Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-9136232-G-T c.-173G>T 5_prime_UTR_premature_start_codon_gain ANKRD12 3 20 0.15 10 0 0.194013
18-9136353-G-A c.-52G>A splice_region ANKRD12 1 34 0.0294118 17 0 0.00564233
18-9136961-C-G c.-54C>G 5_prime_UTR_premature_start_codon_gain ANKRD12 2 866 0.00230947 433 0 NA
18-9136969-T-A c.-52+6T>A splice_region ANKRD12 2 890 0.00224719 445 0 NA
18-9182379-G-C c.-51-1G>C splice_acceptor ANKRD12 1 80774 1.23802E-5 40387 0 NA
18-9182443-G-A p.Gly5Arg missense ANKRD12 2 82848 2.41406E-5 41424 0 NA
18-9182445-G-A p.Gly5Gly synonymous ANKRD12 8 82846 9.65647E-5 41423 0 4.25148E-5
18-9182456-C-T p.Pro9Leu missense ANKRD12 2 82896 2.41266E-5 41448 0 NA
18-9182458-A-G p.Ile10Val missense ANKRD12 2 82922 2.41191E-5 41461 0 8.43E-6
18-9182485-A-G p.Ser19Gly missense ANKRD12 1 82810 1.20758E-5 41405 0 8.03368E-6
18-9182491-A-G p.Met21Val missense ANKRD12 1 82756 1.20837E-5 41378 0 NA
18-9182494-G-T p.Val22Leu missense ANKRD12 1 82722 1.20887E-5 41361 0 NA
18-9182511-A-G p.Gly27Gly synonymous ANKRD12 2 82432 2.42624E-5 41216 0 3.18573E-5
18-9182522-A-G c.87+5A>G splice_region ANKRD12 1 81836 1.22196E-5 40918 0 NA
18-9195545-ATAGAG-A p.Ser30fs frameshift ANKRD12 2 82658 2.41961E-5 41329 0 NA
18-9195550-G-A p.Ser30Asn missense+splice_region ANKRD12 4 82778 4.8322E-5 41389 0 1.85818E-5
18-9195553-A-G p.Lys31Arg missense ANKRD12 1 82818 1.20747E-5 41409 0 8.57817E-6
18-9195562-T-C p.Ile34Thr missense ANKRD12 1 82904 1.20621E-5 41452 0 NA
18-9195566-A-G p.Ala35Ala synonymous ANKRD12 3 82912 3.61829E-5 41456 0 1.59205E-4
18-9195570-T-C p.Tyr37His missense ANKRD12 1 82932 1.20581E-5 41466 0 NA
18-9195585-A-C p.Lys42Gln missense ANKRD12 3 82980 3.61533E-5 41490 0 NA
18-9195592-A-T p.Glu44Val missense ANKRD12 1 82980 1.20511E-5 41490 0 9.95362E-6
18-9195595-G-A p.Arg45Gln missense ANKRD12 1 82992 1.20494E-5 41496 0 2.01485E-5
18-9195598-G-C p.Ser46Thr missense ANKRD12 183 82992 0.00220503 41496 1 0.00576433
18-9195604-T-C p.Val48Ala missense ANKRD12 2 83032 2.40871E-5 41516 1 4.00988E-6
18-9195607-G-T p.Ser49Ile missense ANKRD12 1 83046 1.20415E-5 41523 0 8.92427E-6
18-9195613-A-G p.Glu51Gly missense ANKRD12 2 83066 2.40772E-5 41533 0 NA
18-9195623-G-A p.Glu54Glu synonymous ANKRD12 2 83094 2.40691E-5 41547 0 NA
18-9195625-AATC-A p.Ser57del disruptive_inframe_deletion ANKRD12 1 83108 1.20325E-5 41554 0 3.18471E-5
18-9195640-G-A p.Arg60His missense ANKRD12 1 83066 1.20386E-5 41533 0 8.31974E-6
18-9195648-C-T p.Pro63Ser missense ANKRD12 1 83052 1.20406E-5 41526 0 NA
18-9195650-T-G p.Pro63Pro synonymous ANKRD12 1 83062 1.20392E-5 41531 0 NA
18-9195657-A-G p.Ile66Val missense ANKRD12 1 83036 1.2043E-5 41518 0 3.18532E-5
18-9195661-G-T p.Ser67Ile missense ANKRD12 1 83034 1.20433E-5 41517 0 NA
18-9195693-A-G p.Thr78Ala missense ANKRD12 1 82890 1.20642E-5 41445 0 NA
18-9195694-C-CAGAGAAAGA p.Arg70_Asn71insLysLysArg conservative_inframe_insertion ANKRD12 1 82888 1.20645E-5 41444 0 NA
18-9195696-G-GAGAAAGAAGGTCCAGAAAA c.235_235+1insAGAAAGAAGGTCCAGAAAA splice_donor ANKRD12 1 82886 1.20648E-5 41443 0 NA
18-9204468-C-G c.236-6C>G splice_region ANKRD12 1 81888 1.22118E-5 40944 0 NA
18-9204502-T-C p.Asn88Asn synonymous ANKRD12 6 82088 7.30923E-5 41044 0 5.26917E-5
18-9204502-T-G p.Asn88Lys missense ANKRD12 2 82088 2.43641E-5 41044 0 3.5043E-4
18-9204503-T-TG p.Glu91fs frameshift ANKRD12 1 82110 1.21788E-5 41055 0 NA
18-9204504-G-C p.Trp89Ser missense ANKRD12 1 82124 1.21767E-5 41062 0 NA
18-9204519-T-C p.Ile94Thr missense ANKRD12 7 82128 8.52328E-5 41064 0 1.32094E-4
18-9204530-A-G p.Arg98Gly missense ANKRD12 1 82088 1.2182E-5 41044 0 NA
18-9204535-A-G p.Thr99Thr synonymous ANKRD12 561 81946 0.00684597 40973 4 0.0161128
18-9204538-C-T p.Tyr100Tyr synonymous ANKRD12 1 81900 1.221E-5 40950 0 NA
18-9208662-A-G p.Glu104Glu synonymous ANKRD12 1 82960 1.2054E-5 41480 0 8.66521E-6
18-9208669-G-C p.Glu107Gln missense ANKRD12 7 82992 8.43455E-5 41496 0 6.49942E-5
18-9208674-G-A p.Lys108Lys synonymous ANKRD12 1 83018 1.20456E-5 41509 0 NA
18-9208688-A-G p.Lys113Arg missense ANKRD12 1 83072 1.20378E-5 41536 0 8.28418E-6
18-9208691-A-G p.Glu114Gly missense ANKRD12 3 83066 3.61159E-5 41533 0 8.27363E-6
18-9208710-C-T p.Ser120Ser synonymous ANKRD12 1 83086 1.20357E-5 41543 0 4.01739E-6
18-9208714-C-A p.Pro122Thr missense ANKRD12 1 83080 1.20366E-5 41540 0 8.25082E-6
18-9208715-CAGT-C p.Val123del disruptive_inframe_deletion ANKRD12 2 83074 2.40749E-5 41537 0 NA
18-9208723-A-C p.Ile125Leu missense ANKRD12 1 82996 1.20488E-5 41498 0 NA
18-9208726-C-T p.Leu126Phe missense ANKRD12 2 82990 2.40993E-5 41495 0 NA
18-9208743-C-T p.Leu131Leu synonymous ANKRD12 1 82924 1.20592E-5 41462 0 8.24552E-6
18-9208788-A-G p.Arg146Arg synonymous ANKRD12 1 82326 1.21468E-5 41163 0 NA
18-9208790-A-G p.Asp147Gly missense ANKRD12 1 82146 1.21734E-5 41073 0 8.31352E-6
18-9211594-A-G p.Asn155Ser missense ANKRD12 2 83220 2.40327E-5 41610 0 NA
18-9211612-C-T p.Thr161Met missense ANKRD12 4 83272 4.80354E-5 41636 0 4.37821E-5
18-9211613-G-A p.Thr161Thr synonymous ANKRD12 5 83270 6.00456E-5 41635 0 7.43962E-5
18-9211618-C-T p.Ala163Val missense ANKRD12 1 83270 1.20091E-5 41635 0 NA
18-9211620-C-G p.Gln164Glu missense ANKRD12 2 83266 2.40194E-5 41633 0 3.97966E-6
18-9211621-A-G p.Gln164Arg missense ANKRD12 1 83272 1.20088E-5 41636 0 NA
18-9211622-A-G p.Gln164Gln synonymous ANKRD12 1 83274 1.20085E-5 41637 0 NA
18-9211625-G-A p.Lys165Lys synonymous ANKRD12 1 83282 1.20074E-5 41641 0 9.91522E-5
18-9211631-T-G p.Thr167Thr synonymous ANKRD12 1 83296 1.20054E-5 41648 0 NA
18-9211643-A-T p.Ser171Ser synonymous ANKRD12 3 83306 3.60118E-5 41653 0 1.19384E-5
18-9211651-A-C p.Gln174Pro missense ANKRD12 3 83300 3.60144E-5 41650 0 1.19406E-5
18-9211667-T-C p.Asn179Asn synonymous ANKRD12 3 83288 3.60196E-5 41644 0 9.5645E-5
18-9211701-A-T p.Met191Leu missense ANKRD12 1 83142 1.20276E-5 41571 0 NA
18-9211751-A-G p.Leu207Leu synonymous ANKRD12 12 82494 1.45465E-4 41247 0 7.59538E-5
18-9211767-G-A p.Val213Met missense ANKRD12 1 82040 1.21892E-5 41020 0 NA
18-9211789-C-G c.652+7C>G splice_region ANKRD12 4 81140 4.92975E-5 40570 0 NA
18-9216748-A-G c.653-8A>G splice_region ANKRD12 2 82782 2.41598E-5 41391 0 1.65486E-5
18-9216796-C-T p.Tyr231Tyr synonymous ANKRD12 1 82832 1.20726E-5 41416 0 1.27429E-4
18-9216799-T-C p.Asp232Asp synonymous ANKRD12 3 82832 3.62179E-5 41416 0 8.26214E-6
18-9216811-A-G p.Ile236Met missense ANKRD12 2 82850 2.414E-5 41425 0 2.47922E-5
18-9216841-A-G p.Thr246Thr synonymous ANKRD12 1 82678 1.20951E-5 41339 0 1.65478E-5
18-9216863-C-T p.Pro254Ser missense ANKRD12 1 82484 1.21236E-5 41242 0 NA
18-9216889-G-A p.Gly262Gly synonymous ANKRD12 1 82176 1.2169E-5 41088 0 NA
18-9221847-C-T c.796-3C>T splice_region ANKRD12 4 83200 4.80769E-5 41600 0 6.78312E-5
18-9221868-C-T p.Arg272Cys missense ANKRD12 3 83224 3.60473E-5 41612 0 8.27499E-6
18-9221873-C-T p.His273His synonymous ANKRD12 5 83248 6.00615E-5 41624 0 1.65188E-4
18-9221883-C-G p.Pro277Ala missense ANKRD12 5532 83172 0.0665128 41586 189 0.0725
18-9221886-T-C p.Phe278Leu missense ANKRD12 1 83254 1.20114E-5 41627 0 NA
18-9221903-T-C p.His283His synonymous ANKRD12 1 83278 1.2008E-5 41639 0 3.18776E-5
18-9221909-G-A p.Glu285Glu synonymous ANKRD12 2 83276 2.40165E-5 41638 0 3.9788E-6
18-9221911-G-A p.Arg286His missense ANKRD12 1 83274 1.20085E-5 41637 0 3.97874E-6
18-9221922-G-A p.Val290Ile missense ANKRD12 1 83284 1.20071E-5 41642 0 NA
18-9221940-T-C p.Leu296Leu synonymous ANKRD12 10 83292 1.2006E-4 41646 0 1.27584E-4
18-9221951-A-C p.Leu299Leu synonymous ANKRD12 2 83296 2.40108E-5 41648 0 NA
18-9221960-A-T p.Arg302Ser missense ANKRD12 2 83294 2.40113E-5 41647 0 NA
18-9221967-C-T p.Pro305Ser missense ANKRD12 1 83302 1.20045E-5 41651 0 2.47211E-5
18-9221972-A-T p.Leu306Phe missense ANKRD12 1 83290 1.20062E-5 41645 0 NA
18-9221998-G-A c.943+1G>A splice_donor ANKRD12 1 83240 1.20135E-5 41620 0 NA
18-9239494-G-T p.Trp96Cys missense ANKRD12 1 76188 1.31254E-5 38094 0 6.25E-4
18-9239562-T-C c.*57+8T>C splice_region ANKRD12 1 75566 1.32335E-5 37783 0 1.51846E-5
18-9254201-T-TA c.944-8_944-7insA splice_region ANKRD12 1 79320 1.26072E-5 39660 0 9.5584E-5
18-9254205-C-T c.944-4C>T splice_region ANKRD12 2 79912 2.50275E-5 39956 0 1.72257E-5
18-9254213-C-T p.Ser316Ser synonymous ANKRD12 9 80938 1.11196E-4 40469 0 5.03525E-4
18-9254236-C-T p.Pro324Leu missense ANKRD12 5 82416 6.06678E-5 41208 0 9.44401E-5
18-9254244-G-A p.Val327Ile missense ANKRD12 1 82582 1.21092E-5 41291 0 8.48594E-6
18-9254257-T-C p.Ile331Thr missense ANKRD12 1 82770 1.20817E-5 41385 0 NA
18-9254258-T-C p.Ile331Ile synonymous ANKRD12 1 82772 1.20814E-5 41386 0 NA
18-9254261-C-T p.Asp332Asp synonymous ANKRD12 1 82802 1.2077E-5 41401 0 3.18817E-5
18-9254277-G-C p.Asp338His missense ANKRD12 1 82966 1.20531E-5 41483 0 4.03763E-6
18-9254281-C-G p.Ser339Cys missense ANKRD12 1 83000 1.20482E-5 41500 0 6.3743E-5
18-9254296-G-A p.Ser344Asn missense ANKRD12 1 83048 1.20412E-5 41524 0 6.00062E-5
18-9254296-G-C p.Ser344Thr missense ANKRD12 1 83048 1.20412E-5 41524 0 3.30333E-5
18-9254311-C-T p.Pro349Leu missense ANKRD12 1 83062 1.20392E-5 41531 0 NA
18-9254312-C-T p.Pro349Pro synonymous ANKRD12 1 83068 1.20383E-5 41534 0 3.30082E-5
18-9254322-C-T p.Pro353Ser missense ANKRD12 1 83066 1.20386E-5 41533 0 NA
18-9254322-C-A p.Pro353Thr missense ANKRD12 2 83066 2.40772E-5 41533 0 NA
18-9254326-T-A p.Leu354His missense ANKRD12 1 83078 1.20369E-5 41539 0 NA
18-9254331-T-C p.Ser356Pro missense ANKRD12 2 83082 2.40726E-5 41541 0 NA
18-9254366-T-A p.Asp367Glu missense ANKRD12 1 83090 1.20351E-5 41545 0 NA
18-9254380-A-G p.Asn372Ser missense ANKRD12 2 83106 2.40657E-5 41553 0 8.26228E-6
18-9254381-T-C p.Asn372Asn synonymous ANKRD12 2 83108 2.40651E-5 41554 0 NA
18-9254396-T-C p.Asp377Asp synonymous ANKRD12 2 83086 2.40714E-5 41543 0 NA
18-9254399-G-C p.Arg378Ser missense ANKRD12 1 83086 1.20357E-5 41543 0 NA
18-9254415-GAAC-G p.Gln385del disruptive_inframe_deletion ANKRD12 2 82996 2.40975E-5 41498 0 1.66644E-5
18-9254435-A-G p.Glu390Glu synonymous ANKRD12 2 82902 2.41249E-5 41451 0 4.48748E-6
18-9254436-C-T p.Pro391Ser missense ANKRD12 1 82870 1.20671E-5 41435 0 3.19509E-5
18-9254441-A-G p.Glu392Glu synonymous ANKRD12 1 82840 1.20715E-5 41420 0 3.18939E-5
18-9254447-A-C p.Glu394Asp missense ANKRD12 67 82820 8.08983E-4 41410 0 0.001875
18-9254454-C-A p.His397Asn missense ANKRD12 1 82744 1.20855E-5 41372 0 NA
18-9254457-T-C p.Leu398Leu synonymous ANKRD12 2 82742 2.41715E-5 41371 0 3.19142E-5
18-9254464-C-G p.Ala400Gly missense ANKRD12 1 82748 1.20849E-5 41374 0 4.71747E-6
18-9254471-G-A p.Gln402Gln synonymous ANKRD12 1 82800 1.20773E-5 41400 0 NA
18-9254472-G-A p.Glu403Lys missense ANKRD12 1 82806 1.20764E-5 41403 0 1.91762E-5
18-9254480-C-T p.Ala405Ala synonymous ANKRD12 10 82778 1.20805E-4 41389 0 6.15806E-4
18-9254490-A-G p.Lys409Glu missense ANKRD12 1 82804 1.20767E-5 41402 0 NA
18-9254511-C-A p.Gln416Lys missense ANKRD12 1 82690 1.20934E-5 41345 0 8.60971E-6
18-9254512-A-G p.Gln416Arg missense ANKRD12 1 82690 1.20934E-5 41345 0 NA
18-9254513-A-G p.Gln416Gln synonymous ANKRD12 4 82722 4.83547E-5 41361 0 NA
18-9254516-G-A p.Lys417Lys synonymous ANKRD12 2 82696 2.4185E-5 41348 0 NA
18-9254519-A-C p.Pro418Pro synonymous ANKRD12 1 82860 1.20685E-5 41430 0 NA
18-9254532-T-C p.Tyr423His missense ANKRD12 1 82902 1.20624E-5 41451 0 4.82402E-6
18-9254537-A-G p.Ser424Ser synonymous ANKRD12 2 82840 2.41429E-5 41420 0 NA
18-9254554-A-G p.Asp430Gly missense ANKRD12 1 82714 1.20899E-5 41357 0 NA
18-9254563-C-T p.Ala433Val missense ANKRD12 2 82720 2.41779E-5 41360 0 4.70859E-6
18-9254563-C-G p.Ala433Gly missense ANKRD12 1 82720 1.2089E-5 41360 0 NA
18-9254566-T-A p.Leu434His missense ANKRD12 1 82762 1.20828E-5 41381 0 8.4763E-6
18-9254573-T-A p.Asn436Lys missense ANKRD12 3 82818 3.6224E-5 41409 0 3.37684E-5
18-9254580-A-G p.Ile439Val missense ANKRD12 2 82842 2.41423E-5 41421 0 NA
18-9254582-T-G p.Ile439Met missense ANKRD12 1 82848 1.20703E-5 41424 0 NA
18-9254598-G-A p.Val445Ile missense ANKRD12 3 82774 3.62433E-5 41387 0 3.19081E-5
18-9254601-A-G p.Ile446Val missense ANKRD12 2 82790 2.41575E-5 41395 0 4.34337E-6
18-9254626-T-C p.Met454Thr missense ANKRD12 38 82574 4.60193E-4 41287 0 0.00403633
18-9254635-A-G p.Lys457Arg missense ANKRD12 1 82456 1.21277E-5 41228 0 8.8447E-6
18-9254644-A-G p.Tyr460Cys missense ANKRD12 1 82424 1.21324E-5 41212 0 2.54323E-5
18-9254646-G-A p.Val461Ile missense ANKRD12 2 82422 2.42654E-5 41211 0 4.56279E-6
18-9254648-A-G p.Val461Val synonymous ANKRD12 1 82308 1.21495E-5 41154 0 4.60604E-6
18-9254652-T-A p.Ser463Thr missense ANKRD12 8 82236 9.7281E-5 41118 0 1.91314E-4
18-9254688-A-G p.Lys475Glu missense ANKRD12 1 81618 1.22522E-5 40809 0 NA
18-9254702-GAATAAA-G p.Asn482_Lys483del conservative_inframe_deletion ANKRD12 1 81362 1.22908E-5 40681 0 NA
18-9254720-C-T p.Asn485Asn synonymous ANKRD12 500 81100 0.00616523 40550 18 0.0128451
18-9254732-G-A p.Lys489Lys synonymous ANKRD12 1 80850 1.23686E-5 40425 0 NA
18-9254753-A-G p.Glu496Glu synonymous ANKRD12 1 80606 1.2406E-5 40303 0 NA
18-9254758-C-T p.Thr498Ile missense ANKRD12 1 80628 1.24026E-5 40314 0 1.87855E-5
18-9254775-A-G p.Thr504Ala missense ANKRD12 1 80748 1.23842E-5 40374 0 NA
18-9254782-A-G p.Asn506Ser missense ANKRD12 1 81124 1.23268E-5 40562 0 NA
18-9254785-C-T p.Thr507Ile missense ANKRD12 5261 80966 0.0649779 40483 172 0.071875
18-9254818-A-T p.Glu518Val missense ANKRD12 3 81334 3.68849E-5 40667 0 NA
18-9254830-G-A p.Arg522Lys missense ANKRD12 1 81200 1.23153E-5 40600 0 4.56138E-5
18-9254835-T-C p.Ser524Pro missense ANKRD12 1 81212 1.23135E-5 40606 0 NA
18-9254835-T-A p.Ser524Thr missense ANKRD12 1 81212 1.23135E-5 40606 0 NA
18-9254836-C-G p.Ser524Cys missense ANKRD12 5 81322 6.1484E-5 40661 0 1.5952E-4
18-9254840-T-TTATTCTG p.Ser526fs frameshift ANKRD12 1 81292 1.23013E-5 40646 0 NA
18-9254851-A-G p.Asp529Gly missense ANKRD12 1 81684 1.22423E-5 40842 0 3.18715E-5
18-9254854-A-T p.Asp530Val missense ANKRD12 1 81796 1.22255E-5 40898 0 NA
18-9254857-C-G p.Thr531Ser missense ANKRD12 1297 81868 0.0158426 40934 14 0.0194827
18-9254859-T-A p.Ser532Thr missense ANKRD12 1 82004 1.21945E-5 41002 0 5.45649E-6
18-9254861-A-G p.Ser532Ser synonymous ANKRD12 1 82058 1.21865E-5 41029 0 NA
18-9254878-T-C p.Ile538Thr missense ANKRD12 4 82372 4.85602E-5 41186 0 0.00125
18-9254885-T-G p.Thr540Thr synonymous ANKRD12 13 82450 1.57671E-4 41225 0 1.91229E-4
18-9254906-T-G p.Ser547Ser synonymous ANKRD12 1 82696 1.20925E-5 41348 0 NA
18-9254909-T-C p.Cys548Cys synonymous ANKRD12 1 82704 1.20913E-5 41352 0 3.18695E-5
18-9254915-A-G p.Leu550Leu synonymous ANKRD12 1 82746 1.20852E-5 41373 0 2.73735E-5
18-9254935-C-T p.Pro557Leu missense ANKRD12 1 82882 1.20653E-5 41441 0 NA
18-9254943-C-A p.Gln560Lys missense ANKRD12 1 82890 1.20642E-5 41445 0 NA
18-9254947-A-C p.Glu561Ala missense ANKRD12 1 82908 1.20616E-5 41454 0 4.12579E-6
18-9254949-C-T p.His562Tyr missense ANKRD12 1 82860 1.20685E-5 41430 0 NA
18-9254968-C-T p.Ser568Leu missense ANKRD12 4 82768 4.83279E-5 41384 0 NA
18-9254969-A-C p.Ser568Ser synonymous ANKRD12 1 82776 1.20808E-5 41388 0 NA
18-9254976-A-G p.Ser571Gly missense ANKRD12 2 82764 2.41651E-5 41382 0 NA
18-9254977-G-T p.Ser571Ile missense ANKRD12 1 82762 1.20828E-5 41381 0 NA
18-9254985-A-G p.Met574Val missense ANKRD12 1 82718 1.20893E-5 41359 0 3.18674E-5
18-9255003-C-A p.Leu580Ile missense ANKRD12 4 82698 4.83688E-5 41349 0 0.00125
18-9255006-G-C p.Val581Leu missense ANKRD12 3 82708 3.62722E-5 41354 0 8.30924E-6
18-9255009-C-T p.Arg582Trp missense ANKRD12 3 82672 3.6288E-5 41336 0 3.32474E-5
18-9255009-C-G p.Arg582Gly missense ANKRD12 9 82672 1.08864E-4 41336 0 9.97423E-5
18-9255016-A-G p.Asp584Gly missense ANKRD12 4 82706 4.83641E-5 41353 0 1.24669E-5
18-9255028-C-G p.Ser588Cys missense ANKRD12 2 82738 2.41727E-5 41369 0 NA
18-9255035-C-T p.Phe590Phe synonymous ANKRD12 1 82772 1.20814E-5 41386 0 3.18796E-5
18-9255035-C-G p.Phe590Leu missense ANKRD12 1 82772 1.20814E-5 41386 0 NA
18-9255043-A-G p.Glu593Gly missense ANKRD12 1 82794 1.20782E-5 41397 0 1.29062E-5
18-9255055-T-C p.Val597Ala missense ANKRD12 1 82840 1.20715E-5 41420 0 8.371E-6
18-9255081-A-G p.Ser606Gly missense ANKRD12 237 82848 0.00286066 41424 2 0.01
18-9255088-A-T p.His608Leu missense ANKRD12 3 82830 3.62188E-5 41415 0 NA
18-9255098-T-C p.Asp611Asp synonymous ANKRD12 1 82760 1.20831E-5 41380 0 9.26226E-6
18-9255103-A-G p.His613Arg missense ANKRD12 1 82688 1.20937E-5 41344 0 NA
18-9255112-T-C p.Phe616Ser missense ANKRD12 1 82552 1.21136E-5 41276 0 NA
18-9255131-C-G p.Ala622Ala synonymous ANKRD12 3 82404 3.6406E-5 41202 0 1.60627E-4
18-9255133-A-G p.Lys623Arg missense ANKRD12 3 82444 3.63883E-5 41222 0 3.18674E-5
18-9255154-G-C p.Ser630Thr missense ANKRD12 1 82466 1.21262E-5 41233 0 4.22554E-5
18-9255159-A-T p.Thr632Ser missense ANKRD12 1 82520 1.21183E-5 41260 0 NA
18-9255160-C-T p.Thr632Ile missense ANKRD12 3 82534 3.63487E-5 41267 0 1.69016E-5
18-9255161-A-G p.Thr632Thr synonymous ANKRD12 1 82562 1.21121E-5 41281 0 NA
18-9255162-T-G p.Phe633Val missense ANKRD12 1 82546 1.21145E-5 41273 0 NA
18-9255163-T-G p.Phe633Cys missense ANKRD12 6 82544 7.26885E-5 41272 0 2.26955E-5
18-9255173-A-G p.Ser636Ser synonymous ANKRD12 10 82646 1.20998E-4 41323 0 0.00100908
18-9255201-GA-G p.Gly647fs frameshift ANKRD12 1 82866 1.20677E-5 41433 0 NA
18-9255209-A-G p.Lys648Lys synonymous ANKRD12 1 82868 1.20674E-5 41434 0 4.62886E-6
18-9255212-A-G p.Thr649Thr synonymous ANKRD12 9 82828 1.08659E-4 41414 0 4.14541E-4
18-9255222-C-A p.His653Asn missense ANKRD12 1 82798 1.20776E-5 41399 0 NA
18-9255262-A-T p.Lys666Ile missense ANKRD12 1 82926 1.20589E-5 41463 0 NA
18-9255264-AAAG-A p.Glu668del conservative_inframe_deletion ANKRD12 5 82930 6.02918E-5 41465 0 3.1902E-5
18-9255265-A-T p.Lys667Ile missense ANKRD12 3 82934 3.61733E-5 41467 0 5.03575E-5
18-9255270-A-G p.Ile669Val missense ANKRD12 4 82962 4.82148E-5 41481 0 7.48944E-5
18-9255280-A-AT p.Glu672fs frameshift ANKRD12 1 82986 1.20502E-5 41493 0 NA
18-9255283-A-C p.Lys673Thr missense ANKRD12 4 82968 4.82114E-5 41484 0 0.00100806
18-9255290-A-T p.Lys675Asn missense ANKRD12 1 82982 1.20508E-5 41491 0 NA
18-9255297-A-G p.Thr678Ala missense ANKRD12 3 82986 3.61507E-5 41493 0 9.56694E-5
18-9255301-A-G p.Lys679Arg missense ANKRD12 9 82972 1.0847E-4 41486 0 2.69351E-5
18-9255302-G-A p.Lys679Lys synonymous ANKRD12 89 82982 0.00107252 41491 1 0.0032901
18-9255303-G-C p.Asp680His missense ANKRD12 1 82988 1.20499E-5 41494 0 NA
18-9255308-T-C p.Ser681Ser synonymous ANKRD12 1 82970 1.20525E-5 41485 0 NA
18-9255310-C-T p.Ala682Val missense ANKRD12 2 82956 2.41092E-5 41478 0 NA
18-9255315-G-C p.Glu684Gln missense ANKRD12 2 82958 2.41086E-5 41479 0 NA
18-9255322-AGAG-A p.Arg687del disruptive_inframe_deletion ANKRD12 11 82968 1.32581E-4 41484 0 7.53617E-5
18-9255325-GG-TT p.Arg687Ile missense ANKRD12 1 82970 1.20525E-5 41485 0 NA
18-9255327-A-T p.Ser688Cys missense ANKRD12 8 82934 9.64622E-5 41467 0 3.72943E-5
18-9255354-A-G p.Lys697Glu missense ANKRD12 1 82784 1.20796E-5 41392 0 8.47371E-6
18-9255373-G-A p.Ser703Asn missense ANKRD12 3 82784 3.62389E-5 41392 0 6.85859E-5
18-9255373-G-C p.Ser703Thr missense ANKRD12 1 82784 1.20796E-5 41392 0 NA
18-9255377-T-C p.Asp704Asp synonymous ANKRD12 3 82780 3.62406E-5 41390 0 9.60184E-5
18-9255383-T-C p.Thr706Thr synonymous ANKRD12 1 82766 1.20823E-5 41383 0 NA
18-9255391-T-C p.Leu709Pro missense ANKRD12 1 82726 1.20881E-5 41363 0 NA
18-9255393-T-C p.Phe710Leu missense ANKRD12 1 82720 1.2089E-5 41360 0 4.50495E-6
18-9255395-T-A p.Phe710Leu missense ANKRD12 1 82710 1.20904E-5 41355 0 3.19877E-5
18-9255401-T-TG p.Met713fs frameshift ANKRD12 1 82690 1.20934E-5 41345 0 NA
18-9255401-T-C p.Asn712Asn synonymous ANKRD12 1 82690 1.20934E-5 41345 0 3.2041E-5
18-9255402-A-T p.Met713Leu missense ANKRD12 1 82704 1.20913E-5 41352 0 4.58299E-6
18-9255402-A-G p.Met713Val missense ANKRD12 1 82704 1.20913E-5 41352 0 NA
18-9255409-A-G p.His715Arg missense ANKRD12 1 82686 1.20939E-5 41343 0 NA
18-9255411-G-A p.Glu716Lys missense ANKRD12 1 82662 1.20975E-5 41331 0 3.2076E-5
18-9255412-A-ATCTTC p.Glu716fs frameshift ANKRD12 4 82664 4.83887E-5 41332 0 NA
18-9255424-T-C p.Leu720Ser missense ANKRD12 1 82558 1.21127E-5 41279 0 NA
18-9255427-A-G p.Glu721Gly missense ANKRD12 2 82582 2.42184E-5 41291 0 9.60799E-5
18-9255435-T-C p.Ser724Pro missense ANKRD12 1 82564 1.21118E-5 41282 0 6.52571E-5
18-9255442-T-C p.Leu726Ser missense ANKRD12 4 82572 4.84426E-5 41286 0 3.24002E-5
18-9255448-A-G p.Lys728Arg missense ANKRD12 1 82558 1.21127E-5 41279 0 1.76274E-5
18-9255451-A-C p.Asn729Thr missense ANKRD12 1 82566 1.21115E-5 41283 0 3.19857E-5
18-9255458-AGAT-A p.Asp733del conservative_inframe_deletion ANKRD12 1 82576 1.21101E-5 41288 0 8.80592E-6
18-9255465-A-G p.Lys734Glu missense ANKRD12 2 82594 2.42148E-5 41297 0 8.79306E-6
18-9255471-A-G p.Thr736Ala missense ANKRD12 513 82444 0.00622241 41222 0 0.010574
18-9255472-C-G p.Thr736Ser missense ANKRD12 1 82406 1.2135E-5 41203 0 9.93039E-6
18-9255479-A-C p.Glu738Asp missense ANKRD12 1 82490 1.21227E-5 41245 0 NA
18-9255491-A-G p.Ser742Ser synonymous ANKRD12 1 82526 1.21174E-5 41263 0 NA
18-9255499-G-A p.Arg745Lys missense ANKRD12 4 82456 4.85107E-5 41228 0 9.61908E-5
18-9255521-C-T p.Asp752Asp synonymous ANKRD12 2 82578 2.42195E-5 41289 0 NA
18-9255523-A-G p.Lys753Arg missense ANKRD12 1 82590 1.2108E-5 41295 0 4.60198E-6
18-9255539-C-T p.Ser758Ser synonymous ANKRD12 2646 82494 0.0320751 41247 54 0.081875
18-9255543-A-C p.Lys760Gln missense ANKRD12 1 82528 1.21171E-5 41264 0 3.43165E-5
18-9255548-T-C p.Ser761Ser synonymous ANKRD12 2 82508 2.42401E-5 41254 0 NA
18-9255549-T-C p.Phe762Leu missense ANKRD12 8 82500 9.69697E-5 41250 0 5.04032E-4
18-9255558-G-GA p.Ile767fs frameshift ANKRD12 1 82400 1.21359E-5 41200 0 NA
18-9255565-T-C p.Ile767Thr missense ANKRD12 1 82362 1.21415E-5 41181 0 NA
18-9255572-T-C p.Asp769Asp synonymous ANKRD12 268 82356 0.00325416 41178 2 0.00875617
18-9255573-C-G p.Leu770Val missense ANKRD12 25 82356 3.0356E-4 41178 0 6.25E-4
18-9255573-C-A p.Leu770Ile missense ANKRD12 1 82358 1.21421E-5 41179 0 NA
18-9255574-T-G p.Leu770Arg missense ANKRD12 1 82350 1.21433E-5 41175 0 NA
18-9255575-A-G p.Leu770Leu synonymous ANKRD12 15 82368 1.8211E-4 41184 0 5.76E-4
18-9255576-AAAG-A p.Glu773del disruptive_inframe_deletion ANKRD12 1 82358 1.21421E-5 41179 0 3.20041E-5
18-9255604-A-C p.Asp780Ala missense ANKRD12 1 82166 1.21705E-5 41083 0 4.76753E-6
18-9255604-A-G p.Asp780Gly missense ANKRD12 1 82166 1.21705E-5 41083 0 3.20061E-5
18-9255609-G-T p.Asp782Tyr missense ANKRD12 3 82090 3.65453E-5 41045 0 NA
18-9255619-T-G p.Phe785Cys missense ANKRD12 1 81928 1.22058E-5 40964 0 NA
18-9255620-T-G p.Phe785Leu missense ANKRD12 2 81926 2.44123E-5 40963 0 NA
18-9255630-G-T p.Gly789Cys missense ANKRD12 5 81804 6.11217E-5 40902 1 0.0015121
18-9255631-G-C p.Gly789Ala missense ANKRD12 2 81798 2.44505E-5 40899 0 NA
18-9255633-A-C p.Met790Leu missense ANKRD12 1 81762 1.22306E-5 40881 0 8.43825E-6
18-9255635-G-A p.Met790Ile missense ANKRD12 1 81740 1.22339E-5 40870 0 3.37422E-5
18-9255654-A-G p.Ile797Val missense ANKRD12 3 81668 3.67341E-5 40834 0 NA
18-9255664-A-G p.His800Arg missense ANKRD12 7 81578 8.58074E-5 40789 0 3.20123E-5
18-9255685-A-G p.Asp807Gly missense ANKRD12 1 81706 1.2239E-5 40853 0 4.34545E-6
18-9255704-G-A p.Lys813Lys synonymous ANKRD12 4 81962 4.88031E-5 40981 0 1.70985E-5
18-9255706-A-G p.His814Arg missense ANKRD12 1 82010 1.21936E-5 41005 0 2.55951E-5
18-9255707-T-G p.His814Gln missense ANKRD12 29 82012 3.53607E-4 41006 0 4.83092E-4
18-9255718-G-A p.Ser818Asn missense ANKRD12 2491 82036 0.0303647 41018 80 0.0466263
18-9255737-G-A p.Lys824Lys synonymous ANKRD12 1 82232 1.21607E-5 41116 0 NA
18-9255739-G-A p.Arg825Gln missense ANKRD12 1 82216 1.21631E-5 41108 0 6.88362E-5
18-9255739-G-T p.Arg825Leu missense ANKRD12 1 82216 1.21631E-5 41108 0 3.21647E-5
18-9255740-A-G p.Arg825Arg synonymous ANKRD12 1 82238 1.21598E-5 41119 0 3.2039E-5
18-9255756-A-G p.Lys831Glu missense ANKRD12 1 82306 1.21498E-5 41153 0 NA
18-9255767-G-A p.Glu834Glu synonymous ANKRD12 2 82316 2.42966E-5 41158 0 NA
18-9255770-G-A p.Lys835Lys synonymous ANKRD12 4 82312 4.85956E-5 41156 0 3.21275E-5
18-9255784-C-A p.Thr840Asn missense ANKRD12 5723 82100 0.0697077 41050 191 0.0742354
18-9255784-C-T p.Thr840Ile missense ANKRD12 2 82288 2.43049E-5 41144 0 4.77756E-5
18-9255785-C-G p.Thr840Thr synonymous ANKRD12 90 82286 0.00109375 41143 0 0.00625
18-9255788-T-G p.Phe841Leu missense ANKRD12 53 82274 6.44189E-4 41137 0 0.00125
18-9255797-AAAG-A p.Lys846del disruptive_inframe_deletion ANKRD12 4 82368 4.85625E-5 41184 0 4.73001E-5
18-9255810-CATG-C p.His849_Glu850delinsGln disruptive_inframe_deletion ANKRD12 1 82198 1.21657E-5 41099 0 3.21709E-5
18-9255815-G-GTCTTTAT p.His851fs frameshift ANKRD12 1 82232 1.21607E-5 41116 0 NA
18-9255816-C-G p.His851Asp missense ANKRD12 1 82198 1.21657E-5 41099 0 4.68112E-6
18-9255817-A-G p.His851Arg missense ANKRD12 1 82234 1.21604E-5 41117 0 2.78213E-5
18-9255821-G-A p.Lys852Lys synonymous ANKRD12 18 82198 2.18983E-4 41099 0 4.49467E-4
18-9255833-CAAA-C p.Lys857del conservative_inframe_deletion ANKRD12 1 82180 1.21684E-5 41090 0 NA
18-9255837-T-G p.Leu858Val missense ANKRD12 1 82204 1.21649E-5 41102 0 NA
18-9255856-T-A p.Val864Asp missense ANKRD12 1 82170 1.21699E-5 41085 0 NA
18-9255858-GATAAA-G p.Ile867fs frameshift ANKRD12 2 82170 2.43398E-5 41085 0 1.32405E-5
18-9255861-A-G p.Lys866Glu missense ANKRD12 1 82198 1.21657E-5 41099 0 1.73898E-5
18-9255865-TAAAAG-T p.Glu869fs frameshift ANKRD12 4 82190 4.86677E-5 41095 0 9.73015E-5
18-9255866-A-T p.Ile867Ile synonymous ANKRD12 1 82212 1.21637E-5 41106 0 NA
18-9255870-G-T p.Glu869* stop_gained ANKRD12 1 82230 1.2161E-5 41115 0 NA
18-9255881-G-A p.Lys872Lys synonymous ANKRD12 1 82202 1.21652E-5 41101 0 4.29406E-6
18-9255883-T-G p.Leu873Arg missense ANKRD12 1 82198 1.21657E-5 41099 0 NA
18-9255884-A-G p.Leu873Leu synonymous ANKRD12 756 82172 0.00920021 41086 6 0.03375
18-9255889-C-T p.Ser875Leu missense ANKRD12 147 82172 0.00178893 41086 1 0.00450537
18-9255890-G-A p.Ser875Ser synonymous ANKRD12 1 82100 1.21803E-5 41050 0 1.56131E-4
18-9255891-C-T p.His876Tyr missense ANKRD12 1 82152 1.21726E-5 41076 0 0.00375
18-9255906-T-A p.Cys881Ser missense ANKRD12 1 82180 1.21684E-5 41090 0 NA
18-9255911-TAAA-T p.Lys883del conservative_inframe_deletion ANKRD12 6 82144 7.30425E-5 41072 0 1.294E-4
18-9255926-G-A p.Lys887Lys synonymous ANKRD12 2 82128 2.43522E-5 41064 0 NA
18-9255929-C-T p.Ser888Ser synonymous ANKRD12 5 82082 6.09147E-5 41041 0 6.21283E-5
18-9255936-ACTG-A p.Ala893del conservative_inframe_deletion ANKRD12 2 82080 2.43665E-5 41040 0 2.27116E-5
18-9255937-C-T p.Thr891Ile missense ANKRD12 2 82080 2.43665E-5 41040 0 1.78865E-5
18-9255937-C-A p.Thr891Asn missense ANKRD12 1 82080 1.21832E-5 41040 0 NA
18-9255941-TG-CT p.AlaAla892AlaSer missense ANKRD12 2 82072 2.43688E-5 41036 0 NA
18-9255959-C-T p.Asp898Asp synonymous ANKRD12 484 81930 0.00590748 40965 11 0.0149486
18-9255959-C-G p.Asp898Glu missense ANKRD12 1 81938 1.22043E-5 40969 0 9.24197E-6
18-9255960-G-A p.Asp899Asn missense ANKRD12 2 81968 2.43998E-5 40984 0 NA
18-9255962-C-G p.Asp899Glu missense ANKRD12 1 81998 1.21954E-5 40999 0 NA
18-9255963-A-G p.Arg900Gly missense ANKRD12 1 82010 1.21936E-5 41005 0 9.51393E-6
18-9255969-A-G p.Lys902Glu missense ANKRD12 2 81980 2.43962E-5 40990 0 3.2078E-5
18-9255976-G-A p.Arg904Lys missense ANKRD12 1 81912 1.22082E-5 40956 0 9.80373E-6
18-9255982-A-G p.Lys906Arg missense ANKRD12 49465 81384 0.607798 40692 15336 0.66875
18-9255998-T-A p.His911Gln missense ANKRD12 1 81892 1.22112E-5 40946 0 NA
18-9256011-C-T p.Pro916Ser missense ANKRD12 3 81918 3.6622E-5 40959 0 3.82995E-5
18-9256012-C-G p.Pro916Arg missense ANKRD12 2 81976 2.43974E-5 40988 0 NA
18-9256028-T-C p.His921His synonymous ANKRD12 1 82144 1.21737E-5 41072 0 NA
18-9256030-T-G p.Leu922Arg missense ANKRD12 2 82122 2.4354E-5 41061 0 1.56969E-5
18-9256046-A-C p.Glu927Asp missense ANKRD12 365 82208 0.00443996 41104 2 0.00977995
18-9256053-TTGA-T p.Met931del conservative_inframe_deletion ANKRD12 4 82242 4.86369E-5 41121 0 NA
18-9256061-G-A p.Glu932Glu synonymous ANKRD12 1 82252 1.21578E-5 41126 0 NA
18-9256062-A-G p.Lys933Glu missense ANKRD12 1 82264 1.2156E-5 41132 0 1.67896E-5
18-9256069-A-G p.Asn935Ser missense ANKRD12 1 82218 1.21628E-5 41109 0 2.69005E-5
18-9256076-A-G p.Gln937Gln synonymous ANKRD12 4 82246 4.86346E-5 41123 0 5.36653E-5
18-9256084-A-G p.Asn940Ser missense ANKRD12 1 82268 1.21554E-5 41134 0 5.05051E-4
18-9256099-A-G p.Lys945Arg missense ANKRD12 1 81946 1.22032E-5 40973 0 NA
18-9256112-C-CA p.Asn951fs frameshift ANKRD12 1 81782 1.22276E-5 40891 0 NA
18-9256118-TAAAG-T p.Glu953fs frameshift ANKRD12 3 81730 3.67062E-5 40865 0 2.44135E-5
18-9256124-A-G p.Glu953Glu synonymous ANKRD12 1 81782 1.22276E-5 40891 0 3.21854E-5
18-9256130-C-T p.Asp955Asp synonymous ANKRD12 3 81768 3.66892E-5 40884 0 1.61959E-4
18-9256167-G-T p.Glu968* stop_gained ANKRD12 1 81798 1.22252E-5 40899 0 NA
18-9256168-A-G p.Glu968Gly missense ANKRD12 1 81804 1.22243E-5 40902 0 NA
18-9256170-A-G p.Ser969Gly missense ANKRD12 2 81802 2.44493E-5 40901 0 6.28141E-4
18-9256179-A-G p.Ile972Val missense ANKRD12 1 81838 1.22193E-5 40919 0 3.21378E-5
18-9256189-C-T p.Ser975Phe missense ANKRD12 26 81878 3.17546E-4 40939 0 7.74443E-4
18-9256189-C-A p.Ser975Tyr missense ANKRD12 10 81876 1.22136E-4 40938 0 3.54953E-4
18-9256196-C-T p.His977His synonymous ANKRD12 6 81970 7.31975E-5 40985 0 3.42126E-5
18-9256197-A-G p.Ile978Val missense ANKRD12 3 81974 3.6597E-5 40987 0 0.00125313
18-9256207-A-G p.Glu981Gly missense ANKRD12 1 82006 1.21942E-5 41003 0 9.25395E-6
18-9256209-A-G p.Lys982Glu missense ANKRD12 1 82012 1.21933E-5 41006 0 NA
18-9256212-AAATC-A p.Ser984fs frameshift ANKRD12 1 82032 1.21904E-5 41016 0 NA
18-9256215-T-A p.Ser984Thr missense ANKRD12 1 82064 1.21856E-5 41032 0 1.69684E-5
18-9256216-C-T p.Ser984Leu missense ANKRD12 28 82080 3.41131E-4 41040 0 5.42787E-4
18-9256221-A-G p.Ile986Val missense ANKRD12 4 82180 4.86736E-5 41090 0 4.30912E-6
18-9256226-A-C p.Val987Val synonymous ANKRD12 5 82166 6.08524E-5 41083 0 4.27859E-6
18-9256226-A-G p.Val987Val synonymous ANKRD12 1 82166 1.21705E-5 41083 0 8.55717E-6
18-9256229-C-T p.Asp988Asp synonymous ANKRD12 16 82116 1.94846E-4 41058 0 0.0010101
18-9256230-G-A p.Gly989Ser missense ANKRD12 37 82116 4.50582E-4 41058 0 6.12943E-4
18-9256230-G-T p.Gly989Cys missense ANKRD12 1 82116 1.21779E-5 41058 0 8.46224E-6
18-9256247-T-C p.His994His synonymous ANKRD12 1 82160 1.21714E-5 41080 0 NA
18-9256253-A-G p.Lys996Lys synonymous ANKRD12 2 82156 2.43439E-5 41078 0 6.26566E-4
18-9256255-CC-TT p.Pro997Leu missense ANKRD12 2 82172 2.43392E-5 41086 0 NA
18-9256258-T-C p.Leu998Ser missense ANKRD12 2007 82110 0.0244428 41055 36 0.0300972
18-9256259-A-G p.Leu998Leu synonymous ANKRD12 1 82144 1.21737E-5 41072 0 8.45737E-6
18-9256260-T-C p.Ser999Pro missense ANKRD12 1 82122 1.2177E-5 41061 0 NA
18-9256265-TAAAGAA-T p.Glu1002_Lys1003del conservative_inframe_deletion ANKRD12 1 82094 1.21812E-5 41047 0 1.69314E-5
18-9256268-A-G p.Lys1001Lys synonymous ANKRD12 2 82042 2.43778E-5 41021 0 8.46067E-6
18-9256269-G-GAA p.Thr1004fs frameshift ANKRD12 1 82036 1.21898E-5 41018 0 NA
18-9256270-A-T p.Glu1002Val missense ANKRD12 40 82032 4.87615E-4 41016 1 0.00105905
18-9256280-AGAT-A p.Asp1006del disruptive_inframe_deletion ANKRD12 3 82028 3.65729E-5 41014 0 2.54194E-5
18-9256281-G-C p.Asp1006His missense ANKRD12 1 82034 1.21901E-5 41017 0 4.13497E-6
18-9256291-T-C p.Leu1009Ser missense ANKRD12 1 81954 1.2202E-5 40977 0 NA
18-9256298-T-C p.Thr1011Thr synonymous ANKRD12 1 81846 1.22181E-5 40923 0 5.07614E-4
18-9256299-C-A p.Pro1012Thr missense ANKRD12 9 81830 1.09984E-4 40915 0 2.55484E-4
18-9256310-A-AGAAAAAGAT p.Glu1016_Asp1018dup conservative_inframe_insertion ANKRD12 1 81782 1.22276E-5 40891 0 3.21605E-5
18-9256311-G-GA p.Asp1018fs frameshift ANKRD12 1 81778 1.22282E-5 40889 0 NA
18-9256311-GAAAAAGATA-G p.Lys1020_Lys1022del conservative_inframe_deletion ANKRD12 2 81778 2.44565E-5 40889 0 3.23541E-5
18-9256313-AAAAGAT-A p.Asp1018_Lys1019del conservative_inframe_deletion ANKRD12 1 81786 1.2227E-5 40893 0 8.58767E-6
18-9256314-A-G p.Lys1017Glu missense ANKRD12 1 81804 1.22243E-5 40902 0 NA
18-9256315-A-T p.Lys1017Ile missense ANKRD12 1 81790 1.22264E-5 40895 0 4.38466E-6
18-9256318-A-T p.Asp1018Val missense ANKRD12 1 81798 1.22252E-5 40899 0 8.57383E-6
18-9256319-TAAAA-T p.Lys1020fs frameshift ANKRD12 1 81780 1.22279E-5 40890 0 NA
18-9256320-A-C p.Lys1019Gln missense ANKRD12 3 81798 3.66757E-5 40899 0 6.39386E-4
18-9256322-AAAAGAT-A p.Lys1022_Asp1023del disruptive_inframe_deletion ANKRD12 5 81812 6.11157E-5 40906 0 6.10112E-5
18-9256326-G-T p.Asp1021Tyr missense ANKRD12 1 81804 1.22243E-5 40902 0 3.22477E-5
18-9256327-A-G p.Asp1021Gly missense ANKRD12 1 81814 1.22228E-5 40907 0 3.21668E-5
18-9256330-AAGATAT-A p.Ile1024_Asp1025del disruptive_inframe_deletion ANKRD12 3 81882 3.66381E-5 40941 0 4.82232E-5
18-9256336-T-C p.Ile1024Thr missense ANKRD12 1 81988 1.21969E-5 40994 0 4.26341E-6
18-9256339-A-G p.Asp1025Gly missense ANKRD12 1 82042 1.21889E-5 41021 0 NA
18-9256361-A-C p.Lys1032Asn missense ANKRD12 1 82396 1.21365E-5 41198 0 NA
18-9256362-CATAAAG-C p.Asp1035_Lys1036del conservative_inframe_deletion ANKRD12 6 82400 7.28155E-5 41200 0 1.70181E-5
18-9256362-C-T p.His1033Tyr missense ANKRD12 1 82400 1.21359E-5 41200 0 4.19386E-6
18-9256368-G-A p.Asp1035Asn missense ANKRD12 1 82440 1.213E-5 41220 0 NA
18-9256370-T-C p.Asp1035Asp synonymous ANKRD12 1 82436 1.21306E-5 41218 0 6.42756E-5
18-9256385-T-C p.Asn1040Asn synonymous ANKRD12 1 82564 1.21118E-5 41282 0 NA
18-9256387-G-A p.Ser1041Asn missense ANKRD12 1 82616 1.21042E-5 41308 0 8.40901E-6
18-9256400-A-G p.Leu1045Leu synonymous ANKRD12 1 82682 1.20945E-5 41341 0 4.06742E-6
18-9256405-C-A p.Ser1047Tyr missense ANKRD12 14 82676 1.69336E-4 41338 0 1.75047E-4
18-9256411-C-T p.Ala1049Val missense ANKRD12 2 82670 2.41926E-5 41335 0 NA
18-9256429-AGTC-A p.Ser1056del disruptive_inframe_deletion ANKRD12 1 82528 1.21171E-5 41264 0 NA
18-9256442-A-G p.Ala1059Ala synonymous ANKRD12 1 82322 1.21474E-5 41161 0 8.45247E-5
18-9256454-C-G p.Thr1063Thr synonymous ANKRD12 1 82114 1.21782E-5 41057 0 9.60492E-5
18-9256471-G-A p.Arg1069Lys missense ANKRD12 3 81918 3.6622E-5 40959 0 NA
18-9256472-G-A p.Arg1069Arg synonymous ANKRD12 4 81892 4.88448E-5 40946 0 3.35621E-5
18-9256479-A-C p.Asn1072His missense ANKRD12 1 81836 1.22196E-5 40918 0 NA
18-9256532-A-C p.Leu1089Leu synonymous ANKRD12 5 81984 6.09875E-5 40992 0 3.1904E-5
18-9256548-C-A p.His1095Asn missense ANKRD12 1 82048 1.2188E-5 41024 0 NA
18-9256582-A-G p.Glu1106Gly missense ANKRD12 1 81880 1.2213E-5 40940 0 NA
18-9256590-C-T p.Arg1109Trp missense ANKRD12 3 81704 3.67179E-5 40852 0 1.27028E-5
18-9256603-G-A p.Arg1113Gln missense ANKRD12 1 81526 1.2266E-5 40763 0 3.19305E-5
18-9256611-T-A p.Leu1116Ile missense ANKRD12 3 81430 3.68415E-5 40715 0 5.04541E-4
18-9256617-C-T p.Leu1118Phe missense ANKRD12 15 81362 1.84361E-4 40681 0 1.91644E-4
18-9256621-A-G p.Lys1119Arg missense ANKRD12 1 81342 1.22938E-5 40671 0 3.3505E-5
18-9256621-A-C p.Lys1119Thr missense ANKRD12 1 81342 1.22938E-5 40671 0 3.18857E-5
18-9256631-T-C p.Asp1122Asp synonymous ANKRD12 4 81218 4.92502E-5 40609 0 3.20369E-5
18-9256631-TAAAG-T p.Glu1124fs frameshift ANKRD12 1 81218 1.23125E-5 40609 0 NA
18-9256633-A-T p.Lys1123Ile missense ANKRD12 1 81234 1.23101E-5 40617 0 NA
18-9256634-A-G p.Lys1123Lys synonymous ANKRD12 1 81216 1.23128E-5 40608 0 4.15093E-6
18-9256639-AAAC-A p.Thr1126del disruptive_inframe_deletion ANKRD12 81 81174 9.97856E-4 40587 4 0.00605449
18-9256642-C-G p.Thr1126Arg missense ANKRD12 1 81110 1.23289E-5 40555 0 8.45537E-6
18-9256644-A-G p.Lys1127Glu missense ANKRD12 1 81134 1.23253E-5 40567 0 NA
18-9256671-A-G p.Lys1136Glu missense ANKRD12 4 81206 4.92574E-5 40603 0 8.40378E-6
18-9256683-A-G p.Arg1140Gly missense ANKRD12 3 81392 3.68587E-5 40696 0 5.03525E-4
18-9256688-A-G p.Ser1141Ser synonymous ANKRD12 1 81458 1.22763E-5 40729 0 4.14236E-6
18-9256689-A-G p.Lys1142Glu missense ANKRD12 1 81460 1.2276E-5 40730 0 1.67963E-5
18-9256690-A-C p.Lys1142Thr missense ANKRD12 1 81482 1.22726E-5 40741 0 8.39546E-6
18-9256712-A-G p.Ala1149Ala synonymous ANKRD12 3 81512 3.68044E-5 40756 0 4.03512E-6
18-9256714-A-G p.Tyr1150Cys missense ANKRD12 2 81496 2.45411E-5 40748 0 NA
18-9256717-C-T p.Thr1151Ile missense ANKRD12 1 81476 1.22736E-5 40738 0 1.67619E-5
18-9256727-A-G p.Lys1154Lys synonymous ANKRD12 2 81486 2.45441E-5 40743 0 1.20993E-5
18-9256730-A-G p.Gln1155Gln synonymous ANKRD12 80 81492 9.81691E-4 40746 0 0.001875
18-9256733-T-C p.Pro1156Pro synonymous ANKRD12 1 81500 1.22699E-5 40750 0 8.36708E-6
18-9256736-A-G p.Lys1157Lys synonymous ANKRD12 1 81514 1.22678E-5 40757 0 1.60622E-5
18-9256743-G-A p.Val1160Ile missense ANKRD12 2 81488 2.45435E-5 40744 0 2.8035E-5
18-9256747-G-A p.Ser1161Asn missense ANKRD12 11 81530 1.3492E-4 40765 0 NA
18-9256753-G-C p.Arg1163Thr missense ANKRD12 1 81530 1.22654E-5 40765 0 NA
18-9256759-A-G p.Gln1165Arg missense ANKRD12 1 81512 1.22681E-5 40756 0 NA
18-9256760-A-G p.Gln1165Gln synonymous ANKRD12 1 81516 1.22675E-5 40758 0 NA
18-9256764-G-C p.Val1167Leu missense ANKRD12 1 81490 1.22714E-5 40745 0 NA
18-9256766-T-C p.Val1167Val synonymous ANKRD12 1 81508 1.22687E-5 40754 0 NA
18-9256786-C-T p.Thr1174Ile missense ANKRD12 3 81728 3.67071E-5 40864 0 9.19096E-5
18-9256793-G-A p.Gly1176Gly synonymous ANKRD12 2 81772 2.44582E-5 40886 0 NA
18-9256796-G-T p.Lys1177Asn missense ANKRD12 2 81798 2.44505E-5 40899 0 3.99527E-6
18-9256797-T-G p.Ser1178Ala missense ANKRD12 1 81814 1.22228E-5 40907 0 7.98977E-6
18-9256806-G-T p.Val1181Phe missense ANKRD12 1 82012 1.21933E-5 41006 0 NA
18-9256813-A-G p.Asp1183Gly missense ANKRD12 1 82144 1.21737E-5 41072 0 8.34126E-6
18-9256826-C-T p.Asn1187Asn synonymous ANKRD12 2 82472 2.42507E-5 41236 0 8.33319E-6
18-9256827-A-G p.Arg1188Gly missense ANKRD12 1 82502 1.21209E-5 41251 0 8.33056E-6
18-9256831-C-T p.Ser1189Phe missense ANKRD12 1 82552 1.21136E-5 41276 0 8.32861E-6
18-9256837-G-C p.Arg1191Thr missense ANKRD12 1 82690 1.20934E-5 41345 0 NA
18-9256840-C-T p.Ser1192Leu missense ANKRD12 2 82728 2.41756E-5 41364 0 NA
18-9256863-A-G p.Ser1200Gly missense ANKRD12 1 83010 1.20467E-5 41505 0 3.99167E-6
18-9256882-T-C p.Met1206Thr missense ANKRD12 1 83108 1.20325E-5 41554 0 NA
18-9256885-T-C p.Ile1207Thr missense ANKRD12 1 83104 1.20331E-5 41552 0 8.28459E-6
18-9256905-G-A p.Asp1214Asn missense ANKRD12 1 83154 1.20259E-5 41577 0 NA
18-9256909-C-G p.Ser1215Cys missense ANKRD12 1 83152 1.20262E-5 41576 0 8.2776E-6
18-9256917-A-G p.Thr1218Ala missense ANKRD12 3 83152 3.60785E-5 41576 0 NA
18-9256920-A-G p.Thr1219Ala missense ANKRD12 2 83154 2.40518E-5 41577 0 2.79005E-5
18-9256932-C-G p.Pro1223Ala missense ANKRD12 1 83176 1.20227E-5 41588 0 8.26774E-6
18-9256946-T-C p.Val1227Val synonymous ANKRD12 1 83196 1.20198E-5 41598 0 NA
18-9256964-T-C p.Phe1233Phe synonymous ANKRD12 26 83184 3.1256E-4 41592 0 2.54759E-4
18-9256967-G-A p.Met1234Ile missense ANKRD12 2 83192 2.40408E-5 41596 0 NA
18-9256979-A-G p.Ser1238Ser synonymous ANKRD12 1 83190 1.20207E-5 41595 0 2.18886E-4
18-9256985-C-T p.Ser1240Ser synonymous ANKRD12 2 83176 2.40454E-5 41588 0 NA
18-9256992-T-C p.Ser1243Pro missense ANKRD12 2 83178 2.40448E-5 41589 0 3.18573E-5
18-9256999-C-G p.Ser1245Cys missense ANKRD12 1 83180 1.20221E-5 41590 0 NA
18-9257011-T-C p.Phe1249Ser missense ANKRD12 2 83128 2.40593E-5 41564 0 NA
18-9257019-A-G p.Ile1252Val missense ANKRD12 9 83098 1.08306E-4 41549 0 3.58286E-4
18-9257028-TCTC-T p.Pro1256del conservative_inframe_deletion ANKRD12 2 83048 2.40825E-5 41524 0 3.29783E-5
18-9257034-G-T p.Ala1257Ser missense ANKRD12 1 83024 1.20447E-5 41512 0 NA
18-9257040-C-G p.His1259Asp missense ANKRD12 1 82980 1.20511E-5 41490 0 3.98219E-6
18-9257041-A-C p.His1259Pro missense ANKRD12 2 82982 2.41016E-5 41491 0 NA
18-9257053-T-C p.Leu1263Ser missense ANKRD12 1 82928 1.20587E-5 41464 0 NA
18-9257059-G-A p.Ser1265Asn missense ANKRD12 13 82902 1.56812E-4 41451 0 0.00375
18-9257064-G-A p.Ala1267Thr missense ANKRD12 1 82868 1.20674E-5 41434 0 3.18532E-5
18-9257066-T-G p.Ala1267Ala synonymous ANKRD12 1 82866 1.20677E-5 41433 0 NA
18-9257068-A-G p.Asp1268Gly missense ANKRD12 1 82838 1.20718E-5 41419 0 NA
18-9257070-T-C p.Leu1269Leu synonymous ANKRD12 30 82828 3.62196E-4 41414 0 0.00151057
18-9257074-C-T p.Pro1270Leu missense ANKRD12 1 82766 1.20823E-5 41383 0 3.29946E-5
18-9257075-G-A p.Pro1270Pro synonymous ANKRD12 7 82758 8.4584E-5 41379 0 1.27445E-4
18-9257079-C-T p.Arg1272Trp missense ANKRD12 1 82718 1.20893E-5 41359 0 3.98702E-5
18-9257080-G-A p.Arg1272Gln missense ANKRD12 1 82704 1.20913E-5 41352 0 2.4748E-5
18-9257080-G-T p.Arg1272Leu missense ANKRD12 1 82704 1.20913E-5 41352 0 8.24933E-6
18-9257083-T-G p.Ile1273Ser missense ANKRD12 1 82698 1.20922E-5 41349 0 6.37024E-5
18-9257093-A-G p.Pro1276Pro synonymous ANKRD12 16 82660 1.93564E-4 41330 0 9.96699E-5
18-9257099-A-G p.Ala1278Ala synonymous ANKRD12 1 82616 1.21042E-5 41308 0 3.98664E-6
18-9257107-T-G p.Leu1281Arg missense ANKRD12 1 82568 1.21112E-5 41284 0 1.19641E-5
18-9257116-C-A p.Ser1284Tyr missense ANKRD12 2 82526 2.42348E-5 41263 0 5.77386E-5
18-9257118-C-A p.His1285Asn missense ANKRD12 1 82518 1.21186E-5 41259 0 NA
18-9257119-A-T p.His1285Leu missense ANKRD12 2 82526 2.42348E-5 41263 0 NA
18-9257127-T-G p.Ser1288Ala missense ANKRD12 1 82486 1.21233E-5 41243 0 3.18634E-5
18-9257149-A-G p.Lys1295Arg missense ANKRD12 1 82616 1.21042E-5 41308 0 NA
18-9257151-C-T p.Leu1296Leu synonymous ANKRD12 124 82636 0.00150056 41318 0 0.00391795
18-9257162-C-T p.Ser1299Ser synonymous ANKRD12 1 82654 1.20986E-5 41327 0 8.24701E-6
18-9257170-G-T p.Arg1302Ile missense ANKRD12 1 82754 1.2084E-5 41377 0 NA
18-9257184-G-A p.Val1307Ile missense ANKRD12 1 82850 1.207E-5 41425 0 1.15514E-4
18-9257186-T-C p.Val1307Val synonymous ANKRD12 1 82840 1.20715E-5 41420 0 6.37105E-5
18-9257187-C-A p.Arg1308Arg synonymous ANKRD12 1 82832 1.20726E-5 41416 0 1.64851E-5
18-9257188-G-A p.Arg1308Gln missense ANKRD12 1 82832 1.20726E-5 41416 0 2.47251E-5
18-9257193-T-C p.Cys1310Arg missense ANKRD12 1 82868 1.20674E-5 41434 0 8.24076E-6
18-9257202-C-T p.Pro1313Ser missense ANKRD12 1 82874 1.20665E-5 41437 0 NA
18-9257220-C-T p.His1319Tyr missense ANKRD12 1 82938 1.20572E-5 41469 0 NA
18-9257225-C-G p.Thr1320Thr synonymous ANKRD12 4 82974 4.82079E-5 41487 0 9.55962E-5
18-9257230-A-G p.Gln1322Arg missense ANKRD12 9 82972 1.0847E-4 41486 0 9.55536E-5
18-9257241-A-G p.Ile1326Val missense ANKRD12 32 82998 3.85551E-4 41499 2 0.00251762
18-9257243-A-G p.Ile1326Met missense ANKRD12 1 83006 1.20473E-5 41503 0 3.98191E-6
18-9257244-T-C p.Ser1327Pro missense ANKRD12 1 83008 1.2047E-5 41504 0 NA
18-9257273-A-C p.Leu1336Phe missense ANKRD12 1 83038 1.20427E-5 41519 0 NA
18-9257275-C-T p.Thr1337Ile missense ANKRD12 1 83036 1.2043E-5 41518 0 3.18451E-5
18-9257277-G-C p.Val1338Leu missense ANKRD12 6 83038 7.22561E-5 41519 0 3.18573E-5
18-9257287-A-T p.Asp1341Val missense ANKRD12 1 82994 1.20491E-5 41497 0 NA
18-9257290-C-T p.Thr1342Ile missense ANKRD12 2 82990 2.40993E-5 41495 0 8.24103E-6
18-9257297-T-G p.Pro1344Pro synonymous ANKRD12 35 82978 4.21799E-4 41489 0 0.005625
18-9257301-C-T p.Pro1346Ser missense ANKRD12 1 82972 1.20523E-5 41486 0 NA
18-9257305-A-T p.Lys1347Ile missense ANKRD12 1 82976 1.20517E-5 41488 0 8.24185E-6
18-9257309-T-G p.Pro1348Pro synonymous ANKRD12 3 82968 3.61585E-5 41484 0 6.37024E-5
18-9257311-A-C p.Glu1349Ala missense ANKRD12 1 82954 1.20549E-5 41477 0 3.98191E-6
18-9257314-T-TATTCTC p.Phe1351_Ser1352dup conservative_inframe_insertion ANKRD12 1 82940 1.20569E-5 41470 0 1.1947E-5
18-9257319-T-A p.Ser1352Thr missense ANKRD12 2 82926 2.41179E-5 41463 0 NA
18-9257322-A-G p.Asn1353Asp missense ANKRD12 4 82918 4.82404E-5 41459 0 1.991E-5
18-9257325-G-A p.Val1354Met missense ANKRD12 2 82910 2.41225E-5 41455 0 3.18552E-5
18-9257329-C-T p.Pro1355Leu missense ANKRD12 1 82910 1.20613E-5 41455 0 NA
18-9257346-A-G p.Asn1361Asp missense ANKRD12 1 82832 1.20726E-5 41416 0 2.4737E-5
18-9257346-A-C p.Asn1361His missense ANKRD12 2 82832 2.41453E-5 41416 0 3.18492E-5
18-9257349-G-T p.Val1362Leu missense ANKRD12 27 82818 3.26016E-4 41409 1 2.54777E-4
18-9257352-T-A p.Ser1363Thr missense ANKRD12 3 82792 3.62354E-5 41396 0 NA
18-9257372-T-G p.Phe1369Leu missense ANKRD12 3 82674 3.62871E-5 41337 0 NA
18-9257376-A-G p.Thr1371Ala missense ANKRD12 17 82656 2.05672E-4 41328 0 2.54777E-4
18-9257401-G-C p.Ser1379Thr missense ANKRD12 1 82580 1.21095E-5 41290 0 NA
18-9257405-G-A p.Lys1380Lys synonymous ANKRD12 3 82586 3.63258E-5 41293 0 2.47464E-5
18-9257443-C-T p.Ala1393Val missense ANKRD12 3 82268 3.64662E-5 41134 0 8.24974E-6
18-9257448-G-A p.Val1395Met missense ANKRD12 1 82260 1.21566E-5 41130 0 3.29979E-5
18-9257450-G-A p.Val1395Val synonymous ANKRD12 2 82230 2.4322E-5 41115 0 6.36983E-5
18-9257463-G-C p.Asp1400His missense ANKRD12 1 82200 1.21655E-5 41100 0 NA
18-9257470-C-T p.Pro1402Leu missense ANKRD12 1 82214 1.21634E-5 41107 0 6.25E-4
18-9257472-G-C p.Val1403Leu missense ANKRD12 1 82226 1.21616E-5 41113 0 NA
18-9257491-G-A p.Ser1409Asn missense ANKRD12 3 82214 3.64901E-5 41107 0 1.59621E-5
18-9257495-G-A p.Gln1410Gln synonymous ANKRD12 1 82226 1.21616E-5 41113 0 0.00100705
18-9257501-T-G p.Gly1412Gly synonymous ANKRD12 31 82212 3.77074E-4 41106 0 2.55826E-4
18-9257514-A-G p.Lys1417Glu missense ANKRD12 1 82238 1.21598E-5 41119 0 1.99454E-5
18-9257517-T-C p.Ser1418Pro missense ANKRD12 4 82238 4.86393E-5 41119 0 NA
18-9257525-G-A p.Glu1420Glu synonymous ANKRD12 1 82274 1.21545E-5 41137 0 3.98928E-6
18-9257557-C-G p.Thr1431Ser missense ANKRD12 3 82356 3.64272E-5 41178 0 3.18492E-5
18-9257565-T-C p.Phe1434Leu missense ANKRD12 1 82368 1.21406E-5 41184 0 NA
18-9257569-T-G p.Ile1435Ser missense ANKRD12 1 82356 1.21424E-5 41178 0 NA
18-9257577-A-G p.Asn1438Asp missense ANKRD12 63 82332 7.65195E-4 41166 0 0.00105089
18-9257578-AT-A p.Ser1439fs frameshift ANKRD12 2 82360 2.42836E-5 41180 1 NA
18-9257579-T-C p.Asn1438Asn synonymous ANKRD12 1 82366 1.21409E-5 41183 0 8.26966E-6
18-9257581-C-T p.Ser1439Phe missense ANKRD12 1 82382 1.21386E-5 41191 0 NA
18-9257583-A-G p.Asn1440Asp missense ANKRD12 1 82370 1.21403E-5 41185 0 3.98969E-6
18-9257587-T-C p.Ile1441Thr missense ANKRD12 1 82392 1.21371E-5 41196 0 NA
18-9257603-C-G p.Ser1446Ser synonymous ANKRD12 3 82358 3.64263E-5 41179 0 1.27421E-4
18-9257607-C-T p.Leu1448Phe missense ANKRD12 1 82366 1.21409E-5 41183 0 8.29009E-6
18-9257614-G-GT p.Cys1452fs frameshift ANKRD12 2 82360 2.42836E-5 41180 1 NA
18-9257639-A-G p.Val1458Val synonymous ANKRD12 8 82376 9.71157E-5 41188 0 1.59246E-4
18-9257646-G-A p.Glu1461Lys missense ANKRD12 2 82376 2.42789E-5 41188 0 8.312E-6
18-9257658-T-A p.Phe1465Ile missense ANKRD12 5 82386 6.06899E-5 41193 0 NA
18-9257665-C-T p.Ser1467Phe missense ANKRD12 1 82410 1.21345E-5 41205 0 NA
18-9257667-C-T p.Leu1468Leu synonymous ANKRD12 2 82442 2.42595E-5 41221 0 1.2011E-5
18-9257683-T-C p.Leu1473Pro missense ANKRD12 1 82486 1.21233E-5 41243 0 4.00368E-6
18-9257688-G-A p.Gly1475Arg missense ANKRD12 3 82506 3.6361E-5 41253 0 9.55597E-5
18-9257690-A-G p.Gly1475Gly synonymous ANKRD12 1 82498 1.21215E-5 41249 0 NA
18-9257695-C-T p.Ser1477Phe missense ANKRD12 2 82530 2.42336E-5 41265 0 4.0025E-6
18-9257697-T-A p.Cys1478Ser missense ANKRD12 89 82530 0.0010784 41265 1 0.00226129
18-9257710-C-T p.Pro1482Leu missense ANKRD12 1 82512 1.21194E-5 41256 0 1.66511E-5
18-9257722-T-C p.Met1486Thr missense ANKRD12 1 82480 1.21242E-5 41240 0 NA
18-9257724-C-G p.Pro1487Ala missense ANKRD12 1 82444 1.21294E-5 41222 0 3.18492E-5
18-9257724-C-T p.Pro1487Ser missense ANKRD12 1 82444 1.21294E-5 41222 0 4.00615E-6
18-9257741-C-G p.Cys1492Trp missense ANKRD12 1 82382 1.21386E-5 41191 0 1.27364E-4
18-9257744-T-C p.Ser1493Ser synonymous ANKRD12 10 82358 1.21421E-4 41179 0 0.00100705
18-9257747-C-CAGA p.Phe1494_Pro1495insArg conservative_inframe_insertion ANKRD12 1 82330 1.21462E-5 41165 0 1.66653E-5
18-9257759-A-T p.Ser1498Ser synonymous ANKRD12 1 82288 1.21524E-5 41144 0 NA
18-9257761-T-G p.Leu1499Arg missense ANKRD12 1 82278 1.21539E-5 41139 0 NA
18-9257764-C-T p.Ser1500Leu missense ANKRD12 2 82234 2.43208E-5 41117 0 NA
18-9257787-C-G p.His1508Asp missense ANKRD12 1 82248 1.21584E-5 41124 0 6.37105E-5
18-9257792-G-A p.Met1509Ile missense ANKRD12 6 82284 7.29182E-5 41142 0 7.61547E-5
18-9257795-T-G p.Ser1510Ser synonymous ANKRD12 1 82292 1.21518E-5 41146 0 8.3524E-6
18-9257802-T-C p.Tyr1513His missense ANKRD12 23 82358 2.79269E-4 41179 0 2.54777E-4
18-9257804-T-C p.Tyr1513Tyr synonymous ANKRD12 1 82364 1.21412E-5 41182 0 3.18431E-5
18-9257812-A-G p.Asn1516Ser missense ANKRD12 1 82402 1.21356E-5 41201 0 3.18634E-5
18-9257813-T-A p.Asn1516Lys missense ANKRD12 3 82422 3.63981E-5 41211 0 1.00181E-4
18-9257816-A-G p.Gln1517Gln synonymous ANKRD12 1 82440 1.213E-5 41220 0 3.18552E-5
18-9257822-A-C p.Pro1519Pro synonymous ANKRD12 1 82450 1.21286E-5 41225 0 8.35729E-6
18-9257835-C-CA p.Asn1526fs frameshift ANKRD12 1 82432 1.21312E-5 41216 0 NA
18-9257838-A-C p.Lys1525Gln missense ANKRD12 6 82456 7.27661E-5 41228 0 6.36943E-5
18-9257843-T-A p.Asn1526Lys missense ANKRD12 1 82458 1.21274E-5 41229 0 3.18593E-5
18-9257846-A-G p.Ala1527Ala synonymous ANKRD12 1 82468 1.21259E-5 41234 0 3.18471E-5
18-9257871-G-T p.Asp1536Tyr missense ANKRD12 1 82436 1.21306E-5 41218 0 NA
18-9257878-A-G p.Asp1538Gly missense ANKRD12 1 82434 1.21309E-5 41217 0 3.18451E-5
18-9257881-A-T p.Asn1539Ile missense ANKRD12 2 82414 2.42677E-5 41207 0 1.20221E-5
18-9257883-G-A p.Glu1540Lys missense ANKRD12 1 82392 1.21371E-5 41196 0 8.3478E-6
18-9257887-C-T p.Ser1541Phe missense ANKRD12 3 82416 3.64007E-5 41208 0 NA
18-9257915-C-G p.Val1550Val synonymous ANKRD12 8 82436 9.7045E-5 41218 0 1.27405E-4
18-9257923-A-C p.Asp1553Ala missense ANKRD12 1 82524 1.21177E-5 41262 0 NA
18-9257925-G-A p.Val1554Ile missense ANKRD12 5 82532 6.05826E-5 41266 0 3.99367E-6
18-9257934-A-C p.Thr1557Pro missense ANKRD12 26 82576 3.14861E-4 41288 0 3.06682E-4
18-9257941-C-T p.Ala1559Val missense ANKRD12 2 82570 2.42219E-5 41285 0 3.18451E-5
18-9257941-C-A p.Ala1559Asp missense ANKRD12 2 82570 2.42219E-5 41285 0 NA
18-9257949-C-G p.Pro1562Ala missense ANKRD12 1 82638 1.2101E-5 41319 0 NA
18-9257954-G-A p.Val1563Val synonymous ANKRD12 2 82658 2.41961E-5 41329 0 6.25E-4
18-9257957-C-T p.Tyr1564Tyr synonymous ANKRD12 2 82646 2.41996E-5 41323 0 NA
18-9257963-C-G p.Asp1566Glu missense ANKRD12 5 82656 6.04917E-5 41328 0 8.27458E-6
18-9257967-A-G p.Thr1568Ala missense ANKRD12 1 82656 1.20983E-5 41328 0 NA
18-9257979-G-A p.Ala1572Thr missense ANKRD12 1 82640 1.21007E-5 41320 0 0.00100705
18-9257980-C-T p.Ala1572Val missense ANKRD12 1 82640 1.21007E-5 41320 0 9.55414E-5
18-9257986-C-T p.Pro1574Leu missense ANKRD12 1 82598 1.21068E-5 41299 0 3.99393E-6
18-9257987-A-G p.Pro1574Pro synonymous ANKRD12 1 82594 1.21074E-5 41297 0 NA
18-9257991-T-A p.Phe1576Ile missense ANKRD12 1 82574 1.21103E-5 41287 0 8.27102E-6
18-9258004-A-C p.Tyr1580Ser missense ANKRD12 1 82450 1.21286E-5 41225 0 NA
18-9258006-A-T p.Thr1581Ser missense ANKRD12 2 82412 2.42683E-5 41206 0 1.65382E-5
18-9258010-T-C p.Leu1582Ser missense ANKRD12 1 82374 1.21398E-5 41187 0 3.18471E-5
18-9258041-T-G p.Asn1592Lys missense ANKRD12 5 81990 6.0983E-5 40995 1 NA
18-9258044-A-G p.Gly1593Gly synonymous ANKRD12 2 81958 2.44027E-5 40979 0 NA
18-9258051-G-A p.Ala1596Thr missense ANKRD12 2 81854 2.44337E-5 40927 0 6.36943E-5
18-9258051-G-T p.Ala1596Ser missense ANKRD12 1 81854 1.22169E-5 40927 0 8.26993E-6
18-9258053-C-T p.Ala1596Ala synonymous ANKRD12 754 81826 0.00921468 40913 6 0.035
18-9258063-C-G p.Leu1600Val missense ANKRD12 7 81776 8.55997E-5 40888 0 6.36943E-5
18-9258065-A-G p.Leu1600Leu synonymous ANKRD12 1 81794 1.22258E-5 40897 0 NA
18-9258072-CATT-C p.Tyr1604del conservative_inframe_deletion ANKRD12 1 81776 1.22285E-5 40888 0 8.27267E-6
18-9258080-A-G p.Ala1605Ala synonymous ANKRD12 1 81788 1.22267E-5 40894 0 NA
18-9258085-G-A p.Ser1607Asn missense ANKRD12 1 81794 1.22258E-5 40897 0 4.00818E-6
18-9258088-A-G p.Lys1608Arg missense ANKRD12 28 81828 3.42181E-4 40914 0 6.36821E-5
18-9258096-T-A p.Tyr1611Asn missense ANKRD12 1 81890 1.22115E-5 40945 0 8.27554E-6
18-9258098-C-T p.Tyr1611Tyr synonymous ANKRD12 1 81908 1.22088E-5 40954 0 5.03525E-4
18-9258106-C-A p.Ser1614Tyr missense ANKRD12 1 81978 1.21984E-5 40989 0 NA
18-9258109-G-A p.Ser1615Asn missense ANKRD12 1 82020 1.21921E-5 41010 0 8.27678E-5
18-9258114-C-A p.His1617Asn missense ANKRD12 1 82068 1.2185E-5 41034 0 NA
18-9258115-A-G p.His1617Arg missense ANKRD12 1 82096 1.21809E-5 41048 0 5.03525E-4
18-9258119-A-G p.Glu1618Glu synonymous ANKRD12 4 82136 4.86997E-5 41068 0 1.19969E-5
18-9258128-T-C p.Asn1621Asn synonymous ANKRD12 1 82184 1.21678E-5 41092 0 6.36862E-5
18-9258135-A-C p.Thr1624Pro missense ANKRD12 1020 82218 0.012406 41109 3 0.00955599
18-9258148-T-A p.Val1628Asp missense ANKRD12 1 82274 1.21545E-5 41137 0 NA
18-9258151-T-C p.Ile1629Thr missense ANKRD12 1 82318 1.2148E-5 41159 0 2.48591E-5
18-9258167-AAAC-A p.Asn1635del disruptive_inframe_deletion ANKRD12 3 82398 3.64087E-5 41199 0 6.63207E-5
18-9258175-T-A p.Leu1637Gln missense ANKRD12 1 82406 1.2135E-5 41203 0 1.19831E-5
18-9258176-G-T p.Leu1637Leu synonymous ANKRD12 4 82418 4.85331E-5 41209 0 6.39187E-5
18-9258181-G-A p.Ser1639Asn missense ANKRD12 1 82432 1.21312E-5 41216 0 1.65843E-5
18-9258182-T-G p.Ser1639Arg missense ANKRD12 12 82426 1.45585E-4 41213 0 2.19664E-4
18-9258186-G-T p.Val1641Phe missense ANKRD12 2 82472 2.42507E-5 41236 0 9.55292E-5
18-9258195-C-T p.His1644Tyr missense ANKRD12 1 82494 1.21221E-5 41247 0 NA
18-9258197-T-G p.His1644Gln missense ANKRD12 3 82508 3.63601E-5 41254 0 3.1841E-5
18-9258208-G-A p.Cys1648Tyr missense ANKRD12 26 82516 3.1509E-4 41258 0 3.8202E-4
18-9258211-A-G p.Asp1649Gly missense ANKRD12 1 82524 1.21177E-5 41262 0 3.18431E-5
18-9258263-A-G p.Glu1666Glu synonymous ANKRD12 1 82104 1.21797E-5 41052 0 NA
18-9258275-A-G p.Lys1670Lys synonymous ANKRD12 1 82066 1.21853E-5 41033 0 8.31463E-6
18-9258279-T-A p.Cys1672Ser missense ANKRD12 1 82060 1.21862E-5 41030 0 9.55536E-5
18-9258289-G-C p.Ser1675Thr missense ANKRD12 1 82036 1.21898E-5 41018 0 6.25E-4
18-9258289-G-A p.Ser1675Asn missense ANKRD12 2 82036 2.43795E-5 41018 0 NA
18-9258297-T-C p.Cys1678Arg missense ANKRD12 2 82094 2.43623E-5 41047 0 NA
18-9258298-G-T p.Cys1678Phe missense ANKRD12 1 82104 1.21797E-5 41052 0 NA
18-9258300-T-A p.Leu1679Met missense ANKRD12 1 82138 1.21746E-5 41069 0 5.82159E-5
18-9258301-T-C p.Leu1679Ser missense ANKRD12 2 82150 2.43457E-5 41075 0 2.86551E-4
18-9258304-T-C p.Leu1680Pro missense ANKRD12 1 82188 1.21672E-5 41094 0 8.31587E-6
18-9258309-A-G p.Ile1682Val missense ANKRD12 6 82252 7.29466E-5 41126 0 3.18431E-5
18-9258311-A-G p.Ile1682Met missense ANKRD12 1 82320 1.21477E-5 41160 0 2.49505E-5
18-9258323-A-C p.Glu1686Asp missense ANKRD12 2 82494 2.42442E-5 41247 0 NA
18-9258331-A-G p.Gln1689Arg missense ANKRD12 1 82598 1.21068E-5 41299 0 NA
18-9258334-G-T p.Ser1690Ile missense ANKRD12 1 82662 1.20975E-5 41331 0 NA
18-9258336-A-G p.Ile1691Val missense ANKRD12 1 82710 1.20904E-5 41355 0 3.18471E-5
18-9258348-C-T p.Leu1695Leu synonymous ANKRD12 1 82842 1.20712E-5 41421 0 8.31933E-6
18-9258370-C-T p.Ser1702Leu missense ANKRD12 1 83010 1.20467E-5 41505 0 8.31642E-6
18-9258372-A-G p.Thr1703Ala missense ANKRD12 2 83016 2.40917E-5 41508 0 6.25E-4
18-9258372-A-C p.Thr1703Pro missense ANKRD12 1 83016 1.20459E-5 41508 0 NA
18-9258373-C-T p.Thr1703Ile missense ANKRD12 1 83018 1.20456E-5 41509 0 NA
18-9258380-A-G p.Pro1705Pro synonymous ANKRD12 1 83040 1.20424E-5 41520 0 NA
18-9258396-G-T p.Gly1711Cys missense ANKRD12 1 83076 1.20372E-5 41538 0 3.18492E-5
18-9258405-G-T p.Val1714Phe missense ANKRD12 1 83084 1.2036E-5 41542 0 NA
18-9258417-T-C p.Leu1718Leu synonymous ANKRD12 1 83076 1.20372E-5 41538 0 NA
18-9258432-G-A p.Glu1723Lys missense ANKRD12 1 83086 1.20357E-5 41543 0 1.19826E-5
18-9258434-AGAT-A p.Asp1725del conservative_inframe_deletion ANKRD12 1 83092 1.20349E-5 41546 0 1.66069E-5
18-9258441-A-G p.Lys1726Glu missense ANKRD12 4 83124 4.81209E-5 41562 0 7.98301E-5
18-9258444-A-G p.Thr1727Ala missense ANKRD12 3 83118 3.60933E-5 41559 0 2.79365E-5
18-9258445-C-G p.Thr1727Ser missense ANKRD12 4 83130 4.81174E-5 41565 0 1.27421E-4
18-9258451-A-G p.Asn1729Ser missense ANKRD12 1 83144 1.20273E-5 41572 0 3.99109E-6
18-9258460-C-T p.Pro1732Leu missense ANKRD12 1 83150 1.20265E-5 41575 0 8.3033E-6
18-9258463-A-C p.Gln1733Pro missense ANKRD12 1 83156 1.20256E-5 41578 0 1.19738E-5
18-9258463-AAAG-A p.Arg1734del disruptive_inframe_deletion ANKRD12 1 83156 1.20256E-5 41578 0 NA
18-9258469-T-C p.Met1735Thr missense ANKRD12 4 83164 4.80977E-5 41582 0 3.99262E-5
18-9258493-T-C p.Met1743Thr missense ANKRD12 2 83158 2.40506E-5 41579 0 3.99202E-6
18-9258516-C-G p.Leu1751Val missense ANKRD12 7 83142 8.41933E-5 41571 0 1.59256E-4
18-9258520-C-G p.Ala1752Gly missense ANKRD12 1 83134 1.20288E-5 41567 0 NA
18-9258520-C-T p.Ala1752Val missense ANKRD12 1 83134 1.20288E-5 41567 0 8.29187E-6
18-9258524-C-T p.Ser1753Ser synonymous ANKRD12 1 83124 1.20302E-5 41562 0 8.29174E-6
18-9258531-C-T p.Leu1756Leu synonymous ANKRD12 5980 83056 0.0719996 41528 202 0.0776318
18-9258533-A-G p.Leu1756Leu synonymous ANKRD12 15 83104 1.80497E-4 41552 0 6.6879E-4
18-9258537-T-C p.Ser1758Pro missense ANKRD12 5975 83014 0.0719758 41507 202 0.0776835
18-9258538-CAGAAAA-C p.Glu1759_Lys1760del disruptive_inframe_deletion ANKRD12 1 83080 1.20366E-5 41540 0 8.28748E-6
18-9258541-A-G p.Glu1759Gly missense ANKRD12 1 83080 1.20366E-5 41540 0 NA
18-9258547-A-G p.Asp1761Gly missense ANKRD12 2 83088 2.40709E-5 41544 0 NA
18-9258548-C-T p.Asp1761Asp synonymous ANKRD12 1 83086 1.20357E-5 41543 0 NA
18-9258551-T-C p.Ser1762Ser synonymous ANKRD12 115 83080 0.00138421 41540 0 0.00151057
18-9258561-T-C p.Ser1766Pro missense ANKRD12 1 83078 1.20369E-5 41539 0 8.27678E-6
18-9258561-TCTC-T p.Pro1767del conservative_inframe_deletion ANKRD12 1 83078 1.20369E-5 41539 0 1.65536E-5
18-9258585-A-T p.Thr1774Ser missense ANKRD12 1 83114 1.20317E-5 41557 0 NA
18-9258593-TGAC-T p.Asp1778del disruptive_inframe_deletion ANKRD12 1 83104 1.20331E-5 41552 0 NA
18-9258596-C-T p.Asp1777Asp synonymous ANKRD12 93 83096 0.00111919 41548 1 8.24885E-4
18-9258608-T-G p.Ile1781Met missense ANKRD12 1 83080 1.20366E-5 41540 0 NA
18-9258610-A-T p.His1782Leu missense ANKRD12 3 83074 3.61124E-5 41537 0 1.65278E-5
18-9258624-A-C p.Arg1787Arg synonymous ANKRD12 1 83032 1.20435E-5 41516 0 3.18573E-5
18-9258634-C-T p.Ser1790Leu missense ANKRD12 2 82966 2.41063E-5 41483 0 NA
18-9258637-G-A p.Arg1791His missense ANKRD12 3 82954 3.61646E-5 41477 0 NA
18-9258639-G-T p.Val1792Leu missense ANKRD12 1 82948 1.20557E-5 41474 0 NA
18-9258642-C-T p.Pro1793Ser missense ANKRD12 1 82942 1.20566E-5 41471 0 NA
18-9258643-C-G p.Pro1793Arg missense ANKRD12 1 82934 1.20578E-5 41467 0 NA
18-9258646-A-G p.Gln1794Arg missense ANKRD12 1 82914 1.20607E-5 41457 0 NA
18-9258648-C-T p.Pro1795Ser missense ANKRD12 1 82890 1.20642E-5 41445 0 NA
18-9258657-G-A p.Val1798Met missense ANKRD12 3 82836 3.62161E-5 41418 0 8.26214E-5
18-9258659-G-C p.Val1798Val synonymous ANKRD12 2 82814 2.41505E-5 41407 0 NA
18-9258665-C-G p.Pro1800Pro synonymous ANKRD12 1 82754 1.2084E-5 41377 0 8.26419E-6
18-9258667-C-G p.Ser1801Cys missense ANKRD12 1 82746 1.20852E-5 41373 0 NA
18-9258678-G-A p.Ala1805Thr missense ANKRD12 1 82640 1.21007E-5 41320 0 3.98931E-6
18-9258689-A-T p.Lys1808Asn missense ANKRD12 1 82546 1.21145E-5 41273 0 1.65338E-5
18-9258690-A-G p.Thr1809Ala missense ANKRD12 2 82532 2.4233E-5 41266 0 6.36902E-5
18-9258694-A-G p.Gln1810Arg missense ANKRD12 1 82510 1.21197E-5 41255 0 NA
18-9258697-A-C p.Gln1811Pro missense ANKRD12 1 82480 1.21242E-5 41240 0 NA
18-9258698-A-G p.Gln1811Gln synonymous ANKRD12 1 82476 1.21247E-5 41238 0 NA
18-9258711-A-G p.Ile1816Val missense ANKRD12 1 82472 1.21253E-5 41236 0 NA
18-9258717-G-GCTTTGTTTTTTCTTTATCTTTT p.Asp1818fs frameshift ANKRD12 1 82446 1.21292E-5 41223 0 NA
18-9258729-C-CT p.Asp1823fs frameshift ANKRD12 1 82440 1.213E-5 41220 0 NA
18-9258731-A-G p.Leu1822Leu synonymous ANKRD12 2 82442 2.42595E-5 41221 0 1.65563E-5
18-9258758-G-C p.Glu1831Asp missense ANKRD12 3 82314 3.64458E-5 41157 0 8.28871E-6
18-9258814-G-A p.Arg1850His missense ANKRD12 6 82182 7.30087E-5 41091 0 1.27429E-4
18-9258818-A-G p.Lys1851Lys synonymous ANKRD12 3 82234 3.64813E-5 41117 0 3.18451E-5
18-9258820-T-C p.Leu1852Ser missense ANKRD12 2 82242 2.43185E-5 41121 0 1.5964E-5
18-9258830-T-C p.Ser1855Ser synonymous ANKRD12 1 82292 1.21518E-5 41146 0 3.98985E-6
18-9258839-T-C p.Pro1858Pro synonymous ANKRD12 3 82340 3.64343E-5 41170 0 3.98985E-6
18-9258848-T-C p.Pro1861Pro synonymous ANKRD12 2 82342 2.42889E-5 41171 0 6.37186E-5
18-9258860-C-T p.Asp1865Asp synonymous ANKRD12 31 82318 3.76588E-4 41159 0 0.00315367
18-9258902-C-T p.Asn1879Asn synonymous ANKRD12 61 81442 7.48999E-4 40721 0 0.00143367
18-9258927-A-G p.Thr1888Ala missense+splice_region ANKRD12 4 81122 4.93084E-5 40561 0 8.54241E-6
18-9263791-A-G p.Thr1890Ala missense ANKRD12 1 81816 1.22225E-5 40908 0 8.83166E-6
18-9263799-A-T p.Pro1892Pro synonymous ANKRD12 1 81934 1.22049E-5 40967 0 NA
18-9263807-T-A p.Leu1895Gln missense ANKRD12 1 82036 1.21898E-5 41018 0 NA
18-9263827-C-T p.Leu1902Phe missense ANKRD12 1 82194 1.21663E-5 41097 0 NA
18-9263833-C-T p.Arg1904* stop_gained ANKRD12 3 82176 3.6507E-5 41088 0 NA
18-9263850-A-G p.Val1909Val synonymous ANKRD12 1 82222 1.21622E-5 41111 0 NA
18-9263859-A-G p.Lys1912Lys synonymous ANKRD12 2 82134 2.43505E-5 41067 0 8.31048E-6
18-9263859-A-C p.Lys1912Asn missense ANKRD12 1 82134 1.21752E-5 41067 0 NA
18-9263860-C-T p.Leu1913Leu synonymous ANKRD12 3 82114 3.65346E-5 41057 0 8.33271E-6
18-9263864-G-A p.Arg1914His missense ANKRD12 1 81960 1.22011E-5 40980 0 4.18782E-6
18-9263876-G-A p.Ser1918Asn missense ANKRD12 1 81946 1.22032E-5 40973 0 NA
18-9263886-G-GGAAAAACTCATT c.5763_5763+1insGAAAAACTCATT splice_donor ANKRD12 1 81290 1.23016E-5 40645 0 NA
18-9275530-C-G p.Leu1924Leu synonymous ANKRD12 1 83160 1.2025E-5 41580 0 NA
18-9275542-C-T p.Asn1928Asn synonymous ANKRD12 5346 82936 0.0644593 41468 162 0.0725
18-9275563-T-G p.Val1935Val synonymous ANKRD12 5438 83116 0.0654266 41558 180 0.0725
18-9275585-T-C p.Leu1943Leu synonymous ANKRD12 2 83298 2.40102E-5 41649 0 3.18492E-5
18-9275598-C-T p.Thr1947Ile missense ANKRD12 1 83286 1.20068E-5 41643 0 NA
18-9275599-A-G p.Thr1947Thr synonymous ANKRD12 5 83286 6.00341E-5 41643 0 4.11862E-5
18-9275605-A-G p.Pro1949Pro synonymous ANKRD12 2 83210 2.40356E-5 41605 0 NA
18-9275617-T-C p.Cys1953Cys synonymous ANKRD12 1 83204 1.20187E-5 41602 0 8.23778E-6
18-9275627-C-T p.Leu1957Leu synonymous ANKRD12 4 83126 4.81197E-5 41563 0 3.18654E-5
18-9275635-C-T p.Ala1959Ala synonymous ANKRD12 3 83066 3.61159E-5 41533 0 5.03525E-4
18-9275648-G-T p.Val1964Leu missense ANKRD12 1 82870 1.20671E-5 41435 0 4.02852E-6
18-9275654-T-C p.Leu1966Leu synonymous ANKRD12 13 82564 1.57454E-4 41282 1 0.00151057
18-9275671-A-G c.5907+6A>G splice_region ANKRD12 2 82068 2.437E-5 41034 0 2.10817E-5
18-9279549-T-G p.Ser1970Ser splice_region+synonymous ANKRD12 2 82398 2.42724E-5 41199 0 2.08335E-5
18-9279557-G-A p.Ser1973Asn missense ANKRD12 3 82506 3.6361E-5 41253 0 1.25425E-5
18-9279618-G-A p.Val1993Val synonymous ANKRD12 1 82568 1.21112E-5 41284 0 NA