Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-114647650-C-T c.-207C>T 5_prime_UTR_premature_start_codon_gain ACTR3 1 43754 2.28551E-5 21877 0 NA
2-114647654-C-T c.-203C>T 5_prime_UTR_premature_start_codon_gain ACTR3 1 46992 2.12802E-5 23496 0 NA
2-114647683-C-T c.-174C>T 5_prime_UTR_premature_start_codon_gain ACTR3 2 61516 3.25119E-5 30758 0 3.19857E-5
2-114647711-A-G c.-146A>G 5_prime_UTR_premature_start_codon_gain ACTR3 1 71640 1.39587E-5 35820 0 NA
2-114647741-C-T c.-116C>T 5_prime_UTR_premature_start_codon_gain ACTR3 1 74828 1.3364E-5 37414 0 NA
2-114647758-C-T c.-99C>T 5_prime_UTR_premature_start_codon_gain ACTR3 1 75538 1.32384E-5 37769 0 NA
2-114647901-G-GGA c.44+1_44+2insGA splice_donor ACTR3 2 59244 3.37587E-5 29622 0 NA
2-114647902-T-TACA c.44+2_44+3insACA splice_region ACTR3 1 58444 1.71104E-5 29222 0 NA
2-114647903-A-ACAAAACT c.44+3_44+4insCAAAACT splice_region ACTR3 1 58502 1.70934E-5 29251 0 NA
2-114647904-AGGGG-A c.44+5_44+8delGGGG splice_region ACTR3 1 57660 1.7343E-5 28830 0 NA
2-114647907-GG-AC c.44+7_44+8delGGinsAC splice_region ACTR3 5 57868 8.64035E-5 28934 0 NA
2-114647907-G-A c.44+7G>A splice_region ACTR3 3 57870 5.18403E-5 28935 0 1.5983E-4
2-114648178-A-G c.-287A>G 5_prime_UTR_premature_start_codon_gain ACTR3 1 29076 3.43926E-5 14538 0 NA
2-114648212-C-T c.-253C>T 5_prime_UTR_premature_start_codon_gain ACTR3 1 26698 3.7456E-5 13349 0 6.37633E-5
2-114648336-A-G c.-129A>G 5_prime_UTR_premature_start_codon_gain ACTR3 1 24450 4.08998E-5 12225 0 NA
2-114670745-G-C c.45-4G>C splice_region ACTR3 13 82378 1.57809E-4 41189 0 0.00125628
2-114670753-A-G p.Thr17Ala missense ACTR3 3 82538 3.63469E-5 41269 0 6.37024E-5
2-114670755-A-C p.Thr17Thr synonymous ACTR3 1 82582 1.21092E-5 41291 0 1.66681E-5
2-114670781-A-T p.Glu26Val missense ACTR3 1 82692 1.20931E-5 41346 0 NA
2-114670798-C-T p.Pro32Ser missense ACTR3 1 82588 1.21083E-5 41294 0 4.29041E-6
2-114670811-ATTTCT-A c.100+8_100+12delTTTCT splice_region ACTR3 1 82458 1.21274E-5 41229 0 4.40606E-6
2-114674497-A-G p.Gln46Arg missense ACTR3 1 83284 1.20071E-5 41642 0 NA
2-114674559-A-G p.Ile67Val missense ACTR3 4 83238 4.8055E-5 41619 0 8.50687E-6
2-114674573-A-G p.Thr71Thr synonymous ACTR3 1 83204 1.20187E-5 41602 0 NA
2-114684919-T-A c.226-3T>A splice_region ACTR3 3 81434 3.68397E-5 40717 1 NA
2-114684931-C-T p.Arg79Cys missense ACTR3 1 81342 1.22938E-5 40671 0 NA
2-114684932-G-A p.Arg79His missense ACTR3 1 81446 1.22781E-5 40723 0 NA
2-114684944-T-C p.Val83Ala missense ACTR3 2 82312 2.42978E-5 41156 0 NA
2-114684954-G-T p.Trp86Cys missense ACTR3 1 82266 1.21557E-5 41133 0 NA
2-114684973-A-G p.Met93Val missense ACTR3 5 82602 6.05312E-5 41301 0 NA
2-114684978-G-A p.Glu94Glu synonymous ACTR3 1 82554 1.21133E-5 41277 0 3.18695E-5
2-114684984-G-A p.Val96Val synonymous ACTR3 1 82490 1.21227E-5 41245 0 NA
2-114688945-A-G p.Asn135Ser missense ACTR3 93 82546 0.00112664 41273 1 0.00347266
2-114688952-A-G p.Pro137Pro synonymous ACTR3 1 82576 1.21101E-5 41288 0 NA
2-114688958-G-A p.Leu139Leu synonymous ACTR3 1 82454 1.2128E-5 41227 0 NA
2-114688962-A-C p.Ile141Leu missense ACTR3 2 82240 2.43191E-5 41120 0 NA
2-114688977-A-G c.432+4A>G splice_region ACTR3 1 81580 1.22579E-5 40790 0 4.77136E-6
2-114691849-G-T c.433-7G>T splice_region ACTR3 3 82482 3.63716E-5 41241 0 2.36608E-4
2-114691849-G-A c.433-7G>A splice_region ACTR3 1 82506 1.21203E-5 41253 0 9.88631E-5
2-114691856-G-A p.Ala145Thr missense+splice_region ACTR3 1 82918 1.20601E-5 41459 0 NA
2-114691859-G-A p.Val146Ile missense ACTR3 9 82996 1.08439E-4 41498 0 4.3847E-6
2-114691862-C-T p.Leu147Phe missense ACTR3 1 82998 1.20485E-5 41499 0 NA
2-114691864-TGCC-T p.Ala148del conservative_inframe_deletion ACTR3 1 83064 1.20389E-5 41532 0 NA
2-114691873-T-C p.Ala150Ala synonymous ACTR3 1 83174 1.2023E-5 41587 0 4.16043E-6
2-114691879-T-C p.Ser152Ser synonymous ACTR3 1 83224 1.20158E-5 41612 0 NA
2-114691882-G-C p.Trp153Cys missense ACTR3 2 83250 2.4024E-5 41625 0 NA
2-114691904-C-A p.Arg161Arg synonymous ACTR3 8 83320 9.60154E-5 41660 0 2.59E-4
2-114691909-G-A p.Thr162Thr synonymous ACTR3 2 83326 2.40021E-5 41663 0 8.23696E-5
2-114691915-C-T p.Thr164Thr synonymous ACTR3 3 83336 3.59988E-5 41668 0 6.25E-4
2-114691921-G-A p.Thr166Thr synonymous ACTR3 1 83330 1.20005E-5 41665 0 8.2371E-6
2-114691940-G-A p.Gly173Ser missense ACTR3 1 83222 1.20161E-5 41611 0 NA
2-114691955-A-G p.Ile178Val missense ACTR3 1 83192 1.20204E-5 41596 0 NA
2-114697578-A-G p.Ile195Val missense ACTR3 1 83228 1.20152E-5 41614 0 0.00125
2-114697580-C-T p.Ile195Ile synonymous ACTR3 1 83230 1.20149E-5 41615 0 3.58691E-5
2-114697598-A-G p.Thr201Thr synonymous ACTR3 1 83282 1.20074E-5 41641 0 2.47382E-5
2-114697632-G-A p.Val213Ile missense ACTR3 1 83252 1.20117E-5 41626 0 1.64995E-5
2-114697634-A-G p.Val213Val synonymous ACTR3 1 83256 1.20111E-5 41628 0 1.65E-5
2-114697642-C-T p.Pro216Leu missense ACTR3 2 83254 2.40229E-5 41627 0 NA
2-114699777-T-C p.Tyr233Tyr synonymous ACTR3 1 82744 1.20855E-5 41372 0 8.58207E-6
2-114699792-A-G p.Leu238Leu synonymous ACTR3 1 82852 1.20697E-5 41426 0 9.57426E-5
2-114699794-T-TA p.Glu241fs frameshift ACTR3 1 82866 1.20677E-5 41433 0 NA
2-114699817-A-G p.Thr247Ala missense ACTR3 1 83090 1.20351E-5 41545 0 3.18918E-5
2-114699823-G-A p.Gly249Arg missense ACTR3 2 83092 2.40697E-5 41546 0 NA
2-114699839-A-C p.Lys254Thr missense ACTR3 1 83110 1.20322E-5 41555 0 NA
2-114699852-A-G p.Gly258Gly synonymous ACTR3 2 83084 2.4072E-5 41542 0 0.00125
2-114699857-A-G p.Asn260Ser missense ACTR3 4 83088 4.81417E-5 41544 0 3.19061E-5
2-114699859-G-A p.Ala261Thr missense ACTR3 2 83076 2.40743E-5 41538 0 1.65196E-5
2-114699862-A-G p.Ile262Val missense ACTR3 2 83040 2.40848E-5 41520 0 3.19081E-5
2-114699869-A-G p.Lys264Arg missense ACTR3 1 83000 1.20482E-5 41500 0 NA
2-114699885-C-T p.Ile269Ile synonymous ACTR3 2 82924 2.41185E-5 41462 0 4.12718E-5
2-114699921-C-A p.Ile281Ile synonymous ACTR3 1 82338 1.21451E-5 41169 0 NA
2-114699940-A-AT c.858+4_858+5insT splice_region ACTR3 391 81772 0.00478159 40886 4 0.00996272
2-114709047-A-AT c.859-4dupT splice_region ACTR3 1 81572 1.22591E-5 40786 0 NA
2-114709079-A-G p.Gln294Gln synonymous ACTR3 6 82552 7.26815E-5 41276 0 5.83596E-5
2-114709083-A-G p.Ile296Val missense ACTR3 2 82606 2.42113E-5 41303 0 3.18613E-5
2-114709105-T-C p.Val303Ala missense ACTR3 2 82858 2.41377E-5 41429 0 NA
2-114709138-C-T p.Pro314Leu missense ACTR3 1 83000 1.20482E-5 41500 0 NA
2-114709155-A-G c.951+7A>G splice_region ACTR3 1 82934 1.20578E-5 41467 0 3.18552E-5
2-114709317-T-C p.Gly324Gly synonymous ACTR3 1 83126 1.20299E-5 41563 0 NA
2-114709324-A-G p.Met327Val missense ACTR3 2 83178 2.40448E-5 41589 0 7.97524E-6
2-114709338-T-C p.Phe331Phe synonymous ACTR3 1 83216 1.20169E-5 41608 0 3.98191E-6
2-114709352-A-T p.Gln336Leu missense ACTR3 1 83234 1.20143E-5 41617 0 NA
2-114709360-T-G p.Leu339Val missense ACTR3 1 83232 1.20146E-5 41616 0 3.9794E-6
2-114709389-A-G p.Lys348Lys synonymous ACTR3 1 83156 1.20256E-5 41578 0 NA
2-114709404-G-C p.Leu353Phe missense ACTR3 1 83062 1.20392E-5 41531 0 NA
2-114709410-T-A p.Gly355Gly synonymous ACTR3 1 83032 1.20435E-5 41516 0 NA
2-114709411-G-GA p.Gly356fs frameshift ACTR3 1 83018 1.20456E-5 41509 0 NA
2-114709412-G-GAAAATAAATATAATATTTAAAAAGAGAAAAGTTTAAAGATATAATA p.Arg357fs frameshift ACTR3 1 83002 1.20479E-5 41501 0 NA
2-114709419-G-A p.Leu358Leu synonymous ACTR3 2531 82818 0.030561 41409 44 0.0313177
2-114713209-A-G p.Ile363Val missense ACTR3 1 83172 1.20233E-5 41586 0 2.47468E-5
2-114713217-A-T p.Val365Val synonymous ACTR3 1 83248 1.20123E-5 41624 0 NA
2-114713224-A-T p.Ile368Phe missense ACTR3 1 83286 1.20068E-5 41643 0 NA
2-114713247-T-C p.Tyr375Tyr synonymous ACTR3 1 83346 1.19982E-5 41673 0 8.24348E-6
2-114713250-A-G p.Ala376Ala synonymous ACTR3 1 83350 1.19976E-5 41675 0 NA
2-114713282-C-T p.Thr387Met missense+splice_region ACTR3 1 83250 1.2012E-5 41625 0 7.97951E-6
2-114713290-G-A c.1161+7G>A splice_region ACTR3 1 83124 1.20302E-5 41562 0 NA
2-114714929-G-A c.1162-8G>A splice_region ACTR3 1 82780 1.20802E-5 41390 0 6.42797E-5
2-114714943-T-A p.Phe390Ile missense ACTR3 1 82912 1.2061E-5 41456 0 NA
2-114714957-C-T p.Cys394Cys synonymous ACTR3 2 82978 2.41028E-5 41489 0 6.25E-4
2-114714962-C-A p.Thr396Asn missense ACTR3 1 82986 1.20502E-5 41493 0 NA
2-114714983-T-C p.Ile403Thr missense ACTR3 3 83088 3.61063E-5 41544 0 8.2616E-6
2-114714996-T-C p.Ile407Ile synonymous ACTR3 2 83136 2.4057E-5 41568 0 6.25E-4
2-114715021-G-A p.Val416Ile missense ACTR3 2 83166 2.40483E-5 41583 0 NA