Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-52281749-C-T c.-222C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 5 35422 1.41155E-4 17711 0 6.3743E-5
12-52281796-C-T c.-175C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 3 58198 5.15482E-5 29099 0 NA
12-52281815-C-T c.-156C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 3 65902 4.55221E-5 32951 0 NA
12-52281819-G-T c.-152G>T 5_prime_UTR_premature_start_codon_gain ANKRD33 2 67454 2.96498E-5 33727 0 NA
12-52281861-C-G c.-110C>G 5_prime_UTR_premature_start_codon_gain ANKRD33 1 76132 1.31351E-5 38066 0 NA
12-52281862-T-C c.-109T>C 5_prime_UTR_premature_start_codon_gain ANKRD33 1 76240 1.31165E-5 38120 0 3.18817E-5
12-52281892-G-T c.-79G>T 5_prime_UTR_premature_start_codon_gain ANKRD33 22 79970 2.75103E-4 39985 0 4.14435E-4
12-52281892-G-C c.-79G>C 5_prime_UTR_premature_start_codon_gain ANKRD33 4 79970 5.00188E-5 39985 0 NA
12-52281909-A-C c.-62A>C 5_prime_UTR_premature_start_codon_gain ANKRD33 2 81566 2.452E-5 40783 0 NA
12-52281932-T-G c.-39T>G 5_prime_UTR_premature_start_codon_gain ANKRD33 5 82534 6.05811E-5 41267 0 1.21337E-5
12-52281937-C-T c.-34C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 3 82646 3.62994E-5 41323 0 NA
12-52281992-A-C p.Thr8Pro missense ANKRD33 2 83198 2.4039E-5 41599 0 1.98975E-5
12-52281997-C-G p.Cys9Trp missense ANKRD33 1 83190 1.20207E-5 41595 0 NA
12-52282009-G-T p.Trp13Cys missense ANKRD33 1 83134 1.20288E-5 41567 0 NA
12-52282016-A-G p.Ile16Val missense ANKRD33 2 83078 2.40738E-5 41539 0 2.47141E-5
12-52282018-A-G p.Ile16Met missense ANKRD33 1 83092 1.20349E-5 41546 0 1.1938E-5
12-52282025-C-T c.-347C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 3 83032 3.61306E-5 41516 0 4.94283E-5
12-52282033-A-G p.Ala21Ala synonymous ANKRD33 1 82986 1.20502E-5 41493 0 NA
12-52282036-C-T c.-336C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 2 82940 2.41138E-5 41470 0 7.96191E-6
12-52282047-T-G p.Val26Gly missense ANKRD33 1 82758 1.20834E-5 41379 0 5.27244E-4
12-52282052-G-A p.Val28Met missense ANKRD33 1 82630 1.21021E-5 41315 0 8.23859E-6
12-52282057-C-T p.Leu29Leu synonymous ANKRD33 5 82436 6.06531E-5 41218 0 1.99271E-5
12-52282060-C-T p.Arg30Arg synonymous ANKRD33 25922 81926 0.316408 40963 4191 0.356303
12-52282068-G-A p.Trp33* stop_gained ANKRD33 1 82172 1.21696E-5 41086 0 NA
12-52282069-G-A p.Trp33* stop_gained ANKRD33 2 82140 2.43487E-5 41070 0 1.19678E-5
12-52282077-C-T p.Pro36Leu missense ANKRD33 2 81934 2.44099E-5 40967 0 8.2394E-6
12-52282078-C-G p.Pro36Pro synonymous ANKRD33 320 81896 0.00390739 40948 4 0.00695109
12-52282078-C-T p.Pro36Pro synonymous ANKRD33 4 81900 4.884E-5 40950 0 8.23954E-6
12-52282082-G-A p.Val38Ile missense ANKRD33 1 81854 1.22169E-5 40927 0 5.03525E-4
12-52282082-G-C p.Val38Leu missense ANKRD33 1 81854 1.22169E-5 40927 0 NA
12-52282082-GT-G p.Asp39fs frameshift ANKRD33 1 81854 1.22169E-5 40927 0 NA
12-52282083-T-C p.Val38Ala missense ANKRD33 4 81880 4.8852E-5 40940 0 9.5645E-5
12-52282088-T-C p.Cys40Arg missense ANKRD33 1 81792 1.22261E-5 40896 0 8.24049E-6
12-52282094-A-T p.Ile42Leu missense ANKRD33 1 81764 1.22303E-5 40882 0 8.24117E-6
12-52282095-T-C p.Ile42Thr missense ANKRD33 1 81748 1.22327E-5 40874 0 NA
12-52282106-C-T p.Arg46* stop_gained ANKRD33 1 81540 1.22639E-5 40770 0 4.00525E-6
12-52282115-A-G p.Asn49Asp missense+splice_region ANKRD33 3 81552 3.67863E-5 40776 0 9.56328E-5
12-52282356-C-T p.Ala50Ala synonymous ANKRD33 6 81656 7.3479E-5 40828 0 1.02851E-5
12-52282370-A-T p.Lys55Ile missense ANKRD33 3 81946 3.66095E-5 40973 0 1.79901E-5
12-52282385-T-A p.Leu60Gln missense ANKRD33 2 82336 2.42907E-5 41168 0 3.18613E-5
12-52282405-G-A p.Glu67Lys missense ANKRD33 1 82634 1.21016E-5 41317 0 NA
12-52282414-G-T p.Ala70Ser missense ANKRD33 1 82790 1.20788E-5 41395 0 8.76255E-6
12-52282417-T-C c.-191T>C 5_prime_UTR_premature_start_codon_gain ANKRD33 299 82786 0.00361172 41393 4 0.00660119
12-52282418-T-C p.Leu71Ser missense ANKRD33 1 82788 1.2079E-5 41394 0 8.72844E-6
12-52282419-G-A p.Leu71Leu synonymous ANKRD33 1 82804 1.20767E-5 41402 0 6.37511E-5
12-52282429-C-T p.Arg75Trp missense ANKRD33 79 82858 9.53438E-4 41429 0 0.00242223
12-52282437-C-T p.Asp77Asp synonymous ANKRD33 1 82906 1.20619E-5 41453 0 NA
12-52282447-G-T p.Ala81Ser missense ANKRD33 1 82842 1.20712E-5 41421 0 4.03441E-6
12-52282458-C-T p.Cys84Cys synonymous ANKRD33 4 82744 4.83419E-5 41372 0 0.00100705
12-52282460-C-T p.Pro85Leu missense ANKRD33 47 82744 5.68017E-4 41372 1 8.92686E-4
12-52282460-C-A p.Pro85Gln missense ANKRD33 5 82744 6.04273E-5 41372 0 9.5645E-5
12-52282460-C-G p.Pro85Arg missense ANKRD33 1 82744 1.20855E-5 41372 0 8.47745E-6
12-52282461-G-T c.-147G>T 5_prime_UTR_premature_start_codon_gain ANKRD33 3 82742 3.62573E-5 41371 0 3.61882E-5
12-52282463-G-A p.Gly86Asp missense ANKRD33 1 82732 1.20872E-5 41366 0 3.18939E-5
12-52282466-A-G p.Lys87Arg missense ANKRD33 5 82728 6.0439E-5 41364 0 9.56755E-5
12-52282478-C-A p.Thr91Asn missense ANKRD33 3 82552 3.63407E-5 41276 0 0.00251762
12-52282479-C-G p.Thr91Thr synonymous ANKRD33 1 82558 1.21127E-5 41279 0 8.40463E-6
12-52282487-G-C p.Cys94Ser missense ANKRD33 1 82426 1.21321E-5 41213 0 NA
12-52282496-G-A p.Gly97Glu missense ANKRD33 1 82312 1.21489E-5 41156 0 1.66631E-5
12-52282498-G-A p.Ala98Thr missense ANKRD33 1 82218 1.21628E-5 41109 0 NA
12-52282501-C-T c.-107C>T 5_prime_UTR_premature_start_codon_gain ANKRD33 1 82220 1.21625E-5 41110 0 8.32487E-6
12-52282503-G-C p.Leu99Leu synonymous ANKRD33 1 82224 1.21619E-5 41112 0 1.66467E-5
12-52282508-G-A p.Trp101* stop_gained ANKRD33 4 82134 4.87009E-5 41067 0 2.49567E-5
12-52282509-G-C p.Trp101Cys missense ANKRD33 1 82108 1.21791E-5 41054 0 7.98722E-6
12-52282515-T-C p.Cys103Cys synonymous ANKRD33 5 82060 6.0931E-5 41030 0 9.18883E-5
12-52282521-C-T p.His105His synonymous ANKRD33 21 82024 2.56023E-4 41012 0 9.56328E-5
12-52282528-C-T p.Pro108Ser missense ANKRD33 1 81878 1.22133E-5 40939 0 8.33028E-6
12-52282531-A-T p.Thr109Ser missense ANKRD33 1 81632 1.22501E-5 40816 0 3.19163E-5
12-52282541-A-C p.Gln112Pro missense ANKRD33 1 81756 1.22315E-5 40878 0 4.00612E-6
12-52282551-G-T c.-57G>T 5_prime_UTR_premature_start_codon_gain ANKRD33 5 81758 6.11561E-5 40879 0 1.27445E-4
12-52282567-C-A p.Pro121Thr missense ANKRD33 3 81676 3.67305E-5 40838 0 3.38078E-5
12-52282567-C-G p.Pro121Ala missense ANKRD33 1 81676 1.22435E-5 40838 0 4.03151E-6
12-52282584-G-C p.Gln126His missense ANKRD33 1 81558 1.22612E-5 40779 0 NA
12-52282586-T-G p.Val127Gly missense ANKRD33 1 81470 1.22745E-5 40735 0 NA
12-52282587-G-A p.Val127Val synonymous ANKRD33 1 81514 1.22678E-5 40757 0 NA
12-52282602-G-A p.Arg132Arg splice_region+synonymous ANKRD33 3 81218 3.69376E-5 40609 0 NA
12-52282607-G-A c.396+5G>A splice_region ANKRD33 1 81104 1.23298E-5 40552 0 NA
12-52282608-A-G c.396+6A>G splice_region ANKRD33 1 81062 1.23362E-5 40531 0 4.07352E-6
12-52282845-C-T c.397-6C>T splice_region ANKRD33 2 82062 2.43718E-5 41031 0 NA
12-52282848-C-T c.397-3C>T splice_region ANKRD33 1 82168 1.21702E-5 41084 0 NA
12-52282850-G-A c.397-1G>A splice_acceptor ANKRD33 2 82210 2.43279E-5 41105 0 2.55135E-4
12-52282854-G-A c.-5-1G>A splice_acceptor ANKRD33 1 82258 1.21569E-5 41129 0 NA
12-52282859-C-T p.Leu135Leu synonymous ANKRD33 1 82342 1.21445E-5 41171 0 8.24742E-6
12-52282860-A-G p.Met1? start_lost ANKRD33 1 82328 1.21465E-5 41164 0 1.19375E-5
12-52282861-T-C p.Met1? start_lost ANKRD33 4 82346 4.85755E-5 41173 0 2.78534E-5
12-52282865-C-T p.Val137Val synonymous ANKRD33 58 82418 7.0373E-4 41209 0 0.00133937
12-52282865-C-G p.Val137Val synonymous ANKRD33 2 82418 2.42665E-5 41209 0 2.47349E-5
12-52282866-G-A p.Ala138Thr missense ANKRD33 2 82420 2.4266E-5 41210 0 1.23671E-4
12-52282869-T-C p.Cys139Arg missense ANKRD33 1 82484 1.21236E-5 41242 0 NA
12-52282873-A-T p.Tyr140Phe missense ANKRD33 26066 81888 0.318313 40944 4244 0.352369
12-52282877-C-T p.His141His synonymous ANKRD33 140 82562 0.0016957 41281 1 0.00255053
12-52282878-G-A p.Gly142Ser missense ANKRD33 1 82580 1.21095E-5 41290 0 1.19342E-5
12-52282886-G-A p.Gln144Gln synonymous ANKRD33 1 82686 1.20939E-5 41343 0 NA
12-52282908-C-G p.His152Asp missense ANKRD33 2 82838 2.41435E-5 41419 0 7.95412E-6
12-52282910-C-G p.His152Gln missense ANKRD33 5 82862 6.03413E-5 41431 0 8.23845E-6
12-52282930-A-G p.Asn159Ser missense ANKRD33 1 82924 1.20592E-5 41462 0 8.239E-6
12-52282935-C-T p.Gln161* stop_gained ANKRD33 1 82946 1.2056E-5 41473 0 NA
12-52282950-G-A p.Asp166Asn missense ANKRD33 1 82892 1.20639E-5 41446 0 NA
12-52282954-C-T p.Thr167Met missense ANKRD33 7 82862 8.44778E-5 41431 0 3.58024E-5
12-52282955-G-A p.Thr167Thr synonymous ANKRD33 1 82874 1.20665E-5 41437 0 1.19343E-5
12-52282958-C-G p.Ala168Ala synonymous ANKRD33 12 82900 1.44753E-4 41450 0 5.03525E-4
12-52282963-T-C p.Met170Thr missense ANKRD33 9 82906 1.08557E-4 41453 0 2.86679E-4
12-52282976-A-G p.Gln174Gln synonymous ANKRD33 1 82808 1.20761E-5 41404 0 NA
12-52282984-T-A c.526+4T>A splice_region ANKRD33 1 82776 1.20808E-5 41388 0 8.2428E-6
12-52282987-G-A c.526+7G>A splice_region ANKRD33 7 82738 8.46044E-5 41369 0 3.98016E-5
12-52283148-C-A c.527-8C>A splice_region ANKRD33 1 82626 1.21027E-5 41313 0 NA
12-52283153-C-G c.527-3C>G splice_region ANKRD33 3 82666 3.62906E-5 41333 0 8.32875E-6
12-52283160-C-T p.Thr134Met missense ANKRD33 34 82680 4.11224E-4 41340 0 0.00100705
12-52283170-G-A p.Val181Met missense ANKRD33 2 82800 2.41546E-5 41400 0 NA
12-52283185-A-C p.Asn186His missense ANKRD33 1 82806 1.20764E-5 41403 0 NA
12-52283192-A-G p.Tyr188Cys missense ANKRD33 3 82846 3.62118E-5 41423 0 3.97972E-5
12-52283192-A-T p.Tyr188Phe missense ANKRD33 4 82846 4.82824E-5 41423 0 2.1546E-4
12-52283195-T-C p.Val189Ala missense ANKRD33 1 82854 1.20694E-5 41427 0 NA
12-52283198-G-T p.Gly190Val missense ANKRD33 1 82824 1.20738E-5 41412 0 3.18654E-5
12-52283210-A-T p.Glu194Val missense ANKRD33 1 82808 1.20761E-5 41404 0 NA
12-52283212-C-T p.Arg195Cys missense ANKRD33 1 82794 1.20782E-5 41397 0 3.98045E-6
12-52283213-G-T p.Arg195Leu missense ANKRD33 2 82786 2.41587E-5 41393 0 2.49095E-5
12-52283215-C-T p.Arg196Trp missense ANKRD33 1 82820 1.20744E-5 41410 0 1.2751E-4
12-52283216-G-A p.Arg196Gln missense ANKRD33 7 82808 8.45329E-5 41404 0 1.99056E-5
12-52283218-G-C p.Asp197His missense ANKRD33 3 82850 3.621E-5 41425 0 2.49128E-5
12-52283225-G-A p.Arg199Gln missense ANKRD33 285 82808 0.0034417 41404 0 0.00621494
12-52283234-C-T p.Thr202Met missense ANKRD33 8 82810 9.66067E-5 41405 0 0.00251762
12-52283237-C-T p.Ala203Val missense ANKRD33 7 82786 8.45554E-5 41393 0 2.54956E-4
12-52283249-C-T p.Ala207Val missense ANKRD33 15 82742 1.81286E-4 41371 0 6.78858E-4
12-52283250-T-A p.Ala207Ala synonymous ANKRD33 2 82732 2.41744E-5 41366 0 NA
12-52283258-G-A p.Arg210Gln missense ANKRD33 2 82666 2.41937E-5 41333 0 0.00100705
12-52283259-G-A p.Arg210Arg synonymous ANKRD33 1 82642 1.21004E-5 41321 0 3.99026E-6
12-52283263-C-T p.Arg212Cys missense ANKRD33 3 82564 3.63354E-5 41282 0 6.25E-4
12-52283264-G-A p.Arg212His missense+splice_region ANKRD33 5 82530 6.0584E-5 41265 0 3.41489E-5
12-52283273-G-A p.Cys80Tyr missense ANKRD33 19 82466 2.30398E-4 41233 0 0.00100705
12-52283274-C-T c.637+8C>T splice_region ANKRD33 5 82410 6.06722E-5 41205 0 1.20308E-5
12-52283287-C-T p.Leu85Phe missense ANKRD33 1 82314 1.21486E-5 41157 0 NA
12-52283297-G-A c.262+1G>A splice_donor ANKRD33 6 82094 7.3087E-5 41047 0 9.55597E-5
12-52283302-C-T c.262+6C>T splice_region ANKRD33 17240 80934 0.213013 40467 1783 0.235862
12-52283303-G-A c.262+7G>A splice_region ANKRD33 690 81790 0.00843624 40895 7 0.0100994
12-52284274-G-A n.649+1G>A splice_donor ANKRD33 14682 79056 0.185716 39528 1245 0.191979
12-52284277-A-G n.649+4A>G splice_region ANKRD33 1 80020 1.24969E-5 40010 0 NA
12-52284280-C-G n.649+7C>G splice_region ANKRD33 1 80036 1.24944E-5 40018 0 NA
12-52284368-G-C p.Cys213Ser missense+splice_region ANKRD33 1 82180 1.21684E-5 41090 0 3.67875E-5
12-52284380-C-T p.Thr217Ile missense ANKRD33 1 82412 1.21342E-5 41206 0 3.18654E-5
12-52284403-A-G p.Lys225Glu missense ANKRD33 4 82648 4.8398E-5 41324 0 5.25911E-5
12-52284408-G-A p.Thr226Thr synonymous ANKRD33 2 82686 2.41879E-5 41343 0 2.65308E-5
12-52284428-T-G p.Leu233Arg missense ANKRD33 1 82790 1.20788E-5 41395 0 NA
12-52284441-C-T p.Phe237Phe synonymous ANKRD33 1 82812 1.20755E-5 41406 0 8.54803E-6
12-52284442-G-A p.Asp238Asn missense ANKRD33 3 82832 3.62179E-5 41416 0 9.55475E-5
12-52284443-A-G p.Asp238Gly missense ANKRD33 1 82820 1.20744E-5 41410 0 2.85383E-4
12-52284444-C-T p.Asp238Asp synonymous ANKRD33 1 82828 1.20732E-5 41414 0 NA
12-52284447-C-T p.Thr239Thr synonymous ANKRD33 4707 82740 0.056889 41370 156 0.0498489
12-52284448-G-A p.Val240Met missense ANKRD33 4 82844 4.82835E-5 41422 0 5.03525E-4
12-52284454-A-G p.Arg242Gly missense ANKRD33 1 82850 1.207E-5 41425 0 8.19914E-6
12-52284461-G-A p.Arg244Gln missense ANKRD33 1 82796 1.20779E-5 41398 0 1.72805E-4
12-52284463-C-T p.Gln245* stop_gained ANKRD33 4 82772 4.83255E-5 41386 0 4.52251E-5
12-52284473-G-A p.Arg248Lys missense ANKRD33 1 82708 1.20907E-5 41354 0 NA
12-52284475-C-T p.Arg249Trp missense ANKRD33 36 82662 4.35508E-4 41331 0 6.38287E-4
12-52284480-C-T p.Pro250Pro synonymous ANKRD33 2 82688 2.41873E-5 41344 0 1.2376E-5
12-52284483-A-G p.Gln251Gln synonymous ANKRD33 15360 82368 0.18648 41184 1538 0.181528
12-52284488-A-G p.Glu253Gly missense ANKRD33 1 82586 1.21086E-5 41293 0 8.50629E-6
12-52284499-CA-TG p.Gln257Trp missense ANKRD33 5 82598 6.05342E-5 41299 0 NA
12-52284499-C-T p.Gln257* stop_gained ANKRD33 4 82598 4.84273E-5 41299 0 5.20132E-4
12-52284500-A-G p.Gln257Arg missense ANKRD33 14803 82194 0.180098 41097 1355 0.2075
12-52284514-G-A p.Glu262Lys missense ANKRD33 2 82432 2.42624E-5 41216 0 4.97451E-5
12-52284521-C-T p.Pro264Leu missense ANKRD33 27 82356 3.27845E-4 41178 0 0.00100705
12-52284522-G-A p.Pro264Pro synonymous ANKRD33 2 82296 2.43025E-5 41148 0 1.27494E-4
12-52284525-C-T p.Ala265Ala synonymous ANKRD33 6 82322 7.28845E-5 41161 0 5.25449E-5
12-52284531-C-T p.Ser267Ser synonymous ANKRD33 2 82260 2.43132E-5 41130 0 3.18735E-5
12-52284532-G-T p.Gly268Trp missense ANKRD33 1 82246 1.21586E-5 41123 0 NA
12-52284537-C-T p.Leu269Leu synonymous ANKRD33 6 82128 7.30567E-5 41064 0 0.003125
12-52284538-G-A p.Val270Met missense ANKRD33 354 82068 0.0043135 41034 6 0.00833067
12-52284538-G-GTGGCCC p.Ala271_Gln272insLeuAla disruptive_inframe_insertion ANKRD33 1 82094 1.21812E-5 41047 0 NA
12-52284539-T-TGGCCCA p.Ala277_Gln278dup disruptive_inframe_insertion ANKRD33 630 82114 0.00767226 41057 5 0.00666114
12-52284539-TGGCCCA-T p.Ala277_Gln278del disruptive_inframe_deletion ANKRD33 3 82128 3.65283E-5 41064 0 2.83331E-4
12-52284555-C-T p.Ala275Ala synonymous ANKRD33 2 82118 2.43552E-5 41059 0 1.80203E-5
12-52284559-G-A p.Ala277Thr missense ANKRD33 1 82136 1.21749E-5 41068 0 9.04732E-6
12-52284561-C-T p.Ala277Ala synonymous ANKRD33 2 82146 2.43469E-5 41073 0 NA
12-52284581-T-C p.Leu284Pro missense ANKRD33 1 82102 1.218E-5 41051 0 NA
12-52284582-A-C p.Leu284Leu synonymous ANKRD33 2 82140 2.43487E-5 41070 0 NA
12-52284586-C-T p.Arg286Trp missense ANKRD33 31 82082 3.77671E-4 41041 0 6.18913E-4
12-52284587-G-A p.Arg286Gln missense ANKRD33 3 82058 3.65595E-5 41029 0 3.18756E-5
12-52284596-C-G p.Ala289Gly missense ANKRD33 1 81904 1.22094E-5 40952 0 NA
12-52284603-G-T p.Leu291Phe missense ANKRD33 3 81846 3.66542E-5 40923 0 1.78584E-5
12-52284612-C-T p.Pro294Pro synonymous ANKRD33 1 81812 1.22231E-5 40906 0 3.18735E-5
12-52284619-C-T p.Pro297Ser missense ANKRD33 1 81640 1.22489E-5 40820 0 NA
12-52284620-C-T p.Pro297Leu missense ANKRD33 1991 81512 0.0244259 40756 38 0.0298316
12-52284621-G-A p.Pro297Pro synonymous ANKRD33 5 81516 6.13377E-5 40758 0 9.56694E-5
12-52284628-C-T p.Gln300* stop_gained ANKRD33 1 81446 1.22781E-5 40723 0 NA
12-52284632-A-AG p.Val304fs frameshift ANKRD33 1 81280 1.23031E-5 40640 0 3.19183E-5
12-52284633-G-A p.Glu301Glu synonymous ANKRD33 2 81328 2.45918E-5 40664 0 NA
12-52284642-T-G p.Val304Val synonymous ANKRD33 1 81100 1.23305E-5 40550 0 NA
12-52284648-C-G p.Asp306Glu missense ANKRD33 1 80840 1.23701E-5 40420 0 NA
12-52284652-C-T p.Leu308Phe missense ANKRD33 1 80714 1.23894E-5 40357 0 NA
12-52284668-C-A p.Thr313Asn missense ANKRD33 16107 79092 0.203649 39546 1796 0.20118
12-52284668-C-G p.Thr313Ser missense ANKRD33 37 79974 4.6265E-4 39987 0 0.00153374
12-52284672-C-T p.Ser314Ser synonymous ANKRD33 1 79808 1.25301E-5 39904 0 2.42045E-5
12-52284679-A-G p.Ser317Gly missense ANKRD33 1 79484 1.25811E-5 39742 0 8.48724E-6
12-52284684-C-T p.Pro318Pro synonymous ANKRD33 1 79262 1.26164E-5 39631 0 1.69774E-5
12-52284687-C-T p.Phe319Phe synonymous ANKRD33 1 78970 1.2663E-5 39485 0 1.2747E-4
12-52284688-G-A p.Val320Ile missense ANKRD33 8 78616 1.0176E-4 39308 1 6.79521E-5
12-52284707-C-G p.Thr326Ser missense ANKRD33 2 78190 2.55787E-5 39095 0 NA
12-52284714-C-T p.Cys328Cys synonymous ANKRD33 2 78080 2.56148E-5 39040 0 8.48392E-6
12-52284715-C-T p.Pro329Ser missense ANKRD33 2 78130 2.55984E-5 39065 0 8.48378E-6
12-52284720-C-G p.Asp330Glu missense ANKRD33 1 78100 1.28041E-5 39050 0 1.69707E-5
12-52284720-C-T p.Asp330Asp synonymous ANKRD33 1 78100 1.28041E-5 39050 0 NA
12-52284731-C-T p.Ser334Leu missense ANKRD33 2 77966 2.56522E-5 38983 0 2.5479E-5
12-52284732-G-A p.Ser334Ser synonymous ANKRD33 2 77732 2.57294E-5 38866 0 2.82413E-5
12-52284740-C-T p.Thr337Ile missense ANKRD33 1 78280 1.27747E-5 39140 0 4.03206E-6
12-52284742-C-T p.Arg338* stop_gained ANKRD33 2 78262 2.55552E-5 39131 0 1.2103E-5
12-52284743-G-A p.Arg338Gln missense ANKRD33 1 78442 1.27483E-5 39221 0 3.18674E-5
12-52284753-C-T p.Ser341Ser synonymous ANKRD33 2 79054 2.52992E-5 39527 0 1.21034E-5
12-52284768-A-T p.Leu221Phe missense+splice_region ANKRD33 1 79748 1.25395E-5 39874 0 6.25E-4
12-52284774-T-G c.664+5T>G splice_region ANKRD33 1 79892 1.25169E-5 39946 0 NA
12-52284779-C-T p.Pro350Leu missense ANKRD33 2 80014 2.49956E-5 40007 0 9.56145E-5
12-52284780-G-A p.Pro350Pro synonymous ANKRD33 12 79516 1.50913E-4 39758 1 0.00125
12-52284782-C-T p.Pro351Leu missense ANKRD33 1 80148 1.24769E-5 40074 0 NA
12-52284785-C-G p.Pro352Arg missense ANKRD33 2 80346 2.48923E-5 40173 0 8.07617E-6
12-52284798-C-T p.Pro356Pro synonymous ANKRD33 6 80876 7.41876E-5 40438 0 1.27502E-4
12-52284800-A-C p.Gln357Pro missense ANKRD33 1 80746 1.23845E-5 40373 0 NA
12-52284800-A-G p.Gln357Arg missense ANKRD33 1 80756 1.2383E-5 40378 0 4.03401E-6
12-52284801-G-A p.Gln357Gln synonymous ANKRD33 1 80872 1.23652E-5 40436 0 NA
12-52284807-G-A p.Pro359Pro synonymous ANKRD33 14 80788 1.73293E-4 40394 0 9.66028E-5
12-52284807-G-T p.Pro359Pro synonymous ANKRD33 1 80788 1.23781E-5 40394 0 5.03525E-4
12-52284811-G-A p.Gly361Arg missense ANKRD33 1 81496 1.22705E-5 40748 0 NA
12-52284827-C-T p.Ser366Phe missense ANKRD33 1 82108 1.21791E-5 41054 0 NA
12-52284830-C-T p.Pro367Leu missense ANKRD33 5 82254 6.07873E-5 41127 0 1.19837E-5
12-52284831-G-A p.Pro367Pro synonymous ANKRD33 3 82190 3.65008E-5 41095 0 3.9924E-6
12-52284840-C-T p.Phe370Phe synonymous ANKRD33 1 82542 1.2115E-5 41271 0 1.67118E-5
12-52284840-C-A p.Phe370Leu missense ANKRD33 1 82542 1.2115E-5 41271 0 NA
12-52284841-G-A p.Val371Ile missense ANKRD33 1 82560 1.21124E-5 41280 0 3.19693E-5
12-52284842-T-A p.Val371Asp missense ANKRD33 1 82630 1.21021E-5 41315 0 8.34084E-6
12-52284844-C-T p.Pro372Ser missense ANKRD33 1 82694 1.20928E-5 41347 0 1.66667E-5
12-52284848-A-G p.Tyr373Cys missense ANKRD33 1 82778 1.20805E-5 41389 0 NA
12-52284853-A-G p.Ser375Gly missense ANKRD33 1 82864 1.2068E-5 41432 0 1.66025E-5
12-52284861-G-A p.Gln377Gln synonymous ANKRD33 1 82964 1.20534E-5 41482 0 1.65634E-5
12-52284865-A-C p.Ile379Leu missense ANKRD33 1 82982 1.20508E-5 41491 0 NA
12-52284872-G-A p.Ser381Asn missense ANKRD33 2 83016 2.40917E-5 41508 0 2.38743E-5
12-52284879-C-A p.Cys383* stop_gained ANKRD33 7 83066 8.42703E-5 41533 0 0.00100705
12-52284884-A-G p.Gln385Arg missense ANKRD33 1 83092 1.20349E-5 41546 0 NA
12-52284888-G-A p.Trp386* stop_gained ANKRD33 1 83104 1.20331E-5 41552 0 NA
12-52284892-C-A p.Gln388Lys missense ANKRD33 1 83082 1.20363E-5 41541 0 0.0155418
12-52284897-C-T p.Pro389Pro synonymous ANKRD33 24 83118 2.88746E-4 41559 0 0.00100705
12-52284914-C-G p.Pro395Arg missense ANKRD33 23 83178 2.76515E-4 41589 0 3.82141E-4
12-52284921-C-T p.Pro397Pro synonymous ANKRD33 1 83188 1.2021E-5 41594 0 8.24212E-6
12-52284949-G-A p.Ala407Thr missense ANKRD33 1 83234 1.20143E-5 41617 0 NA
12-52284950-C-A p.Ala407Glu missense ANKRD33 1 83238 1.20137E-5 41619 0 3.977E-6
12-52284965-A-G p.His412Arg missense ANKRD33 1 83228 1.20152E-5 41614 0 NA
12-52284969-G-C c.665-1G>C splice_acceptor ANKRD33 10 83248 1.20123E-4 41624 0 0.00100705
12-52284970-T-G p.Val222Gly missense+splice_region ANKRD33 1 83246 1.20126E-5 41623 0 9.55353E-5
12-52284977-C-T p.Pro416Leu missense ANKRD33 3 83254 3.60343E-5 41627 0 9.06857E-5
12-52284978-G-A p.Glu225Lys missense ANKRD33 2 83254 2.40229E-5 41627 0 3.1841E-5
12-52284981-G-T p.Lys417Asn missense ANKRD33 7 83256 8.4078E-5 41628 0 NA
12-52284982-C-T p.Pro418Ser missense ANKRD33 2 83268 2.40188E-5 41634 0 6.59729E-5
12-52284990-T-C p.Phe229Leu missense ANKRD33 1 83238 1.20137E-5 41619 0 NA
12-52284993-A-G p.Arg230Gly missense ANKRD33 1 83250 1.2012E-5 41625 0 3.97703E-6
12-52284995-G-A p.Gly422Glu missense ANKRD33 1 83242 1.20132E-5 41621 0 3.18471E-5
12-52284995-G-T p.Gly422Val missense ANKRD33 1 83242 1.20132E-5 41621 0 3.18471E-5
12-52285018-C-T p.Leu430Phe missense ANKRD33 4 83218 4.80665E-5 41609 0 1.19347E-5
12-52285024-C-T p.Arg432* stop_gained ANKRD33 3 83180 3.60664E-5 41590 0 1.1541E-4
12-52285025-G-A p.Arg432Gln missense ANKRD33 1 83194 1.20201E-5 41597 0 3.18451E-5
12-52285035-G-A p.Ala244Thr missense ANKRD33 1 83162 1.20247E-5 41581 0 NA
12-52285035-G-C p.Glu435Asp missense ANKRD33 1 83162 1.20247E-5 41581 0 NA
12-52285039-A-C p.Gln245Pro missense ANKRD33 8 83152 9.62094E-5 41576 0 2.50618E-5
12-52285043-T-C p.Ile438Thr missense ANKRD33 4 83122 4.8122E-5 41561 0 3.18492E-5
12-52285050-G-A p.Glu249Lys missense ANKRD33 1 83090 1.20351E-5 41545 0 6.36821E-5
12-52285052-G-A p.Arg441Lys missense ANKRD33 192 83080 0.00231103 41540 0 0.003125
12-52285053-G-C p.Arg441Ser missense ANKRD33 2 83074 2.40749E-5 41537 0 NA
12-52285057-CAGG-C p.Glu446del disruptive_inframe_deletion ANKRD33 2 83026 2.40888E-5 41513 0 3.98648E-6
12-52285080-A-C p.Thr259Pro missense ANKRD33 1 82496 1.21218E-5 41248 0 3.9991E-6
12-52285080-A-T p.Thr259Ser missense ANKRD33 1 82496 1.21218E-5 41248 0 NA
12-52285086-G-A p.Val261Ile missense ANKRD33 13500 80606 0.167481 40303 861 0.204308
12-52285090-G-A p.Gly262Glu missense ANKRD33 1981 81936 0.0241774 40968 25 0.0352467
12-52285098-G-A p.Gly265Arg missense ANKRD33 1 81678 1.22432E-5 40839 0 4.03874E-6
12-52285100-G-A p.Gly265Gly synonymous ANKRD33 1 81572 1.22591E-5 40786 0 1.09158E-5
12-52285101-A-C p.Ile266Leu missense ANKRD33 52 81518 6.37896E-4 40759 1 0.00553877
12-52285103-A-G p.Ile266Met missense ANKRD33 4 81430 4.91219E-5 40715 0 3.35375E-5
12-52285105-G-A p.Gly267Glu missense ANKRD33 1 81272 1.23044E-5 40636 0 3.18471E-5
12-52285111-C-G p.Ala269Gly missense ANKRD33 9 80894 1.11257E-4 40447 0 6.25E-4
12-52285209-C-CTA n.1500_1501dupTA splice_region ANKRD33 12487 61964 0.20152 30982 1359 0.208056