Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-74120181-A-G c.-37+3A>G splice_region ACTG2 892 2934 0.304022 1467 151 0.331596
2-74128456-C-T p.Thr6Thr synonymous ACTG2 2 83234 2.40286E-5 41617 0 4.02878E-6
2-74128459-C-T p.Thr7Thr synonymous ACTG2 2 83242 2.40263E-5 41621 0 2.00995E-5
2-74128465-C-T p.Leu9Leu synonymous ACTG2 4 83262 4.80411E-5 41631 1 3.60355E-5
2-74128511-G-A p.Asp25Asn missense ACTG2 1 83260 1.20106E-5 41630 0 3.97966E-6
2-74128517-G-GC p.Arg29fs frameshift ACTG2 3 83226 3.60464E-5 41613 0 NA
2-74128540-C-T p.Ser34Ser synonymous ACTG2 2 83230 2.40298E-5 41615 0 3.98007E-6
2-74128543-T-C p.Ile35Ile synonymous ACTG2 2 83216 2.40338E-5 41608 0 3.18593E-5
2-74128574-C-T p.His46Tyr missense ACTG2 9 82934 1.0852E-4 41467 0 3.18512E-5
2-74128606-G-C c.*9G>C splice_region ACTG2 2 82340 2.42895E-5 41170 0 8.47142E-5
2-74128612-G-A c.*10+5G>A splice_region ACTG2 1 82038 1.21895E-5 41019 0 5.10065E-5
2-74128614-G-A c.*10+7G>A splice_region ACTG2 2 81858 2.44326E-5 40929 0 3.43619E-5
2-74129499-G-C p.Gly47Arg missense ACTG2 1 83332 1.20002E-5 41666 0 NA
2-74129506-G-A p.Gly49Asp missense ACTG2 1 83358 1.19964E-5 41679 0 1.1933E-5
2-74129516-C-G p.Asp52Glu missense ACTG2 1 83380 1.19933E-5 41690 0 NA
2-74129525-G-C p.Val55Val synonymous ACTG2 3 83392 3.59747E-5 41696 0 3.57916E-5
2-74129543-C-G p.Ser61Arg missense ACTG2 2 83402 2.39802E-5 41701 0 NA
2-74129555-C-T p.Ile65Ile synonymous ACTG2 4 83392 4.79662E-5 41696 0 8.23968E-6
2-74129582-C-T p.His74His synonymous ACTG2 3 83386 3.59773E-5 41693 0 3.97716E-5
2-74129583-G-C p.Gly75Arg missense ACTG2 1 83386 1.19924E-5 41693 0 NA
2-74129606-C-T p.Asp82Asp synonymous ACTG2 24 83366 2.87887E-4 41683 0 8.28448E-4
2-74129615-G-C p.Lys85Asn missense+splice_region ACTG2 1 83360 1.19962E-5 41680 0 NA
2-74129743-C-A c.256-8C>A splice_region ACTG2 26 80644 3.22405E-4 40322 1 2.86697E-4
2-74129756-C-T p.His87His synonymous ACTG2 7 79590 8.79507E-5 39795 0 6.36902E-5
2-74129757-G-A p.Asp88Asn missense ACTG2 1 79512 1.25767E-5 39756 0 NA
2-74129758-A-G p.Asp88Gly missense ACTG2 3 79416 3.77758E-5 39708 0 4.57289E-5
2-74129759-C-T p.Asp88Asp synonymous ACTG2 1 79428 1.259E-5 39714 0 4.58043E-5
2-74129771-C-T p.Asn92Asn synonymous ACTG2 3 78814 3.80643E-5 39407 0 0.00125
2-74129772-C-G p.Leu93Val missense ACTG2 2 78734 2.5402E-5 39367 0 6.42649E-6
2-74129785-A-G p.His97Arg missense ACTG2 1 77700 1.287E-5 38850 0 NA
2-74129791-C-T p.Ser99Phe missense ACTG2 9 77192 1.16592E-4 38596 0 6.36821E-5
2-74129800-AT-A p.Cys103fs frameshift ACTG2 1 75986 1.31603E-5 37993 0 NA
2-74129805-A-G p.Asn104Asp missense ACTG2 2 75326 2.65513E-5 37663 0 4.94266E-5
2-74129815-T-C p.Leu107Pro missense ACTG2 1 73660 1.35759E-5 36830 0 NA
2-74129823-T-A p.Phe110Ile missense ACTG2 1 72526 1.37882E-5 36263 0 NA
2-74129825-C-A p.Phe110Leu missense ACTG2 9 72198 1.24657E-4 36099 0 2.02799E-4
2-74129839-C-T p.Pro115Leu missense ACTG2 1 69790 1.43287E-5 34895 0 1.30514E-5
2-74129849-G-A p.Pro118Pro synonymous ACTG2 3 67698 4.43145E-5 33849 0 3.27229E-5
2-74135433-T-C p.Phe91Ser missense ACTG2 1 51414 1.945E-5 25707 0 6.84556E-5
2-74135434-C-G p.Phe91Leu missense ACTG2 1 51418 1.94484E-5 25709 0 NA
2-74135440-G-A p.Gln93Gln synonymous ACTG2 91 51444 0.00176891 25722 0 0.00625
2-74135444-A-G p.Asn95Asp missense ACTG2 2 51458 3.88666E-5 25729 0 NA
2-74135448-T-C p.Ile96Thr missense ACTG2 2 51476 3.88531E-5 25738 0 6.82175E-6
2-74135454-G-C p.Arg98Thr missense ACTG2 1 51534 1.94047E-5 25767 0 6.82408E-6
2-74135457-G-T p.Ser99Ile missense ACTG2 2 51564 3.87868E-5 25782 0 2.86606E-4
2-74135457-G-A p.Ser99Asn missense ACTG2 1 51564 1.93934E-5 25782 0 3.18451E-5
2-74135797-T-C c.256-3T>C splice_region ACTG2 43155 73558 0.58668 36779 12476 0.649967
2-74135809-C-T p.His89Tyr missense ACTG2 1 82978 1.20514E-5 41489 0 NA
2-74135814-C-T p.Ser90Ser synonymous ACTG2 1 83062 1.20392E-5 41531 0 8.1642E-6
2-74135822-A-T p.Asn93Ile missense ACTG2 1 83126 1.20299E-5 41563 0 4.03688E-6
2-74135822-A-G p.Asn93Ser missense ACTG2 1 83126 1.20299E-5 41563 0 3.18715E-5
2-74135826-G-A p.Glu94Glu synonymous ACTG2 1 83146 1.2027E-5 41573 0 NA
2-74135831-G-A p.Arg96His missense ACTG2 1 83186 1.20213E-5 41593 0 4.00038E-6
2-74135856-C-G p.Thr104Thr synonymous ACTG2 1 83286 1.20068E-5 41643 0 8.26119E-6
2-74135862-C-T p.Leu106Leu synonymous ACTG2 1 83300 1.20048E-5 41650 0 NA
2-74135898-A-G p.Glu118Glu synonymous ACTG2 51148 82672 0.618686 41336 16161 0.651468
2-74135923-GA-G p.Asp128fs frameshift ACTG2 2 83286 2.40136E-5 41643 0 1.20119E-5
2-74135930-T-A p.Leu129* stop_gained ACTG2 1 83272 1.20088E-5 41636 0 NA
2-74135941-A-G p.Ile133Val missense ACTG2 1 83210 1.20178E-5 41605 0 NA
2-74135953-C-T p.His137Tyr missense ACTG2 3 83114 3.6095E-5 41557 0 6.36943E-5
2-74135955-T-C p.His137His synonymous ACTG2 2 83094 2.40691E-5 41547 0 6.25E-4
2-74135957-G-A p.Gly138Glu missense ACTG2 12 83078 1.44443E-4 41539 0 1.69966E-4
2-74135963-T-G p.Leu140Trp missense ACTG2 3 83002 3.61437E-5 41501 0 NA
2-74135966-C-A p.Ala141Asp missense ACTG2 2 82944 2.41127E-5 41472 0 6.37064E-5
2-74135973-C-A p.Tyr143* stop_gained ACTG2 1 82832 1.20726E-5 41416 0 1.63816E-5
2-74135973-C-G p.Tyr143* stop_gained ACTG2 2 82832 2.41453E-5 41416 0 3.18492E-5
2-74136177-T-G c.367-5T>G splice_region ACTG2 1 83276 1.20083E-5 41638 0 NA
2-74136184-C-T p.Ile123Ile splice_region+synonymous ACTG2 1 83294 1.20057E-5 41647 0 NA
2-74136213-T-C p.Met133Thr missense ACTG2 2 83300 2.40096E-5 41650 0 3.18112E-5
2-74136217-C-T p.Tyr134Tyr synonymous ACTG2 5 83284 6.00355E-5 41642 0 0.001875
2-74136218-G-A p.Val135Ile missense ACTG2 1 83276 1.20083E-5 41638 0 3.18695E-5
2-74136220-C-T p.Val135Val synonymous ACTG2 5 83286 6.00341E-5 41643 0 1.64731E-5
2-74136261-C-T p.Thr149Met missense ACTG2 1 83150 1.20265E-5 41575 0 NA
2-74136262-G-A p.Thr149Thr synonymous ACTG2 2 83138 2.40564E-5 41569 0 6.36699E-5
2-74140604-G-A c.452-8G>A splice_region ACTG2 1 82850 1.207E-5 41425 0 9.55536E-5
2-74140608-A-G c.452-4A>G splice_region ACTG2 1 82884 1.20651E-5 41442 0 3.18471E-5
2-74140616-C-T p.Ile152Ile synonymous ACTG2 860 83010 0.0103602 41505 39 0.0239309
2-74140622-G-A p.Leu154Leu synonymous ACTG2 3 83162 3.60742E-5 41581 0 6.37064E-5
2-74140638-G-C p.Val160Leu missense ACTG2 4 83220 4.80654E-5 41610 0 2.47942E-5
2-74140648-A-G p.Asn163Ser missense ACTG2 1 83266 1.20097E-5 41633 0 NA
2-74140711-G-A p.Arg184His missense ACTG2 2 83310 2.40067E-5 41655 0 1.19497E-5
2-74140713-G-T p.Asp185Tyr missense ACTG2 2 83310 2.40067E-5 41655 0 NA
2-74140721-G-A p.Thr187Thr synonymous ACTG2 2 83308 2.40073E-5 41654 0 5.57693E-5
2-74140724-C-T p.Asp188Asp synonymous ACTG2 1 83308 1.20036E-5 41654 0 3.1839E-5
2-74140730-C-T p.Leu190Leu synonymous ACTG2 3 83304 3.60127E-5 41652 0 1.19548E-5
2-74140754-C-T p.Gly198Gly synonymous ACTG2 1 83264 1.201E-5 41632 0 8.262E-6
2-74140766-G-A p.Val202Val synonymous ACTG2 1 83172 1.20233E-5 41586 0 3.18512E-5
2-74140781-G-T c.613+8G>T splice_region ACTG2 696 82990 0.00838655 41495 41 0.0256643
2-74141824-C-T p.Arg211* stop_gained ACTG2 1 82344 1.21442E-5 41172 0 1.73581E-5
2-74141832-C-T p.Ile213Ile synonymous ACTG2 1 82646 1.20998E-5 41323 0 3.18573E-5
2-74141853-G-A p.Val220Val synonymous ACTG2 2 83030 2.40877E-5 41515 0 6.37146E-5
2-74141855-C-T p.Ala221Val missense ACTG2 2 83036 2.40859E-5 41518 0 NA
2-74141856-C-T p.Ala221Ala synonymous ACTG2 3 83032 3.61306E-5 41516 0 5.03525E-4
2-74141892-C-A p.Ser233Ser synonymous ACTG2 1 83122 1.20305E-5 41561 0 NA
2-74141895-T-C p.Ser234Ser synonymous ACTG2 5 83140 6.01395E-5 41570 0 6.60219E-5
2-74141901-C-T p.Ser236Ser synonymous ACTG2 1 83134 1.20288E-5 41567 0 1.65044E-5
2-74141902-C-T p.Leu237Leu synonymous ACTG2 1 83134 1.20288E-5 41567 0 NA
2-74141909-A-G p.Lys239Arg missense ACTG2 2 83142 2.40552E-5 41571 0 NA
2-74141913-C-G p.Ser240Arg missense ACTG2 1 83136 1.20285E-5 41568 0 4.0E-6
2-74141922-G-A p.Leu243Leu synonymous ACTG2 1 83104 1.20331E-5 41552 0 NA
2-74141940-C-G p.Ile249Met missense ACTG2 1 83098 1.2034E-5 41549 0 4.00096E-6
2-74141945-T-C p.Ile251Thr missense ACTG2 10 83058 1.20398E-4 41529 0 2.48723E-5
2-74141949-C-T p.Gly252Gly synonymous ACTG2 3 83034 3.61298E-5 41517 0 4.0224E-6
2-74141955-G-A p.Glu254Glu synonymous ACTG2 1 82968 1.20528E-5 41484 0 NA
2-74141956-C-T p.Arg255Cys missense ACTG2 1 82940 1.20569E-5 41470 0 8.36862E-6
2-74141962-C-T p.Arg257Cys missense ACTG2 1 82914 1.20607E-5 41457 0 NA
2-74141976-C-T p.Thr261Thr synonymous ACTG2 2 82674 2.41914E-5 41337 0 1.24643E-5
2-74141985-G-A p.Gln264Gln synonymous ACTG2 33 82382 4.00573E-4 41191 0 3.18654E-4
2-74141986-C-T p.Pro265Ser missense ACTG2 1 82342 1.21445E-5 41171 0 NA
2-74143708-T-C c.806-3T>C splice_region ACTG2 1 83010 1.20467E-5 41505 0 NA
2-74143721-C-T p.Ser272Ser synonymous ACTG2 23 83124 2.76695E-4 41562 0 2.86898E-4
2-74143721-C-A p.Ser272Ser synonymous ACTG2 1 83124 1.20302E-5 41562 0 NA
2-74143722-G-A p.Ala273Thr missense ACTG2 2 83130 2.40587E-5 41565 0 6.37511E-5
2-74143787-A-G p.Leu294Leu synonymous ACTG2 1 83344 1.19985E-5 41672 0 NA
2-74143798-A-G p.Asn298Ser missense ACTG2 2 83348 2.39958E-5 41674 0 5.1708E-5
2-74143808-T-TG p.Thr304fs frameshift ACTG2 1 83348 1.19979E-5 41674 0 NA
2-74143820-C-T p.Thr305Thr synonymous ACTG2 5 83358 5.99822E-5 41679 0 5.03525E-4
2-74143832-C-G p.Gly309Gly synonymous ACTG2 2 83340 2.39981E-5 41670 0 1.64853E-5
2-74143865-C-G p.Ala320Ala synonymous ACTG2 1 83292 1.2006E-5 41646 0 9.55475E-5
2-74143874-C-T p.Pro323Pro synonymous ACTG2 89 83280 0.00106868 41640 0 0.00169952
2-74143893-G-A c.987+1G>A splice_donor ACTG2 2 83166 2.40483E-5 41583 0 NA
2-74146552-T-C c.988-7T>C splice_region ACTG2 1 82666 1.20969E-5 41333 0 NA
2-74146554-T-C c.988-5T>C splice_region ACTG2 1 82672 1.2096E-5 41336 0 NA
2-74146556-C-T c.988-3C>T splice_region ACTG2 1 82700 1.20919E-5 41350 0 1.65953E-5
2-74146561-T-G p.Ile330Met missense+splice_region ACTG2 10 82760 1.20831E-4 41380 0 1.19531E-5
2-74146567-TC-CA p.AlaPro332AlaThr missense ACTG2 1 82860 1.20685E-5 41430 0 NA
2-74146570-C-G p.Pro333Pro synonymous ACTG2 12 82886 1.44777E-4 41443 0 1.15491E-4
2-74146588-A-G p.Ser339Ser synonymous ACTG2 1 83150 1.20265E-5 41575 0 NA
2-74146598-G-A p.Gly343Arg missense ACTG2 1 83248 1.20123E-5 41624 0 3.18552E-5
2-74146608-T-C p.Ile346Thr missense ACTG2 1 83310 1.20034E-5 41655 0 NA
2-74146621-C-T p.Leu350Leu synonymous ACTG2 1 83342 1.19988E-5 41671 0 NA
2-74146624-C-T p.Ser351Ser synonymous ACTG2 1 83338 1.19993E-5 41669 0 3.9769E-6
2-74146627-C-T p.Thr352Thr synonymous ACTG2 1 83346 1.19982E-5 41673 0 NA
2-74146638-T-G p.Met356Arg missense ACTG2 2 83354 2.3994E-5 41677 0 NA
2-74146645-C-T p.Ile358Ile synonymous ACTG2 1 83348 1.19979E-5 41674 0 8.23873E-6
2-74146660-T-C p.Tyr363Tyr synonymous ACTG2 2 83352 2.39946E-5 41676 0 1.19311E-5
2-74146669-A-C p.Ala366Ala synonymous ACTG2 1 83338 1.19993E-5 41669 0 3.18471E-5
2-74146802-T-A c.*1296T>A splice_region ACTG2 3 77892 3.85149E-5 38946 0 6.36862E-5
2-74146990-A-C c.*288A>C splice_region ACTG2 1 8400 1.19048E-4 4200 0 1.91058E-4