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Gene: ADAMDEC1

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


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 46622 2.14491E-5 23311 0 NA
8-24241864-A-T c.-154A>T 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 60668 1.64832E-5 30334 0 NA
8-24241887-T-G c.-131T>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 67800 1.47493E-5 33900 0 NA
8-24241931-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 77788 1.28555E-5 38894 0 6.25E-4
8-24241937-G-A c.-81G>A 5_prime_UTR_premature_start_codon_gain ADAMDEC1 3 78574 3.81806E-5 39287 0 NA
8-24242018-A-T c.-118A>T 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 82220 1.21625E-5 41110 0 5.04032E-4
8-24242024-C-T p.Arg3Cys missense ADAMDEC1 1 82292 1.21518E-5 41146 0 1.24061E-5
8-24242027-G-A p.Gly4Arg missense ADAMDEC1 2 82342 2.42889E-5 41171 0 4.11347E-6
8-24242028-G-A p.Gly4Glu missense ADAMDEC1 2 82346 2.42878E-5 41173 0 3.36255E-5
8-24242029-G-T p.Gly4Gly synonymous ADAMDEC1 2 82368 2.42813E-5 41184 0 3.1839E-5
8-24242031-T-C p.Ile5Thr missense ADAMDEC1 4 82392 4.85484E-5 41196 0 4.39174E-5
8-24242031-T-G p.Ile5Ser missense ADAMDEC1 1 82392 1.21371E-5 41196 0 1.09794E-5
8-24242032-C-T p.Ile5Ile synonymous ADAMDEC1 2 82418 2.42665E-5 41209 0 NA
8-24242049-T-G p.Val11Gly missense ADAMDEC1 4 82582 4.84367E-5 41291 0 3.18471E-5
8-24242049-T-C p.Val11Ala missense ADAMDEC1 1 82582 1.21092E-5 41291 0 NA
8-24242054-A-G p.Thr13Ala missense ADAMDEC1 2 82594 2.42148E-5 41297 0 0.0015121
8-24242068-C-T p.Val17Val synonymous ADAMDEC1 1 82610 1.21051E-5 41305 0 3.18471E-5
8-24242084-T-C p.Trp23Arg missense ADAMDEC1 1 82530 1.21168E-5 41265 0 NA
8-24242087-C-T p.Leu24Phe missense ADAMDEC1 1 82512 1.21194E-5 41256 0 NA
8-24242089-C-G c.-47C>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 82464 1.21265E-5 41232 0 NA
8-24242097-A-G p.Gln27Arg missense ADAMDEC1 1 82406 1.2135E-5 41203 0 NA
8-24242098-A-G p.Gln27Gln synonymous ADAMDEC1 1 82390 1.21374E-5 41195 0 NA
8-24242105-GGTAC-G c.88+1_88+4delGTAC splice_donor ADAMDEC1 2 82318 2.4296E-5 41159 0 6.37308E-5
8-24242109-C-T c.88+4C>T splice_region ADAMDEC1 1 82158 1.21717E-5 41079 0 3.18552E-5
8-24242110-G-A c.88+5G>A splice_region ADAMDEC1 2 82134 2.43505E-5 41067 0 8.43419E-6
8-24247643-C-T p.Ala30Ala splice_region+synonymous ADAMDEC1 2 24496 8.1646E-5 12248 0 0.00448263
8-24247654-C-T p.Ala34Val missense ADAMDEC1 1 25112 3.98216E-5 12556 0 9.56145E-5
8-24247655-G-A c.-226G>A 5_prime_UTR_premature_start_codon_gain ADAMDEC1 2 25154 7.95102E-5 12577 0 9.55718E-5
8-24247669-G-C p.Ser39Thr missense ADAMDEC1 1 27044 3.69768E-5 13522 0 7.88569E-6
8-24247674-C-T p.Gln41* stop_gained ADAMDEC1 1 27878 3.58706E-5 13939 0 0.00112275
8-24247700-T-G c.-181T>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 2 30158 6.63174E-5 15079 0 2.79397E-4
8-24247722-A-G c.-159A>G 5_prime_UTR_premature_start_codon_gain ADAMDEC1 1 30686 3.25882E-5 15343 0 1.66667E-5
8-24247732-G-GT c.*52+1_*52+2insT splice_donor ADAMDEC1 1 30622 3.26563E-5 15311 0 NA
8-24247733-T-C c.*52+2T>C splice_donor ADAMDEC1 1 30690 3.25839E-5 15345 0 3.18512E-5
8-24249777-A-G p.Ile31Val missense+splice_region ADAMDEC1 1 82304 1.21501E-5 41152 0 1.67112E-5
8-24249778-T-A p.Ile31Lys missense ADAMDEC1 2 82312 2.42978E-5 41156 0 2.50501E-5
8-24249781-C-T p.Ala32Val missense ADAMDEC1 1 82392 1.21371E-5 41196 0 NA
8-24249805-C-T p.Thr40Met missense ADAMDEC1 165 82598 0.00199763 41299 0 0.00404536
8-24249806-G-A p.Thr40Thr synonymous ADAMDEC1 1 82586 1.21086E-5 41293 0 6.62899E-5
8-24249817-T-G p.Ile44Arg missense ADAMDEC1 255 82650 0.0030853 41325 3 0.00484076
8-24249833-A-T p.Lys49Asn missense ADAMDEC1 2 82724 2.41768E-5 41362 0 NA
8-24249839-C-T p.His51His synonymous ADAMDEC1 1 82750 1.20846E-5 41375 0 4.13777E-5
8-24249868-A-C p.Asn61Thr missense ADAMDEC1 1 82794 1.20782E-5 41397 0 2.48505E-5
8-24249875-A-G p.Thr63Thr synonymous ADAMDEC1 4 82768 4.83279E-5 41384 0 1.27356E-4
8-24250767-G-T c.208-8G>T splice_region ADAMDEC1 6 79458 7.55116E-5 39729 0 5.1428E-5
8-24250780-G-A p.Arg71Arg synonymous ADAMDEC1 3 80388 3.7319E-5 40194 0 6.68282E-5
8-24250786-A-G p.Glu73Glu synonymous ADAMDEC1 1 80604 1.24063E-5 40302 0 1.66592E-5
8-24250787-C-A p.Pro74Thr missense ADAMDEC1 2 80550 2.48293E-5 40275 0 8.32639E-6
8-24250797-A-G p.Gln77Arg missense ADAMDEC1 4 80828 4.94878E-5 40414 0 4.15524E-5
8-24250802-C-T p.Gln79* stop_gained ADAMDEC1 2 80888 2.47255E-5 40444 0 2.49207E-5
8-24250809-T-C p.Ile81Thr missense ADAMDEC1 886 80908 0.0109507 40454 33 0.0234226
8-24250823-G-T p.Glu86* stop_gained ADAMDEC1 1 80810 1.23747E-5 40405 0 6.25E-4
8-24250832-C-G p.Leu89Val missense ADAMDEC1 880 80632 0.0109138 40316 1 0.017522
8-24250834-C-A p.Leu89Leu synonymous ADAMDEC1 1 80728 1.23873E-5 40364 0 NA
8-24250840-A-G p.Leu91Leu synonymous ADAMDEC1 3 80600 3.72208E-5 40300 0 NA
8-24250841-C-T p.Gln92* stop_gained ADAMDEC1 1 80576 1.24106E-5 40288 0 3.32419E-5
8-24250858-T-G c.284+7T>G splice_region ADAMDEC1 1 79948 1.25081E-5 39974 0 NA
8-24251578-A-G c.285-4A>G splice_region ADAMDEC1 1 81592 1.22561E-5 40796 0 8.30248E-6
8-24251583-C-A p.His96Asn missense+splice_region ADAMDEC1 2 81720 2.44738E-5 40860 0 9.57717E-5
8-24251585-C-T p.His96His synonymous ADAMDEC1 2 81764 2.44606E-5 40882 0 7.97989E-6
8-24251585-C-A p.His96Gln missense ADAMDEC1 1 81764 1.22303E-5 40882 0 NA
8-24251587-T-G p.Leu97Arg missense ADAMDEC1 2 81786 2.44541E-5 40893 0 NA
8-24251594-G-A p.Gly99Gly synonymous ADAMDEC1 1 81912 1.22082E-5 40956 0 3.56356E-4
8-24251599-A-C p.Asp101Ala missense ADAMDEC1 16 81938 1.9527E-4 40969 0 0.001875
8-24251605-C-T p.Thr103Ile missense ADAMDEC1 1 82016 1.21927E-5 41008 0 8.28308E-6
8-24251614-T-C p.Leu106Ser missense ADAMDEC1 1 82036 1.21898E-5 41018 0 5.97786E-5
8-24251623-C-T p.Pro109Leu missense ADAMDEC1 1 82026 1.21913E-5 41013 0 3.98559E-6
8-24251644-C-T p.Thr116Met missense ADAMDEC1 13 81868 1.58792E-4 40934 0 0.00103822
8-24251645-G-A p.Thr116Thr synonymous ADAMDEC1 1 81882 1.22127E-5 40941 0 1.91186E-4
8-24251650-C-T p.Pro118Leu missense ADAMDEC1 1 81824 1.22214E-5 40912 0 NA
8-24251658-A-G p.Met121Val missense+splice_region ADAMDEC1 1 81682 1.22426E-5 40841 0 NA
8-24251659-T-C p.Met121Thr missense+splice_region ADAMDEC1 983 81622 0.0120433 40811 37 0.0255447
8-24253236-C-T p.His123Tyr missense ADAMDEC1 1 82116 1.21779E-5 41058 0 1.19917E-5
8-24253237-A-T p.His123Leu missense ADAMDEC1 1 82150 1.21729E-5 41075 0 NA
8-24253246-A-G p.Tyr126Cys missense ADAMDEC1 3 82298 3.64529E-5 41149 0 1.99494E-5
8-24253260-C-G p.Leu131Val missense ADAMDEC1 1 82440 1.213E-5 41220 0 NA
8-24253271-G-T p.Lys134Asn missense ADAMDEC1 1 82504 1.21206E-5 41252 0 3.98708E-6
8-24253290-A-G p.Ser141Gly missense ADAMDEC1 20 82470 2.42512E-4 41235 0 2.23259E-4
8-24253299-G-A p.Asp144Asn missense ADAMDEC1 2 82420 2.4266E-5 41210 0 2.39303E-5
8-24253301-C-T p.Asp144Asp synonymous ADAMDEC1 3 82384 3.64148E-5 41192 0 1.65667E-5
8-24253302-G-A p.Gly145Arg missense ADAMDEC1 1 82356 1.21424E-5 41178 0 1.1972E-5
8-24253307-G-A p.Leu146Leu splice_region+synonymous ADAMDEC1 1 82322 1.21474E-5 41161 0 8.28816E-6
8-24253310-G-A c.440+1G>A splice_donor ADAMDEC1 1 82232 1.21607E-5 41116 0 3.99425E-6
8-24254778-C-T c.441-5C>T splice_region ADAMDEC1 1 82568 1.21112E-5 41284 0 8.09684E-6
8-24254779-C-A c.441-4C>A splice_region ADAMDEC1 1 82580 1.21095E-5 41290 0 NA
8-24254789-C-G p.Tyr149* stop_gained ADAMDEC1 1 82648 1.20995E-5 41324 0 NA
8-24254790-T-G p.Phe150Val missense ADAMDEC1 3 82658 3.62941E-5 41329 0 NA
8-24254800-A-T p.His153Leu missense ADAMDEC1 1 82702 1.20916E-5 41351 0 NA
8-24254801-T-A p.His153Gln missense ADAMDEC1 1 82702 1.20916E-5 41351 0 NA
8-24254813-C-A p.Tyr157* stop_gained ADAMDEC1 1 82756 1.20837E-5 41378 0 NA
8-24254818-T-C p.Ile159Thr missense ADAMDEC1 1 82774 1.20811E-5 41387 0 2.79247E-5
8-24254829-A-G p.Lys163Glu missense ADAMDEC1 4 82780 4.83208E-5 41390 0 6.25E-4
8-24254840-C-T p.Asp166Asp synonymous ADAMDEC1 4 82786 4.83173E-5 41393 0 2.15268E-4
8-24254841-G-A p.Glu167Lys missense ADAMDEC1 1 82788 1.2079E-5 41394 0 1.65254E-5
8-24254847-G-A p.Glu169Lys missense ADAMDEC1 1 82814 1.20753E-5 41407 0 1.27564E-4
8-24254855-C-T p.Ala171Ala synonymous ADAMDEC1 10 82788 1.2079E-4 41394 0 1.91095E-4
8-24254856-G-T p.Val172Phe missense ADAMDEC1 8 82794 9.66254E-5 41397 0 9.96691E-5
8-24254856-G-A p.Val172Ile missense ADAMDEC1 4 82794 4.83127E-5 41397 0 7.43777E-5
8-24254874-G-A p.Glu178Lys missense ADAMDEC1 1 82780 1.20802E-5 41390 0 8.26829E-6
8-24254880-C-A p.Gln180Lys missense ADAMDEC1 1 82776 1.20808E-5 41388 0 1.65407E-5
8-24254887-C-T p.Pro182Leu missense ADAMDEC1 1 82770 1.20817E-5 41385 0 4.96303E-5
8-24254917-C-T p.Thr192Ile missense ADAMDEC1 1 82658 1.2098E-5 41329 0 2.48451E-5
8-24254921-C-T p.Asp193Asp synonymous ADAMDEC1 6 82634 7.26093E-5 41317 0 9.55536E-5
8-24254922-G-A p.Gly194Arg missense ADAMDEC1 2 82624 2.4206E-5 41312 0 3.18532E-4
8-24254933-C-T p.Gly197Gly synonymous ADAMDEC1 3 82560 3.63372E-5 41280 0 3.59416E-5
8-24254941-G-A p.Arg200Gln missense ADAMDEC1 3 82490 3.6368E-5 41245 0 3.19714E-5
8-24254942-AATCTCTAG-A p.Ser202fs frameshift ADAMDEC1 4 82490 4.84907E-5 41245 0 5.80595E-5
8-24254959-A-G p.Lys206Arg missense ADAMDEC1 1 82326 1.21468E-5 41163 0 1.66016E-5
8-24254963-C-T p.Ser207Ser synonymous ADAMDEC1 1 82274 1.21545E-5 41137 0 NA
8-24254967-G-A p.Glu209Lys missense+splice_region ADAMDEC1 1 82216 1.21631E-5 41108 0 3.18552E-5
8-24254974-A-G c.627+5A>G splice_region ADAMDEC1 1 82122 1.2177E-5 41061 0 NA
8-24255189-T-C c.628-7T>C splice_region ADAMDEC1 1 81994 1.2196E-5 40997 0 NA
8-24255196-AAAG-A p.Glu211del disruptive_inframe_deletion ADAMDEC1 3 82060 3.65586E-5 41030 0 4.17509E-5
8-24255202-G-A p.Asp212Asn missense ADAMDEC1 3 82072 3.65533E-5 41036 0 NA
8-24255202-G-C p.Asp212His missense ADAMDEC1 1 82072 1.21844E-5 41036 0 1.66597E-5
8-24255211-C-T p.Arg215Trp missense ADAMDEC1 6 82134 7.30514E-5 41067 0 0.001875
8-24255211-C-G p.Arg215Gly missense ADAMDEC1 1 82134 1.21752E-5 41067 0 NA
8-24255266-T-C c.690+8T>C splice_region ADAMDEC1 1 82100 1.21803E-5 41050 0 3.18573E-5
8-24256004-T-G p.Tyr234* stop_gained ADAMDEC1 1 81350 1.22926E-5 40675 0 NA
8-24256007-T-A p.Asn235Lys missense ADAMDEC1 83 81482 0.00101863 40741 1 0.00352467
8-24256014-C-T p.Leu238Leu synonymous ADAMDEC1 1 81642 1.22486E-5 40821 0 4.05722E-6
8-24256024-T-A p.Ile241Lys missense ADAMDEC1 3 81776 3.66856E-5 40888 0 NA
8-24256031-C-G p.Ser243Arg missense ADAMDEC1 1 81830 1.22205E-5 40915 0 NA
8-24256044-G-A p.Val248Met missense ADAMDEC1 2 81852 2.44343E-5 40926 0 1.33626E-4
8-24256052-C-T p.Asn250Asn synonymous ADAMDEC1 3035 81612 0.0371882 40806 122 0.0616617
8-24256389-A-T p.Ile255Ile splice_region+synonymous ADAMDEC1 699 82356 0.00848754 41178 16 0.0175467
8-24256390-T-C p.Tyr256His missense ADAMDEC1 3 82386 3.6414E-5 41193 0 0.00100806
8-24256391-A-G p.Tyr256Cys missense ADAMDEC1 2 82412 2.42683E-5 41206 0 0.00100806
8-24256405-G-A p.Val261Ile missense ADAMDEC1 1 82500 1.21212E-5 41250 0 7.98231E-6
8-24256427-T-C p.Met268Thr missense ADAMDEC1 2 82612 2.42096E-5 41306 0 3.98702E-6
8-24256429-G-A p.Glu269Lys missense ADAMDEC1 1 82624 1.2103E-5 41312 0 NA
8-24256446-G-C p.Gly274Gly synonymous ADAMDEC1 1 82718 1.20893E-5 41359 0 8.25137E-6
8-24256457-A-T p.Lys278Met missense ADAMDEC1 1 82706 1.2091E-5 41353 0 3.18532E-5
8-24256463-T-C p.Val280Ala missense ADAMDEC1 4 82678 4.83805E-5 41339 0 2.54874E-4
8-24256465-C-T p.Pro281Ser missense ADAMDEC1 2 82684 2.41885E-5 41342 0 6.37928E-5
8-24256470-C-T p.Ser282Ser synonymous ADAMDEC1 32131 82368 0.390091 41184 6622 0.41375
8-24256471-G-A p.Ala283Thr missense ADAMDEC1 2 82668 2.41932E-5 41334 0 NA
8-24256482-G-A p.Thr286Thr synonymous ADAMDEC1 9 82682 1.08851E-4 41341 0 5.41401E-4
8-24256483-T-G p.Phe287Val missense ADAMDEC1 1 82684 1.20942E-5 41342 0 NA
8-24256490-A-G p.Asn289Ser missense ADAMDEC1 2 82676 2.41908E-5 41338 0 3.58935E-5
8-24256506-C-A p.His294Gln missense ADAMDEC1 7 82668 8.46761E-5 41334 0 4.39122E-5
8-24256512-T-C p.Ser296Ser synonymous ADAMDEC1 713 82620 0.00862987 41310 18 0.0174952
8-24256517-T-C p.Leu298Pro missense ADAMDEC1 1 82638 1.2101E-5 41319 0 3.18532E-5
8-24256517-TG-T p.Lys301fs frameshift ADAMDEC1 1 82638 1.2101E-5 41319 0 NA
8-24256519-G-C p.Gly299Arg missense ADAMDEC1 6 82640 7.26041E-5 41320 0 NA
8-24256523-A-G p.Lys300Arg missense ADAMDEC1 1 82630 1.21021E-5 41315 0 8.28295E-5
8-24256527-G-C p.Lys301Asn missense ADAMDEC1 3 82606 3.6317E-5 41303 0 NA
8-24256531-C-T p.His303Tyr missense ADAMDEC1 6 82598 7.2641E-5 41299 0 4.80157E-5
8-24256533-C-T p.His303His synonymous ADAMDEC1 7 82572 8.47745E-5 41286 0 0.00204708
8-24256535-A-G p.Asp304Gly missense ADAMDEC1 4 82542 4.84602E-5 41271 0 6.25E-4
8-24256537-C-G p.His305Asp missense ADAMDEC1 1 82560 1.21124E-5 41280 0 NA
8-24256538-A-T p.His305Leu missense ADAMDEC1 2 82564 2.42236E-5 41282 0 NA
8-24256546-C-T p.Leu308Phe missense ADAMDEC1 1 82516 1.21189E-5 41258 0 NA
8-24256548-T-C p.Leu308Leu synonymous ADAMDEC1 1 82508 1.212E-5 41254 0 NA
8-24256558-G-C c.929+5G>C splice_region ADAMDEC1 1 82446 1.21292E-5 41223 0 NA
8-24256898-T-C c.930-8T>C splice_region ADAMDEC1 1 83082 1.20363E-5 41541 0 NA
8-24256902-A-G c.930-4A>G splice_region ADAMDEC1 6 83108 7.21952E-5 41554 0 5.17425E-5
8-24256928-C-T p.Arg318Cys missense ADAMDEC1 3 83190 3.6062E-5 41595 0 7.95792E-6
8-24256929-G-T p.Arg318Leu missense ADAMDEC1 1 83204 1.20187E-5 41602 0 NA
8-24256929-G-A p.Arg318His missense ADAMDEC1 2 83204 2.40373E-5 41602 0 4.94535E-5
8-24256930-T-C p.Arg318Arg synonymous ADAMDEC1 230 83206 0.00276422 41603 1 0.0026118
8-24256950-A-G p.Asn325Ser missense ADAMDEC1 1 83224 1.20158E-5 41612 0 NA
8-24256953-C-T p.Ser326Phe missense ADAMDEC1 1 83216 1.20169E-5 41608 0 NA
8-24256953-C-G p.Ser326Cys missense ADAMDEC1 2 83216 2.40338E-5 41608 0 3.18492E-5
8-24256968-C-T p.Ser331Phe missense ADAMDEC1 6 83168 7.21431E-5 41584 0 1.64891E-5
8-24256969-T-C p.Ser331Ser synonymous ADAMDEC1 1 83158 1.20253E-5 41579 0 8.24498E-6
8-24256971-C-T p.Ser332Leu missense ADAMDEC1 2 83136 2.4057E-5 41568 0 2.78485E-5
8-24256972-G-A p.Ser332Ser synonymous ADAMDEC1 2 83128 2.40593E-5 41564 0 3.18756E-5
8-24257676-T-C c.1012-7T>C splice_region ADAMDEC1 1 81792 1.22261E-5 40896 0 NA
8-24257678-T-C c.1012-5T>C splice_region ADAMDEC1 3 81852 3.66515E-5 40926 0 4.59918E-5
8-24257679-C-G c.1012-4C>G splice_region ADAMDEC1 3 81874 3.66417E-5 40937 0 NA
8-24257685-TA-T p.Lys341fs frameshift ADAMDEC1 1 82026 1.21913E-5 41013 0 1.70184E-4
8-24257687-A-G p.Lys339Arg missense ADAMDEC1 1 82158 1.21717E-5 41079 0 NA
8-24257690-A-G p.Lys340Arg missense ADAMDEC1 1 82208 1.21643E-5 41104 0 NA
8-24257705-C-T p.Ala345Val missense ADAMDEC1 1 82492 1.21224E-5 41246 0 1.27516E-5
8-24257709-T-G p.Leu346Leu synonymous ADAMDEC1 50 82696 6.04624E-4 41348 0 0.004375
8-24257731-C-G p.Leu354Val missense ADAMDEC1 1 82946 1.2056E-5 41473 0 NA
8-24257738-A-T p.His356Leu missense ADAMDEC1 1 82978 1.20514E-5 41489 0 8.34543E-6
8-24257750-T-C p.Met360Thr missense ADAMDEC1 1 82998 1.20485E-5 41499 0 NA
8-24257760-T-A p.Val363Val synonymous ADAMDEC1 1 83010 1.20467E-5 41505 0 NA
8-24257763-A-C p.Pro364Pro synonymous ADAMDEC1 1 83006 1.20473E-5 41503 0 NA
8-24257768-A-T p.Asn366Ile missense ADAMDEC1 5 83014 6.02308E-5 41507 0 1.27405E-4
8-24257771-CCA-C p.Lys368fs frameshift ADAMDEC1 1 83006 1.20473E-5 41503 0 8.27513E-6
8-24257775-G-A p.Lys368Lys synonymous ADAMDEC1 1 82970 1.20525E-5 41485 0 5.03525E-4
8-24257777-G-A p.Cys369Tyr missense ADAMDEC1 8 82988 9.63995E-5 41494 0 3.18654E-5
8-24257787-C-T p.Gly372Gly synonymous ADAMDEC1 1 82952 1.20552E-5 41476 0 NA
8-24257789-G-C p.Ser373Thr missense ADAMDEC1 1 82936 1.20575E-5 41468 0 4.01352E-6
8-24257792-G-T p.Cys374Phe missense ADAMDEC1 1 82918 1.20601E-5 41459 0 NA
8-24257805-G-A p.Gln378Gln synonymous ADAMDEC1 4 82890 4.82567E-5 41445 0 6.25E-4
8-24257820-C-A c.1142+7C>A splice_region ADAMDEC1 2 82630 2.42043E-5 41315 0 4.96862E-5
8-24259427-G-A c.1143-1G>A splice_acceptor ADAMDEC1 1 82092 1.21815E-5 41046 0 8.5454E-6
8-24259454-C-T p.Thr390Ile missense ADAMDEC1 3 82360 3.64254E-5 41180 0 1.66694E-5
8-24259462-C-T p.Arg393Cys missense ADAMDEC1 3 82404 3.6406E-5 41202 0 3.18552E-5
8-24259471-T-C p.Phe396Leu missense ADAMDEC1 1 82490 1.21227E-5 41245 0 NA
8-24259479-A-C p.Arg398Ser missense ADAMDEC1 1 82528 1.21171E-5 41264 0 1.65607E-5
8-24259482-C-T p.Tyr399Tyr synonymous ADAMDEC1 15 82554 1.81699E-4 41277 0 3.18573E-5
8-24259482-C-A p.Tyr399* stop_gained ADAMDEC1 2 82554 2.42266E-5 41277 0 3.18573E-5
8-24259499-CA-C p.Lys406fs frameshift ADAMDEC1 1 82620 1.21036E-5 41310 0 NA
8-24259507-C-T p.Leu408Leu synonymous ADAMDEC1 3 82646 3.62994E-5 41323 0 4.78763E-5
8-24259508-T-C p.Leu408Pro missense ADAMDEC1 2 82642 2.42008E-5 41321 0 7.97849E-6
8-24259516-G-T p.Ala411Ser missense ADAMDEC1 2 82672 2.4192E-5 41336 0 NA
8-24259521-T-C p.Pro412Pro synonymous ADAMDEC1 2 82684 2.41885E-5 41342 0 NA
8-24259522-A-G p.Ile413Val missense ADAMDEC1 6 82692 7.25584E-5 41346 0 2.89132E-4
8-24259541-C-T p.Thr419Ile missense ADAMDEC1 1 82708 1.20907E-5 41354 0 NA
8-24259546-C-T p.Pro421Ser missense ADAMDEC1 264 82708 0.00319195 41354 1 0.00340333
8-24259559-A-T p.Asn425Ile missense ADAMDEC1 9 82702 1.08824E-4 41351 0 1.15651E-4
8-24259564-C-T p.Leu427Phe missense ADAMDEC1 1 82696 1.20925E-5 41348 0 NA
8-24259583-A-G p.Asp433Gly missense ADAMDEC1 1 82656 1.20983E-5 41328 0 NA
8-24259600-C-T p.Pro439Ser missense ADAMDEC1 602 82560 0.00729167 41280 11 0.0145578
8-24259606-G-T c.1320+1G>T splice_donor ADAMDEC1 1 82498 1.21215E-5 41249 0 NA
8-24261517-AGT-A p.Cys442fs frameshift ADAMDEC1 1 83090 1.20351E-5 41545 0 NA
8-24261518-G-A p.Glu441Glu splice_region+synonymous ADAMDEC1 708 83086 0.00852129 41543 18 0.0173689
8-24261526-A-G p.Asn444Ser missense ADAMDEC1 32509 82706 0.393067 41353 6746 0.416875
8-24261526-A-T p.Asn444Ile missense ADAMDEC1 1 83116 1.20314E-5 41558 0 8.26884E-6
8-24261536-T-A p.Cys447* stop_gained ADAMDEC1 1 83146 1.2027E-5 41573 0 NA
8-24261547-C-T p.Thr451Met missense ADAMDEC1 529 83170 0.00636047 41585 4 0.00879597
8-24261565-G-C p.Gly457Ala missense ADAMDEC1 1 83186 1.20213E-5 41593 0 NA
8-24261575-CGGA-C p.Gly462del disruptive_inframe_deletion ADAMDEC1 1 83136 1.20285E-5 41568 0 NA
8-24261575-C-T p.Cys460Cys synonymous ADAMDEC1 2 83136 2.4057E-5 41568 0 1.5941E-5
8-24261576-G-A p.Gly461Arg missense ADAMDEC1 8 83132 9.62325E-5 41566 0 1.27437E-4
8-24261595-A-G p.His467Arg missense ADAMDEC1 2 83036 2.40859E-5 41518 1 NA
8-24261601-C-A p.Thr469Lys missense+splice_region ADAMDEC1 2 82964 2.41068E-5 41482 0 1.20414E-5
8-24261602-G-C c.1406+1G>C splice_donor ADAMDEC1 3 82940 3.61707E-5 41470 0 NA
8-24261602-G-A c.1406+1G>A splice_donor ADAMDEC1 4 82938 4.82288E-5 41469 0 6.37105E-5
8-24261604-A-G c.1406+3A>G splice_region ADAMDEC1 1 82936 1.20575E-5 41468 0 8.44081E-6
8-24261608-C-A c.1406+7C>A splice_region ADAMDEC1 1 82884 1.20651E-5 41442 0 NA
8-24262800-A-G c.1407-5A>G splice_region ADAMDEC1 19 82486 2.30342E-4 41243 0 5.42023E-4
8-24262804-G-A c.1407-1G>A splice_acceptor ADAMDEC1 11 82516 1.33307E-4 41258 0 3.50832E-4
8-24262959-T-A n.153+2T>A splice_donor ADAMDEC1 1 75452 1.32535E-5 37726 0 NA
8-24263033-C-CT n.154-5dupT splice_region ADAMDEC1 9 50076 1.79727E-4 25038 0 1.8997E-4
8-24263033-CT-C n.154-5delT splice_region ADAMDEC1 1 50076 1.99696E-5 25038 0 NA
8-24263046-G-C n.154-1G>C splice_acceptor ADAMDEC1 2 44888 4.45553E-5 22444 0 NA



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