Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-65454898-G-T c.-146G>T 5_prime_UTR_premature_start_codon_gain ACTR2 1 75082 1.33188E-5 37541 0 NA
2-65454902-G-T c.-142G>T 5_prime_UTR_premature_start_codon_gain ACTR2 1 75572 1.32324E-5 37786 0 NA
2-65454908-C-T c.-136C>T 5_prime_UTR_premature_start_codon_gain ACTR2 2 76038 2.63026E-5 38019 0 3.18532E-5
2-65454938-T-C c.-106T>C 5_prime_UTR_premature_start_codon_gain ACTR2 2 78272 2.55519E-5 39136 0 3.18857E-5
2-65454989-C-T c.-55C>T 5_prime_UTR_premature_start_codon_gain ACTR2 1 79960 1.25063E-5 39980 0 6.36983E-5
2-65455002-C-T c.-42C>T 5_prime_UTR_premature_start_codon_gain ACTR2 1 80104 1.24838E-5 40052 0 9.06947E-6
2-65455009-T-C c.-35T>C 5_prime_UTR_premature_start_codon_gain ACTR2 2 80106 2.49669E-5 40053 0 1.77614E-5
2-65455017-C-T c.-27C>T 5_prime_UTR_premature_start_codon_gain ACTR2 1 80128 1.248E-5 40064 0 NA
2-65455033-C-T c.-11C>T 5_prime_UTR_premature_start_codon_gain ACTR2 2 80192 2.49401E-5 40096 0 6.37511E-5
2-65455059-A-C p.Arg6Arg synonymous ACTR2 1 80018 1.24972E-5 40009 0 NA
2-65455067-G-A p.Val8Val synonymous ACTR2 1 79928 1.25113E-5 39964 0 NA
2-65455085-C-T p.Gly14Gly synonymous ACTR2 2 79404 2.51876E-5 39702 0 NA
2-65467009-C-T p.Gly24Gly synonymous ACTR2 1 82702 1.20916E-5 41351 0 NA
2-65467012-T-C p.Ser25Ser synonymous ACTR2 14 82768 1.69147E-4 41384 0 3.18309E-5
2-65467045-T-G p.Val36Val synonymous ACTR2 1 83184 1.20215E-5 41592 0 6.36659E-5
2-65467052-C-T p.Pro39Ser missense ACTR2 2 83218 2.40333E-5 41609 0 NA
2-65467067-A-G p.Thr44Ala missense ACTR2 1 83234 1.20143E-5 41617 0 NA
2-65467073-A-G p.Lys46Glu missense ACTR2 1 83232 1.20146E-5 41616 0 NA
2-65469098-C-T n.282-8C>T splice_region ACTR2 1 79450 1.25865E-5 39725 0 NA
2-65469098-C-G n.282-8C>G splice_region ACTR2 1 79450 1.25865E-5 39725 0 NA
2-65469182-G-T c.160-1G>T splice_acceptor ACTR2 1 81930 1.22055E-5 40965 0 8.28048E-6
2-65473402-T-G c.-46T>G 5_prime_UTR_premature_start_codon_gain ACTR2 2 25464 7.85423E-5 12732 0 NA
2-65473445-A-G n.359+4A>G splice_region ACTR2 2 37118 5.38822E-5 18559 0 NA
2-65473683-G-C p.Ser62Thr missense ACTR2 3 82286 3.64582E-5 41143 0 8.25164E-6
2-65473693-A-G p.Arg65Arg synonymous ACTR2 1 82410 1.21345E-5 41205 0 NA
2-65473723-A-G p.Glu75Glu synonymous ACTR2 1 82520 1.21183E-5 41260 0 NA
2-65473730-A-G p.Ile78Val missense ACTR2 1 82552 1.21136E-5 41276 0 3.19101E-5
2-65473771-C-T p.Tyr91Tyr synonymous ACTR2 3 82704 3.62739E-5 41352 0 NA
2-65473806-G-A p.Arg103Lys missense ACTR2 3 83032 3.61306E-5 41516 0 3.98254E-6
2-65473867-T-C p.Ile123Ile synonymous ACTR2 2 83184 2.40431E-5 41592 0 NA
2-65478153-A-G c.376-8A>G splice_region ACTR2 2 82258 2.43137E-5 41129 0 3.47467E-5
2-65478180-A-G p.Gln132Arg missense ACTR2 1 82656 1.20983E-5 41328 0 NA
2-65478187-C-T p.Ser134Ser synonymous ACTR2 4 82660 4.8391E-5 41330 0 1.07188E-4
2-65478188-G-A p.Gly135Ser missense ACTR2 1 82664 1.20972E-5 41332 0 2.04168E-5
2-65478196-T-C p.Tyr137Tyr synonymous ACTR2 1 82790 1.20788E-5 41395 0 4.04014E-6
2-65478217-G-A p.Leu144Leu synonymous ACTR2 1 82746 1.20852E-5 41373 0 3.18939E-5
2-65478232-A-G p.Gln149Gln splice_region+synonymous ACTR2 1 82546 1.21145E-5 41273 0 3.18695E-5
2-65478236-A-G c.448+3A>G splice_region ACTR2 1 82370 1.21403E-5 41185 0 2.47525E-5
2-65478237-G-C c.448+4G>C splice_region ACTR2 1 82338 1.21451E-5 41169 0 NA
2-65480872-T-C p.Thr153Thr synonymous ACTR2 43 83048 5.17773E-4 41524 0 0.00156576
2-65480876-G-A p.Val155Ile missense ACTR2 1 83078 1.20369E-5 41539 0 3.98238E-6
2-65480886-A-G p.Asp158Gly missense ACTR2 1 83134 1.20288E-5 41567 0 3.97924E-6
2-65480917-A-G p.Pro168Pro synonymous ACTR2 634 83210 0.00761928 41605 13 0.0173885
2-65480920-A-T p.Val169Val synonymous ACTR2 1 83240 1.20135E-5 41620 0 NA
2-65480938-C-G p.Leu175Leu synonymous ACTR2 2 83234 2.40286E-5 41617 0 1.64739E-5
2-65480978-A-G p.Ile189Val missense ACTR2 2 83202 2.40379E-5 41601 0 8.2394E-6
2-65480989-T-C p.Tyr192Tyr synonymous ACTR2 1 83176 1.20227E-5 41588 0 NA
2-65480999-G-C c.585+1G>C splice_donor ACTR2 1 83136 1.20285E-5 41568 0 NA
2-65482672-G-A c.586-7G>A splice_region ACTR2 62 83120 7.4591E-4 41560 1 0.00105109
2-65482684-T-C p.Leu197Leu synonymous ACTR2 2 83180 2.40442E-5 41590 0 NA
2-65482699-C-T p.Tyr202Tyr synonymous ACTR2 2 83220 2.40327E-5 41610 0 3.18753E-5
2-65482705-C-T p.Phe204Phe synonymous ACTR2 2 83260 2.40211E-5 41630 0 6.36983E-5
2-65482711-C-T p.His206His synonymous ACTR2 4 83258 4.80434E-5 41629 0 NA
2-65482729-G-A p.Thr212Thr synonymous ACTR2 168 83250 0.00201802 41625 1 0.00503525
2-65482735-C-T p.Arg214Arg synonymous ACTR2 1 83264 1.201E-5 41632 0 NA
2-65482739-A-AG p.Ile216fs frameshift ACTR2 1 83274 1.20085E-5 41637 0 NA
2-65482740-T-TAC p.Lys217fs frameshift ACTR2 1 83270 1.20091E-5 41635 0 NA
2-65482750-A-G p.Lys219Lys synonymous ACTR2 1 83276 1.20083E-5 41638 0 NA
2-65482751-C-T p.Leu220Leu synonymous ACTR2 1 83276 1.20083E-5 41638 0 NA
2-65482753-G-A p.Leu220Leu synonymous ACTR2 1 83276 1.20083E-5 41638 0 4.77426E-5
2-65482759-C-T p.Tyr222Tyr synonymous ACTR2 10 83274 1.20086E-4 41637 0 1.07114E-4
2-65482783-G-A p.Glu230Glu synonymous ACTR2 1 83248 1.20123E-5 41624 0 5.03525E-4
2-65482796-T-G p.Leu235Val missense ACTR2 1 83240 1.20135E-5 41620 0 NA
2-65482798-A-G p.Leu235Leu synonymous ACTR2 1 83230 1.20149E-5 41615 0 NA
2-65482807-A-G p.Thr238Thr synonymous ACTR2 1 83230 1.20149E-5 41615 0 NA
2-65482816-T-C p.Val241Val synonymous ACTR2 4 83218 4.80665E-5 41609 0 1.91083E-4
2-65488378-T-C c.736-3T>C splice_region ACTR2 3 83232 3.60438E-5 41616 0 3.18532E-5
2-65488393-C-T p.Arg250Cys missense ACTR2 1 83304 1.20042E-5 41652 0 NA
2-65488424-A-T p.Glu260Val missense ACTR2 1 83320 1.20019E-5 41660 0 NA
2-65488431-A-G p.Pro262Pro synonymous ACTR2 20 83310 2.40067E-4 41655 0 NA
2-65488449-T-C p.Pro268Pro synonymous ACTR2 1 83300 1.20048E-5 41650 0 NA
2-65488460-A-G p.Asn272Ser missense ACTR2 1 83290 1.20062E-5 41645 0 3.97776E-6
2-65488463-T-G p.Val273Gly missense ACTR2 1 83282 1.20074E-5 41641 0 NA
2-65488474-G-A p.Gly277Ser missense ACTR2 1 83278 1.2008E-5 41639 0 NA
2-65488489-C-G p.Leu282Val missense ACTR2 1 83264 1.201E-5 41632 0 NA
2-65488491-T-A p.Leu282Leu synonymous ACTR2 3 83254 3.60343E-5 41627 0 NA
2-65488526-GGTAC-G c.881+1_881+4delGTAC splice_donor ACTR2 2 83106 2.40657E-5 41553 0 NA
2-65488526-G-GATCT c.881_881+1insATCT splice_donor ACTR2 1 83106 1.20328E-5 41553 0 NA
2-65488527-G-GAATTC c.881+1_881+2insAATTC splice_donor ACTR2 1 83090 1.20351E-5 41545 0 NA
2-65488530-C-T c.881+4C>T splice_region ACTR2 1 83056 1.20401E-5 41528 0 3.18532E-5
2-65488533-T-C c.881+7T>C splice_region ACTR2 1 83030 1.20438E-5 41515 0 NA
2-65488534-A-T c.881+8A>T splice_region ACTR2 1 83028 1.20441E-5 41514 0 NA
2-65492179-C-G p.Ser295Cys missense+splice_region ACTR2 1 83286 1.20068E-5 41643 0 NA
2-65492209-G-T p.Gly305Val missense ACTR2 1 83352 1.19973E-5 41676 0 NA
2-65492237-A-G p.Pro314Pro synonymous ACTR2 1 83378 1.19936E-5 41689 0 NA
2-65492243-G-T p.Arg316Arg synonymous ACTR2 4 83370 4.79789E-5 41685 0 6.36821E-5
2-65492255-A-G p.Glu320Glu synonymous ACTR2 1 83384 1.19927E-5 41692 0 NA
2-65492290-G-A p.Gly332Asp missense ACTR2 3 83352 3.59919E-5 41676 0 NA
2-65492299-A-G p.Glu335Gly missense ACTR2 1 83334 1.19999E-5 41667 0 0.00100705
2-65492304-C-G p.Leu337Val missense ACTR2 1 83328 1.20008E-5 41664 0 3.97712E-6
2-65492328-A-G p.Thr290Ala missense ACTR2 509 83206 0.00611735 41603 3 0.0116212
2-65492331-A-G p.Ile291Val missense ACTR2 2 83200 2.40385E-5 41600 0 3.98092E-6
2-65492331-A-C p.Ile291Leu missense ACTR2 1 83200 1.20192E-5 41600 0 3.1837E-5
2-65492332-T-C p.Ile291Thr missense ACTR2 1 83194 1.20201E-5 41597 0 NA
2-65492340-A-G p.Ile294Val missense ACTR2 511 83044 0.00615336 41522 5 0.0125127
2-65492343-C-T p.Leu295Phe missense ACTR2 1 83014 1.20462E-5 41507 0 NA
2-65492354-C-CTA p.Thr300fs frameshift ACTR2 3 82694 3.62783E-5 41347 0 8.3478E-6
2-65492356-A-G p.Tyr299Cys missense ACTR2 1 82674 1.20957E-5 41337 0 3.99792E-6
2-65495691-C-G c.1015-7C>G splice_region ACTR2 1 83012 1.20465E-5 41506 0 1.62422E-5
2-65495691-C-T c.1015-7C>T splice_region ACTR2 1 83012 1.20465E-5 41506 0 NA
2-65495695-T-C c.1015-3T>C splice_region ACTR2 43 83030 5.17885E-4 41515 0 7.32531E-4
2-65495699-A-T p.Lys339Ile missense+splice_region ACTR2 1 83062 1.20392E-5 41531 0 NA
2-65495728-C-T p.Arg349Cys missense ACTR2 1 83174 1.2023E-5 41587 0 NA
2-65495748-C-T p.Phe355Phe synonymous ACTR2 1 83178 1.20224E-5 41589 0 8.24402E-6
2-65495757-T-A p.Gly358Gly synonymous ACTR2 1 83136 1.20285E-5 41568 0 NA
2-65495769-G-A p.Ala362Ala synonymous ACTR2 1 83028 1.20441E-5 41514 0 1.64807E-5
2-65495790-C-T p.Asp369Asp synonymous ACTR2 1 82822 1.20741E-5 41411 0 NA
2-65495807-G-A p.Arg375Gln missense ACTR2 5 82574 6.05517E-5 41287 0 6.37267E-5
2-65495833-C-T p.Arg384Cys missense ACTR2 2 82184 2.43356E-5 41092 0 2.38947E-5
2-65495850-T-C p.Leu389Leu synonymous ACTR2 1 82022 1.21919E-5 41011 0 3.99272E-6
2-65495865-A-G p.Arg394Arg synonymous ACTR2 1 81962 1.22008E-5 40981 0 NA