Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-151561168-C-T c.-206C>T 5_prime_UTR_premature_start_codon_gain AKAP12 3 2946 0.00101833 1473 0 0.00710644
6-151561510-TC-T c.-179-8delC splice_region AKAP12 1 19166 5.21757E-5 9583 0 3.36519E-5
6-151561516-A-C c.-179-3A>C splice_region AKAP12 1 21234 4.70943E-5 10617 0 3.48845E-5
6-151561517-A-T c.-179-2A>T splice_acceptor AKAP12 1 22284 4.48752E-5 11142 0 NA
6-151561519-G-A c.-179G>A splice_region AKAP12 7 23064 3.03503E-4 11532 0 1.31251E-4
6-151561565-C-T c.-133C>T 5_prime_UTR_premature_start_codon_gain AKAP12 15 29926 5.01236E-4 14963 0 NA
6-151561703-C-T p.Gly2Gly synonymous AKAP12 2 38918 5.13901E-5 19459 0 3.22601E-5
6-151561708-G-A p.Gly4Glu missense AKAP12 8 38988 2.05191E-4 19494 0 3.21419E-4
6-151561710-A-G p.Ser5Gly missense AKAP12 1 38892 2.57122E-5 19446 0 1.64946E-5
6-151561715-C-T p.Ser6Ser synonymous AKAP12 7 38922 1.79847E-4 19461 0 2.56822E-4
6-151561719-G-A p.Glu8Lys missense AKAP12 1 38794 2.57772E-5 19397 0 1.62644E-5
6-151561722-C-G p.Gln9Glu missense AKAP12 2 38750 5.16129E-5 19375 0 NA
6-151561730-C-G p.Ser11Arg missense AKAP12 8 38448 2.08073E-4 19224 0 2.25472E-4
6-151561759-C-G p.Thr21Arg missense AKAP12 1 36720 2.72331E-5 18360 0 NA
6-151561778-C-T p.Pro27Pro synonymous AKAP12 2 35544 5.62683E-5 17772 0 3.20595E-5
6-151561780-G-C p.Ser28Thr missense AKAP12 1 35242 2.83752E-5 17621 0 NA
6-151561796-G-A p.Ser33Ser synonymous AKAP12 4 34472 1.16036E-4 17236 0 1.61041E-4
6-151561811-A-G p.Pro38Pro synonymous AKAP12 1 33692 2.96806E-5 16846 0 3.22789E-5
6-151561836-G-A p.Ala47Thr missense AKAP12 3 32314 9.2839E-5 16157 0 NA
6-151561840-C-T p.Ala48Val missense AKAP12 1 32224 3.10328E-5 16112 0 NA
6-151561843-C-T p.Ser49Leu missense AKAP12 2 32088 6.23286E-5 16044 0 NA
6-151561864-G-C c.162+5G>C splice_region AKAP12 4 31520 1.26904E-4 15760 0 NA
6-151626888-C-CT p.Gln57fs frameshift AKAP12 1 83154 1.20259E-5 41577 0 NA
6-151626889-A-AT p.Gln57fs frameshift AKAP12 1 83152 1.20262E-5 41576 0 NA
6-151626890-GAA-G p.Lys58fs frameshift AKAP12 1 83152 1.20262E-5 41576 0 NA
6-151626894-A-G p.Asn59Asp missense AKAP12 1 83158 1.20253E-5 41579 0 NA
6-151626908-C-T p.Ser63Ser synonymous AKAP12 2 83158 2.40506E-5 41579 0 3.18573E-5
6-151626913-T-A p.Ile65Asn missense AKAP12 1 83170 1.20236E-5 41585 0 NA
6-151626921-G-A p.Val68Ile missense AKAP12 2 83130 2.40587E-5 41565 0 2.78924E-5
6-151626927-G-C p.Glu70Gln missense AKAP12 1 83152 1.20262E-5 41576 0 NA
6-151626933-G-A p.Asp72Asn missense AKAP12 209 83160 0.00251323 41580 7 0.0124773
6-151626945-C-T p.Leu76Phe missense AKAP12 1 83142 1.20276E-5 41571 0 1.65769E-5
6-151626948-C-A p.Gln77Lys missense AKAP12 1 83136 1.20285E-5 41568 0 NA
6-151626962-A-C p.Leu81Leu synonymous AKAP12 1 83126 1.20299E-5 41563 0 NA
6-151626965-T-A p.Asn82Lys missense AKAP12 87 83130 0.00104655 41565 0 0.0060423
6-151626967-G-T p.Gly83Val missense AKAP12 3 83120 3.60924E-5 41560 0 3.98172E-6
6-151626976-G-A p.Gly86Glu missense AKAP12 1 83086 1.20357E-5 41543 0 4.27394E-5
6-151626979-C-T p.Ala87Val missense AKAP12 2 83078 2.40738E-5 41539 0 3.98654E-6
6-151626987-G-C p.Gly90Arg missense AKAP12 16 83050 1.92655E-4 41525 0 4.77951E-4
6-151626987-G-A p.Gly90Ser missense AKAP12 5 83050 6.02047E-5 41525 0 5.03525E-4
6-151626994-G-A p.Gly92Glu missense AKAP12 1 83060 1.20395E-5 41530 0 3.99667E-6
6-151627013-GGAA-G p.Glu101del disruptive_inframe_deletion AKAP12 139 82992 0.00167486 41496 1 0.0025227
6-151627025-C-A p.Val102Val synonymous AKAP12 2 82890 2.41284E-5 41445 0 4.08407E-4
6-151627033-CA-TG p.Thr105Met missense AKAP12 6 82730 7.25251E-5 41365 0 NA
6-151627033-C-T p.Thr105Ile missense AKAP12 4 82730 4.83501E-5 41365 0 1.04568E-4
6-151627034-A-G p.Thr105Thr synonymous AKAP12 29468 81518 0.361491 40759 5710 0.382913
6-151627045-C-T c.319+7C>T splice_region AKAP12 41 82490 4.9703E-4 41245 0 6.25E-4
6-151627046-G-A c.319+8G>A splice_region AKAP12 1 82344 1.21442E-5 41172 0 1.51561E-4
6-151646830-C-G c.-166C>G 5_prime_UTR_premature_start_codon_gain AKAP12 1 70812 1.41219E-5 35406 0 NA
6-151646842-C-G c.-154C>G 5_prime_UTR_premature_start_codon_gain AKAP12 3 74046 4.05154E-5 37023 0 6.36132E-4
6-151646843-C-T c.-153C>T 5_prime_UTR_premature_start_codon_gain AKAP12 1 74142 1.34876E-5 37071 0 NA
6-151646844-G-T c.-152G>T 5_prime_UTR_premature_start_codon_gain AKAP12 2 74162 2.6968E-5 37081 0 NA
6-151646872-G-T c.-124G>T 5_prime_UTR_premature_start_codon_gain AKAP12 1 77700 1.287E-5 38850 0 NA
6-151646915-G-T c.-81G>T 5_prime_UTR_premature_start_codon_gain AKAP12 5 79798 6.26582E-5 39899 0 6.37064E-5
6-151646936-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain AKAP12 2 80232 2.49277E-5 40116 0 NA
6-151646991-A-G c.-5A>G 5_prime_UTR_premature_start_codon_gain AKAP12 2 80700 2.47831E-5 40350 0 4.13367E-5
6-151647003-G-A p.Gly3Glu missense AKAP12 1 80686 1.23937E-5 40343 0 3.18654E-5
6-151647004-G-C p.Gly3Gly synonymous AKAP12 2 80678 2.47899E-5 40339 0 3.18715E-5
6-151647009-T-TCAC p.Thr6dup disruptive_inframe_insertion AKAP12 2 80640 2.48016E-5 40320 0 NA
6-151647014-A-G p.Ile7Val missense AKAP12 4 80608 4.96229E-5 40304 0 NA
6-151647019-A-C p.Thr8Thr splice_region+synonymous AKAP12 34 80598 4.21847E-4 40299 0 1.81803E-4
6-151647028-A-T c.25+8A>T splice_region AKAP12 68 80532 8.44385E-4 40266 0 6.3073E-4
6-151662828-A-T c.-90A>T 5_prime_UTR_premature_start_codon_gain AKAP12 1 76102 1.31403E-5 38051 0 NA
6-151662857-C-T c.-61C>T 5_prime_UTR_premature_start_codon_gain AKAP12 10 76354 1.30969E-4 38177 0 3.19877E-5
6-151662874-C-T c.-44C>T 5_prime_UTR_premature_start_codon_gain AKAP12 2 76412 2.61739E-5 38206 0 8.20479E-6
6-151662909-C-T c.-9C>T 5_prime_UTR_premature_start_codon_gain AKAP12 2 76424 2.61698E-5 38212 0 3.18735E-5
6-151662928-G-T c.4+7G>T splice_region AKAP12 1 76430 1.30839E-5 38215 0 NA
6-151669837-TG-T c.320-8delG splice_region AKAP12 1 62460 1.60102E-5 31230 0 4.72921E-5
6-151669838-G-T c.320-8G>T splice_region AKAP12 38 63378 5.99577E-4 31689 0 0.00276113
6-151669838-G-A c.320-8G>A splice_region AKAP12 16 63576 2.51667E-4 31788 0 0.00107241
6-151669841-A-T c.320-5A>T splice_region AKAP12 2 67444 2.96542E-5 33722 0 1.97344E-5
6-151669854-A-G p.Arg110Gly missense AKAP12 1 79120 1.2639E-5 39560 0 1.66445E-5
6-151669870-T-A p.Val115Glu missense AKAP12 1 82032 1.21904E-5 41016 0 1.03331E-5
6-151669871-G-A p.Val115Val synonymous AKAP12 2 82126 2.43528E-5 41063 0 9.74279E-5
6-151669875-A-G p.Lys117Glu missense AKAP12 54605 73430 0.743633 36715 20227 0.770625
6-151669886-C-T p.Ser120Ser synonymous AKAP12 3 82910 3.61838E-5 41455 0 3.22456E-5
6-151669895-G-A p.Glu123Glu synonymous AKAP12 1 83116 1.20314E-5 41558 0 3.20287E-5
6-151669909-C-T p.Ser128Leu missense AKAP12 3 83238 3.60412E-5 41619 0 3.19407E-5
6-151669912-C-T p.Ala129Val missense AKAP12 2 83244 2.40258E-5 41622 0 7.95729E-6
6-151669922-C-T p.His132His synonymous AKAP12 2 83276 2.40165E-5 41638 0 6.38692E-5
6-151669923-G-A p.Asp133Asn missense AKAP12 12 83276 1.44099E-4 41638 0 8.24797E-5
6-151669939-G-C p.Gly138Ala missense AKAP12 1 83286 1.20068E-5 41643 0 3.97649E-6
6-151669951-C-T p.Thr142Ile missense AKAP12 1 83290 1.20062E-5 41645 0 8.23886E-6
6-151669952-A-G p.Thr142Thr synonymous AKAP12 1 83296 1.20054E-5 41648 0 NA
6-151669956-G-A p.Glu144Lys missense AKAP12 2 83298 2.40102E-5 41649 0 3.18674E-5
6-151669964-C-A p.Ile146Ile synonymous AKAP12 1 83316 1.20025E-5 41658 0 NA
6-151669965-G-A p.Glu147Lys missense AKAP12 1 83318 1.20022E-5 41659 0 5.76663E-5
6-151669968-C-T p.Gln148* stop_gained AKAP12 1 83334 1.19999E-5 41667 0 NA
6-151669977-T-C p.Ser151Pro missense AKAP12 2 83320 2.40038E-5 41660 0 8.2375E-6
6-151669995-G-A p.Glu157Lys missense AKAP12 1 83322 1.20016E-5 41661 0 3.97627E-6
6-151670000-G-A p.Glu158Glu synonymous AKAP12 34 83336 4.07987E-4 41668 1 7.32671E-4
6-151670004-A-T p.Thr160Ser missense AKAP12 1 83338 1.19993E-5 41669 0 NA
6-151670015-T-A p.Thr163Thr synonymous AKAP12 1 83334 1.19999E-5 41667 0 NA
6-151670020-C-A p.Ser165Tyr missense AKAP12 3 83334 3.59997E-5 41667 0 3.18593E-5
6-151670025-G-C p.Ala167Pro missense AKAP12 6 83330 7.20029E-5 41665 0 1.59266E-4
6-151670035-T-C p.Ile170Thr missense AKAP12 83 83352 9.95777E-4 41676 0 0.0018161
6-151670039-A-C p.Gly171Gly synonymous AKAP12 2 83356 2.39935E-5 41678 0 NA
6-151670048-G-A p.Lys174Lys synonymous AKAP12 1 83360 1.19962E-5 41680 0 9.5584E-5
6-151670057-G-A p.Lys177Lys synonymous AKAP12 74 83354 8.8778E-4 41677 1 0.00316331
6-151670061-G-T p.Val179Phe missense AKAP12 1 83350 1.19976E-5 41675 0 NA
6-151670095-C-T p.Thr190Ile missense AKAP12 1 83312 1.20031E-5 41656 0 3.18532E-5
6-151670099-G-A p.Glu191Glu synonymous AKAP12 1 83316 1.20025E-5 41658 0 NA
6-151670102-G-A p.Lys192Lys synonymous AKAP12 7 83300 8.40336E-5 41650 0 4.12079E-5
6-151670106-G-C p.Asp194His missense AKAP12 1 83298 1.20051E-5 41649 0 NA
6-151670117-G-A p.Gln197Gln synonymous AKAP12 158 83272 0.0018974 41636 3 0.00248471
6-151670119-T-C p.Leu198Pro missense AKAP12 1 83266 1.20097E-5 41633 0 NA
6-151670128-T-G p.Val201Gly missense AKAP12 1 83240 1.20135E-5 41620 0 NA
6-151670166-G-A p.Asp214Asn missense AKAP12 2 82936 2.4115E-5 41468 0 6.37755E-5
6-151670166-G-C p.Asp214His missense AKAP12 1 82936 1.20575E-5 41468 0 3.18878E-5
6-151670168-C-T p.Asp214Asp synonymous AKAP12 2 82950 2.41109E-5 41475 0 8.26515E-6
6-151670172-A-C p.Lys216Gln missense AKAP12 55686 81704 0.681558 40852 19379 0.686875
6-151670173-A-G p.Lys216Arg missense AKAP12 1 82994 1.20491E-5 41497 0 NA
6-151670178-C-A p.Pro218Thr missense AKAP12 41 82986 4.94059E-4 41493 0 6.37674E-4
6-151670191-C-G p.Ala222Gly missense AKAP12 4 82954 4.82195E-5 41477 0 3.18674E-5
6-151670199-G-A p.Ala225Thr missense AKAP12 22 82966 2.65169E-4 41483 0 2.86752E-4
6-151670202-G-A p.Ala226Thr missense AKAP12 3 82956 3.61638E-5 41478 0 8.03503E-6
6-151670216-C-T p.Ser230Ser synonymous AKAP12 1 82912 1.2061E-5 41456 0 3.18817E-5
6-151670217-G-A p.Glu231Lys missense AKAP12 1 82930 1.20584E-5 41465 0 2.81581E-5
6-151670223-A-C p.Lys233Gln missense AKAP12 1 82920 1.20598E-5 41460 0 8.33111E-5
6-151670230-C-A p.Ser235Tyr missense AKAP12 1 82864 1.2068E-5 41432 0 1.66692E-5
6-151670237-G-A p.Glu237Glu synonymous AKAP12 2 82856 2.41383E-5 41428 0 3.18837E-5
6-151670241-C-T p.Pro239Ser missense AKAP12 5 82814 6.03763E-5 41407 0 5.03525E-4
6-151670244-G-A p.Glu240Lys missense AKAP12 5 82826 6.03675E-5 41413 0 0.00100705
6-151670249-G-A p.Glu241Glu synonymous AKAP12 1 82796 1.20779E-5 41398 0 3.18735E-5
6-151670259-C-T p.Arg245Cys missense AKAP12 34 82686 4.11194E-4 41343 0 9.25099E-4
6-151670273-C-T p.His249His synonymous AKAP12 6 82530 7.27008E-5 41265 0 3.20044E-5
6-151670274-G-A p.Ala250Thr missense AKAP12 3 82506 3.6361E-5 41253 0 2.00058E-5
6-151670275-C-G p.Ala250Gly missense AKAP12 1 82530 1.21168E-5 41265 0 3.3413E-5
6-151670287-C-T p.Pro254Leu missense AKAP12 777 82466 0.00942206 41233 21 0.0159469
6-151670288-C-T p.Pro254Pro synonymous AKAP12 1 82472 1.21253E-5 41236 0 1.67123E-5
6-151670289-C-T p.Pro255Ser missense AKAP12 1 82486 1.21233E-5 41243 0 6.25E-4
6-151670309-A-C p.Ala261Ala synonymous AKAP12 3 82374 3.64193E-5 41187 0 1.67104E-5
6-151670310-G-A p.Val262Met missense AKAP12 1 82386 1.2138E-5 41193 0 NA
6-151670316-G-A p.Glu264Lys missense AKAP12 1 82356 1.21424E-5 41178 0 4.00747E-6
6-151670322-A-G p.Lys266Glu missense AKAP12 1 82398 1.21362E-5 41199 0 8.37156E-6
6-151670329-AAGG-A p.Gly269del disruptive_inframe_deletion AKAP12 1690 82386 0.0205132 41193 95 0.0436723
6-151670338-A-G p.Glu271Gly missense AKAP12 218 82528 0.00264153 41264 1 0.01875
6-151670353-A-G p.Glu276Gly missense AKAP12 1 82730 1.20875E-5 41365 0 8.34669E-6
6-151670356-C-G p.Pro277Arg missense AKAP12 1 82750 1.20846E-5 41375 0 4.17369E-5
6-151670365-C-T p.Ser280Phe missense AKAP12 1 82918 1.20601E-5 41459 0 NA
6-151670371-A-G p.Glu282Gly missense AKAP12 1 82986 1.20502E-5 41493 0 3.9992E-6
6-151670377-C-T p.Pro284Leu missense AKAP12 5 83048 6.02061E-5 41524 0 1.99862E-5
6-151670378-G-A p.Pro284Pro synonymous AKAP12 15 83050 1.80614E-4 41525 0 1.91144E-4
6-151670394-A-T p.Ser290Cys missense AKAP12 2 83202 2.40379E-5 41601 0 NA
6-151670406-T-G p.Ser294Ala missense AKAP12 1 83276 1.20083E-5 41638 0 3.99336E-6
6-151670407-C-G p.Ser294* stop_gained AKAP12 1 83288 1.20065E-5 41644 0 NA
6-151670408-A-C p.Ser294Ser synonymous AKAP12 1 83296 1.20054E-5 41648 0 NA
6-151670418-A-C p.Lys298Gln missense AKAP12 2 83314 2.40056E-5 41657 0 1.59706E-5
6-151670419-A-T p.Lys298Ile missense AKAP12 1 83314 1.20028E-5 41657 0 NA
6-151670421-T-C p.Phe299Leu missense AKAP12 1 83320 1.20019E-5 41660 0 NA
6-151670427-A-G p.Thr301Ala missense AKAP12 2 83324 2.40027E-5 41662 0 NA
6-151670430-C-A p.Gln302Lys missense AKAP12 1 83322 1.20016E-5 41661 0 NA
6-151670430-C-G p.Gln302Glu missense AKAP12 2 83322 2.40033E-5 41661 0 5.18312E-5
6-151670439-G-T p.Ala305Ser missense AKAP12 3 83330 3.60014E-5 41665 0 2.39225E-5
6-151670442-G-A p.Gly306Ser missense AKAP12 2 83330 2.4001E-5 41665 0 6.37146E-5
6-151670444-C-A p.Gly306Gly synonymous AKAP12 10 83334 1.19999E-4 41667 0 1.25119E-4
6-151670448-C-T p.Arg308Cys missense AKAP12 2 83348 2.39958E-5 41674 0 5.00835E-5
6-151670449-G-A p.Arg308His missense AKAP12 85 83346 0.00101985 41673 0 0.003125
6-151670473-C-T p.Pro316Leu missense AKAP12 1 83324 1.20013E-5 41662 0 6.3743E-5
6-151670475-A-G p.Lys317Glu missense AKAP12 2 83326 2.40021E-5 41663 0 3.99186E-6
6-151670477-G-A p.Lys317Lys synonymous AKAP12 3 83332 3.60006E-5 41666 0 3.34141E-5
6-151670490-G-A p.Glu322Lys missense AKAP12 1 83316 1.20025E-5 41658 0 NA
6-151670493-G-A p.Ala323Thr missense AKAP12 8 83310 9.60269E-5 41655 0 6.38988E-5
6-151670501-G-A p.Glu325Glu synonymous AKAP12 1 83268 1.20094E-5 41634 0 NA
6-151670516-A-G p.Gln330Gln synonymous AKAP12 1 83174 1.2023E-5 41587 0 NA
6-151670522-A-G p.Pro332Pro synonymous AKAP12 2 83138 2.40564E-5 41569 0 0.0020141
6-151670523-G-A p.Glu333Lys missense AKAP12 1 83142 1.20276E-5 41571 0 NA
6-151670547-G-A p.Gly341Arg missense AKAP12 2 82952 2.41103E-5 41476 0 4.03096E-5
6-151670568-G-A p.Glu348Lys missense AKAP12 2 82928 2.41173E-5 41464 0 4.1578E-5
6-151670585-C-T p.Ser353Ser synonymous AKAP12 27 82892 3.25725E-4 41446 0 0.00101937
6-151670586-G-A p.Glu354Lys missense AKAP12 85 82898 0.00102536 41449 0 0.00151057
6-151670593-C-T p.Ala356Val missense AKAP12 2 82998 2.4097E-5 41499 0 3.18817E-5
6-151670597-C-G p.His357Gln missense AKAP12 1 83052 1.20406E-5 41526 0 1.66268E-5
6-151670598-C-T p.Pro358Ser missense AKAP12 1 83060 1.20395E-5 41530 0 8.31158E-6
6-151670603-G-A p.Gln359Gln synonymous AKAP12 3 83098 3.6102E-5 41549 0 3.18593E-5
6-151670608-C-T p.Pro361Leu missense AKAP12 1 83100 1.20337E-5 41550 0 3.18654E-5
6-151670609-G-A p.Pro361Pro synonymous AKAP12 1 83114 1.20317E-5 41557 0 8.20425E-6
6-151670618-T-C p.Ser364Ser synonymous AKAP12 1 83138 1.20282E-5 41569 0 4.08844E-6
6-151670624-C-T p.His366His synonymous AKAP12 3 83150 3.60794E-5 41575 0 1.6616E-5
6-151670625-G-A p.Glu367Lys missense AKAP12 42 83158 5.05063E-4 41579 2 0.00206496
6-151670631-C-T p.Arg369Trp missense AKAP12 4 83186 4.8085E-5 41593 0 1.62417E-5
6-151670636-A-G p.Leu370Leu synonymous AKAP12 1 83202 1.20189E-5 41601 0 1.65815E-4
6-151670642-T-A p.Ala372Ala synonymous AKAP12 1 83238 1.20137E-5 41619 0 NA
6-151670650-A-G p.Glu375Gly missense AKAP12 2 83226 2.4031E-5 41613 0 3.18735E-5
6-151670653-A-C p.Lys376Thr missense AKAP12 4 83226 4.80619E-5 41613 0 2.9025E-4
6-151670656-T-C p.Val377Ala missense AKAP12 387 83234 0.00464954 41617 3 0.008125
6-151670670-G-C p.Glu382Gln missense AKAP12 1 83240 1.20135E-5 41620 0 4.01191E-6
6-151670689-C-T p.Ser388Leu missense AKAP12 3 83264 3.603E-5 41632 0 1.27486E-4
6-151670690-G-A p.Ser388Ser synonymous AKAP12 7437 83150 0.0894408 41575 388 0.21375
6-151670690-G-C p.Ser388Ser synonymous AKAP12 2 83230 2.40298E-5 41615 0 7.53617E-5
6-151670694-G-A p.Gly390Arg missense AKAP12 1 83242 1.20132E-5 41621 0 NA
6-151670710-A-C p.Lys395Thr missense AKAP12 2 83250 2.4024E-5 41625 0 4.03203E-5
6-151670712-C-T p.Pro396Ser missense AKAP12 1 83230 1.20149E-5 41615 0 1.6542E-5
6-151670720-G-A p.Pro398Pro synonymous AKAP12 1 83246 1.20126E-5 41623 0 3.18512E-5
6-151670721-T-C p.Leu399Leu synonymous AKAP12 3 83252 3.60352E-5 41626 0 1.65363E-5
6-151670723-G-A p.Leu399Leu synonymous AKAP12 2 83252 2.40234E-5 41626 0 NA
6-151670725-C-T p.Ala400Val missense AKAP12 18 83250 2.16216E-4 41625 0 6.25E-4
6-151670726-G-A p.Ala400Ala synonymous AKAP12 786 83240 0.00944258 41620 8 0.0156093
6-151670728-C-G p.Thr401Arg missense AKAP12 2 83258 2.40217E-5 41629 0 NA
6-151670733-G-T p.Val403Leu missense AKAP12 1 83272 1.20088E-5 41636 0 0.00100705
6-151670750-A-C p.Ile408Ile synonymous AKAP12 1 83330 1.20005E-5 41665 0 NA
6-151670752-A-C p.Glu409Ala missense AKAP12 1 83330 1.20005E-5 41665 0 NA
6-151670752-A-G p.Glu409Gly missense AKAP12 3 83330 3.60014E-5 41665 0 1.6506E-5
6-151670753-A-T p.Glu409Asp missense AKAP12 1 83336 1.19996E-5 41668 0 4.02752E-6
6-151670762-A-G p.Gln412Gln synonymous AKAP12 2 83354 2.3994E-5 41677 0 3.18431E-5
6-151670770-T-C p.Val415Ala missense AKAP12 1 83368 1.1995E-5 41684 0 3.22685E-5
6-151670777-C-T p.Ala417Ala synonymous AKAP12 1 83364 1.19956E-5 41682 0 4.78316E-5
6-151670777-C-G p.Ala417Ala synonymous AKAP12 2 83364 2.39912E-5 41682 0 3.18715E-5
6-151670778-G-A p.Glu418Lys missense AKAP12 2 83370 2.39894E-5 41685 0 2.4726E-5
6-151670779-A-G p.Glu418Gly missense AKAP12 2 83370 2.39894E-5 41685 0 8.24185E-6
6-151670786-C-T p.His420His synonymous AKAP12 2 83376 2.39877E-5 41688 0 NA
6-151670787-G-A p.Val421Ile missense AKAP12 1 83382 1.1993E-5 41691 0 7.95463E-5
6-151670793-A-C p.Thr423Pro missense AKAP12 2 83378 2.39871E-5 41689 0 6.25E-4
6-151670795-C-T p.Thr423Thr synonymous AKAP12 40 83382 4.7972E-4 41691 0 0.00113721
6-151670796-G-A p.Val424Met missense AKAP12 18 83376 2.15889E-4 41688 0 5.76815E-5
6-151670798-G-A p.Val424Val synonymous AKAP12 3 83380 3.59799E-5 41690 0 NA
6-151670800-A-G p.Glu425Gly missense AKAP12 1 83378 1.19936E-5 41689 0 3.97681E-6
6-151670810-C-T p.Thr428Thr synonymous AKAP12 3 83384 3.59781E-5 41692 0 3.9769E-6
6-151670811-G-A p.Glu429Lys missense AKAP12 4 83382 4.7972E-5 41691 0 3.9769E-6
6-151670824-C-T p.Thr433Met missense AKAP12 18 83368 2.1591E-4 41684 0 0.00100705
6-151670825-G-A p.Thr433Thr synonymous AKAP12 5 83370 5.99736E-5 41685 0 1.59236E-4
6-151670831-G-A p.Val435Val synonymous AKAP12 1 83362 1.19959E-5 41681 0 NA
6-151670834-A-G p.Glu436Glu synonymous AKAP12 2 83360 2.39923E-5 41680 0 3.57913E-5
6-151670835-G-A p.Glu437Lys missense AKAP12 3 83358 3.59893E-5 41679 0 3.9769E-6
6-151670835-G-C p.Glu437Gln missense AKAP12 1 83358 1.19964E-5 41679 0 6.25E-4
6-151670858-T-G p.Ala444Ala synonymous AKAP12 1 83326 1.20011E-5 41663 0 NA
6-151670862-G-A p.Glu446Lys missense AKAP12 2 83322 2.40033E-5 41661 0 NA
6-151670872-A-G p.Glu449Gly missense AKAP12 1 83314 1.20028E-5 41657 0 7.95361E-6
6-151670882-A-G p.Ala452Ala synonymous AKAP12 1 83306 1.20039E-5 41653 0 NA
6-151670889-C-G p.Gln455Glu missense AKAP12 1 83282 1.20074E-5 41641 0 8.23968E-6
6-151670889-CA-C p.Gln455fs frameshift AKAP12 1 83282 1.20074E-5 41641 0 NA
6-151670897-T-C p.Ala457Ala synonymous AKAP12 64419 83046 0.775703 41523 25039 0.79
6-151670898-G-A p.Glu458Lys missense AKAP12 1 83274 1.20085E-5 41637 0 3.18492E-5
6-151670901-C-A p.Pro459Thr missense AKAP12 2 83288 2.40131E-5 41644 0 1.64756E-5
6-151670917-T-C p.Val464Ala missense AKAP12 1 83288 1.20065E-5 41644 0 3.18715E-5
6-151670924-C-G p.Leu466Leu synonymous AKAP12 1 83284 1.20071E-5 41642 0 7.95418E-6
6-151670935-G-T p.Cys470Phe missense AKAP12 1 83308 1.20036E-5 41654 0 NA
6-151670942-C-T p.Ser472Ser synonymous AKAP12 2 83304 2.40085E-5 41652 0 0.00100705
6-151670943-G-A p.Gly473Arg missense AKAP12 5 83298 6.00254E-5 41649 0 0.00125
6-151670951-C-T p.Asp475Asp synonymous AKAP12 20 83314 2.40056E-4 41657 0 2.66465E-4
6-151670968-ACCT-A p.Leu482del conservative_inframe_deletion AKAP12 1 83320 1.20019E-5 41660 0 NA
6-151670970-C-G p.Leu482Val missense AKAP12 13 83328 1.5601E-4 41664 0 5.03525E-4
6-151670981-T-A p.Asp485Glu missense AKAP12 1 83344 1.19985E-5 41672 0 NA
6-151670999-A-AC p.Glu494fs frameshift AKAP12 1 83352 1.19973E-5 41676 0 NA
6-151671003-C-T p.Pro493Ser missense AKAP12 2 83362 2.39917E-5 41681 0 NA
6-151671005-C-T p.Pro493Pro synonymous AKAP12 1 83356 1.19967E-5 41678 0 6.25E-4
6-151671011-CGTT-C p.Val497del disruptive_inframe_deletion AKAP12 1 83362 1.19959E-5 41681 0 1.64758E-5
6-151671019-GT-TC p.Ser498Ile missense AKAP12 1 83362 1.19959E-5 41681 0 NA
6-151671024-G-T p.Val500Leu missense AKAP12 2 83358 2.39929E-5 41679 0 3.9764E-6
6-151671032-G-A p.Met502Ile missense AKAP12 1 83348 1.19979E-5 41674 0 1.59055E-5
6-151671043-A-G p.Gln506Arg missense AKAP12 1 83338 1.19993E-5 41669 0 8.23886E-6
6-151671049-G-GCACAGTGGCACGATCTCGGTTCACTGC p.Arg508delinsSerThrValAlaArgSerArgPheThrAla disruptive_inframe_insertion AKAP12 1 83336 1.19996E-5 41668 0 NA
6-151671056-G-A p.Lys510Lys synonymous AKAP12 5 83316 6.00125E-5 41658 0 6.37389E-5
6-151671067-G-T p.Ser514Ile missense AKAP12 1 83300 1.20048E-5 41650 0 NA
6-151671068-T-C p.Ser514Ser synonymous AKAP12 1 83298 1.20051E-5 41649 0 1.64856E-5
6-151671081-C-A p.Leu519Ile missense AKAP12 1 83302 1.20045E-5 41651 0 NA
6-151671095-T-G p.Thr523Thr synonymous AKAP12 1 83276 1.20083E-5 41638 0 8.25096E-6
6-151671113-T-C p.Ser529Ser synonymous AKAP12 3 83266 3.60291E-5 41633 0 4.12739E-5
6-151671116-A-G p.Gly530Gly synonymous AKAP12 7 83266 8.40679E-5 41633 0 6.36983E-5
6-151671149-C-T p.Asp541Asp synonymous AKAP12 11 83226 1.3217E-4 41613 0 9.55422E-5
6-151671149-C-A p.Asp541Glu missense AKAP12 1 83226 1.20155E-5 41613 0 NA
6-151671168-A-T p.Thr548Ser missense AKAP12 5 83232 6.0073E-5 41616 0 1.59215E-5
6-151671178-C-T p.Pro551Leu missense AKAP12 1 83256 1.20111E-5 41628 0 5.03525E-4
6-151671181-CC-GT p.Ala552Gly missense AKAP12 1 83258 1.20109E-5 41629 0 NA
6-151671182-C-T p.Ala552Ala synonymous AKAP12 3258 83220 0.0391492 41610 107 0.084375
6-151671182-C-A p.Ala552Ala synonymous AKAP12 1 83260 1.20106E-5 41630 0 3.18776E-5
6-151671183-G-A p.Asp553Asn missense AKAP12 1 83264 1.201E-5 41632 0 2.47836E-5
6-151671188-T-C p.Ser554Ser synonymous AKAP12 14 83270 1.68128E-4 41635 0 0.00125
6-151671190-C-G p.Pro555Arg missense AKAP12 1 83264 1.201E-5 41632 0 NA
6-151671190-C-T p.Pro555Leu missense AKAP12 3 83264 3.603E-5 41632 0 5.17425E-5
6-151671198-CAGG-C p.Glu560del conservative_inframe_deletion AKAP12 1 83258 1.20109E-5 41629 0 NA
6-151671201-G-A p.Glu559Lys missense AKAP12 1 83250 1.2012E-5 41625 0 NA
6-151671209-A-G p.Gln561Gln synonymous AKAP12 1 83240 1.20135E-5 41620 0 3.97985E-6
6-151671213-G-A p.Gly563Ser missense AKAP12 1 83242 1.20132E-5 41621 0 3.18634E-5
6-151671215-C-T p.Gly563Gly synonymous AKAP12 3 83230 3.60447E-5 41615 0 3.18837E-5
6-151671216-G-A p.Glu564Lys missense AKAP12 16 83236 1.92225E-4 41618 0 8.2646E-5
6-151671223-C-T p.Ser566Phe missense AKAP12 1 83226 1.20155E-5 41613 0 8.26419E-6
6-151671225-G-A p.Ala567Thr missense AKAP12 2 83222 2.40321E-5 41611 1 NA
6-151671225-G-C p.Ala567Pro missense AKAP12 1 83222 1.20161E-5 41611 0 5.04032E-4
6-151671246-G-A p.Glu574Lys missense AKAP12 1 83202 1.20189E-5 41601 0 3.18959E-5
6-151671247-A-C p.Glu574Ala missense AKAP12 1 83202 1.20189E-5 41601 0 1.99035E-5
6-151671249-G-A p.Glu575Lys missense AKAP12 2 83206 2.40367E-5 41603 0 3.58237E-5
6-151671257-G-A p.Thr577Thr synonymous AKAP12 1 83170 1.20236E-5 41585 0 1.19427E-5
6-151671259-G-A p.Cys578Tyr missense AKAP12 10 83166 1.20241E-4 41583 0 7.96235E-5
6-151671261-C-G p.Leu579Val missense AKAP12 1 83170 1.20236E-5 41585 0 7.56466E-5
6-151671277-C-A p.Ala584Asp missense AKAP12 1 83124 1.20302E-5 41562 0 NA
6-151671279-G-A p.Glu585Lys missense AKAP12 1 83124 1.20302E-5 41562 0 3.30508E-5
6-151671310-G-C p.Gly595Ala missense AKAP12 5 83080 6.0183E-5 41540 0 NA
6-151671320-C-T p.Ser598Ser synonymous AKAP12 5 83082 6.01815E-5 41541 0 6.25E-4
6-151671321-G-A p.Asp599Asn missense AKAP12 3 83080 3.61098E-5 41540 0 3.98591E-6
6-151671328-A-T p.Glu601Val missense AKAP12 1 83116 1.20314E-5 41558 0 3.19081E-5
6-151671338-A-G p.Arg604Arg synonymous AKAP12 1 83174 1.2023E-5 41587 0 7.9666E-6
6-151671342-G-A p.Gly606Ser missense AKAP12 4 83190 4.80827E-5 41595 0 3.18796E-5
6-151671343-G-T p.Gly606Val missense AKAP12 2 83186 2.40425E-5 41593 0 NA
6-151671350-T-C p.Thr608Thr synonymous AKAP12 1 83216 1.20169E-5 41608 0 6.38325E-5
6-151671351-C-T p.Pro609Ser missense AKAP12 2 83234 2.40286E-5 41617 0 1.19502E-5
6-151671358-C-T p.Ala611Val missense AKAP12 1 83264 1.201E-5 41632 0 3.98324E-6
6-151671365-C-A p.Phe613Leu missense AKAP12 49 83284 5.88348E-4 41642 0 0.00151057
6-151671365-C-T p.Phe613Phe synonymous AKAP12 2 83284 2.40142E-5 41642 0 6.38121E-5
6-151671366-A-C p.Lys614Gln missense AKAP12 1 83292 1.2006E-5 41646 0 NA
6-151671379-C-T p.Thr618Met missense AKAP12 4 83314 4.80111E-5 41657 0 5.57267E-5
6-151671382-C-A p.Pro619His missense AKAP12 1 83312 1.20031E-5 41656 0 2.48012E-5
6-151671390-C-T p.Arg622Cys missense AKAP12 3 83322 3.60049E-5 41661 0 3.30557E-5
6-151671399-C-T p.Arg625Trp missense AKAP12 9 83322 1.08015E-4 41661 0 7.43556E-5
6-151671399-C-G p.Arg625Gly missense AKAP12 1 83324 1.20013E-5 41662 0 NA
6-151671400-G-A p.Arg625Gln missense AKAP12 1 83334 1.19999E-5 41667 0 4.95688E-5
6-151671406-C-T p.Ser627Leu missense AKAP12 2 83338 2.39987E-5 41669 0 4.95532E-5
6-151671417-A-G p.Lys631Glu missense AKAP12 4 83344 4.79939E-5 41672 0 1.19337E-5
6-151671437-G-A p.Lys637Lys synonymous AKAP12 21 83338 2.51986E-4 41669 0 5.09879E-4
6-151671444-A-G p.Ser640Gly missense AKAP12 1 83320 1.20019E-5 41660 0 8.25191E-6
6-151671446-C-T p.Ser640Ser synonymous AKAP12 1 83310 1.20034E-5 41655 0 8.25246E-6
6-151671447-G-A p.Ala641Thr missense AKAP12 2 83310 2.40067E-5 41655 0 5.77691E-5
6-151671465-G-A p.Glu647Lys missense AKAP12 2 83284 2.40142E-5 41642 0 1.6509E-5
6-151671473-A-G p.Thr649Thr synonymous AKAP12 1 83274 1.20085E-5 41637 0 NA
6-151671507-G-A p.Val661Met missense AKAP12 1 83216 1.20169E-5 41608 0 4.9572E-5
6-151671521-G-C p.Lys665Asn missense AKAP12 2 83178 2.40448E-5 41589 0 NA
6-151671523-C-T p.Pro666Leu missense AKAP12 4 83186 4.8085E-5 41593 0 2.78645E-5
6-151671537-C-T p.Arg671Cys missense AKAP12 2 83168 2.40477E-5 41584 0 1.65297E-5
6-151671538-G-A p.Arg671His missense AKAP12 1 83156 1.20256E-5 41578 0 6.38162E-5
6-151671538-G-T p.Arg671Leu missense AKAP12 2 83156 2.40512E-5 41578 0 NA
6-151671541-A-G p.Lys672Arg missense AKAP12 1 83164 1.20244E-5 41582 0 4.77665E-5
6-151671553-C-T p.Ser676Leu missense AKAP12 1 83152 1.20262E-5 41576 0 NA
6-151671580-T-C p.Val685Ala missense AKAP12 1 83118 1.20311E-5 41559 0 NA
6-151671581-G-A p.Val685Val synonymous AKAP12 7 83120 8.42156E-5 41560 0 0.00151057
6-151671600-G-A p.Ala692Thr missense AKAP12 1 83078 1.20369E-5 41539 0 0.00125
6-151671601-C-T p.Ala692Val missense AKAP12 2 83094 2.40691E-5 41547 0 NA
6-151671601-C-G p.Ala692Gly missense AKAP12 1 83094 1.20346E-5 41547 0 NA
6-151671609-G-A p.Gly695Arg missense AKAP12 1 83068 1.20383E-5 41534 0 NA
6-151671610-G-A p.Gly695Glu missense AKAP12 1 83056 1.20401E-5 41528 0 NA
6-151671624-G-A p.Glu700Lys missense AKAP12 1 83090 1.20351E-5 41545 0 7.96375E-6
6-151671630-G-A p.Gly702Arg missense AKAP12 4 83100 4.81348E-5 41550 0 1.59269E-5
6-151671634-G-T p.Gly703Val missense AKAP12 11 83096 1.32377E-4 41548 0 6.25E-4
6-151671647-G-A p.Met707Ile missense AKAP12 1 83140 1.20279E-5 41570 0 8.27226E-6
6-151671655-A-C p.Asp710Ala missense AKAP12 1 83130 1.20294E-5 41565 0 NA
6-151671677-C-T p.Ala717Ala synonymous AKAP12 2 83156 2.40512E-5 41578 0 3.58237E-5
6-151671678-G-A p.Gly718Arg missense AKAP12 1 83176 1.20227E-5 41588 0 8.27294E-6
6-151671682-A-G p.Lys719Arg missense AKAP12 1 83176 1.20227E-5 41588 0 3.97975E-6
6-151671694-C-T p.Thr723Met missense AKAP12 2 83186 2.40425E-5 41593 0 7.44737E-5
6-151671700-C-T p.Thr725Ile missense AKAP12 2 83172 2.40466E-5 41586 0 1.65483E-5
6-151671701-A-C p.Thr725Thr synonymous AKAP12 1 83174 1.2023E-5 41587 0 NA
6-151671704-C-T p.Asp726Asp synonymous AKAP12 2 83170 2.40471E-5 41585 0 7.44749E-5
6-151671705-G-A p.Gly727Arg missense AKAP12 1 83166 1.20241E-5 41583 0 6.36877E-5
6-151671716-T-C p.Ala730Ala synonymous AKAP12 1 83154 1.20259E-5 41577 0 8.2776E-6
6-151671718-G-T p.Gly731Val missense AKAP12 29 83136 3.48826E-4 41568 0 5.10139E-4
6-151671731-T-C p.His735His synonymous AKAP12 2 83090 2.40703E-5 41545 1 3.31246E-5
6-151671735-C-A p.Pro737Thr missense AKAP12 1 83066 1.20386E-5 41533 0 8.28199E-6
6-151671745-G-C p.Gly740Ala missense AKAP12 2 82988 2.40999E-5 41494 0 NA
6-151671747-A-C p.Ser741Arg missense AKAP12 298 82982 0.00359114 41491 3 0.0225
6-151671757-C-T p.Pro744Leu missense AKAP12 7 82950 8.43882E-5 41475 0 6.38244E-5
6-151671758-G-A p.Pro744Pro synonymous AKAP12 2 82950 2.41109E-5 41475 0 3.58726E-5
6-151671758-G-C p.Pro744Pro synonymous AKAP12 1 82950 1.20555E-5 41475 0 NA
6-151671766-C-A p.Ala747Asp missense AKAP12 1 82926 1.20589E-5 41463 0 NA
6-151671781-A-G p.Glu752Gly missense AKAP12 1 82924 1.20592E-5 41462 0 NA
6-151671792-G-A p.Val756Ile missense AKAP12 1 82944 1.20563E-5 41472 0 1.66199E-5
6-151671799-C-T p.Thr758Ile missense AKAP12 4 82970 4.82102E-5 41485 0 1.66243E-5
6-151671817-G-A p.Arg764Lys missense AKAP12 1 83048 1.20412E-5 41524 0 8.32085E-6
6-151671818-G-A p.Arg764Arg synonymous AKAP12 1 83036 1.2043E-5 41518 0 8.32044E-6
6-151671826-C-T p.Thr767Met missense AKAP12 1 83056 1.20401E-5 41528 0 0.00197919
6-151671827-G-A p.Thr767Thr synonymous AKAP12 2 83058 2.40796E-5 41529 0 8.32598E-5
6-151671842-A-G p.Ser772Ser synonymous AKAP12 2 83114 2.40633E-5 41557 0 3.99243E-6
6-151671865-G-A p.Ser780Asn missense AKAP12 2 83072 2.40755E-5 41536 0 1.66845E-5
6-151671866-C-T p.Ser780Ser synonymous AKAP12 9 83066 1.08348E-4 41533 0 9.97335E-5
6-151671867-G-A p.Glu781Lys missense AKAP12 1 83062 1.20392E-5 41531 0 4.17244E-5
6-151671871-A-C p.Asp782Ala missense AKAP12 2 83056 2.40801E-5 41528 0 3.33873E-5
6-151671875-C-T p.Ser783Ser synonymous AKAP12 2 83060 2.4079E-5 41530 0 6.37227E-5
6-151671888-G-T p.Gly788Cys missense AKAP12 1 82982 1.20508E-5 41491 0 7.97626E-6
6-151671920-C-T p.Pro798Pro synonymous AKAP12 260 82768 0.00314131 41384 1 0.00233499
6-151671921-G-A p.Gly799Ser missense AKAP12 2 82778 2.4161E-5 41389 0 2.51585E-5
6-151671921-G-T p.Gly799Cys missense AKAP12 1 82778 1.20805E-5 41389 0 2.51585E-5
6-151671928-A-T p.Glu801Val missense AKAP12 2 82706 2.4182E-5 41353 0 1.60001E-5
6-151671945-A-G p.Ile807Val missense AKAP12 2 82532 2.4233E-5 41266 0 8.00634E-6
6-151671955-T-G p.Phe810Cys missense AKAP12 1 82414 1.21339E-5 41207 0 3.18735E-5
6-151671964-G-A p.Gly813Glu missense AKAP12 1 82242 1.21592E-5 41121 0 4.00834E-6
6-151671966-C-T p.Arg814* stop_gained AKAP12 1 82188 1.21672E-5 41094 0 4.00718E-6
6-151671985-ATGGGAAACAAGAACAAGCCCCTGT-A p.Gly821_Val828del disruptive_inframe_deletion AKAP12 1 82134 1.21752E-5 41067 0 NA
6-151672012-A-C p.Glu829Ala missense AKAP12 1 82468 1.21259E-5 41234 0 6.3831E-5
6-151672016-C-T p.Asp830Asp synonymous AKAP12 7 82486 8.48629E-5 41243 0 0.0020141
6-151672022-G-C p.Gly832Gly synonymous AKAP12 1 82548 1.21142E-5 41274 0 NA
6-151672037-C-T p.Asn837Asn synonymous AKAP12 3 82766 3.62468E-5 41383 0 5.04032E-4
6-151672037-C-A p.Asn837Lys missense AKAP12 1 82766 1.20823E-5 41383 0 8.3325E-6
6-151672053-G-A p.Val843Ile missense AKAP12 2 82894 2.41272E-5 41447 0 3.18715E-5
6-151672062-G-C p.Val846Leu missense AKAP12 1 82966 1.20531E-5 41483 0 NA
6-151672067-C-T p.Val847Val synonymous AKAP12 1 83002 1.20479E-5 41501 0 7.95874E-6
6-151672069-C-T p.Pro848Leu missense AKAP12 5 83006 6.02366E-5 41503 0 8.27828E-6
6-151672082-T-C p.Tyr852Tyr synonymous AKAP12 2 83056 2.40801E-5 41528 0 3.30748E-5
6-151672113-C-G p.Gln863Glu missense AKAP12 1 83038 1.20427E-5 41519 0 NA
6-151672115-G-A p.Gln863Gln synonymous AKAP12 1 83026 1.20444E-5 41513 0 3.97915E-6
6-151672130-C-T p.Ser868Ser synonymous AKAP12 3 83040 3.61272E-5 41520 1 3.18878E-5
6-151672131-G-A p.Ala869Thr missense AKAP12 1 83046 1.20415E-5 41523 0 3.97874E-5
6-151672133-A-T p.Ala869Ala synonymous AKAP12 2 83066 2.40772E-5 41533 0 1.64867E-5
6-151672142-C-T p.Pro872Pro synonymous AKAP12 1 83066 1.20386E-5 41533 0 3.18959E-5
6-151672143-G-A p.Glu873Lys missense AKAP12 9 83094 1.08311E-4 41547 1 3.97871E-5
6-151672151-G-C p.Lys875Asn missense AKAP12 86 83122 0.00103462 41561 1 6.04677E-4
6-151672158-A-G p.Thr878Ala missense AKAP12 1 83164 1.20244E-5 41582 0 6.36436E-5
6-151672163-G-A p.Glu879Glu synonymous AKAP12 2 83170 2.40471E-5 41585 0 NA
6-151672166-G-A p.Val880Val synonymous AKAP12 3 83172 3.60698E-5 41586 0 NA
6-151672173-G-A p.Glu883Lys missense AKAP12 1 83186 1.20213E-5 41593 0 NA
6-151672181-C-T p.Ser885Ser synonymous AKAP12 1 83200 1.20192E-5 41600 0 3.29609E-5
6-151672182-G-A p.Glu886Lys missense AKAP12 3 83198 3.60586E-5 41599 0 1.19328E-5
6-151672185-A-T p.Ser887Cys missense AKAP12 1831 83174 0.0220141 41587 21 0.0280008
6-151672201-T-A p.Met892Lys missense AKAP12 1 83224 1.20158E-5 41612 0 NA
6-151672211-T-C p.Ala895Ala synonymous AKAP12 2 83212 2.4035E-5 41606 0 3.97877E-6
6-151672216-C-T p.Ala897Val missense AKAP12 16 83218 1.92266E-4 41609 0 0.00100806
6-151672220-C-T p.Asp898Asp synonymous AKAP12 1 83212 1.20175E-5 41606 0 6.37105E-5
6-151672221-G-C p.Gly899Arg missense AKAP12 1 83224 1.20158E-5 41612 0 NA
6-151672225-C-T p.Thr900Met missense AKAP12 9 83218 1.0815E-4 41609 0 0.00100806
6-151672229-G-A p.Arg901Arg synonymous AKAP12 2 83218 2.40333E-5 41609 0 3.18634E-5
6-151672230-G-T p.Ala902Ser missense AKAP12 1 83216 1.20169E-5 41608 0 3.97769E-6
6-151672237-C-T p.Thr904Ile missense AKAP12 3 83250 3.6036E-5 41625 0 1.98891E-5
6-151672240-T-A p.Ile905Asn missense AKAP12 1 83280 1.20077E-5 41640 0 NA
6-151672260-T-G p.Ser912Ala missense AKAP12 1 83280 1.20077E-5 41640 0 NA
6-151672285-A-G p.Glu920Gly missense AKAP12 8176 83220 0.0982456 41610 452 0.2175
6-151672299-G-C p.Val925Leu missense AKAP12 1 83314 1.20028E-5 41657 0 2.06315E-4
6-151672301-AGAAGCT-A p.Glu928_Ala929del disruptive_inframe_deletion AKAP12 1 83310 1.20034E-5 41655 0 3.98083E-6
6-151672312-C-T p.Ala929Val missense AKAP12 1 83298 1.20051E-5 41649 0 6.37064E-5
6-151672313-C-T p.Ala929Ala synonymous AKAP12 6 83306 7.20236E-5 41653 0 1.15531E-4
6-151672338-G-A p.Glu938Lys missense AKAP12 4 83278 4.80319E-5 41639 0 NA
6-151672354-CAGA-C p.Glu946del conservative_inframe_deletion AKAP12 7 83236 8.40982E-5 41618 0 3.1837E-5
6-151672362-G-A p.Glu946Lys missense AKAP12 1 83250 1.2012E-5 41625 0 7.95786E-6
6-151672365-C-T p.Pro947Ser missense AKAP12 1 83238 1.20137E-5 41619 0 8.25232E-6
6-151672372-C-T p.Thr949Met missense AKAP12 4 83222 4.80642E-5 41611 0 3.30093E-5
6-151672373-G-A p.Thr949Thr synonymous AKAP12 12 83230 1.44179E-4 41615 0 5.41332E-4
6-151672379-T-C p.Thr951Thr synonymous AKAP12 2 83236 2.40281E-5 41618 0 3.30049E-5
6-151672388-G-A p.Leu954Leu synonymous AKAP12 4 83246 4.80504E-5 41623 0 NA
6-151672399-G-C p.Arg958Thr missense AKAP12 17 83244 2.04219E-4 41622 0 2.80533E-4
6-151672407-C-T p.Arg961Trp missense AKAP12 7 83242 8.40922E-5 41621 0 6.36583E-5
6-151672412-C-T p.Gly962Gly synonymous AKAP12 7 83230 8.41043E-5 41615 0 3.13407E-4
6-151672413-G-A p.Asp963Asn missense AKAP12 23 83232 2.76336E-4 41616 0 0.00226115
6-151672417-C-G p.Thr964Arg missense AKAP12 2 83230 2.40298E-5 41615 0 3.97798E-6
6-151672422-G-A p.Val966Ile missense AKAP12 5 83236 6.00702E-5 41618 0 1.59286E-4
6-151672431-G-A p.Ala969Thr missense AKAP12 2 83224 2.40315E-5 41612 0 8.2447E-6
6-151672432-C-T p.Ala969Val missense AKAP12 4 83228 4.80607E-5 41614 0 1.91131E-4
6-151672433-G-T p.Ala969Ala synonymous AKAP12 2 83226 2.4031E-5 41613 0 3.97766E-6
6-151672433-G-A p.Ala969Ala synonymous AKAP12 3 83226 3.60464E-5 41613 0 3.18471E-5
6-151672446-G-A p.Glu974Lys missense AKAP12 3 83212 3.60525E-5 41606 0 3.18492E-5
6-151672452-G-A p.Val976Met missense AKAP12 2 83208 2.40361E-5 41604 0 3.18492E-5
6-151672452-G-C p.Val976Leu missense AKAP12 1 83208 1.20181E-5 41604 0 NA
6-151672473-G-C p.Gly983Arg missense AKAP12 1 83184 1.20215E-5 41592 0 NA
6-151672478-A-C p.Pro984Pro synonymous AKAP12 2 83198 2.4039E-5 41599 0 3.97807E-6
6-151672479-T-C p.Leu985Leu synonymous AKAP12 3 83200 3.60577E-5 41600 0 7.95621E-6
6-151672487-C-T p.Ala987Ala synonymous AKAP12 3 83166 3.60724E-5 41583 0 3.97855E-5
6-151672488-G-T p.Glu988* stop_gained AKAP12 1 83166 1.20241E-5 41583 0 NA
6-151672497-A-G p.Thr991Ala missense AKAP12 3 83178 3.60672E-5 41589 0 1.98916E-5
6-151672498-C-T p.Thr991Ile missense AKAP12 1 83174 1.2023E-5 41587 0 3.97842E-6
6-151672499-C-T p.Thr991Thr synonymous AKAP12 7 83180 8.41548E-5 41590 0 1.23715E-4
6-151672500-G-A p.Glu992Lys missense AKAP12 21 83176 2.52477E-4 41588 0 0.00125
6-151672504-C-G p.Ala993Gly missense AKAP12 1 83180 1.20221E-5 41590 0 NA
6-151672508-T-G p.Ser994Ser synonymous AKAP12 1 83172 1.20233E-5 41586 0 NA
6-151672515-G-C p.Glu997Gln missense AKAP12 1 83166 1.20241E-5 41583 0 8.25042E-6
6-151672537-C-T p.Ser1004Leu missense AKAP12 10 83148 1.20267E-4 41574 0 9.55231E-5
6-151672541-A-G p.Ala1005Ala synonymous AKAP12 2 83150 2.40529E-5 41575 0 1.194E-5
6-151672543-T-C p.Val1006Ala missense AKAP12 1 83122 1.20305E-5 41561 0 NA
6-151672549-A-G p.Gln1008Arg missense AKAP12 2 83130 2.40587E-5 41565 0 1.65109E-5
6-151672549-A-T p.Gln1008Leu missense AKAP12 2 83130 2.40587E-5 41565 0 3.1837E-5
6-151672553-A-G p.Leu1009Leu synonymous AKAP12 3 83122 3.60915E-5 41561 0 7.16532E-5
6-151672555-C-G p.Thr1010Ser missense AKAP12 1 83122 1.20305E-5 41561 0 3.98124E-6
6-151672570-C-T p.Thr1015Ile missense AKAP12 1 83098 1.2034E-5 41549 0 NA
6-151672573-C-T p.Thr1016Ile missense AKAP12 123 83100 0.00148014 41550 0 0.0014971
6-151672580-G-A p.Glu1018Glu synonymous AKAP12 1 83078 1.20369E-5 41539 0 7.96286E-6
6-151672585-C-G p.Thr1020Ser missense AKAP12 1 83050 1.20409E-5 41525 0 NA
6-151672588-C-T p.Pro1021Leu missense AKAP12 3 83056 3.61202E-5 41528 0 3.30639E-5
6-151672589-G-A p.Pro1021Pro synonymous AKAP12 11 83050 1.3245E-4 41525 0 1.31448E-4
6-151672598-G-A p.Glu1024Glu synonymous AKAP12 1 83036 1.2043E-5 41518 0 1.59195E-4
6-151672611-G-A p.Val1029Ile missense AKAP12 1 82974 1.2052E-5 41487 0 3.1841E-5
6-151672623-GAAGAGC-G p.Gln1035_Glu1036del conservative_inframe_deletion AKAP12 1 82976 1.20517E-5 41488 0 1.65514E-5
6-151672638-C-T p.Arg1038Trp missense AKAP12 48 82878 5.79165E-4 41439 0 0.00151057
6-151672639-G-A p.Arg1038Gln missense AKAP12 19 82872 2.29269E-4 41436 0 4.77585E-4
6-151672645-A-T p.Gln1040Leu missense AKAP12 31 82868 3.74089E-4 41434 0 0.00503525
6-151672653-C-T p.Leu1043Phe missense AKAP12 1 82802 1.2077E-5 41401 0 7.97277E-6
6-151672671-A-G p.Lys1049Glu missense AKAP12 1 82652 1.20989E-5 41326 0 NA
6-151672684-A-C p.Glu1053Ala missense AKAP12 2 82466 2.42524E-5 41233 0 3.9887E-6
6-151672686-T-A p.Ser1054Thr missense AKAP12 2 82350 2.42866E-5 41175 0 3.18756E-5
6-151672689-C-G p.Gln1055Glu missense AKAP12 3 82384 3.64148E-5 41192 0 3.18593E-5
6-151672696-C-G p.Pro1057Arg missense AKAP12 1 82256 1.21572E-5 41128 0 6.36983E-5
6-151672697-T-A p.Pro1057Pro synonymous AKAP12 1 82244 1.21589E-5 41122 0 6.37146E-5
6-151672699-G-A p.Gly1058Asp missense AKAP12 2 82160 2.43427E-5 41080 0 9.11517E-5
6-151672700-C-T p.Gly1058Gly synonymous AKAP12 6 82146 7.30407E-5 41073 0 NA
6-151672703-C-A p.Thr1059Thr synonymous AKAP12 2 82128 2.43522E-5 41064 0 1.59307E-4
6-151672703-C-T p.Thr1059Thr synonymous AKAP12 1 82128 1.21761E-5 41064 0 3.99147E-5
6-151672718-T-G p.Asp1064Glu missense AKAP12 1 81942 1.22038E-5 40971 0 NA
6-151672738-G-C p.Arg1071Thr missense AKAP12 1 81774 1.22288E-5 40887 0 3.18471E-5
6-151672739-A-G p.Arg1071Arg synonymous AKAP12 1 81750 1.22324E-5 40875 0 NA
6-151672743-G-A p.Glu1073Lys missense AKAP12 1 81770 1.22294E-5 40885 0 NA
6-151672764-C-G p.Gln1080Glu missense AKAP12 2 81644 2.44966E-5 40822 0 3.18634E-5
6-151672768-C-A p.Ala1081Asp missense AKAP12 9 81646 1.10232E-4 40823 0 0.00100705
6-151672772-A-G p.Glu1082Glu synonymous AKAP12 74 81654 9.06263E-4 40827 0 0.00151057
6-151672774-C-T p.Ala1083Val missense AKAP12 84 81632 0.00102901 40816 1 0.00251762
6-151672775-G-A p.Ala1083Ala synonymous AKAP12 1 81636 1.22495E-5 40818 0 3.18471E-5
6-151672776-T-A p.Ser1084Thr missense AKAP12 2 81630 2.45008E-5 40815 0 NA
6-151672777-C-T p.Ser1084Leu missense AKAP12 6 81630 7.35024E-5 40815 0 0.00100806
6-151672795-C-T p.Thr1090Met missense AKAP12 7 81710 8.56688E-5 40855 0 1.59276E-4
6-151672802-A-G p.Val1092Val synonymous AKAP12 4 81778 4.89129E-5 40889 0 3.31521E-5
6-151672812-G-A p.Val1096Ile missense AKAP12 2982 81824 0.0364441 40912 95 0.08375
6-151672839-C-T p.Pro1105Ser missense AKAP12 3 82430 3.63945E-5 41215 0 NA
6-151672840-C-A p.Pro1105His missense AKAP12 1 82506 1.21203E-5 41253 0 NA
6-151672857-G-A p.Val1111Met missense AKAP12 3 82780 3.62406E-5 41390 0 3.97864E-6
6-151672857-G-T p.Val1111Leu missense AKAP12 1 82780 1.20802E-5 41390 0 NA
6-151672898-T-G p.Pro1124Pro synonymous AKAP12 1 83214 1.20172E-5 41607 0 NA
6-151672910-G-C p.Glu1128Asp missense AKAP12 2 83232 2.40292E-5 41616 0 3.18552E-5
6-151672914-A-G p.Ile1130Val missense AKAP12 21 83230 2.52313E-4 41615 0 0.00100705
6-151672917-G-C p.Glu1131Gln missense AKAP12 6 83222 7.20963E-5 41611 0 6.36385E-5
6-151672921-C-T p.Ser1132Phe missense AKAP12 2 83224 2.40315E-5 41612 0 NA
6-151672923-A-C p.Ser1133Arg missense AKAP12 2 83232 2.40292E-5 41616 0 1.64872E-5
6-151672936-C-T p.Thr1137Ile missense AKAP12 2 83232 2.40292E-5 41616 0 NA
6-151672948-C-A p.Ala1141Asp missense AKAP12 3 83218 3.60499E-5 41609 0 4.94527E-5
6-151672949-C-T p.Ala1141Ala synonymous AKAP12 2 83222 2.40321E-5 41611 0 8.24212E-6
6-151672950-G-A p.Glu1142Lys missense AKAP12 27 83218 3.24449E-4 41609 0 2.55021E-4
6-151672952-A-C p.Glu1142Asp missense AKAP12 1 83220 1.20163E-5 41610 0 2.38658E-5
6-151672959-GC-AA p.Ala1145Asn missense AKAP12 1 83214 1.20172E-5 41607 0 NA
6-151672964-G-A p.Gly1146Gly synonymous AKAP12 25 83194 3.00502E-4 41597 0 5.64873E-4
6-151672974-CAGG-C p.Glu1151del conservative_inframe_deletion AKAP12 4 83214 4.80688E-5 41607 0 3.58007E-5
6-151672995-G-C p.Ala1157Pro missense AKAP12 3 83196 3.60594E-5 41598 0 0.00151057
6-151673000-C-A p.Ile1158Ile synonymous AKAP12 1 83222 1.20161E-5 41611 0 1.1935E-5
6-151673002-C-T p.Pro1159Leu missense AKAP12 1 83220 1.20163E-5 41610 0 NA
6-151673004-C-T p.Pro1160Ser missense AKAP12 1 83206 1.20184E-5 41603 0 6.37796E-5
6-151673005-C-T p.Pro1160Leu missense AKAP12 1 83214 1.20172E-5 41607 0 NA
6-151673006-T-C p.Pro1160Pro synonymous AKAP12 1 83214 1.20172E-5 41607 0 3.97804E-6
6-151673011-C-T p.Ser1162Leu missense AKAP12 1 83236 1.2014E-5 41618 0 2.47243E-5
6-151673014-T-C p.Val1163Ala missense AKAP12 1 83236 1.2014E-5 41618 0 8.24158E-6
6-151673025-A-T p.Thr1167Ser missense AKAP12 1 83234 1.20143E-5 41617 0 NA
6-151673028-G-A p.Asp1168Asn missense AKAP12 1 83244 1.20129E-5 41622 0 NA
6-151673031-A-G p.Ser1169Gly missense AKAP12 2 83254 2.40229E-5 41627 0 NA
6-151673039-T-C p.Thr1171Thr synonymous AKAP12 7 83248 8.40861E-5 41624 0 5.17121E-5
6-151673054-C-T p.Pro1176Pro synonymous AKAP12 17 83232 2.04248E-4 41616 0 4.78072E-4
6-151673060-C-T p.Ala1178Ala synonymous AKAP12 3 83254 3.60343E-5 41627 0 3.58046E-5
6-151673061-G-A p.Asp1179Asn missense AKAP12 2 83252 2.40234E-5 41626 0 3.18613E-5
6-151673069-C-T p.Asp1181Asp synonymous AKAP12 2 83246 2.40252E-5 41623 0 6.37227E-5
6-151673070-G-A p.Ala1182Thr missense AKAP12 1216 83224 0.0146112 41612 17 0.063125
6-151673074-C-G p.Pro1183Arg missense AKAP12 3490 83198 0.0419481 41599 99 0.0410661
6-151673076-G-C p.Gly1184Arg missense AKAP12 2 83246 2.40252E-5 41623 0 NA
6-151673093-C-T p.Asp1189Asp synonymous AKAP12 4 83242 4.80527E-5 41621 0 0.00151057
6-151673094-G-A p.Glu1190Lys missense AKAP12 1 83244 1.20129E-5 41622 0 3.18593E-5
6-151673102-G-A p.Val1192Val synonymous AKAP12 1 83250 1.2012E-5 41625 0 2.47525E-5
6-151673108-C-G p.Ile1194Met missense AKAP12 1 83270 1.20091E-5 41635 0 NA
6-151673114-G-A p.Glu1196Glu synonymous AKAP12 1 83266 1.20097E-5 41633 0 NA
6-151673123-G-A p.Glu1199Glu synonymous AKAP12 4 83278 4.80319E-5 41639 0 1.19364E-5
6-151673126-C-T p.Val1200Val synonymous AKAP12 8 83268 9.60753E-5 41634 0 6.36659E-5
6-151673127-G-A p.Ala1201Thr missense AKAP12 2 83254 2.40229E-5 41627 0 NA
6-151673131-C-G p.Ser1202Cys missense AKAP12 1 83272 1.20088E-5 41636 0 3.18674E-5
6-151673131-C-T p.Ser1202Phe missense AKAP12 2 83272 2.40177E-5 41636 0 8.25655E-6
6-151673135-T-A p.Gly1203Gly synonymous AKAP12 1 83242 1.20132E-5 41621 0 NA
6-151673138-C-A p.Thr1204Thr synonymous AKAP12 1 83236 1.2014E-5 41618 0 6.37714E-5
6-151673145-G-C p.Gly1207Arg missense AKAP12 1 83236 1.2014E-5 41618 0 3.18593E-5
6-151673150-C-T p.Gly1208Gly synonymous AKAP12 1 83202 1.20189E-5 41601 0 NA
6-151673172-G-T p.Ala1216Ser missense AKAP12 2 83158 2.40506E-5 41579 0 1.98959E-5
6-151673174-A-C p.Ala1216Ala synonymous AKAP12 4 83146 4.81081E-5 41573 0 3.9788E-6
6-151673179-A-T p.Lys1218Ile missense AKAP12 48 83162 5.77187E-4 41581 0 0.00171084
6-151673181-G-A p.Glu1219Lys missense AKAP12 18 83176 2.16409E-4 41588 0 3.18532E-5
6-151673201-C-T p.Ser1225Ser synonymous AKAP12 1 83162 1.20247E-5 41581 0 NA
6-151673206-T-G p.Phe1227Cys missense AKAP12 1 83140 1.20279E-5 41570 0 3.18593E-5
6-151673212-T-C p.Phe1229Ser missense AKAP12 4 83134 4.81151E-5 41567 0 1.65166E-5
6-151673224-C-A p.Thr1233Asn missense AKAP12 1 83186 1.20213E-5 41593 0 NA
6-151673228-A-C p.Lys1234Asn missense AKAP12 3 83202 3.60568E-5 41601 0 1.65087E-5
6-151673231-A-G p.Glu1235Glu synonymous AKAP12 1 83194 1.20201E-5 41597 0 3.18532E-5
6-151673242-T-C p.Met1239Thr missense AKAP12 1 83204 1.20187E-5 41602 0 4.12473E-5
6-151673256-G-A p.Glu1244Lys missense AKAP12 1 83200 1.20192E-5 41600 0 NA
6-151673259-C-T p.His1245Tyr missense AKAP12 1 83186 1.20213E-5 41593 0 6.37227E-5
6-151673271-G-A p.Glu1249Lys missense AKAP12 2 83226 2.4031E-5 41613 0 3.18552E-5
6-151673280-G-A p.Val1252Met missense AKAP12 1 83240 1.20135E-5 41620 0 NA
6-151673287-CTG-C p.Val1255fs frameshift AKAP12 1 83252 1.20117E-5 41626 0 3.97731E-6
6-151673288-T-C p.Thr1254Thr synonymous AKAP12 2 83258 2.40217E-5 41629 0 8.24022E-6
6-151673289-G-A p.Val1255Ile missense AKAP12 4 83264 4.804E-5 41632 0 3.18613E-5
6-151673294-C-T p.Ser1256Ser synonymous AKAP12 1 83266 1.20097E-5 41633 0 NA
6-151673295-A-G p.Ile1257Val missense AKAP12 1 83274 1.20085E-5 41637 0 NA
6-151673297-T-G p.Ile1257Met missense AKAP12 1 83278 1.2008E-5 41639 0 NA
6-151673303-A-C p.Ser1259Ser synonymous AKAP12 24 83288 2.88157E-4 41644 2 0.0040282
6-151673313-G-A p.Gly1263Arg missense AKAP12 1 83308 1.20036E-5 41654 0 3.97687E-6
6-151673319-C-G p.Gln1265Glu missense AKAP12 1 83316 1.20025E-5 41658 0 NA
6-151673342-T-C p.Asp1272Asp synonymous AKAP12 1 83336 1.19996E-5 41668 0 3.18613E-5
6-151673347-A-G p.Lys1274Arg missense AKAP12 1 83332 1.20002E-5 41666 0 8.23927E-6
6-151673356-A-G p.Asp1277Gly missense AKAP12 1 83330 1.20005E-5 41665 0 7.95323E-6
6-151673357-C-T p.Asp1277Asp synonymous AKAP12 3 83330 3.60014E-5 41665 0 6.37227E-5
6-151673359-T-G p.Val1278Gly missense AKAP12 1 83328 1.20008E-5 41664 0 3.97662E-6
6-151673369-C-T p.Phe1281Phe synonymous AKAP12 19 83322 2.28031E-4 41661 0 6.88015E-4
6-151673370-G-A p.Glu1282Lys missense AKAP12 2 83322 2.40033E-5 41661 0 3.20287E-5
6-151673382-G-A p.Gly1286Arg missense AKAP12 13 83322 1.56021E-4 41661 0 3.18593E-4
6-151673388-A-G p.Ile1288Val missense AKAP12 1 83320 1.20019E-5 41660 0 8.23845E-6
6-151673393-C-T p.Asp1289Asp synonymous AKAP12 1 83332 1.20002E-5 41666 0 6.37267E-5
6-151673395-C-A p.Thr1290Lys missense AKAP12 1 83332 1.20002E-5 41666 0 NA
6-151673403-A-G p.Thr1293Ala missense AKAP12 1 83332 1.20002E-5 41666 0 3.97709E-6
6-151673404-C-T p.Thr1293Ile missense AKAP12 1 83332 1.20002E-5 41666 0 8.23859E-6
6-151673412-C-T p.Arg1296Trp missense AKAP12 1 83318 1.20022E-5 41659 0 3.29533E-5
6-151673412-C-A p.Arg1296Arg synonymous AKAP12 1 83318 1.20022E-5 41659 0 NA
6-151673413-G-T p.Arg1296Leu missense AKAP12 427 83314 0.00512519 41657 2 0.00618071
6-151673413-G-A p.Arg1296Gln missense AKAP12 1 83320 1.20019E-5 41660 0 1.59077E-5
6-151673449-G-A p.Gly1308Glu missense AKAP12 1 83314 1.20028E-5 41657 0 NA
6-151673451-A-G p.Thr1309Ala missense AKAP12 14 83308 1.68051E-4 41654 0 4.7719E-5
6-151673454-G-A p.Glu1310Lys missense AKAP12 1 83308 1.20036E-5 41654 0 NA
6-151673474-GGAT-G p.Asp1318del disruptive_inframe_deletion AKAP12 1 83294 1.20057E-5 41647 0 NA
6-151673475-G-A p.Asp1317Asn missense AKAP12 3 83292 3.60179E-5 41646 0 1.64758E-5
6-151673501-C-T p.His1325His synonymous AKAP12 2 83242 2.40263E-5 41621 0 NA
6-151673503-C-A p.Ala1326Asp missense AKAP12 3 83246 3.60378E-5 41623 0 NA
6-151673507-G-A p.Lys1327Lys synonymous AKAP12 3 83240 3.60404E-5 41620 0 1.5908E-5
6-151673512-C-T p.Pro1329Leu missense AKAP12 4 83250 4.8048E-5 41625 0 5.03525E-4
6-151673521-C-T p.Pro1332Leu missense AKAP12 102 83232 0.00122549 41616 0 0.01
6-151673522-C-T p.Pro1332Pro synonymous AKAP12 3 83226 3.60464E-5 41613 0 1.59266E-4
6-151673525-G-A p.Val1333Val synonymous AKAP12 1 83228 1.20152E-5 41614 0 NA
6-151673526-G-A p.Glu1334Lys missense AKAP12 1 83226 1.20155E-5 41613 0 NA
6-151673533-A-G p.Glu1336Gly missense AKAP12 1 83222 1.20161E-5 41611 0 3.97804E-6
6-151673533-A-AGG p.Met1337fs frameshift AKAP12 1 83222 1.20161E-5 41611 0 8.24688E-6
6-151673546-A-G p.Gln1340Gln synonymous AKAP12 1 83246 1.20126E-5 41623 0 NA
6-151673550-G-A p.Glu1342Lys missense AKAP12 1 83242 1.20132E-5 41621 0 1.98929E-5
6-151673558-G-A p.Glu1344Glu synonymous AKAP12 2 83266 2.40194E-5 41633 0 3.9781E-6
6-151673562-A-G p.Thr1346Ala missense AKAP12 2 83276 2.40165E-5 41638 0 0.00100705
6-151673577-A-G p.Thr1351Ala missense AKAP12 2 83294 2.40113E-5 41647 0 1.86966E-4
6-151673578-C-T p.Thr1351Ile missense AKAP12 2 83292 2.40119E-5 41646 0 7.95659E-6
6-151673589-G-A p.Glu1355Lys missense AKAP12 8434 83194 0.101378 41597 497 0.21375
6-151673601-G-A p.Glu1359Lys missense AKAP12 2 83314 2.40056E-5 41657 0 NA
6-151673606-C-T p.His1360His synonymous AKAP12 2 83304 2.40085E-5 41652 0 6.60001E-5
6-151673620-C-A p.Thr1365Asn missense AKAP12 1 83304 1.20042E-5 41652 0 NA
6-151673630-A-G p.Glu1368Glu synonymous AKAP12 79 83302 9.48357E-4 41651 0 0.004375
6-151673634-G-A p.Val1370Ile missense AKAP12 3 83296 3.60161E-5 41648 0 NA
6-151673634-G-C p.Val1370Leu missense AKAP12 1 83296 1.20054E-5 41648 0 NA
6-151673635-T-G p.Val1370Gly missense AKAP12 1 83290 1.20062E-5 41645 0 3.97785E-6
6-151673637-A-C p.Ser1371Arg missense AKAP12 3 83294 3.6017E-5 41647 0 7.9552E-6
6-151673657-A-G p.Thr1377Thr synonymous AKAP12 1 83274 1.20085E-5 41637 0 3.97763E-6
6-151673658-G-A p.Val1378Met missense AKAP12 2 83268 2.40188E-5 41634 0 NA
6-151673663-T-A p.Asn1379Lys missense AKAP12 13 83264 1.5613E-4 41632 0 5.41815E-4
6-151673664-G-A p.Val1380Met missense AKAP12 1 83254 1.20114E-5 41627 0 3.18593E-5
6-151673670-A-G p.Ile1382Val missense AKAP12 4 83246 4.80504E-5 41623 0 NA
6-151673678-T-C p.Asp1384Asp synonymous AKAP12 6 83230 7.20894E-5 41615 0 5.77586E-5
6-151673678-T-A p.Asp1384Glu missense AKAP12 1 83230 1.20149E-5 41615 0 NA
6-151673681-G-A p.Gly1385Gly synonymous AKAP12 278 83212 0.00334086 41606 0 0.00476906
6-151673681-G-T p.Gly1385Gly synonymous AKAP12 4 83214 4.80688E-5 41607 0 1.47196E-4
6-151673686-A-T p.Lys1387Met missense AKAP12 9 83206 1.08165E-4 41603 0 6.37105E-5
6-151673702-G-A p.Leu1392Leu synonymous AKAP12 2 83140 2.40558E-5 41570 0 NA
6-151673713-C-T p.Pro1396Leu missense AKAP12 1 83098 1.2034E-5 41549 0 5.77825E-5
6-151673721-T-G p.Cys1399Gly missense AKAP12 1 83096 1.20343E-5 41548 0 NA
6-151673724-C-T p.Leu1400Leu synonymous AKAP12 3 83102 3.61002E-5 41551 0 1.19439E-5
6-151673727-G-A p.Gly1401Ser missense AKAP12 1 83076 1.20372E-5 41538 0 2.38874E-5
6-151673731-A-G p.Gln1402Arg missense AKAP12 2 83090 2.40703E-5 41545 0 NA
6-151673743-T-C p.Val1406Ala missense AKAP12 1 83108 1.20325E-5 41554 0 7.96261E-6
6-151673758-A-T p.Gln1411Leu missense AKAP12 1 83134 1.20288E-5 41567 0 NA
6-151673760-G-A p.Val1412Ile missense AKAP12 2 83142 2.40552E-5 41571 0 8.25655E-6
6-151673771-T-C p.Ser1415Ser synonymous AKAP12 1 83182 1.20218E-5 41591 0 NA
6-151673779-C-T p.Ser1418Leu missense AKAP12 1 83190 1.20207E-5 41595 0 3.97966E-6
6-151673787-C-G p.Leu1421Val missense AKAP12 1 83192 1.20204E-5 41596 0 9.55475E-5
6-151673793-G-A p.Ala1423Thr missense AKAP12 1 83196 1.20198E-5 41598 0 NA
6-151673795-G-A p.Ala1423Ala synonymous AKAP12 2 83192 2.40408E-5 41596 0 3.18512E-5
6-151673848-G-A p.Gly1441Asp missense AKAP12 1 83126 1.20299E-5 41563 0 6.76536E-5
6-151673856-T-C p.Leu1444Leu synonymous AKAP12 1 83102 1.20334E-5 41551 0 9.5584E-5
6-151673868-G-C p.Gly1448Arg missense AKAP12 1 83086 1.20357E-5 41543 0 8.25955E-6
6-151673871-G-A p.Ala1449Thr missense AKAP12 610 83060 0.00734409 41530 10 0.0163355
6-151673877-T-C p.Leu1451Leu synonymous AKAP12 1 83080 1.20366E-5 41540 0 1.65221E-5
6-151673894-A-G p.Lys1456Lys synonymous AKAP12 1 83108 1.20325E-5 41554 0 NA
6-151673909-T-G p.Asn1461Lys missense AKAP12 3 83172 3.60698E-5 41586 0 3.18817E-5
6-151673921-C-T p.Ala1465Ala synonymous AKAP12 1 83196 1.20198E-5 41598 0 3.1841E-5
6-151673925-C-T p.His1467Tyr missense AKAP12 1 83222 1.20161E-5 41611 0 4.38038E-5
6-151673929-C-G p.Pro1468Arg missense AKAP12 1 83236 1.2014E-5 41618 0 7.96261E-6
6-151673941-C-G p.Ala1472Gly missense AKAP12 1 83244 1.20129E-5 41622 0 1.19356E-5
6-151673951-A-C p.Thr1475Thr synonymous AKAP12 2 83264 2.402E-5 41632 0 NA
6-151673957-C-T p.Pro1477Pro synonymous AKAP12 6 83254 7.20686E-5 41627 0 1.23754E-4
6-151673962-G-A p.Cys1479Tyr missense AKAP12 1 83272 1.20088E-5 41636 0 NA
6-151673972-A-G p.Lys1482Lys synonymous AKAP12 1 83262 1.20103E-5 41631 0 8.24294E-6
6-151673982-G-C p.Val1486Leu missense AKAP12 1 83256 1.20111E-5 41628 0 NA
6-151673989-T-C p.Val1488Ala missense AKAP12 5 83270 6.00456E-5 41635 0 1.19298E-5
6-151673996-T-C p.Ala1490Ala synonymous AKAP12 2 83282 2.40148E-5 41641 0 3.18492E-5
6-151674019-C-A p.Ser1498Tyr missense AKAP12 3 83330 3.60014E-5 41665 0 NA
6-151674021-G-T p.Asp1499Tyr missense AKAP12 1 83330 1.20005E-5 41665 0 NA
6-151674021-G-A p.Asp1499Asn missense AKAP12 1 83330 1.20005E-5 41665 0 NA
6-151674024-C-A p.Leu1500Met missense AKAP12 2 83332 2.40004E-5 41666 0 8.24144E-6
6-151674025-T-C p.Leu1500Pro missense AKAP12 3 83332 3.60006E-5 41666 0 1.98845E-5
6-151674028-A-G p.Glu1501Gly missense AKAP12 2 83332 2.40004E-5 41666 0 7.95374E-6
6-151674038-A-AACC p.Thr1506dup disruptive_inframe_insertion AKAP12 1 83350 1.19976E-5 41675 0 NA
6-151674040-C-G p.Thr1505Ser missense AKAP12 2 83346 2.39964E-5 41673 0 3.18431E-5
6-151674043-C-T p.Thr1506Ile missense AKAP12 30 83352 3.59919E-4 41676 0 5.03525E-4
6-151674053-G-A p.Lys1509Lys synonymous AKAP12 1 83356 1.19967E-5 41678 0 9.55171E-5
6-151674071-C-T p.Val1515Val synonymous AKAP12 42 83358 5.03851E-4 41679 0 0.00169467
6-151674096-G-A p.Val1524Ile missense AKAP12 1 83358 1.19964E-5 41679 0 NA
6-151674114-A-G p.Ile1530Val missense AKAP12 1 83346 1.19982E-5 41673 0 1.31444E-5
6-151674116-T-TGAG p.Glu1531dup disruptive_inframe_insertion AKAP12 64300 83106 0.773711 41553 24912 0.767173
6-151674126-G-A p.Glu1534Lys missense AKAP12 1 83346 1.19982E-5 41673 0 NA
6-151674149-A-G p.Glu1541Glu synonymous AKAP12 1 83340 1.1999E-5 41670 0 NA
6-151674159-A-C p.Lys1545Gln missense AKAP12 14 83346 1.67974E-4 41673 0 7.55641E-5
6-151674163-G-C p.Ser1546Thr missense AKAP12 1 83338 1.19993E-5 41669 0 8.24103E-6
6-151674165-A-G p.Ser1547Gly missense AKAP12 1 83340 1.1999E-5 41670 0 3.18329E-5
6-151674165-A-T p.Ser1547Cys missense AKAP12 1 83340 1.1999E-5 41670 0 NA
6-151674168-A-G p.Lys1548Glu missense AKAP12 3 83344 3.59954E-5 41672 0 3.18329E-5
6-151674177-C-G p.Gln1551Glu missense AKAP12 3 83334 3.59997E-5 41667 0 NA
6-151674195-G-A p.Ala1557Thr missense AKAP12 3 83338 3.5998E-5 41669 0 3.18431E-5
6-151674196-C-G p.Ala1557Gly missense AKAP12 44 83334 5.27996E-4 41667 0 0.00151057
6-151674197-C-T p.Ala1557Ala synonymous AKAP12 2 83340 2.39981E-5 41670 0 6.25E-4
6-151674197-C-G p.Ala1557Ala synonymous AKAP12 3 83340 3.59971E-5 41670 0 1.59058E-5
6-151674198-G-A p.Val1558Ile missense AKAP12 12 83340 1.43988E-4 41670 0 9.88598E-5
6-151674204-C-A p.Gln1560Lys missense AKAP12 1 83344 1.19985E-5 41672 0 NA
6-151674205-A-T p.Gln1560Leu missense AKAP12 1 83346 1.19982E-5 41673 0 NA
6-151674213-C-T p.Arg1563Cys missense AKAP12 27 83346 3.23951E-4 41673 1 2.70401E-4
6-151674214-G-A p.Arg1563His missense AKAP12 2 83338 2.39987E-5 41669 0 1.59066E-5
6-151674217-C-T p.Thr1564Ile missense AKAP12 1 83330 1.20005E-5 41665 0 5.03525E-4
6-151674226-C-G p.Thr1567Arg missense AKAP12 6 83322 7.20098E-5 41661 0 5.76625E-5
6-151674227-A-G p.Thr1567Thr synonymous AKAP12 1 83318 1.20022E-5 41659 0 NA
6-151674229-C-T p.Ala1568Val missense AKAP12 2 83308 2.40073E-5 41654 0 8.23764E-5
6-151674233-C-T p.Thr1569Thr synonymous AKAP12 1 83298 1.20051E-5 41649 0 5.03525E-4
6-151674244-C-T p.Thr1573Met missense AKAP12 3 83288 3.60196E-5 41644 0 2.47154E-5
6-151674245-G-T p.Thr1573Thr synonymous AKAP12 6 83290 7.20375E-5 41645 0 3.1837E-5
6-151674249-GAGTT-G p.Glu1575fs frameshift AKAP12 1 83290 1.20062E-5 41645 0 NA
6-151674251-G-C p.Glu1575Asp missense AKAP12 1 83284 1.20071E-5 41642 0 8.23873E-6
6-151674257-G-C p.Gln1577His missense AKAP12 15 83276 1.80124E-4 41638 0 1.27356E-4
6-151674269-C-T p.His1581His synonymous AKAP12 2 83238 2.40275E-5 41619 0 1.19327E-5
6-151674270-G-A p.Val1582Met missense AKAP12 7409 83086 0.0891727 41543 375 0.214375
6-151674271-T-A p.Val1582Glu missense AKAP12 1 83242 1.20132E-5 41621 0 NA
6-151674293-C-T p.Asp1589Asp synonymous AKAP12 53 83096 6.37816E-4 41548 0 0.00121004
6-151674294-G-T p.Ala1590Ser missense AKAP12 1 83074 1.20375E-5 41537 0 3.98102E-6
6-151674307-C-T p.Thr1594Met missense AKAP12 2 82964 2.41068E-5 41482 0 6.37186E-5
6-151674308-G-A p.Thr1594Thr synonymous AKAP12 14 82946 1.68785E-4 41473 0 3.50408E-4
6-151674308-G-C p.Thr1594Thr synonymous AKAP12 1 82948 1.20557E-5 41474 0 8.2661E-6
6-151674312-AAAG-A p.Glu1597del disruptive_inframe_deletion AKAP12 124 82902 0.00149574 41451 2 0.00299325
6-151674315-G-A p.Glu1597Lys missense AKAP12 5 82872 6.0334E-5 41436 1 9.55292E-5
6-151674316-A-G p.Glu1597Gly missense AKAP12 2 82880 2.41313E-5 41440 0 NA
6-151674326-A-C p.Glu1600Asp missense AKAP12 45695 79466 0.575026 39733 13415 0.584448
6-151674347-T-G p.Asp1607Glu missense AKAP12 2 82392 2.42742E-5 41196 0 1.19871E-5
6-151674355-C-T p.Pro1610Leu missense AKAP12 6 82222 7.29732E-5 41111 0 4.15607E-5
6-151674381-G-C p.Glu1619Gln missense AKAP12 2 81734 2.44696E-5 40867 0 NA
6-151674387-A-G p.Thr1621Ala missense AKAP12 10 81644 1.22483E-4 40822 0 1.27372E-4
6-151674389-C-T p.Thr1621Thr synonymous AKAP12 14 81634 1.71497E-4 40817 0 1.59226E-4
6-151674407-T-G p.His1627Gln missense AKAP12 4 81624 4.90052E-5 40812 0 6.36821E-5
6-151674410-T-G p.Ser1628Ser synonymous AKAP12 4 81662 4.89824E-5 40831 0 2.40183E-5
6-151674436-C-T p.Ala1637Val missense AKAP12 1 81856 1.22166E-5 40928 0 NA
6-151674473-C-T p.Ser1649Ser synonymous AKAP12 14 82454 1.69792E-4 41227 0 2.22973E-4
6-151674487-A-T p.Gln1654Leu missense AKAP12 1 82594 1.21074E-5 41297 0 NA
6-151674500-G-T p.Glu1658Asp missense AKAP12 1 82644 1.21001E-5 41322 0 NA
6-151674503-C-T p.Val1659Val synonymous AKAP12 2 82620 2.42072E-5 41310 0 6.37267E-5
6-151674504-G-A p.Val1660Ile missense AKAP12 6 82628 7.26146E-5 41314 0 0.00302115
6-151674510-C-T p.Pro1662Ser missense AKAP12 3 82672 3.6288E-5 41336 0 9.55597E-5
6-151674529-G-A p.Gly1668Asp missense AKAP12 2 82748 2.41698E-5 41374 0 3.18512E-5
6-151674531-G-A p.Gly1669Arg missense AKAP12 4 82732 4.83489E-5 41366 0 3.1841E-5
6-151674542-A-T p.Thr1672Thr synonymous AKAP12 1 82798 1.20776E-5 41399 0 NA
6-151674549-G-A p.Val1675Met missense AKAP12 2 82810 2.41517E-5 41405 0 2.39078E-5
6-151674555-G-C p.Glu1677Gln missense AKAP12 3 82842 3.62135E-5 41421 0 NA
6-151674593-G-T p.Glu1689Asp missense AKAP12 6344 82936 0.0764927 41468 565 0.111782
6-151674596-G-A p.Lys1690Lys synonymous AKAP12 5 83014 6.02308E-5 41507 0 4.12541E-5
6-151674597-T-A p.Ser1691Thr missense AKAP12 1 83012 1.20465E-5 41506 0 NA
6-151674604-T-C p.Val1693Ala missense AKAP12 2 83036 2.40859E-5 41518 0 6.3743E-5
6-151674610-C-T p.Pro1695Leu missense AKAP12 3 83052 3.61219E-5 41526 0 9.15306E-5
6-151674611-G-A p.Pro1695Pro synonymous AKAP12 4 83066 4.81545E-5 41533 0 1.23787E-4
6-151674669-G-GCT p.Asp1716fs frameshift AKAP12 2 83260 2.40211E-5 41630 0 NA
6-151674676-C-T p.Thr1717Ile missense AKAP12 1 83266 1.20097E-5 41633 0 NA
6-151674708-C-T p.Pro1728Ser missense AKAP12 1 83274 1.20085E-5 41637 0 NA
6-151674713-T-C p.Asp1729Asp synonymous AKAP12 1 83274 1.20085E-5 41637 0 NA
6-151674718-A-G p.Asn1731Ser missense AKAP12 1 83258 1.20109E-5 41629 0 NA
6-151674719-T-G p.Asn1731Lys missense AKAP12 5 83250 6.00601E-5 41625 0 7.96115E-6
6-151674725-A-G p.Pro1733Pro synonymous AKAP12 1 83232 1.20146E-5 41616 0 NA
6-151674737-G-A p.Glu1737Glu synonymous AKAP12 1 83210 1.20178E-5 41605 0 8.31449E-6
6-151674738-A-G p.Lys1738Glu missense AKAP12 1 83218 1.20166E-5 41609 0 8.3131E-6
6-151674740-G-A p.Lys1738Lys synonymous AKAP12 1 83202 1.20189E-5 41601 0 8.31642E-6
6-151674743-G-A p.Glu1739Glu synonymous AKAP12 2 83168 2.40477E-5 41584 0 3.98327E-6
6-151674749-C-T p.Ala1741Ala synonymous AKAP12 41 83156 4.93049E-4 41578 0 0.00105149
6-151674751-A-G p.Gln1742Arg missense AKAP12 1 83162 1.20247E-5 41581 0 3.18471E-5
6-151674763-T-G p.Leu1746Trp missense AKAP12 1 83112 1.2032E-5 41556 0 NA
6-151674775-A-G p.Lys1750Arg missense AKAP12 4 83064 4.81556E-5 41532 0 1.59246E-4
6-151674792-G-C p.Asp1756His missense AKAP12 1 82966 1.20531E-5 41483 0 NA
6-151674804-A-G p.Thr1760Ala missense AKAP12 9 82886 1.08583E-4 41443 3 8.53504E-6
6-151674815-A-G p.Ala1763Ala synonymous AKAP12 2 82870 2.41342E-5 41435 0 1.60888E-5
6-151674834-CAA-C p.Gln1770fs frameshift AKAP12 2 82786 2.41587E-5 41393 0 NA
6-151674834-CAAGA-C p.Gln1770fs frameshift AKAP12 7 82786 8.45554E-5 41393 0 0.00100705
6-151674835-A-G p.Gln1770Arg missense AKAP12 1 82772 1.20814E-5 41386 0 2.88848E-5
6-151674853-A-T p.Lys1776Met missense AKAP12 1 82540 1.21153E-5 41270 0 NA
6-151674860-A-G p.Glu1778Glu synonymous AKAP12 7 82386 8.49659E-5 41193 0 6.02951E-4
6-151674863-T-C p.Leu1779Leu synonymous AKAP12 1 82334 1.21457E-5 41167 0 4.51296E-6
6-151674887-G-A c.*12G>A splice_region AKAP12 58 81348 7.12986E-4 40674 0 0.00140163
6-151676856-C-T c.*13-6C>T splice_region AKAP12 2 44680 4.47628E-5 22340 0 3.18532E-5