Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-73148855-ATCTT-A p.Glu1204fs frameshift ADAMTS3 2 82942 2.41132E-5 41471 0 5.03525E-4
4-73148865-G-C p.Thr1202Thr synonymous ADAMTS3 5 82978 6.02569E-5 41489 0 9.55353E-5
4-73148881-G-A p.Pro1197Leu missense ADAMTS3 1 82956 1.20546E-5 41478 0 6.25E-4
4-73148885-G-A p.Arg1196Cys missense ADAMTS3 29 82956 3.49583E-4 41478 0 6.25E-4
4-73148887-C-T p.Arg1195Lys missense ADAMTS3 9 82968 1.08476E-4 41484 0 8.00679E-6
4-73148891-T-G p.Asn1194His missense ADAMTS3 2 82954 2.41097E-5 41477 0 NA
4-73148893-T-C p.Asp1193Gly missense ADAMTS3 7 82950 8.43882E-5 41475 0 4.14065E-4
4-73148899-A-T p.Ile1191Asn missense ADAMTS3 1 82938 1.20572E-5 41469 0 NA
4-73148900-T-C p.Ile1191Val missense ADAMTS3 1 82938 1.20572E-5 41469 0 3.18492E-5
4-73148904-T-C p.Gly1189Gly synonymous ADAMTS3 4 82930 4.82335E-5 41465 0 NA
4-73148911-T-G p.Lys1187Thr missense ADAMTS3 2 82884 2.41301E-5 41442 0 NA
4-73148915-T-A p.Lys1186* stop_gained ADAMTS3 1 82854 1.20694E-5 41427 0 8.28281E-6
4-73148917-G-A p.Ser1185Leu missense ADAMTS3 3 82854 3.62083E-5 41427 0 3.18654E-5
4-73148919-G-A p.Thr1184Thr synonymous ADAMTS3 1 82848 1.20703E-5 41424 0 3.98708E-6
4-73148928-C-T p.Gln1181Gln synonymous ADAMTS3 1 82788 1.2079E-5 41394 0 3.98514E-6
4-73148929-TG-T p.Gln1181fs frameshift ADAMTS3 1 82778 1.20805E-5 41389 0 NA
4-73148931-A-C p.Ser1180Ser synonymous ADAMTS3 1 82784 1.20796E-5 41392 0 8.25369E-6
4-73148935-G-A p.Ser1179Phe missense ADAMTS3 1 82766 1.20823E-5 41383 0 3.18634E-5
4-73148941-C-T p.Gly1177Asp missense ADAMTS3 1 82738 1.20863E-5 41369 0 2.47451E-5
4-73148958-T-C p.Ala1171Ala synonymous ADAMTS3 2 82668 2.41932E-5 41334 0 NA
4-73148967-G-A p.Ser1168Ser synonymous ADAMTS3 2 82650 2.41984E-5 41325 0 4.7824E-5
4-73148979-C-G p.Met1164Ile missense ADAMTS3 1 82590 1.2108E-5 41295 0 8.24198E-6
4-73148995-C-A p.Ser1159Ile missense ADAMTS3 1 82536 1.21159E-5 41268 0 8.24185E-6
4-73149006-C-A p.Arg1155Ser missense ADAMTS3 1 82496 1.21218E-5 41248 0 3.98683E-6
4-73149012-G-T p.Thr1153Thr synonymous ADAMTS3 5 82504 6.06031E-5 41252 0 5.03525E-4
4-73149012-G-A p.Thr1153Thr synonymous ADAMTS3 1 82504 1.21206E-5 41252 0 NA
4-73149013-G-A p.Thr1153Ile missense ADAMTS3 2 82510 2.42395E-5 41255 0 NA
4-73149014-T-C p.Thr1153Ala missense ADAMTS3 1 82506 1.21203E-5 41253 0 NA
4-73149019-G-T p.Pro1151Gln missense ADAMTS3 1 82516 1.21189E-5 41258 0 NA
4-73149026-A-C p.Ser1149Ala missense ADAMTS3 1 82496 1.21218E-5 41248 0 5.03525E-4
4-73149028-G-A p.Pro1148Leu missense ADAMTS3 352 82510 0.00426615 41255 6 0.00952897
4-73149032-C-T p.Val1147Ile missense ADAMTS3 4 82518 4.84743E-5 41259 0 2.79289E-5
4-73149033-G-A p.Thr1146Thr synonymous ADAMTS3 1 82520 1.21183E-5 41260 0 1.99448E-5
4-73149034-G-A p.Thr1146Ile missense ADAMTS3 1 82530 1.21168E-5 41265 0 NA
4-73149047-C-T p.Val1142Met missense ADAMTS3 34 82596 4.11642E-4 41298 0 0.00100705
4-73149051-C-A p.Lys1140Asn missense ADAMTS3 1 82614 1.21045E-5 41307 0 3.98845E-6
4-73149077-T-C p.Arg1132Gly missense ADAMTS3 2 82706 2.4182E-5 41353 0 3.29821E-5
4-73149080-G-A p.Gln1131* stop_gained ADAMTS3 1 82724 1.20884E-5 41362 0 NA
4-73149082-C-T p.Arg1130His missense ADAMTS3 4 82724 4.83536E-5 41362 0 6.77761E-5
4-73149083-G-A p.Arg1130Cys missense ADAMTS3 1 82730 1.20875E-5 41365 0 1.64924E-5
4-73149097-T-G p.Asp1125Ala missense ADAMTS3 2 82746 2.41704E-5 41373 0 3.18573E-5
4-73149101-G-A p.Pro1124Ser missense ADAMTS3 7 82758 8.4584E-5 41379 0 6.37105E-5
4-73149106-C-T p.Ser1122Asn missense ADAMTS3 53 82756 6.40437E-4 41378 0 0.0075
4-73149126-A-G p.Tyr1115Tyr synonymous ADAMTS3 1 82770 1.20817E-5 41385 0 NA
4-73149129-T-C p.Ala1114Ala synonymous ADAMTS3 1 82760 1.20831E-5 41380 0 0.001875
4-73149131-C-CTTGTTTA p.Ala1114fs frameshift ADAMTS3 1 82748 1.20849E-5 41374 0 NA
4-73149140-C-T p.Gly1111Ser missense ADAMTS3 1 82724 1.20884E-5 41362 0 3.18593E-5
4-73149174-C-T p.Lys1099Lys synonymous ADAMTS3 4 82726 4.83524E-5 41363 0 5.03525E-4
4-73149182-G-A p.Pro1097Ser missense ADAMTS3 71 82748 8.58027E-4 41374 0 6.92521E-4
4-73149187-T-C p.Glu1095Gly missense ADAMTS3 2 82760 2.41663E-5 41380 0 NA
4-73149190-G-T p.Ser1094* stop_gained ADAMTS3 2 82786 2.41587E-5 41393 0 NA
4-73149217-A-C p.Met1085Arg missense ADAMTS3 2 82918 2.41202E-5 41459 0 NA
4-73149218-T-C p.Met1085Val missense ADAMTS3 1 82918 1.20601E-5 41459 0 3.29701E-5
4-73149244-G-A p.Pro1076Leu missense ADAMTS3 1 83078 1.20369E-5 41539 0 3.18512E-5
4-73149251-A-G p.Ser1074Pro missense ADAMTS3 872 83088 0.0104949 41544 28 0.020427
4-73149258-A-G p.Asp1071Asp synonymous ADAMTS3 1 83112 1.2032E-5 41556 0 0.00125
4-73149268-G-C p.Thr1068Ser missense ADAMTS3 2 83142 2.40552E-5 41571 0 1.64818E-5
4-73149273-A-G p.Ala1066Ala synonymous ADAMTS3 1 83142 1.20276E-5 41571 0 NA
4-73149275-C-T p.Ala1066Thr missense ADAMTS3 2 83144 2.40547E-5 41572 0 3.18715E-5
4-73149284-G-A p.Leu1063Leu synonymous ADAMTS3 2 83108 2.40651E-5 41554 0 6.37064E-5
4-73149288-G-A p.Tyr1061Tyr synonymous ADAMTS3 103 83116 0.00123923 41558 1 0.00347178
4-73149299-GC-AA p.LeuPro1057LeuSer missense ADAMTS3 3 83060 3.61185E-5 41530 0 NA
4-73149311-T-G p.Ser1054Arg missense ADAMTS3 1 82994 1.20491E-5 41497 0 8.24321E-6
4-73149314-G-A p.Arg1053Cys missense ADAMTS3 3 82962 3.61611E-5 41481 0 6.37105E-5
4-73149325-G-C p.Ser1049Cys missense ADAMTS3 3 82920 3.61795E-5 41460 0 3.98371E-6
4-73149329-C-T p.Glu1048Lys missense ADAMTS3 3 82884 3.61952E-5 41442 0 0.00125
4-73149335-A-G p.Cys1046Arg missense ADAMTS3 1 82840 1.20715E-5 41420 0 8.24769E-6
4-73149340-T-C p.Lys1044Arg missense ADAMTS3 5 82772 6.04069E-5 41386 0 1.64954E-5
4-73149343-T-C p.Asn1043Ser missense ADAMTS3 1 82728 1.20878E-5 41364 0 NA
4-73149356-T-A p.Ile1039Leu missense ADAMTS3 1 82560 1.21124E-5 41280 0 NA
4-73149358-G-A p.Ser1038Phe missense ADAMTS3 18 82530 2.18103E-4 41265 0 5.04032E-4
4-73149367-C-T p.Arg1035Gln missense ADAMTS3 5 82406 6.06752E-5 41203 0 9.55962E-5
4-73149370-G-A p.Ala1034Val missense ADAMTS3 1 82308 1.21495E-5 41154 0 NA
4-73149377-C-G p.Val1032Leu missense ADAMTS3 1 82210 1.2164E-5 41105 0 1.66442E-5
4-73149382-A-G p.Met1030Thr missense ADAMTS3 2 82100 2.43605E-5 41050 0 NA
4-73149418-T-G p.Glu1018Ala missense ADAMTS3 1 80118 1.24816E-5 40059 0 NA
4-73149422-C-A c.3050-1G>T splice_acceptor ADAMTS3 1 79628 1.25584E-5 39814 0 NA
4-73149426-A-G c.3050-5T>C splice_region ADAMTS3 1 79200 1.26263E-5 39600 0 3.1841E-5
4-73154468-C-T p.Asp1017Asn missense+splice_region ADAMTS3 2 82786 2.41587E-5 41393 0 1.65462E-5
4-73154470-T-C p.Asn1016Ser missense+splice_region ADAMTS3 5 82802 6.0385E-5 41401 0 5.03525E-4
4-73154499-C-T p.Ser1006Ser synonymous ADAMTS3 4 82906 4.82474E-5 41453 0 6.3743E-5
4-73154500-G-A p.Ser1006Leu missense ADAMTS3 3 82906 3.61856E-5 41453 0 4.78484E-5
4-73154500-GA-TT p.Ser1006Lys missense ADAMTS3 1 82906 1.20619E-5 41453 0 NA
4-73154516-C-T p.Gly1001Ser missense ADAMTS3 1 82986 1.20502E-5 41493 0 NA
4-73154517-A-G p.Asp1000Asp synonymous ADAMTS3 3 82992 3.61481E-5 41496 0 0.00125
4-73154530-C-G p.Gly996Ala missense ADAMTS3 1 83004 1.20476E-5 41502 0 NA
4-73154531-C-T p.Gly996Arg missense ADAMTS3 1 83006 1.20473E-5 41503 0 6.37389E-5
4-73154536-C-T p.Arg994Lys missense ADAMTS3 2 83016 2.40917E-5 41508 0 1.19556E-5
4-73154555-C-A p.Val988Leu missense ADAMTS3 1 83022 1.2045E-5 41511 0 NA
4-73154559-C-T p.Thr986Thr synonymous ADAMTS3 1 83022 1.2045E-5 41511 0 6.3861E-5
4-73154560-G-A p.Thr986Met missense ADAMTS3 1 83024 1.20447E-5 41512 0 7.97124E-6
4-73154578-A-T p.Val980Glu missense ADAMTS3 1 82886 1.20648E-5 41443 0 3.98858E-6
4-73154581-G-A p.Ser979Leu missense ADAMTS3 1 82882 1.20653E-5 41441 0 NA
4-73154589-C-T c.2932-4G>A splice_region ADAMTS3 1 82754 1.2084E-5 41377 0 NA
4-73156565-C-T c.2931+7G>A splice_region ADAMTS3 13 80734 1.61023E-4 40367 0 0.00252525
4-73156567-C-T c.2931+5G>A splice_region ADAMTS3 1 80788 1.23781E-5 40394 0 3.99747E-6
4-73156583-G-T p.Pro974Thr missense ADAMTS3 2 81346 2.45863E-5 40673 0 3.18674E-5
4-73156592-T-C p.Lys971Glu missense ADAMTS3 2 81556 2.4523E-5 40778 0 NA
4-73156597-T-C p.Gln969Arg missense ADAMTS3 1 81730 1.22354E-5 40865 0 NA
4-73156601-C-G p.Ala968Pro missense ADAMTS3 1 81846 1.22181E-5 40923 0 NA
4-73156605-G-A p.Cys966Cys synonymous ADAMTS3 1 81958 1.22014E-5 40979 0 3.18573E-5
4-73156612-A-C p.Val964Gly missense ADAMTS3 1 82142 1.2174E-5 41071 0 NA
4-73156631-G-A p.Arg958Cys missense ADAMTS3 1 82480 1.21242E-5 41240 0 5.03525E-4
4-73156637-C-T p.Glu956Lys missense ADAMTS3 1 82540 1.21153E-5 41270 0 1.64905E-5
4-73156642-C-T p.Arg954His missense ADAMTS3 1 82586 1.21086E-5 41293 0 9.06947E-5
4-73156643-G-A p.Arg954Cys missense ADAMTS3 1 82604 1.2106E-5 41302 0 1.99233E-5
4-73156659-T-A p.Lys948Asn missense ADAMTS3 1 82704 1.20913E-5 41352 0 NA
4-73156660-T-C p.Lys948Arg missense ADAMTS3 1 82702 1.20916E-5 41351 0 3.18451E-5
4-73156671-A-G p.Ser944Ser synonymous ADAMTS3 1 82752 1.20843E-5 41376 0 1.59356E-5
4-73156675-C-T p.Arg943His missense ADAMTS3 32 82750 3.86707E-4 41375 0 6.25E-4
4-73156678-T-C p.Asn942Ser missense ADAMTS3 315 82772 0.00380563 41386 2 0.00553877
4-73156690-A-G p.Leu938Pro missense ADAMTS3 1 82816 1.2075E-5 41408 0 NA
4-73156692-G-C p.Leu937Leu synonymous ADAMTS3 1 82840 1.20715E-5 41420 0 NA
4-73156694-G-A p.Leu937Phe missense ADAMTS3 1 82862 1.20683E-5 41431 0 3.18471E-5
4-73156703-G-A p.Leu934Phe missense ADAMTS3 2 82886 2.41295E-5 41443 0 3.18532E-5
4-73156709-G-A p.Arg932Cys missense ADAMTS3 1 82892 1.20639E-5 41446 0 1.64864E-5
4-73156715-T-G p.Thr930Pro missense ADAMTS3 1 82920 1.20598E-5 41460 0 NA
4-73156717-C-G p.Arg929Pro missense ADAMTS3 4 82914 4.82428E-5 41457 0 3.98292E-6
4-73156718-G-A p.Arg929Cys missense ADAMTS3 1 82936 1.20575E-5 41468 0 3.58457E-5
4-73156723-T-C p.Gln927Arg missense ADAMTS3 24 82940 2.89366E-4 41470 0 1.91205E-4
4-73156732-G-A p.Ser924Phe missense ADAMTS3 1 82920 1.20598E-5 41460 0 NA
4-73156740-A-G p.Cys921Cys synonymous ADAMTS3 26 82898 3.13638E-4 41449 0 1.81392E-4
4-73156750-G-A p.Thr918Ile missense ADAMTS3 1 82862 1.20683E-5 41431 0 3.98346E-6
4-73156756-T-A p.His916Leu missense ADAMTS3 2 82828 2.41464E-5 41414 0 1.64981E-5
4-73156765-T-C p.Glu913Gly missense ADAMTS3 1 82780 1.20802E-5 41390 0 6.37608E-5
4-73156783-T-G c.2724-4A>C splice_region ADAMTS3 3 82604 3.63179E-5 41302 0 3.19073E-5
4-73156786-G-A c.2724-7C>T splice_region ADAMTS3 1 82570 1.21109E-5 41285 0 NA
4-73161365-G-A c.2723+6C>T splice_region ADAMTS3 3 82878 3.61978E-5 41439 0 1.21677E-5
4-73161371-A-G p.Leu908Pro missense+splice_region ADAMTS3 2 82920 2.41196E-5 41460 0 NA
4-73161373-T-C p.Pro907Pro splice_region+synonymous ADAMTS3 1 82912 1.2061E-5 41456 0 NA
4-73161379-T-C p.Thr905Thr synonymous ADAMTS3 3 83002 3.61437E-5 41501 0 2.48213E-5
4-73161383-C-T p.Cys904Tyr missense ADAMTS3 1 83024 1.20447E-5 41512 0 1.6539E-5
4-73161398-C-T p.Cys899Tyr missense ADAMTS3 1 83074 1.20375E-5 41537 0 NA
4-73161399-A-C p.Cys899Gly missense ADAMTS3 1 83082 1.20363E-5 41541 0 3.98657E-6
4-73161399-A-G p.Cys899Arg missense ADAMTS3 1 83082 1.20363E-5 41541 0 NA
4-73161412-A-G p.Pro894Pro synonymous ADAMTS3 3 83094 3.61037E-5 41547 0 1.65066E-5
4-73161418-C-T p.Pro892Pro synonymous ADAMTS3 5 83092 6.01743E-5 41546 0 4.12664E-5
4-73161425-T-C p.Lys890Arg missense ADAMTS3 3 83090 3.61054E-5 41545 0 8.25246E-5
4-73161428-T-C p.Asn889Ser missense ADAMTS3 6 83082 7.22178E-5 41541 0 3.18743E-5
4-73161434-T-G p.Glu887Ala missense ADAMTS3 2 83074 2.40749E-5 41537 0 3.18695E-5
4-73161447-G-A p.Arg883Cys missense ADAMTS3 13 83074 1.56487E-4 41537 0 9.56511E-5
4-73161450-G-A p.His882Tyr missense ADAMTS3 2 83080 2.40732E-5 41540 0 3.18674E-5
4-73161476-C-T p.Arg873His missense ADAMTS3 2 82948 2.41115E-5 41474 0 6.37552E-5
4-73161511-A-G c.2591-8T>C splice_region ADAMTS3 2 82572 2.42213E-5 41286 0 NA
4-73163944-G-T n.863C>A splice_region ADAMTS3 1 78934 1.26688E-5 39467 0 NA
4-73163986-A-G c.2590+8T>C splice_region ADAMTS3 4 82480 4.84966E-5 41240 0 NA
4-73164011-G-A p.Ser858Phe missense ADAMTS3 3 82808 3.62284E-5 41404 0 2.79365E-5
4-73164013-A-G p.Cys857Cys synonymous ADAMTS3 1 82810 1.20758E-5 41405 0 NA
4-73164019-A-C p.Ser855Ser synonymous ADAMTS3 1 82842 1.20712E-5 41421 0 3.5894E-5
4-73164044-A-G p.Phe847Ser missense ADAMTS3 5 82832 6.03631E-5 41416 0 NA
4-73164051-C-A p.Asp845Tyr missense ADAMTS3 2 82812 2.41511E-5 41406 0 NA
4-73164087-T-C p.Thr833Ala missense ADAMTS3 1 82810 1.20758E-5 41405 0 8.25846E-6
4-73164089-G-A p.Pro832Leu missense ADAMTS3 1 82812 1.20755E-5 41406 0 NA
4-73164091-T-C p.Val831Val synonymous ADAMTS3 1 82804 1.20767E-5 41402 0 NA
4-73164112-G-A p.Tyr824Tyr synonymous ADAMTS3 1 82842 1.20712E-5 41421 0 NA
4-73164115-C-T p.Lys823Lys synonymous ADAMTS3 1 82830 1.20729E-5 41415 0 7.97588E-6
4-73164119-T-C p.Tyr822Cys missense ADAMTS3 1 82838 1.20718E-5 41419 0 1.59562E-5
4-73164134-C-A p.Arg817Leu missense ADAMTS3 1 82710 1.20904E-5 41355 0 4.00131E-6
4-73164134-C-T p.Arg817His missense ADAMTS3 2 82710 2.41809E-5 41355 0 3.31093E-5
4-73164135-G-A p.Arg817Cys missense ADAMTS3 5 82544 6.05738E-5 41272 0 6.3743E-5
4-73164142-A-C p.Asn814Lys missense ADAMTS3 1 82486 1.21233E-5 41243 0 6.37105E-5
4-73164152-G-C p.Pro811Arg missense ADAMTS3 1 82316 1.21483E-5 41158 0 4.01945E-6
4-73169630-A-T c.2424+4T>A splice_region ADAMTS3 1 82448 1.21289E-5 41224 0 NA
4-73169636-A-G p.Leu808Leu splice_region+synonymous ADAMTS3 1 82596 1.21071E-5 41298 0 1.11676E-4
4-73169641-A-G p.Ile806Thr missense ADAMTS3 2 82666 2.41937E-5 41333 0 3.18492E-5
4-73169645-C-G p.Val805Leu missense ADAMTS3 3 82720 3.62669E-5 41360 0 8.24783E-6
4-73169666-C-T p.Asp798Asn missense ADAMTS3 6 82868 7.24043E-5 41434 0 3.18745E-5
4-73169667-G-A p.Thr797Thr synonymous ADAMTS3 8 82880 9.65251E-5 41440 0 1.27504E-4
4-73169667-G-C p.Thr797Thr synonymous ADAMTS3 1 82880 1.20656E-5 41440 0 NA
4-73169686-T-A p.Asp791Val missense ADAMTS3 3 82972 3.61568E-5 41486 0 1.73105E-4
4-73169695-A-G p.Ile788Thr missense ADAMTS3 5 82994 6.02453E-5 41497 0 6.36943E-5
4-73169711-C-T p.Glu783Lys missense ADAMTS3 2 82998 2.4097E-5 41499 0 NA
4-73169723-C-G p.Asp779His missense ADAMTS3 1 82942 1.20566E-5 41471 0 2.38992E-5
4-73169727-G-T p.Phe777Leu missense ADAMTS3 1 82926 1.20589E-5 41463 0 8.24035E-6
4-73169729-A-G p.Phe777Leu missense ADAMTS3 1 82914 1.20607E-5 41457 0 8.24022E-6
4-73169736-C-T p.Ser774Ser synonymous ADAMTS3 14 82868 1.68943E-4 41434 0 3.34616E-4
4-73169736-C-A p.Ser774Ser synonymous ADAMTS3 22 82868 2.65482E-4 41434 0 0.00100705
4-73169737-G-A p.Ser774Leu missense ADAMTS3 1 82868 1.20674E-5 41434 0 0.00125
4-73169757-G-A p.Gly767Gly synonymous ADAMTS3 2 82746 2.41704E-5 41373 0 8.24579E-6
4-73169760-A-G p.Asn766Asn synonymous ADAMTS3 8 82740 9.66884E-5 41370 0 NA
4-73169768-T-C p.Ile764Val missense ADAMTS3 2 82654 2.41973E-5 41327 0 9.55657E-5
4-73169769-A-G p.Tyr763Tyr synonymous ADAMTS3 1 82640 1.21007E-5 41320 0 8.24906E-6
4-73169773-T-C p.His762Arg missense ADAMTS3 1 82586 1.21086E-5 41293 0 3.98877E-6
4-73169802-A-C c.2261-5T>G splice_region ADAMTS3 2 82330 2.42925E-5 41165 0 8.02729E-6
4-73169804-G-A c.2261-7C>T splice_region ADAMTS3 1 82310 1.21492E-5 41155 0 4.02816E-6
4-73171697-CACTT-C c.2260+3_2260+6delAAGT splice_region ADAMTS3 1 81702 1.22396E-5 40851 0 3.18674E-5
4-73171702-A-G c.2260+2T>C splice_donor ADAMTS3 2 81752 2.44642E-5 40876 0 3.18613E-5
4-73171703-C-T c.2260+1G>A splice_donor ADAMTS3 2 81780 2.44559E-5 40890 0 6.48261E-5
4-73171712-T-C p.His751Arg missense ADAMTS3 1 81878 1.22133E-5 40939 0 8.26214E-6
4-73171725-C-T p.Glu747Lys missense ADAMTS3 24 82000 2.92683E-4 41000 0 5.03525E-4
4-73171726-G-A p.Asp746Asp synonymous ADAMTS3 1 82008 1.21939E-5 41004 0 2.47774E-5
4-73171741-C-A p.Val741Val synonymous ADAMTS3 4 82190 4.86677E-5 41095 0 2.23072E-4
4-73171758-G-C p.Pro736Ala missense ADAMTS3 2 82338 2.42901E-5 41169 0 2.03689E-5
4-73171772-A-G p.Met731Thr missense ADAMTS3 1 82352 1.2143E-5 41176 0 6.37674E-5
4-73171783-C-A p.Gly727Gly splice_region+synonymous ADAMTS3 1 82324 1.21471E-5 41162 0 NA
4-73171790-C-T c.2180-6G>A splice_region ADAMTS3 3 82288 3.64573E-5 41144 0 2.54395E-5
4-73171791-A-G c.2180-7T>C splice_region ADAMTS3 1 82278 1.21539E-5 41139 0 1.65478E-5
4-73175124-G-A p.Pro723Pro synonymous ADAMTS3 1 83120 1.20308E-5 41560 0 7.9706E-6
4-73175150-C-T p.Val715Met missense ADAMTS3 3 83178 3.60672E-5 41589 0 2.39027E-5
4-73175151-G-A p.Thr714Thr synonymous ADAMTS3 1 83174 1.2023E-5 41587 0 6.38203E-5
4-73175152-G-T p.Thr714Asn missense ADAMTS3 1 83172 1.20233E-5 41586 0 NA
4-73175161-T-A p.His711Leu missense ADAMTS3 3 83156 3.60768E-5 41578 0 NA
4-73175161-T-C p.His711Arg missense ADAMTS3 3 83156 3.60768E-5 41578 0 3.18796E-5
4-73175169-A-G p.Asp708Asp synonymous ADAMTS3 2 83164 2.40489E-5 41582 0 1.19527E-5
4-73175170-T-A p.Asp708Val missense ADAMTS3 1 83172 1.20233E-5 41586 0 3.9841E-6
4-73175197-T-C p.Glu699Gly missense ADAMTS3 2 83170 2.40471E-5 41585 0 3.58746E-5
4-73175202-C-T p.Lys697Lys synonymous ADAMTS3 3 83148 3.60802E-5 41574 0 5.7835E-5
4-73175216-T-C p.Ile693Val missense ADAMTS3 1 83106 1.20328E-5 41553 0 3.18898E-5
4-73175220-T-G p.Lys691Asn missense ADAMTS3 1 83104 1.20331E-5 41552 0 1.6527E-5
4-73175224-T-C p.Asp690Gly missense ADAMTS3 1 83092 1.20349E-5 41546 0 8.26405E-6
4-73175245-G-A c.2056-8C>T splice_region ADAMTS3 1 83000 1.20482E-5 41500 0 NA
4-73176769-C-T p.Cys684Tyr missense ADAMTS3 2 81826 2.44421E-5 40913 0 NA
4-73176775-C-T p.Gly682Glu missense ADAMTS3 1 82180 1.21684E-5 41090 0 NA
4-73176778-C-T p.Arg681Gln missense ADAMTS3 3 82186 3.65026E-5 41093 0 3.18471E-5
4-73176807-A-G p.Ser671Ser synonymous ADAMTS3 2 82498 2.4243E-5 41249 0 NA
4-73176816-C-T p.Thr668Thr synonymous ADAMTS3 35 82546 4.24006E-4 41273 0 6.25E-4
4-73176816-C-A p.Thr668Thr synonymous ADAMTS3 1 82548 1.21142E-5 41274 0 NA
4-73176817-G-T p.Thr668Lys missense ADAMTS3 1 82546 1.21145E-5 41273 0 NA
4-73176817-G-A p.Thr668Met missense ADAMTS3 4 82546 4.84578E-5 41273 0 3.18674E-5
4-73176822-A-G p.Asp666Asp synonymous ADAMTS3 4 82602 4.8425E-5 41301 0 5.41505E-4
4-73176826-T-C p.His665Arg missense ADAMTS3 2 82596 2.42142E-5 41298 0 NA
4-73176828-C-T p.Val664Val synonymous ADAMTS3 1 82586 1.21086E-5 41293 0 NA
4-73176843-G-A p.Tyr659Tyr synonymous ADAMTS3 10 82626 1.21027E-4 41313 0 1.51619E-4
4-73176847-G-A p.Ala658Val missense ADAMTS3 1 82630 1.21021E-5 41315 0 8.26228E-6
4-73176870-C-A p.Gln650His missense ADAMTS3 1 82652 1.20989E-5 41326 0 NA
4-73176877-T-A p.Tyr648Phe missense ADAMTS3 1 82612 1.21048E-5 41306 0 4.00186E-6
4-73176895-T-G p.Lys642Thr missense ADAMTS3 1 82538 1.21156E-5 41269 0 NA
4-73178014-G-A p.Pro639Ser missense ADAMTS3 1 83056 1.20401E-5 41528 0 3.98438E-6
4-73178016-T-C p.His638Arg missense ADAMTS3 1 83070 1.2038E-5 41535 0 NA
4-73178024-T-G p.Pro635Pro synonymous ADAMTS3 1 83122 1.20305E-5 41561 0 NA
4-73178026-G-A p.Pro635Ser missense ADAMTS3 2 83106 2.40657E-5 41553 0 8.25001E-6
4-73178029-A-T p.Leu634Met missense ADAMTS3 7 83110 8.42257E-5 41555 0 9.07351E-5
4-73178033-G-A p.His632His synonymous ADAMTS3 5 83156 6.0128E-5 41578 0 8.24729E-6
4-73178033-G-GTGGTGTTTGGTATTC p.Gln627_His631dup disruptive_inframe_insertion ADAMTS3 1 83156 1.20256E-5 41578 0 NA
4-73178063-G-C p.Ser622Ser synonymous ADAMTS3 1 83194 1.20201E-5 41597 0 6.37024E-5
4-73178065-A-G p.Ser622Pro missense ADAMTS3 1 83190 1.20207E-5 41595 0 8.24729E-6
4-73178070-C-T p.Arg620Gln missense ADAMTS3 2 83182 2.40437E-5 41591 0 0.00100705
4-73178071-G-T p.Arg620Arg synonymous ADAMTS3 1 83152 1.20262E-5 41576 0 2.47451E-5
4-73178081-C-A p.Gln616His missense ADAMTS3 2 83164 2.40489E-5 41582 0 1.27405E-4
4-73178103-A-G p.Phe609Ser missense ADAMTS3 2 83120 2.40616E-5 41560 0 3.18552E-5
4-73178105-G-A p.His608His synonymous ADAMTS3 2 83114 2.40633E-5 41557 0 NA
4-73178148-T-A p.Asn594Ile missense ADAMTS3 1 82770 1.20817E-5 41385 0 NA
4-73178156-A-G p.Pro591Pro synonymous ADAMTS3 1 82716 1.20896E-5 41358 0 2.48451E-5
4-73178165-C-A p.Gln588His missense ADAMTS3 7 82646 8.46986E-5 41323 0 2.54842E-4
4-73178175-T-C p.Asn585Ser missense ADAMTS3 1217 82542 0.014744 41271 6 0.0125
4-73178179-T-C p.Ile584Val missense ADAMTS3 2 82538 2.42313E-5 41269 0 8.36624E-6
4-73178186-A-C c.1746-3T>G splice_region ADAMTS3 1 82450 1.21286E-5 41225 0 NA
4-73178188-A-C c.1746-5T>G splice_region ADAMTS3 44 82406 5.33942E-4 41203 0 0.00131033
4-73179394-A-G p.Met582Thr missense+splice_region ADAMTS3 1 82672 1.2096E-5 41336 0 NA
4-73179395-T-A p.Met582Leu missense+splice_region ADAMTS3 1 82664 1.20972E-5 41332 0 3.99751E-6
4-73179396-G-A p.Pro581Pro splice_region+synonymous ADAMTS3 4 82666 4.83875E-5 41333 0 1.59236E-4
4-73179412-C-T p.Arg576His missense ADAMTS3 4 82722 4.83547E-5 41361 0 2.22987E-4
4-73179413-G-A p.Arg576Cys missense ADAMTS3 1 82726 1.20881E-5 41363 0 3.18573E-5
4-73179424-C-T p.Arg572His missense ADAMTS3 5 82768 6.04098E-5 41384 0 6.37064E-5
4-73179425-G-A p.Arg572Cys missense ADAMTS3 19 82764 2.29568E-4 41382 0 1.75622E-4
4-73179432-A-T p.Thr569Thr synonymous ADAMTS3 1 82786 1.20793E-5 41393 0 NA
4-73179433-G-A p.Thr569Ile missense ADAMTS3 4 82792 4.83138E-5 41396 0 3.18451E-5
4-73179439-C-T p.Cys567Tyr missense ADAMTS3 1 82804 1.20767E-5 41402 0 8.29518E-6
4-73179440-A-G p.Cys567Arg missense ADAMTS3 3 82810 3.62275E-5 41405 0 8.29352E-6
4-73179442-G-A p.Thr566Ile missense ADAMTS3 4 82802 4.8308E-5 41401 0 9.95025E-5
4-73179445-C-T p.Arg565Gln missense ADAMTS3 221 82802 0.00266902 41401 1 0.0022927
4-73179446-G-A p.Arg565Trp missense ADAMTS3 6 82814 7.24515E-5 41407 0 5.58401E-5
4-73179462-T-C p.Lys559Lys synonymous ADAMTS3 10 82876 1.20662E-4 41438 0 5.03525E-4
4-73179466-G-A p.Thr558Ile missense ADAMTS3 10 82900 1.20627E-4 41450 0 6.36983E-5
4-73179471-T-G p.Ser556Ser synonymous ADAMTS3 7 82912 8.44269E-5 41456 0 4.13934E-4
4-73179472-G-A p.Ser556Leu missense ADAMTS3 1 82914 1.20607E-5 41457 0 NA
4-73179474-C-T p.Gly555Gly synonymous ADAMTS3 2 82920 2.41196E-5 41460 0 7.97118E-6
4-73179474-C-G p.Gly555Gly synonymous ADAMTS3 1 82920 1.20598E-5 41460 0 NA
4-73179481-T-C p.Asn553Ser missense ADAMTS3 3 82904 3.61864E-5 41452 0 2.47864E-5
4-73179483-G-A p.Gly552Gly synonymous ADAMTS3 1 82896 1.20633E-5 41448 0 NA
4-73179500-G-GATT p.Asn546dup conservative_inframe_insertion ADAMTS3 2 82846 2.41412E-5 41423 0 3.98508E-6
4-73179502-T-C p.Asn546Ser missense ADAMTS3 1 82844 1.20709E-5 41422 0 3.18492E-5
4-73179503-T-G p.Asn546His missense ADAMTS3 1 82844 1.20709E-5 41422 0 3.30322E-5
4-73179512-T-G p.Lys543Gln missense ADAMTS3 1 82798 1.20776E-5 41399 0 NA
4-73179518-T-G p.Met541Leu missense ADAMTS3 2 82764 2.41651E-5 41382 0 NA
4-73179522-A-G p.His539His synonymous ADAMTS3 1 82714 1.20899E-5 41357 0 NA
4-73179531-A-T p.Tyr536* stop_gained ADAMTS3 1 82610 1.21051E-5 41305 0 3.98912E-6
4-73179536-ACCACT-A p.Trp534_Cys535del splice_acceptor ADAMTS3 1 82526 1.21174E-5 41263 0 3.99198E-6
4-73179539-A-G p.Trp534Arg missense+splice_region ADAMTS3 1 82460 1.21271E-5 41230 0 NA
4-73179542-T-G c.1600-3A>C splice_region ADAMTS3 1 82400 1.21359E-5 41200 0 3.9947E-6
4-73181568-T-C c.1599+7A>G splice_region ADAMTS3 1 82696 1.20925E-5 41348 0 3.39409E-5
4-73181586-C-T p.Ala530Thr missense ADAMTS3 5 82736 6.04332E-5 41368 0 NA
4-73181622-T-C p.Thr518Ala missense ADAMTS3 1 82804 1.20767E-5 41402 0 NA
4-73181637-G-T p.Pro513Thr missense ADAMTS3 1266 82764 0.0152965 41382 14 0.0169481
4-73181643-C-G p.Asp511His missense ADAMTS3 2 82816 2.41499E-5 41408 0 NA
4-73181643-C-T p.Asp511Asn missense ADAMTS3 1 82816 1.2075E-5 41408 0 NA
4-73181649-G-A p.His509Tyr missense ADAMTS3 1 82794 1.20782E-5 41397 0 6.36862E-5
4-73181672-G-A p.Pro501Leu missense ADAMTS3 5 82658 6.04902E-5 41329 0 4.05433E-6
4-73181681-G-T p.Thr498Asn missense ADAMTS3 3 82574 3.63311E-5 41287 0 3.18512E-5
4-73181684-C-T p.Arg497Gln missense ADAMTS3 4 82504 4.84825E-5 41252 0 5.00075E-5
4-73181684-C-G p.Arg497Pro missense ADAMTS3 2 82504 2.42412E-5 41252 0 NA
4-73181685-G-A p.Arg497* stop_gained ADAMTS3 1 82486 1.21233E-5 41243 0 8.34627E-6
4-73181695-G-A c.1486-7C>T splice_region ADAMTS3 1 82298 1.2151E-5 41149 0 NA
4-73184290-G-A p.Ala495Val missense+splice_region ADAMTS3 2 82696 2.4185E-5 41348 0 2.79651E-5
4-73184292-G-A p.Thr494Thr synonymous ADAMTS3 2 82708 2.41815E-5 41354 0 1.19878E-5
4-73184326-C-A p.Arg483Leu missense ADAMTS3 3 82786 3.6238E-5 41393 0 3.9888E-6
4-73184379-C-A p.Trp465Cys missense ADAMTS3 1 82822 1.20741E-5 41411 0 NA
4-73184385-A-T p.His463Gln missense ADAMTS3 1 82846 1.20706E-5 41423 0 8.28418E-6
4-73184388-A-T p.Asp462Glu missense ADAMTS3 1 82842 1.20712E-5 41421 0 NA
4-73184388-A-G p.Asp462Asp synonymous ADAMTS3 1 82842 1.20712E-5 41421 0 2.48583E-5
4-73184394-A-T p.Pro460Pro synonymous ADAMTS3 2 82836 2.41441E-5 41418 0 NA
4-73184395-G-A p.Pro460Leu missense ADAMTS3 2 82834 2.41447E-5 41417 0 2.48868E-5
4-73184425-T-C c.1353-4A>G splice_region ADAMTS3 1 82752 1.20843E-5 41376 0 3.18756E-5
4-73184427-G-A c.1353-6C>T splice_region ADAMTS3 1 82748 1.20849E-5 41374 0 2.03611E-5
4-73185043-A-G c.1352+6T>C splice_region ADAMTS3 2 82938 2.41144E-5 41469 0 6.36943E-5
4-73185051-G-T p.Ile450Ile splice_region+synonymous ADAMTS3 1 83024 1.20447E-5 41512 0 6.37105E-5
4-73185054-A-G p.Tyr449Tyr synonymous ADAMTS3 196 83006 0.00236128 41503 1 0.0025
4-73185074-C-T p.Gly443Ser missense ADAMTS3 1 83110 1.20322E-5 41555 0 2.47492E-5
4-73185082-C-T p.Arg440Gln missense ADAMTS3 1 83134 1.20288E-5 41567 0 0.00100705
4-73185097-C-T p.Arg435His missense ADAMTS3 6 83158 7.21518E-5 41579 0 4.95074E-5
4-73185098-G-A p.Arg435Cys missense ADAMTS3 1 83164 1.20244E-5 41582 0 4.95115E-5
4-73185112-T-A p.Gln430Leu missense ADAMTS3 1 83152 1.20262E-5 41576 0 NA
4-73185119-A-G p.Leu428Leu synonymous ADAMTS3 1137 83130 0.0136774 41565 35 0.0286415
4-73185140-T-A p.Met421Leu missense ADAMTS3 1 83104 1.20331E-5 41552 0 NA
4-73185147-C-T p.Glu418Glu synonymous ADAMTS3 1099 83084 0.0132276 41542 47 0.0278149
4-73185159-C-T p.Arg414Arg synonymous ADAMTS3 11 83072 1.32415E-4 41536 0 2.23001E-4
4-73185180-C-T p.Glu407Glu synonymous ADAMTS3 5 83024 6.02235E-5 41512 0 2.48287E-5
4-73185182-C-G p.Glu407Gln missense ADAMTS3 2 83008 2.40941E-5 41504 0 NA
4-73185583-C-T p.Thr400Thr synonymous ADAMTS3 1 82880 1.20656E-5 41440 0 2.49705E-5
4-73185600-C-T p.Val395Ile missense ADAMTS3 73 82978 8.79751E-4 41489 2 6.05669E-4
4-73185622-C-T p.Glu387Glu synonymous ADAMTS3 1 83034 1.20433E-5 41517 0 8.26966E-6
4-73185635-G-A p.Thr383Ile missense ADAMTS3 1 83028 1.20441E-5 41514 0 NA
4-73185654-G-A p.His377Tyr missense ADAMTS3 1 82992 1.20494E-5 41496 0 NA
4-73185663-C-T p.Gly374Ser missense ADAMTS3 2 82986 2.41005E-5 41493 0 7.4591E-5
4-73185664-G-A p.Thr373Thr synonymous ADAMTS3 2 82988 2.40999E-5 41494 0 1.65865E-5
4-73185672-G-A p.Pro371Ser missense ADAMTS3 6 82962 7.23223E-5 41481 0 3.32723E-5
4-73186428-T-C c.1102+3A>G splice_region ADAMTS3 1 83052 1.20406E-5 41526 0 NA
4-73186435-C-T p.Met366Ile missense ADAMTS3 2 83074 2.40749E-5 41537 0 1.65338E-5
4-73186443-C-T p.Ala364Thr missense ADAMTS3 1 83112 1.2032E-5 41556 0 1.65158E-5
4-73186450-A-G p.Phe361Phe synonymous ADAMTS3 1 83146 1.2027E-5 41573 0 NA
4-73186462-G-C p.Thr357Thr synonymous ADAMTS3 71 83184 8.5353E-4 41592 0 0.0012751
4-73186516-C-T p.Gln339Gln synonymous ADAMTS3 8 83168 9.61908E-5 41584 0 6.25E-4
4-73186519-T-C p.Gln338Gln synonymous ADAMTS3 1 83162 1.20247E-5 41581 0 7.96451E-6
4-73186523-G-GCAGAAGAAAATGGTAACCCCAGGCCATTCCTTCCCTT p.Ser337fs frameshift ADAMTS3 1 83160 1.2025E-5 41580 0 NA
4-73186525-C-T p.Ala336Ala synonymous ADAMTS3 15 83146 1.80406E-4 41573 0 2.54826E-4
4-73186526-G-A p.Ala336Val missense ADAMTS3 18 83124 2.16544E-4 41562 0 1.63301E-4
4-73186527-C-T p.Ala336Thr missense ADAMTS3 1 83128 1.20296E-5 41564 0 NA
4-73186532-C-T p.Arg334His missense ADAMTS3 5 83114 6.01583E-5 41557 0 0.00125
4-73186533-G-A p.Arg334Cys missense ADAMTS3 1 83116 1.20314E-5 41558 0 3.18512E-5
4-73186545-C-T p.Glu330Lys missense ADAMTS3 1 83082 1.20363E-5 41541 0 3.18593E-5
4-73186550-C-T p.Ser328Asn missense ADAMTS3 1 83068 1.20383E-5 41534 0 3.18532E-5
4-73186584-T-C p.Ile317Val missense ADAMTS3 1 82942 1.20566E-5 41471 0 2.48242E-5
4-73186585-G-A p.Ser316Ser splice_region+synonymous ADAMTS3 1 82936 1.20575E-5 41468 0 NA
4-73188724-A-G c.945+7T>C splice_region ADAMTS3 2 82458 2.42548E-5 41229 0 NA
4-73188737-A-G p.Tyr313Tyr synonymous ADAMTS3 1 82492 1.21224E-5 41246 0 6.37105E-5
4-73188738-T-C p.Tyr313Cys missense ADAMTS3 1 82504 1.21206E-5 41252 0 1.59593E-5
4-73188754-T-C p.Met308Val missense ADAMTS3 1 82492 1.21224E-5 41246 0 1.65E-5
4-73188756-C-T p.Arg307His missense ADAMTS3 3 82482 3.63716E-5 41241 0 7.18001E-5
4-73188756-C-A p.Arg307Leu missense ADAMTS3 1 82482 1.21239E-5 41241 0 3.18573E-5
4-73188781-C-T p.Val299Met missense ADAMTS3 1 82436 1.21306E-5 41218 0 3.18573E-5
4-73188784-C-T p.Gly298Arg missense ADAMTS3 44 82388 5.34058E-4 41194 0 8.60311E-4
4-73188785-G-A p.Leu297Leu synonymous ADAMTS3 1 82388 1.21377E-5 41194 0 6.25E-4
4-73188787-G-A p.Leu297Phe missense ADAMTS3 1 82400 1.21359E-5 41200 0 NA
4-73188789-G-T p.Ser296Tyr missense ADAMTS3 1 82380 1.21389E-5 41190 0 NA
4-73188817-A-C c.862-3T>G splice_region ADAMTS3 1 82210 1.2164E-5 41105 0 NA
4-73188818-GC-AA c.862-5_862-4delGCinsTT splice_region ADAMTS3 51 82194 6.20483E-4 41097 0 NA
4-73188818-G-A c.862-4C>T splice_region ADAMTS3 1 82196 1.2166E-5 41098 0 0.010625
4-73188819-C-A c.862-5G>T splice_region ADAMTS3 1 82172 1.21696E-5 41086 0 0.010625
4-73205210-C-A c.861+1G>T splice_donor ADAMTS3 1 82496 1.21218E-5 41248 0 NA
4-73205212-A-G p.Ile287Thr missense+splice_region ADAMTS3 1 82508 1.212E-5 41254 0 3.18471E-5
4-73205243-C-T p.Val277Ile missense ADAMTS3 4 82578 4.84391E-5 41289 0 6.7755E-5
4-73205253-G-T p.Gly273Gly synonymous ADAMTS3 1536 82590 0.0185979 41295 86 0.0374514
4-73205254-C-G p.Gly273Ala missense ADAMTS3 1 82608 1.21054E-5 41304 0 3.98495E-6
4-73205256-A-G p.His272His synonymous ADAMTS3 1 82622 1.21033E-5 41311 0 1.64785E-5
4-73205263-C-T p.Arg270His missense ADAMTS3 14 82630 1.6943E-4 41315 0 7.97035E-5
4-73205272-G-A p.Ser267Phe missense ADAMTS3 2 82654 2.41973E-5 41327 0 NA
4-73205282-C-T p.Val264Met missense ADAMTS3 1 82696 1.20925E-5 41348 0 NA
4-73205297-C-T p.Glu259Lys missense ADAMTS3 2 82692 2.41861E-5 41346 0 6.25E-4
4-73205308-T-C p.Asp255Gly missense ADAMTS3 2 82682 2.41891E-5 41341 0 1.64802E-5
4-73205310-G-A p.Asn254Asn synonymous ADAMTS3 1 82678 1.20951E-5 41339 0 3.18532E-5
4-73205319-C-T p.Ala251Ala synonymous ADAMTS3 4 82656 4.83933E-5 41328 0 3.29625E-5
4-73205320-G-A p.Ala251Val missense ADAMTS3 3 82646 3.62994E-5 41323 0 3.2963E-5
4-73205320-G-T p.Ala251Glu missense ADAMTS3 1 82646 1.20998E-5 41323 0 1.64815E-5
4-73205329-C-T p.Arg248His missense ADAMTS3 8 82604 9.68476E-5 41302 0 1.27421E-4
4-73205330-G-A p.Arg248Cys missense ADAMTS3 3 82580 3.63284E-5 41290 0 4.78316E-5
4-73205331-G-A p.Arg247Arg synonymous ADAMTS3 1 82578 1.21098E-5 41289 0 NA
4-73205332-C-T p.Arg247His missense ADAMTS3 2 82578 2.42195E-5 41289 0 6.25E-4
4-73205333-G-A p.Arg247Cys missense ADAMTS3 1 82568 1.21112E-5 41284 0 1.19568E-5
4-73205339-T-C p.Met245Val missense ADAMTS3 1 82590 1.2108E-5 41295 0 8.24185E-6
4-73205358-G-A p.His238His synonymous ADAMTS3 1 82482 1.21239E-5 41241 0 6.37349E-5
4-73205382-T-C p.Leu230Leu synonymous ADAMTS3 1 82424 1.21324E-5 41212 0 NA
4-73205387-C-T p.Asp229Asn missense ADAMTS3 3 82414 3.64016E-5 41207 0 4.95205E-5
4-73205387-C-G p.Asp229His missense ADAMTS3 1 82414 1.21339E-5 41207 0 NA
4-73205398-T-C p.Glu225Gly missense ADAMTS3 1 82372 1.214E-5 41186 0 NA
4-73205401-A-G p.Leu224Pro missense ADAMTS3 1 82340 1.21448E-5 41170 0 NA
4-73205406-C-T p.Ser222Ser synonymous ADAMTS3 1 82288 1.21524E-5 41144 0 3.59396E-5
4-73205407-G-A p.Ser222Leu missense ADAMTS3 8 82280 9.7229E-5 41140 0 1.40512E-4
4-73205414-A-G c.662-4T>C splice_region ADAMTS3 1 82230 1.2161E-5 41115 0 6.36902E-5
4-73280525-C-T c.661+7G>A splice_region ADAMTS3 218 77798 0.00280213 38899 3 0.00631015
4-73280526-G-A c.661+6C>T splice_region ADAMTS3 6 77860 7.70614E-5 38930 0 3.18939E-5
4-73280538-A-G p.Tyr219His missense ADAMTS3 41 78688 5.21045E-4 39344 1 0.00167266
4-73280556-T-C p.Met213Val missense ADAMTS3 20 80080 2.4975E-4 40040 0 0.00906344
4-73280560-T-C p.Ile211Met missense ADAMTS3 1 80812 1.23744E-5 40406 0 2.05078E-5
4-73280568-C-A p.Ala209Ser missense ADAMTS3 2 80974 2.46993E-5 40487 0 NA
4-73280572-T-C p.Glu207Glu synonymous ADAMTS3 1 81564 1.22603E-5 40782 0 4.71032E-6
4-73280581-T-C p.Ser204Ser synonymous ADAMTS3 1 81536 1.22645E-5 40768 0 NA
4-73280583-A-C p.Ser204Ala missense ADAMTS3 27 81528 3.31175E-4 40764 0 2.02187E-4
4-73280585-C-T p.Arg203Lys missense ADAMTS3 1 81614 1.22528E-5 40807 0 NA
4-73280588-T-C p.Lys202Arg missense ADAMTS3 1 82032 1.21904E-5 41016 0 NA
4-73280591-T-C p.Tyr201Cys missense ADAMTS3 1 82090 1.21818E-5 41045 0 6.3743E-5
4-73280593-G-A p.Val200Val synonymous ADAMTS3 1 82100 1.21803E-5 41050 0 4.45426E-6
4-73280599-A-G p.His198His synonymous ADAMTS3 1 82238 1.21598E-5 41119 0 8.36344E-6
4-73280626-C-A p.Gln189His missense ADAMTS3 1 82246 1.21586E-5 41123 0 NA
4-73280634-C-G p.Gly187Arg missense ADAMTS3 1 82260 1.21566E-5 41130 0 4.42968E-6
4-73280639-T-C p.Glu185Gly missense ADAMTS3 2 82130 2.43516E-5 41065 0 8.39067E-6
4-73280644-G-A p.Pro183Pro synonymous ADAMTS3 1 82082 1.21829E-5 41041 0 3.18878E-5
4-73280651-A-G p.Ile181Thr missense ADAMTS3 1 81944 1.22035E-5 40972 0 NA
4-73280652-T-G p.Ile181Leu missense ADAMTS3 3 81958 3.66041E-5 40979 0 8.4717E-6
4-73280652-T-C p.Ile181Val missense ADAMTS3 1 81958 1.22014E-5 40979 0 8.4717E-6
4-73280662-T-G p.Glu177Asp missense ADAMTS3 5 81450 6.13874E-5 40725 0 1.51854E-5
4-73280677-T-C p.Ile172Met missense ADAMTS3 2 80984 2.46962E-5 40492 0 8.65831E-6
4-73280683-T-C p.Gly170Gly synonymous ADAMTS3 1 80628 1.24026E-5 40314 0 1.6683E-5
4-73414197-G-C p.Leu168Val missense+splice_region ADAMTS3 1 83068 1.20383E-5 41534 0 3.9896E-6
4-73414197-G-A p.Leu168Leu splice_region+synonymous ADAMTS3 2 83068 2.40767E-5 41534 0 NA
4-73414238-T-C p.Asp154Gly missense ADAMTS3 1 83234 1.20143E-5 41617 0 NA
4-73414242-C-T p.Val153Met missense ADAMTS3 1 83246 1.20126E-5 41623 0 9.55536E-5
4-73414270-C-T p.Gln143Gln synonymous ADAMTS3 1 83298 1.20051E-5 41649 0 0.00100705
4-73414273-C-A p.Leu142Phe missense ADAMTS3 3 83306 3.60118E-5 41653 0 3.29544E-5
4-73414276-A-G p.Pro141Pro synonymous ADAMTS3 1 83306 1.20039E-5 41653 0 NA
4-73414278-G-C p.Pro141Ala missense ADAMTS3 1 83300 1.20048E-5 41650 0 3.18573E-5
4-73414286-C-T p.Arg138Lys missense ADAMTS3 52577 82366 0.638334 41183 16966 0.660849
4-73414289-C-T p.Arg137Gln missense ADAMTS3 6 83326 7.20063E-5 41663 0 1.75024E-4
4-73414290-G-A p.Arg137Trp missense ADAMTS3 7 83332 8.40013E-5 41666 0 7.41375E-5
4-73414296-T-C p.Arg135Gly missense ADAMTS3 1 83330 1.20005E-5 41665 0 NA
4-73414300-C-A p.Thr133Thr synonymous ADAMTS3 7 83330 8.40034E-5 41665 0 1.59098E-5
4-73414300-C-T p.Thr133Thr synonymous ADAMTS3 11 83328 1.32008E-4 41664 0 0.00100705
4-73414301-G-A p.Thr133Met missense ADAMTS3 4 83330 4.80019E-5 41665 0 8.23723E-5
4-73414333-A-T p.Asp122Glu missense ADAMTS3 1 83336 1.19996E-5 41668 0 1.27453E-4
4-73414335-C-T p.Asp122Asn missense ADAMTS3 2 83328 2.40015E-5 41664 0 1.19335E-5
4-73414336-G-A p.Thr121Thr synonymous ADAMTS3 12 83334 1.43999E-4 41667 0 6.25E-4
4-73414358-G-C p.Ser114Cys missense ADAMTS3 1 83340 1.1999E-5 41670 0 3.97807E-6
4-73414359-A-G p.Ser114Pro missense ADAMTS3 2 83336 2.39992E-5 41668 0 9.55536E-5
4-73414368-G-A p.His111Tyr missense ADAMTS3 32 83334 3.83997E-4 41667 1 0.00168106
4-73414396-T-A p.Leu101Leu synonymous ADAMTS3 1 83306 1.20039E-5 41653 0 NA
4-73414399-T-C p.Gln100Gln synonymous ADAMTS3 1 83308 1.20036E-5 41654 0 1.19373E-5
4-73414404-T-G p.Thr99Pro missense ADAMTS3 6 83306 7.20236E-5 41653 0 9.55475E-5
4-73414406-T-C p.Asn98Ser missense ADAMTS3 17 83296 2.04091E-4 41648 0 1.75077E-4
4-73414418-C-T p.Arg94Gln missense ADAMTS3 5 83270 6.00456E-5 41635 0 1.91034E-4
4-73414445-G-A p.Thr85Met missense ADAMTS3 3 83164 3.60733E-5 41582 0 5.03525E-4
4-73414468-A-T p.Pro77Pro synonymous ADAMTS3 1 83020 1.20453E-5 41510 0 4.94788E-5
4-73414482-C-T p.Val73Met missense ADAMTS3 6 82902 7.23746E-5 41451 0 9.16357E-5
4-73414489-C-T p.Ala70Ala synonymous ADAMTS3 1 82836 1.2072E-5 41418 0 1.65019E-5
4-73414490-G-A p.Ala70Val missense ADAMTS3 2 82786 2.41587E-5 41393 0 6.37024E-5
4-73414491-C-T p.Ala70Thr missense ADAMTS3 1 82774 1.20811E-5 41387 0 8.25042E-6
4-73414503-T-C p.Lys66Glu missense ADAMTS3 4 82688 4.83746E-5 41344 0 3.98597E-6
4-73414510-C-T p.Ala63Ala synonymous ADAMTS3 2 82616 2.42084E-5 41308 0 3.58803E-5
4-73414511-G-A p.Ala63Val missense ADAMTS3 3 82608 3.63161E-5 41304 0 3.18695E-5
4-73414529-A-G p.Leu57Pro missense ADAMTS3 4 82498 4.8486E-5 41249 0 3.98765E-6
4-73414536-G-A p.Arg55Cys missense ADAMTS3 1 82458 1.21274E-5 41229 0 5.1854E-5
4-73414543-T-C p.Leu52Leu synonymous ADAMTS3 20 82542 2.42301E-4 41271 0 0.00100705
4-73414548-T-C p.Asn51Asp missense ADAMTS3 1 82528 1.21171E-5 41264 0 NA
4-73414551-T-C p.Thr50Ala missense ADAMTS3 6 82558 7.26762E-5 41279 0 5.58476E-5
4-73414553-C-G p.Ser49Thr missense ADAMTS3 2 82556 2.4226E-5 41278 0 1.9952E-5
4-73414554-T-G p.Ser49Arg missense ADAMTS3 2 82576 2.42201E-5 41288 0 NA
4-73414557-C-A p.Val48Phe missense ADAMTS3 1 82594 1.21074E-5 41297 0 3.99084E-6
4-73414570-C-T p.Glu43Glu synonymous ADAMTS3 1 82726 1.20881E-5 41363 0 8.32986E-6
4-73414575-A-G p.Tyr42His missense ADAMTS3 2 82762 2.41657E-5 41381 0 NA
4-73414582-A-G p.Tyr39Tyr synonymous ADAMTS3 2 82862 2.41365E-5 41431 0 8.38785E-6
4-73414590-T-C p.Lys37Glu missense ADAMTS3 1 82880 1.20656E-5 41440 0 NA
4-73414594-T-C p.Pro35Pro synonymous ADAMTS3 1 82876 1.20662E-5 41438 0 4.04672E-6
4-73433090-C-T c.97+1G>A splice_donor ADAMTS3 1 82518 1.21186E-5 41259 0 NA
4-73433109-C-T p.Glu27Lys missense ADAMTS3 1 82514 1.21192E-5 41257 0 NA
4-73433114-C-A p.Gly25Val missense ADAMTS3 17 82474 2.06126E-4 41237 0 3.17486E-4
4-73433122-GA-G c.70-5delT splice_region ADAMTS3 43620 82134 0.531083 41067 11887 0.517747
4-73434413-GTCC-G p.Gly22del conservative_inframe_deletion ADAMTS3 2 82550 2.42277E-5 41275 0 NA
4-73434421-G-A p.Ala20Val missense ADAMTS3 2 82654 2.41973E-5 41327 0 8.27568E-6
4-73434423-T-C p.Ser19Ser synonymous ADAMTS3 21 82666 2.54034E-4 41333 0 0.00100705
4-73434425-A-C p.Ser19Ala missense ADAMTS3 2 82692 2.41861E-5 41346 0 6.38651E-5
4-73434432-A-C p.Val16Val synonymous ADAMTS3 2 82728 2.41756E-5 41364 1 NA
4-73434437-C-T p.Glu15Lys missense ADAMTS3 2 82762 2.41657E-5 41381 0 7.95393E-6
4-73434447-GGCT-G p.Ala11del disruptive_inframe_deletion ADAMTS3 1 82710 1.20904E-5 41355 0 NA
4-73434460-C-T p.Trp7* stop_gained ADAMTS3 1 82690 1.20934E-5 41345 0 3.97681E-6
4-73434470-G-T p.Leu4Met missense ADAMTS3 2 82588 2.42166E-5 41294 0 NA