Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-52773709-T-C c.*9A>G splice_region CYP24A1 1 81902 1.22097E-5 40951 0 8.09304E-6
20-52773719-T-C p.Ter515Ter stop_retained CYP24A1 1 82406 1.2135E-5 41203 0 NA
20-52773723-G-A p.Arg514* stop_gained CYP24A1 1 82496 1.21218E-5 41248 0 3.83039E-5
20-52773733-C-T p.Ala510Ala synonymous CYP24A1 3 82712 3.62704E-5 41356 0 6.36983E-5
20-52773734-G-A p.Ala510Val missense CYP24A1 182 82728 0.00219998 41364 1 0.00519108
20-52773736-G-A p.Ile509Ile synonymous CYP24A1 1375 82672 0.016632 41336 40 0.0390152
20-52773738-TG-T p.Ile509fs frameshift CYP24A1 1 82824 1.20738E-5 41412 0 3.98988E-6
20-52773740-G-T p.Pro508His missense CYP24A1 1 82818 1.20747E-5 41409 0 NA
20-52773749-C-T p.Arg505Gln missense CYP24A1 3 82880 3.61969E-5 41440 0 1.74164E-5
20-52773749-C-A p.Arg505Leu missense CYP24A1 1 82880 1.20656E-5 41440 0 NA
20-52773750-G-A p.Arg505Trp missense CYP24A1 4 82904 4.82486E-5 41452 0 3.18471E-5
20-52773755-G-A p.Pro503Leu missense CYP24A1 10 82932 1.20581E-4 41466 0 0.00100705
20-52773758-ACCAGGGTG-A p.Thr500fs frameshift CYP24A1 1 82954 1.20549E-5 41477 0 6.3678E-5
20-52773763-G-A p.Thr500Thr synonymous CYP24A1 5 82996 6.02439E-5 41498 0 0.00100705
20-52773764-G-A p.Thr500Ile missense CYP24A1 1 82994 1.20491E-5 41497 0 3.18431E-5
20-52773769-T-C p.Ser498Ser synonymous CYP24A1 3 83024 3.61341E-5 41512 0 8.54482E-6
20-52773778-C-T p.Met495Ile missense CYP24A1 1 83066 1.20386E-5 41533 0 NA
20-52773797-T-G p.Asp489Ala missense CYP24A1 1 83074 1.20375E-5 41537 0 NA
20-52773803-G-A p.Ala487Val missense CYP24A1 2 83076 2.40743E-5 41538 0 1.53035E-4
20-52773814-G-A p.Tyr483Tyr synonymous CYP24A1 4 83072 4.8151E-5 41536 0 3.18431E-5
20-52773822-G-A p.Arg481Cys missense CYP24A1 8 83062 9.63136E-5 41531 0 8.50832E-5
20-52773922-T-G c.1434+5A>C splice_region CYP24A1 11 83250 1.32132E-4 41625 0 1.11379E-4
20-52773930-A-G p.Cys477Cys synonymous CYP24A1 3 83270 3.60274E-5 41635 0 4.13073E-5
20-52773931-C-A p.Cys477Phe missense CYP24A1 1 83268 1.20094E-5 41634 0 NA
20-52773933-AAG-A p.Cys477fs frameshift CYP24A1 1 83272 1.20088E-5 41636 0 5.03525E-4
20-52773939-CA-C p.Leu474fs frameshift CYP24A1 1 83280 1.20077E-5 41640 0 8.2511E-6
20-52773946-A-T p.Leu472Gln missense CYP24A1 1 83286 1.20068E-5 41643 0 8.24552E-6
20-52773951-A-T p.Leu470Leu synonymous CYP24A1 1 83294 1.20057E-5 41647 0 8.24565E-6
20-52773952-A-T p.Leu470His missense CYP24A1 1 83294 1.20057E-5 41647 0 NA
20-52773964-C-T p.Arg466Gln missense CYP24A1 3 83284 3.60213E-5 41642 0 2.78394E-5
20-52773965-G-A p.Arg466* stop_gained CYP24A1 4 83280 4.80307E-5 41640 0 0.001875
20-52773968-G-A p.Arg465Cys missense CYP24A1 1 83280 1.20077E-5 41640 0 NA
20-52773970-C-T p.Gly464Asp missense CYP24A1 1 83284 1.20071E-5 41642 0 NA
20-52773973-A-G p.Ile463Thr missense CYP24A1 1 83278 1.2008E-5 41639 0 NA
20-52773974-T-C p.Ile463Val missense CYP24A1 5 83276 6.00413E-5 41638 0 9.55292E-5
20-52773975-GCA-G p.Cys462fs frameshift CYP24A1 1 83282 1.20074E-5 41641 0 NA
20-52773976-C-T p.Cys462Tyr missense CYP24A1 3 83282 3.60222E-5 41641 0 4.77236E-5
20-52773979-AT-A p.Met461fs frameshift CYP24A1 1 83282 1.20074E-5 41641 0 3.97693E-6
20-52773982-C-CT p.Arg460fs frameshift CYP24A1 1 83290 1.20062E-5 41645 0 NA
20-52773992-C-T p.Val457Ile missense CYP24A1 48 83268 5.76452E-4 41634 0 0.0040282
20-52774006-T-C p.His452Arg missense CYP24A1 8 83222 9.61284E-5 41611 0 2.47566E-5
20-52774007-G-A p.His452Tyr missense CYP24A1 1 83212 1.20175E-5 41606 0 NA
20-52774008-C-T p.Ala451Ala synonymous CYP24A1 2 83206 2.40367E-5 41603 0 9.94313E-5
20-52774009-G-A p.Ala451Val missense CYP24A1 5 83200 6.00962E-5 41600 0 6.3678E-5
20-52774021-A-T p.Ile447Asn missense CYP24A1 1 83184 1.20215E-5 41592 0 NA
20-52774031-TCTC-T p.Glu443del conservative_inframe_deletion CYP24A1 1 83148 1.20267E-5 41574 0 3.97744E-6
20-52774032-C-T p.Glu443Glu synonymous CYP24A1 1 83128 1.20296E-5 41564 0 3.97731E-6
20-52774035-CT-C p.Gln442fs frameshift CYP24A1 4 83122 4.8122E-5 41561 0 3.18613E-5
20-52774045-C-T p.Arg439His missense CYP24A1 3 83094 3.61037E-5 41547 0 0.00151057
20-52774046-G-A p.Arg439Cys missense CYP24A1 4 83102 4.81336E-5 41551 0 3.97839E-5
20-52774046-G-T p.Arg439Ser missense CYP24A1 2 83102 2.40668E-5 41551 0 6.36659E-5
20-52774048-T-TAA p.Glu438fs frameshift CYP24A1 1 83106 1.20328E-5 41553 0 NA
20-52774053-T-TTA p.Arg436fs frameshift CYP24A1 1 83090 1.20351E-5 41545 0 NA
20-52774056-A-C p.Phe435Leu missense CYP24A1 2 83080 2.40732E-5 41540 0 NA
20-52774056-A-AAACAGCCTTGCACTGGGGTTTT p.Phe435fs frameshift CYP24A1 1 83080 1.20366E-5 41540 0 NA
20-52774063-C-A p.Ser433Ile missense CYP24A1 1 83044 1.20418E-5 41522 0 7.95855E-6
20-52774116-G-A p.Leu415Leu synonymous CYP24A1 1 81718 1.22372E-5 40859 0 NA
20-52774122-T-G p.Thr413Thr splice_region+synonymous CYP24A1 1 81450 1.22775E-5 40725 0 NA
20-52774128-A-C c.1237-4T>G splice_region CYP24A1 2 81018 2.46859E-5 40509 0 8.38687E-6
20-52774129-A-G c.1237-5T>C splice_region CYP24A1 1 80932 1.23561E-5 40466 0 3.1835E-5
20-52774626-C-T p.Gly412Glu missense+splice_region CYP24A1 5 80408 6.21829E-5 40204 0 9.10777E-5
20-52774633-G-A p.Pro410Ser missense CYP24A1 2 80764 2.47635E-5 40382 0 1.59349E-5
20-52774635-A-G p.Leu409Ser missense CYP24A1 70 80840 8.65908E-4 40420 0 7.48807E-4
20-52774640-A-G p.Tyr407Tyr synonymous CYP24A1 1 81040 1.23396E-5 40520 0 4.13312E-5
20-52774642-A-T p.Tyr407Asn missense CYP24A1 8 81096 9.86485E-5 40548 0 3.1839E-5
20-52774647-C-T p.Gly405Asp missense CYP24A1 1 81188 1.23171E-5 40594 0 NA
20-52774654-C-T p.Val403Ile missense CYP24A1 2 81284 2.46051E-5 40642 0 5.03525E-4
20-52774655-TG-T p.Thr402fs frameshift CYP24A1 1 81342 1.22938E-5 40671 0 NA
20-52774674-C-T p.Arg396Gln missense CYP24A1 6 81250 7.38462E-5 40625 0 7.16486E-5
20-52774675-G-A p.Arg396Trp missense CYP24A1 97 81286 0.00119332 40643 0 0.00101904
20-52774686-G-GGTAC p.Pro392fs frameshift CYP24A1 3 81172 3.69586E-5 40586 0 NA
20-52774694-C-T p.Pro389Pro synonymous CYP24A1 2 80916 2.4717E-5 40458 0 3.1839E-5
20-52774695-G-A p.Pro389Leu missense CYP24A1 1 80822 1.23729E-5 40411 0 8.31656E-6
20-52774697-C-T p.Thr388Thr synonymous CYP24A1 10 80636 1.24014E-4 40318 0 6.25E-4
20-52774698-G-A p.Thr388Met missense CYP24A1 4 80694 4.957E-5 40347 0 6.3674E-5
20-52775491-C-T c.1157+5G>A splice_region CYP24A1 1 81900 1.221E-5 40950 0 3.1841E-5
20-52775500-T-C p.Met385Val missense CYP24A1 2 82050 2.43754E-5 41025 0 8.24008E-6
20-52775506-C-G p.Glu383Gln missense CYP24A1 6 82218 7.29767E-5 41109 0 7.15831E-5
20-52775510-C-G p.Leu381Leu synonymous CYP24A1 2 82272 2.43096E-5 41136 0 8.23954E-6
20-52775514-C-T p.Cys380Tyr missense CYP24A1 1 82296 1.21513E-5 41148 0 9.55292E-5
20-52775528-C-T p.Pro375Pro synonymous CYP24A1 20467 81774 0.250287 40887 2884 0.294536
20-52775529-G-A p.Pro375Leu missense CYP24A1 7 82426 8.49247E-5 41213 0 5.76663E-5
20-52775532-A-G p.Met374Thr missense CYP24A1 974 82494 0.0118069 41247 39 0.0254745
20-52775539-T-G p.Arg372Arg synonymous CYP24A1 1 82568 1.21112E-5 41284 0 NA
20-52775543-ATCT-A p.Glu369del disruptive_inframe_deletion CYP24A1 1 82624 1.2103E-5 41312 0 4.11889E-5
20-52775550-G-T p.Ala368Glu missense CYP24A1 3 82620 3.63108E-5 41310 0 7.9538E-6
20-52775553-C-T p.Arg367Gln missense CYP24A1 11 82624 1.33133E-4 41312 0 5.03525E-4
20-52775554-G-A p.Arg367Trp missense CYP24A1 1 82622 1.21033E-5 41311 0 1.64761E-5
20-52775555-T-A p.Pro366Pro synonymous CYP24A1 3 82652 3.62968E-5 41326 0 0.001875
20-52775570-A-G p.Pro361Pro synonymous CYP24A1 11 82670 1.33059E-4 41335 1 0.0020141
20-52775573-T-C p.Leu360Leu synonymous CYP24A1 5 82646 6.0499E-5 41323 0 4.94307E-5
20-52775584-G-A p.Gln357* stop_gained CYP24A1 1 82648 1.20995E-5 41324 0 NA
20-52775589-T-C p.Glu355Gly missense CYP24A1 1 82684 1.20942E-5 41342 0 NA
20-52775593-T-G p.Lys354Gln missense CYP24A1 1 82656 1.20983E-5 41328 0 7.95387E-6
20-52775600-C-A p.Lys351Asn missense CYP24A1 1 82630 1.21021E-5 41315 0 NA
20-52775600-CT-C p.Lys351fs frameshift CYP24A1 3 82630 3.63064E-5 41315 0 NA
20-52775622-C-T p.Arg344His missense CYP24A1 58 82496 7.03064E-4 41248 0 0.00151057
20-52775624-G-A p.Ser343Ser synonymous CYP24A1 2 82528 2.42342E-5 41264 0 5.03525E-4
20-52775628-A-G p.Leu342Ser missense CYP24A1 1 82530 1.21168E-5 41265 0 3.977E-6
20-52775630-AT-A p.Asn341fs frameshift CYP24A1 2 82482 2.42477E-5 41241 0 1.5908E-5
20-52775631-T-C p.Asn341Ser missense CYP24A1 1 82502 1.21209E-5 41251 0 NA
20-52775633-G-A p.Tyr340Tyr synonymous CYP24A1 3 82458 3.63822E-5 41229 0 5.03525E-4
20-52775634-T-C p.Tyr340Cys missense CYP24A1 2 82436 2.42612E-5 41218 0 8.23995E-6
20-52775646-ATTAGACTG-A p.Ser334fs frameshift CYP24A1 7 82306 8.50485E-5 41153 0 7.55641E-5
20-52775657-T-G p.Ala332Ala synonymous CYP24A1 2 82116 2.43558E-5 41058 0 8.24226E-6
20-52775659-C-T p.Ala332Thr missense CYP24A1 2 82044 2.43772E-5 41022 0 3.97753E-6
20-52779253-T-C c.990+3A>G splice_region CYP24A1 1 83086 1.20357E-5 41543 0 8.23805E-6
20-52779255-C-T c.990+1G>A splice_donor CYP24A1 2 83106 2.40657E-5 41553 0 8.23778E-6
20-52779256-C-T p.Thr330Thr splice_region+synonymous CYP24A1 3 83114 3.6095E-5 41557 0 3.18837E-5
20-52779257-G-A p.Thr330Met missense+splice_region CYP24A1 11 83120 1.32339E-4 41560 0 7.95254E-5
20-52779263-A-G p.Val328Ala missense CYP24A1 1 83136 1.20285E-5 41568 0 3.19E-5
20-52779265-C-T p.Ala327Ala synonymous CYP24A1 2 83130 2.40587E-5 41565 0 3.18898E-5
20-52779265-C-G p.Ala327Ala synonymous CYP24A1 2 83132 2.40581E-5 41566 0 NA
20-52779266-G-A p.Ala327Val missense CYP24A1 2 83102 2.40668E-5 41551 0 3.19101E-5
20-52779282-C-T p.Glu322Lys missense CYP24A1 4 83114 4.81267E-5 41557 0 1.91302E-4
20-52779288-C-CA p.Val320fs frameshift CYP24A1 1 83108 1.20325E-5 41554 0 NA
20-52779292-A-G p.Ala318Ala synonymous CYP24A1 1 83108 1.20325E-5 41554 0 3.9763E-6
20-52779294-C-T p.Ala318Thr missense CYP24A1 2 83098 2.4068E-5 41549 0 3.9763E-6
20-52779298-C-A p.Leu316Phe missense CYP24A1 2 83108 2.40651E-5 41554 0 NA
20-52779307-C-T p.Lys313Lys synonymous CYP24A1 1 83070 1.2038E-5 41535 0 NA
20-52779309-T-A p.Lys313* stop_gained CYP24A1 1 83060 1.20395E-5 41530 0 NA
20-52779317-C-T p.Arg310Gln missense CYP24A1 2 83036 2.40859E-5 41518 0 1.1929E-5
20-52779318-G-T p.Arg310Arg synonymous CYP24A1 2 83048 2.40825E-5 41524 0 6.25E-4
20-52779325-G-A p.His307His synonymous CYP24A1 2 83038 2.40854E-5 41519 0 1.19291E-5
20-52779338-C-G p.Cys303Ser missense CYP24A1 32 83030 3.85403E-4 41515 3 0.00375
20-52779342-G-A p.Leu302Phe missense CYP24A1 5 83010 6.02337E-5 41505 0 3.18776E-5
20-52779350-G-T p.Ala299Glu missense CYP24A1 1 82966 1.20531E-5 41483 0 NA
20-52779372-T-C p.Lys292Glu missense CYP24A1 1 82918 1.20601E-5 41459 0 NA
20-52779380-C-T p.Arg289Gln missense CYP24A1 5 82874 6.03326E-5 41437 0 3.18695E-5
20-52779381-G-T p.Arg289Arg synonymous CYP24A1 1 82866 1.20677E-5 41433 0 1.19295E-5
20-52779381-G-A p.Arg289Trp missense CYP24A1 1 82866 1.20677E-5 41433 0 1.19295E-5
20-52779384-T-G p.Asn288His missense CYP24A1 2 82840 2.41429E-5 41420 0 NA
20-52779385-G-T p.Asp287Glu missense CYP24A1 2 82850 2.414E-5 41425 0 3.97649E-6
20-52779387-C-T p.Asp287Asn missense CYP24A1 8 82818 9.65974E-5 41409 0 5.03525E-4
20-52779387-C-G p.Asp287His missense CYP24A1 4 82818 4.82987E-5 41409 0 NA
20-52779388-G-A p.Ile286Ile synonymous CYP24A1 3 82838 3.62153E-5 41419 0 1.59066E-5
20-52779390-T-C p.Ile286Val missense CYP24A1 14 82818 1.69045E-4 41409 0 0.0040282
20-52779395-G-T p.Ala284Asp missense CYP24A1 3 82800 3.62319E-5 41400 0 3.18593E-5
20-52779397-T-A p.Lys283Asn missense CYP24A1 2 82764 2.41651E-5 41382 0 NA
20-52779398-T-C p.Lys283Arg missense CYP24A1 1 82744 1.20855E-5 41372 0 3.97665E-6
20-52779402-C-CT c.845-2_845-1insA splice_acceptor CYP24A1 1 82666 1.20969E-5 41333 0 9.55962E-5
20-52779403-T-C c.845-2A>G splice_acceptor CYP24A1 3 82642 3.63012E-5 41321 0 3.18695E-5
20-52780985-C-G c.844+6G>C splice_region CYP24A1 2 78384 2.55154E-5 39192 0 8.23683E-6
20-52780993-G-C p.Ser281* stop_gained CYP24A1 1 79294 1.26113E-5 39647 0 8.23642E-6
20-52780998-G-GA p.Lys280fs frameshift CYP24A1 1 79624 1.2559E-5 39812 0 NA
20-52781020-G-C p.Thr272Ser missense CYP24A1 3 81368 3.68695E-5 40684 0 3.97741E-6
20-52781025-G-T p.Asp270Glu missense CYP24A1 4 81600 4.90196E-5 40800 0 6.37633E-5
20-52781026-T-C p.Asp270Gly missense CYP24A1 1 81630 1.22504E-5 40815 0 NA
20-52781033-A-AAAATAAAAAAGTAAAATTTATAGAGTCAGG p.Val267_Trp268insProAspSerIleAsnPheThrPheLeuPhe conservative_inframe_insertion CYP24A1 1 81942 1.22038E-5 40971 0 NA
20-52781051-T-C p.Ser262Gly missense CYP24A1 4 82144 4.8695E-5 41072 1 5.03525E-4
20-52781052-C-T p.Lys261Lys synonymous CYP24A1 1 82156 1.2172E-5 41078 0 6.37186E-5
20-52781052-C-G p.Lys261Asn missense CYP24A1 1 82156 1.2172E-5 41078 0 NA
20-52781060-G-A p.Leu259Leu synonymous CYP24A1 2 82064 2.43712E-5 41032 0 3.18735E-5
20-52781064-G-A p.Val257Val synonymous CYP24A1 20 82070 2.43694E-4 41035 0 1.64728E-5
20-52781073-G-A p.Val254Val synonymous CYP24A1 1 81908 1.22088E-5 40954 0 NA
20-52781081-T-A p.Met252Leu missense CYP24A1 1 81712 1.22381E-5 40856 0 NA
20-52781082-C-T p.Arg251Arg synonymous CYP24A1 9 81658 1.10216E-4 40829 0 1.72965E-4
20-52781091-C-T p.Thr248Thr synonymous CYP24A1 8227 80630 0.102034 40315 516 0.140625
20-52781100-C-T p.Met245Ile missense+splice_region CYP24A1 53 80606 6.57519E-4 40303 0 0.00100705
20-52782274-T-A c.732+7A>T splice_region CYP24A1 1 81292 1.23013E-5 40646 0 2.05972E-4
20-52782298-T-C p.Ile239Val missense CYP24A1 1 81960 1.22011E-5 40980 0 NA
20-52782303-T-C p.Asn237Ser missense CYP24A1 1 82044 1.21886E-5 41022 0 3.97655E-6
20-52782308-A-G p.Ala235Ala synonymous CYP24A1 1 82114 1.21782E-5 41057 0 NA
20-52782318-C-T p.Gly232Glu missense CYP24A1 3 82238 3.64795E-5 41119 0 1.39185E-4
20-52782335-A-T p.Leu226Leu synonymous CYP24A1 3 82120 3.65319E-5 41060 0 NA
20-52782337-G-T p.Leu226Ile missense CYP24A1 3 82106 3.65381E-5 41053 0 NA
20-52782346-T-A p.Arg223* stop_gained CYP24A1 2 81928 2.44117E-5 40964 0 2.47117E-5
20-52782352-C-T p.Glu221Lys missense CYP24A1 1 81824 1.22214E-5 40912 0 8.23737E-6
20-52782361-C-A p.Val218Leu missense CYP24A1 2 81518 2.45345E-5 40759 0 6.25E-4
20-52782361-C-T p.Val218Met missense CYP24A1 2 81518 2.45345E-5 40759 0 4.11909E-5
20-52782362-G-A p.Leu217Leu synonymous CYP24A1 3 81432 3.68406E-5 40716 0 NA
20-52782368-G-C p.Ile215Met missense CYP24A1 1 81202 1.2315E-5 40601 0 3.97788E-6
20-52782375-G-A c.641-3C>T splice_region CYP24A1 1 80604 1.24063E-5 40302 0 6.25E-4
20-52782379-T-C c.641-7A>G splice_region CYP24A1 2 80248 2.49227E-5 40124 0 1.9496E-4
20-52786138-C-T p.Ser211Ser synonymous CYP24A1 4 81590 4.90256E-5 40795 0 3.97738E-4
20-52786138-C-G p.Ser211Ser synonymous CYP24A1 2 81590 2.45128E-5 40795 0 6.3674E-5
20-52786139-G-A p.Ser211Leu missense CYP24A1 2 81670 2.44888E-5 40835 0 NA
20-52786143-A-G p.Trp210Arg missense CYP24A1 1 81902 1.22097E-5 40951 0 NA
20-52786152-G-C p.Leu207Val missense CYP24A1 4 82102 4.87199E-5 41051 0 3.29522E-5
20-52786155-C-T p.Glu206Lys missense CYP24A1 26 82100 3.16687E-4 41050 1 7.00369E-4
20-52786156-G-A p.Ser205Ser synonymous CYP24A1 1 82136 1.21749E-5 41068 0 1.19312E-5
20-52786167-C-G p.Asp202His missense CYP24A1 67 82314 8.13956E-4 41157 0 0.00181471
20-52786173-C-T p.Val200Ile missense CYP24A1 2 82344 2.42884E-5 41172 0 6.25E-4
20-52786174-G-A p.His199His synonymous CYP24A1 1 82368 1.21406E-5 41184 0 3.18451E-5
20-52786194-G-T p.Leu193Ile missense CYP24A1 34 82314 4.13052E-4 41157 1 0.00304818
20-52786195-C-G p.Glu192Asp missense CYP24A1 4 82328 4.85861E-5 41164 0 3.87214E-4
20-52786196-T-C p.Glu192Gly missense CYP24A1 5 82304 6.07504E-5 41152 0 3.1837E-5
20-52786200-C-T p.Asp191Asn missense CYP24A1 2 82268 2.43108E-5 41134 0 7.95425E-6
20-52786200-C-A p.Asp191Tyr missense CYP24A1 1 82268 1.21554E-5 41134 0 6.36902E-5
20-52786209-C-T p.Gly188Ser missense CYP24A1 2 82142 2.43481E-5 41071 0 NA
20-52786217-T-G p.Asp185Ala missense CYP24A1 1 81910 1.22085E-5 40955 0 NA
20-52786218-C-T p.Asp185Asn missense CYP24A1 1 81888 1.22118E-5 40944 0 NA
20-52786219-G-A p.Ala184Ala synonymous CYP24A1 41187 79226 0.519867 39613 10915 0.56999
20-52786223-A-G p.Leu183Ser missense CYP24A1 1 81674 1.22438E-5 40837 0 1.59136E-5
20-52786224-A-C p.Leu183Val missense CYP24A1 1 81676 1.22435E-5 40838 0 6.25E-4
20-52788126-T-C p.Lys178Arg missense CYP24A1 14 81526 1.71724E-4 40763 0 0.00104493
20-52788154-G-C p.Pro169Ala missense CYP24A1 1 82140 1.21743E-5 41070 0 NA
20-52788154-G-T p.Pro169Thr missense CYP24A1 1 82140 1.21743E-5 41070 0 NA
20-52788169-T-C p.Lys164Glu missense CYP24A1 1 82128 1.21761E-5 41064 0 8.23655E-6
20-52788171-T-C p.Gln163Arg missense CYP24A1 4 82100 4.87211E-5 41050 0 NA
20-52788172-G-C p.Gln163Glu missense CYP24A1 1 82154 1.21723E-5 41077 0 NA
20-52788180-C-T p.Ser160Asn missense CYP24A1 2 81964 2.4401E-5 40982 0 NA
20-52788184-G-A p.Arg159Trp missense CYP24A1 3 81806 3.66721E-5 40903 0 7.56183E-5
20-52788186-A-G p.Val158Ala missense CYP24A1 30 81804 3.6673E-4 40902 0 6.17742E-4
20-52788189-C-T p.Arg157Gln missense CYP24A1 320 81736 0.00391504 40868 2 0.00296082
20-52788190-G-T p.Arg157Arg synonymous CYP24A1 1742 81606 0.0213465 40803 22 0.0275517
20-52788190-G-A p.Arg157Trp missense CYP24A1 214 81698 0.0026194 40849 0 0.00197616
20-52788193-G-T p.Gln156Lys missense CYP24A1 6 81722 7.34196E-5 40861 0 1.59174E-5
20-52788197-G-A p.Asp154Asp synonymous CYP24A1 1 81584 1.22573E-5 40792 0 NA
20-52788218-G-A p.Phe5Phe synonymous CYP24A1 1 80544 1.24156E-5 40272 0 NA
20-52788221-G-A p.Cys4Cys synonymous CYP24A1 1 80214 1.24667E-5 40107 0 NA
20-52788226-A-G p.Ser3Pro missense CYP24A1 1 79630 1.25581E-5 39815 0 3.97788E-6
20-52788297-T-C c.-65A>G 5_prime_UTR_premature_start_codon_gain CYP24A1 1 67506 1.48135E-5 33753 0 NA
20-52788333-T-C c.-101A>G 5_prime_UTR_premature_start_codon_gain CYP24A1 2 61936 3.22914E-5 30968 0 NA
20-52788339-G-A c.-107C>T 5_prime_UTR_premature_start_codon_gain CYP24A1 1 61164 1.63495E-5 30582 0 NA
20-52788392-T-C c.-160A>G 5_prime_UTR_premature_start_codon_gain CYP24A1 1 49104 2.03649E-5 24552 0 NA
20-52788434-A-G c.-202T>C 5_prime_UTR_premature_start_codon_gain CYP24A1 3 30980 9.68367E-5 15490 0 NA
20-52788446-A-G c.-214T>C 5_prime_UTR_premature_start_codon_gain CYP24A1 525 27210 0.0192944 13605 0 0.012547
20-52788461-G-C c.-229C>G 5_prime_UTR_premature_start_codon_gain CYP24A1 3 22160 1.35379E-4 11080 0 NA
20-52789454-A-G p.Leu148Pro missense CYP24A1 13 82934 1.56751E-4 41467 0 1.59218E-4
20-52789458-G-A p.Leu147Leu synonymous CYP24A1 7 82928 8.44106E-5 41464 0 5.77053E-5
20-52789465-G-A p.Gly144Gly synonymous CYP24A1 1 83030 1.20438E-5 41515 0 3.98061E-6
20-52789466-CCTT-C p.Glu143del disruptive_inframe_deletion CYP24A1 96 83016 0.0011564 41508 0 0.0020141
20-52789467-C-T p.Gly144Ser missense CYP24A1 2 83038 2.40854E-5 41519 0 NA
20-52789468-TT-GC p.Glu143Gly missense CYP24A1 2 83048 2.40825E-5 41524 0 NA
20-52789472-T-C p.Lys142Arg missense CYP24A1 10 83070 1.2038E-4 41535 0 6.37146E-5
20-52789472-T-G p.Lys142Thr missense CYP24A1 1 83070 1.2038E-5 41535 0 NA
20-52789476-G-A p.Arg141Cys missense CYP24A1 4 83042 4.81684E-5 41521 0 3.18695E-5
20-52789492-C-T p.Lys135Lys synonymous CYP24A1 5 83122 6.01525E-5 41561 0 3.18532E-5
20-52789497-A-C p.Trp134Gly missense CYP24A1 11 83106 1.32361E-4 41553 0 1.5927E-5
20-52789507-C-G p.Glu130Asp missense CYP24A1 1 83126 1.20299E-5 41563 0 NA
20-52789511-A-C p.Leu129Arg missense CYP24A1 1 83124 1.20302E-5 41562 0 NA
20-52789512-G-T p.Leu129Met missense CYP24A1 21 83124 2.52635E-4 41562 0 6.37024E-4
20-52789514-C-A p.Arg128Leu missense CYP24A1 3 83116 3.60941E-5 41558 0 3.1872E-5
20-52789519-C-T p.Pro126Pro synonymous CYP24A1 19 83134 2.28547E-4 41567 0 6.6896E-4
20-52789521-G-A p.Pro126Ser missense CYP24A1 3 83142 3.60828E-5 41571 0 1.07174E-4
20-52789527-C-T p.Ala124Thr missense CYP24A1 1 83138 1.20282E-5 41569 0 5.77158E-5
20-52789528-G-A p.Ser123Ser synonymous CYP24A1 9 83136 1.08256E-4 41568 0 1.27421E-4
20-52789528-G-C p.Ser123Arg missense CYP24A1 2 83136 2.4057E-5 41568 0 NA
20-52789533-C-T p.Glu122Lys missense CYP24A1 1 83168 1.20239E-5 41584 0 5.03525E-4
20-52789534-G-C p.Thr121Thr synonymous CYP24A1 1 83164 1.20244E-5 41582 0 0.00125
20-52789538-C-A p.Arg120Leu missense CYP24A1 8 83142 9.62209E-5 41571 0 1.27405E-4
20-52789538-C-T p.Arg120His missense CYP24A1 7 83142 8.41933E-5 41571 0 0.0025
20-52789539-G-A p.Arg120Cys missense CYP24A1 1 83158 1.20253E-5 41579 0 NA
20-52789546-C-T p.Ala117Ala synonymous CYP24A1 18 83146 2.16487E-4 41573 0 9.89789E-5
20-52789547-G-T p.Ala117Glu missense CYP24A1 5 83144 6.01366E-5 41572 0 NA
20-52789562-G-C p.Pro112Arg missense CYP24A1 1 83164 1.20244E-5 41582 0 NA
20-52789563-G-T p.Pro112Thr missense CYP24A1 1 83152 1.20262E-5 41576 0 NA
20-52789577-A-G p.Val107Ala missense CYP24A1 4 83124 4.81209E-5 41562 0 3.30617E-5
20-52789580-G-A p.Ser106Leu missense CYP24A1 4 83120 4.81232E-5 41560 0 NA
20-52789584-C-G p.Glu105Gln missense CYP24A1 1 83160 1.2025E-5 41580 0 3.18492E-5
20-52789592-C-G p.Gly102Ala missense CYP24A1 10 83140 1.20279E-4 41570 0 9.30029E-5
20-52789601-A-G p.Met99Thr missense CYP24A1 14 83102 1.68468E-4 41551 0 0.00125
20-52789610-A-T p.Ile96Asn missense CYP24A1 2 83086 2.40714E-5 41543 0 1.30499E-4
20-52789639-C-T c.259-1G>A splice_acceptor CYP24A1 1 82686 1.20939E-5 41343 0 3.18613E-5
20-52789643-A-G c.259-5T>C splice_region CYP24A1 42 82476 5.09239E-4 41238 1 2.43643E-4
20-52789643-A-T c.259-5T>A splice_region CYP24A1 1 82478 1.21244E-5 41239 0 3.18654E-5
20-52789862-A-G p.Leu86Pro missense+splice_region CYP24A1 1 82026 1.21913E-5 41013 0 NA
20-52789869-C-T p.Asp84Asn missense CYP24A1 2 81958 2.44027E-5 40979 0 7.31618E-5
20-52789870-G-T p.His83Gln missense CYP24A1 1 81946 1.22032E-5 40973 0 4.19639E-6
20-52789874-T-C p.Gln82Arg missense CYP24A1 1 81966 1.22002E-5 40983 0 3.18552E-5
20-52789877-T-G p.Lys81Thr missense CYP24A1 1 81926 1.22061E-5 40963 0 NA
20-52789885-A-C p.Gly78Gly synonymous CYP24A1 1829 81780 0.0223649 40890 25 0.0275344
20-52789886-C-A p.Gly78Val missense CYP24A1 2 81864 2.44308E-5 40932 0 5.05561E-4
20-52789889-C-G p.Gly77Ala missense CYP24A1 5 81850 6.10874E-5 40925 0 NA
20-52789898-A-G p.Leu74Pro missense CYP24A1 1 81680 1.22429E-5 40840 0 NA
20-52789899-G-A p.Leu74Phe missense CYP24A1 1 81688 1.22417E-5 40844 0 1.44321E-5
20-52789902-T-A p.Ile73Phe missense CYP24A1 35 81616 4.28837E-4 40808 1 0.00125156
20-52789905-G-C p.Gln72Glu missense CYP24A1 1 81612 1.22531E-5 40806 0 3.18431E-5
20-52789921-C-T p.Leu66Leu synonymous CYP24A1 1 81390 1.22865E-5 40695 0 4.63469E-6
20-52789925-G-C p.Pro65Arg missense CYP24A1 1 81350 1.22926E-5 40675 0 NA
20-52789940-C-T p.Gly60Asp missense CYP24A1 12 81250 1.47692E-4 40625 0 3.56227E-5
20-52789942-C-T p.Pro59Pro synonymous CYP24A1 4 81272 4.92174E-5 40636 0 NA
20-52789943-G-A p.Pro59Leu missense CYP24A1 2 81264 2.46111E-5 40632 0 3.61354E-5
20-52789947-G-A p.Leu58Leu synonymous CYP24A1 7 81270 8.61326E-5 40635 0 1.89404E-4
20-52789969-G-A p.Gly50Gly synonymous CYP24A1 12 81154 1.47867E-4 40577 0 0.003125
20-52789970-C-T p.Gly50Asp missense CYP24A1 1 81206 1.23144E-5 40603 0 3.28515E-5
20-52789986-G-C p.Pro45Ala missense CYP24A1 1 81148 1.23232E-5 40574 0 NA
20-52789993-T-C p.Pro42Pro synonymous CYP24A1 3 81156 3.69658E-5 40578 0 3.65257E-5
20-52789998-C-T p.Val41Met missense CYP24A1 1 81138 1.23247E-5 40569 0 3.74308E-5
20-52789999-C-T p.Glu40Glu synonymous CYP24A1 1 81138 1.23247E-5 40569 0 NA
20-52790000-T-C p.Glu40Gly missense CYP24A1 1 81156 1.23219E-5 40578 0 5.71592E-6
20-52790005-C-A p.Pro38Pro synonymous CYP24A1 1780 81054 0.0219607 40527 25 0.0275
20-52790005-C-T p.Pro38Pro synonymous CYP24A1 2 81098 2.46615E-5 40549 0 3.1902E-5
20-52790018-G-A p.Thr34Met missense CYP24A1 10 81062 1.23362E-4 40531 0 1.93483E-4
20-52790018-G-C p.Thr34Arg missense CYP24A1 1 81062 1.23362E-5 40531 0 3.86967E-5
20-52790026-C-T p.Thr31Thr synonymous CYP24A1 26 80998 3.20996E-4 40499 0 6.16618E-4
20-52790026-C-A p.Thr31Thr synonymous CYP24A1 1 80998 1.2346E-5 40499 0 6.25E-4
20-52790041-T-G p.Arg26Ser missense CYP24A1 3 80948 3.70608E-5 40474 0 1.13809E-4
20-52790044-C-CG p.Arg26fs frameshift CYP24A1 1 80926 1.2357E-5 40463 0 3.19081E-5
20-52790046-G-C p.Pro25Ala missense CYP24A1 3 80946 3.70617E-5 40473 0 0.00101729
20-52790049-G-A p.Pro24Ser missense CYP24A1 1 80866 1.23661E-5 40433 0 3.18776E-5
20-52790056-CG-C p.Pro21fs frameshift CYP24A1 9 80748 1.11458E-4 40374 0 6.37959E-5
20-52790057-G-A p.Pro21Leu missense CYP24A1 1 80730 1.2387E-5 40365 0 NA
20-52790063-C-T p.Arg19His missense CYP24A1 1 80574 1.2411E-5 40287 0 1.03001E-5
20-52790067-G-A p.Leu18Leu synonymous CYP24A1 1 80546 1.24153E-5 40273 0 NA
20-52790082-C-T p.Ala13Thr missense CYP24A1 3 80074 3.74653E-5 40037 0 2.54972E-4
20-52790083-G-T p.Ala12Ala synonymous CYP24A1 5 80062 6.24516E-5 40031 0 2.94487E-5
20-52790096-C-A p.Ser8Ile missense CYP24A1 1 79368 1.25995E-5 39684 0 2.66681E-5
20-52790097-T-C p.Ser8Gly missense CYP24A1 1 79298 1.26107E-5 39649 0 1.85824E-4
20-52790099-T-C p.Lys7Arg missense CYP24A1 1 79214 1.2624E-5 39607 0 NA
20-52790116-C-A p.Met1? start_lost CYP24A1 4 77678 5.14946E-5 38839 0 6.37674E-5
20-52790134-C-A c.-16G>T 5_prime_UTR_premature_start_codon_gain CYP24A1 1 74898 1.33515E-5 37449 0 NA
20-52790135-G-A c.-17C>T 5_prime_UTR_premature_start_codon_gain CYP24A1 2 75100 2.66312E-5 37550 0 NA
20-52790249-G-C c.-131C>G 5_prime_UTR_premature_start_codon_gain CYP24A1 2 38384 5.2105E-5 19192 0 1.59357E-4
20-52790253-G-A c.-135C>T 5_prime_UTR_premature_start_codon_gain CYP24A1 2 36732 5.44484E-5 18366 0 2.23129E-4