Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-10018898-TGC-T c.-44-7_-44-6delGC splice_region ANKEF1 2 73294 2.72874E-5 36647 0 9.54988E-5
20-10018902-TCA-T c.-44-3_-44-2delCA splice_acceptor ANKEF1 2 73864 2.70768E-5 36932 0 9.54988E-5
20-10018952-G-C p.Met1? start_lost ANKEF1 1 81098 1.23308E-5 40549 0 9.0583E-6
20-10018954-C-T p.Ala2Val missense ANKEF1 35 81578 4.29037E-4 40789 0 6.25E-4
20-10018959-G-A p.Ala4Thr missense ANKEF1 5 81822 6.11083E-5 40911 0 4.3093E-6
20-10018962-G-C p.Asp5His missense ANKEF1 1 82034 1.21901E-5 41017 0 8.93479E-6
20-10018969-G-C p.Arg7Thr missense ANKEF1 5 82160 6.08569E-5 41080 0 NA
20-10018984-A-G p.Gln12Arg missense ANKEF1 3 82554 3.63399E-5 41277 0 NA
20-10018985-G-C p.Gln12His missense ANKEF1 1 82680 1.20948E-5 41340 0 1.72747E-5
20-10018990-A-G p.Tyr14Cys missense ANKEF1 1 82746 1.20852E-5 41373 0 NA
20-10018991-C-T p.Tyr14Tyr synonymous ANKEF1 11 82766 1.32905E-4 41383 0 7.6123E-4
20-10018992-A-C p.Lys15Gln missense ANKEF1 22 82792 2.65726E-4 41396 0 2.86551E-4
20-10018993-A-G p.Lys15Arg missense ANKEF1 2 82788 2.41581E-5 41394 0 5.41436E-4
20-10019003-A-G p.Gln18Gln synonymous ANKEF1 4 82966 4.82125E-5 41483 0 1.67892E-5
20-10019005-G-A p.Cys19Tyr missense ANKEF1 1 82976 1.20517E-5 41488 0 NA
20-10019007-G-C p.Val20Leu missense ANKEF1 11 83070 1.32418E-4 41535 0 3.34375E-5
20-10019010-C-T p.Arg21Trp missense ANKEF1 5 83078 6.01844E-5 41539 0 9.17646E-5
20-10019011-G-A p.Arg21Gln missense ANKEF1 2 83086 2.40714E-5 41543 0 3.18492E-5
20-10019029-A-G p.Gln27Arg missense ANKEF1 2 83168 2.40477E-5 41584 0 6.36902E-5
20-10019032-T-C p.Ile28Thr missense ANKEF1 1 83174 1.2023E-5 41587 0 4.13572E-5
20-10019040-C-G p.Leu31Val missense ANKEF1 1 83190 1.20207E-5 41595 0 NA
20-10019053-G-C p.Gly35Ala missense ANKEF1 2 83218 2.40333E-5 41609 0 NA
20-10019057-C-A p.Tyr36* stop_gained ANKEF1 3 83230 3.60447E-5 41615 0 1.11376E-4
20-10019061-G-A p.Glu38Lys missense ANKEF1 17 83230 2.04253E-4 41615 0 3.42068E-4
20-10019070-A-C p.Asn41His missense ANKEF1 1 83242 1.20132E-5 41621 0 NA
20-10019072-TTATACAGAACCCATTAA-T p.Tyr42fs frameshift ANKEF1 2 83248 2.40246E-5 41624 0 2.78408E-5
20-10019093-A-G p.Gly48Gly synonymous ANKEF1 49599 82954 0.59791 41477 15037 0.619336
20-10019100-G-A p.Ala51Thr missense ANKEF1 1 83278 1.2008E-5 41639 0 NA
20-10019126-T-C p.Asn59Asn synonymous ANKEF1 1 83296 1.20054E-5 41648 0 NA
20-10019131-T-G p.Ile61Ser missense ANKEF1 1 83312 1.20031E-5 41656 0 NA
20-10019137-T-C p.Met63Thr missense ANKEF1 2 83306 2.40079E-5 41653 0 3.18451E-5
20-10019139-G-T p.Val64Phe missense ANKEF1 1 83304 1.20042E-5 41652 0 1.19306E-5
20-10019142-A-G p.Ser65Gly missense ANKEF1 2 83302 2.4009E-5 41651 0 NA
20-10019169-C-A p.Pro74Thr missense ANKEF1 533 83298 0.00639871 41649 10 0.0131202
20-10019175-G-A p.Val76Met missense ANKEF1 1 83296 1.20054E-5 41648 0 1.6475E-5
20-10019178-C-T p.Gln77* stop_gained ANKEF1 1 83292 1.2006E-5 41646 0 8.23778E-6
20-10019184-C-T p.Arg79* stop_gained ANKEF1 4 83294 4.80227E-5 41647 0 6.3674E-5
20-10019194-G-A p.Cys82Tyr missense ANKEF1 2 83262 2.40206E-5 41631 0 3.29571E-5
20-10019195-T-C p.Cys82Cys synonymous ANKEF1 1 83258 1.20109E-5 41629 0 1.64785E-5
20-10019197-C-A p.Thr83Asn missense ANKEF1 1 83256 1.20111E-5 41628 0 NA
20-10019199-C-T p.Pro84Ser missense ANKEF1 2 83248 2.40246E-5 41624 0 NA
20-10019201-C-T p.Pro84Pro synonymous ANKEF1 1 83224 1.20158E-5 41612 0 NA
20-10019226-C-T p.His93Tyr missense ANKEF1 8 83060 9.63159E-5 41530 0 3.58374E-5
20-10019232-T-C p.Leu95Leu synonymous ANKEF1 1 82952 1.20552E-5 41476 0 1.65503E-5
20-10019244-A-G p.Ile99Val missense ANKEF1 153 82734 0.0018493 41367 2 0.00337408
20-10019250-G-A p.Ala101Thr missense ANKEF1 3 82472 3.6376E-5 41236 0 NA
20-10019256-G-A p.Ala103Thr missense ANKEF1 1 82182 1.21681E-5 41091 0 NA
20-10019259-A-G p.Lys104Glu missense ANKEF1 1 82096 1.21809E-5 41048 0 3.1839E-5
20-10019265-G-A p.Asp106Asn missense ANKEF1 1 81706 1.2239E-5 40853 0 NA
20-10019268-A-G p.Met107Val missense ANKEF1 1 81496 1.22705E-5 40748 0 NA
20-10019269-T-C p.Met107Thr missense ANKEF1 1 81426 1.22811E-5 40713 0 NA
20-10019274-A-G p.Ile109Val missense ANKEF1 1 80962 1.23515E-5 40481 0 3.18309E-5
20-10019295-G-A p.Gly116Ser missense+splice_region ANKEF1 1 77898 1.28373E-5 38949 0 NA
20-10019296-G-A c.346+1G>A splice_donor ANKEF1 1 77702 1.28697E-5 38851 0 1.1987E-5
20-10023780-T-G p.Phe119Leu missense ANKEF1 1 83354 1.1997E-5 41677 0 3.1839E-5
20-10023786-C-T p.Cys121Cys synonymous ANKEF1 1 83346 1.19982E-5 41673 0 2.78507E-5
20-10023794-C-T p.Pro124Leu missense ANKEF1 4 83354 4.79881E-5 41677 0 6.37227E-5
20-10023795-G-A p.Pro124Pro synonymous ANKEF1 1 83354 1.1997E-5 41677 0 1.19348E-5
20-10023797-C-G p.Thr125Ser missense ANKEF1 6 83358 7.19787E-5 41679 0 1.27356E-4
20-10023799-A-G p.Lys126Glu missense ANKEF1 1 83356 1.19967E-5 41678 0 8.24076E-6
20-10023807-T-C p.His128His synonymous ANKEF1 1 83356 1.19967E-5 41678 0 3.97753E-6
20-10023814-T-G p.Cys131Gly missense ANKEF1 1 83364 1.19956E-5 41682 0 NA
20-10023817-G-T p.Ala132Ser missense ANKEF1 3 83358 3.59893E-5 41679 0 8.24022E-6
20-10023819-T-G p.Ala132Ala synonymous ANKEF1 1 83358 1.19964E-5 41679 0 3.1839E-5
20-10023825-C-T p.Ile134Ile synonymous ANKEF1 1 83342 1.19988E-5 41671 0 1.64802E-5
20-10023847-G-A p.Val142Ile missense ANKEF1 8 83330 9.60038E-5 41665 0 6.25E-4
20-10023855-T-G p.Asn144Lys missense ANKEF1 1 83328 1.20008E-5 41664 0 3.18451E-5
20-10023864-T-C n.489T>C splice_region ANKEF1 1 83328 1.20008E-5 41664 0 NA
20-10023873-G-A p.Lys150Lys synonymous ANKEF1 22 83310 2.64074E-4 41655 0 6.37024E-5
20-10023873-GC-G p.Pro151fs frameshift ANKEF1 1 83308 1.20036E-5 41654 0 NA
20-10023877-A-G p.Ile152Val missense ANKEF1 2 83316 2.4005E-5 41658 0 6.3678E-5
20-10023889-G-A p.Ala156Thr missense ANKEF1 15 83304 1.80063E-4 41652 0 1.56554E-4
20-10023905-A-G p.His161Arg missense ANKEF1 4 83296 4.80215E-5 41648 0 5.13082E-4
20-10023908-A-T p.Asp162Val missense ANKEF1 1 83292 1.2006E-5 41646 0 NA
20-10023910-G-A p.Val163Ile missense ANKEF1 5 83288 6.00327E-5 41644 0 1.27389E-4
20-10023918-T-G p.Asp165Glu missense ANKEF1 1 83290 1.20062E-5 41645 0 NA
20-10023928-A-T p.Thr169Ser missense ANKEF1 1 83282 1.20074E-5 41641 0 1.19327E-5
20-10023930-A-G p.Thr169Thr synonymous ANKEF1 1 83288 1.20065E-5 41644 0 1.98889E-5
20-10023946-G-A p.Ala175Thr missense ANKEF1 2 83260 2.40211E-5 41630 0 NA
20-10023950-A-G p.Asn176Ser missense ANKEF1 3 83248 3.60369E-5 41624 0 5.77044E-5
20-10023959-C-T p.Ala179Val missense ANKEF1 1 83204 1.20187E-5 41602 0 4.1229E-5
20-10023961-A-G p.Ile180Val missense ANKEF1 2 83202 2.40379E-5 41601 0 2.78507E-5
20-10023969-A-G p.Ser182Ser splice_region+synonymous ANKEF1 1 83168 1.20239E-5 41584 0 NA
20-10023972-A-G c.546+3A>G splice_region ANKEF1 12 83156 1.44307E-4 41578 0 0.001875
20-10025035-T-G c.547-7T>G splice_region ANKEF1 1 83202 1.20189E-5 41601 0 1.65101E-5
20-10025042-T-G p.Ser183Ala missense+splice_region ANKEF1 2 83220 2.40327E-5 41610 0 8.24797E-6
20-10025044-C-T p.Ser183Ser splice_region+synonymous ANKEF1 2 83220 2.40327E-5 41610 0 1.19412E-5
20-10025051-C-T p.Arg186Cys missense ANKEF1 1 83244 1.20129E-5 41622 0 0.00100705
20-10025052-G-A p.Arg186His missense ANKEF1 9 83248 1.08111E-4 41624 0 2.86569E-4
20-10025061-T-C p.Leu189Ser missense ANKEF1 3 83278 3.60239E-5 41639 0 8.24063E-6
20-10025069-G-C p.Ala192Pro missense ANKEF1 1 83292 1.2006E-5 41646 0 7.9576E-6
20-10025071-G-A p.Ala192Ala synonymous ANKEF1 5 83296 6.00269E-5 41648 0 6.25E-4
20-10025078-G-A p.Glu195Lys missense ANKEF1 1 83304 1.20042E-5 41652 0 NA
20-10025087-G-A p.Val198Met missense ANKEF1 1 83310 1.20034E-5 41655 0 NA
20-10025098-T-A p.Val201Val synonymous ANKEF1 1 83324 1.20013E-5 41662 0 NA
20-10025099-C-T p.Arg202* stop_gained ANKEF1 1 83326 1.20011E-5 41663 0 2.4715E-5
20-10025104-C-T p.Gly203Gly synonymous ANKEF1 1 83336 1.19996E-5 41668 0 NA
20-10025107-A-T p.Ile204Ile synonymous ANKEF1 1 83324 1.20013E-5 41662 0 NA
20-10025137-T-C p.Phe214Phe synonymous ANKEF1 3 83328 3.60023E-5 41664 0 3.18451E-5
20-10025143-C-T p.Asn216Asn synonymous ANKEF1 1 83320 1.20019E-5 41660 0 3.295E-5
20-10025144-G-A p.Asp217Asn missense ANKEF1 20 83316 2.4005E-4 41658 0 0.00100705
20-10025144-G-T p.Asp217Tyr missense ANKEF1 2 83318 2.40044E-5 41659 0 1.64753E-5
20-10025145-A-G p.Asp217Gly missense ANKEF1 1 83320 1.20019E-5 41660 0 3.97763E-6
20-10025147-A-G p.Arg218Gly missense ANKEF1 1 83324 1.20013E-5 41662 0 8.23764E-6
20-10025150-C-A p.His219Asn missense ANKEF1 2 83318 2.40044E-5 41659 0 3.9776E-6
20-10025155-C-T p.His220His synonymous ANKEF1 1 83310 1.20034E-5 41655 0 NA
20-10025156-G-A p.Ala221Thr missense ANKEF1 4 83308 4.80146E-5 41654 0 5.17092E-5
20-10025156-G-T p.Ala221Ser missense ANKEF1 2 83308 2.40073E-5 41654 0 3.18613E-5
20-10025173-T-C p.Ala226Ala synonymous ANKEF1 2 83302 2.4009E-5 41651 0 3.18451E-5
20-10025182-C-G p.Gly229Gly synonymous ANKEF1 1 83264 1.201E-5 41632 0 3.18634E-5
20-10025188-C-T p.Phe231Phe synonymous ANKEF1 11 83234 1.32158E-4 41617 0 4.94943E-5
20-10026223-T-C p.Ile233Thr missense+splice_region ANKEF1 2 83180 2.40442E-5 41590 0 4.17307E-5
20-10026226-T-C p.Leu234Ser missense ANKEF1 3 83184 3.60646E-5 41592 0 1.33329E-4
20-10026244-A-G p.Tyr240Cys missense ANKEF1 1 83224 1.20158E-5 41612 0 1.65692E-5
20-10026254-C-T p.Asp243Asp synonymous ANKEF1 2 83244 2.40258E-5 41622 0 3.18552E-5
20-10026254-C-A p.Asp243Glu missense ANKEF1 2 83244 2.40258E-5 41622 0 NA
20-10026255-G-A p.Val244Met missense ANKEF1 67 83246 8.04843E-4 41623 0 0.003125
20-10026258-G-T p.Gly245Trp missense ANKEF1 2 83254 2.40229E-5 41627 0 3.18613E-5
20-10026268-C-T p.Ser248Leu missense ANKEF1 4 83250 4.8048E-5 41625 0 1.19362E-5
20-10026281-C-T p.Asn252Asn synonymous ANKEF1 2 83248 2.40246E-5 41624 0 NA
20-10026297-G-A p.Ala258Thr missense ANKEF1 1 83240 1.20135E-5 41620 0 NA
20-10026310-G-A p.Gly262Asp missense ANKEF1 1 83208 1.20181E-5 41604 0 NA
20-10026325-G-A p.Cys267Tyr missense ANKEF1 3 83166 3.60724E-5 41583 0 7.95779E-6
20-10026332-T-C p.Tyr269Tyr synonymous ANKEF1 1 83144 1.20273E-5 41572 0 NA
20-10026334-T-C p.Ile270Thr missense ANKEF1 2 83138 2.40564E-5 41569 0 NA
20-10026342-C-T p.Arg273* stop_gained ANKEF1 3 83070 3.61141E-5 41535 0 3.29946E-5
20-10026343-G-A p.Arg273Gln missense+splice_region ANKEF1 2 83068 2.40767E-5 41534 0 9.89821E-5
20-10026348-A-G c.820+3A>G splice_region ANKEF1 136 83002 0.00163851 41501 2 0.001875
20-10026353-T-C c.820+8T>C splice_region ANKEF1 1 82970 1.20525E-5 41485 0 NA
20-10030031-G-A c.821-7G>A splice_region ANKEF1 55 82894 6.63498E-4 41447 0 4.6358E-4
20-10030046-C-T p.Leu277Leu synonymous ANKEF1 1 82942 1.20566E-5 41471 0 4.06497E-6
20-10030067-C-A p.His284Asn missense ANKEF1 1 83010 1.20467E-5 41505 0 NA
20-10030069-T-C p.His284His synonymous ANKEF1 1 83012 1.20465E-5 41506 0 NA
20-10030069-T-G p.His284Gln missense ANKEF1 1 83012 1.20465E-5 41506 0 2.49401E-5
20-10030071-A-G p.Lys285Arg missense ANKEF1 1 83024 1.20447E-5 41512 0 NA
20-10030077-C-G p.Pro287Arg missense ANKEF1 1 83000 1.20482E-5 41500 0 NA
20-10030081-G-C p.Arg288Ser missense ANKEF1 1 83024 1.20447E-5 41512 0 NA
20-10030087-G-A p.Val290Val synonymous ANKEF1 1 83036 1.2043E-5 41518 0 NA
20-10030094-G-A p.Glu293Lys missense ANKEF1 2 83062 2.40784E-5 41531 0 NA
20-10030095-A-G p.Glu293Gly missense ANKEF1 1 83070 1.2038E-5 41535 0 3.98321E-6
20-10030100-G-A p.Gly295Ser missense ANKEF1 2 83052 2.40813E-5 41526 0 3.1839E-5
20-10030103-T-G p.Phe296Val missense ANKEF1 1 83084 1.2036E-5 41542 0 NA
20-10030111-A-G p.Ala298Ala synonymous ANKEF1 1 83126 1.20299E-5 41563 0 NA
20-10030117-C-G p.Ser300Arg missense ANKEF1 3 83140 3.60837E-5 41570 0 2.78747E-5
20-10030117-C-T p.Ser300Ser synonymous ANKEF1 1 83140 1.20279E-5 41570 0 3.9821E-6
20-10030120-AGAAATACGCC-A p.Ile303fs frameshift ANKEF1 1 83160 1.2025E-5 41580 0 2.7868E-5
20-10030125-T-C p.Ile303Thr missense ANKEF1 2 83174 2.4046E-5 41587 0 NA
20-10030126-ACG-A p.Arg304fs frameshift ANKEF1 1 83162 1.20247E-5 41581 0 3.98067E-6
20-10030128-G-A p.Arg304His missense ANKEF1 1 83152 1.20262E-5 41576 0 3.18532E-5
20-10030129-CC-GG p.ArgArg304ArgGly missense ANKEF1 1 83158 1.20253E-5 41579 0 NA
20-10030130-C-T p.Arg305* stop_gained ANKEF1 2 83168 2.40477E-5 41584 0 7.96242E-6
20-10030130-C-A p.Arg305Arg synonymous ANKEF1 1 83168 1.20239E-5 41584 0 NA
20-10030130-C-G p.Arg305Gly missense ANKEF1 1 83168 1.20239E-5 41584 0 1.649E-5
20-10030131-G-A p.Arg305Gln missense ANKEF1 3 83172 3.60698E-5 41586 0 3.18552E-5
20-10030133-G-A p.Ala306Thr missense ANKEF1 1 83178 1.20224E-5 41589 0 NA
20-10030138-G-A p.Glu307Glu synonymous ANKEF1 1 83210 1.20178E-5 41605 0 NA
20-10030141-A-G p.Arg308Arg synonymous ANKEF1 13 83214 1.56224E-4 41607 0 1.71109E-4
20-10030153-A-G p.Lys312Lys synonymous ANKEF1 2 83262 2.40206E-5 41631 0 3.97909E-5
20-10030157-G-A p.Ala314Thr missense ANKEF1 1 83258 1.20109E-5 41629 0 NA
20-10030157-GC-AA p.Ala314Asn missense ANKEF1 1 83258 1.20109E-5 41629 0 NA
20-10030165-A-G p.Pro316Pro synonymous ANKEF1 1 83288 1.20065E-5 41644 0 8.2394E-6
20-10030174-A-G p.Lys319Lys synonymous ANKEF1 143 83296 0.00171677 41648 1 0.00445917
20-10030178-C-T p.Pro321Ser missense ANKEF1 8 83300 9.60384E-5 41650 0 1.59297E-4
20-10030179-C-G p.Pro321Arg missense ANKEF1 1 83300 1.20048E-5 41650 0 NA
20-10030184-C-G p.Pro323Ala missense ANKEF1 22 83294 2.64125E-4 41647 0 1.27421E-4
20-10030186-A-G p.Pro323Pro synonymous ANKEF1 2 83292 2.40119E-5 41646 0 NA
20-10030188-T-A p.Leu324Gln missense ANKEF1 22065 83070 0.265619 41535 2993 0.2825
20-10030203-T-A p.Leu329Gln missense ANKEF1 1 83272 1.20088E-5 41636 0 5.76806E-5
20-10030204-G-T p.Leu329Leu synonymous ANKEF1 2 83270 2.40183E-5 41635 0 1.59146E-5
20-10030207-C-T p.His330His synonymous ANKEF1 35 83268 4.2033E-4 41634 0 0.00121104
20-10030209-A-G p.Asp331Gly missense ANKEF1 3 83264 3.603E-5 41632 0 3.97883E-6
20-10030219-A-T p.Val334Val synonymous ANKEF1 2 83252 2.40234E-5 41626 0 NA
20-10030228-G-C p.Glu337Asp missense ANKEF1 2 83218 2.40333E-5 41609 0 8.2409E-6
20-10030230-C-T p.Ala338Val missense ANKEF1 1 83192 1.20204E-5 41596 0 8.2409E-6
20-10030239-G-A p.Arg341Gln missense ANKEF1 1 83160 1.2025E-5 41580 0 NA
20-10030251-C-T p.Ala345Val missense ANKEF1 2 83116 2.40628E-5 41558 0 8.24253E-6
20-10030252-G-T p.Ala345Ala synonymous ANKEF1 41 83126 4.93227E-4 41563 1 0.00124259
20-10030252-G-A p.Ala345Ala synonymous ANKEF1 1 83126 1.20299E-5 41563 0 1.19394E-5
20-10030259-G-C p.Asp348His missense ANKEF1 15 83104 1.80497E-4 41552 0 0.00100705
20-10030262-A-G p.Arg349Gly missense ANKEF1 18 83080 2.16659E-4 41540 0 1.73099E-4
20-10030267-T-G p.Gly350Gly synonymous ANKEF1 3 83060 3.61185E-5 41530 0 1.19427E-5
20-10030274-A-G p.Ser353Gly missense ANKEF1 1 83042 1.20421E-5 41521 0 NA
20-10030279-C-G p.Ile354Met missense ANKEF1 1 83022 1.2045E-5 41511 0 NA
20-10030280-A-G p.Ser355Gly missense ANKEF1 54 83026 6.50399E-4 41513 0 7.32624E-4
20-10030288-C-T p.Asn357Asn synonymous ANKEF1 2 82994 2.40981E-5 41497 0 3.98178E-6
20-10030297-G-A p.Val360Val synonymous ANKEF1 3 82968 3.61585E-5 41484 0 3.982E-6
20-10030334-G-A p.Glu373Lys missense ANKEF1 1 82972 1.20523E-5 41486 0 8.27253E-6
20-10030352-G-T p.Ala379Ser missense ANKEF1 42 82970 5.06207E-4 41485 1 0.00355252
20-10030352-G-A p.Ala379Thr missense ANKEF1 4 82972 4.8209E-5 41486 0 2.49008E-5
20-10030354-T-G p.Ala379Ala synonymous ANKEF1 2 82996 2.40975E-5 41498 0 3.99128E-6
20-10030356-A-G p.His380Arg missense ANKEF1 2 82992 2.40987E-5 41496 0 NA
20-10030374-G-T p.Arg386Leu missense ANKEF1 2 83044 2.40836E-5 41522 0 4.00186E-6
20-10030374-G-A p.Arg386Gln missense ANKEF1 1 83044 1.20418E-5 41522 0 3.18573E-5
20-10030375-G-A p.Arg386Arg synonymous ANKEF1 1 83050 1.20409E-5 41525 0 NA
20-10030378-A-T p.Gly387Gly synonymous ANKEF1 1 83070 1.2038E-5 41535 0 3.99997E-6
20-10030393-T-G p.Ile392Met missense ANKEF1 2 83064 2.40778E-5 41532 0 3.18573E-5
20-10030396-T-C p.Asn393Asn synonymous ANKEF1 21 83066 2.52811E-4 41533 0 0.00125156
20-10030406-A-G p.Lys397Glu missense ANKEF1 12 83028 1.4453E-4 41514 0 1.91071E-4
20-10030416-G-A p.Arg400Lys missense ANKEF1 1 83020 1.20453E-5 41510 0 NA
20-10030417-A-G p.Arg400Arg synonymous ANKEF1 10 83016 1.20459E-4 41508 0 1.4425E-4
20-10030419-A-G p.Tyr401Cys missense ANKEF1 2 83020 2.40906E-5 41510 0 4.00673E-6
20-10030431-C-T p.Ser405Phe missense ANKEF1 3 82990 3.61489E-5 41495 0 5.03525E-4
20-10030447-G-A p.Ser410Ser synonymous ANKEF1 5 82942 6.02831E-5 41471 0 1.08574E-4
20-10030450-TG-T p.Gly412fs frameshift ANKEF1 1 82936 1.20575E-5 41468 0 NA
20-10030452-G-A p.Gly412Glu missense ANKEF1 20868 82702 0.252328 41351 2708 0.268125
20-10030452-G-C p.Gly412Ala missense ANKEF1 1 82908 1.20616E-5 41454 0 3.19224E-5
20-10030462-A-G p.Lys415Lys synonymous ANKEF1 1 82910 1.20613E-5 41455 0 NA
20-10030500-A-C p.Lys428Thr missense ANKEF1 1 82966 1.20531E-5 41483 0 NA
20-10030508-T-C p.Leu431Leu synonymous ANKEF1 18 82974 2.16935E-4 41487 0 0.005
20-10030510-A-G p.Leu431Leu synonymous ANKEF1 1 82964 1.20534E-5 41482 0 1.27405E-4
20-10030512-C-T p.Pro432Leu missense ANKEF1 1 82978 1.20514E-5 41489 0 3.18573E-5
20-10030514-C-T p.Leu433Phe missense ANKEF1 1 82996 1.20488E-5 41498 0 NA
20-10030524-G-C p.Cys436Ser missense ANKEF1 9 83074 1.08337E-4 41537 0 6.25E-4
20-10030537-G-T p.Glu440Asp missense ANKEF1 1 83106 1.20328E-5 41553 0 3.98016E-6
20-10030540-C-T p.Tyr441Tyr synonymous ANKEF1 1 83100 1.20337E-5 41550 0 NA
20-10030549-A-T p.Pro444Pro synonymous ANKEF1 1 83116 1.20314E-5 41558 0 1.59195E-4
20-10030553-C-T p.Arg446Trp missense ANKEF1 45 83118 5.41399E-4 41559 0 0.00114642
20-10030558-G-C p.Gln447His missense ANKEF1 2 83142 2.40552E-5 41571 0 1.19408E-5
20-10030562-G-C p.Gly449Arg missense ANKEF1 1 83134 1.20288E-5 41567 0 5.03525E-4
20-10030570-A-G p.Pro451Pro synonymous ANKEF1 1 83106 1.20328E-5 41553 0 NA
20-10030572-C-T p.Pro452Leu missense ANKEF1 8 83090 9.62811E-5 41545 0 2.22916E-4
20-10030573-G-A p.Pro452Pro synonymous ANKEF1 88 83104 0.00105891 41552 2 0.00251762
20-10030576-T-C p.Tyr453Tyr synonymous ANKEF1 1 83136 1.20285E-5 41568 0 3.1837E-5
20-10030583-A-G p.Ile456Val missense ANKEF1 1 83152 1.20262E-5 41576 0 NA
20-10030587-A-G p.Glu457Gly missense ANKEF1 3 83160 3.6075E-5 41580 0 6.36699E-5
20-10030594-C-T p.Tyr459Tyr synonymous ANKEF1 1 83160 1.2025E-5 41580 0 7.95938E-6
20-10030595-A-G p.Lys460Glu missense ANKEF1 11 83164 1.32269E-4 41582 0 4.73575E-4
20-10030606-T-C p.Thr463Thr synonymous ANKEF1 1 83142 1.20276E-5 41571 0 8.23845E-6
20-10030607-GA-AT p.Asp464Ile missense ANKEF1 1 83142 1.20276E-5 41571 0 NA
20-10030610-AGCAGCCGGTTTAATAGAGATCATCCC-A p.Ser465fs frameshift ANKEF1 1 83134 1.20288E-5 41567 0 8.23805E-6
20-10030612-C-T p.Ser465Ser synonymous ANKEF1 2 83134 2.40575E-5 41567 0 3.97915E-6
20-10030616-CGG-C p.Arg467fs frameshift ANKEF1 1 83138 1.20282E-5 41569 0 NA
20-10030616-C-T p.Arg467Trp missense ANKEF1 1 83138 1.20282E-5 41569 0 NA
20-10030617-G-A p.Arg467Gln missense ANKEF1 22 83134 2.64633E-4 41567 0 2.71851E-4
20-10030618-G-T p.Arg467Arg synonymous ANKEF1 1 83136 1.20285E-5 41568 0 NA
20-10030626-G-A p.Arg470Lys missense ANKEF1 2 83112 2.40639E-5 41556 0 3.29506E-5
20-10030644-A-G p.His476Arg missense ANKEF1 1 83030 1.20438E-5 41515 0 3.98026E-6
20-10030659-ACT-A p.Ser482fs frameshift ANKEF1 1 82980 1.20511E-5 41490 0 NA
20-10030661-T-C p.Ser482Pro missense ANKEF1 2 82980 2.41022E-5 41490 0 NA
20-10030662-CTGTT-C p.Val483fs frameshift ANKEF1 1 82972 1.20523E-5 41486 0 8.23818E-6
20-10030664-GTT-G p.Trp484fs frameshift ANKEF1 1 82952 1.20552E-5 41476 0 8.23818E-6
20-10030668-GGTACA-G p.Trp484fs frameshift ANKEF1 1 82948 1.20557E-5 41474 0 8.23832E-6
20-10030673-A-G p.Ile486Val missense ANKEF1 2 82936 2.4115E-5 41468 0 6.36862E-5
20-10030688-A-C p.Lys491Gln missense ANKEF1 1 82856 1.20691E-5 41428 0 NA
20-10030700-A-G p.Asn495Asp missense ANKEF1 1 82818 1.20747E-5 41409 0 NA
20-10030704-T-A p.Ile496Asn missense ANKEF1 6 82814 7.24515E-5 41407 0 4.94438E-5
20-10030707-A-G p.Asn497Ser missense ANKEF1 3 82816 3.62249E-5 41408 0 1.27364E-4
20-10030723-A-G p.Ala502Ala synonymous ANKEF1 1 82768 1.2082E-5 41384 0 NA
20-10030724-G-A p.Gly503Arg missense ANKEF1 2 82774 2.41622E-5 41387 0 3.1841E-5
20-10030751-T-G p.Phe512Val missense ANKEF1 1 82808 1.20761E-5 41404 0 NA
20-10030761-GA-G p.Ile516fs frameshift ANKEF1 3 82824 3.62214E-5 41412 0 3.98537E-6
20-10030762-A-G p.Gly515Gly synonymous ANKEF1 1 82818 1.20747E-5 41409 0 NA
20-10030776-T-C p.Met520Thr missense ANKEF1 26 82920 3.13555E-4 41460 2 0.00151057
20-10030800-C-A p.Pro528Gln missense ANKEF1 11 82996 1.32537E-4 41498 0 8.38484E-5
20-10030800-C-T p.Pro528Leu missense ANKEF1 2 82996 2.40975E-5 41498 0 2.39567E-5
20-10030801-G-A p.Pro528Pro synonymous ANKEF1 1 82996 1.20488E-5 41498 0 1.59771E-5
20-10030809-C-T p.Thr531Met missense ANKEF1 1 83028 1.20441E-5 41514 0 3.18512E-5
20-10030813-G-A p.Ala532Ala synonymous ANKEF1 2 83032 2.40871E-5 41516 0 6.36943E-5
20-10030827-A-G p.Asn537Ser missense ANKEF1 1 83034 1.20433E-5 41517 0 NA
20-10030830-T-C p.Ile538Thr missense ANKEF1 1 83042 1.20421E-5 41521 0 8.41822E-6
20-10030844-TTTC-T p.Leu545del conservative_inframe_deletion ANKEF1 1 82980 1.20511E-5 41490 0 8.53257E-6
20-10030857-AAG-A p.Gly548fs frameshift ANKEF1 2 82876 2.41324E-5 41438 0 3.18431E-5
20-10030860-G-GAGCTAAC c.1643_1643+1insAGCTAAC splice_donor ANKEF1 1 82818 1.20747E-5 41409 0 NA
20-10030864-C-T c.1643+4C>T splice_region ANKEF1 1 82610 1.21051E-5 41305 0 4.70991E-5
20-10030867-G-A c.1643+7G>A splice_region ANKEF1 1 82390 1.21374E-5 41195 0 3.71533E-5
20-10032318-G-A p.Val551Ile missense ANKEF1 4 81916 4.88305E-5 40958 0 8.30924E-6
20-10032323-T-C p.Asn552Asn synonymous ANKEF1 4 82038 4.87579E-5 41019 0 1.99855E-5
20-10032329-A-C p.Thr554Thr synonymous ANKEF1 3 82098 3.65417E-5 41049 0 6.36699E-5
20-10032335-C-G p.Asn556Lys missense ANKEF1 5 82156 6.08598E-5 41078 0 7.98735E-5
20-10032341-G-C p.Leu558Leu synonymous ANKEF1 1 82218 1.21628E-5 41109 0 3.99233E-6
20-10032346-C-T p.Thr560Ile missense ANKEF1 4 82278 4.86157E-5 41139 0 4.1338E-5
20-10032351-C-T p.Leu562Phe missense ANKEF1 1 82332 1.21459E-5 41166 0 3.99071E-6
20-10032362-A-G p.Ala565Ala synonymous ANKEF1 27 82402 3.27662E-4 41201 0 5.03525E-4
20-10032367-A-G p.His567Arg missense ANKEF1 1 82434 1.21309E-5 41217 0 0.00100705
20-10032413-T-G p.Ala582Ala synonymous ANKEF1 22043 82526 0.267104 41263 3012 0.28375
20-10032413-T-A p.Ala582Ala synonymous ANKEF1 1 82782 1.20799E-5 41391 0 1.65355E-5
20-10032417-A-C p.Ile584Leu missense ANKEF1 2 82818 2.41493E-5 41409 0 NA
20-10032432-A-G p.Ile589Val missense ANKEF1 172 82900 0.00207479 41450 2 0.00506305
20-10032447-C-G p.Pro594Ala missense ANKEF1 1 82982 1.20508E-5 41491 0 NA
20-10032449-T-A p.Pro594Pro synonymous ANKEF1 1 82994 1.20491E-5 41497 0 NA
20-10032449-T-C p.Pro594Pro synonymous ANKEF1 1 82994 1.20491E-5 41497 0 NA
20-10032460-C-T p.Ala598Val missense ANKEF1 1 83030 1.20438E-5 41515 0 NA
20-10032480-G-A p.Asp605Asn missense ANKEF1 2 83046 2.4083E-5 41523 0 3.99049E-6
20-10032485-A-G p.Thr606Thr synonymous ANKEF1 1 83028 1.20441E-5 41514 0 3.99218E-6
20-10032504-AT-A p.Ile613fs frameshift ANKEF1 1 82964 1.20534E-5 41482 0 NA
20-10032524-G-A p.Leu619Leu synonymous ANKEF1 3 82776 3.62424E-5 41388 0 5.04541E-4
20-10032525-G-GA p.Asn621fs frameshift ANKEF1 1 82770 1.20817E-5 41385 0 3.18674E-5
20-10032526-A-G p.Glu620Gly missense ANKEF1 1 82766 1.20823E-5 41383 0 NA
20-10032531-A-G p.Arg622Gly missense ANKEF1 1 82704 1.20913E-5 41352 0 NA
20-10032532-G-A p.Arg622Lys missense ANKEF1 2 82686 2.41879E-5 41343 0 NA
20-10032537-G-A p.Gly624Arg missense+splice_region ANKEF1 1 82566 1.21115E-5 41283 0 NA
20-10032537-G-T p.Gly624Trp missense+splice_region ANKEF1 1 82566 1.21115E-5 41283 0 NA
20-10032540-A-G c.1870+3A>G splice_region ANKEF1 1 82514 1.21192E-5 41257 0 1.14655E-5
20-10032544-G-A c.1870+7G>A splice_region ANKEF1 13 82356 1.57851E-4 41178 0 1.77557E-4
20-10032544-G-C c.1870+7G>C splice_region ANKEF1 1 82358 1.21421E-5 41179 0 NA
20-10033756-A-G c.1871-4A>G splice_region ANKEF1 1 82492 1.21224E-5 41246 0 NA
20-10033764-T-C p.His625His synonymous ANKEF1 4 82588 4.84332E-5 41294 0 3.47084E-5
20-10033771-A-G p.Met628Val missense ANKEF1 1 82694 1.20928E-5 41347 0 NA
20-10033776-C-T p.Asp629Asp synonymous ANKEF1 2 82736 2.41733E-5 41368 0 3.18532E-5
20-10033777-G-T p.Val630Phe missense ANKEF1 1 82760 1.20831E-5 41380 0 4.18246E-6
20-10033777-G-A p.Val630Ile missense ANKEF1 1 82760 1.20831E-5 41380 0 5.95086E-5
20-10033788-A-G p.Ala633Ala synonymous ANKEF1 3 82798 3.62328E-5 41399 0 4.07368E-6
20-10033791-T-C p.Tyr634Tyr synonymous ANKEF1 2 82808 2.41523E-5 41404 0 7.64283E-4
20-10033800-T-C p.Tyr637Tyr synonymous ANKEF1 2 82878 2.41319E-5 41439 0 3.18573E-5
20-10033811-A-G p.Asp641Gly missense ANKEF1 1 82900 1.20627E-5 41450 0 1.60785E-5
20-10033814-T-G p.Leu642Arg missense ANKEF1 1 82912 1.2061E-5 41456 0 NA
20-10033816-A-T p.Ile643Phe missense ANKEF1 1 82902 1.20624E-5 41451 0 NA
20-10033823-A-C p.Glu645Ala missense ANKEF1 1 82942 1.20566E-5 41471 0 NA
20-10033828-C-A p.Leu647Ile missense ANKEF1 2 82948 2.41115E-5 41474 0 1.5949E-5
20-10033841-C-T p.Pro651Leu missense ANKEF1 1 82972 1.20523E-5 41486 0 9.55718E-5
20-10033842-G-A p.Pro651Pro synonymous ANKEF1 20 82966 2.41063E-4 41483 0 1.59398E-4
20-10033846-C-T p.Pro653Ser missense ANKEF1 1 83014 1.20462E-5 41507 0 NA
20-10033847-C-G p.Pro653Arg missense ANKEF1 2 83026 2.40888E-5 41513 0 7.97804E-6
20-10033848-A-T p.Pro653Pro synonymous ANKEF1 1 83028 1.20441E-5 41514 0 NA
20-10033871-G-A p.Gly661Asp missense ANKEF1 19 83072 2.28717E-4 41536 0 0.00100705
20-10033880-C-T p.Pro664Leu missense ANKEF1 3 83078 3.61106E-5 41539 0 6.37064E-5
20-10033883-C-A p.Pro665His missense ANKEF1 1 83074 1.20375E-5 41537 0 NA
20-10033884-T-C p.Pro665Pro synonymous ANKEF1 2 83068 2.40767E-5 41534 0 6.36943E-5
20-10033887-A-G p.Ile666Met missense ANKEF1 1 83062 1.20392E-5 41531 0 6.37064E-5
20-10033894-A-G p.Thr669Ala missense ANKEF1 3 83020 3.61359E-5 41510 0 NA
20-10033901-G-T p.Gly671Val missense ANKEF1 2 83000 2.40964E-5 41500 0 NA
20-10033913-A-G p.Lys675Arg missense ANKEF1 1 82984 1.20505E-5 41492 0 NA
20-10033919-A-G p.Glu677Gly missense ANKEF1 1 82934 1.20578E-5 41467 0 NA
20-10033920-A-T p.Glu677Asp missense ANKEF1 1 82936 1.20575E-5 41468 0 NA
20-10033921-G-A p.Glu678Lys missense+splice_region ANKEF1 60 82930 7.23502E-4 41465 0 0.00149853
20-10033923-G-A p.Glu678Glu splice_region+synonymous ANKEF1 1 82924 1.20592E-5 41462 0 1.69002E-5
20-10035116-C-A p.Leu681Met missense ANKEF1 2 82282 2.43067E-5 41141 0 6.37186E-5
20-10035120-C-A p.Ser682* stop_gained ANKEF1 12 82320 1.45773E-4 41160 0 0.00201613
20-10035125-A-G p.Ile684Val missense ANKEF1 2 82506 2.42407E-5 41253 0 9.7445E-6
20-10035130-T-C p.Tyr685Tyr synonymous ANKEF1 1 82640 1.21007E-5 41320 0 NA
20-10035138-CA-C p.Thr689fs frameshift ANKEF1 2 82718 2.41785E-5 41359 0 4.2754E-6
20-10035140-A-G p.Thr689Ala missense ANKEF1 27 82748 3.26292E-4 41374 0 7.64477E-4
20-10035143-A-G p.Thr690Ala missense ANKEF1 1 82762 1.20828E-5 41381 0 NA
20-10035147-C-A p.Ser691* stop_gained ANKEF1 1 82780 1.20802E-5 41390 0 NA
20-10035169-G-A p.Lys698Lys synonymous ANKEF1 1 82882 1.20653E-5 41441 0 NA
20-10035179-G-T p.Val702Phe missense ANKEF1 1 82874 1.20665E-5 41437 0 5.03525E-4
20-10035209-T-C p.Tyr712His missense ANKEF1 6 82792 7.24708E-5 41396 0 8.26692E-6
20-10035210-A-T p.Tyr712Phe missense ANKEF1 1 82790 1.20788E-5 41395 0 2.54777E-4
20-10035212-A-G p.Thr713Ala missense ANKEF1 2 82778 2.4161E-5 41389 0 8.26679E-6
20-10035225-A-G p.Asp717Gly missense ANKEF1 1 82624 1.2103E-5 41312 0 NA
20-10035239-C-A p.Pro722Thr missense ANKEF1 1 82420 1.2133E-5 41210 0 3.18613E-5
20-10035242-C-A p.Arg723Arg synonymous ANKEF1 2 82380 2.42777E-5 41190 0 2.47954E-5
20-10035242-C-T p.Arg723Trp missense ANKEF1 5 82380 6.06943E-5 41190 0 6.25E-4
20-10035243-G-C p.Arg723Pro missense ANKEF1 1 82346 1.21439E-5 41173 0 4.13538E-6
20-10035247-G-GATTTGGA c.2172_2172+1insATTTGGA splice_donor ANKEF1 2 82292 2.43037E-5 41146 1 NA
20-10035247-G-GATTTGGAGTCCTGAAGCCACAACAGCA c.2172_2172+1insATTTGGAGTCCTGAAGCCACAACAGCA splice_donor ANKEF1 2 82292 2.43037E-5 41146 1 NA
20-10036151-T-G p.Ile725Ser missense+splice_region ANKEF1 6 82960 7.2324E-5 41480 0 0.00100705
20-10036155-G-T p.Trp726Cys missense ANKEF1 2 82954 2.41097E-5 41477 0 NA
20-10036171-A-G p.Thr732Ala missense ANKEF1 1 83054 1.20404E-5 41527 0 1.65489E-5
20-10036176-A-T p.Ala733Ala synonymous ANKEF1 2 83080 2.40732E-5 41540 0 3.98483E-6
20-10036180-C-G p.Leu735Val missense ANKEF1 1 83090 1.20351E-5 41545 0 2.48205E-5
20-10036192-A-G p.Arg739Gly missense ANKEF1 1 83108 1.20325E-5 41554 0 3.18512E-5
20-10036201-C-T p.Arg742Trp missense ANKEF1 2 83148 2.40535E-5 41574 0 1.2401E-4
20-10036202-G-A p.Arg742Gln missense ANKEF1 8300 83016 0.0999807 41508 458 0.105424
20-10036203-G-A p.Arg742Arg synonymous ANKEF1 1 83154 1.20259E-5 41577 0 8.2616E-6
20-10036204-C-T p.Arg743* stop_gained ANKEF1 3 83150 3.60794E-5 41575 0 1.56978E-4
20-10036204-CGA-C p.Arg745fs frameshift ANKEF1 1 83150 1.20265E-5 41575 0 3.18573E-5
20-10036205-G-A p.Arg743Gln missense ANKEF1 2 83162 2.40494E-5 41581 0 6.37105E-5
20-10036217-C-A p.Thr747Lys missense ANKEF1 1 83168 1.20239E-5 41584 0 NA
20-10036228-G-A p.Asp751Asn missense ANKEF1 2 83174 2.4046E-5 41587 0 NA
20-10036230-C-T p.Asp751Asp synonymous ANKEF1 8 83170 9.61885E-5 41585 0 3.18492E-5
20-10036233-C-T p.Phe752Phe synonymous ANKEF1 3 83166 3.60724E-5 41583 0 6.37105E-5
20-10036234-G-A p.Asp753Asn missense ANKEF1 1 83166 1.20241E-5 41583 0 NA
20-10036237-G-C p.Asp754His missense ANKEF1 1 83168 1.20239E-5 41584 0 NA
20-10036279-C-T p.Arg768* stop_gained ANKEF1 1 82990 1.20496E-5 41495 0 8.25137E-6
20-10036280-G-A p.Arg768Gln missense ANKEF1 2 82986 2.41005E-5 41493 0 1.32022E-4
20-10036304-C-T p.Thr776Ile missense ANKEF1 2 82780 2.41604E-5 41390 0 NA
20-10036307-A-G p.Ter777Ter stop_retained ANKEF1 1 82734 1.20869E-5 41367 0 3.98657E-6