.75841E-4
1-18152772-C-G p.Leu287Val missense ACTL8 2 83096 2.40685E-5 41548 0 3.18715E-5
1-18152775-C-T p.Arg288Cys missense ACTL8 1 83068 1.20383E-5 41534 0 6.3743E-5
1-18152776-G-A p.Arg288His missense ACTL8 1 83074 1.20375E-5 41537 0 4.17516E-5
1-18152793-C-T p.His294Tyr missense ACTL8 10 83102 1.20334E-4 41551 0 1.7972E-4
1-18152795-C-T p.His294His synonymous ACTL8 1 83102 1.20334E-5 41551 0 4.17084E-5
1-18152796-G-A p.Val295Met missense ACTL8 4 83106 4.81313E-5 41553 0 3.99288E-6
1-18152807-C-T p.Cys298Cys synonymous ACTL8 3 83112 3.60959E-5 41556 0 2.50067E-5
1-18152808-G-C p.Gly299Arg missense ACTL8 1 83134 1.20288E-5 41567 0 NA
1-18152822-C-G p.Leu303Leu synonymous ACTL8 8 83166 9.61932E-5 41583 1 0.00100705
1-18152828-C-T p.Pro305Pro synonymous ACTL8 1 83200 1.20192E-5 41600 0 1.59407E-5
1-18152829-G-C p.Gly306Arg missense ACTL8 1 83202 1.20189E-5 41601 0 NA
1-18152850-A-C p.Arg313Arg synonymous ACTL8 2 83278 2.40159E-5 41639 0 2.48201E-5
1-18152852-G-C p.Arg313Ser missense ACTL8 1 83282 1.20074E-5 41641 0 NA
1-18152853-G-A p.Glu314Lys missense ACTL8 1 83286 1.20068E-5 41643 0 NA
1-18152861-G-T p.Met316Ile missense ACTL8 1 83296 1.20054E-5 41648 0 3.18674E-5
1-18152861-G-C p.Met316Ile missense ACTL8 1 83296 1.20054E-5 41648 0 8.26966E-6
1-18152871-G-A p.Val320Ile missense ACTL8 15 83306 1.80059E-4 41653 0 4.7789E-4
1-18152888-C-A p.Ala325Ala synonymous ACTL8 1 83330 1.20005E-5 41665 0 6.37389E-5
1-18152892-G-A p.Val327Ile missense ACTL8 3 83334 3.59997E-5 41667 0 4.13811E-5
1-18152939-C-T p.Ser342Ser synonymous ACTL8 1526 83278 0.0183242 41639 74 0.0361311
1-18152940-G-C p.Val343Leu missense ACTL8 1 83296 1.20054E-5 41648 0 NA
1-18152949-C-T p.His346Tyr missense ACTL8 1 83300 1.20048E-5 41650 0 4.02599E-6
1-18152954-T-G p.Leu347Leu synonymous ACTL8 2 83292 2.40119E-5 41646 0 4.43674E-5
1-18152962-A-G p.Tyr350Cys missense ACTL8 1 83298 1.20051E-5 41649 0 4.05844E-6
1-18152977-T-C p.Met355Thr missense ACTL8 16 83302 1.92072E-4 41651 0 4.46507E-4
1-18152983-G-C p.Arg357Pro missense ACTL8 2 83280 2.40154E-5 41640 0 1.76988E-5
1-18152990-G-A p.Glu359Glu synonymous ACTL8 1 83272 1.20088E-5 41636 0 1.78562E-5
1-18152996-T-A p.Gly361Gly synonymous ACTL8 2 83254 2.40229E-5 41627 0 2.72134E-5
1-18153000-C-T p.His363Tyr missense ACTL8 1 83260 1.20106E-5 41630 0 NA