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 80928 2.47133E-5 40464 0 4.02878E-6
2-74128459-C-T p.Thr7Thr synonymous ACTG2 2 80936 2.47109E-5 40468 0 2.00995E-5
2-74128465-C-T p.Leu9Leu synonymous ACTG2 4 80956 4.94096E-5 40478 1 3.60355E-5
2-74128511-G-A p.Asp25Asn missense ACTG2 1 80962 1.23515E-5 40481 0 3.97966E-6
2-74128517-G-GC p.Arg29fs frameshift ACTG2 3 80930 3.70691E-5 40465 0 NA
2-74128540-C-T p.Ser34Ser synonymous ACTG2 2 80934 2.47115E-5 40467 0 3.98007E-6
2-74128543-T-C p.Ile35Ile synonymous ACTG2 2 80920 2.47158E-5 40460 0 3.18593E-5
2-74128574-C-T p.His46Tyr missense ACTG2 9 80648 1.11596E-4 40324 0 3.18512E-5
2-74128606-G-C c.*9G>C splice_region ACTG2 2 80132 2.49588E-5 40066 0 8.47142E-5
2-74128612-G-A c.*10+5G>A splice_region ACTG2 1 79870 1.25203E-5 39935 0 5.10065E-5
2-74128614-G-A c.*10+7G>A splice_region ACTG2 2 79718 2.50884E-5 39859 0 3.43619E-5
2-74129499-G-C p.Gly47Arg missense ACTG2 1 81024 1.2342E-5 40512 0 NA
2-74129506-G-A p.Gly49Asp missense ACTG2 1 81050 1.23381E-5 40525 0 1.1933E-5
2-74129516-C-G p.Asp52Glu missense ACTG2 1 81070 1.2335E-5 40535 0 NA
2-74129525-G-C p.Val55Val synonymous ACTG2 3 81082 3.69996E-5 40541 0 3.57916E-5
2-74129543-C-G p.Ser61Arg missense ACTG2 2 81090 2.4664E-5 40545 0 NA
2-74129555-C-T p.Ile65Ile synonymous ACTG2 4 81078 4.93352E-5 40539 0 8.23968E-6
2-74129582-C-T p.His74His synonymous ACTG2 3 81076 3.70023E-5 40538 0 3.97716E-5
2-74129583-G-C p.Gly75Arg missense ACTG2 1 81076 1.23341E-5 40538 0 NA
2-74129606-C-T p.Asp82Asp synonymous ACTG2 24 81058 2.96084E-4 40529 0 8.28448E-4
2-74129615-G-C p.Lys85Asn missense+splice_region ACTG2 1 81054 1.23375E-5 40527 0 NA
2-74129743-C-A c.256-8C>A splice_region ACTG2 26 78746 3.30176E-4 39373 1 2.86697E-4
2-74129756-C-T p.His87His synonymous ACTG2 7 77942 8.98104E-5 38971 0 6.36902E-5
2-74129757-G-A p.Asp88Asn missense ACTG2 1 77882 1.28399E-5 38941 0 NA
2-74129758-A-G p.Asp88Gly missense ACTG2 3 77800 3.85604E-5 38900 0 4.57289E-5
2-74129759-C-T p.Asp88Asp synonymous ACTG2 1 77810 1.28518E-5 38905 0 4.58043E-5
2-74129771-C-T p.Asn92Asn synonymous ACTG2 3 77294 3.88128E-5 38647 0 0.00125
2-74129772-C-G p.Leu93Val missense ACTG2 2 77230 2.58967E-5 38615 0 6.42649E-6
2-74129785-A-G p.His97Arg missense ACTG2 1 76422 1.30852E-5 38211 0 NA
2-74129791-C-T p.Ser99Phe missense ACTG2 9 76012 1.18402E-4 38006 0 6.36821E-5
2-74129800-AT-A p.Cys103fs frameshift ACTG2 1 75060 1.33227E-5 37530 0 NA
2-74129805-A-G p.Asn104Asp missense ACTG2 2 74522 2.68377E-5 37261 0 4.94266E-5
2-74129815-T-C p.Leu107Pro missense ACTG2 1 73210 1.36593E-5 36605 0 NA
2-74129823-T-A p.Phe110Ile missense ACTG2 1 72264 1.38381E-5 36132 0 NA
2-74129825-C-A p.Phe110Leu missense ACTG2 9 72016 1.24972E-4 36008 0 2.02799E-4
2-74129839-C-T p.Pro115Leu missense ACTG2 1 69868 1.43127E-5 34934 0 1.30514E-5
2-74129849-G-A p.Pro118Pro synonymous ACTG2 3 67928 4.41644E-5 33964 0 3.27229E-5
2-74135433-T-C p.Phe91Ser missense ACTG2 1 52074 1.92034E-5 26037 0 6.84556E-5
2-74135434-C-G p.Phe91Leu missense ACTG2 1 52078 1.9202E-5 26039 0 NA
2-74135440-G-A p.Gln93Gln synonymous ACTG2 92 52104 0.0017657 26052 0 0.00625
2-74135444-A-G p.Asn95Asp missense ACTG2 2 52118 3.83745E-5 26059 0 NA
2-74135448-T-C p.Ile96Thr missense ACTG2 2 52140 3.83583E-5 26070 0 6.82175E-6
2-74135454-G-C p.Arg98Thr missense ACTG2 1 52202 1.91564E-5 26101 0 6.82408E-6
2-74135457-G-T p.Ser99Ile missense ACTG2 2 52232 3.82907E-5 26116 0 2.86606E-4
2-74135457-G-A p.Ser99Asn missense ACTG2 1 52232 1.91454E-5 26116 0 3.18451E-5
2-74135797-T-C c.256-3T>C splice_region ACTG2 42012 71474 0.587794 35737 12152 0.649967
2-74135809-C-T p.His89Tyr missense ACTG2 1 80670 1.23962E-5 40335 0 NA
2-74135814-C-T p.Ser90Ser synonymous ACTG2 1 80752 1.23836E-5 40376 0 8.1642E-6
2-74135822-A-T p.Asn93Ile missense ACTG2 1 80814 1.23741E-5 40407 0 4.03688E-6
2-74135822-A-G p.Asn93Ser missense ACTG2 1 80814 1.23741E-5 40407 0 3.18715E-5
2-74135826-G-A p.Glu94Glu synonymous ACTG2 1 80836 1.23707E-5 40418 0 NA
2-74135831-G-A p.Arg96His missense ACTG2 1 80874 1.23649E-5 40437 0 4.00038E-6
2-74135856-C-G p.Thr104Thr synonymous ACTG2 1 80974 1.23496E-5 40487 0 8.26119E-6
2-74135862-C-T p.Leu106Leu synonymous ACTG2 1 80988 1.23475E-5 40494 0 NA
2-74135898-A-G p.Glu118Glu synonymous ACTG2 49877 80442 0.620037 40221 15780 0.651468
2-74135923-GA-G p.Asp128fs frameshift ACTG2 2 80982 2.46968E-5 40491 0 1.20119E-5
2-74135930-T-A p.Leu129* stop_gained ACTG2 1 80972 1.23499E-5 40486 0 NA
2-74135941-A-G p.Ile133Val missense ACTG2 1 80912 1.23591E-5 40456 0 NA
2-74135953-C-T p.His137Tyr missense ACTG2 5 80838 6.18521E-5 40419 0 6.36943E-5
2-74135955-T-C p.His137His synonymous ACTG2 2 80818 2.4747E-5 40409 0 6.25E-4
2-74135957-G-A p.Gly138Glu missense ACTG2 12 80812 1.48493E-4 40406 0 1.69966E-4
2-74135963-T-G p.Leu140Trp missense ACTG2 3 80750 3.71517E-5 40375 0 NA
2-74135966-C-A p.Ala141Asp missense ACTG2 2 80698 2.47838E-5 40349 0 6.37064E-5
2-74135973-C-A p.Tyr143* stop_gained ACTG2 1 80606 1.2406E-5 40303 0 1.63816E-5
2-74135973-C-G p.Tyr143* stop_gained ACTG2 2 80606 2.4812E-5 40303 0 3.18492E-5
2-74136177-T-G c.367-5T>G splice_region ACTG2 1 80998 1.2346E-5 40499 0 NA
2-74136184-C-T p.Ile123Ile splice_region+synonymous ACTG2 1 81014 1.23435E-5 40507 0 NA
2-74136213-T-C p.Met133Thr missense ACTG2 2 81018 2.46859E-5 40509 0 3.18112E-5
2-74136217-C-T p.Tyr134Tyr synonymous ACTG2 5 81004 6.17253E-5 40502 0 0.001875
2-74136218-G-A p.Val135Ile missense ACTG2 1 80996 1.23463E-5 40498 0 3.18695E-5
2-74136220-C-T p.Val135Val synonymous ACTG2 5 81002 6.17269E-5 40501 0 1.64731E-5
2-74136261-C-T p.Thr149Met missense ACTG2 1 80886 1.23631E-5 40443 0 NA
2-74136262-G-A p.Thr149Thr synonymous ACTG2 2 80876 2.47292E-5 40438 0 6.36699E-5
2-74140604-G-A c.452-8G>A splice_region ACTG2 1 80560 1.24131E-5 40280 0 9.55536E-5
2-74140608-A-G c.452-4A>G splice_region ACTG2 1 80596 1.24076E-5 40298 0 3.18471E-5
2-74140616-C-T p.Ile152Ile synonymous ACTG2 843 80716 0.010444 40358 37 0.0239309
2-74140622-G-A p.Leu154Leu synonymous ACTG2 3 80862 3.71002E-5 40431 0 6.37064E-5
2-74140638-G-C p.Val160Leu missense ACTG2 4 80914 4.94352E-5 40457 0 2.47942E-5
2-74140648-A-G p.Asn163Ser missense ACTG2 1 80954 1.23527E-5 40477 0 NA
2-74140711-G-A p.Arg184His missense ACTG2 2 81002 2.46907E-5 40501 0 1.19497E-5
2-74140713-G-T p.Asp185Tyr missense ACTG2 2 81002 2.46907E-5 40501 0 NA
2-74140721-G-A p.Thr187Thr synonymous ACTG2 2 80998 2.4692E-5 40499 0 5.57693E-5
2-74140724-C-T p.Asp188Asp synonymous ACTG2 2 81000 2.46914E-5 40500 0 3.1839E-5
2-74140730-C-T p.Leu190Leu synonymous ACTG2 3 81000 3.7037E-5 40500 0 1.19548E-5
2-74140740-C-T p.Leu194Phe missense ACTG2 1 80998 1.2346E-5 40499 0 7.97435E-6
2-74140766-G-A p.Val202Val synonymous ACTG2 1 80874 1.23649E-5 40437 0 3.18512E-5
2-74140781-G-T c.613+8G>T splice_region ACTG2 679 80702 0.00841367 40351 40 0.0256643
2-74141824-C-T p.Arg211* stop_gained ACTG2 1 80096 1.2485E-5 40048 0 1.73581E-5
2-74141832-C-T p.Ile213Ile synonymous ACTG2 1 80380 1.24409E-5 40190 0 3.18573E-5
2-74141853-G-A p.Val220Val synonymous ACTG2 2 80742 2.47703E-5 40371 0 6.37146E-5
2-74141855-C-T p.Ala221Val missense ACTG2 2 80748 2.47684E-5 40374 0 NA
2-74141856-C-T p.Ala221Ala synonymous ACTG2 3 80744 3.71545E-5 40372 0 5.03525E-4
2-74141892-C-A p.Ser233Ser synonymous ACTG2 1 80826 1.23723E-5 40413 0 NA
2-74141895-T-C p.Ser234Ser synonymous ACTG2 5 80844 6.18475E-5 40422 0 6.60219E-5
2-74141901-C-T p.Ser236Ser synonymous ACTG2 1 80838 1.23704E-5 40419 0 1.65044E-5
2-74141902-C-T p.Leu237Leu synonymous ACTG2 1 80836 1.23707E-5 40418 0 NA
2-74141909-A-G p.Lys239Arg missense ACTG2 2 80842 2.47396E-5 40421 0 NA
2-74141913-C-G p.Ser240Arg missense ACTG2 1 80836 1.23707E-5 40418 0 4.0E-6
2-74141922-G-A p.Leu243Leu synonymous ACTG2 1 80806 1.23753E-5 40403 0 NA
2-74141940-C-G p.Ile249Met missense ACTG2 1 80798 1.23765E-5 40399 0 4.00096E-6
2-74141945-T-C p.Ile251Thr missense ACTG2 10 80760 1.23824E-4 40380 0 2.48723E-5
2-74141949-C-T p.Gly252Gly synonymous ACTG2 3 80742 3.71554E-5 40371 0 4.0224E-6
2-74141955-G-A p.Glu254Glu synonymous ACTG2 1 80674 1.23956E-5 40337 0 NA
2-74141956-C-T p.Arg255Cys missense ACTG2 1 80648 1.23996E-5 40324 0 8.36862E-6
2-74141962-C-T p.Arg257Cys missense ACTG2 1 80626 1.24029E-5 40313 0 NA
2-74141976-C-T p.Thr261Thr synonymous ACTG2 2 80396 2.48769E-5 40198 0 1.24643E-5
2-74141985-G-A p.Gln264Gln synonymous ACTG2 33 80120 4.11882E-4 40060 0 3.18654E-4
2-74141986-C-T p.Pro265Ser missense ACTG2 1 80086 1.24866E-5 40043 0 NA
2-74143708-T-C c.806-3T>C splice_region ACTG2 1 80706 1.23907E-5 40353 0 NA
2-74143721-C-T p.Ser272Ser synonymous ACTG2 22 80820 2.7221E-4 40410 0 2.86898E-4
2-74143721-C-A p.Ser272Ser synonymous ACTG2 1 80820 1.23732E-5 40410 0 NA
2-74143722-G-A p.Ala273Thr missense ACTG2 2 80822 2.47457E-5 40411 0 6.37511E-5
2-74143787-A-G p.Leu294Leu synonymous ACTG2 1 81034 1.23405E-5 40517 0 NA
2-74143798-A-G p.Asn298Ser missense ACTG2 2 81036 2.46804E-5 40518 0 5.1708E-5
2-74143808-T-TG p.Thr304fs frameshift ACTG2 1 81034 1.23405E-5 40517 0 NA
2-74143820-C-T p.Thr305Thr synonymous ACTG2 3 81044 3.70169E-5 40522 0 5.03525E-4
2-74143832-C-G p.Gly309Gly synonymous ACTG2 2 81028 2.46828E-5 40514 0 1.64853E-5
2-74143865-C-G p.Ala320Ala synonymous ACTG2 1 80986 1.23478E-5 40493 0 9.55475E-5
2-74143874-C-T p.Pro323Pro synonymous ACTG2 92 80976 0.00113614 40488 0 0.00169952
2-74143893-G-A c.987+1G>A splice_donor ACTG2 2 80860 2.47341E-5 40430 0 NA
2-74146552-T-C c.988-7T>C splice_region ACTG2 1 80384 1.24403E-5 40192 0 NA
2-74146556-C-T c.988-3C>T splice_region ACTG2 1 80412 1.2436E-5 40206 0 1.65953E-5
2-74146561-T-G p.Ile330Met missense+splice_region ACTG2 11 80474 1.3669E-4 40237 0 1.19531E-5
2-74146567-TC-CA p.AlaPro332AlaThr missense ACTG2 1 80570 1.24116E-5 40285 0 NA
2-74146570-C-G p.Pro333Pro synonymous ACTG2 12 80596 1.48891E-4 40298 0 1.15491E-4
2-74146588-A-G p.Ser339Ser synonymous ACTG2 1 80852 1.23683E-5 40426 0 NA
2-74146598-G-A p.Gly343Arg missense ACTG2 1 80954 1.23527E-5 40477 0 3.18552E-5
2-74146608-T-C p.Ile346Thr missense ACTG2 1 81012 1.23439E-5 40506 0 NA
2-74146621-C-T p.Leu350Leu synonymous ACTG2 1 81044 1.2339E-5 40522 0 NA
2-74146624-C-T p.Ser351Ser synonymous ACTG2 1 81038 1.23399E-5 40519 0 3.9769E-6
2-74146627-C-T p.Thr352Thr synonymous ACTG2 1 81046 1.23387E-5 40523 0 NA
2-74146638-T-G p.Met356Arg missense ACTG2 2 81054 2.46749E-5 40527 0 NA
2-74146645-C-T p.Ile358Ile synonymous ACTG2 1 81050 1.23381E-5 40525 0 8.23873E-6
2-74146660-T-C p.Tyr363Tyr synonymous ACTG2 2 81052 2.46755E-5 40526 0 1.19311E-5
2-74146669-A-C p.Ala366Ala synonymous ACTG2 1 81036 1.23402E-5 40518 0 3.18471E-5
2-74146802-T-A c.*1296T>A splice_region ACTG2 3 76314 3.93113E-5 38157 0 6.36862E-5
2-74146990-A-C c.*288A>C splice_region ACTG2 1 8452 1.18315E-4 4226 0 1.91058E-4