Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-149946078-A-G p.His210His synonymous ACTR3C 2 60860 3.28623E-5 30430 0 8.14094E-6
7-149946083-A-G p.Phe209Leu missense ACTR3C 1 60968 1.6402E-5 30484 0 NA
7-149946107-C-T p.Gly201Arg missense ACTR3C 1 60966 1.64026E-5 30483 0 NA
7-149946108-G-A p.His200His synonymous ACTR3C 1 60992 1.63956E-5 30496 0 7.64795E-6
7-149946127-A-C p.Leu194Arg missense ACTR3C 18 60798 2.96062E-4 30399 0 2.54664E-4
7-149946141-C-T p.Met189Ile missense+splice_region ACTR3C 4 60682 6.59174E-5 30341 0 8.34126E-6
7-149981837-C-T c.564+5G>A splice_region ACTR3C 1 81618 1.22522E-5 40809 0 NA
7-149981841-C-T c.564+1G>A splice_donor ACTR3C 1 81664 1.22453E-5 40832 0 NA
7-149981844-T-G p.Lys188Gln missense+splice_region ACTR3C 16 81700 1.95838E-4 40850 0 6.18812E-4
7-149981846-T-C p.Tyr187Cys missense ACTR3C 1 81732 1.22351E-5 40866 0 8.42772E-6
7-149981851-C-A p.Pro185Pro synonymous ACTR3C 2 81748 2.44654E-5 40874 0 NA
7-149981852-G-A p.Pro185Leu missense ACTR3C 7 81756 8.56206E-5 40878 0 6.41031E-5
7-149981854-A-G p.Arg184Arg synonymous ACTR3C 1 81764 1.22303E-5 40882 0 3.35779E-4
7-149981855-C-T p.Arg184His missense ACTR3C 177 81730 0.00216567 40865 0 0.00178526
7-149981856-G-A p.Arg184Cys missense ACTR3C 2635 81406 0.0323686 40703 61 0.06125
7-149981858-C-T p.Arg183Gln missense ACTR3C 2 81788 2.44535E-5 40894 0 5.01748E-5
7-149981863-A-G p.Asp181Asp synonymous ACTR3C 11 81796 1.34481E-4 40898 0 6.09756E-4
7-149981865-C-T p.Asp181Asn missense ACTR3C 2 81800 2.44499E-5 40900 0 6.37349E-5
7-149981866-G-A p.Ile180Ile synonymous ACTR3C 2 81804 2.44487E-5 40902 0 3.33078E-5
7-149981874-A-G p.Cys178Arg missense ACTR3C 1 81810 1.22234E-5 40905 0 3.18552E-5
7-149981880-G-A p.Gln176* stop_gained ACTR3C 3 81836 3.66587E-5 40918 0 1.24506E-4
7-149981882-A-C p.Ile175Arg missense ACTR3C 1 81834 1.22199E-5 40917 0 NA
7-149981888-T-G p.Glu173Ala missense ACTR3C 4 81838 4.8877E-5 40919 0 4.14821E-5
7-149981890-A-G p.Asp172Asp synonymous ACTR3C 1 81840 1.2219E-5 40920 0 NA
7-149981910-A-C p.Ser166Ala missense ACTR3C 1 81826 1.22211E-5 40913 0 4.00288E-6
7-149981911-C-T p.Glu165Glu synonymous ACTR3C 1 81826 1.22211E-5 40913 0 NA
7-149981916-T-C p.Met164Val missense ACTR3C 215 81796 0.00262849 40898 2 0.00896776
7-149981927-T-A p.Asn160Ile missense ACTR3C 6 81798 7.33514E-5 40899 0 9.55231E-5
7-149981933-A-G p.Phe158Ser missense+splice_region ACTR3C 2 81784 2.44547E-5 40892 0 4.06042E-5
7-149981935-C-T c.472-1G>A splice_acceptor ACTR3C 1 81772 1.22291E-5 40886 0 8.59033E-6
7-149983450-C-T c.471+6G>A splice_region ACTR3C 1 83394 1.19913E-5 41697 0 3.18451E-5
7-149983455-C-T c.471+1G>A splice_donor ACTR3C 5 83394 5.99564E-5 41697 0 NA
7-149983459-C-T p.Pro156Pro synonymous ACTR3C 1 83392 1.19916E-5 41696 0 1.65656E-5
7-149983460-G-A p.Pro156Leu missense ACTR3C 3 83390 3.59755E-5 41695 0 2.48423E-5
7-149983461-G-A p.Pro156Ser missense ACTR3C 2 83390 2.39837E-5 41695 0 2.31803E-4
7-149983464-G-T p.His155Asn missense ACTR3C 1 83394 1.19913E-5 41697 0 3.97991E-6
7-149983485-G-A p.Leu148Leu synonymous ACTR3C 2 83390 2.39837E-5 41695 0 NA
7-149983489-T-C p.Arg146Arg synonymous ACTR3C 2 83396 2.3982E-5 41698 0 NA
7-149983495-G-A p.Tyr144Tyr synonymous ACTR3C 1 83392 1.19916E-5 41696 0 3.18959E-5
7-149983504-G-A p.Asp141Asp synonymous ACTR3C 1 83398 1.19907E-5 41699 0 3.30038E-5
7-149983509-T-C p.Ile140Val missense ACTR3C 1 83396 1.1991E-5 41698 0 NA
7-149983515-ACTT-A p.Lys137del conservative_inframe_deletion ACTR3C 1 83390 1.19918E-5 41695 0 7.95621E-6
7-149983516-C-T p.Lys137Lys synonymous ACTR3C 4 83386 4.79697E-5 41693 0 4.77437E-5
7-149983517-T-G p.Lys137Thr missense ACTR3C 3 83390 3.59755E-5 41695 0 1.19368E-5
7-149983531-C-T p.Ala132Ala synonymous ACTR3C 1 83372 1.19944E-5 41686 0 3.97921E-6
7-149983532-G-A p.Ala132Val missense ACTR3C 5 83374 5.99707E-5 41687 0 2.88295E-4
7-149983539-T-C p.Ile130Val missense ACTR3C 1 83344 1.19985E-5 41672 0 3.18289E-5
7-149983542-C-T p.Gly129Ser missense ACTR3C 3 83328 3.60023E-5 41664 0 9.616E-5
7-149983543-C-T p.Thr128Thr synonymous ACTR3C 15 83304 1.80063E-4 41652 0 5.13248E-4
7-149983544-G-A p.Thr128Met missense ACTR3C 1 83318 1.20022E-5 41659 0 NA
7-149983565-T-C p.Gln121Arg missense ACTR3C 6001 72450 0.0828295 36225 188 0.225579
7-149983566-G-A p.Gln121* stop_gained ACTR3C 2655 80200 0.0331047 40100 10 0.085625
7-149983576-A-G p.Asp117Asp synonymous ACTR3C 1 83254 1.20114E-5 41627 0 2.47897E-5
7-149983586-G-C p.Ala114Gly missense ACTR3C 1 83206 1.20184E-5 41603 0 NA
7-149983605-C-T p.Asp108Asn missense ACTR3C 2 83114 2.40633E-5 41557 0 5.98248E-5
7-149983606-G-A p.Pro107Pro synonymous ACTR3C 3 83092 3.61046E-5 41546 0 3.07189E-4
7-149983608-G-A p.Pro107Ser missense ACTR3C 3 83074 3.61124E-5 41537 0 8.35227E-6
7-149983615-G-A p.Tyr104Tyr synonymous ACTR3C 207 82912 0.00249662 41456 0 0.00229883
7-149983624-T-G p.Lys101Asn missense ACTR3C 38 82818 4.58837E-4 41409 0 0.00159067
7-149986543-A-T p.Ile98Asn missense ACTR3C 1 80078 1.24878E-5 40039 0 NA
7-149986544-TG-T p.Ile98fs frameshift ACTR3C 1 80072 1.24888E-5 40036 0 NA
7-149986553-C-A p.Ala95Ser missense ACTR3C 1 80102 1.24841E-5 40051 0 NA
7-149986570-T-C p.Glu89Gly missense ACTR3C 1 80312 1.24514E-5 40156 0 9.61538E-5
7-149986576-G-A p.Pro87Leu missense ACTR3C 4 80352 4.9781E-5 40176 0 9.86641E-6
7-149986595-C-T p.Glu81Lys missense ACTR3C 1 80440 1.24316E-5 40220 0 3.19795E-5
7-149986599-T-C p.Leu79Leu synonymous ACTR3C 1 80452 1.24298E-5 40226 0 8.14371E-5
7-149986606-T-C p.Gln77Arg missense ACTR3C 1 80558 1.24134E-5 40279 0 NA
7-149986615-A-T p.Phe74Tyr missense ACTR3C 95 80540 0.00117954 40270 0 0.00160373
7-149986621-G-A p.Thr72Met missense ACTR3C 19 80680 2.35498E-4 40340 0 8.6251E-4
7-149986637-C-T p.Ala67Thr missense ACTR3C 4 80796 4.95074E-5 40398 0 6.41475E-5
7-149986642-G-A p.Pro65Leu missense ACTR3C 8 80854 9.89438E-5 40427 0 1.23074E-5
7-149986650-T-A p.Lys62Asn missense ACTR3C 1 80872 1.23652E-5 40436 0 NA
7-149986650-T-C p.Lys62Lys synonymous ACTR3C 1 80874 1.23649E-5 40437 0 1.17321E-5
7-149986660-C-G p.Ser59Thr missense ACTR3C 1 80768 1.23811E-5 40384 0 NA
7-149986665-A-G p.Ile57Ile synonymous ACTR3C 1 80720 1.23885E-5 40360 0 NA
7-149986675-C-A p.Gly54Val missense ACTR3C 1 80530 1.24177E-5 40265 0 NA
7-149990430-C-T p.Gly42Arg missense ACTR3C 1 79364 1.26002E-5 39682 0 7.86999E-5
7-149990444-A-C p.Ile37Arg missense ACTR3C 1 80530 1.24177E-5 40265 0 1.79163E-4
7-149990446-C-G p.Gly36Gly synonymous ACTR3C 1 80672 1.23959E-5 40336 0 NA
7-149990450-G-A p.Thr35Met missense ACTR3C 1 80924 1.23573E-5 40462 0 4.26791E-5
7-149990459-C-T p.Arg32His missense ACTR3C 1 81210 1.23138E-5 40605 0 1.4986E-4
7-149990474-C-T p.Arg27Gln missense ACTR3C 1 81074 1.23344E-5 40537 0 7.09683E-5
7-149990475-G-A p.Arg27* stop_gained ACTR3C 1 81146 1.23235E-5 40573 0 0.00100705
7-149990481-TC-T p.Trp24fs frameshift ACTR3C 3 81082 3.69996E-5 40541 0 0.00100705
7-149990484-A-C p.Trp24Gly missense ACTR3C 1 80960 1.23518E-5 40480 0 NA
7-149990491-C-T p.Ala21Ala synonymous ACTR3C 1 80574 1.2411E-5 40287 0 7.55401E-5
7-149992338-T-C c.45+3A>G splice_region ACTR3C 1 81778 1.22282E-5 40889 0 8.27144E-6
7-149992352-T-C p.Ile12Val missense ACTR3C 11 81816 1.34448E-4 40908 0 2.86588E-4
7-149992367-C-T p.Val7Ile missense ACTR3C 1 81834 1.22199E-5 40917 0 3.98168E-6
7-149992368-G-A p.Asn6Asn synonymous ACTR3C 1 81832 1.22202E-5 40916 0 1.6488E-5
7-149992374-T-C p.Ser4Ser synonymous ACTR3C 14 81826 1.71095E-4 40913 0 6.06061E-4
7-149992379-C-T p.Glu3Lys missense ACTR3C 226 81816 0.0027623 40908 2 0.00544413
7-149992380-G-A p.Phe2Phe synonymous ACTR3C 2 81816 2.44451E-5 40908 0 6.25E-4
7-149992381-A-G p.Phe2Ser missense ACTR3C 1 81826 1.22211E-5 40913 0 NA
7-149992399-T-A p.Tyr95Phe missense ACTR3C 1 81808 1.22237E-5 40904 0 NA
7-149992401-C-T p.Glu94Glu synonymous ACTR3C 837 81714 0.010243 40857 6 0.0175
7-149992404-T-C p.Arg93Arg synonymous ACTR3C 1 81808 1.22237E-5 40904 0 1.64799E-5
7-149992407-G-GT p.Asn92fs frameshift ACTR3C 1 81806 1.2224E-5 40903 0 NA
7-149992416-T-C p.Thr89Thr synonymous ACTR3C 1 81784 1.22273E-5 40892 0 3.18329E-5
7-149992420-T-C p.Asn88Ser missense ACTR3C 1 81770 1.22294E-5 40885 0 1.19454E-5
7-149992430-G-T p.Pro85Thr missense ACTR3C 1 81742 1.22336E-5 40871 0 4.12072E-5
7-149992435-G-C p.Thr83Arg missense+splice_region ACTR3C 8 81714 9.79024E-5 40857 0 1.91034E-4
7-150020556-A-G c.246+2T>C splice_donor ACTR3C 6 48038 1.24901E-4 24019 0 3.98089E-4
7-150020562-C-G p.Arg81Pro missense ACTR3C 1 48762 2.05078E-5 24381 0 3.18817E-5
7-150020563-G-C p.Arg81Gly missense ACTR3C 65 48900 0.00132924 24450 0 0.00216712
7-150020572-C-T p.Ala78Thr missense ACTR3C 1 49700 2.01207E-5 24850 0 NA
7-150020573-CGGCTCT-C p.Glu76_Pro77del disruptive_inframe_deletion ACTR3C 1 49882 2.00473E-5 24941 0 NA
7-150020573-C-T p.Pro77Pro synonymous ACTR3C 1 49882 2.00473E-5 24941 0 NA
7-150020592-T-C p.Gln71Arg missense ACTR3C 1 50936 1.96325E-5 25468 0 3.3537E-4
7-150020600-A-G p.Ser68Ser synonymous ACTR3C 2 51342 3.89545E-5 25671 0 3.18939E-5
7-150020604-C-G p.Gly67Ala missense ACTR3C 1 51478 1.94258E-5 25739 0 NA
7-150020619-G-C p.Pro62Arg missense ACTR3C 7 51778 1.35193E-4 25889 0 3.44935E-5
7-150020630-C-T p.Gln58Gln synonymous ACTR3C 1 51698 1.93431E-5 25849 0 NA
7-150020643-C-T p.Gly54Glu missense ACTR3C 2 51866 3.85609E-5 25933 0 NA
7-150020645-C-G p.Glu53Asp missense ACTR3C 3 51882 5.78235E-5 25941 0 8.31241E-6
7-150020654-G-A p.Arg50Arg synonymous ACTR3C 2 51848 3.85743E-5 25924 0 2.44248E-5
7-150020656-G-A p.Arg50Cys missense ACTR3C 4 51870 7.71159E-5 25935 0 1.28667E-4
7-150020658-G-A p.Pro49Leu missense ACTR3C 1 51894 1.927E-5 25947 0 NA
7-150020672-A-T p.Pro44Pro synonymous ACTR3C 10 51944 1.92515E-4 25972 0 2.28206E-4
7-150020683-AG-A p.Phe41fs frameshift ACTR3C 1 52098 1.91946E-5 26049 0 NA
7-150020685-G-A p.Pro40Leu missense ACTR3C 2 52136 3.83612E-5 26068 0 NA
7-150020688-G-A p.Ala39Val missense ACTR3C 1 52114 1.91887E-5 26057 0 3.18776E-5
7-150020689-C-T p.Ala39Thr missense ACTR3C 1 52054 1.92108E-5 26027 0 7.77786E-6
7-150020696-C-T p.Pro36Pro synonymous ACTR3C 1 52106 1.91916E-5 26053 0 NA
7-150020698-G-A p.Pro36Ser missense ACTR3C 3 52140 5.75374E-5 26070 0 NA
7-150020700-G-GC p.Ala35fs frameshift ACTR3C 1 52120 1.91865E-5 26060 0 7.60503E-6
7-150020708-C-G p.Pro32Pro synonymous ACTR3C 1 52202 1.91564E-5 26101 0 7.58783E-6
7-150020714-C-CG p.Pro32fs frameshift ACTR3C 1 52242 1.91417E-5 26121 0 NA
7-150020715-G-T p.Pro30Gln missense ACTR3C 8 52240 1.53139E-4 26120 0 2.23129E-4
7-150020721-C-T p.Gly28Asp missense ACTR3C 1 52280 1.91278E-5 26140 0 1.51051E-5
7-150020722-C-T p.Gly28Ser missense ACTR3C 1 52306 1.91183E-5 26153 0 NA
7-150020731-G-T p.Pro25Thr missense ACTR3C 2 52332 3.82175E-5 26166 0 NA
7-150020732-GC-G p.Gly24fs frameshift ACTR3C 2 52328 3.82205E-5 26164 0 NA
7-150020761-T-A p.Ser15Cys missense ACTR3C 1 52406 1.90818E-5 26203 0 NA
7-150020770-C-A p.Ala12Ser missense ACTR3C 2 52388 3.81767E-5 26194 0 8.15661E-5
7-150020771-C-T p.Leu11Leu synonymous ACTR3C 1 52398 1.90847E-5 26199 0 3.18532E-5
7-150020782-G-A p.Arg8Trp missense ACTR3C 2 52388 3.81767E-5 26194 0 7.46938E-6
7-150020791-A-G p.Trp5Arg missense ACTR3C 2 52390 3.81752E-5 26195 0 2.24608E-5
7-150020792-GC-G p.Gly4fs frameshift ACTR3C 8 52390 1.52701E-4 26195 0 8.15395E-5
7-150020795-C-G p.Lys3Asn missense ACTR3C 1 52404 1.90825E-5 26202 0 2.25033E-5
7-150020799-CCCAT-C p.Met1fs frameshift ACTR3C 8 52402 1.52666E-4 26201 0 8.15661E-5
7-150020802-A-G p.Met1? start_lost ACTR3C 2 52406 3.81636E-5 26203 0 NA