Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-54230871-A-G p.Met1? start_lost ANKFN1 1 82508 1.212E-5 41254 0 3.98134E-6
17-54230874-G-C p.Glu2Gln missense ANKFN1 2 82564 2.42236E-5 41282 0 9.8881E-5
17-54230878-C-T p.Ala3Val missense ANKFN1 1 82524 1.21177E-5 41262 0 4.11984E-5
17-54230879-G-T p.Ala3Ala synonymous ANKFN1 1 82516 1.21189E-5 41258 0 7.96318E-6
17-54230879-GT-TA p.AlaSer3AlaThr missense ANKFN1 1 82516 1.21189E-5 41258 0 NA
17-54230880-T-A p.Ser4Thr missense ANKFN1 1 82502 1.21209E-5 41251 0 7.96286E-6
17-54230890-G-A p.Arg7Lys missense+splice_region ANKFN1 1 82466 1.21262E-5 41233 0 3.98191E-6
17-54251683-T-A p.Met1? start_lost ANKFN1 1 25058 3.99074E-5 12529 0 NA
17-54251734-C-A p.Ala18Asp missense ANKFN1 1 25128 3.97962E-5 12564 0 NA
17-54251746-AG-A p.Gly23fs frameshift ANKFN1 2 25136 7.95672E-5 12568 0 1.27437E-4
17-54251750-A-G p.Gly23Gly synonymous ANKFN1 1 25136 3.97836E-5 12568 0 NA
17-54251765-T-A c.81+3T>A splice_region ANKFN1 67 25098 0.00266954 12549 0 0.00273833
17-54251770-T-C c.81+8T>C splice_region ANKFN1 1 25090 3.98565E-5 12545 0 NA
17-54305271-G-T c.22-7G>T splice_region ANKFN1 1 80582 1.24097E-5 40291 0 6.25E-4
17-54305279-G-A p.Arg8Lys missense+splice_region ANKFN1 6 80958 7.41125E-5 40479 0 4.14219E-6
17-54305290-A-G p.Lys12Glu missense ANKFN1 1 81280 1.23031E-5 40640 0 1.63592E-5
17-54305312-G-A p.Ser19Asn missense ANKFN1 2 81636 2.4499E-5 40818 0 8.7014E-6
17-54305318-T-A p.Ile21Lys missense+splice_region ANKFN1 79 81672 9.67284E-4 40836 0 0.00223086
17-54305319-G-T c.62+1G>T splice_donor ANKFN1 6 81666 7.347E-5 40833 0 1.30598E-4
17-54305319-G-A c.62+1G>A splice_donor ANKFN1 3 81666 3.6735E-5 40833 0 2.05167E-5
17-54305319-G-C c.62+1G>C splice_donor ANKFN1 1 81666 1.2245E-5 40833 0 NA
17-54305325-A-C c.62+7A>C splice_region ANKFN1 1 81682 1.22426E-5 40841 0 9.56206E-5
17-54403586-G-A p.Gly23Arg missense ANKFN1 2 82816 2.41499E-5 41408 0 4.01997E-5
17-54403597-C-T p.Phe26Phe synonymous ANKFN1 2 82834 2.41447E-5 41417 0 5.03525E-4
17-54403598-G-A p.Ala27Thr missense ANKFN1 1 82834 1.20723E-5 41417 0 3.20965E-5
17-54403615-G-T p.Arg32Ser missense ANKFN1 2 82876 2.41324E-5 41438 0 3.1839E-5
17-54403615-G-C p.Arg32Ser missense ANKFN1 10 82876 1.20662E-4 41438 0 3.71981E-4
17-54403620-G-T p.Ser34Ile missense ANKFN1 1 82906 1.20619E-5 41453 0 3.1839E-5
17-54403621-C-A p.Ser34Arg missense ANKFN1 1 82892 1.20639E-5 41446 0 NA
17-54403633-G-A p.Lys38Lys synonymous ANKFN1 1 82946 1.2056E-5 41473 0 1.65049E-5
17-54403639-C-T p.Ser40Ser synonymous ANKFN1 1 82958 1.20543E-5 41479 0 NA
17-54403669-A-G p.Gly50Gly synonymous ANKFN1 2 83074 2.40749E-5 41537 0 1.65158E-5
17-54403670-C-A p.Gln51Lys missense ANKFN1 7 83084 8.42521E-5 41542 0 NA
17-54403683-C-A p.Thr55Asn missense ANKFN1 6 83094 7.22074E-5 41547 0 2.22873E-4
17-54403702-G-A p.Ser61Ser synonymous ANKFN1 4 83036 4.81719E-5 41518 0 3.1841E-5
17-54428121-T-C c.198-6T>C splice_region ANKFN1 1 82560 1.21124E-5 41280 0 NA
17-54428134-C-T p.Arg69Cys missense ANKFN1 3 82710 3.62713E-5 41355 0 4.13852E-5
17-54428135-G-A p.Arg69His missense ANKFN1 5 82722 6.04434E-5 41361 0 0.00100705
17-54428147-C-T p.Thr73Met missense ANKFN1 32 82846 3.86259E-4 41423 0 0.00125
17-54428148-G-A p.Thr73Thr synonymous ANKFN1 1 82850 1.207E-5 41425 0 1.65317E-5
17-54428152-C-G p.Gln75Glu missense ANKFN1 1 82906 1.20619E-5 41453 0 NA
17-54428156-T-C p.Met76Thr missense ANKFN1 5 82956 6.02729E-5 41478 0 1.15651E-4
17-54428161-A-G p.Asn78Asp missense ANKFN1 2 82968 2.41057E-5 41484 0 1.65175E-5
17-54428168-ATC-A p.Cys82fs frameshift ANKFN1 4 82972 4.8209E-5 41486 1 7.96768E-6
17-54428169-T-G p.His80Gln missense ANKFN1 1 82968 1.20528E-5 41484 0 NA
17-54428177-A-G p.Gln83Arg missense ANKFN1 3 83000 3.61446E-5 41500 0 3.58526E-5
17-54428179-T-C p.Ser84Pro missense ANKFN1 2 83000 2.40964E-5 41500 0 NA
17-54428188-C-T p.His87Tyr missense ANKFN1 10 83026 1.20444E-4 41513 0 1.23815E-4
17-54428190-T-C p.His87His synonymous ANKFN1 1 83028 1.20441E-5 41514 0 NA
17-54428195-C-T p.Ala89Val missense ANKFN1 1 83014 1.20462E-5 41507 0 2.47635E-5
17-54428197-C-T p.Pro90Ser missense ANKFN1 1 83016 1.20459E-5 41508 0 NA
17-54428211-C-T p.Asn94Asn synonymous ANKFN1 2 82974 2.41039E-5 41487 0 6.37064E-5
17-54428212-G-A p.Ala95Thr missense ANKFN1 1 82960 1.2054E-5 41480 0 3.98699E-6
17-54428216-C-T p.Ala96Val missense ANKFN1 4 82938 4.82288E-5 41469 0 5.18184E-5
17-54428221-C-A p.Arg98Ser missense ANKFN1 3 82914 3.61821E-5 41457 0 2.79089E-5
17-54428221-C-T p.Arg98Cys missense ANKFN1 1 82914 1.20607E-5 41457 0 9.96747E-5
17-54428222-G-A p.Arg98His missense ANKFN1 5 82898 6.03151E-5 41449 0 3.19045E-5
17-54428226-G-A p.Leu99Leu synonymous ANKFN1 3 82892 3.61917E-5 41446 0 3.98686E-6
17-54428233-A-C p.Asn102His missense ANKFN1 1 82866 1.20677E-5 41433 0 NA
17-54428243-A-C p.Glu105Ala missense ANKFN1 1 82826 1.20735E-5 41413 0 8.26405E-6
17-54428244-G-A p.Glu105Glu synonymous ANKFN1 1 82816 1.2075E-5 41408 0 7.97582E-6
17-54428262-C-T p.His111His synonymous ANKFN1 1 82760 1.20831E-5 41380 0 NA
17-54428271-C-T p.Phe114Phe synonymous ANKFN1 3 82750 3.62538E-5 41375 0 5.03525E-4
17-54428272-G-A p.Asp115Asn missense ANKFN1 2 82748 2.41698E-5 41374 0 3.18634E-5
17-54428278-G-A p.Ala117Thr missense ANKFN1 1 82762 1.20828E-5 41381 0 3.98845E-6
17-54428292-A-G p.Thr121Thr synonymous ANKFN1 8 82820 9.6595E-5 41410 0 2.22887E-4
17-54428298-T-A p.Thr123Thr synonymous ANKFN1 3 82810 3.62275E-5 41405 0 NA
17-54428299-G-T p.Asp124Tyr missense ANKFN1 2 82814 2.41505E-5 41407 0 1.19696E-5
17-54428303-G-A p.Arg125Gln missense ANKFN1 5 82830 6.03646E-5 41415 0 5.9864E-5
17-54428305-C-G p.Leu126Val missense ANKFN1 1 82820 1.20744E-5 41410 0 NA
17-54428315-G-A p.Arg129Lys missense ANKFN1 1 82840 1.20715E-5 41420 0 3.18512E-5
17-54431189-C-T c.400-8C>T splice_region ANKFN1 1 82530 1.21168E-5 41265 0 8.29105E-6
17-54431191-C-G c.400-6C>G splice_region ANKFN1 1 82576 1.21101E-5 41288 0 NA
17-54431202-C-T p.Phe135Phe synonymous ANKFN1 1 82734 1.20869E-5 41367 0 NA
17-54431220-G-A p.Met141Ile missense ANKFN1 47 82852 5.67277E-4 41426 0 0.0019428
17-54431233-G-A p.Glu146Lys missense ANKFN1 3 82868 3.62022E-5 41434 0 9.55779E-5
17-54431241-G-A p.Gln148Gln synonymous ANKFN1 1 82902 1.20624E-5 41451 0 NA
17-54431242-G-T p.Asp149Tyr missense ANKFN1 23 82902 2.77436E-4 41451 0 6.37024E-4
17-54431242-G-A p.Asp149Asn missense ANKFN1 1 82902 1.20624E-5 41451 0 NA
17-54431245-A-G p.Met150Val missense ANKFN1 6 82892 7.23833E-5 41446 0 1.40334E-4
17-54431246-T-C p.Met150Thr missense ANKFN1 1 82896 1.20633E-5 41448 0 8.25478E-6
17-54431253-T-C p.Ala152Ala synonymous ANKFN1 1 82922 1.20595E-5 41461 0 NA
17-54431290-C-T p.Leu165Phe missense ANKFN1 2 83030 2.40877E-5 41515 0 3.98283E-6
17-54431295-C-G p.Asp166Glu missense ANKFN1 5 83030 6.02192E-5 41515 0 2.47611E-5
17-54431296-C-T p.Leu167Phe missense ANKFN1 1 83032 1.20435E-5 41516 0 8.25396E-6
17-54431301-C-T p.Asn168Asn synonymous ANKFN1 5 83062 6.0196E-5 41531 0 8.25518E-6
17-54431307-T-G p.Pro170Pro synonymous ANKFN1 61 83050 7.34497E-4 41525 0 0.001115
17-54431312-G-GC p.Glu173fs frameshift ANKFN1 1 83054 1.20404E-5 41527 0 NA
17-54431313-C-T p.Ser172Ser synonymous ANKFN1 1 83048 1.20412E-5 41524 0 4.12875E-5
17-54431314-G-A p.Glu173Lys missense ANKFN1 11 83038 1.32469E-4 41519 0 6.25E-4
17-54431334-T-C p.Asp179Asp synonymous ANKFN1 1 83072 1.20378E-5 41536 0 NA
17-54431341-A-G p.Ile182Val missense ANKFN1 1 83086 1.20357E-5 41543 0 NA
17-54431360-C-A p.Pro188His missense ANKFN1 1 83086 1.20357E-5 41543 0 3.18593E-5
17-54431362-A-G p.Ile189Val missense ANKFN1 1 83092 1.20349E-5 41546 0 NA
17-54431364-T-C p.Ile189Ile synonymous ANKFN1 2613 83028 0.0314713 41514 200 0.058726
17-54431364-TG-CA p.IleAla189IleThr missense ANKFN1 1 83062 1.20392E-5 41531 0 NA
17-54431368-A-G p.Arg191Gly missense ANKFN1 1 83068 1.20383E-5 41534 0 NA
17-54431392-C-T p.Arg199* stop_gained ANKFN1 1 82970 1.20525E-5 41485 0 3.18593E-5
17-54431395-G-A p.Glu200Lys missense ANKFN1 1 82966 1.20531E-5 41483 0 NA
17-54431396-A-G p.Glu200Gly missense ANKFN1 1 82956 1.20546E-5 41478 0 8.55256E-6
17-54450000-C-G c.611-7C>G splice_region ANKFN1 1 82308 1.21495E-5 41154 0 NA
17-54450011-C-T p.Val205Val synonymous ANKFN1 1 82550 1.21139E-5 41275 0 NA
17-54450011-C-A p.Val205Val synonymous ANKFN1 1 82550 1.21139E-5 41275 0 NA
17-54450024-C-T p.Arg210* stop_gained ANKFN1 1 82784 1.20796E-5 41392 0 8.24837E-6
17-54450031-T-C p.Met212Thr missense ANKFN1 1 82918 1.20601E-5 41459 0 NA
17-54450032-G-A p.Met212Ile missense ANKFN1 1 82932 1.20581E-5 41466 0 4.12256E-5
17-54450038-C-A p.Leu214Leu synonymous ANKFN1 50846 81260 0.62572 40630 16573 0.682053
17-54450038-C-T p.Leu214Leu synonymous ANKFN1 2 82996 2.40975E-5 41498 0 3.20225E-5
17-54450048-G-T p.Val218Phe missense ANKFN1 1 83050 1.20409E-5 41525 0 NA
17-54450068-G-A p.Arg224Arg synonymous ANKFN1 3 83108 3.60976E-5 41554 0 1.64747E-5
17-54450073-G-A p.Ser226Asn missense ANKFN1 421 83108 0.0050657 41554 5 0.0107075
17-54450099-G-A p.Glu235Lys missense ANKFN1 1 83104 1.20331E-5 41552 0 NA
17-54450101-A-G p.Glu235Glu synonymous ANKFN1 9 83096 1.08308E-4 41548 0 6.37592E-5
17-54450116-C-A p.Asp240Glu missense ANKFN1 1 83046 1.20415E-5 41523 0 NA
17-54450122-A-C p.Thr242Thr synonymous ANKFN1 1 83044 1.20418E-5 41522 0 1.19452E-5
17-54450122-AG-CT p.ThrGlu242* stop_gained ANKFN1 1 83044 1.20418E-5 41522 0 NA
17-54450134-G-A p.Lys246Lys synonymous ANKFN1 56259 82276 0.683784 41138 19838 0.731066
17-54450139-T-C p.Leu248Pro missense ANKFN1 1 82984 1.20505E-5 41492 0 NA
17-54450152-G-A p.Glu252Glu synonymous ANKFN1 1 83010 1.20467E-5 41505 0 NA
17-54450155-G-A p.Trp253* stop_gained ANKFN1 1 82998 1.20485E-5 41499 0 NA
17-54450157-G-C p.Arg254Thr missense ANKFN1 1 82982 1.20508E-5 41491 0 3.98346E-6
17-54450162-C-T p.Arg256Trp missense ANKFN1 1 82954 1.20549E-5 41477 0 5.03525E-4
17-54450167-C-G p.Leu257Leu synonymous ANKFN1 1 82938 1.20572E-5 41469 0 NA
17-54450187-G-A p.Gly264Asp missense ANKFN1 2 82808 2.41523E-5 41404 0 1.65044E-5
17-54450196-A-G p.His267Arg missense ANKFN1 4 82724 4.83536E-5 41362 0 8.83392E-5
17-54451957-C-T c.806-5C>T splice_region ANKFN1 1 82980 1.20511E-5 41490 0 NA
17-54451976-C-A p.Pro274Thr missense ANKFN1 1 83106 1.20328E-5 41553 0 3.98413E-6
17-54451994-A-G p.Met280Val missense ANKFN1 1 83114 1.20317E-5 41557 0 NA
17-54452003-A-G p.Ser283Gly missense ANKFN1 1 83100 1.20337E-5 41550 0 NA
17-54452004-G-T p.Ser283Ile missense ANKFN1 1 83096 1.20343E-5 41548 0 NA
17-54452010-C-T p.Thr285Ile missense ANKFN1 2 83088 2.40709E-5 41544 0 8.23913E-6
17-54452037-C-A p.Pro294His missense ANKFN1 2 83008 2.40941E-5 41504 0 0.002261
17-54452043-G-T p.Ser296Ile missense ANKFN1 1 82954 1.20549E-5 41477 0 NA
17-54452044-C-T p.Ser296Ser synonymous ANKFN1 1 82936 1.20575E-5 41468 0 4.77977E-5
17-54452045-G-A p.Val297Ile missense ANKFN1 4 82952 4.82207E-5 41476 0 6.25E-4
17-54452048-A-G p.Asn298Asp missense ANKFN1 3 82922 3.61786E-5 41461 0 4.12099E-5
17-54452057-G-A p.Val301Ile missense ANKFN1 9 82844 1.08638E-4 41422 0 6.36821E-5
17-54452066-AG-A p.Arg304fs frameshift ANKFN1 1 82736 1.20866E-5 41368 0 1.65027E-5
17-54517704-C-T p.Ser312Ser synonymous ANKFN1 12 81924 1.46477E-4 40962 0 0.00125
17-54517705-G-C p.Glu313Gln missense ANKFN1 6 81976 7.31922E-5 40988 0 6.40143E-5
17-54517705-G-A p.Glu313Lys missense ANKFN1 1 81978 1.21984E-5 40989 0 1.27486E-4
17-54517715-C-A p.Ser316Tyr missense ANKFN1 2 82156 2.43439E-5 41078 0 NA
17-54517717-C-T p.Pro317Ser missense ANKFN1 2 82164 2.43416E-5 41082 0 1.59256E-4
17-54517723-G-T p.Ala319Ser missense ANKFN1 1 82170 1.21699E-5 41085 0 NA
17-54517737-C-T p.Ile323Ile synonymous ANKFN1 2 82138 2.43493E-5 41069 0 1.65333E-5
17-54517744-A-G p.Asn326Asp missense ANKFN1 7 82096 8.5266E-5 41048 0 1.2738E-4
17-54517753-A-AGG p.Thr329fs frameshift ANKFN1 1 82042 1.21889E-5 41021 0 3.9977E-6
17-54517754-C-G p.Thr329Ser missense ANKFN1 1 82036 1.21898E-5 41018 0 3.99805E-6
17-54517764-C-T p.Cys332Cys synonymous ANKFN1 1 81922 1.22067E-5 40961 0 3.18492E-5
17-54517781-C-A p.Thr338Lys missense ANKFN1 1 81692 1.22411E-5 40846 0 NA
17-54517782-A-C p.Thr338Thr synonymous ANKFN1 1 81674 1.22438E-5 40837 0 NA
17-54517783-A-C p.Met339Leu missense+splice_region ANKFN1 1 81642 1.22486E-5 40821 0 4.0067E-6
17-54517784-T-C p.Met339Thr missense+splice_region ANKFN1 1 81630 1.22504E-5 40815 0 4.00814E-6
17-54517790-A-G c.1017+5A>G splice_region ANKFN1 2 81462 2.45513E-5 40731 0 NA
17-54520198-T-C c.1018-6T>C splice_region ANKFN1 1 82402 1.21356E-5 41201 0 8.28089E-6
17-54520199-T-C c.1018-5T>C splice_region ANKFN1 3020 82258 0.0367138 41129 303 0.0746302
17-54520211-A-T p.Gln342Leu missense ANKFN1 73 82442 8.85471E-4 41221 0 0.00147151
17-54520222-C-T p.Gln346* stop_gained ANKFN1 1 82428 1.21318E-5 41214 0 NA
17-54520230-G-A p.Ser348Ser synonymous ANKFN1 1 82406 1.2135E-5 41203 0 5.04032E-4
17-54520248-A-G p.Gly354Gly synonymous ANKFN1 2 82344 2.42884E-5 41172 0 NA
17-54520257-T-C p.Pro357Pro synonymous ANKFN1 2 82250 2.43161E-5 41125 0 NA
17-54520268-C-T p.Thr361Met missense ANKFN1 4 82168 4.86808E-5 41084 0 1.82071E-4
17-54520269-G-A p.Thr361Thr synonymous ANKFN1 2 82144 2.43475E-5 41072 0 2.48295E-5
17-54520273-C-G p.Pro363Ala missense ANKFN1 4 82056 4.87472E-5 41028 0 NA
17-54520274-C-T p.Pro363Leu missense ANKFN1 5 82054 6.09355E-5 41027 0 6.37511E-5
17-54520275-G-A p.Pro363Pro synonymous ANKFN1 5 82026 6.09563E-5 41013 0 3.5939E-5
17-54520278-A-G p.Ala364Ala synonymous ANKFN1 1 81998 1.21954E-5 40999 0 3.99297E-6
17-54520280-G-A p.Cys365Tyr missense ANKFN1 1 81954 1.2202E-5 40977 0 NA
17-54520282-G-T p.Ala366Ser missense ANKFN1 81 81914 9.88842E-4 40957 0 0.00375
17-54520294-A-G p.Asn370Asp missense+splice_region ANKFN1 1 81770 1.22294E-5 40885 0 1.66116E-5
17-54526456-C-T p.Asp375Asp synonymous ANKFN1 2 82174 2.43386E-5 41087 0 3.58489E-5
17-54526465-G-T p.Glu378Asp missense ANKFN1 1 82328 1.21465E-5 41164 0 3.98197E-6
17-54526477-G-A p.Lys382Lys synonymous ANKFN1 2 82438 2.42607E-5 41219 0 NA
17-54526504-G-A p.Leu391Leu synonymous ANKFN1 1 82524 1.21177E-5 41262 0 NA
17-54526506-T-C p.Leu392Pro missense ANKFN1 1 82506 1.21203E-5 41253 0 5.04541E-4
17-54526517-C-T p.Arg396* stop_gained ANKFN1 1 82422 1.21327E-5 41211 0 7.96343E-6
17-54526518-G-A p.Arg396Gln missense ANKFN1 1 82416 1.21336E-5 41208 0 7.96318E-6
17-54526523-C-G p.Leu398Val missense ANKFN1 2 82348 2.42872E-5 41174 0 1.64921E-5
17-54526533-A-G p.His401Arg missense ANKFN1 4 82162 4.86843E-5 41081 0 2.22973E-4
17-54526536-A-G p.Tyr402Cys missense ANKFN1 2 82078 2.43671E-5 41039 0 3.30158E-5
17-54526545-G-A p.Arg405Gln missense+splice_region ANKFN1 147 81704 0.00179918 40852 1 0.00250313
17-54526545-G-C p.Arg405Pro missense+splice_region ANKFN1 1 81714 1.22378E-5 40857 0 NA
17-54526550-A-G c.1216+3A>G splice_region ANKFN1 2 81566 2.452E-5 40783 0 8.28748E-6
17-54534214-C-T c.1217-8C>T splice_region ANKFN1 1 82952 1.20552E-5 41476 0 NA
17-54534215-A-G c.1217-7A>G splice_region ANKFN1 2 82986 2.41005E-5 41493 0 3.58126E-5
17-54534248-C-T p.Arg415Cys missense ANKFN1 4 83152 4.81047E-5 41576 0 4.3764E-5
17-54534249-G-A p.Arg415His missense ANKFN1 6 83158 7.21518E-5 41579 0 1.1936E-5
17-54534255-A-G p.Gln417Arg missense ANKFN1 3 83168 3.60716E-5 41584 0 8.25382E-5
17-54534261-T-TTATC p.Ser420fs frameshift ANKFN1 1 83158 1.20253E-5 41579 0 NA
17-54534264-C-G p.Ser420* stop_gained ANKFN1 3 83184 3.60646E-5 41592 0 NA
17-54534266-A-G p.Arg421Gly missense ANKFN1 1 83184 1.20215E-5 41592 0 NA
17-54534268-A-G p.Arg421Arg synonymous ANKFN1 134 83186 0.00161085 41593 1 0.00352467
17-54534271-C-A p.Ser422Arg missense ANKFN1 2 83188 2.40419E-5 41594 0 NA
17-54534271-C-G p.Ser422Arg missense ANKFN1 1 83188 1.2021E-5 41594 0 3.18634E-5
17-54534280-C-T p.His425His synonymous ANKFN1 1 83150 1.20265E-5 41575 0 NA
17-54534285-T-C p.Phe427Ser missense ANKFN1 5 83118 6.01554E-5 41559 0 3.1837E-5
17-54534287-C-T p.His428Tyr missense ANKFN1 2 83112 2.40639E-5 41556 0 3.97966E-6
17-54534294-C-T p.Ser430Leu missense ANKFN1 3 83060 3.61185E-5 41530 0 5.03525E-4
17-54534294-C-G p.Ser430Trp missense ANKFN1 1 83060 1.20395E-5 41530 0 NA
17-54534295-G-A p.Ser430Ser synonymous ANKFN1 1 83058 1.20398E-5 41529 0 1.65972E-5
17-54534309-A-G p.Lys435Arg missense ANKFN1 1 82954 1.20549E-5 41477 0 3.1837E-5
17-54534320-C-T p.Arg439Trp missense+splice_region ANKFN1 1 82822 1.20741E-5 41411 0 2.39143E-5
17-54534321-G-A p.Arg439Gln missense+splice_region ANKFN1 4 82782 4.83197E-5 41391 0 3.18613E-5
17-54534613-T-C c.1317-5T>C splice_region ANKFN1 1 82036 1.21898E-5 41018 0 NA
17-54534616-AG-A c.1317-1delG splice_acceptor ANKFN1 1 82074 1.21841E-5 41037 0 NA
17-54534624-C-G p.Leu441Leu synonymous ANKFN1 2 82328 2.42931E-5 41164 0 8.79275E-6
17-54534629-T-C p.Ile443Thr missense ANKFN1 69 82420 8.37175E-4 41210 0 0.00814536
17-54534633-C-T p.Ala444Ala synonymous ANKFN1 10 82472 1.21253E-4 41236 0 1.59408E-4
17-54534634-G-A p.Val445Ile missense ANKFN1 56275 79242 0.710166 39621 20051 0.749557
17-54534656-A-G p.Asn452Ser missense ANKFN1 1 82748 1.20849E-5 41374 0 3.18431E-5
17-54534670-A-G p.Asn457Asp missense ANKFN1 1 82858 1.20688E-5 41429 0 8.30606E-6
17-54534676-G-A p.Asp459Asn missense ANKFN1 2 82852 2.41394E-5 41426 0 NA
17-54534678-T-C p.Asp459Asp synonymous ANKFN1 37 82848 4.46601E-4 41424 0 0.0020666
17-54534679-C-CAAG p.Gln460_Val461insGlu disruptive_inframe_insertion ANKFN1 1 82852 1.20697E-5 41426 0 NA
17-54534713-C-A p.Thr471Asn missense ANKFN1 2 82826 2.4147E-5 41413 0 NA
17-54534714-C-T p.Thr471Thr synonymous ANKFN1 2 82826 2.4147E-5 41413 0 1.6501E-5
17-54534715-A-G p.Ser472Gly missense ANKFN1 1 82822 1.20741E-5 41411 0 8.33056E-6
17-54534747-G-A p.Thr482Thr synonymous ANKFN1 931 82546 0.0112786 41273 29 0.0238975
17-54534747-G-C p.Thr482Thr synonymous ANKFN1 2 82564 2.42236E-5 41282 0 4.48467E-6
17-54534755-A-C c.1449+5A>C splice_region ANKFN1 1 82460 1.21271E-5 41230 0 6.25E-4
17-54535219-T-C c.1450-5T>C splice_region ANKFN1 1 82450 1.21286E-5 41225 0 3.98689E-6
17-54535219-T-G c.1450-5T>G splice_region ANKFN1 1 82450 1.21286E-5 41225 0 NA
17-54535233-A-G p.Met487Val missense ANKFN1 1 82558 1.21127E-5 41279 0 8.24416E-6
17-54535248-A-G p.Arg492Gly missense ANKFN1 1 82648 1.20995E-5 41324 0 NA
17-54535265-C-T p.Ser497Ser synonymous ANKFN1 2 82660 2.41955E-5 41330 0 NA
17-54535266-A-G p.Ile498Val missense ANKFN1 132 82664 0.00159683 41332 1 0.0040282
17-54535266-A-C p.Ile498Leu missense ANKFN1 1 82668 1.20966E-5 41334 0 3.98203E-6
17-54535267-T-C p.Ile498Thr missense ANKFN1 1 82660 1.20978E-5 41330 0 NA
17-54535268-A-G p.Ile498Met missense ANKFN1 1 82660 1.20978E-5 41330 0 NA
17-54535272-A-G p.Ile500Val missense ANKFN1 3 82676 3.62862E-5 41338 0 3.18532E-5
17-54535274-A-G p.Ile500Met missense ANKFN1 2 82686 2.41879E-5 41343 0 NA
17-54535278-T-A p.Ser502Thr missense ANKFN1 1 82692 1.20931E-5 41346 0 NA
17-54535280-A-T p.Ser502Ser synonymous ANKFN1 8 82686 9.67516E-5 41343 0 6.37024E-5
17-54535285-C-T p.Ser504Leu missense ANKFN1 6 82668 7.25795E-5 41334 0 1.59298E-5
17-54535288-C-G p.Ser505Cys missense ANKFN1 2 82676 2.41908E-5 41338 0 5.03525E-4
17-54535291-C-T p.Thr506Ile missense ANKFN1 1 82684 1.20942E-5 41342 0 3.18613E-5
17-54535305-C-T p.Arg511Trp missense ANKFN1 5 82610 6.05254E-5 41305 0 0.001875
17-54535314-A-G p.Met514Val missense ANKFN1 1 82584 1.21089E-5 41292 0 3.18431E-5
17-54535320-G-A p.Ala516Thr missense ANKFN1 11 82502 1.3333E-4 41251 0 7.46851E-5
17-54535326-A-G p.Thr518Ala missense ANKFN1 1 82444 1.21294E-5 41222 0 NA
17-54535329-G-A p.Ala519Thr missense ANKFN1 1 82444 1.21294E-5 41222 0 3.98867E-6
17-54535337-ACAGGTAAGGGAC-A p.Gln522del splice_donor ANKFN1 1 82352 1.2143E-5 41176 0 NA
17-54535341-G-T c.1566+1G>T splice_donor ANKFN1 2 82306 2.42996E-5 41153 0 3.18512E-5
17-54543724-T-G p.Leu525Arg missense ANKFN1 1 83054 1.20404E-5 41527 0 3.98004E-6
17-54543729-A-T p.Thr527Ser missense ANKFN1 1 83076 1.20372E-5 41538 0 NA
17-54543730-C-T p.Thr527Ile missense ANKFN1 1 83094 1.20346E-5 41547 0 1.27389E-4
17-54543747-G-A p.Val533Ile missense ANKFN1 1 83138 1.20282E-5 41569 0 NA
17-54543772-G-A p.Arg541Gln missense ANKFN1 51 83178 6.13143E-4 41589 0 0.0015121
17-54543782-C-G p.Asn544Lys missense ANKFN1 1 83208 1.20181E-5 41604 0 NA
17-54543783-A-G p.Ile545Val missense ANKFN1 1 83206 1.20184E-5 41603 0 8.23764E-6
17-54543786-C-T p.Leu546Phe missense ANKFN1 1 83198 1.20195E-5 41599 0 NA
17-54543798-A-G p.Ile550Val missense ANKFN1 1 83182 1.20218E-5 41591 0 NA
17-54543814-T-G p.Met555Arg missense ANKFN1 1 83148 1.20267E-5 41574 0 2.47251E-5
17-54543820-A-G p.Tyr557Cys missense ANKFN1 1 83142 1.20276E-5 41571 0 NA
17-54543825-T-G p.Phe559Val missense ANKFN1 61 83138 7.3372E-4 41569 0 0.00137705
17-54543833-T-C p.Asn561Asn synonymous ANKFN1 1 83140 1.20279E-5 41570 0 6.37146E-5
17-54543850-T-C p.Ile567Thr missense ANKFN1 1 83126 1.20299E-5 41563 0 6.37105E-5
17-54543875-G-T p.Lys575Asn missense ANKFN1 1 83124 1.20302E-5 41562 0 8.6804E-6
17-54543877-C-T p.Ser576Phe missense ANKFN1 1 83128 1.20296E-5 41564 0 5.23706E-5
17-54543900-A-G p.Thr584Ala missense ANKFN1 1 83076 1.20372E-5 41538 0 3.18451E-5
17-54543914-T-A p.Ile588Ile synonymous ANKFN1 1 82984 1.20505E-5 41492 0 NA
17-54543932-G-A p.Gln594Gln splice_region+synonymous ANKFN1 2 82696 2.4185E-5 41348 0 NA
17-54554845-A-G c.1783-4A>G splice_region ANKFN1 2 81444 2.45567E-5 40722 0 7.59635E-5
17-54554850-A-T p.Asp595Val missense+splice_region ANKFN1 1 82110 1.21788E-5 41055 0 NA
17-54554855-C-T p.Leu597Leu synonymous ANKFN1 1 82410 1.21345E-5 41205 0 NA
17-54554880-A-C p.Gln605Pro missense ANKFN1 1 83046 1.20415E-5 41523 0 NA
17-54554882-C-A p.Arg606Ser missense ANKFN1 1 83058 1.20398E-5 41529 0 NA
17-54554882-C-T p.Arg606Cys missense ANKFN1 1 83058 1.20398E-5 41529 0 4.12977E-5
17-54554883-G-A p.Arg606His missense ANKFN1 7 83028 8.43089E-5 41514 0 6.41005E-5
17-54554899-A-G p.Leu611Leu synonymous ANKFN1 2 83144 2.40547E-5 41572 0 8.24824E-6
17-54554899-A-C p.Leu611Phe missense ANKFN1 1 83144 1.20273E-5 41572 0 NA
17-54554903-C-A p.Leu613Met missense ANKFN1 2 83170 2.40471E-5 41585 0 3.2586E-5
17-54554909-T-C p.Tyr615His missense ANKFN1 1 83202 1.20189E-5 41601 0 NA
17-54554918-C-T p.Leu618Phe missense ANKFN1 1 83232 1.20146E-5 41616 0 NA
17-54554924-A-G p.Ser620Gly missense ANKFN1 3 83232 3.60438E-5 41616 0 3.98016E-6
17-54554926-C-T p.Ser620Ser synonymous ANKFN1 26 83238 3.12357E-4 41619 0 0.004375
17-54554927-T-A p.Ser621Thr missense ANKFN1 2 83242 2.40263E-5 41621 0 6.42467E-5
17-54554927-TC-AT p.Ser621Ile missense ANKFN1 1 83242 1.20132E-5 41621 0 NA
17-54554928-C-T p.Ser621Phe missense ANKFN1 2 83236 2.40281E-5 41618 0 6.44995E-5
17-54554933-GATCAA-G p.Ile625fs frameshift ANKFN1 1 83254 1.20114E-5 41627 0 NA
17-54554950-T-C p.Leu628Leu synonymous ANKFN1 1 83236 1.2014E-5 41618 0 NA
17-54554993-C-T p.Arg643Cys missense ANKFN1 4 83134 4.81151E-5 41567 0 3.21399E-5
17-54554994-G-A p.Arg643His missense ANKFN1 5 83124 6.01511E-5 41562 0 3.2111E-5
17-54555002-A-G p.Asn646Asp missense ANKFN1 1 83082 1.20363E-5 41541 0 8.27732E-6
17-54558026-C-G c.1950-3C>G splice_region ANKFN1 1 82226 1.21616E-5 41113 0 NA
17-54558052-A-C p.Lys658Thr missense ANKFN1 2 82482 2.42477E-5 41241 0 NA
17-54558054-CTT-C p.Ser660fs frameshift ANKFN1 1 82496 1.21218E-5 41248 0 NA
17-54558058-C-CTGAA p.Gly661fs frameshift ANKFN1 1 82546 1.21145E-5 41273 0 NA
17-54558060-G-T p.Gly661Cys missense ANKFN1 2 82548 2.42283E-5 41274 0 1.64905E-5
17-54558079-G-C p.Ser667Thr missense ANKFN1 2 82736 2.41733E-5 41368 0 NA
17-54558091-C-A p.Thr671Asn missense ANKFN1 1 82832 1.20726E-5 41416 0 NA
17-54558113-G-T p.Leu678Phe missense ANKFN1 1 82914 1.20607E-5 41457 0 NA
17-54558122-C-T p.Tyr681Tyr synonymous ANKFN1 3 82938 3.61716E-5 41469 0 3.29603E-5
17-54558123-G-A p.Glu682Lys missense ANKFN1 10 82934 1.20578E-4 41467 0 5.37711E-4
17-54558135-G-A p.Ala686Thr missense ANKFN1 1 82910 1.20613E-5 41455 0 NA
17-54558143-A-G p.Lys688Lys synonymous ANKFN1 1 82918 1.20601E-5 41459 0 1.64796E-5
17-54558147-C-T p.Leu690Phe missense ANKFN1 2 82918 2.41202E-5 41459 0 3.98289E-6
17-54558158-G-A p.Gln693Gln synonymous ANKFN1 1 82852 1.20697E-5 41426 0 9.56938E-5
17-54558165-A-G p.Ile696Val missense ANKFN1 1 82822 1.20741E-5 41411 0 1.64891E-5
17-54558168-C-A p.Pro697Thr missense ANKFN1 1 82776 1.20808E-5 41388 0 2.39282E-5
17-54558171-C-G p.Leu698Val missense ANKFN1 1 82758 1.20834E-5 41379 0 3.18857E-5
17-54559720-A-G p.Arg702Gly missense ANKFN1 1 82966 1.20531E-5 41483 0 NA
17-54559730-G-A p.Arg705His missense ANKFN1 4 82980 4.82044E-5 41490 0 2.48036E-5
17-54559743-G-A p.Gln709Gln synonymous ANKFN1 1 83142 1.20276E-5 41571 0 NA
17-54559744-G-A p.Glu710Lys missense ANKFN1 1 83142 1.20276E-5 41571 0 4.01803E-6
17-54559750-T-C p.Leu712Leu synonymous ANKFN1 23 83152 2.76602E-4 41576 0 0.0010101
17-54559753-G-A p.Glu713Lys missense ANKFN1 2 83154 2.40518E-5 41577 0 4.00725E-6
17-54559756-A-G p.Met714Val missense ANKFN1 1 83146 1.2027E-5 41573 0 7.61084E-5
17-54559758-G-C p.Met714Ile missense ANKFN1 2 83144 2.40547E-5 41572 0 3.18756E-5
17-54559764-C-T p.His716His synonymous ANKFN1 1 83148 1.20267E-5 41574 0 3.99473E-6
17-54559765-A-G p.Asn717Asp missense ANKFN1 1 83144 1.20273E-5 41572 0 NA
17-54559766-A-G p.Asn717Ser missense ANKFN1 1 83148 1.20267E-5 41574 0 3.18654E-5
17-54559773-C-T p.Ser719Ser synonymous ANKFN1 1 83098 1.2034E-5 41549 0 NA
17-54559774-T-C p.Phe720Leu missense ANKFN1 1 83102 1.20334E-5 41551 0 NA
17-54559788-C-T p.Leu724Leu synonymous ANKFN1 1 83048 1.20412E-5 41524 0 NA
17-54559800-C-T p.Asp728Asp synonymous ANKFN1 54 83004 6.50571E-4 41502 0 0.00218413
17-54559801-G-A p.Asp729Asn missense ANKFN1 58 82990 6.98879E-4 41495 0 0.00149806
17-54559803-C-T p.Asp729Asp synonymous ANKFN1 3 82992 3.61481E-5 41496 0 3.98921E-6
17-54559804-G-A p.Val730Ile missense ANKFN1 2 82986 2.41005E-5 41493 0 6.25E-4
17-54559805-T-C p.Val730Ala missense ANKFN1 1 82980 1.20511E-5 41490 0 NA
17-54559811-C-G p.Thr732Arg missense ANKFN1 1 83010 1.20467E-5 41505 0 3.98928E-6
17-54559832-C-T p.Pro739Leu missense ANKFN1 3 83000 3.61446E-5 41500 0 1.19723E-5
17-54559844-A-G p.His743Arg missense ANKFN1 1 83032 1.20435E-5 41516 0 3.18512E-5
17-54559890-A-T c.2269+5A>T splice_region ANKFN1 1 83128 1.20296E-5 41564 0 NA
17-54569570-G-T p.Glu764Asp missense ANKFN1 2 51966 3.84867E-5 25983 0 NA
17-54569591-C-T p.Cys771Cys synonymous ANKFN1 1 52044 1.92145E-5 26022 0 NA
17-54569592-C-T p.Arg772Cys missense ANKFN1 41 52040 7.87855E-4 26020 0 0.00200739
17-54569613-C-A p.Leu779Met missense ANKFN1 3 52068 5.7617E-5 26034 0 1.48916E-5
17-54569617-A-T p.Asp780Val missense ANKFN1 1 52046 1.92138E-5 26023 0 3.18471E-5
17-54569629-C-A p.Thr784Asn missense ANKFN1 206 52034 0.00395895 26017 0 0.00431456
17-54569664-G-A p.Glu796Lys missense ANKFN1 2 51976 3.84793E-5 25988 0 7.44979E-6
17-54569669-T-A p.Val797Val synonymous ANKFN1 1 51960 1.92456E-5 25980 0 1.49007E-5
17-54569689-A-G p.His804Arg missense ANKFN1 1 51956 1.92471E-5 25978 0 NA
17-54569718-ATTGT-A c.2436+5_2436+8delTTGT splice_region ANKFN1 12 51806 2.31633E-4 25903 0 1.91083E-4
17-54576251-T-G p.Asp815Glu missense ANKFN1 1 75886 1.31777E-5 37943 0 NA
17-54576258-T-C p.Trp818Arg missense ANKFN1 2 75972 2.63255E-5 37986 0 NA
17-54576261-C-T p.Arg819Cys missense ANKFN1 2 75986 2.63206E-5 37993 0 1.49214E-5
17-54576262-G-A p.Arg819His missense ANKFN1 25 76016 3.28878E-4 38008 0 3.1841E-5
17-54576267-A-G p.Met821Val missense ANKFN1 7 76068 9.20229E-5 38034 0 1.27364E-4
17-54576268-T-G p.Met821Arg missense ANKFN1 1 76066 1.31465E-5 38033 0 NA
17-54576285-G-A p.Ala827Thr missense ANKFN1 4 76140 5.25348E-5 38070 0 8.94068E-5
17-54576296-T-C p.Tyr830Tyr synonymous ANKFN1 2 76172 2.62564E-5 38086 0 6.37024E-5
17-54576320-T-G p.Ser838Ser synonymous ANKFN1 1 76264 1.31123E-5 38132 0 NA
17-54576330-A-G p.Ile842Val missense ANKFN1 16 76284 2.09743E-4 38142 0 6.36862E-5
17-54576344-A-G p.Ile846Met missense ANKFN1 1 76326 1.31017E-5 38163 0 NA
17-54576351-T-C p.Ser849Pro missense ANKFN1 1 76308 1.31048E-5 38154 0 2.23218E-5
17-54576371-G-A p.Lys855Lys synonymous ANKFN1 3 76300 3.93185E-5 38150 0 NA
17-54576386-A-G p.Thr860Thr synonymous ANKFN1 1 76272 1.3111E-5 38136 0 NA
17-54576389-A-T p.Ser861Ser synonymous ANKFN1 1 76258 1.31134E-5 38129 0 2.23254E-5
17-54576393-T-A p.Ser863Thr missense ANKFN1 1 76248 1.31151E-5 38124 0 NA
17-54576400-T-C p.Ile865Thr missense ANKFN1 1 76208 1.3122E-5 38104 0 1.48929E-5
17-54576402-G-C p.Asp866His missense ANKFN1 1969 76160 0.0258535 38080 39 0.0355048
17-54576412-C-A p.Pro869Gln missense ANKFN1 7 76118 9.19625E-5 38059 1 2.2354E-5
17-54576413-A-G p.Pro869Pro synonymous ANKFN1 1 76094 1.31416E-5 38047 0 1.4904E-5
17-54576420-C-T p.Pro872Ser missense ANKFN1 72 76030 9.46995E-4 38015 0 0.00258192
17-54576424-C-T p.Pro873Leu missense ANKFN1 1 76012 1.31558E-5 38006 0 NA
17-54576435-A-C p.Met877Leu missense ANKFN1 1 75848 1.31843E-5 37924 0 NA
17-54576441-A-G p.Arg879Gly missense ANKFN1 2 75762 2.63985E-5 37881 0 7.47898E-6
17-54576451-C-T p.Thr882Ile missense ANKFN1 1 75604 1.32268E-5 37802 0 NA
17-54576459-G-A p.Asp885Asn missense+splice_region ANKFN1 3 75432 3.97709E-5 37716 0 NA
17-54587840-A-G p.Gln887Arg missense ANKFN1 1 76092 1.3142E-5 38046 0 8.94774E-5
17-54587844-C-T p.Pro888Pro synonymous ANKFN1 2 76160 2.62605E-5 38080 0 6.37024E-5
17-54587860-G-A p.Ala894Thr missense ANKFN1 1 76388 1.30911E-5 38194 0 NA
17-54587881-C-T p.Pro901Ser missense ANKFN1 1 76528 1.30671E-5 38264 0 NA
17-54587889-C-A p.Asn903Lys missense ANKFN1 1 76540 1.30651E-5 38270 0 NA
17-54587893-G-T p.Asp905Tyr missense ANKFN1 1 76534 1.30661E-5 38267 0 NA
17-54587898-C-A p.Tyr906* stop_gained ANKFN1 5 76546 6.53202E-5 38273 0 8.17127E-5
17-54587898-C-T p.Tyr906Tyr synonymous ANKFN1 1 76546 1.3064E-5 38273 0 7.4292E-6
17-54587899-G-A p.Asp907Asn missense ANKFN1 1 76544 1.30644E-5 38272 0 2.45058E-4
17-54587908-G-A p.Asp910Asn missense ANKFN1 8 76552 1.04504E-4 38276 0 1.63435E-4
17-54587915-T-A p.Leu912Gln missense ANKFN1 1 76576 1.30589E-5 38288 0 NA
17-54587933-A-T p.Asp918Val missense ANKFN1 1 76586 1.30572E-5 38293 0 NA
17-54587937-G-C p.Leu919Leu synonymous ANKFN1 2 76590 2.61131E-5 38295 0 7.42854E-6
17-54587945-T-C p.Leu922Pro missense ANKFN1 12 76588 1.56683E-4 38294 0 7.79985E-4
17-54587947-T-C p.Ser923Pro missense ANKFN1 1 76576 1.30589E-5 38288 0 NA
17-54587955-C-T p.His925His synonymous ANKFN1 1 76578 1.30586E-5 38289 0 7.42909E-6
17-54587955-C-A p.His925Gln missense ANKFN1 1 76578 1.30586E-5 38289 0 3.71454E-5
17-54587959-A-T p.Ile927Phe missense ANKFN1 2 76586 2.61144E-5 38293 0 3.18756E-5
17-54587960-T-C p.Ile927Thr missense ANKFN1 1 76584 1.30576E-5 38292 0 3.18512E-5
17-54587966-A-G p.Gln929Arg missense ANKFN1 1 76568 1.30603E-5 38284 0 7.42931E-6
17-54587976-T-C p.Leu932Leu synonymous ANKFN1 26 76562 3.39594E-4 38281 0 0.00121112
17-54587983-C-T p.Leu935Leu synonymous ANKFN1 2 76568 2.61206E-5 38284 0 NA
17-54587994-C-T p.Ser938Ser synonymous ANKFN1 1 76556 1.30623E-5 38278 0 NA
17-54587995-G-A p.Ala939Thr missense ANKFN1 2 76552 2.6126E-5 38276 0 7.43152E-6
17-54587996-C-T p.Ala939Val missense ANKFN1 3 76556 3.9187E-5 38278 0 7.43141E-6
17-54588000-C-G p.Pro940Pro synonymous ANKFN1 2 76552 2.6126E-5 38276 0 7.4313E-6
17-54588001-G-A p.Asp941Asn missense ANKFN1 26 76552 3.39638E-4 38276 0 0.0025
17-54588004-G-A p.Val942Ile missense ANKFN1 16 76550 2.09014E-4 38275 0 3.82239E-4
17-54588012-A-C p.Gln944His missense ANKFN1 1 76556 1.30623E-5 38278 0 NA
17-54588018-C-T p.His946His synonymous ANKFN1 1 76544 1.30644E-5 38272 0 6.37024E-5
17-54588019-G-A p.Asp947Asn missense ANKFN1 4 76546 5.22562E-5 38273 0 1.62522E-4
17-54588021-C-G p.Asp947Glu missense ANKFN1 3 76540 3.91952E-5 38270 0 NA
17-54588022-G-A p.Val948Met missense ANKFN1 18 76544 2.35159E-4 38272 0 3.25045E-4
17-54588041-C-A p.Pro954Gln missense ANKFN1 4 76544 5.22575E-5 38272 0 3.18573E-5
17-54588041-C-T p.Pro954Leu missense ANKFN1 2 76544 2.61288E-5 38272 0 1.48624E-5
17-54588042-G-A p.Pro954Pro synonymous ANKFN1 1 76546 1.3064E-5 38273 0 8.12612E-5
17-54588049-G-C p.Asp957His missense ANKFN1 2 76542 2.61294E-5 38271 0 2.97243E-5
17-54588058-G-C p.Gly960Arg missense ANKFN1 3 76552 3.9189E-5 38276 0 1.48615E-5
17-54588063-G-C p.Glu961Asp missense ANKFN1 1 76556 1.30623E-5 38278 0 NA
17-54588067-C-T p.Pro963Ser missense ANKFN1 25 76554 3.26567E-4 38277 0 0.00121042
17-54588084-A-G p.Ser968Ser synonymous ANKFN1 1 76548 1.30637E-5 38274 0 7.4313E-6
17-54588092-A-T p.Glu971Val missense ANKFN1 1 76544 1.30644E-5 38272 0 NA
17-54588100-C-T p.His974Tyr missense ANKFN1 4 76538 5.22616E-5 38269 0 8.12744E-5
17-54588102-T-C p.His974His synonymous ANKFN1 2 76534 2.61322E-5 38267 0 NA
17-54588108-G-A p.Leu976Leu synonymous ANKFN1 7 76538 9.14578E-5 38269 0 1.91229E-4
17-54588110-C-T p.Thr977Ile missense ANKFN1 1 76546 1.3064E-5 38273 0 7.43196E-6
17-54588139-G-T p.Ala987Ser missense ANKFN1 1 76538 1.30654E-5 38269 0 NA
17-54588145-A-G p.Thr989Ala missense ANKFN1 1 76536 1.30657E-5 38268 0 NA
17-54588146-C-G p.Thr989Ser missense ANKFN1 1 76542 1.30647E-5 38271 0 7.43141E-6
17-54588147-T-C p.Thr989Thr synonymous ANKFN1 1 76542 1.30647E-5 38271 0 3.71885E-5
17-54588153-C-A p.Ser991Ser synonymous ANKFN1 1 76542 1.30647E-5 38271 0 2.22965E-5
17-54588160-C-T p.Arg994Trp missense ANKFN1 1 76548 1.30637E-5 38274 0 NA
17-54588161-G-A p.Arg994Gln missense ANKFN1 3 76542 3.91942E-5 38271 0 3.18634E-5
17-54588167-CG-C p.Leu997fs frameshift ANKFN1 2 76540 2.61301E-5 38270 0 NA
17-54588167-C-CG p.Leu997fs frameshift ANKFN1 1 76540 1.30651E-5 38270 0 NA
17-54588167-C-T p.Pro996Leu missense ANKFN1 2 76540 2.61301E-5 38270 0 1.2747E-4
17-54588168-G-A p.Pro996Pro synonymous ANKFN1 1 76534 1.30661E-5 38267 0 NA
17-54588181-G-C p.Gly1001Arg missense ANKFN1 1 76540 1.30651E-5 38270 0 7.43384E-6
17-54588187-C-A p.Arg1003Arg synonymous ANKFN1 2 76538 2.61308E-5 38269 0 NA
17-54588188-G-A p.Arg1003Gln missense ANKFN1 3 76534 3.91983E-5 38267 0 8.1314E-5
17-54588196-G-A p.Gly1006Ser missense ANKFN1 7 76540 9.14554E-5 38270 0 9.66413E-5
17-54588201-G-C p.Lys1007Asn missense ANKFN1 2 76522 2.61363E-5 38261 0 NA
17-54588202-C-T p.His1008Tyr missense ANKFN1 2 76524 2.61356E-5 38262 0 NA
17-54588205-C-T p.Pro1009Ser missense ANKFN1 1 76518 1.30688E-5 38259 0 6.25E-4
17-54588207-C-T p.Pro1009Pro synonymous ANKFN1 1 76522 1.30681E-5 38261 0 2.43942E-4
17-54588208-C-G p.His1010Asp missense ANKFN1 2 76508 2.61411E-5 38254 0 NA
17-54588208-C-T p.His1010Tyr missense ANKFN1 1 76508 1.30705E-5 38254 0 2.23032E-5
17-54588211-T-C p.Tyr1011His missense ANKFN1 7381 76428 0.0965746 38214 366 0.121741
17-54588212-ATGGCGGCTTC-A p.Tyr1011fs frameshift ANKFN1 1 76476 1.3076E-5 38238 0 7.43517E-6
17-54588215-G-A p.Gly1012Asp missense ANKFN1 2 76466 2.61554E-5 38233 0 1.48706E-5
17-54588216-C-T p.Gly1012Gly synonymous ANKFN1 2 76462 2.61568E-5 38231 0 8.13405E-5
17-54588217-G-T p.Gly1013Cys missense ANKFN1 2 76456 2.61588E-5 38228 0 1.27389E-4
17-54588221-TCAGCCGC-T p.Ser1015fs frameshift ANKFN1 11 76400 1.43979E-4 38200 0 3.18695E-5
17-54588226-C-T p.Arg1016Cys missense ANKFN1 6 76458 7.84745E-5 38229 0 1.18952E-4
17-54588227-G-A p.Arg1016His missense ANKFN1 1 76454 1.30798E-5 38227 0 3.18532E-5
17-54588236-G-A p.Arg1019His missense ANKFN1 1 76482 1.3075E-5 38241 0 3.18552E-5
17-54588241-T-G p.Leu1021Val missense ANKFN1 1 76494 1.30729E-5 38247 0 7.43163E-6
17-54588241-T-C p.Leu1021Leu synonymous ANKFN1 8 76494 1.04583E-4 38247 0 9.55657E-5
17-54588243-G-T p.Leu1021Phe missense ANKFN1 2 76488 2.61479E-5 38244 0 7.4313E-6
17-54588249-C-G p.Ile1023Met missense ANKFN1 5 76510 6.53509E-5 38255 0 3.18512E-5
17-54588255-C-G p.Ser1025Arg missense ANKFN1 1 76500 1.30719E-5 38250 0 7.43152E-6
17-54588256-G-T p.Glu1026* stop_gained ANKFN1 2 76496 2.61452E-5 38248 0 2.97256E-5
17-54588256-G-A p.Glu1026Lys missense ANKFN1 1 76496 1.30726E-5 38248 0 1.48628E-5
17-54588270-A-C p.Leu1030Leu synonymous ANKFN1 5 76506 6.53544E-5 38253 0 8.9157E-5
17-54588272-C-T p.Ser1031Leu missense ANKFN1 4 76500 5.22876E-5 38250 0 7.31945E-4
17-54588273-G-A p.Ser1031Ser synonymous ANKFN1 1 76506 1.30709E-5 38253 0 NA
17-54588283-G-A p.Gly1035Ser missense ANKFN1 3 76494 3.92188E-5 38247 0 7.42975E-6
17-54588283-G-T p.Gly1035Cys missense ANKFN1 1 76494 1.30729E-5 38247 0 7.42975E-6
17-54588285-C-T p.Gly1035Gly synonymous ANKFN1 11 76470 1.43847E-4 38235 0 0.00123341
17-54588286-A-G p.Ile1036Val missense ANKFN1 1 76462 1.30784E-5 38231 0 7.43041E-6
17-54588293-C-G p.Thr1038Arg missense ANKFN1 10 76458 1.30791E-4 38229 0 2.97221E-5
17-54588299-A-G p.His1040Arg missense ANKFN1 1 76440 1.30822E-5 38220 0 NA
17-54588305-C-G p.Ser1042Cys missense ANKFN1 1 76438 1.30825E-5 38219 0 NA
17-54588312-C-T p.Ala1044Ala synonymous ANKFN1 1 76442 1.30818E-5 38221 0 7.43517E-6
17-54588322-G-GCCCAGGAGC p.Gln1049_Pro1051dup conservative_inframe_insertion ANKFN1 6 76404 7.85299E-5 38202 0 3.18695E-5
17-54588325-CAGGAGCCCA-C p.Pro1051_Glu1053del conservative_inframe_deletion ANKFN1 3 76400 3.9267E-5 38200 0 1.48781E-5
17-54588339-G-A p.Glu1053Glu synonymous ANKFN1 1 76396 1.30897E-5 38198 0 NA
17-54588341-C-T p.Ala1054Val missense ANKFN1 1 76392 1.30904E-5 38196 0 1.71246E-4
17-54588342-C-T p.Ala1054Ala synonymous ANKFN1 6 76396 7.85381E-5 38198 0 NA
17-54588347-G-A p.Arg1056Gln missense ANKFN1 1 76386 1.30914E-5 38193 0 NA
17-54588351-C-A p.Ala1057Ala synonymous ANKFN1 156 76376 0.00204253 38188 1 0.00726392
17-54588351-C-T p.Ala1057Ala synonymous ANKFN1 2 76378 2.61856E-5 38189 0 6.37186E-5
17-54588353-G-A p.Gly1058Asp missense ANKFN1 1 76356 1.30965E-5 38178 0 NA
17-54588356-C-T p.Pro1059Leu missense ANKFN1 1 76392 1.30904E-5 38196 0 NA
17-54588365-A-C p.Asp1062Ala missense ANKFN1 1 76374 1.30935E-5 38187 0 NA
17-54588370-C-G p.Pro1064Ala missense ANKFN1 1 76368 1.30945E-5 38184 0 3.18613E-5
17-54588370-C-A p.Pro1064Thr missense ANKFN1 1 76368 1.30945E-5 38184 0 3.18613E-5
17-54588377-G-C p.Gly1066Ala missense ANKFN1 1 76352 1.30972E-5 38176 0 NA
17-54588391-C-A p.His1071Asn missense ANKFN1 2 76360 2.61917E-5 38180 0 NA
17-54588393-C-T p.His1071His synonymous ANKFN1 182 76330 0.00238438 38165 3 0.00452345
17-54588396-T-G p.Ala1072Ala synonymous ANKFN1 6 76350 7.85855E-5 38175 0 6.37146E-5
17-54588400-A-G p.Ser1074Gly missense ANKFN1 5 76360 6.54793E-5 38180 0 6.68946E-5
17-54588401-G-A p.Ser1074Asn missense ANKFN1 385 76346 0.00504283 38173 7 0.00971399
17-54588411-G-A p.Glu1077Glu synonymous ANKFN1 1 76348 1.30979E-5 38174 0 NA
17-54588415-C-G p.Arg1079Gly missense ANKFN1 2 76338 2.61993E-5 38169 0 NA
17-54588423-C-T p.Ser1081Ser synonymous ANKFN1 2 76378 2.61856E-5 38189 0 NA
17-54588426-TCTCCAG-T p.Leu1083_Gln1084del conservative_inframe_deletion ANKFN1 1 76342 1.30989E-5 38171 0 7.43174E-6
17-54588433-G-A p.Asp1085Asn missense ANKFN1 3 76348 3.92938E-5 38174 0 3.18573E-5
17-54588436-G-A p.Ala1086Thr missense ANKFN1 2 76318 2.62061E-5 38159 0 7.43229E-6
17-54588438-G-A p.Ala1086Ala synonymous ANKFN1 1 76328 1.31014E-5 38164 0 7.43318E-6
17-54588440-G-A p.Arg1087Lys missense ANKFN1 1 76346 1.30983E-5 38173 0 NA
17-54588443-C-A p.Pro1088His missense ANKFN1 2 76334 2.62006E-5 38167 0 NA
17-54588454-C-T p.Arg1092Cys missense ANKFN1 2 76336 2.62E-5 38168 0 5.94592E-5
17-54588461-A-T p.Tyr1094Phe missense ANKFN1 1 76338 1.30996E-5 38169 0 NA
17-54588464-T-C p.Val1095Ala missense ANKFN1 1 76356 1.30965E-5 38178 0 NA
17-54588465-G-A p.Val1095Val synonymous ANKFN1 1 76360 1.30959E-5 38180 0 NA
17-54588466-G-T p.Glu1096* stop_gained ANKFN1 1 76356 1.30965E-5 38178 0 NA
17-54588468-G-C p.Glu1096Asp missense ANKFN1 3 76368 3.92835E-5 38184 0 NA
17-54588471-C-G p.Pro1097Pro synonymous ANKFN1 5 76382 6.54605E-5 38191 0 3.18573E-5
17-54588475-G-A p.Ala1099Thr missense ANKFN1 1 76360 1.30959E-5 38180 0 7.43295E-6
17-54588481-G-A p.Ala1101Thr missense ANKFN1 1 76326 1.31017E-5 38163 0 NA
17-54588483-C-T p.Ala1101Ala synonymous ANKFN1 2 76322 2.62048E-5 38161 0 NA
17-54588484-G-A p.Val1102Met missense ANKFN1 1 76330 1.3101E-5 38165 0 1.59307E-4
17-54588486-G-T p.Val1102Val synonymous ANKFN1 1 76320 1.31027E-5 38160 0 NA
17-54588511-G-T p.Ala1111Ser missense ANKFN1 4 76302 5.24233E-5 38151 0 0.00125
17-54588523-C-T p.Pro1115Ser missense ANKFN1 3 76260 3.93391E-5 38130 0 7.43572E-6
17-54588525-G-A p.Pro1115Pro synonymous ANKFN1 1 76240 1.31165E-5 38120 0 1.48756E-5
17-54588527-C-T p.Pro1116Leu missense ANKFN1 1 76254 1.31141E-5 38127 0 1.48761E-5
17-54588528-C-T p.Pro1116Pro synonymous ANKFN1 1 76260 1.3113E-5 38130 0 8.18185E-5
17-54588538-C-T p.Arg1120Cys missense ANKFN1 3 76156 3.93928E-5 38078 0 8.24266E-5
17-54588539-G-A p.Arg1120His missense ANKFN1 1 76134 1.31347E-5 38067 0 NA
17-54588551-C-G p.Pro1124Arg missense ANKFN1 1 76088 1.31427E-5 38044 0 7.4539E-6
17-54588558-C-T p.Pro1126Pro synonymous ANKFN1 1 75998 1.31582E-5 37999 0 NA
17-54588561-T-C p.Thr1127Thr synonymous ANKFN1 1 75936 1.3169E-5 37968 0 7.47552E-6
17-54588562-G-A p.Gly1128Ser missense ANKFN1 1 75924 1.31711E-5 37962 0 NA
17-54588567-C-T p.Pro1129Pro synonymous ANKFN1 12 75818 1.58274E-4 37909 0 4.45973E-4
17-54588571-G-A p.Val1131Met missense ANKFN1 2 75694 2.64222E-5 37847 0 NA
17-54588594-C-T p.Ala1138Ala synonymous ANKFN1 25 74686 3.34735E-4 37343 0 7.81076E-4
17-54588598-C-G p.Pro1140Ala missense ANKFN1 1 74456 1.34308E-5 37228 0 1.17261E-4
17-54588605-C-G p.Ser1142* stop_gained ANKFN1 1 73734 1.35623E-5 36867 0 1.15771E-4
17-54588611-TACTC-T p.Leu1145fs frameshift ANKFN1 2 73160 2.73373E-5 36580 0 NA
17-54588612-A-G p.Ile1144Met missense ANKFN1 3 73050 4.10678E-5 36525 0 NA
17-54588622-A-G p.Met1148Val missense ANKFN1 2 71910 2.78125E-5 35955 0 8.03846E-6
17-54588623-T-G p.Met1148Arg missense ANKFN1 1 71826 1.39225E-5 35913 0 NA