Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-90694983-G-A p.Phe377Phe synonymous ACTA2 2 82934 2.41156E-5 41467 0 3.29614E-5
10-90695046-C-T p.Gln356Gln synonymous ACTA2 1 83154 1.20259E-5 41577 0 NA
10-90695058-G-A p.Ser352Ser synonymous ACTA2 1 83098 1.2034E-5 41549 0 3.98083E-6
10-90695064-A-C p.Ser350Ser synonymous ACTA2 1 83104 1.20331E-5 41552 0 NA
10-90695067-G-A p.Ala349Ala synonymous ACTA2 4 83110 4.8129E-5 41555 0 5.03525E-4
10-90695087-T-C p.Ile343Val missense ACTA2 1 83096 1.20343E-5 41548 0 NA
10-90695097-G-A p.Tyr339Tyr synonymous ACTA2 1 83068 1.20383E-5 41534 0 3.18431E-5
10-90695105-G-A p.Arg337Cys missense ACTA2 1 83012 1.20465E-5 41506 0 NA
10-90695122-A-G p.Ile331Thr missense+splice_region ACTA2 1 82924 1.20592E-5 41462 0 3.98206E-6
10-90695124-C-CT c.991-2dupA splice_acceptor ACTA2 1 82922 1.20595E-5 41461 0 NA
10-90695127-T-G c.991-4A>C splice_region ACTA2 2 82872 2.41336E-5 41436 0 8.24878E-6
10-90697835-T-C p.Ser325Gly missense ACTA2 1 82560 1.21124E-5 41280 0 1.64878E-5
10-90697844-G-A p.Leu322Leu synonymous ACTA2 1 82568 1.21112E-5 41284 0 NA
10-90697848-C-T p.Thr320Thr synonymous ACTA2 4 82582 4.84367E-5 41291 0 1.64848E-5
10-90697853-T-C p.Ile319Val missense ACTA2 1 82622 1.21033E-5 41311 0 NA
10-90697854-C-G p.Glu318Asp missense ACTA2 1 82620 1.21036E-5 41310 0 7.96921E-6
10-90697855-T-C p.Glu318Gly missense ACTA2 1 82618 1.21039E-5 41309 0 NA
10-90697857-C-T p.Lys317Lys synonymous ACTA2 2 82624 2.4206E-5 41312 0 1.64823E-5
10-90697871-C-T p.Asp313Asn missense ACTA2 3 82666 3.62906E-5 41333 0 8.23995E-6
10-90697872-G-A p.Ala312Ala synonymous ACTA2 17 82668 2.05642E-4 41334 0 1.63353E-4
10-90697890-A-G p.Thr306Thr synonymous ACTA2 1 82764 1.20825E-5 41382 0 NA
10-90697905-T-C p.Leu301Leu synonymous ACTA2 2 82788 2.41581E-5 41394 0 3.18512E-5
10-90697944-A-G p.Asp288Asp synonymous ACTA2 1 82838 1.20718E-5 41419 0 NA
10-90697962-G-A p.Asn282Asn synonymous ACTA2 5 82860 6.03427E-5 41430 0 5.7673E-5
10-90697999-C-CCGATGAAGGATGG c.809-1_809insCCATCCTTCATCG splice_acceptor ACTA2 3 82798 3.62328E-5 41399 1 NA
10-90699265-G-A p.Ile269Ile splice_region+synonymous ACTA2 2 82410 2.42689E-5 41205 0 6.25E-4
10-90699286-G-C p.Thr262Thr synonymous ACTA2 1 82610 1.21051E-5 41305 0 NA
10-90699305-C-T p.Arg256His missense ACTA2 2 82666 2.41937E-5 41333 0 NA
10-90699333-C-T p.Gly247Arg missense ACTA2 1 82752 1.20843E-5 41376 0 NA
10-90699346-G-A p.Tyr242Tyr synonymous ACTA2 1 82742 1.20858E-5 41371 0 1.99225E-5
10-90699375-C-T p.Ala233Thr missense ACTA2 2 82748 2.41698E-5 41374 0 3.18593E-5
10-90699376-G-A p.Ala232Ala synonymous ACTA2 1 82756 1.20837E-5 41378 0 8.25083E-5
10-90699384-C-T p.Ala230Thr missense ACTA2 1 82744 1.20855E-5 41372 0 3.18532E-5
10-90699388-C-T p.Glu228Glu synonymous ACTA2 1 82748 1.20849E-5 41374 0 NA
10-90699391-A-G p.Asn227Asn synonymous ACTA2 1 82758 1.20834E-5 41379 0 NA
10-90699400-G-A p.Asp224Asp synonymous ACTA2 2 82734 2.41739E-5 41367 0 1.99303E-5
10-90699406-A-G p.Ala222Ala synonymous ACTA2 1 82674 1.20957E-5 41337 0 NA
10-90699424-C-G p.Glu216Asp missense ACTA2 1 82600 1.21065E-5 41300 0 8.26856E-6
10-90699449-C-T p.Arg208His missense ACTA2 1 82444 1.21294E-5 41222 0 1.19726E-5
10-90699456-C-CAG c.617-2_617-1insCT splice_acceptor ACTA2 1 82402 1.21356E-5 41201 0 NA
10-90700981-C-G c.616+5G>C splice_region ACTA2 4 82792 4.83138E-5 41396 0 NA
10-90700990-A-G p.Thr204Thr synonymous ACTA2 2 82834 2.41447E-5 41417 0 NA
10-90700996-G-A p.Phe202Phe synonymous ACTA2 6 82842 7.2427E-5 41421 0 5.57947E-5
10-90701011-C-T p.Glu197Glu synonymous ACTA2 1 82806 1.20764E-5 41403 0 3.18471E-5
10-90701017-C-G p.Leu195Leu synonymous ACTA2 1 82810 1.20758E-5 41405 0 NA
10-90701023-C-T p.Lys193Lys synonymous ACTA2 1 82800 1.20773E-5 41400 0 8.24593E-6
10-90701032-G-A p.Tyr190Tyr synonymous ACTA2 1 82812 1.20755E-5 41406 0 7.96819E-6
10-90701050-G-A p.Gly184Gly synonymous ACTA2 1 82798 1.20776E-5 41399 0 3.18898E-5
10-90701064-G-A p.Leu180Leu synonymous ACTA2 2 82834 2.41447E-5 41417 0 3.25882E-5
10-90701069-A-G p.Met178Thr missense ACTA2 1 82828 1.20732E-5 41414 0 NA
10-90701092-G-A p.Gly170Gly synonymous ACTA2 1 82854 1.20694E-5 41427 0 3.9827E-6
10-90701125-A-G p.Asp159Asp synonymous ACTA2 2 82844 2.41418E-5 41422 0 7.41644E-5
10-90701151-G-T c.455-4C>A splice_region ACTA2 1 82710 1.20904E-5 41355 0 NA
10-90701567-A-G p.Ser143Ser synonymous ACTA2 1 82372 1.214E-5 41186 0 NA
10-90701576-C-T p.Ala140Ala synonymous ACTA2 10 82410 1.21344E-4 41205 0 0.00100705
10-90701577-G-A p.Ala140Val missense ACTA2 1 82406 1.2135E-5 41203 0 NA
10-90701579-C-T p.Gln139Gln synonymous ACTA2 113 82408 0.00137123 41204 0 0.00296178
10-90701593-A-G p.Tyr135His missense ACTA2 2 82346 2.42878E-5 41173 0 2.00655E-5
10-90701597-G-A p.Ala133Ala synonymous ACTA2 1 82318 1.2148E-5 41159 0 NA
10-90701603-G-C p.Val131Val synonymous ACTA2 1 82264 1.2156E-5 41132 0 4.02703E-6
10-90701606-A-G p.Asn130Asn synonymous ACTA2 2 82232 2.43214E-5 41116 0 3.2231E-5
10-90701613-G-T p.Thr128Asn missense ACTA2 1 82174 1.21693E-5 41087 0 NA
10-90701625-A-ATTTGAGTCATTT p.Lys120_Gln123dup conservative_inframe_insertion ACTA2 1 82074 1.21841E-5 41037 0 NA
10-90701625-A-ATTTGAG p.Thr122_Gln123dup conservative_inframe_insertion ACTA2 1 82078 1.21835E-5 41039 0 NA
10-90701630-C-T c.370-4G>A splice_region ACTA2 1 82002 1.21948E-5 41001 0 NA
10-90703547-T-C c.369+7A>G splice_region ACTA2 1 82476 1.21247E-5 41238 0 2.47803E-5
10-90703572-G-A p.Asn117Asn synonymous ACTA2 1 82662 1.20975E-5 41331 0 NA
10-90703581-G-T p.Pro114Pro synonymous ACTA2 1 82706 1.2091E-5 41353 0 NA
10-90703590-G-A p.Pro111Pro synonymous ACTA2 2 82682 2.41891E-5 41341 0 NA
10-90703614-A-G p.His103His synonymous ACTA2 1 82510 1.21197E-5 41255 0 3.98273E-6
10-90703617-C-T p.Glu102Glu synonymous ACTA2 1 82480 1.21242E-5 41240 0 NA
10-90703627-G-C p.Ala99Gly missense ACTA2 2 82382 2.42771E-5 41191 0 1.99197E-5
10-90703642-T-C p.Asn94Ser missense ACTA2 1 82278 1.21539E-5 41139 0 3.18695E-5
10-90703672-G-A c.259-8C>T splice_region ACTA2 7 81758 8.56185E-5 40879 0 3.18654E-5
10-90707027-G-A p.Asp82Asp synonymous ACTA2 1 83310 1.20034E-5 41655 0 6.37471E-5
10-90707051-T-C p.Glu74Glu synonymous ACTA2 1 83350 1.19976E-5 41675 0 8.23778E-6
10-90707057-C-T p.Pro72Pro synonymous ACTA2 4 83352 4.79893E-5 41676 0 6.25E-4
10-90707068-G-A p.Leu69Leu synonymous ACTA2 1 83362 1.19959E-5 41681 0 NA
10-90707072-C-G p.Leu67Leu synonymous ACTA2 13 83366 1.55939E-4 41683 0 1.9118E-4
10-90707098-C-T p.Glu59Lys missense ACTA2 5 83350 5.9988E-5 41675 0 NA
10-90707099-G-A p.Asp58Asp synonymous ACTA2 5 83348 5.99894E-5 41674 0 3.18796E-4
10-90707108-G-A p.Tyr55Tyr synonymous ACTA2 2 83324 2.40027E-5 41662 0 3.97953E-5
10-90707113-T-G p.Ser54Arg missense ACTA2 1 83318 1.20022E-5 41659 0 NA
10-90707134-C-T p.Val47Met missense ACTA2 2 83262 2.40206E-5 41631 0 NA
10-90707143-C-G p.Gly44Arg missense+splice_region ACTA2 1 83222 1.20161E-5 41611 0 NA
10-90707145-T-TGATGTCTGGGACGTCCCACAATGGATGGG c.130-3_130-2insCCCATCCATTGTGGGACGTCCCAGACATC splice_region ACTA2 2 83182 2.40437E-5 41591 1 NA
10-90708553-C-A c.129+6G>T splice_region ACTA2 2 82396 2.4273E-5 41198 0 NA
10-90708610-G-A p.Asp26Asp synonymous ACTA2 9 82764 1.08743E-4 41382 0 1.5659E-4
10-90708610-G-T p.Asp26Glu missense ACTA2 1 82764 1.20825E-5 41382 0 7.41742E-5
10-90708616-A-G p.Ala24Ala synonymous ACTA2 2 82818 2.41493E-5 41409 0 3.29658E-5
10-90708625-G-A p.Ala21Ala synonymous ACTA2 3 82826 3.62205E-5 41413 0 6.37511E-5
10-90708628-C-T p.Lys20Lys synonymous ACTA2 3 82810 3.62275E-5 41405 0 3.18695E-5
10-90708637-C-T p.Gly17Gly synonymous ACTA2 2 82774 2.41622E-5 41387 0 3.98333E-6
10-90708637-C-G p.Gly17Gly synonymous ACTA2 1 82774 1.20811E-5 41387 0 NA
10-90708646-A-G p.Asn14Asn synonymous ACTA2 1 82736 1.20866E-5 41368 0 NA
10-90708671-T-C p.Asp6Gly missense ACTA2 1 82490 1.21227E-5 41245 0 NA
10-90708686-A-G p.Met1? start_lost ACTA2 1 82250 1.21581E-5 41125 0 NA
10-90708713-A-G c.-23-3T>C splice_region ACTA2 1 81532 1.22651E-5 40766 0 8.29614E-6
10-90750691-C-T c.-24+5G>A splice_region ACTA2 2 83036 2.40859E-5 41518 0 8.27554E-6
10-90750697-C-T c.-25G>A splice_region ACTA2 4 82956 4.82183E-5 41478 0 1.90397E-4
10-90750698-C-T c.-26G>A splice_region ACTA2 1 82940 1.20569E-5 41470 0 NA
10-90750699-G-A c.-27C>T 5_prime_UTR_premature_start_codon_gain ACTA2 4 82934 4.82311E-5 41467 0 5.79422E-5
10-90750703-T-C c.-31A>G 5_prime_UTR_premature_start_codon_gain ACTA2 3 82864 3.62039E-5 41432 0 9.5645E-5
10-90750710-G-A c.-38C>T 5_prime_UTR_premature_start_codon_gain ACTA2 1 82680 1.20948E-5 41340 0 3.18715E-5
10-90750713-G-C c.-41C>G 5_prime_UTR_premature_start_codon_gain ACTA2 5 82576 6.05503E-5 41288 0 4.14869E-5
10-90750770-C-A c.-98G>T 5_prime_UTR_premature_start_codon_gain ACTA2 12 78216 1.53421E-4 39108 0 4.14647E-4
10-90750775-G-A c.-24+4C>T splice_region ACTA2 1 77926 1.28327E-5 38963 0 NA
10-90750780-T-A c.-108A>T 5_prime_UTR_premature_start_codon_gain ACTA2 1 77592 1.28879E-5 38796 0 NA
10-90750790-G-A c.-118C>T 5_prime_UTR_premature_start_codon_gain ACTA2 1 76146 1.31327E-5 38073 0 NA
10-90750800-G-A c.-128C>T 5_prime_UTR_premature_start_codon_gain ACTA2 1 74506 1.34217E-5 37253 0 NA
10-90750985-G-A c.-313C>T 5_prime_UTR_premature_start_codon_gain ACTA2 1 15164 6.59457E-5 7582 0 NA
10-90751103-G-A c.-431C>T 5_prime_UTR_premature_start_codon_gain ACTA2 192 6898 0.0278342 3449 5 0.036979
10-90751140-G-A c.-468C>T 5_prime_UTR_premature_start_codon_gain ACTA2 4 6296 6.35324E-4 3148 0 4.14805E-4