Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-78285308-C-T c.-11-3C>T splice_region ADCK1 4 83286 4.80273E-5 41643 0 2.03727E-5
14-78285328-A-T p.Arg3* stop_gained ADCK1 1 83334 1.19999E-5 41667 0 8.23886E-6
14-78285333-G-T p.Lys4Asn missense ADCK1 1 83334 1.19999E-5 41667 0 NA
14-78285334-G-T p.Ala5Ser missense ADCK1 6 83332 7.20012E-5 41666 0 8.23845E-6
14-78285335-C-G p.Ala5Gly missense ADCK1 2 83332 2.40004E-5 41666 0 3.18471E-5
14-78285336-T-C p.Ala5Ala synonymous ADCK1 1 83334 1.19999E-5 41667 0 NA
14-78285351-G-A p.Ser10Ser synonymous ADCK1 1 83332 1.20002E-5 41666 0 4.37498E-5
14-78285361-A-G p.Met14Val missense ADCK1 1 83328 1.20008E-5 41664 0 8.23683E-6
14-78285361-A-C p.Met14Leu missense ADCK1 1 83328 1.20008E-5 41664 0 NA
14-78285373-G-A p.Ala18Thr missense ADCK1 1 83326 1.20011E-5 41663 0 3.97671E-6
14-78285377-C-T p.Ser19Phe missense ADCK1 2 83322 2.40033E-5 41661 0 5.56735E-5
14-78285386-A-G p.Tyr22Cys missense ADCK1 3 83312 3.60092E-5 41656 0 1.64728E-5
14-78285394-A-G p.Ser25Gly missense ADCK1 3 83318 3.60066E-5 41659 0 2.47093E-5
14-78285396-T-A p.Ser25Arg missense ADCK1 2 83312 2.40061E-5 41656 0 NA
14-78285403-T-C p.Tyr28His missense ADCK1 10 83306 1.20039E-4 41653 0 5.56753E-5
14-78285409-G-A p.Asp30Asn missense ADCK1 1 83304 1.20042E-5 41652 0 6.25E-4
14-78285410-A-T p.Asp30Val missense ADCK1 3 83302 3.60135E-5 41651 0 3.97693E-6
14-78285411-C-A p.Asp30Glu missense ADCK1 1 83302 1.20045E-5 41651 0 5.03525E-4
14-78285411-C-T p.Asp30Asp synonymous ADCK1 1 83302 1.20045E-5 41651 0 NA
14-78285426-C-T p.Gly35Gly synonymous ADCK1 5 83276 6.00413E-5 41638 0 5.03525E-4
14-78285429-T-C p.Ala36Ala synonymous ADCK1 1 83274 1.20085E-5 41637 0 NA
14-78285435-G-C p.Arg38Ser missense ADCK1 1 83268 1.20094E-5 41634 0 NA
14-78285446-C-T p.Ala42Val missense ADCK1 1 83270 1.20091E-5 41635 0 3.63293E-5
14-78285455-C-T p.Thr45Met missense+splice_region ADCK1 2 83244 2.40258E-5 41622 0 4.76644E-5
14-78285456-G-GACGGCTGTCATCAGTTACGACTACCTCACTTCCCT c.135_135+1insACGGCTGTCATCAGTTACGACTACCTCACTTCCCT splice_donor ADCK1 2 83242 2.40263E-5 41621 1 NA
14-78285456-G-GACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGA c.135_135+1insACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGA splice_donor ADCK1 2 83244 2.40258E-5 41622 1 NA
14-78285461-GT-G c.135+6delT splice_region ADCK1 52735 82848 0.636527 41424 17005 0.638667
14-78288779-C-T p.Thr46Met missense+splice_region ADCK1 7 82666 8.46781E-5 41333 0 0.0020141
14-78288779-C-A p.Thr46Lys missense+splice_region ADCK1 1 82666 1.20969E-5 41333 0 3.97947E-6
14-78288787-A-G p.Ile49Val missense ADCK1 1 82780 1.20802E-5 41390 0 NA
14-78288795-C-T p.Tyr51Tyr synonymous ADCK1 2 82830 2.41458E-5 41415 0 2.47713E-5
14-78288796-G-A p.Asp52Asn missense ADCK1 1 82836 1.2072E-5 41418 0 3.30273E-5
14-78288801-C-A p.Tyr53* stop_gained ADCK1 1 82910 1.20613E-5 41455 0 NA
14-78288812-T-C p.Leu57Pro missense ADCK1 55 82950 6.6305E-4 41475 0 6.43586E-4
14-78288819-T-C p.Ser59Ser synonymous ADCK1 1 82966 1.20531E-5 41483 0 NA
14-78288820-G-A p.Val60Ile missense ADCK1 1 82974 1.2052E-5 41487 0 1.19325E-5
14-78288824-C-CT p.Tyr62fs frameshift ADCK1 2 82990 2.40993E-5 41495 0 NA
14-78288828-T-C p.Tyr62Tyr synonymous ADCK1 1 82984 1.20505E-5 41492 0 NA
14-78288830-G-C p.Gly63Ala missense ADCK1 80 82994 9.63925E-4 41497 0 0.00375
14-78288833-C-T p.Ser64Leu missense ADCK1 1 82996 1.20488E-5 41498 0 NA
14-78288834-A-G p.Ser64Ser synonymous ADCK1 1 82992 1.20494E-5 41496 0 3.18492E-5
14-78288847-C-T p.Gln69* stop_gained ADCK1 1 82892 1.20639E-5 41446 0 3.18532E-5
14-78288860-A-T p.Lys73Met missense+splice_region ADCK1 4 82772 4.83255E-5 41386 0 5.03525E-4
14-78288861-G-GAGTCTTGCTGTATCTCCCAGGCTGGAGTGCATTGGC c.219_219+1insAGTCTTGCTGTATCTCCCAGGCTGGAGTGCATTGGC splice_donor ADCK1 1 82760 1.20831E-5 41380 0 NA
14-78288862-G-A c.219+1G>A splice_donor ADCK1 2 82742 2.41715E-5 41371 0 NA
14-78288863-T-TGCACCTTCGCTCTGCCAGGCGTCTCTGTGAGCTCTGCTGTGCC c.219+2_219+3insGCACCTTCGCTCTGCCAGGCGTCTCTGTGAGCTCTGCTGTGCC splice_region ADCK1 2 82710 2.41809E-5 41355 1 NA
14-78288868-A-G c.219+7A>G splice_region ADCK1 1 82602 1.21062E-5 41301 0 1.98894E-5
14-78294232-C-T p.Gly85Gly synonymous ADCK1 1 7064 1.41563E-4 3532 0 5.71429E-4
14-78294241-G-A p.Ser88Ser synonymous ADCK1 3 7020 4.2735E-4 3510 0 6.93481E-4
14-78294275-G-A p.Asp100Asn missense ADCK1 1 6678 1.49745E-4 3339 0 1.08038E-4
14-78294276-A-G p.Asp100Gly missense ADCK1 1 6570 1.52207E-4 3285 0 8.8164E-5
14-78294283-T-C p.Pro102Pro synonymous ADCK1 1 6514 1.53516E-4 3257 0 4.69925E-4
14-78294316-T-C c.337+2T>C splice_donor ADCK1 1 5972 1.67448E-4 2986 0 NA
14-78294317-GAGT-G c.337+4_337+6delAGT splice_region ADCK1 1 5968 1.6756E-4 2984 0 NA
14-78294320-T-C c.337+6T>C splice_region ADCK1 33 5624 0.00586771 2812 0 0.0144283
14-78294321-G-C c.337+7G>C splice_region ADCK1 1 5604 1.78444E-4 2802 0 NA
14-78325425-C-T p.Leu76Phe missense ADCK1 1 80666 1.23968E-5 40333 0 NA
14-78325428-C-T p.Arg77Cys missense ADCK1 3 80764 3.71453E-5 40382 0 5.16529E-4
14-78325440-C-T p.Arg81Cys missense ADCK1 3 81378 3.6865E-5 40689 0 5.1282E-4
14-78325441-G-A p.Arg81His missense ADCK1 13 81468 1.59572E-4 40734 0 5.13875E-4
14-78325442-T-A p.Ser121Thr missense ADCK1 2 81548 2.45254E-5 40774 0 8.57074E-6
14-78325443-C-T p.Leu82Phe missense ADCK1 1 81590 1.22564E-5 40795 0 8.56414E-6
14-78325445-C-T p.Leu82Leu synonymous ADCK1 1 81662 1.22456E-5 40831 0 NA
14-78325447-G-A p.Cys83Tyr missense ADCK1 1 81728 1.22357E-5 40864 0 8.03032E-6
14-78325457-C-T p.Cys86Cys synonymous ADCK1 1 81930 1.22055E-5 40965 0 6.37186E-5
14-78325459-G-T p.Cys87Phe missense ADCK1 2 81950 2.44051E-5 40975 0 NA
14-78325467-C-T p.Arg90Trp missense ADCK1 5 82028 6.09548E-5 41014 0 6.69557E-5
14-78325473-A-T p.Thr92Ser missense ADCK1 1 82082 1.21829E-5 41041 0 NA
14-78325475-C-A p.Thr92Thr synonymous ADCK1 1 82136 1.21749E-5 41068 0 3.993E-6
14-78325491-C-T p.Gln98* stop_gained ADCK1 1 82036 1.21898E-5 41018 0 NA
14-78325497-C-T p.Leu100Leu synonymous ADCK1 2 82050 2.43754E-5 41025 0 8.30358E-6
14-78325498-T-TG p.Ala102fs frameshift ADCK1 1 82048 1.2188E-5 41024 0 NA
14-78325507-T-C p.Leu103Pro missense ADCK1 1 82036 1.21898E-5 41018 0 NA
14-78325510-A-T p.Asp104Val missense ADCK1 1 82050 1.21877E-5 41025 0 3.18756E-5
14-78325511-C-T p.Asp104Asp synonymous ADCK1 1 82052 1.21874E-5 41026 0 1.19559E-5
14-78325522-C-T p.Pro108Leu missense ADCK1 1 82018 1.21924E-5 41009 0 NA
14-78325528-A-G p.Glu110Gly missense ADCK1 2 81962 2.44016E-5 40981 0 3.18735E-5
14-78325541-G-A p.Thr114Thr synonymous ADCK1 3 81790 3.66793E-5 40895 0 4.97347E-5
14-78325571-G-A p.Gln124Gln synonymous ADCK1 65 81532 7.97233E-4 40766 0 0.00553877
14-78325573-G-C p.Ser125Thr missense ADCK1 3 81548 3.67881E-5 40774 0 1.91444E-4
14-78325576-G-T p.Ser126Ile missense ADCK1 1 81510 1.22684E-5 40755 0 3.18492E-5
14-78325585-A-G p.Glu129Gly missense ADCK1 8 81488 9.8174E-5 40744 0 4.79088E-5
14-78325590-C-T p.Arg131Cys missense ADCK1 2 81398 2.45706E-5 40699 0 7.98537E-6
14-78325593-C-T p.Gln132* stop_gained ADCK1 1 81370 1.22895E-5 40685 0 3.99259E-6
14-78325594-A-G p.Gln132Arg missense ADCK1 1 81386 1.22871E-5 40693 0 NA
14-78325602-C-T p.Arg135* stop_gained ADCK1 5 81172 6.15976E-5 40586 0 5.02487E-5
14-78325619-G-A p.Lys140Lys synonymous ADCK1 1 80924 1.23573E-5 40462 0 NA
14-78325625-A-G c.423+3A>G splice_region ADCK1 1 80568 1.24119E-5 40284 0 NA
14-78325626-C-T c.423+4C>T splice_region ADCK1 1 80550 1.24146E-5 40275 0 NA
14-78325627-C-T c.423+5C>T splice_region ADCK1 2 80536 2.48336E-5 40268 0 2.62334E-5
14-78325628-C-T c.423+6C>T splice_region ADCK1 5 80514 6.2101E-5 40257 0 6.14035E-4
14-78353429-G-A c.424-5G>A splice_region ADCK1 15 83080 1.80549E-4 41540 0 2.76919E-4
14-78353435-T-C p.Ile142Thr missense+splice_region ADCK1 2 83176 2.40454E-5 41588 0 3.18857E-5
14-78353436-C-G p.Ile142Met missense+splice_region ADCK1 1 83184 1.20215E-5 41592 0 8.88715E-6
14-78353439-T-A p.His143Gln missense ADCK1 1 83196 1.20198E-5 41598 0 NA
14-78353445-G-C p.Leu145Phe missense ADCK1 5 83210 6.00889E-5 41605 0 1.86258E-4
14-78353457-C-T p.Phe149Phe synonymous ADCK1 10 83216 1.20169E-4 41608 0 1.74022E-4
14-78353458-G-T p.Asp150Tyr missense ADCK1 1 83218 1.20166E-5 41609 0 NA
14-78353463-C-T p.Asp151Asp synonymous ADCK1 1 83236 1.2014E-5 41618 0 3.34905E-5
14-78353475-G-A p.Gly155Gly synonymous ADCK1 1 83274 1.20085E-5 41637 0 NA
14-78353477-C-T p.Thr156Met missense ADCK1 88 83262 0.0010569 41631 0 0.004375
14-78353478-G-T p.Thr156Thr synonymous ADCK1 3570 83188 0.0429148 41594 233 0.0710551
14-78353478-G-A p.Thr156Thr synonymous ADCK1 20 83264 2.402E-4 41632 0 0.00129786
14-78353513-A-G p.His168Arg missense ADCK1 1 83290 1.20062E-5 41645 0 8.34348E-6
14-78353514-T-C p.His168His synonymous ADCK1 4 83296 4.80215E-5 41648 1 1.66881E-5
14-78353521-C-T p.Arg171Trp missense ADCK1 2 83274 2.40171E-5 41637 0 5.03525E-4
14-78353525-C-T p.Thr172Met missense ADCK1 8 83268 9.60753E-5 41634 0 6.25E-4
14-78353526-G-T p.Thr172Thr synonymous ADCK1 1 83274 1.20085E-5 41637 0 3.18573E-5
14-78353526-G-A p.Thr172Thr synonymous ADCK1 2 83274 2.40171E-5 41637 0 1.67283E-5
14-78353532-C-T p.Ala174Ala synonymous ADCK1 1 83264 1.201E-5 41632 0 2.51463E-5
14-78353533-G-A p.Val175Met missense ADCK1 3 83264 3.603E-5 41632 0 1.5088E-4
14-78353546-A-C p.His179Pro missense ADCK1 2 83250 2.4024E-5 41625 0 5.06911E-5
14-78353548-C-T p.Pro180Ser missense ADCK1 1 83238 1.20137E-5 41619 0 NA
14-78353557-C-T p.Arg183Trp missense ADCK1 5 83196 6.0099E-5 41598 0 5.03525E-4
14-78353558-G-A p.Arg183Gln missense ADCK1 1 83198 1.20195E-5 41599 0 3.3097E-5
14-78353567-G-T p.Ser186Ile missense ADCK1 1 83072 1.20378E-5 41536 0 NA
14-78353570-C-T p.Ser187Leu missense ADCK1 1 83026 1.20444E-5 41513 0 6.37105E-5
14-78353571-G-A p.Ser187Ser synonymous ADCK1 2 83032 2.40871E-5 41516 0 8.69762E-6
14-78353579-T-C p.Ile190Thr missense ADCK1 2 82918 2.41202E-5 41459 0 NA
14-78353580-T-C p.Ile190Ile synonymous ADCK1 1 82926 1.20589E-5 41463 0 4.52952E-6
14-78353587-A-G p.Met193Val missense ADCK1 6 82888 7.23868E-5 41444 0 3.50609E-4
14-78365448-C-T p.Leu196Leu synonymous ADCK1 5 83326 6.00053E-5 41663 0 1.40144E-4
14-78365448-C-A p.Leu196Leu synonymous ADCK1 2 83326 2.40021E-5 41663 0 4.12188E-5
14-78365459-T-C p.Val200Ala missense ADCK1 1 83368 1.1995E-5 41684 0 NA
14-78365480-T-C p.Phe207Ser missense ADCK1 2 83396 2.3982E-5 41698 0 NA
14-78365487-TATGTG-T p.Met210fs frameshift ADCK1 1 83400 1.19904E-5 41700 0 NA
14-78365488-A-G p.Met210Val missense ADCK1 3 83400 3.59712E-5 41700 0 1.48263E-4
14-78365489-T-C p.Met210Thr missense ADCK1 1 83400 1.19904E-5 41700 0 NA
14-78365493-G-GAGTTCTT p.Leu212fs frameshift ADCK1 1 83398 1.19907E-5 41699 0 NA
14-78365504-A-C p.Glu215Ala missense ADCK1 1 83392 1.19916E-5 41696 0 8.23683E-6
14-78365515-A-G p.Asn219Asp missense ADCK1 1 83404 1.19898E-5 41702 0 8.23696E-6
14-78365516-A-G p.Asn219Ser missense ADCK1 1 83402 1.19901E-5 41701 0 NA
14-78365517-C-T p.Asn219Asn synonymous ADCK1 5 83404 5.99492E-5 41702 0 8.23696E-6
14-78365530-C-T p.Leu224Leu synonymous ADCK1 1 83402 1.19901E-5 41701 0 9.55353E-5
14-78365533-G-T p.Asp225Tyr missense ADCK1 15 83402 1.79852E-4 41701 0 0.0040282
14-78365543-A-G p.Asn228Ser missense ADCK1 16 83406 1.91833E-4 41703 2 5.76568E-5
14-78365548-G-A p.Gly230Arg missense ADCK1 2 83402 2.39802E-5 41701 0 3.1841E-5
14-78365559-T-C p.Ala233Ala synonymous ADCK1 2 83408 2.39785E-5 41704 0 6.36943E-5
14-78365580-C-G p.Leu240Leu synonymous ADCK1 18 83402 2.15822E-4 41701 0 5.03525E-4
14-78365585-A-G p.His242Arg missense ADCK1 1 83394 1.19913E-5 41697 0 3.97662E-6
14-78365603-T-TCCCCCGAATCCACTGGGACCTGTCC c.741+2_741+3insCCCCCGAATCCACTGGGACCTGTCC splice_region ADCK1 1 83386 1.19924E-5 41693 0 NA
14-78365603-T-C c.741+2T>C splice_donor ADCK1 1 83386 1.19924E-5 41693 0 NA
14-78365603-T-TCCCCCG c.741+2_741+3insCCCCCG splice_region ADCK1 1 83386 1.19924E-5 41693 0 NA
14-78365604-A-G c.741+3A>G splice_region ADCK1 1 83380 1.19933E-5 41690 0 3.97706E-6
14-78366916-C-T p.Ser199Ser synonymous ADCK1 39 9572 0.00407438 4786 0 0.00930621
14-78366919-G-C p.Glu200Asp missense ADCK1 2 9572 2.08943E-4 4786 0 NA
14-78366933-G-GAAC p.Thr210dup disruptive_inframe_insertion ADCK1 3622 9318 0.38871 4659 676 0.404151
14-78366933-GAAC-G p.Thr210del disruptive_inframe_deletion ADCK1 1 9570 1.04493E-4 4785 0 9.92064E-4
14-78366951-A-C p.Lys211Thr missense ADCK1 27 9572 0.00282073 4786 0 0.00672344
14-78366967-A-G p.Arg216Arg synonymous ADCK1 3930 9382 0.418887 4691 873 0.456875
14-78367020-G-C c.*41+3G>C splice_region ADCK1 1 9558 1.04624E-4 4779 0 NA
14-78374141-C-T c.742-5C>T splice_region ADCK1 3 82524 3.63531E-5 41262 0 NA
14-78374152-C-T p.Arg250* stop_gained ADCK1 3 82636 3.63038E-5 41318 0 4.33043E-5
14-78374153-G-A p.Arg250Gln missense ADCK1 4 82648 4.8398E-5 41324 0 3.18471E-5
14-78374166-C-T p.Asp254Asp synonymous ADCK1 1 82798 1.20776E-5 41399 0 3.1841E-5
14-78374172-C-T p.Ser256Ser synonymous ADCK1 9388 82612 0.11364 41306 565 0.111279
14-78374174-C-T p.Thr257Met missense ADCK1 3 82856 3.62074E-5 41428 0 6.25E-4
14-78374175-G-A p.Thr257Thr synonymous ADCK1 6 82864 7.24078E-5 41432 0 5.03525E-4
14-78374179-C-T p.Arg259Trp missense ADCK1 1 82912 1.2061E-5 41456 0 8.25887E-6
14-78374179-C-A p.Arg259Arg synonymous ADCK1 2 82912 2.4122E-5 41456 0 2.2677E-4
14-78374180-G-A p.Arg259Gln missense ADCK1 7 82934 8.44045E-5 41467 0 3.30311E-5
14-78374187-C-T p.Leu261Leu synonymous ADCK1 1 82912 1.2061E-5 41456 0 NA
14-78374194-G-C p.Glu264Gln missense ADCK1 4 82940 4.82276E-5 41470 0 1.19323E-5
14-78374201-T-C p.Val266Ala missense ADCK1 8 82962 9.64297E-5 41481 0 1.27437E-4
14-78374208-C-T p.Gly268Gly synonymous ADCK1 4 82950 4.82218E-5 41475 0 9.55536E-5
14-78374209-G-A p.Gly269Arg missense ADCK1 1 82976 1.20517E-5 41488 0 8.24307E-5
14-78374214-G-A p.Gln270Gln synonymous ADCK1 2 82980 2.41022E-5 41490 0 NA
14-78374216-T-C p.Val271Ala missense ADCK1 13 82952 1.56717E-4 41476 1 5.03525E-4
14-78374219-A-G p.Asn272Ser missense ADCK1 3 82990 3.61489E-5 41495 0 6.37105E-5
14-78374222-A-G p.Asp273Gly missense ADCK1 2 83006 2.40946E-5 41503 0 8.2428E-6
14-78374229-C-A p.Asp275Glu missense ADCK1 1 82996 1.20488E-5 41498 0 NA
14-78374240-G-A p.Arg279Lys missense ADCK1 1 83022 1.2045E-5 41511 0 NA
14-78374250-C-T p.Ile282Ile synonymous ADCK1 1 82936 1.20575E-5 41468 0 3.18613E-5
14-78374253-C-T p.Asp283Asp synonymous ADCK1 3 82894 3.61908E-5 41447 0 3.18532E-5
14-78374254-G-A p.Val284Ile missense ADCK1 1 82884 1.20651E-5 41442 0 6.60829E-5
14-78390789-TTCTCTTTCAGA-T p.Ile287fs frameshift ADCK1 1 81938 1.22043E-5 40969 0 3.19862E-5
14-78390801-T-A p.Ile287Asn missense+splice_region ADCK1 1 82260 1.21566E-5 41130 0 NA
14-78390806-C-T p.Arg289Cys missense ADCK1 5 82356 6.0712E-5 41178 0 1.27348E-4
14-78390817-C-G p.Gly292Gly synonymous ADCK1 1 82550 1.21139E-5 41275 0 NA
14-78390822-T-A p.Met294Lys missense ADCK1 1 82644 1.21001E-5 41322 0 NA
14-78390832-G-C p.Glu297Asp missense ADCK1 2 82788 2.41581E-5 41394 0 NA
14-78390841-C-T p.Phe300Phe synonymous ADCK1 15 82866 1.81015E-4 41433 0 1.40171E-4
14-78390845-A-G p.Asn302Asp missense ADCK1 3 82954 3.61646E-5 41477 0 1.64908E-5
14-78390846-A-G p.Asn302Ser missense ADCK1 2 82938 2.41144E-5 41469 0 1.19412E-5
14-78390853-C-T p.Phe265Phe splice_region+synonymous ADCK1 2 82938 2.41144E-5 41469 0 6.36862E-5
14-78390854-G-A p.Val305Met missense ADCK1 2 82934 2.41156E-5 41467 0 4.94829E-5
14-78390862-C-T p.Cys307Cys synonymous ADCK1 47 82910 5.6688E-4 41455 0 0.00309787
14-78390862-C-A p.Cys307* stop_gained ADCK1 1 82910 1.20613E-5 41455 0 3.98184E-6
14-78390863-G-A p.Asp308Asn missense ADCK1 3 82934 3.61733E-5 41467 0 1.91034E-4
14-78390866-C-T p.Pro309Ser missense ADCK1 1 82936 1.20575E-5 41468 0 NA
14-78390871-C-T p.His310His synonymous ADCK1 1 82922 1.20595E-5 41461 0 NA
14-78390874-C-T p.Pro311Pro synonymous ADCK1 8 82906 9.64948E-5 41453 0 1.27389E-4
14-78390879-A-G p.Asn313Ser missense ADCK1 3 82886 3.61943E-5 41443 0 1.59305E-5
14-78390880-T-C p.Asn313Asn synonymous ADCK1 16452 82576 0.199235 41288 1688 0.230121
14-78390890-C-T p.Arg317Trp missense ADCK1 24 82696 2.9022E-4 41348 0 2.2293E-4
14-78390899-C-G p.Pro320Ala missense ADCK1 1 82646 1.20998E-5 41323 0 5.03525E-4
14-78390901-C-T p.Pro320Pro synonymous ADCK1 1 82696 1.20925E-5 41348 0 2.48139E-5
14-78390902-G-A p.Gly321Ser missense ADCK1 1 82678 1.20951E-5 41339 0 8.27157E-6
14-78390906-C-T p.Thr322Met missense ADCK1 2 82626 2.42055E-5 41313 0 5.79441E-5
14-78390907-G-A p.Thr322Thr synonymous ADCK1 4 82624 4.84121E-5 41312 0 7.98161E-5
14-78390912-A-C p.Lys324Thr missense ADCK1 2 82614 2.4209E-5 41307 0 6.38631E-5
14-78390915-C-T p.Ala325Val missense ADCK1 1 82566 1.21115E-5 41283 0 1.65722E-5
14-78390924-T-G p.Val328Gly missense ADCK1 2 82332 2.42919E-5 41166 0 NA
14-78390936-A-G p.His332Arg missense ADCK1 1 82006 1.21942E-5 41003 0 NA
14-78390955-A-C c.1008+6A>C splice_region ADCK1 1 81328 1.22959E-5 40664 0 8.35199E-6
14-78390956-G-A c.1008+7G>A splice_region ADCK1 1 81268 1.2305E-5 40634 0 3.1841E-5
14-78392102-C-T c.1009-5C>T splice_region ADCK1 1 82966 1.20531E-5 41483 0 NA
14-78392102-C-G c.1009-5C>G splice_region ADCK1 1 82966 1.20531E-5 41483 0 3.98559E-6
14-78392106-G-T c.1009-1G>T splice_acceptor ADCK1 1 83020 1.20453E-5 41510 0 1.59373E-5
14-78392113-A-G p.Thr339Ala missense ADCK1 1 83096 1.20343E-5 41548 0 3.18492E-5
14-78392114-C-T p.Thr339Met missense ADCK1 1 83116 1.20314E-5 41558 0 6.36902E-5
14-78392115-G-A p.Thr339Thr synonymous ADCK1 1004 83062 0.0120874 41531 8 0.0186304
14-78392121-A-G p.Glu341Glu synonymous ADCK1 1 83146 1.2027E-5 41573 0 NA
14-78392125-C-T p.Arg343Cys missense ADCK1 3 83180 3.60664E-5 41590 0 4.94943E-5
14-78392140-C-T p.His348Tyr missense ADCK1 2 83236 2.40281E-5 41618 0 6.36821E-5
14-78392151-G-A p.Gln351Gln synonymous ADCK1 2 83252 2.40234E-5 41626 0 1.64766E-5
14-78392169-C-A p.Asp357Glu missense ADCK1 1 83298 1.20051E-5 41649 0 NA
14-78392171-T-G p.Met358Arg missense ADCK1 7 83290 8.40437E-5 41645 0 7.33091E-4
14-78392182-A-G p.Lys362Glu missense ADCK1 41 83306 4.92161E-4 41653 0 5.73321E-4
14-78392184-GGAGTAC-G p.Glu363_Tyr364del conservative_inframe_deletion ADCK1 1 83306 1.20039E-5 41653 0 1.64739E-5
14-78392190-C-T p.Tyr364Tyr synonymous ADCK1 3 83316 3.60075E-5 41658 0 7.95254E-6
14-78392192-G-C p.Ser365Thr missense ADCK1 2 83316 2.4005E-5 41658 0 NA
14-78392195-A-G p.Gln366Arg missense ADCK1 7 83324 8.40094E-5 41662 0 1.27413E-4
14-78392197-C-T p.Arg367* stop_gained ADCK1 23 83330 2.76011E-4 41665 0 5.03525E-4
14-78392198-G-A p.Arg367Gln missense ADCK1 1 83346 1.19982E-5 41673 0 8.2371E-6
14-78392208-C-T p.Ala370Ala synonymous ADCK1 1 83360 1.19962E-5 41680 0 0.00100705
14-78392209-G-A p.Gly371Arg missense ADCK1 2 83360 2.39923E-5 41680 0 4.11862E-5
14-78392229-T-G p.Phe377Leu missense ADCK1 2 83366 2.39906E-5 41683 0 NA
14-78392230-G-T p.Ala378Ser missense ADCK1 4 83364 4.79823E-5 41682 0 3.50452E-4
14-78392236-A-G p.Met380Val missense ADCK1 2 83366 2.39906E-5 41683 0 8.23778E-6
14-78392236-A-C p.Met380Leu missense ADCK1 1 83366 1.19953E-5 41683 0 NA
14-78392243-C-T p.Thr382Met missense ADCK1 5 83348 5.99894E-5 41674 0 3.18147E-5
14-78392244-G-A p.Thr382Thr synonymous ADCK1 3 83336 3.59988E-5 41668 0 2.47141E-5
14-78392246-C-T p.Ala383Val missense ADCK1 2 83326 2.40021E-5 41663 0 3.97706E-5
14-78392247-G-A p.Ala383Ala synonymous ADCK1 3 83328 3.60023E-5 41664 0 NA
14-78392248-C-T p.Arg384* stop_gained ADCK1 3 83318 3.60066E-5 41659 0 3.97712E-5
14-78392252-C-T p.Ser385Leu missense ADCK1 2 83324 2.40027E-5 41662 0 6.37064E-5
14-78392253-G-A p.Ser385Ser synonymous ADCK1 8 83316 9.602E-5 41658 0 6.36411E-5
14-78392261-C-T p.Ser388Leu missense ADCK1 5 83278 6.00399E-5 41639 0 9.55536E-5
14-78392262-G-A p.Ser388Ser synonymous ADCK1 3 83282 3.60222E-5 41641 0 1.6478E-5
14-78392264-T-TA p.Asn390fs frameshift ADCK1 1 83270 1.20091E-5 41635 0 NA
14-78392265-C-A p.Val389Val synonymous ADCK1 1 83268 1.20094E-5 41634 0 NA
14-78392279-G-A p.Ser394Asn missense ADCK1 1 83168 1.20239E-5 41584 0 NA
14-78392286-T-A p.Ala396Ala synonymous ADCK1 1 83050 1.20409E-5 41525 0 NA
14-78392289-C-T p.Pro397Pro synonymous ADCK1 23 82996 2.77122E-4 41498 3 0.0040282
14-78392290-G-A p.Val398Ile missense ADCK1 188 82966 0.00226599 41483 1 0.00337816
14-78392296-G-A p.Ala400Thr missense ADCK1 33 82844 3.98339E-4 41422 0 0.00375
14-78392311-G-A c.1206+7G>A splice_region ADCK1 1 82494 1.21221E-5 41247 0 NA
14-78397858-C-T c.1207-3C>T splice_region ADCK1 1 79824 1.25276E-5 39912 0 NA
14-78397861-G-T p.Asp403Tyr missense+splice_region ADCK1 2 79844 2.50488E-5 39922 0 3.18552E-5
14-78397865-T-C p.Leu404Ser missense ADCK1 3 79982 3.75084E-5 39991 0 8.55096E-6
14-78397874-G-A p.Arg407His missense ADCK1 1 80074 1.24884E-5 40037 0 8.46081E-6
14-78397881-C-T p.Asn409Asn synonymous ADCK1 21 80394 2.61214E-4 40197 0 5.03525E-4
14-78397884-G-A p.Ala410Ala synonymous ADCK1 1 80490 1.24239E-5 40245 0 7.97919E-6
14-78397887-C-T p.Ala411Ala synonymous ADCK1 1 80660 1.23977E-5 40330 0 NA
14-78397888-A-T p.Asn412Tyr missense ADCK1 8 80738 9.90859E-5 40369 0 3.18451E-5
14-78397890-C-T p.Asn412Asn synonymous ADCK1 3 80804 3.71269E-5 40402 0 3.1841E-5
14-78397893-C-T p.Tyr413Tyr synonymous ADCK1 1 80960 1.23518E-5 40480 0 NA
14-78397899-C-G p.Pro415Pro synonymous ADCK1 1 81108 1.23292E-5 40554 0 NA
14-78397906-A-G p.Ser418Gly missense ADCK1 21 81408 2.5796E-4 40704 0 3.18451E-4
14-78397923-C-T p.His423His synonymous ADCK1 2 81890 2.4423E-5 40945 0 4.13798E-5
14-78397924-G-A p.Val424Met missense ADCK1 4 81878 4.88532E-5 40939 0 2.78869E-5
14-78397928-C-T p.Pro425Leu missense ADCK1 1 81988 1.21969E-5 40994 0 4.13428E-5
14-78397929-G-A p.Pro425Pro synonymous ADCK1 7 81924 8.5445E-5 40962 0 2.23244E-4
14-78397930-C-T p.Arg426Cys missense ADCK1 19 81976 2.31775E-4 40988 0 0.00151057
14-78397931-G-A p.Arg426His missense ADCK1 7 82000 8.53659E-5 41000 0 9.55292E-5
14-78397955-C-G p.Thr434Ser missense ADCK1 2 82416 2.42671E-5 41208 0 NA
14-78397959-C-T p.Asn435Asn synonymous ADCK1 8 82412 9.70732E-5 41206 0 0.00125
14-78397960-G-A p.Asp436Asn missense ADCK1 2 82396 2.4273E-5 41198 0 3.18431E-5
14-78397962-CCTG-C p.Leu438del disruptive_inframe_deletion ADCK1 1 82414 1.21339E-5 41207 0 NA
14-78397969-C-T p.Arg439Cys missense ADCK1 1 82400 1.21359E-5 41200 0 6.25E-4
14-78397970-G-A p.Arg439His missense ADCK1 2 82424 2.42648E-5 41212 0 6.36862E-5
14-78397973-G-A p.Gly440Asp missense ADCK1 44 82480 5.33463E-4 41240 0 3.46729E-4
14-78397980-G-A p.Glu442Glu synonymous ADCK1 2 82476 2.42495E-5 41238 0 NA
14-78397983-C-T p.Ala443Ala synonymous ADCK1 82 82384 9.95339E-4 41192 0 0.0012738
14-78397989-G-A p.Leu445Leu synonymous ADCK1 3 82436 3.63919E-5 41218 0 8.26241E-6
14-78397991-G-T p.Gly446Val missense ADCK1 2 82378 2.42783E-5 41189 0 4.01729E-6
14-78397996-C-T p.Arg448Cys missense ADCK1 2 82450 2.42571E-5 41225 0 2.81813E-5
14-78397996-C-G p.Arg448Gly missense ADCK1 1 82450 1.21286E-5 41225 0 3.1841E-5
14-78397997-G-A p.Arg448His missense ADCK1 3 82422 3.63981E-5 41211 0 6.25E-4
14-78397998-C-T p.Arg448Arg synonymous ADCK1 1 82426 1.21321E-5 41213 0 1.61388E-5
14-78398004-C-T p.Ser450Ser synonymous ADCK1 5 82370 6.07017E-5 41185 0 0.00125
14-78398005-G-A p.Ala451Thr missense ADCK1 108 82286 0.0013125 41143 0 0.00172893
14-78398005-G-GCCAGCT p.Ser452_Ser453dup conservative_inframe_insertion ADCK1 2 82296 2.43025E-5 41148 0 8.27239E-6
14-78398025-G-A p.Met457Ile missense ADCK1 6 82178 7.30122E-5 41089 0 1.2738E-4
14-78398029-C-T p.Arg459Cys missense ADCK1 2 82112 2.4357E-5 41056 0 3.68164E-5
14-78398030-G-A p.Arg459His missense ADCK1 3 82060 3.65586E-5 41030 0 8.31131E-5
14-78398036-G-A p.Cys461Tyr missense ADCK1 1 81858 1.22163E-5 40929 0 3.18451E-5
14-78398045-C-T p.Ala464Val missense ADCK1 2 81414 2.45658E-5 40707 0 3.18573E-5
14-78398046-G-A p.Ala464Ala synonymous ADCK1 1 81324 1.22965E-5 40662 0 8.38743E-6
14-78398055-G-GCACAAGAAGAAGAATACC c.1400+1_1400+2insCACAAGAAGAAGAATACC splice_donor ADCK1 2 80952 2.4706E-5 40476 1 NA
14-78399558-TC-T c.1401-4delC splice_region ADCK1 2 83176 2.40454E-5 41588 0 NA
14-78399563-G-A p.Glu467Glu splice_region+synonymous ADCK1 2 83234 2.40286E-5 41617 0 3.99556E-5
14-78399566-CAAG-C p.Lys471del disruptive_inframe_deletion ADCK1 3 83250 3.6036E-5 41625 0 NA
14-78399583-G-A p.Cys474Tyr missense ADCK1 2 83334 2.39998E-5 41667 0 3.18735E-5
14-78399584-T-C p.Cys474Cys synonymous ADCK1 1 83338 1.19993E-5 41669 0 NA
14-78399587-A-G p.Ser475Ser synonymous ADCK1 1 83338 1.19993E-5 41669 0 8.24171E-6
14-78399588-T-C p.Phe476Leu missense ADCK1 1 83348 1.19979E-5 41674 0 8.24103E-6
14-78399614-C-A p.Phe484Leu missense ADCK1 1 83366 1.19953E-5 41683 0 3.97643E-6
14-78399617-CG-C p.Glu486fs frameshift ADCK1 1 83362 1.19959E-5 41681 0 NA
14-78399617-C-T p.Ser485Ser synonymous ADCK1 5 83362 5.99794E-5 41681 0 3.18451E-5
14-78399622-C-A p.Ala487Asp missense ADCK1 2 83366 2.39906E-5 41683 0 0.00100705
14-78399623-C-A p.Ala487Ala synonymous ADCK1 2 83374 2.39883E-5 41687 0 2.54793E-4
14-78399633-T-C p.Trp491Arg missense ADCK1 1 83374 1.19941E-5 41687 0 8.23669E-6
14-78399653-G-A p.Glu497Glu synonymous ADCK1 1 83382 1.1993E-5 41691 0 3.1835E-5
14-78399660-CTGCG-C p.Arg501fs frameshift ADCK1 1 83380 1.19933E-5 41690 0 NA
14-78399663-C-T p.Arg501Cys missense ADCK1 5 83370 5.99736E-5 41685 0 6.58924E-5
14-78399664-G-A p.Arg501His missense ADCK1 49 83368 5.87755E-4 41684 0 4.09559E-4
14-78399684-G-T p.Ala508Ser missense ADCK1 2 83360 2.39923E-5 41680 0 NA
14-78399690-C-T p.Arg510Trp missense ADCK1 12 83350 1.43971E-4 41675 0 1.91156E-4
14-78399691-G-A p.Arg510Gln missense ADCK1 1 83348 1.19979E-5 41674 0 1.27453E-4
14-78399694-T-A p.Val511Asp missense ADCK1 5 83336 5.99981E-5 41668 0 NA
14-78399695-C-T p.Val511Val synonymous ADCK1 28 83338 3.35981E-4 41669 0 0.00125
14-78399728-A-G p.Pro522Pro synonymous ADCK1 1 83240 1.20135E-5 41620 0 8.23832E-6