Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-236849777-C-T c.-197C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 28558 3.50165E-5 14279 0 2.54582E-4
1-236849782-G-T c.-192G>T 5_prime_UTR_premature_start_codon_gain ACTN2 6 30514 1.96631E-4 15257 0 NA
1-236849792-C-T c.-182C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 36968 2.70504E-5 18484 0 NA
1-236849792-C-G c.-182C>G 5_prime_UTR_premature_start_codon_gain ACTN2 1 36968 2.70504E-5 18484 0 3.53033E-5
1-236849803-C-T c.-171C>T 5_prime_UTR_premature_start_codon_gain ACTN2 2 42492 4.70677E-5 21246 0 6.91181E-5
1-236849886-C-T c.-88C>T 5_prime_UTR_premature_start_codon_gain ACTN2 4 67360 5.93824E-5 33680 0 3.27933E-5
1-236849971-G-GC p.Met1fs frameshift ACTN2 2 78816 2.53756E-5 39408 0 NA
1-236849991-C-T p.Pro6Pro synonymous ACTN2 14 79136 1.76911E-4 39568 0 9.34437E-5
1-236849991-C-A p.Pro6Pro synonymous ACTN2 10 79138 1.26362E-4 39569 0 5.60662E-4
1-236849994-C-T p.Gly7Gly synonymous ACTN2 1 79118 1.26393E-5 39559 0 4.59834E-6
1-236849995-G-A p.Val8Met missense ACTN2 1 79134 1.26368E-5 39567 0 1.18819E-4
1-236849999-A-G p.Gln9Arg missense ACTN2 64 79174 8.08346E-4 39587 0 7.76749E-4
1-236850003-C-T p.Tyr10Tyr synonymous ACTN2 1 79238 1.26202E-5 39619 0 NA
1-236850009-C-T p.Tyr12Tyr synonymous ACTN2 1 79230 1.26215E-5 39615 0 NA
1-236850016-G-A p.Asp15Asn missense ACTN2 2 79260 2.52334E-5 39630 0 NA
1-236850021-G-A p.Glu16Glu synonymous ACTN2 2 79258 2.5234E-5 39629 0 9.68867E-5
1-236850027-G-C p.Glu18Asp missense ACTN2 2 79244 2.52385E-5 39622 0 4.25677E-5
1-236850031-A-G p.Met20Val missense ACTN2 2 79194 2.52544E-5 39597 0 NA
1-236850032-T-C p.Met20Thr missense ACTN2 2 79188 2.52564E-5 39594 0 8.52995E-6
1-236850039-G-A p.Gln22Gln synonymous ACTN2 3 79062 3.79449E-5 39531 0 9.28893E-6
1-236850055-C-A p.Arg28Ser missense ACTN2 1 78704 1.27058E-5 39352 0 NA
1-236881155-C-A c.127-3C>A splice_region ACTN2 2 83344 2.39969E-5 41672 0 3.38857E-5
1-236881185-C-T p.Leu52Leu synonymous ACTN2 2 83384 2.39854E-5 41692 0 6.25E-4
1-236881196-C-T p.Ala55Ala synonymous ACTN2 2 83386 2.39848E-5 41693 0 1.90587E-4
1-236881202-C-T p.Thr57Thr synonymous ACTN2 1 83388 1.19921E-5 41694 0 NA
1-236881217-C-T p.Ile62Ile synonymous ACTN2 8 83380 9.59463E-5 41690 0 6.36983E-5
1-236881248-A-G p.Met73Val missense ACTN2 1 83350 1.19976E-5 41675 0 3.97978E-6
1-236881276-G-A c.241+4G>A splice_region ACTN2 3 83286 3.60205E-5 41643 0 2.59202E-4
1-236882188-C-T c.242-6C>T splice_region ACTN2 1 83302 1.20045E-5 41651 0 3.18573E-5
1-236882191-C-T c.242-3C>T splice_region ACTN2 2 83296 2.40108E-5 41648 0 8.2375E-6
1-236882205-C-T p.Pro85Ser missense ACTN2 1 83302 1.20045E-5 41651 0 NA
1-236882230-G-A p.Arg93Gln missense ACTN2 2 83314 2.40056E-5 41657 0 1.27429E-4
1-236882283-G-A p.Gly111Arg missense ACTN2 12 83298 1.44061E-4 41649 0 6.36983E-5
1-236882284-G-C p.Gly111Ala missense ACTN2 1 83292 1.2006E-5 41646 0 NA
1-236882303-T-C p.Ile117Ile synonymous ACTN2 81392 81636 0.997011 40818 40576 0.999375
1-236882304-G-A p.Gly118Ser missense ACTN2 2 83248 2.40246E-5 41624 0 NA
1-236882306-C-T p.Gly118Gly synonymous ACTN2 8 83230 9.61192E-5 41615 0 5.96649E-5
1-236882320-G-GGT c.361+7_361+8insGT splice_region ACTN2 1 83140 1.20279E-5 41570 0 NA
1-236883397-A-C c.362-8A>C splice_region ACTN2 3 82956 3.61638E-5 41478 0 1.6491E-5
1-236883418-C-A p.Gly125Gly synonymous ACTN2 2 83084 2.4072E-5 41542 0 NA
1-236883421-C-T p.Asn126Asn synonymous ACTN2 79549 82726 0.961596 41363 38407 0.990625
1-236883444-T-C p.Ile134Thr missense ACTN2 1 83144 1.20273E-5 41572 0 3.1837E-5
1-236883462-G-A p.Arg140His missense ACTN2 3 83130 3.60881E-5 41565 0 3.29527E-5
1-236883482-T-C p.Ser147Pro missense ACTN2 1 83096 1.20343E-5 41548 0 NA
1-236883484-G-A p.Ser147Ser synonymous ACTN2 25 83078 3.00922E-4 41539 0 9.87198E-4
1-236889226-A-G c.449-7A>G splice_region ACTN2 1 83160 1.2025E-5 41580 0 3.97671E-6
1-236889258-G-A p.Leu158Leu synonymous ACTN2 1 83248 1.20123E-5 41624 0 3.97678E-6
1-236889288-T-C p.Tyr168Tyr synonymous ACTN2 3 83248 3.60369E-5 41624 0 8.23655E-6
1-236889301-A-G p.Ile173Val missense ACTN2 1 83220 1.20163E-5 41610 0 6.25E-4
1-236889326-C-G c.536+6C>G splice_region ACTN2 2 83078 2.40738E-5 41539 0 1.9888E-5
1-236890972-G-C c.537-6G>C splice_region ACTN2 2 83260 2.40211E-5 41630 0 NA
1-236890974-G-A c.537-4G>A splice_region ACTN2 2 83280 2.40154E-5 41640 0 3.18532E-5
1-236890982-A-G p.Lys181Glu missense ACTN2 1 83286 1.20068E-5 41643 0 8.23723E-6
1-236890987-T-C p.Asp182Asp synonymous ACTN2 16 83296 1.92086E-4 41648 2 0.001115
1-236890997-C-T p.Leu186Phe missense ACTN2 2 83322 2.40033E-5 41661 0 8.2371E-5
1-236890997-C-G p.Leu186Val missense ACTN2 1 83322 1.20016E-5 41661 0 8.2371E-6
1-236891011-C-A p.Ile190Ile synonymous ACTN2 1 83328 1.20008E-5 41664 0 3.1839E-5
1-236891011-C-T p.Ile190Ile synonymous ACTN2 1 83328 1.20008E-5 41664 0 NA
1-236891016-G-A p.Arg192Gln missense ACTN2 5 83330 6.00024E-5 41665 0 4.94234E-5
1-236891022-G-A p.Arg194Gln missense ACTN2 1 83312 1.20031E-5 41656 0 6.25E-4
1-236891023-G-T p.Arg194Arg synonymous ACTN2 1 83328 1.20008E-5 41664 0 8.23723E-6
1-236891025-C-T p.Pro195Leu missense ACTN2 3 83326 3.60032E-5 41663 0 8.23737E-6
1-236891045-A-C p.Lys202Gln missense ACTN2 1 83260 1.20106E-5 41630 0 NA
1-236894530-C-T c.616-3C>T splice_region ACTN2 2 83142 2.40552E-5 41571 0 3.9794E-5
1-236894533-G-A p.Asp206Asn missense+splice_region ACTN2 2 83172 2.40466E-5 41586 0 NA
1-236894539-C-A p.Pro208Thr missense ACTN2 1 83198 1.20195E-5 41599 0 NA
1-236894559-G-A p.Leu214Leu synonymous ACTN2 2 83256 2.40223E-5 41628 0 3.1839E-5
1-236894563-A-G p.Met216Val missense ACTN2 1 83258 1.20109E-5 41629 0 2.38665E-5
1-236894571-C-T c.-577C>T 5_prime_UTR_premature_start_codon_gain ACTN2 2 83256 2.40223E-5 41628 0 3.1837E-5
1-236894584-C-T c.-564C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 83254 1.20114E-5 41627 0 8.23723E-6
1-236894591-T-C p.Ile225Thr missense ACTN2 2 83254 2.40229E-5 41627 0 NA
1-236894603-T-G p.Leu229Trp missense ACTN2 1 83216 1.20169E-5 41608 0 8.23764E-6
1-236894607-T-A p.Asp230Glu missense ACTN2 11 83218 1.32183E-4 41609 0 1.15371E-4
1-236897737-A-C p.Leu234Phe missense ACTN2 1 76412 1.30869E-5 38206 0 NA
1-236897742-A-G p.Tyr236Cys missense ACTN2 1 76420 1.30856E-5 38210 0 NA
1-236897755-C-T c.-511C>T 5_prime_UTR_premature_start_codon_gain ACTN2 6 76422 7.85114E-5 38211 0 8.31255E-5
1-236897756-G-A p.Asp241Asn missense ACTN2 1 76430 1.30839E-5 38215 0 6.25E-4
1-236897793-A-G p.Tyr253Cys missense ACTN2 1 76432 1.30835E-5 38216 0 NA
1-236897823-G-A n.930+5G>A splice_region ACTN2 1 76300 1.31062E-5 38150 0 NA
1-236898931-T-C c.698-4T>C splice_region ACTN2 1 83042 1.20421E-5 41521 0 NA
1-236898940-G-A p.Val235Met missense ACTN2 2 83156 2.40512E-5 41578 0 1.65374E-5
1-236898942-G-C p.Val235Val synonymous ACTN2 283 83180 0.00340226 41590 12 0.0152762
1-236898957-C-T p.Pro240Pro synonymous ACTN2 3 83250 3.6036E-5 41625 0 4.12991E-5
1-236898978-G-A p.Thr247Thr synonymous ACTN2 2 83284 2.40142E-5 41642 0 1.65082E-5
1-236898981-C-T p.Tyr248Tyr synonymous ACTN2 2 83286 2.40136E-5 41643 0 8.25382E-6
1-236898999-C-T p.His254His synonymous ACTN2 1 83268 1.20094E-5 41634 0 2.3861E-5
1-236899000-G-A p.Ala255Thr missense ACTN2 2 83276 2.40165E-5 41638 0 3.9769E-6
1-236899013-C-T p.Ala259Val missense ACTN2 1 83178 1.20224E-5 41589 0 3.18451E-5
1-236899014-G-A p.Ala259Ala synonymous ACTN2 2 83164 2.40489E-5 41582 0 3.32419E-5
1-236900418-A-G c.784-4A>G splice_region ACTN2 1 82660 1.20978E-5 41330 0 3.98032E-6
1-236900424-C-T c.-445C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 82780 1.20802E-5 41390 0 3.24296E-5
1-236900433-G-A p.Ala265Ala synonymous ACTN2 1 82968 1.20528E-5 41484 0 9.73268E-5
1-236900508-G-A p.Ala290Ala synonymous ACTN2 232 83114 0.00279135 41557 2 0.00498679
1-236902594-C-G c.877-8C>G splice_region ACTN2 53823 72000 0.747542 36000 20016 0.785407
1-236902594-CGG-GGA c.877-8_877-6delCGGinsGGA splice_region ACTN2 5 82622 6.05166E-5 41311 0 NA
1-236902596-G-A c.877-6G>A splice_region ACTN2 19 82658 2.29863E-4 41329 0 8.93883E-4
1-236902614-A-G p.Ile297Val missense ACTN2 1 82958 1.20543E-5 41479 0 NA
1-236902618-G-A p.Arg298His missense ACTN2 69 82968 8.31646E-4 41484 0 0.001875
1-236902620-C-T p.Arg299Cys missense ACTN2 1 83046 1.20415E-5 41523 0 3.19448E-5
1-236902624-C-T p.Thr300Met missense ACTN2 7 83096 8.42399E-5 41548 0 9.57365E-5
1-236902624-C-G p.Thr300Arg missense ACTN2 2 83096 2.40685E-5 41548 0 NA
1-236902643-C-T p.Asn306Asn synonymous ACTN2 3 83176 3.60681E-5 41588 0 1.07079E-4
1-236902645-G-A p.Arg307Gln missense ACTN2 2 83198 2.4039E-5 41599 0 6.38203E-5
1-236902651-C-T p.Pro309Leu missense ACTN2 4 83208 4.80723E-5 41604 0 6.37592E-5
1-236902652-C-T p.Pro309Pro synonymous ACTN2 19 83206 2.28349E-4 41603 0 4.78408E-4
1-236902652-C-A p.Pro309Pro synonymous ACTN2 1 83208 1.20181E-5 41604 0 3.97684E-6
1-236902653-G-A p.Glu310Lys missense ACTN2 1 83204 1.20187E-5 41602 0 NA
1-236902661-C-G p.Thr312Thr synonymous ACTN2 3 83234 3.6043E-5 41617 0 3.18776E-5
1-236902662-A-T p.Met313Leu missense ACTN2 1 83252 1.20117E-5 41626 0 2.78357E-5
1-236902672-T-C p.Met316Thr missense ACTN2 1 83276 1.20083E-5 41638 0 1.59602E-4
1-236902675-A-C p.Gln317Pro missense ACTN2 1 83286 1.20068E-5 41643 0 NA
1-236902694-C-T p.Phe323Phe synonymous ACTN2 5 83288 6.00327E-5 41644 0 3.18112E-5
1-236902708-G-A p.Arg328Gln missense ACTN2 2 83326 2.40021E-5 41663 0 5.03525E-4
1-236902714-A-T p.His330Leu missense ACTN2 2 83336 2.39992E-5 41668 0 NA
1-236902727-G-C p.Lys334Asn missense ACTN2 1 83350 1.19976E-5 41675 0 NA
1-236902730-G-A p.Val335Val synonymous ACTN2 4 83354 4.79881E-5 41677 0 3.97649E-6
1-236902736-G-A p.Glu337Glu synonymous ACTN2 1 83350 1.19976E-5 41675 0 NA
1-236902756-A-G p.Asn344Ser missense ACTN2 2 83346 2.39964E-5 41673 0 3.97659E-6
1-236902765-C-T p.Thr347Met missense ACTN2 5 83264 6.005E-5 41632 0 1.48299E-4
1-236902765-C-A p.Thr347Lys missense ACTN2 1 83264 1.201E-5 41632 0 NA
1-236902771-A-T p.Gln349Leu missense ACTN2 2 83222 2.40321E-5 41611 0 3.18532E-5
1-236902772-G-A p.Gln349Gln synonymous ACTN2 1 83220 1.20163E-5 41610 0 NA
1-236902780-T-A p.Leu352Gln missense ACTN2 1 83142 1.20276E-5 41571 0 7.95513E-6
1-236902782-C-T p.Arg353Trp missense ACTN2 1 83114 1.20317E-5 41557 0 1.64883E-5
1-236902783-G-A p.Arg353Gln missense ACTN2 2 83130 2.40587E-5 41565 0 3.18715E-5
1-236902806-A-G p.Met361Val missense ACTN2 1 82888 1.20645E-5 41444 0 3.31752E-5
1-236902814-C-T p.Ser363Ser synonymous ACTN2 7 82632 8.47129E-5 41316 0 7.17583E-5
1-236902814-C-A p.Ser363Ser synonymous ACTN2 1 82632 1.21018E-5 41316 0 NA
1-236902815-G-A p.Glu364Lys missense ACTN2 1 82594 1.21074E-5 41297 0 8.33583E-6
1-236902823-G-C p.Lys366Asn missense ACTN2 1 82568 1.21112E-5 41284 0 3.99081E-6
1-236902830-T-C p.Ser369Pro missense+splice_region ACTN2 1 82508 1.212E-5 41254 0 NA
1-236902831-C-T p.Ser369Leu missense+splice_region ACTN2 8 82488 9.69838E-5 41244 0 1.59205E-4
1-236902832-G-A p.Ser369Ser splice_region+synonymous ACTN2 8 82464 9.7012E-5 41232 0 5.29661E-4
1-236906191-C-T c.1108-5C>T splice_region ACTN2 5 83354 5.99851E-5 41677 0 4.11868E-5
1-236906193-C-A c.1108-3C>A splice_region ACTN2 2 83364 2.39912E-5 41682 0 NA
1-236906223-G-A p.Glu379Lys missense ACTN2 1 83374 1.19941E-5 41687 0 NA
1-236906227-A-G p.Gln380Arg missense ACTN2 1 83366 1.19953E-5 41683 0 NA
1-236906243-C-T c.-364C>T 5_prime_UTR_premature_start_codon_gain ACTN2 3 83352 3.59919E-5 41676 0 8.2371E-5
1-236906248-A-G p.Glu387Gly missense ACTN2 1 83354 1.1997E-5 41677 0 NA
1-236906249-G-A c.-358G>A 5_prime_UTR_premature_start_codon_gain ACTN2 1 83360 1.19962E-5 41680 0 3.97636E-6
1-236906250-T-A p.Trp388Arg missense ACTN2 2 83360 2.39923E-5 41680 0 7.15757E-5
1-236906268-C-T p.Arg394Trp missense ACTN2 2 83348 2.39958E-5 41674 0 5.03525E-4
1-236906269-G-A p.Arg394Gln missense ACTN2 3 83350 3.59928E-5 41675 0 1.19306E-5
1-236906280-C-T p.Arg398Cys missense ACTN2 9 83316 1.08022E-4 41658 0 9.56084E-5
1-236906280-C-A p.Arg398Ser missense ACTN2 1 83316 1.20025E-5 41658 0 NA
1-236906281-G-A p.Arg398His missense ACTN2 1 83314 1.20028E-5 41657 0 2.47137E-5
1-236906298-GAG-AAA p.Glu404Lys missense ACTN2 1 83294 1.20057E-5 41647 0 NA
1-236906316-G-T p.Ala410Ser missense ACTN2 1 83270 1.20091E-5 41635 0 3.97671E-6
1-236906323-C-T p.Thr412Met missense ACTN2 19 83276 2.28157E-4 41638 0 0.00654582
1-236906327-C-T c.-280C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 83252 1.20117E-5 41626 0 NA
1-236906333-T-G p.Thr415Thr synonymous ACTN2 1 83228 1.20152E-5 41614 0 2.47455E-5
1-236906334-T-G p.Trp416Gly missense ACTN2 1 83222 1.20161E-5 41611 0 NA
1-236906342-T-C p.Tyr418Tyr splice_region+synonymous ACTN2 2 83228 2.40304E-5 41614 0 NA
1-236906344-G-C c.1255+1G>C splice_donor ACTN2 1 83216 1.20169E-5 41608 0 3.97833E-6
1-236906347-A-C c.1255+4A>C splice_region ACTN2 1 83192 1.20204E-5 41596 0 NA
1-236907918-C-T c.1256-8C>T splice_region ACTN2 5 82716 6.04478E-5 41358 0 3.1835E-5
1-236907933-G-A p.Glu421Glu synonymous ACTN2 1 82790 1.20788E-5 41395 0 3.1839E-5
1-236907939-C-G p.Ile423Met missense ACTN2 1 82800 1.20773E-5 41400 0 NA
1-236907942-G-A p.Leu424Leu synonymous ACTN2 2 82834 2.41447E-5 41417 0 NA
1-236907954-T-C p.Asp428Asp synonymous ACTN2 1 82856 1.20691E-5 41428 0 7.95779E-6
1-236907957-C-T c.-232C>T 5_prime_UTR_premature_start_codon_gain ACTN2 2 82828 2.41464E-5 41414 0 6.36943E-5
1-236907958-G-A p.Glu430Lys missense ACTN2 1 82802 1.2077E-5 41401 0 8.29229E-6
1-236907958-G-C p.Glu430Gln missense ACTN2 3 82802 3.6231E-5 41401 0 3.1839E-5
1-236907962-C-T p.Ser431Leu missense ACTN2 10 82794 1.20782E-4 41397 0 3.56397E-4
1-236907963-G-A p.Ser431Ser synonymous ACTN2 5 82788 6.03952E-5 41394 0 2.86679E-4
1-236907964-G-T p.Ala432Ser missense ACTN2 1 82816 1.2075E-5 41408 0 NA
1-236907966-G-A p.Ala432Ala synonymous ACTN2 2025 82752 0.0244707 41376 74 0.0420382
1-236907966-GTC-ATT p.AlaSer432AlaLeu missense ACTN2 87 82814 0.00105055 41407 0 NA
1-236907968-C-T p.Ser433Leu missense ACTN2 16 82798 1.93241E-4 41399 2 0.00254745
1-236907970-C-G p.Leu434Val missense ACTN2 1 82804 1.20767E-5 41402 0 3.97886E-6
1-236907975-A-G p.Thr435Thr synonymous ACTN2 1 82832 1.20726E-5 41416 0 8.27335E-6
1-236907983-G-A p.Arg438Gln missense ACTN2 3 82760 3.62494E-5 41380 0 6.25E-4
1-236907991-C-T c.-198C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 82714 1.20899E-5 41357 0 NA
1-236907993-G-A p.Leu441Leu synonymous ACTN2 1 82680 1.20948E-5 41340 0 7.95938E-6
1-236907994-C-T p.Arg442Trp missense ACTN2 3 82700 3.62757E-5 41350 0 6.36902E-5
1-236908002-C-G p.His444Gln missense ACTN2 1 82600 1.21065E-5 41300 0 8.27075E-6
1-236908003-G-A p.Glu445Lys missense ACTN2 2 82598 2.42137E-5 41299 0 0.0020141
1-236908007-CG-GT p.Ala446Gly missense ACTN2 1 82492 1.21224E-5 41246 0 NA
1-236908008-G-A p.Ala446Ala synonymous ACTN2 5 82518 6.05928E-5 41259 0 0.00100705
1-236908011-C-T c.-178C>T 5_prime_UTR_premature_start_codon_gain ACTN2 320 82494 0.00387907 41247 1 0.00257986
1-236908012-G-C p.Glu448Gln missense ACTN2 1 82474 1.2125E-5 41237 0 8.26979E-6
1-236908018-G-A p.Asp450Asn missense ACTN2 3 82408 3.64042E-5 41204 0 2.48065E-5
1-236908028-C-T p.Ala453Val missense ACTN2 2 82268 2.43108E-5 41134 0 4.7797E-5
1-236908028-C-G p.Ala453Gly missense ACTN2 1 82268 1.21554E-5 41134 0 3.98308E-6
1-236908029-G-A p.Ala453Ala synonymous ACTN2 1 82258 1.21569E-5 41129 0 6.61616E-5
1-236908040-G-A p.Arg457His missense ACTN2 1 82156 1.2172E-5 41078 0 2.4818E-5
1-236908041-C-T p.Arg457Arg synonymous ACTN2 161 82152 0.00195978 41076 3 0.00525578
1-236908042-G-A p.Val458Met missense ACTN2 1 82166 1.21705E-5 41083 0 3.9853E-6
1-236908050-G-C p.Gln460His missense ACTN2 1 82132 1.21755E-5 41066 0 NA
1-236908053-C-T c.-136C>T 5_prime_UTR_premature_start_codon_gain ACTN2 115 82068 0.00140128 41034 0 0.00103707
1-236908065-G-A p.Ala465Ala synonymous ACTN2 1 81796 1.22255E-5 40898 0 0.0015121
1-236908084-C-T c.1406+8C>T splice_region ACTN2 41 81424 5.03537E-4 40712 1 1.96237E-4
1-236910965-A-T c.1407-2A>T splice_acceptor ACTN2 1 83254 1.20114E-5 41627 0 NA
1-236910980-C-T p.His474Tyr missense ACTN2 1 83336 1.19996E-5 41668 0 3.97848E-6
1-236910982-C-T c.-97C>T 5_prime_UTR_premature_start_codon_gain ACTN2 1 83334 1.19999E-5 41667 0 0.001875
1-236910983-G-A p.Asp475Asn missense ACTN2 192 83328 0.00230415 41664 8 0.00778117
1-236910983-G-T p.Asp475Tyr missense ACTN2 1 83332 1.20002E-5 41666 0 NA
1-236910985-C-T c.-94C>T 5_prime_UTR_premature_start_codon_gain ACTN2 3 83340 3.59971E-5 41670 0 5.03525E-4
1-236910986-G-A p.Ala476Thr missense ACTN2 55 83338 6.59963E-4 41669 0 0.00127372
1-236910986-G-T p.Ala476Ser missense ACTN2 3 83338 3.5998E-5 41669 0 7.5305E-5
1-236910986-G-C p.Ala476Pro missense ACTN2 1 83338 1.19993E-5 41669 0 NA
1-236910999-A-G p.Asn480Ser missense ACTN2 1 83364 1.19956E-5 41682 0 3.97712E-6
1-236911002-A-G p.Asp481Gly missense ACTN2 1 83366 1.19953E-5 41683 0 3.97725E-6
1-236911004-C-T p.Arg482Trp missense ACTN2 2 83362 2.39917E-5 41681 0 7.48018E-5
1-236911005-G-A p.Arg482Gln missense ACTN2 5 83362 5.99794E-5 41681 0 3.18532E-5
1-236911006-G-A c.-73G>A 5_prime_UTR_premature_start_codon_gain ACTN2 1 83368 1.1995E-5 41684 0 NA
1-236911012-G-A p.Gln484Gln synonymous ACTN2 44 83380 5.27704E-4 41690 0 5.81647E-4
1-236911012-G-C p.Gln484His missense ACTN2 8 83380 9.59463E-5 41690 0 2.65896E-4
1-236911035-G-A p.Arg492Gln missense ACTN2 1 83374 1.19941E-5 41687 0 8.39673E-6
1-236911036-A-T p.Arg492Arg synonymous ACTN2 3 83376 3.59816E-5 41688 0 1.98897E-5
1-236911044-C-T p.Thr495Met missense ACTN2 12 83370 1.43937E-4 41685 0 2.7854E-4
1-236911045-G-A p.Thr495Thr synonymous ACTN2 5 83358 5.99822E-5 41679 0 6.25E-4
1-236911054-G-C p.Gln498His missense ACTN2 1 83354 1.1997E-5 41677 0 3.1837E-5
1-236911067-G-T p.Ala503Ser missense ACTN2 2 83284 2.40142E-5 41642 0 NA
1-236912409-CTCTTTAT-C c.1516-14_1516-8delTCTTTAT splice_region ACTN2 2 83158 2.40506E-5 41579 0 NA
1-236912421-T-C c.1516-3T>C splice_region ACTN2 1 83206 1.20184E-5 41603 0 NA
1-236912427-A-G p.Met1? start_lost ACTN2 9 83232 1.08131E-4 41616 0 4.45775E-4
1-236912446-C-A p.Thr513Asn missense ACTN2 4 83252 4.80469E-5 41626 0 1.64813E-5
1-236912457-C-T p.Leu517Phe missense ACTN2 4 83258 4.80434E-5 41629 0 1.64785E-5
1-236912460-C-T p.His518Tyr missense ACTN2 1 83266 1.20097E-5 41633 0 5.56793E-5
1-236912468-G-A p.Glu520Glu synonymous ACTN2 1 83272 1.20088E-5 41636 0 NA
1-236912472-G-A p.Ala522Thr missense ACTN2 2 83266 2.40194E-5 41633 0 7.95456E-6
1-236912477-G-A p.Lys523Lys synonymous ACTN2 1 83258 1.20109E-5 41629 0 NA
1-236912479-G-C p.Arg524Thr missense ACTN2 1 83252 1.20117E-5 41626 0 NA
1-236912502-A-T p.Met532Leu missense ACTN2 2 83282 2.40148E-5 41641 0 3.18471E-5
1-236912506-A-G p.Glu533Gly missense ACTN2 1 83274 1.20085E-5 41637 0 NA
1-236912510-C-T p.Gly534Gly synonymous ACTN2 3 83272 3.60265E-5 41636 0 3.18137E-5
1-236912511-G-A p.Ala535Thr missense ACTN2 1 83276 1.20083E-5 41638 0 3.97684E-6
1-236912517-G-A p.Glu537Lys missense ACTN2 2 83284 2.40142E-5 41642 0 NA
1-236912522-T-C p.Asp538Asp synonymous ACTN2 4 83284 4.80284E-5 41642 0 2.38601E-5
1-236912532-A-G p.Met542Val missense ACTN2 1 83288 1.20065E-5 41644 0 3.29506E-5
1-236912535-T-C p.Phe543Leu missense ACTN2 1 83292 1.2006E-5 41646 0 NA
1-236912554-A-T p.Glu549Val missense ACTN2 2 83282 2.40148E-5 41641 0 3.1841E-5
1-236912570-G-T c.1656+6G>T splice_region ACTN2 1 83246 1.20126E-5 41623 0 NA
1-236914771-G-C p.Ser553Thr missense+splice_region ACTN2 1 82986 1.20502E-5 41493 0 3.18451E-5
1-236914783-C-T p.Ala557Val missense ACTN2 2 83116 2.40628E-5 41558 0 NA
1-236914784-G-A p.Ala557Ala synonymous ACTN2 1 83136 1.20285E-5 41568 0 0.00101215
1-236914791-C-T p.Gln560* stop_gained ACTN2 1 83188 1.2021E-5 41594 0 NA
1-236914806-C-T p.Leu565Leu synonymous ACTN2 6 83228 7.20911E-5 41614 0 5.06073E-4
1-236914811-C-T p.Pro566Pro synonymous ACTN2 1 83234 1.20143E-5 41617 0 6.37105E-5
1-236914812-G-A p.Glu567Lys missense ACTN2 1 83228 1.20152E-5 41614 0 NA
1-236914817-G-A p.Ala568Ala synonymous ACTN2 11 83244 1.32142E-4 41622 0 0.00202634
1-236914821-G-A p.Gly570Arg missense ACTN2 6 83218 7.20998E-5 41609 0 6.25E-4
1-236914827-C-T p.Arg572Trp missense ACTN2 7 83218 8.41164E-5 41609 0 1.91144E-4
1-236914832-G-A p.Gln573Gln synonymous ACTN2 1 83232 1.20146E-5 41616 0 8.24103E-6
1-236914836-A-C p.Ile575Leu missense ACTN2 1 83232 1.20146E-5 41616 0 NA
1-236914839-A-G p.Met576Val missense ACTN2 2 83234 2.40286E-5 41617 0 3.18593E-5
1-236914853-C-A p.Asn580Lys missense ACTN2 2 83230 2.40298E-5 41615 0 2.78379E-5
1-236914861-A-G p.Glu583Gly missense ACTN2 14 83232 1.68205E-4 41616 0 0.0010817
1-236914874-G-A p.Gln587Gln synonymous ACTN2 1 83198 1.20195E-5 41599 0 8.23778E-6
1-236914882-A-G p.Asn590Ser missense ACTN2 1 83176 1.20227E-5 41588 0 NA
1-236914886-C-G p.Ile591Met missense ACTN2 1 83154 1.20259E-5 41577 0 1.31259E-4
1-236914888-G-T p.Arg592Ile missense ACTN2 1 83126 1.20299E-5 41563 0 8.23805E-6
1-236914897-C-T p.Ser595Leu missense ACTN2 1 83064 1.20389E-5 41532 0 NA
1-236914902-A-C p.Asn597His missense ACTN2 1 83012 1.20465E-5 41506 0 7.9564E-6
1-236914906-C-T p.Pro598Leu missense ACTN2 2 82976 2.41034E-5 41488 0 1.59152E-5
1-236914907-G-A p.Pro598Pro synonymous ACTN2 7 82962 8.4376E-5 41481 0 7.55948E-5
1-236914907-G-C p.Pro598Pro synonymous ACTN2 2 82962 2.41074E-5 41481 0 8.2375E-6
1-236914912-G-A p.Ser600Asn missense ACTN2 2 82898 2.4126E-5 41449 0 7.95805E-6
1-236914923-A-G p.Met604Val missense ACTN2 727 82762 0.00878422 41381 17 0.0164692
1-236914925-G-A p.Met604Ile missense ACTN2 2 82752 2.41686E-5 41376 0 1.6475E-5
1-236914935-C-T p.Arg608Trp missense ACTN2 5 82670 6.04814E-5 41335 0 3.18512E-5
1-236914936-G-A p.Arg608Gln missense ACTN2 2 82642 2.42008E-5 41321 0 7.41424E-5
1-236914938-A-C p.Thr609Pro missense ACTN2 1 82598 1.21068E-5 41299 0 3.29527E-5
1-236914946-G-A p.Trp611* stop_gained ACTN2 1 82524 1.21177E-5 41262 0 NA
1-236914957-G-C c.1839+5G>C splice_region ACTN2 1 82428 1.21318E-5 41214 0 NA
1-236917259-G-A p.Val618Met missense ACTN2 2 83100 2.40674E-5 41550 0 7.95494E-6
1-236917262-C-T p.Pro619Ser missense ACTN2 1 83108 1.20325E-5 41554 0 NA
1-236917269-G-A p.Arg621His missense ACTN2 4 83124 4.81209E-5 41562 0 3.1819E-5
1-236917270-C-T p.Arg621Arg synonymous ACTN2 1 83134 1.20288E-5 41567 0 3.97716E-6
1-236917271-G-A p.Asp622Asn missense ACTN2 39 83138 4.691E-4 41569 1 0.00125
1-236917285-G-A p.Gln626Gln synonymous ACTN2 2 83132 2.40581E-5 41566 0 NA
1-236917289-G-A p.Glu628Lys missense ACTN2 1 83116 1.20314E-5 41558 0 NA
1-236917295-G-A p.Ala630Thr missense ACTN2 1 83040 1.20424E-5 41520 0 3.18451E-5
1-236917297-T-C p.Ala630Ala synonymous ACTN2 1 83050 1.20409E-5 41525 0 NA
1-236917299-G-A p.Arg631His missense ACTN2 4 82974 4.82079E-5 41487 0 6.60677E-5
1-236917300-C-A p.Arg631Arg synonymous ACTN2 1 83004 1.20476E-5 41502 0 NA
1-236917305-A-G p.His633Arg missense ACTN2 1 82992 1.20494E-5 41496 0 NA
1-236917306-T-G p.His633Gln missense ACTN2 3 82988 3.61498E-5 41494 0 6.3678E-5
1-236917312-C-T p.Asn635Asn synonymous ACTN2 1 82946 1.2056E-5 41473 0 1.19397E-5
1-236917314-A-G p.Glu636Gly missense ACTN2 2 82960 2.4108E-5 41480 0 NA
1-236917316-C-T p.Arg637Cys missense ACTN2 2 82928 2.41173E-5 41464 0 4.13483E-5
1-236917316-C-A p.Arg637Ser missense ACTN2 1 82928 1.20587E-5 41464 0 NA
1-236917317-G-A p.Arg637His missense ACTN2 3 82922 3.61786E-5 41461 0 7.96033E-6
1-236917325-C-T p.Arg640Cys missense ACTN2 6 82856 7.24148E-5 41428 0 6.37064E-5
1-236917325-C-G p.Arg640Gly missense ACTN2 2 82858 2.41377E-5 41429 0 6.25E-4
1-236917326-G-A p.Arg640His missense ACTN2 1 82830 1.20729E-5 41415 0 8.27472E-6
1-236917333-T-C p.Phe642Phe synonymous ACTN2 1 82856 1.20691E-5 41428 0 3.98162E-6
1-236917337-G-A p.Ala644Thr missense ACTN2 18 82758 2.17502E-4 41379 0 2.31972E-4
1-236917339-C-A p.Ala644Ala synonymous ACTN2 89 82826 0.00107454 41413 0 0.00267499
1-236917345-C-T p.Ala646Ala synonymous ACTN2 3 82868 3.62022E-5 41434 0 1.19401E-5
1-236917352-A-G p.Ile649Val missense ACTN2 1 82774 1.20811E-5 41387 0 2.48488E-5
1-236917359-C-T p.Pro651Leu missense ACTN2 1 82694 1.20928E-5 41347 0 1.19452E-5
1-236918311-C-T c.1975-8C>T splice_region ACTN2 2 82914 2.41214E-5 41457 0 8.23805E-6
1-236918312-C-A c.1975-7C>A splice_region ACTN2 1 82944 1.20563E-5 41472 0 8.23805E-6
1-236918313-C-G c.1975-6C>G splice_region ACTN2 13 82948 1.56725E-4 41474 1 0.00563204
1-236918313-C-A c.1975-6C>A splice_region ACTN2 2 82948 2.41115E-5 41474 0 8.23832E-6
1-236918313-C-T c.1975-6C>T splice_region ACTN2 1 82948 1.20557E-5 41474 0 7.41449E-5
1-236918314-C-G c.1975-5C>G splice_region ACTN2 1 82942 1.20566E-5 41471 0 1.64761E-5
1-236918324-T-A p.Ile660Ile synonymous ACTN2 1 82964 1.20534E-5 41482 0 1.98834E-5
1-236918327-C-T p.Ala661Ala synonymous ACTN2 14 82994 1.68687E-4 41497 0 0.00100705
1-236918328-C-G p.Arg662Gly missense ACTN2 3 83008 3.61411E-5 41504 0 3.18552E-5
1-236918336-CATCCAG-C p.Gln666_Ile667del conservative_inframe_deletion ACTN2 1 82980 1.20511E-5 41490 0 7.95311E-6
1-236918343-A-C p.Ile667Leu missense ACTN2 1 82964 1.20534E-5 41482 0 NA
1-236918347-C-G p.Thr668Arg missense ACTN2 3 82998 3.61454E-5 41499 0 5.16952E-5
1-236918368-T-C p.Met675Thr missense ACTN2 2 82920 2.41196E-5 41460 0 3.18573E-5
1-236918379-A-C p.Lys679Gln missense ACTN2 1 82850 1.207E-5 41425 0 3.18552E-5
1-236918380-A-G p.Lys679Arg missense ACTN2 4 82860 4.82742E-5 41430 0 2.47137E-5
1-236918383-A-G p.Gln680Arg missense ACTN2 1 82842 1.20712E-5 41421 0 2.47137E-5
1-236918390-G-A p.Glu682Glu synonymous ACTN2 1 82756 1.20837E-5 41378 0 NA
1-236918395-ACAT-A p.Ile686del disruptive_inframe_deletion ACTN2 1 82738 1.20863E-5 41369 0 8.23886E-6
1-236918395-A-T p.Asn684Ile missense ACTN2 2 82738 2.41727E-5 41369 0 3.97652E-6
1-236918396-C-T p.Asn684Asn synonymous ACTN2 14 82722 1.69242E-4 41361 0 1.07366E-4
1-236918398-T-C p.Ile685Thr missense ACTN2 2 82722 2.41774E-5 41361 0 3.97652E-6
1-236918400-A-G p.Ile686Val missense ACTN2 1 82730 1.20875E-5 41365 0 3.97655E-6
1-236918413-A-G p.Asn690Ser missense ACTN2 1 82680 1.20948E-5 41340 0 3.18573E-5
1-236918418-A-G p.Ile692Val missense ACTN2 1 82632 1.21018E-5 41316 0 1.64826E-5
1-236918420-C-T p.Ile692Ile synonymous ACTN2 19 82596 2.30035E-4 41298 0 8.60366E-4
1-236918426-G-C p.Lys694Asn missense ACTN2 4 82546 4.84578E-5 41273 0 5.03525E-4
1-236918452-A-T p.Gln703Leu missense ACTN2 1 82192 1.21666E-5 41096 0 6.37267E-5
1-236918465-C-G p.Val707Val synonymous ACTN2 2 81866 2.44302E-5 40933 0 NA
1-236918471-C-T p.Asp709Asp synonymous ACTN2 1 81722 1.22366E-5 40861 0 4.96418E-5
1-236918483-G-A p.Thr713Thr synonymous ACTN2 1131 81074 0.0139502 40537 46 0.0314592
1-236918491-C-T p.Thr716Met missense ACTN2 45 80548 5.58673E-4 40274 0 0.00125
1-236918492-G-A p.Thr716Thr synonymous ACTN2 8 80462 9.94258E-5 40231 0 1.278E-4
1-236918502-C-T c.2154+4C>T splice_region ACTN2 1 79376 1.25983E-5 39688 0 8.00692E-6
1-236920782-A-G c.2155-4A>G splice_region ACTN2 1 83334 1.19999E-5 41667 0 NA
1-236920790-T-C p.Ile720Thr missense ACTN2 1 83352 1.19973E-5 41676 0 NA
1-236920792-C-A p.Arg721Ser missense ACTN2 54 83348 6.47886E-4 41674 0 5.20908E-4
1-236920793-G-A p.Arg721His missense ACTN2 1 83354 1.1997E-5 41677 0 3.18695E-5
1-236920809-G-C p.Leu726Leu synonymous ACTN2 2 83372 2.39889E-5 41686 0 NA
1-236920821-C-T p.Thr730Thr synonymous ACTN2 1 83374 1.19941E-5 41687 0 8.23683E-6
1-236920825-G-A p.Ala732Thr missense ACTN2 3 83376 3.59816E-5 41688 0 4.11841E-5
1-236920857-C-G p.Ile742Met missense ACTN2 1 83396 1.1991E-5 41698 0 8.23683E-6
1-236920862-C-T p.Thr744Met missense ACTN2 5 83392 5.99578E-5 41696 1 4.94201E-5
1-236920863-G-A p.Thr744Thr synonymous ACTN2 1 83390 1.19918E-5 41695 0 7.95273E-6
1-236920866-A-G p.Arg745Arg synonymous ACTN2 8 83388 9.59371E-5 41694 0 0.001875
1-236920871-C-T p.Ala747Val missense ACTN2 2 83384 2.39854E-5 41692 0 5.03525E-4
1-236920872-G-A p.Ala747Ala synonymous ACTN2 1 83388 1.19921E-5 41694 0 3.18573E-5
1-236920893-G-A p.Gln754Gln synonymous ACTN2 3 83388 3.59764E-5 41694 0 NA
1-236920922-A-C p.His764Pro missense ACTN2 1 83380 1.19933E-5 41690 0 NA
1-236920922-A-G p.His764Arg missense ACTN2 1 83380 1.19933E-5 41690 0 NA
1-236920938-ACT-A c.2301+7_2301+8delCT splice_region ACTN2 2 83370 2.39894E-5 41685 0 NA
1-236920939-C-G c.2301+7C>G splice_region ACTN2 1 83368 1.1995E-5 41684 0 NA
1-236923045-C-T p.His775Tyr missense ACTN2 5 83380 5.99664E-5 41690 0 2.47101E-5
1-236923046-A-G p.His775Arg missense ACTN2 2 83380 2.39866E-5 41690 0 NA
1-236923078-G-A p.Gly786Ser missense ACTN2 1 83370 1.19947E-5 41685 0 7.95254E-6
1-236923094-G-A c.2367+5G>A splice_region ACTN2 13 83330 1.56006E-4 41665 0 9.55231E-5
1-236923097-A-G c.2367+8A>G splice_region ACTN2 10 83318 1.20022E-4 41659 0 2.22831E-4
1-236924307-T-G c.2368-8T>G splice_region ACTN2 1 83376 1.19939E-5 41688 0 8.23655E-6
1-236924323-C-T p.Ala792Ala synonymous ACTN2 2 83402 2.39802E-5 41701 0 3.29462E-5
1-236924324-G-A p.Glu793Lys missense ACTN2 1 83400 1.19904E-5 41700 0 3.97627E-6
1-236924334-G-A p.Arg796His missense ACTN2 1 83394 1.19913E-5 41697 0 1.59051E-5
1-236924339-A-G p.Met798Val missense ACTN2 4 83394 4.79651E-5 41697 0 3.97624E-6
1-236924347-G-A p.Leu800Leu synonymous ACTN2 1 83386 1.19924E-5 41693 0 NA
1-236924359-C-T p.Asn804Asn synonymous ACTN2 7 83382 8.3951E-5 41691 0 1.23554E-4
1-236924359-C-G p.Asn804Lys missense ACTN2 1 83382 1.1993E-5 41691 0 NA
1-236924360-G-A p.Gly805Arg missense ACTN2 2 83384 2.39854E-5 41692 0 3.29484E-5
1-236924370-C-T p.Thr808Ile missense ACTN2 4 83376 4.79754E-5 41688 0 1.59246E-4
1-236924371-C-T p.Thr808Thr synonymous ACTN2 3 83372 3.59833E-5 41686 0 3.29544E-5
1-236924372-G-A p.Val809Ile missense ACTN2 1 83368 1.1995E-5 41684 0 9.55657E-5
1-236924383-A-G p.Gln812Gln synonymous ACTN2 2 83362 2.39917E-5 41681 0 6.59185E-5
1-236924392-C-T p.Ile815Ile synonymous ACTN2 9 83346 1.07984E-4 41673 0 6.25E-4
1-236924398-C-A p.Phe817Leu missense ACTN2 1 83334 1.19999E-5 41667 0 NA
1-236924401-G-A p.Met818Ile missense ACTN2 1 83322 1.20016E-5 41661 0 NA
1-236924412-C-T p.Thr822Met missense ACTN2 1 83284 1.20071E-5 41642 0 NA
1-236924431-C-T p.Ala828Ala synonymous ACTN2 3 83236 3.60421E-5 41618 0 NA
1-236924431-C-G p.Ala828Ala synonymous ACTN2 1 83236 1.2014E-5 41618 0 8.25314E-6
1-236924443-C-T p.Ile832Ile synonymous ACTN2 1 83186 1.20213E-5 41593 0 4.13039E-5
1-236924444-G-A p.Ala833Thr missense ACTN2 4 83172 4.80931E-5 41586 0 1.07397E-4
1-236924448-C-T p.Ser834Phe missense ACTN2 1 83166 1.20241E-5 41583 0 NA
1-236924452-C-G p.Phe835Leu missense ACTN2 1 83132 1.20291E-5 41566 0 3.98045E-6
1-236924481-T-C c.2526+8T>C splice_region ACTN2 1 82694 1.20928E-5 41347 0 2.79223E-5
1-236925774-C-T p.Ala847Val missense ACTN2 4 83096 4.81371E-5 41548 0 1.59266E-4
1-236925775-G-A p.Ala847Ala synonymous ACTN2 5 83114 6.01583E-5 41557 0 5.04032E-4
1-236925785-C-T p.Arg851Cys missense ACTN2 4 83080 4.81464E-5 41540 1 1.55291E-4
1-236925786-G-A p.Arg851His missense ACTN2 7 83064 8.42724E-5 41532 0 4.95376E-5
1-236925788-C-T p.Arg852Trp missense ACTN2 1 83066 1.20386E-5 41533 0 8.256E-6
1-236925789-G-A p.Arg852Gln missense ACTN2 9 83064 1.0835E-4 41532 0 7.56659E-5
1-236925790-G-A p.Arg852Arg synonymous ACTN2 3 83064 3.61167E-5 41532 0 3.18492E-5
1-236925794-C-T p.Leu854Leu synonymous ACTN2 4 83056 4.81603E-5 41528 0 2.7876E-5
1-236925801-C-T p.Pro856Leu missense ACTN2 4 83042 4.81684E-5 41521 0 6.36983E-5
1-236925802-G-A p.Pro856Pro synonymous ACTN2 9 83010 1.08421E-4 41505 0 1.83159E-4
1-236925821-A-G p.Ile863Val missense ACTN2 3 83022 3.6135E-5 41511 0 5.03525E-4
1-236925835-C-T p.Pro867Pro synonymous ACTN2 17 83014 2.04785E-4 41507 0 5.03525E-4
1-236925836-G-A p.Ala868Thr missense ACTN2 8 83026 9.63554E-5 41513 0 6.37267E-5
1-236925843-C-T p.Ser870Leu missense ACTN2 1 83016 1.20459E-5 41508 0 3.18654E-5
1-236925844-G-A p.Ser870Ser synonymous ACTN2 12179 82782 0.147121 41391 945 0.18625
1-236925863-G-T p.Gly877Cys missense ACTN2 2 83076 2.40743E-5 41538 0 6.25E-4
1-236925865-T-C n.840T>C splice_region ACTN2 1 83074 1.20375E-5 41537 0 NA
1-236925876-A-T p.Tyr881Phe missense ACTN2 1 83074 1.20375E-5 41537 0 NA
1-236925877-C-T p.Tyr881Tyr synonymous ACTN2 2 83068 2.40767E-5 41534 0 2.49327E-5
1-236925883-G-A p.Ala883Ala synonymous ACTN2 62 83046 7.46574E-4 41523 0 7.66871E-4
1-236925892-C-T p.Ser886Ser synonymous ACTN2 1 83014 1.20462E-5 41507 0 5.03449E-5
1-236925893-G-A p.Ala887Thr missense ACTN2 18 83002 2.16862E-4 41501 0 1.43327E-4
1-236925901-C-T p.Tyr889Tyr synonymous ACTN2 3 82944 3.6169E-5 41472 0 8.50861E-6
1-236925902-G-A p.Gly890Arg missense ACTN2 2 82936 2.4115E-5 41468 0 2.55337E-5
1-236925910-C-T p.Ser892Ser synonymous ACTN2 6 82842 7.2427E-5 41421 0 6.37267E-5
1-236925911-G-A p.Asp893Asn missense ACTN2 11 82822 1.32815E-4 41411 0 5.41781E-4
1-236925912-A-G p.Asp893Gly missense ACTN2 2 82798 2.41552E-5 41399 0 5.03525E-4