Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-24241838-A-G c.-180A>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 46522 2.14952E-5 23261 0 NA
8-24241864-A-T c.-154A>T 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 60196 1.66124E-5 30098 0 NA
8-24241887-T-G c.-131T>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 66900 1.49477E-5 33450 0 NA
8-24241931-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 75950 1.31666E-5 37975 0 6.25E-4
8-24241937-G-A c.-81G>A 5_prime_UTR_premature_start_codon_gain ADAMDEC1 3 76664 3.91318E-5 38332 0 NA
8-24242024-C-T p.Arg3Cys missense ADAMDEC1 1 80024 1.24963E-5 40012 0 1.24061E-5
8-24242027-G-A p.Gly4Arg missense ADAMDEC1 2 80070 2.49781E-5 40035 0 4.11347E-6
8-24242028-G-A p.Gly4Glu missense ADAMDEC1 3 80070 3.74672E-5 40035 0 3.36255E-5
8-24242029-G-T p.Gly4Gly synonymous ADAMDEC1 2 80090 2.49719E-5 40045 0 3.1839E-5
8-24242031-T-C p.Ile5Thr missense ADAMDEC1 4 80110 4.99313E-5 40055 0 4.39174E-5
8-24242031-T-G p.Ile5Ser missense ADAMDEC1 1 80110 1.24828E-5 40055 0 1.09794E-5
8-24242032-C-T p.Ile5Ile synonymous ADAMDEC1 2 80136 2.49576E-5 40068 0 NA
8-24242049-T-G p.Val11Gly missense ADAMDEC1 4 80282 4.98244E-5 40141 0 3.18471E-5
8-24242049-T-C p.Val11Ala missense ADAMDEC1 1 80282 1.24561E-5 40141 0 NA
8-24242054-A-G p.Thr13Ala missense ADAMDEC1 2 80294 2.49085E-5 40147 0 0.0015121
8-24242068-C-T p.Val17Val synonymous ADAMDEC1 1 80308 1.24521E-5 40154 0 3.18471E-5
8-24242084-T-C p.Trp23Arg missense ADAMDEC1 1 80230 1.24642E-5 40115 0 NA
8-24242087-C-T p.Leu24Phe missense ADAMDEC1 1 80212 1.2467E-5 40106 0 NA
8-24242089-C-G c.-47C>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 80166 1.24741E-5 40083 0 NA
8-24242098-A-G p.Gln27Gln synonymous ADAMDEC1 1 80094 1.24853E-5 40047 0 NA
8-24242105-GGTAC-G c.88+1_88+4delGTAC splice_donor ADAMDEC1 2 80022 2.49931E-5 40011 0 6.37308E-5
8-24242109-C-T c.88+4C>T splice_region ADAMDEC1 1 79862 1.25216E-5 39931 0 3.18552E-5
8-24242110-G-A c.88+5G>A splice_region ADAMDEC1 2 79838 2.50507E-5 39919 0 8.43419E-6
8-24247643-C-T p.Ala30Ala splice_region+synonymous ADAMDEC1 2 24026 8.32432E-5 12013 0 0.00448263
8-24247654-C-T p.Ala34Val missense ADAMDEC1 1 24574 4.06934E-5 12287 0 9.56145E-5
8-24247655-G-A c.-226G>A 5_prime_UTR_premature_start_codon_gain ADAMDEC1 2 24644 8.11557E-5 12322 0 9.55718E-5
8-24247669-G-C p.Ser39Thr missense ADAMDEC1 1 26200 3.81679E-5 13100 0 7.88569E-6
8-24247674-C-T p.Gln41* stop_gained ADAMDEC1 1 26852 3.72412E-5 13426 0 0.00112275
8-24247700-T-G c.-181T>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 2 28688 6.97156E-5 14344 0 2.79397E-4
8-24247722-A-G c.-159A>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 29106 3.43572E-5 14553 0 1.66667E-5
8-24247732-G-GT c.*52+1_*52+2insT splice_donor ADAMDEC1 1 29020 3.4459E-5 14510 0 NA
8-24247733-T-C c.*52+2T>C splice_donor ADAMDEC1 1 29088 3.43784E-5 14544 0 3.18512E-5
8-24249777-A-G p.Ile31Val missense+splice_region ADAMDEC1 1 79994 1.25009E-5 39997 0 1.67112E-5
8-24249778-T-A p.Ile31Lys missense ADAMDEC1 2 80002 2.49994E-5 40001 0 2.50501E-5
8-24249781-C-T p.Ala32Val missense ADAMDEC1 1 80080 1.24875E-5 40040 0 NA
8-24249805-C-T p.Thr40Met missense ADAMDEC1 161 80276 0.00200558 40138 0 0.00404536
8-24249806-G-A p.Thr40Thr synonymous ADAMDEC1 1 80264 1.24589E-5 40132 0 6.62899E-5
8-24249817-T-G p.Ile44Arg missense ADAMDEC1 252 80332 0.00313698 40166 3 0.00484076
8-24249833-A-T p.Lys49Asn missense ADAMDEC1 2 80406 2.48738E-5 40203 0 NA
8-24249839-C-T p.His51His synonymous ADAMDEC1 1 80432 1.24329E-5 40216 0 4.13777E-5
8-24249868-A-C p.Asn61Thr missense ADAMDEC1 1 80480 1.24254E-5 40240 0 2.48505E-5
8-24249875-A-G p.Thr63Thr synonymous ADAMDEC1 4 80460 4.97141E-5 40230 0 1.27356E-4
8-24250767-G-T c.208-8G>T splice_region ADAMDEC1 6 77262 7.76578E-5 38631 0 5.1428E-5
8-24250780-G-A p.Arg71Arg synonymous ADAMDEC1 3 78162 3.83818E-5 39081 0 6.68282E-5
8-24250786-A-G p.Glu73Glu synonymous ADAMDEC1 1 78358 1.27619E-5 39179 0 1.66592E-5
8-24250787-C-A p.Pro74Thr missense ADAMDEC1 2 78300 2.55428E-5 39150 0 8.32639E-6
8-24250797-A-G p.Gln77Arg missense ADAMDEC1 4 78572 5.09087E-5 39286 0 4.15524E-5
8-24250802-C-T p.Gln79* stop_gained ADAMDEC1 2 78634 2.54343E-5 39317 0 2.49207E-5
8-24250809-T-C p.Ile81Thr missense ADAMDEC1 883 78666 0.0112247 39333 33 0.0234226
8-24250823-G-T p.Glu86* stop_gained ADAMDEC1 1 78572 1.27272E-5 39286 0 6.25E-4
8-24250832-C-G p.Leu89Val missense ADAMDEC1 868 78402 0.0110711 39201 1 0.017522
8-24250834-C-A p.Leu89Leu synonymous ADAMDEC1 1 78496 1.27395E-5 39248 0 NA
8-24250840-A-G p.Leu91Leu synonymous ADAMDEC1 3 78384 3.82731E-5 39192 0 NA
8-24250841-C-T p.Gln92* stop_gained ADAMDEC1 1 78370 1.276E-5 39185 0 3.32419E-5
8-24250858-T-G c.284+7T>G splice_region ADAMDEC1 1 77770 1.28584E-5 38885 0 NA
8-24251578-A-G c.285-4A>G splice_region ADAMDEC1 1 79354 1.26018E-5 39677 0 8.30248E-6
8-24251583-C-A p.His96Asn missense+splice_region ADAMDEC1 2 79482 2.51629E-5 39741 0 9.57717E-5
8-24251585-C-T p.His96His synonymous ADAMDEC1 2 79530 2.51477E-5 39765 0 7.97989E-6
8-24251585-C-A p.His96Gln missense ADAMDEC1 1 79530 1.25739E-5 39765 0 NA
8-24251587-T-G p.Leu97Arg missense ADAMDEC1 2 79548 2.51421E-5 39774 0 NA
8-24251594-G-A p.Gly99Gly synonymous ADAMDEC1 1 79668 1.25521E-5 39834 0 3.56356E-4
8-24251599-A-C p.Asp101Ala missense ADAMDEC1 15 79694 1.8822E-4 39847 0 0.001875
8-24251605-C-T p.Thr103Ile missense ADAMDEC1 1 79764 1.2537E-5 39882 0 8.28308E-6
8-24251614-T-C p.Leu106Ser missense ADAMDEC1 1 79788 1.25332E-5 39894 0 5.97786E-5
8-24251623-C-T p.Pro109Leu missense ADAMDEC1 1 79774 1.25354E-5 39887 0 3.98559E-6
8-24251644-C-T p.Thr116Met missense ADAMDEC1 11 79616 1.38163E-4 39808 0 0.00103822
8-24251658-A-G p.Met121Val missense+splice_region ADAMDEC1 1 79456 1.25856E-5 39728 0 NA
8-24251659-T-C p.Met121Thr missense+splice_region ADAMDEC1 981 79394 0.0123561 39697 37 0.0255447
8-24253237-A-T p.His123Leu missense ADAMDEC1 1 79888 1.25175E-5 39944 0 NA
8-24253246-A-G p.Tyr126Cys missense ADAMDEC1 3 80024 3.74888E-5 40012 0 1.99494E-5
8-24253260-C-G p.Leu131Val missense ADAMDEC1 1 80166 1.24741E-5 40083 0 NA
8-24253271-G-T p.Lys134Asn missense ADAMDEC1 1 80222 1.24654E-5 40111 0 3.98708E-6
8-24253290-A-G p.Ser141Gly missense ADAMDEC1 20 80190 2.49408E-4 40095 0 2.23259E-4
8-24253299-G-A p.Asp144Asn missense ADAMDEC1 2 80146 2.49545E-5 40073 0 2.39303E-5
8-24253301-C-T p.Asp144Asp synonymous ADAMDEC1 3 80108 3.74494E-5 40054 0 1.65667E-5
8-24253302-G-A p.Gly145Arg missense ADAMDEC1 1 80084 1.24869E-5 40042 0 1.1972E-5
8-24253307-G-A p.Leu146Leu splice_region+synonymous ADAMDEC1 1 80046 1.24928E-5 40023 0 8.28816E-6
8-24253310-G-A c.440+1G>A splice_donor ADAMDEC1 1 79964 1.25056E-5 39982 0 3.99425E-6
8-24254778-C-T c.441-5C>T splice_region ADAMDEC1 1 80264 1.24589E-5 40132 0 8.09684E-6
8-24254779-C-A c.441-4C>A splice_region ADAMDEC1 1 80276 1.2457E-5 40138 0 NA
8-24254789-C-G p.Tyr149* stop_gained ADAMDEC1 1 80340 1.24471E-5 40170 0 NA
8-24254790-T-G p.Phe150Val missense ADAMDEC1 3 80350 3.73367E-5 40175 0 NA
8-24254800-A-T p.His153Leu missense ADAMDEC1 1 80392 1.2439E-5 40196 0 NA
8-24254813-C-A p.Tyr157* stop_gained ADAMDEC1 1 80444 1.2431E-5 40222 0 NA
8-24254818-T-C p.Ile159Thr missense ADAMDEC1 1 80462 1.24282E-5 40231 0 2.79247E-5
8-24254829-A-G p.Lys163Glu missense ADAMDEC1 4 80466 4.97104E-5 40233 0 6.25E-4
8-24254840-C-T p.Asp166Asp synonymous ADAMDEC1 5 80472 6.21334E-5 40236 0 2.15268E-4
8-24254841-G-A p.Glu167Lys missense ADAMDEC1 1 80476 1.24261E-5 40238 0 1.65254E-5
8-24254847-G-A p.Glu169Lys missense ADAMDEC1 1 80500 1.24224E-5 40250 0 1.27564E-4
8-24254855-C-T p.Ala171Ala synonymous ADAMDEC1 10 80474 1.24264E-4 40237 0 1.91095E-4
8-24254856-G-T p.Val172Phe missense ADAMDEC1 8 80480 9.94036E-5 40240 0 9.96691E-5
8-24254856-G-A p.Val172Ile missense ADAMDEC1 4 80480 4.97018E-5 40240 0 7.43777E-5
8-24254880-C-A p.Gln180Lys missense ADAMDEC1 1 80462 1.24282E-5 40231 0 1.65407E-5
8-24254887-C-T p.Pro182Leu missense ADAMDEC1 1 80456 1.24292E-5 40228 0 4.96303E-5
8-24254917-C-T p.Thr192Ile missense ADAMDEC1 1 80344 1.24465E-5 40172 0 2.48451E-5
8-24254921-C-T p.Asp193Asp synonymous ADAMDEC1 6 80320 7.47012E-5 40160 0 9.55536E-5
8-24254922-G-A p.Gly194Arg missense ADAMDEC1 2 80310 2.49035E-5 40155 0 3.18532E-4
8-24254933-C-T p.Gly197Gly synonymous ADAMDEC1 3 80246 3.7385E-5 40123 0 3.59416E-5
8-24254941-G-A p.Arg200Gln missense ADAMDEC1 4 80176 4.98902E-5 40088 0 3.19714E-5
8-24254942-AATCTCTAG-A p.Ser202fs frameshift ADAMDEC1 4 80176 4.98902E-5 40088 0 5.80595E-5
8-24254959-A-G p.Lys206Arg missense ADAMDEC1 1 80012 1.24981E-5 40006 0 1.66016E-5
8-24254963-C-T p.Ser207Ser synonymous ADAMDEC1 1 79960 1.25063E-5 39980 0 NA
8-24254967-G-A p.Glu209Lys missense+splice_region ADAMDEC1 1 79902 1.25153E-5 39951 0 3.18552E-5
8-24254974-A-G c.627+5A>G splice_region ADAMDEC1 1 79810 1.25298E-5 39905 0 NA
8-24255189-T-C c.628-7T>C splice_region ADAMDEC1 1 79794 1.25323E-5 39897 0 NA
8-24255196-AAAG-A p.Glu211del disruptive_inframe_deletion ADAMDEC1 3 79860 3.75657E-5 39930 0 4.17509E-5
8-24255202-G-A p.Asp212Asn missense ADAMDEC1 3 79872 3.75601E-5 39936 0 NA
8-24255202-G-C p.Asp212His missense ADAMDEC1 1 79872 1.252E-5 39936 0 1.66597E-5
8-24255211-C-T p.Arg215Trp missense ADAMDEC1 6 79920 7.50751E-5 39960 0 0.001875
8-24255211-C-G p.Arg215Gly missense ADAMDEC1 1 79920 1.25125E-5 39960 0 NA
8-24255266-T-C c.690+8T>C splice_region ADAMDEC1 1 79918 1.25128E-5 39959 0 3.18573E-5
8-24256004-T-G p.Tyr234* stop_gained ADAMDEC1 1 79166 1.26317E-5 39583 0 NA
8-24256007-T-A p.Asn235Lys missense ADAMDEC1 73 79280 9.20787E-4 39640 0 0.00352467
8-24256014-C-T p.Leu238Leu synonymous ADAMDEC1 1 79424 1.25907E-5 39712 0 4.05722E-6
8-24256024-T-A p.Ile241Lys missense ADAMDEC1 3 79548 3.77131E-5 39774 0 NA
8-24256031-C-G p.Ser243Arg missense ADAMDEC1 1 79592 1.25641E-5 39796 0 NA
8-24256044-G-A p.Val248Met missense ADAMDEC1 2 79612 2.51218E-5 39806 0 1.33626E-4
8-24256052-C-T p.Asn250Asn synonymous ADAMDEC1 2968 79388 0.037386 39694 120 0.0616617
8-24256389-A-T p.Ile255Ile splice_region+synonymous ADAMDEC1 696 80046 0.008695 40023 16 0.0175467
8-24256390-T-C p.Tyr256His missense ADAMDEC1 2 80076 2.49763E-5 40038 0 0.00100806
8-24256391-A-G p.Tyr256Cys missense ADAMDEC1 2 80100 2.49688E-5 40050 0 0.00100806
8-24256405-G-A p.Val261Ile missense ADAMDEC1 1 80186 1.2471E-5 40093 0 7.98231E-6
8-24256427-T-C p.Met268Thr missense ADAMDEC1 2 80300 2.49066E-5 40150 0 3.98702E-6
8-24256429-G-A p.Glu269Lys missense ADAMDEC1 1 80312 1.24514E-5 40156 0 NA
8-24256446-G-C p.Gly274Gly synonymous ADAMDEC1 1 80408 1.24366E-5 40204 0 8.25137E-6
8-24256457-A-T p.Lys278Met missense ADAMDEC1 1 80394 1.24387E-5 40197 0 3.18532E-5
8-24256463-T-C p.Val280Ala missense ADAMDEC1 4 80372 4.97686E-5 40186 0 2.54874E-4
8-24256465-C-T p.Pro281Ser missense ADAMDEC1 2 80378 2.48824E-5 40189 0 6.37928E-5
8-24256470-C-T p.Ser282Ser synonymous ADAMDEC1 31269 80072 0.390511 40036 6473 0.41375
8-24256471-G-A p.Ala283Thr missense ADAMDEC1 2 80362 2.48874E-5 40181 0 NA
8-24256482-G-A p.Thr286Thr synonymous ADAMDEC1 9 80374 1.11977E-4 40187 0 5.41401E-4
8-24256483-T-G p.Phe287Val missense ADAMDEC1 1 80376 1.24415E-5 40188 0 NA
8-24256490-A-G p.Asn289Ser missense ADAMDEC1 3 80370 3.73274E-5 40185 0 3.58935E-5
8-24256506-C-A p.His294Gln missense ADAMDEC1 7 80360 8.7108E-5 40180 0 4.39122E-5
8-24256512-T-C p.Ser296Ser synonymous ADAMDEC1 710 80312 0.00884052 40156 18 0.0174952
8-24256517-T-C p.Leu298Pro missense ADAMDEC1 1 80328 1.2449E-5 40164 0 3.18532E-5
8-24256517-TG-T p.Lys301fs frameshift ADAMDEC1 1 80328 1.2449E-5 40164 0 NA
8-24256519-G-C p.Gly299Arg missense ADAMDEC1 6 80330 7.46919E-5 40165 0 NA
8-24256523-A-G p.Lys300Arg missense ADAMDEC1 1 80320 1.24502E-5 40160 0 8.28295E-5
8-24256527-G-C p.Lys301Asn missense ADAMDEC1 3 80298 3.73608E-5 40149 0 NA
8-24256531-C-T p.His303Tyr missense ADAMDEC1 6 80286 7.47328E-5 40143 0 4.80157E-5
8-24256533-C-T p.His303His synonymous ADAMDEC1 7 80262 8.72144E-5 40131 0 0.00204708
8-24256535-A-G p.Asp304Gly missense ADAMDEC1 4 80234 4.98542E-5 40117 0 6.25E-4
8-24256538-A-T p.His305Leu missense ADAMDEC1 2 80258 2.49196E-5 40129 0 NA
8-24256546-C-T p.Leu308Phe missense ADAMDEC1 1 80212 1.2467E-5 40106 0 NA
8-24256548-T-C p.Leu308Leu synonymous ADAMDEC1 1 80202 1.24685E-5 40101 0 NA
8-24256558-G-C c.929+5G>C splice_region ADAMDEC1 1 80138 1.24785E-5 40069 0 NA
8-24256898-T-C c.930-8T>C splice_region ADAMDEC1 1 80776 1.23799E-5 40388 0 NA
8-24256902-A-G c.930-4A>G splice_region ADAMDEC1 6 80804 7.42538E-5 40402 0 5.17425E-5
8-24256928-C-T p.Arg318Cys missense ADAMDEC1 3 80880 3.7092E-5 40440 0 7.95792E-6
8-24256929-G-T p.Arg318Leu missense ADAMDEC1 1 80898 1.23612E-5 40449 0 NA
8-24256929-G-A p.Arg318His missense ADAMDEC1 2 80898 2.47225E-5 40449 0 4.94535E-5
8-24256930-T-C p.Arg318Arg synonymous ADAMDEC1 228 80896 0.00281843 40448 1 0.0026118
8-24256950-A-G p.Asn325Ser missense ADAMDEC1 1 80920 1.23579E-5 40460 0 NA
8-24256953-C-T p.Ser326Phe missense ADAMDEC1 1 80910 1.23594E-5 40455 0 NA
8-24256953-C-G p.Ser326Cys missense ADAMDEC1 2 80910 2.47188E-5 40455 0 3.18492E-5
8-24256968-C-T p.Ser331Phe missense ADAMDEC1 6 80870 7.41932E-5 40435 0 1.64891E-5
8-24256969-T-C p.Ser331Ser synonymous ADAMDEC1 1 80864 1.23664E-5 40432 0 8.24498E-6
8-24256971-C-T p.Ser332Leu missense ADAMDEC1 2 80842 2.47396E-5 40421 0 2.78485E-5
8-24256972-G-A p.Ser332Ser synonymous ADAMDEC1 2 80834 2.47421E-5 40417 0 3.18756E-5
8-24257676-T-C c.1012-7T>C splice_region ADAMDEC1 1 79492 1.25799E-5 39746 0 NA
8-24257678-T-C c.1012-5T>C splice_region ADAMDEC1 3 79548 3.77131E-5 39774 0 4.59918E-5
8-24257679-C-G c.1012-4C>G splice_region ADAMDEC1 3 79566 3.77045E-5 39783 0 NA
8-24257685-TA-T p.Lys341fs frameshift ADAMDEC1 1 79716 1.25445E-5 39858 0 1.70184E-4
8-24257687-A-G p.Lys339Arg missense ADAMDEC1 1 79850 1.25235E-5 39925 0 NA
8-24257690-A-G p.Lys340Arg missense ADAMDEC1 1 79898 1.2516E-5 39949 0 NA
8-24257705-C-T p.Ala345Val missense ADAMDEC1 1 80180 1.24719E-5 40090 0 1.27516E-5
8-24257709-T-G p.Leu346Leu synonymous ADAMDEC1 48 80384 5.97134E-4 40192 0 0.004375
8-24257731-C-G p.Leu354Val missense ADAMDEC1 1 80630 1.24023E-5 40315 0 NA
8-24257738-A-T p.His356Leu missense ADAMDEC1 1 80664 1.23971E-5 40332 0 8.34543E-6
8-24257744-T-G p.Leu358Arg missense ADAMDEC1 1 80698 1.23919E-5 40349 0 NA
8-24257750-T-C p.Met360Thr missense ADAMDEC1 1 80684 1.2394E-5 40342 0 NA
8-24257760-T-A p.Val363Val synonymous ADAMDEC1 1 80692 1.23928E-5 40346 0 NA
8-24257768-A-T p.Asn366Ile missense ADAMDEC1 5 80698 6.19594E-5 40349 0 1.27405E-4
8-24257771-CCA-C p.Lys368fs frameshift ADAMDEC1 1 80688 1.23934E-5 40344 0 8.27513E-6
8-24257777-G-A p.Cys369Tyr missense ADAMDEC1 8 80670 9.91695E-5 40335 0 3.18654E-5
8-24257787-C-T p.Gly372Gly synonymous ADAMDEC1 1 80636 1.24014E-5 40318 0 NA
8-24257789-G-C p.Ser373Thr missense ADAMDEC1 1 80620 1.24039E-5 40310 0 4.01352E-6
8-24257792-G-T p.Cys374Phe missense ADAMDEC1 1 80604 1.24063E-5 40302 0 NA
8-24257805-G-A p.Gln378Gln synonymous ADAMDEC1 4 80574 4.96438E-5 40287 0 6.25E-4
8-24257820-C-A c.1142+7C>A splice_region ADAMDEC1 2 80314 2.49023E-5 40157 0 4.96862E-5
8-24259427-G-A c.1143-1G>A splice_acceptor ADAMDEC1 1 79790 1.25329E-5 39895 0 8.5454E-6
8-24259454-C-T p.Thr390Ile missense ADAMDEC1 2 80052 2.49838E-5 40026 0 1.66694E-5
8-24259462-C-T p.Arg393Cys missense ADAMDEC1 3 80096 3.74551E-5 40048 0 3.18552E-5
8-24259471-T-C p.Phe396Leu missense ADAMDEC1 1 80180 1.24719E-5 40090 0 NA
8-24259479-A-C p.Arg398Ser missense ADAMDEC1 1 80218 1.2466E-5 40109 0 1.65607E-5
8-24259482-C-T p.Tyr399Tyr synonymous ADAMDEC1 16 80244 1.99392E-4 40122 0 3.18573E-5
8-24259482-C-A p.Tyr399* stop_gained ADAMDEC1 2 80244 2.4924E-5 40122 0 3.18573E-5
8-24259499-CA-C p.Lys406fs frameshift ADAMDEC1 1 80310 1.24517E-5 40155 0 NA
8-24259507-C-T p.Leu408Leu synonymous ADAMDEC1 3 80334 3.73441E-5 40167 0 4.78763E-5
8-24259508-T-C p.Leu408Pro missense ADAMDEC1 2 80330 2.48973E-5 40165 0 7.97849E-6
8-24259516-G-T p.Ala411Ser missense ADAMDEC1 2 80356 2.48892E-5 40178 0 NA
8-24259521-T-C p.Pro412Pro synonymous ADAMDEC1 2 80368 2.48855E-5 40184 0 NA
8-24259522-A-G p.Ile413Val missense ADAMDEC1 6 80378 7.46473E-5 40189 0 2.89132E-4
8-24259541-C-T p.Thr419Ile missense ADAMDEC1 1 80392 1.2439E-5 40196 0 NA
8-24259546-C-T p.Pro421Ser missense ADAMDEC1 269 80392 0.0033461 40196 1 0.00340333
8-24259559-A-T p.Asn425Ile missense ADAMDEC1 9 80388 1.11957E-4 40194 0 1.15651E-4
8-24259564-C-T p.Leu427Phe missense ADAMDEC1 1 80382 1.24406E-5 40191 0 NA
8-24259583-A-G p.Asp433Gly missense ADAMDEC1 1 80354 1.24449E-5 40177 0 NA
8-24259600-C-T p.Pro439Ser missense ADAMDEC1 600 80266 0.00747515 40133 11 0.0145578
8-24259606-G-T c.1320+1G>T splice_donor ADAMDEC1 1 80206 1.24679E-5 40103 0 NA
8-24261517-AGT-A p.Cys442fs frameshift ADAMDEC1 1 80782 1.2379E-5 40391 0 NA
8-24261518-G-A p.Glu441Glu splice_region+synonymous ADAMDEC1 707 80782 0.00875195 40391 18 0.0173689
8-24261526-A-G p.Asn444Ser missense ADAMDEC1 31715 80524 0.393858 40262 6609 0.416875
8-24261526-A-T p.Asn444Ile missense ADAMDEC1 1 80806 1.23753E-5 40403 0 8.26884E-6
8-24261536-T-A p.Cys447* stop_gained ADAMDEC1 1 80836 1.23707E-5 40418 0 NA
8-24261547-C-T p.Thr451Met missense ADAMDEC1 538 80860 0.00665348 40430 4 0.00879597
8-24261565-G-C p.Gly457Ala missense ADAMDEC1 1 80870 1.23655E-5 40435 0 NA
8-24261575-CGGA-C p.Gly462del disruptive_inframe_deletion ADAMDEC1 1 80820 1.23732E-5 40410 0 NA
8-24261575-C-T p.Cys460Cys synonymous ADAMDEC1 2 80820 2.47464E-5 40410 0 1.5941E-5
8-24261576-G-A p.Gly461Arg missense ADAMDEC1 8 80818 9.89878E-5 40409 0 1.27437E-4
8-24261601-C-A p.Thr469Lys missense+splice_region ADAMDEC1 2 80650 2.47985E-5 40325 0 1.20414E-5
8-24261602-G-C c.1406+1G>C splice_donor ADAMDEC1 3 80626 3.72088E-5 40313 0 NA
8-24261602-G-A c.1406+1G>A splice_donor ADAMDEC1 4 80624 4.9613E-5 40312 0 6.37105E-5
8-24261604-A-G c.1406+3A>G splice_region ADAMDEC1 1 80624 1.24033E-5 40312 0 8.44081E-6
8-24261608-C-A c.1406+7C>A splice_region ADAMDEC1 1 80572 1.24113E-5 40286 0 NA
8-24262800-A-G c.1407-5A>G splice_region ADAMDEC1 20 80176 2.49451E-4 40088 0 5.42023E-4
8-24262804-G-A c.1407-1G>A splice_acceptor ADAMDEC1 11 80208 1.37143E-4 40104 0 3.50832E-4
8-24262959-T-A n.153+2T>A splice_donor ADAMDEC1 1 73602 1.35866E-5 36801 0 NA
8-24263033-C-CT n.154-5dupT splice_region ADAMDEC1 9 49726 1.80992E-4 24863 0 1.8997E-4
8-24263033-CT-C n.154-5delT splice_region ADAMDEC1 1 49728 2.01094E-5 24864 0 NA
8-24263046-G-C n.154-1G>C splice_acceptor ADAMDEC1 2 44788 4.46548E-5 22394 0 NA