Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-178540879-C-T p.Gly1209Arg missense ADAMTS2 7 83366 8.39671E-5 41683 0 1.5907E-5
5-178540880-G-A p.Leu1208Leu synonymous ADAMTS2 11 83362 1.31955E-4 41681 0 2.22916E-4
5-178540885-T-C p.Met1207Val missense ADAMTS2 1 83374 1.19941E-5 41687 0 NA
5-178540889-T-C p.Lys1205Lys synonymous ADAMTS2 1 83378 1.19936E-5 41689 0 NA
5-178540896-C-T p.Arg1203Gln missense ADAMTS2 3 83390 3.59755E-5 41695 0 1.19294E-5
5-178540897-G-A p.Arg1203Trp missense ADAMTS2 1 83392 1.19916E-5 41696 0 6.37024E-5
5-178540900-T-A p.Met1202Leu missense ADAMTS2 2 83392 2.39831E-5 41696 0 1.19289E-5
5-178540907-A-G p.Ile1199Ile synonymous ADAMTS2 1 83394 1.19913E-5 41697 0 NA
5-178540908-A-G p.Ile1199Thr missense ADAMTS2 1 83394 1.19913E-5 41697 0 8.23696E-6
5-178540923-C-T p.Arg1194Lys missense ADAMTS2 1 83404 1.19898E-5 41702 0 NA
5-178540936-T-C p.Thr1190Ala missense ADAMTS2 1 83404 1.19898E-5 41702 0 8.23655E-6
5-178540944-T-C p.Tyr1187Cys missense ADAMTS2 2 83400 2.39808E-5 41700 0 8.23655E-6
5-178540952-C-T p.Pro1184Pro synonymous ADAMTS2 4 83408 4.7957E-5 41704 0 1.59215E-4
5-178540953-G-A p.Pro1184Leu missense ADAMTS2 44 83410 5.27515E-4 41705 0 2.34598E-4
5-178540953-G-T p.Pro1184Gln missense ADAMTS2 1 83410 1.1989E-5 41705 0 3.18593E-5
5-178540956-C-T p.Arg1183Gln missense ADAMTS2 1 83412 1.19887E-5 41706 0 2.0591E-4
5-178540956-C-A p.Arg1183Leu missense ADAMTS2 1 83412 1.19887E-5 41706 0 8.23642E-6
5-178540957-G-A p.Arg1183* stop_gained ADAMTS2 1 83412 1.19887E-5 41706 0 4.94185E-5
5-178540959-C-T p.Arg1182Gln missense ADAMTS2 14 83410 1.67846E-4 41705 0 1.31787E-4
5-178540960-G-A p.Arg1182* stop_gained ADAMTS2 6 83410 7.19338E-5 41705 0 0.00125
5-178540962-G-C p.Pro1181Arg missense ADAMTS2 1 83414 1.19884E-5 41707 0 NA
5-178540974-G-A p.Pro1177Leu missense ADAMTS2 5 83420 5.99377E-5 41710 0 1.90858E-4
5-178540975-G-A p.Pro1177Ser missense ADAMTS2 23636 83228 0.283991 41614 3665 0.308062
5-178540978-G-A p.Pro1176Ser missense ADAMTS2 1 83414 1.19884E-5 41707 0 8.23642E-6
5-178540980-T-C p.Gln1175Arg missense ADAMTS2 1 83420 1.19875E-5 41710 0 NA
5-178540984-C-T p.Val1174Ile missense ADAMTS2 1 83414 1.19884E-5 41707 0 NA
5-178540990-C-A p.Asp1172Tyr missense ADAMTS2 1 83414 1.19884E-5 41707 0 NA
5-178540998-C-A p.Gly1169Val missense ADAMTS2 35 83412 4.19604E-4 41706 1 0.00140261
5-178541001-T-C p.His1168Arg missense ADAMTS2 2 83416 2.39762E-5 41708 0 3.18796E-5
5-178541001-T-G p.His1168Pro missense ADAMTS2 4 83416 4.79524E-5 41708 0 1.19286E-5
5-178541014-G-A p.Pro1164Ser missense ADAMTS2 1 83424 1.1987E-5 41712 0 6.37186E-5
5-178541023-C-T p.Val1161Ile missense ADAMTS2 3 83420 3.59626E-5 41710 0 5.03525E-4
5-178541024-G-T p.Ala1160Ala synonymous ADAMTS2 318 83420 0.00381204 41710 3 0.010128
5-178541024-G-A p.Ala1160Ala synonymous ADAMTS2 1 83422 1.19872E-5 41711 0 1.59048E-5
5-178541043-T-C p.Asp1154Gly missense ADAMTS2 1 83420 1.19875E-5 41710 0 3.18573E-5
5-178541049-G-A p.Thr1152Ile missense ADAMTS2 1 83412 1.19887E-5 41706 0 3.97621E-6
5-178541055-T-C p.Asn1150Ser missense ADAMTS2 17 83410 2.03812E-4 41705 0 5.03525E-4
5-178541056-T-G p.Asn1150His missense ADAMTS2 1 83410 1.1989E-5 41705 0 3.97621E-6
5-178541064-G-C p.Ser1147Cys missense ADAMTS2 1 83404 1.19898E-5 41702 0 NA
5-178541079-A-T p.Val1142Asp missense ADAMTS2 1 83404 1.19898E-5 41702 0 1.64728E-5
5-178541081-C-T p.Glu1141Glu synonymous ADAMTS2 4 83408 4.7957E-5 41704 0 1.59051E-5
5-178541092-T-C p.Thr1138Ala missense ADAMTS2 1 83404 1.19898E-5 41702 0 NA
5-178541097-G-C p.Pro1136Arg missense ADAMTS2 1 83402 1.19901E-5 41701 0 1.591E-5
5-178541105-C-A p.Arg1133Arg synonymous ADAMTS2 1 83396 1.1991E-5 41698 0 1.59118E-5
5-178541106-C-T p.Arg1133Gln missense ADAMTS2 1 83394 1.19913E-5 41697 0 3.18776E-5
5-178541110-C-G p.Val1132Leu missense ADAMTS2 1 83394 1.19913E-5 41697 0 4.37588E-5
5-178541124-G-T p.Thr1127Asn missense ADAMTS2 1 83390 1.19918E-5 41695 0 8.23778E-6
5-178541126-G-A p.Pro1126Pro synonymous ADAMTS2 1 83390 1.19918E-5 41695 0 3.98E-6
5-178541128-G-T p.Pro1126Thr missense ADAMTS2 1 83386 1.19924E-5 41693 0 6.37227E-5
5-178541137-G-A p.Leu1123Phe missense ADAMTS2 11 83394 1.31904E-4 41697 0 1.03512E-4
5-178541142-G-C p.Pro1121Arg missense ADAMTS2 2 83394 2.39825E-5 41697 1 NA
5-178541152-C-T p.Val1118Met missense ADAMTS2 3 83396 3.59729E-5 41698 0 1.91229E-4
5-178541152-C-G p.Val1118Leu missense ADAMTS2 1 83396 1.1991E-5 41698 0 NA
5-178541153-G-A p.Asp1117Asp synonymous ADAMTS2 2 83398 2.39814E-5 41699 0 3.5858E-5
5-178541155-C-G p.Asp1117His missense ADAMTS2 1 83394 1.19913E-5 41697 0 NA
5-178541159-G-A p.Asp1115Asp synonymous ADAMTS2 1 83392 1.19916E-5 41696 0 7.96857E-6
5-178541161-C-T p.Asp1115Asn missense ADAMTS2 23 83384 2.75832E-4 41692 0 1.23548E-4
5-178541162-G-A p.Asn1114Asn synonymous ADAMTS2 17 83378 2.03891E-4 41689 0 0.00151057
5-178541165-G-A p.His1113His synonymous ADAMTS2 1 83378 1.19936E-5 41689 0 3.18654E-5
5-178541177-C-T p.Pro1109Pro synonymous ADAMTS2 1 83370 1.19947E-5 41685 0 1.65041E-5
5-178541178-G-A p.Pro1109Leu missense ADAMTS2 2 83362 2.39917E-5 41681 0 3.58849E-5
5-178541198-C-T p.Val1102Val synonymous ADAMTS2 2 83356 2.39935E-5 41678 0 6.25E-4
5-178541200-C-T p.Val1102Met missense ADAMTS2 6 83356 7.19804E-5 41678 0 1.59479E-5
5-178541225-A-G p.Cys1093Cys synonymous ADAMTS2 298 83336 0.00357589 41668 2 0.00665775
5-178541230-A-G p.Ser1092Pro missense ADAMTS2 1 83338 1.19993E-5 41669 0 NA
5-178541254-C-T p.Gly1084Ser missense ADAMTS2 1 83286 1.20068E-5 41643 0 3.97788E-6
5-178541271-C-T p.Arg1078His missense ADAMTS2 1 83214 1.20172E-5 41607 0 3.18573E-5
5-178541272-G-A p.Arg1078Cys missense ADAMTS2 6 83206 7.21102E-5 41603 0 6.25E-4
5-178541286-A-G p.Met1073Thr missense ADAMTS2 1 83112 1.2032E-5 41556 0 NA
5-178541309-G-A p.Gly1065Gly synonymous ADAMTS2 8 82528 9.69368E-5 41264 0 9.55353E-5
5-178541311-C-G p.Gly1065Arg missense ADAMTS2 2 82522 2.4236E-5 41261 0 1.86806E-4
5-178541323-C-T p.Gly1061Ser missense+splice_region ADAMTS2 1 81904 1.22094E-5 40952 0 NA
5-178548657-G-A c.3178+5C>T splice_region ADAMTS2 2 82674 2.41914E-5 41337 0 3.39963E-5
5-178548658-T-C c.3178+4A>G splice_region ADAMTS2 1 82648 1.20995E-5 41324 0 NA
5-178548663-TGAC-T p.Ser1059del disruptive_inframe_deletion ADAMTS2 1 82696 1.20925E-5 41348 0 NA
5-178548683-G-A p.Pro1053Ser missense ADAMTS2 1 82724 1.20884E-5 41362 0 4.1834E-6
5-178548684-C-T p.Ser1052Ser synonymous ADAMTS2 4 82676 4.83816E-5 41338 0 1.69906E-5
5-178548686-A-C p.Ser1052Ala missense ADAMTS2 34 82650 4.11373E-4 41325 0 0.00151057
5-178548693-G-A p.Asp1049Asp synonymous ADAMTS2 2 82660 2.41955E-5 41330 0 NA
5-178548697-G-A p.Pro1048Leu missense ADAMTS2 1 82660 1.20978E-5 41330 0 1.70268E-5
5-178548701-G-A p.Arg1047Cys missense ADAMTS2 1 82684 1.20942E-5 41342 0 8.51731E-6
5-178548724-C-T p.Ser1039Asn missense ADAMTS2 1 82596 1.21071E-5 41298 0 1.7158E-5
5-178548726-C-T p.Lys1038Lys synonymous ADAMTS2 1 82606 1.21057E-5 41303 0 NA
5-178549645-G-C p.Arg1030Gly missense+splice_region ADAMTS2 3 71356 4.20427E-5 35678 0 6.55128E-6
5-178549645-G-A p.Arg1030* stop_gained ADAMTS2 1 71356 1.40142E-5 35678 0 NA
5-178549654-G-A p.Pro1027Ser missense ADAMTS2 2 73146 2.73426E-5 36573 0 0.0010846
5-178549655-G-T p.Gly1026Gly synonymous ADAMTS2 1 73232 1.36552E-5 36616 0 0.0010846
5-178549657-C-T p.Gly1026Ser missense ADAMTS2 5 73570 6.79625E-5 36785 0 2.54728E-4
5-178549660-G-T p.Leu1025Ile missense ADAMTS2 1 74316 1.34561E-5 37158 0 6.47593E-6
5-178549673-C-T p.Ala1020Ala synonymous ADAMTS2 6 76368 7.85669E-5 38184 0 5.24989E-5
5-178549674-G-A p.Ala1020Val missense ADAMTS2 4 76622 5.22043E-5 38311 0 3.18552E-5
5-178549686-C-T p.Arg1016His missense ADAMTS2 1 77968 1.28258E-5 38984 0 3.21469E-5
5-178549687-G-A p.Arg1016Cys missense ADAMTS2 1 78120 1.28008E-5 39060 0 1.92973E-5
5-178549695-T-G p.Gln1013Pro missense ADAMTS2 2 79012 2.53126E-5 39506 0 6.36983E-5
5-178549700-G-C p.Ile1011Met missense ADAMTS2 1 79258 1.2617E-5 39629 0 6.36983E-5
5-178549704-C-T p.Gly1010Asp missense ADAMTS2 1 79274 1.26145E-5 39637 0 NA
5-178549705-C-T p.Gly1010Ser missense ADAMTS2 5 79380 6.29882E-5 39690 0 5.18027E-5
5-178549706-G-A p.Phe1009Phe synonymous ADAMTS2 4 79470 5.03335E-5 39735 0 1.03381E-4
5-178549709-G-T p.Ser1008Arg missense ADAMTS2 1 79566 1.25682E-5 39783 0 NA
5-178549715-G-A p.Asp1006Asp synonymous ADAMTS2 11 79770 1.37896E-4 39885 0 6.25E-4
5-178549719-G-A p.Ala1005Val missense ADAMTS2 292 79872 0.00365585 39936 2 0.00789474
5-178549720-C-T p.Ala1005Thr missense ADAMTS2 2 79902 2.50307E-5 39951 0 1.90714E-5
5-178549721-G-A p.Thr1004Thr synonymous ADAMTS2 9 79962 1.12553E-4 39981 0 0.00105152
5-178549725-C-T p.Arg1003His missense ADAMTS2 2 80008 2.49975E-5 40004 0 0.00210305
5-178549726-G-A p.Arg1003Cys missense ADAMTS2 2 80064 2.498E-5 40032 0 6.37105E-5
5-178549749-G-A p.Thr995Ile missense ADAMTS2 1 80340 1.24471E-5 40170 0 NA
5-178549753-C-T p.Gly994Ser missense ADAMTS2 1 80316 1.24508E-5 40158 0 5.09788E-5
5-178549754-G-A p.Asn993Asn synonymous ADAMTS2 2 80334 2.48961E-5 40167 0 0.0026096
5-178549763-G-A p.Thr990Thr synonymous ADAMTS2 5 80360 6.222E-5 40180 0 5.20833E-4
5-178549774-A-G p.Cys987Arg missense+splice_region ADAMTS2 2 80180 2.49439E-5 40090 0 6.22898E-6
5-178549778-CA-C c.2959-5delT splice_region ADAMTS2 1 80078 1.24878E-5 40039 0 NA
5-178549778-C-T c.2959-4G>A splice_region ADAMTS2 1 80078 1.24878E-5 40039 0 NA
5-178551967-T-C c.2958+7A>G splice_region ADAMTS2 6 82116 7.30674E-5 41058 0 3.29468E-4
5-178551969-C-T c.2958+5G>A splice_region ADAMTS2 3 82040 3.65675E-5 41020 0 4.0102E-5
5-178551970-G-A c.2958+4C>T splice_region ADAMTS2 22 82018 2.68234E-4 41009 0 7.79761E-4
5-178551985-G-A p.Pro983Ser missense ADAMTS2 1 81926 1.22061E-5 40963 0 2.01016E-5
5-178551987-C-T p.Gly982Glu missense ADAMTS2 1 81934 1.22049E-5 40967 0 8.04907E-6
5-178551989-G-A p.Ala981Ala synonymous ADAMTS2 2 81950 2.44051E-5 40975 0 1.67325E-5
5-178551999-C-T p.Arg978His missense ADAMTS2 16 81750 1.95719E-4 40875 0 8.38293E-5
5-178552000-G-A p.Arg978Cys missense ADAMTS2 1 81770 1.22294E-5 40885 0 4.02823E-6
5-178552003-C-G p.Gly977Arg missense ADAMTS2 1 81796 1.22255E-5 40898 0 NA
5-178552006-G-A p.Pro976Ser missense ADAMTS2 1 81800 1.22249E-5 40900 0 8.40746E-6
5-178552007-G-A p.Cys975Cys synonymous ADAMTS2 1 81788 1.22267E-5 40894 0 NA
5-178552017-C-T p.Arg972His missense ADAMTS2 1 81704 1.22393E-5 40852 0 2.53721E-5
5-178552027-C-A p.Ala969Ser missense ADAMTS2 11 81574 1.34847E-4 40787 1 0.00151976
5-178552029-C-T p.Arg968Gln missense ADAMTS2 3 81664 3.67359E-5 40832 0 5.08087E-5
5-178552030-G-A p.Arg968Trp missense ADAMTS2 2 81584 2.45146E-5 40792 0 6.4082E-5
5-178552032-C-T p.Arg967His missense ADAMTS2 1 81514 1.22678E-5 40757 0 1.21448E-5
5-178552039-C-T p.Glu965Lys missense ADAMTS2 18 81742 2.20205E-4 40871 0 9.44394E-4
5-178552040-G-A p.Pro964Pro synonymous ADAMTS2 11 81676 1.34678E-4 40838 0 5.25565E-4
5-178552044-C-T p.Arg963Gln missense ADAMTS2 5 81804 6.11217E-5 40902 0 3.19857E-5
5-178552048-C-T p.Ala962Thr missense ADAMTS2 4 81882 4.88508E-5 40941 0 3.1955E-5
5-178552052-A-G p.Asn960Asn synonymous ADAMTS2 2 82058 2.4373E-5 41029 0 4.00827E-6
5-178552066-C-T p.Ala956Thr missense ADAMTS2 1 82116 1.21779E-5 41058 0 2.80191E-5
5-178552067-G-A p.His955His synonymous ADAMTS2 3 81146 3.69704E-5 40573 0 0.00179278
5-178552072-C-T p.Val954Met missense ADAMTS2 11 82202 1.33817E-4 41101 0 0.00151515
5-178552077-C-T p.Arg952His missense ADAMTS2 3 82182 3.65043E-5 41091 0 5.04541E-4
5-178552086-T-G p.Asn949Thr missense ADAMTS2 6 80942 7.41272E-5 40471 0 0.00446918
5-178552087-TGTC-T p.Asp948del conservative_inframe_deletion ADAMTS2 2 82280 2.43072E-5 41140 0 6.39264E-5
5-178552090-C-T p.Asp948Asn missense ADAMTS2 3 81048 3.70151E-5 40524 0 0.00289403
5-178552097-C-T p.Pro945Pro synonymous ADAMTS2 1 82312 1.21489E-5 41156 0 9.58895E-5
5-178552098-G-A p.Pro945Leu missense ADAMTS2 22 82314 2.67269E-4 41157 0 0.00352823
5-178552098-G-C p.Pro945Arg missense ADAMTS2 1 82316 1.21483E-5 41158 0 2.4907E-5
5-178552110-C-T p.Arg941His missense ADAMTS2 1 82270 1.21551E-5 41135 0 6.37755E-5
5-178552111-G-A p.Arg941Cys missense ADAMTS2 2 82236 2.43202E-5 41118 0 3.99508E-6
5-178552114-C-T p.Val940Met missense ADAMTS2 29 82230 3.52669E-4 41115 0 3.50676E-4
5-178552115-G-A p.Ser939Ser synonymous ADAMTS2 14 82230 1.70254E-4 41115 0 1.59418E-4
5-178552121-C-T p.Val937Val synonymous ADAMTS2 11 82118 1.33954E-4 41059 1 0.00252016
5-178552137-C-T p.Arg932Gln missense ADAMTS2 81 82004 9.87757E-4 41002 0 0.00127964
5-178552169-G-A p.Gly921Gly synonymous ADAMTS2 32 81142 3.9437E-4 40571 0 0.00111579
5-178552181-C-T p.Val917Val splice_region+synonymous ADAMTS2 1 80734 1.23864E-5 40367 0 8.35227E-6
5-178552185-C-T c.2751-4G>A splice_region ADAMTS2 221 80576 0.00274275 40288 0 0.00283597
5-178552994-C-T c.2750+5G>A splice_region ADAMTS2 1 82548 1.21142E-5 41274 0 3.18512E-5
5-178552996-C-T c.2750+3G>A splice_region ADAMTS2 1 82594 1.21074E-5 41297 0 3.99313E-6
5-178553019-T-C p.Pro910Pro synonymous ADAMTS2 1498 82572 0.0181417 41286 80 0.0369226
5-178553028-C-T p.Ala907Ala synonymous ADAMTS2 2 82632 2.42037E-5 41316 0 9.55414E-5
5-178553029-G-A p.Ala907Val missense ADAMTS2 2 82630 2.42043E-5 41315 0 4.98795E-5
5-178553030-C-T p.Ala907Thr missense ADAMTS2 11 82654 1.33085E-4 41327 0 0.0025
5-178553036-G-A p.Arg905Cys missense ADAMTS2 2 82698 2.41844E-5 41349 0 3.18471E-5
5-178553036-G-C p.Arg905Gly missense ADAMTS2 1 82698 1.20922E-5 41349 0 NA
5-178553044-T-C p.Lys902Arg missense ADAMTS2 1 82742 1.20858E-5 41371 0 3.18593E-5
5-178553052-C-T p.Ser899Ser synonymous ADAMTS2 1 82686 1.20939E-5 41343 0 6.25E-4
5-178553057-G-A p.Leu898Phe missense ADAMTS2 1 82754 1.2084E-5 41377 0 3.31901E-5
5-178553060-C-T p.Ala897Thr missense ADAMTS2 1 82716 1.20896E-5 41358 0 1.27462E-4
5-178553061-G-A p.Ala896Ala synonymous ADAMTS2 1 82738 1.20863E-5 41369 0 4.97793E-5
5-178553093-C-T p.Asp886Asn missense ADAMTS2 1 82718 1.20893E-5 41359 0 NA
5-178553095-A-G p.Leu885Pro missense ADAMTS2 1 82710 1.20904E-5 41355 0 NA
5-178553101-C-T p.Arg883Gln missense ADAMTS2 1 82630 1.21021E-5 41315 0 3.18451E-5
5-178553102-G-A p.Arg883Trp missense ADAMTS2 1 82678 1.20951E-5 41339 0 3.18471E-5
5-178553104-C-T p.Arg882His missense ADAMTS2 2 82670 2.41926E-5 41335 0 1.59584E-5
5-178553116-T-C p.Lys878Arg missense ADAMTS2 3 82792 3.62354E-5 41396 0 9.55475E-5
5-178553121-G-A p.Phe876Phe synonymous ADAMTS2 6 82798 7.24655E-5 41399 0 7.96616E-6
5-178554964-G-A p.Gly871Gly synonymous ADAMTS2 8 83020 9.63623E-5 41510 0 4.78377E-4
5-178554971-G-A p.Pro869Leu missense ADAMTS2 1 83080 1.20366E-5 41540 0 NA
5-178554983-G-A p.Pro865Leu missense ADAMTS2 1 83142 1.20276E-5 41571 0 1.64924E-5
5-178554984-G-A p.Pro865Ser missense ADAMTS2 1 83154 1.20259E-5 41577 0 1.19344E-5
5-178555008-C-T p.Glu857Lys missense ADAMTS2 1 83210 1.20178E-5 41605 0 3.97763E-5
5-178555009-G-A p.Tyr856Tyr synonymous ADAMTS2 2 83218 2.40333E-5 41609 0 3.29761E-5
5-178555018-A-G p.Ser853Ser synonymous ADAMTS2 3 83234 3.6043E-5 41617 0 1.64864E-5
5-178555019-G-C p.Ser853Cys missense ADAMTS2 1 83228 1.20152E-5 41614 0 3.18532E-5
5-178555020-A-C p.Ser853Ala missense ADAMTS2 1 83236 1.2014E-5 41618 0 3.18634E-5
5-178555034-A-G p.Val848Ala missense ADAMTS2 2 83214 2.40344E-5 41607 0 3.97716E-6
5-178555035-C-T p.Val848Ile missense ADAMTS2 1 83218 1.20166E-5 41609 0 3.18654E-5
5-178555036-G-A p.Asn847Asn synonymous ADAMTS2 2 83218 2.40333E-5 41609 0 NA
5-178555044-C-G p.Asp845His missense ADAMTS2 1 83226 1.20155E-5 41613 0 1.64867E-5
5-178555044-C-T p.Asp845Asn missense ADAMTS2 1 83226 1.20155E-5 41613 0 NA
5-178555045-G-A p.Asp844Asp synonymous ADAMTS2 16138 83010 0.19441 41505 1818 0.206464
5-178555047-C-T p.Asp844Asn missense ADAMTS2 1 83236 1.2014E-5 41618 0 3.29799E-5
5-178555048-G-A p.Val843Val synonymous ADAMTS2 1 83238 1.20137E-5 41619 0 3.18593E-5
5-178555049-A-G p.Val843Ala missense ADAMTS2 1 83232 1.20146E-5 41616 0 NA
5-178555084-C-T p.Thr831Thr synonymous ADAMTS2 3 83220 3.6049E-5 41610 0 7.96102E-6
5-178555085-G-A p.Thr831Met missense ADAMTS2 3 83222 3.60482E-5 41611 0 3.98064E-5
5-178555097-C-T p.Arg827Gln missense ADAMTS2 2769 83148 0.0333021 41574 51 0.0260946
5-178555098-G-A p.Arg827Trp missense ADAMTS2 1 83198 1.20195E-5 41599 0 6.77172E-5
5-178555108-C-T p.Val823Val synonymous ADAMTS2 13 83162 1.56321E-4 41581 0 1.65379E-4
5-178555114-G-C p.Ile821Met missense ADAMTS2 2 83122 2.4061E-5 41561 0 NA
5-178555127-A-G c.2458-8T>C splice_region ADAMTS2 1 83102 1.20334E-5 41551 0 3.99588E-6
5-178556930-C-T c.2457+3G>A splice_region ADAMTS2 2 82580 2.42189E-5 41290 0 NA
5-178556938-C-T p.Val818Ile missense ADAMTS2 7 82686 8.46576E-5 41343 0 5.58494E-5
5-178556939-G-A p.Thr817Thr synonymous ADAMTS2 1 82734 1.20869E-5 41367 0 4.16188E-5
5-178556940-G-C p.Thr817Ser missense ADAMTS2 3 82748 3.62547E-5 41374 0 3.98743E-6
5-178556940-G-A p.Thr817Ile missense ADAMTS2 1 82748 1.20849E-5 41374 0 NA
5-178556950-C-T p.Gly814Ser missense ADAMTS2 2 82904 2.41243E-5 41452 0 6.65015E-5
5-178556951-G-A p.His813His synonymous ADAMTS2 12 82930 1.447E-4 41465 0 8.28712E-4
5-178556960-G-T p.Gly810Gly synonymous ADAMTS2 1 83000 1.20482E-5 41500 0 1.19554E-5
5-178556976-G-A p.Thr805Met missense ADAMTS2 1 83130 1.20294E-5 41565 0 5.80364E-5
5-178556982-C-T p.Arg803Gln missense ADAMTS2 3 83168 3.60716E-5 41584 0 1.65774E-5
5-178556986-C-T p.Gly802Ser missense ADAMTS2 4 83166 4.80966E-5 41583 0 4.14346E-5
5-178556987-G-A p.Asp801Asp synonymous ADAMTS2 1 83160 1.2025E-5 41580 0 3.18756E-5
5-178557002-C-T p.Glu796Glu synonymous ADAMTS2 3 83198 3.60586E-5 41599 0 8.2791E-6
5-178557008-C-T p.Glu794Glu synonymous ADAMTS2 1 83210 1.20178E-5 41605 0 NA
5-178557013-C-T p.Val793Met missense ADAMTS2 1 83210 1.20178E-5 41605 0 6.25E-4
5-178557019-T-C p.Met791Val missense ADAMTS2 1 83224 1.20158E-5 41612 0 1.59199E-5
5-178557030-G-A p.Thr787Ile missense ADAMTS2 1 83242 1.20132E-5 41621 0 3.18695E-5
5-178557033-T-C p.Lys786Arg missense ADAMTS2 1 83248 1.20123E-5 41624 0 7.95906E-6
5-178557035-G-A p.Ser785Ser synonymous ADAMTS2 1 83228 1.20152E-5 41614 0 1.65459E-5
5-178557039-C-A p.Ser784Ile missense ADAMTS2 2 83234 2.40286E-5 41617 0 3.18634E-5
5-178557049-C-T p.Val781Met missense ADAMTS2 1 83234 1.20143E-5 41617 0 3.97928E-6
5-178557085-C-G p.Glu769Gln missense ADAMTS2 4 83166 4.80966E-5 41583 0 NA
5-178557086-C-T p.Leu768Leu synonymous ADAMTS2 1 83184 1.20215E-5 41592 0 NA
5-178557094-T-C p.Lys766Glu missense ADAMTS2 1 83138 1.20282E-5 41569 0 3.98206E-6
5-178557097-C-T p.Val765Ile missense+splice_region ADAMTS2 4 83110 4.8129E-5 41555 0 0.00100705
5-178557098-G-A p.Ala764Ala splice_region+synonymous ADAMTS2 12 83086 1.44429E-4 41543 0 1.27372E-4
5-178557107-T-C c.2291-8A>G splice_region ADAMTS2 4403 82846 0.0531468 41423 112 0.0579937
5-178559249-C-T p.Ala758Thr missense ADAMTS2 32 83154 3.84828E-4 41577 0 4.39054E-4
5-178559250-G-A p.Asp757Asp synonymous ADAMTS2 9 83152 1.08236E-4 41576 0 1.27421E-4
5-178559250-G-T p.Asp757Glu missense ADAMTS2 1 83152 1.20262E-5 41576 0 NA
5-178559253-T-C p.Val756Val synonymous ADAMTS2 2 83166 2.40483E-5 41583 0 NA
5-178559254-A-G p.Val756Ala missense ADAMTS2 29 83172 3.48675E-4 41586 0 0.0010193
5-178559260-T-C p.Gln754Arg missense ADAMTS2 1 83206 1.20184E-5 41603 0 1.65612E-5
5-178559271-G-A p.His750His synonymous ADAMTS2 2 83212 2.4035E-5 41606 0 NA
5-178559278-G-A p.Ala748Val missense ADAMTS2 5 83206 6.00918E-5 41603 0 7.95748E-6
5-178559279-C-T p.Ala748Thr missense ADAMTS2 1 83206 1.20184E-5 41603 0 8.28569E-6
5-178559291-T-C p.Ile744Val missense ADAMTS2 13 83192 1.56265E-4 41596 0 0.00125
5-178559293-T-C p.Glu743Gly missense ADAMTS2 1 83188 1.2021E-5 41594 0 NA
5-178559780-T-C p.His736Arg missense+splice_region ADAMTS2 4 82966 4.82125E-5 41483 0 3.98054E-6
5-178559780-T-A p.His736Leu missense+splice_region ADAMTS2 1 82966 1.20531E-5 41483 0 3.98054E-6
5-178559796-G-A p.Arg731Trp missense ADAMTS2 1 83040 1.20424E-5 41520 0 5.03525E-4
5-178559815-C-T p.Val724Val synonymous ADAMTS2 2 83020 2.40906E-5 41510 0 NA
5-178559815-C-G p.Val724Val synonymous ADAMTS2 3 83020 3.61359E-5 41510 0 6.37186E-5
5-178559816-A-T p.Val724Glu missense ADAMTS2 3 83012 3.61394E-5 41506 0 5.80556E-5
5-178559824-G-T p.His721Gln missense ADAMTS2 1 82988 1.20499E-5 41494 0 1.66149E-5
5-178559841-C-T p.Gly716Arg missense ADAMTS2 2 82806 2.41528E-5 41403 0 9.55657E-5
5-178559842-G-A p.Cys715Cys synonymous ADAMTS2 3 82754 3.6252E-5 41377 0 3.19007E-5
5-178559845-C-G p.Val714Val synonymous ADAMTS2 3 82758 3.62503E-5 41379 0 NA
5-178559847-C-T p.Val714Met missense ADAMTS2 8 82748 9.66791E-5 41374 0 3.18593E-5
5-178559848-G-A p.Gly713Gly synonymous ADAMTS2 1 82724 1.20884E-5 41362 0 NA
5-178559867-T-G p.Lys707Thr missense ADAMTS2 1 82708 1.20907E-5 41354 0 NA
5-178559877-C-T p.Gly704Ser missense ADAMTS2 42 82622 5.08339E-4 41311 0 0.00453172
5-178559878-G-A p.Ile703Ile synonymous ADAMTS2 11 82610 1.33156E-4 41305 0 2.231E-4
5-178559878-G-C p.Ile703Met missense ADAMTS2 1 82610 1.21051E-5 41305 0 NA
5-178559879-A-G p.Ile703Thr missense ADAMTS2 1 82604 1.2106E-5 41302 0 NA
5-178559886-C-T p.Gly701Ser missense ADAMTS2 5 82556 6.0565E-5 41278 0 1.72927E-5
5-178559887-G-A p.Asp700Asp synonymous ADAMTS2 7 82496 8.48526E-5 41248 0 5.03525E-4
5-178559894-C-T p.Gly698Asp missense ADAMTS2 2 82352 2.4286E-5 41176 0 NA
5-178559904-G-A c.2086-3C>T splice_region ADAMTS2 1 82168 1.21702E-5 41084 0 1.4421E-4
5-178562902-G-T c.2085+8C>A splice_region ADAMTS2 7 82146 8.52141E-5 41073 0 6.25E-4
5-178562922-G-A p.Arg691Arg synonymous ADAMTS2 16 82578 1.93756E-4 41289 0 0.00164611
5-178562923-C-T p.Arg691His missense ADAMTS2 3 82598 3.63205E-5 41299 0 1.67056E-5
5-178562923-C-A p.Arg691Leu missense ADAMTS2 1 82598 1.21068E-5 41299 0 NA
5-178562933-G-C p.Leu688Val missense ADAMTS2 2 82782 2.41598E-5 41391 0 NA
5-178562941-G-A p.Ala685Val missense ADAMTS2 1 82836 1.2072E-5 41418 0 NA
5-178562943-G-A p.Asp684Asp synonymous ADAMTS2 3 82862 3.62048E-5 41431 0 9.55657E-5
5-178562944-T-A p.Asp684Val missense ADAMTS2 1 82880 1.20656E-5 41440 0 3.98708E-6
5-178562952-G-A p.Ser681Ser synonymous ADAMTS2 1 82976 1.20517E-5 41488 0 3.98533E-6
5-178562959-C-T p.Arg679His missense ADAMTS2 3 82964 3.61603E-5 41482 0 5.57791E-5
5-178562959-C-A p.Arg679Leu missense ADAMTS2 1 82964 1.20534E-5 41482 0 NA
5-178562961-C-T p.Thr678Thr synonymous ADAMTS2 4 82974 4.82079E-5 41487 0 3.32105E-5
5-178562967-G-A p.Asp676Asp synonymous ADAMTS2 18498 82680 0.22373 41340 2173 0.250814
5-178562980-C-A p.Arg672Leu missense ADAMTS2 2 83076 2.40743E-5 41538 0 2.54842E-4
5-178562982-C-A p.Lys671Asn missense ADAMTS2 1 83086 1.20357E-5 41543 0 8.28185E-6
5-178562986-A-G p.Met670Thr missense ADAMTS2 1 83096 1.20343E-5 41548 0 1.65626E-5
5-178562997-C-T p.Glu666Glu synonymous ADAMTS2 1 83076 1.20372E-5 41538 0 3.31214E-5
5-178563002-C-T p.Gly665Arg missense ADAMTS2 797 83044 0.00959732 41522 2 0.010193
5-178563018-G-A p.Cys659Cys synonymous ADAMTS2 1 83030 1.20438E-5 41515 0 6.36862E-5
5-178563036-C-G p.Glu653Asp missense ADAMTS2 1 82946 1.2056E-5 41473 0 NA
5-178564767-C-A c.1951+3G>T splice_region ADAMTS2 1 54194 1.84522E-5 27097 0 5.84358E-6
5-178564772-T-A p.Asp650Val missense+splice_region ADAMTS2 1 55466 1.80291E-5 27733 0 NA
5-178564775-C-T p.Arg649Gln missense ADAMTS2 1 56222 1.77866E-5 28111 0 5.18027E-5
5-178564776-G-A p.Arg649Trp missense ADAMTS2 1 55956 1.78712E-5 27978 0 3.18776E-5
5-178564776-G-C p.Arg649Gly missense ADAMTS2 1 55956 1.78712E-5 27978 0 1.10939E-5
5-178564791-G-A p.Leu644Leu synonymous ADAMTS2 2 60836 3.28753E-5 30418 0 6.25E-4
5-178564798-G-T p.His641Gln missense ADAMTS2 1 62484 1.60041E-5 31242 0 NA
5-178564805-G-C p.Ala639Gly missense ADAMTS2 1 64128 1.55938E-5 32064 0 NA
5-178564806-C-T p.Ala639Thr missense ADAMTS2 1 64020 1.56201E-5 32010 0 3.93515E-5
5-178564807-G-A p.Asp638Asp synonymous ADAMTS2 5 64822 7.71343E-5 32411 0 2.71718E-4
5-178564809-C-T p.Asp638Asn missense ADAMTS2 2 65336 3.0611E-5 32668 0 1.54871E-4
5-178564810-G-A p.Gly637Gly synonymous ADAMTS2 2 65940 3.03306E-5 32970 0 0.00156087
5-178564810-G-T p.Gly637Gly synonymous ADAMTS2 1 65940 1.51653E-5 32970 0 NA
5-178564812-C-T p.Gly637Ser missense ADAMTS2 14 66880 2.0933E-4 33440 0 1.91217E-4
5-178564813-G-A p.His636His synonymous ADAMTS2 865 67148 0.012882 33574 34 0.0275387
5-178564815-G-A p.His636Tyr missense ADAMTS2 2 68036 2.93962E-5 34018 0 1.8773E-4
5-178564818-C-T p.Glu635Lys missense ADAMTS2 8 68962 1.16006E-4 34481 0 4.49169E-4
5-178564838-C-T p.Arg628His missense ADAMTS2 47 72040 6.52415E-4 36020 0 0.0012208
5-178564838-C-A p.Arg628Leu missense ADAMTS2 1 72046 1.388E-5 36023 0 NA
5-178564839-G-A p.Arg628Cys missense ADAMTS2 1 72246 1.38416E-5 36123 0 NA
5-178564851-C-T p.Glu624Lys missense ADAMTS2 1 73388 1.36262E-5 36694 0 NA
5-178564852-G-A p.Arg623Arg synonymous ADAMTS2 14 73408 1.90715E-4 36704 0 0.00206186
5-178564852-G-T p.Arg623Arg synonymous ADAMTS2 1 73412 1.36218E-5 36706 0 4.48069E-5
5-178564853-C-A p.Arg623Leu missense ADAMTS2 2 73500 2.72109E-5 36750 0 NA
5-178564853-C-T p.Arg623His missense ADAMTS2 2 73500 2.72109E-5 36750 0 3.18512E-5
5-178564855-G-A p.Phe622Phe synonymous ADAMTS2 1 73986 1.35161E-5 36993 0 4.46389E-5
5-178564876-G-A p.Cys615Cys synonymous ADAMTS2 1 74696 1.33876E-5 37348 0 NA
5-178564887-G-A p.Arg612Cys missense ADAMTS2 2 74628 2.67996E-5 37314 0 2.51439E-5
5-178564903-G-T p.Asp606Glu missense ADAMTS2 2 75074 2.66404E-5 37537 0 6.39084E-6
5-178564905-C-T p.Asp606Asn missense ADAMTS2 7 75096 9.3214E-5 37548 0 3.82214E-4
5-178564906-G-A p.Tyr605Tyr synonymous ADAMTS2 4 75162 5.32184E-5 37581 0 0.00313808
5-178564918-C-T p.Ser601Ser synonymous ADAMTS2 307 75318 0.00407605 37659 4 0.00853721
5-178564919-G-A p.Ser601Leu missense ADAMTS2 2 75282 2.65668E-5 37641 0 8.61167E-5
5-178564924-G-A p.Thr599Thr synonymous ADAMTS2 1 75606 1.32265E-5 37803 0 NA
5-178564928-C-T p.Arg598His missense ADAMTS2 1 75446 1.32545E-5 37723 0 6.36943E-5
5-178564936-G-A p.Asn595Asn synonymous ADAMTS2 2 75718 2.64138E-5 37859 0 0.00161464
5-178564939-G-A p.Ala594Ala synonymous ADAMTS2 1 75788 1.31947E-5 37894 0 NA
5-178564943-G-T p.Pro593Gln missense+splice_region ADAMTS2 1 75706 1.3209E-5 37853 0 1.36988E-5
5-178564943-G-A p.Pro593Leu missense+splice_region ADAMTS2 1 75706 1.3209E-5 37853 0 6.2282E-5
5-178566892-G-A p.His592Tyr missense+splice_region ADAMTS2 1 82816 1.2075E-5 41408 0 NA
5-178566897-T-G p.Asn590Thr missense ADAMTS2 11 82824 1.32812E-4 41412 0 2.231E-4
5-178566897-T-C p.Asn590Ser missense ADAMTS2 2 82824 2.41476E-5 41412 0 NA
5-178566909-C-T p.Arg586His missense ADAMTS2 1 82864 1.2068E-5 41432 0 8.3131E-6
5-178566911-G-A p.Thr585Thr synonymous ADAMTS2 1 82844 1.20709E-5 41422 0 NA
5-178566928-C-T p.Gly580Ser missense ADAMTS2 1 82612 1.21048E-5 41306 0 3.18817E-5
5-178566942-C-T p.Arg575His missense ADAMTS2 1 82814 1.20753E-5 41407 0 3.31203E-5
5-178566953-G-A p.Gly571Gly synonymous ADAMTS2 1 82986 1.20502E-5 41493 0 NA
5-178566959-C-T p.Pro569Pro synonymous ADAMTS2 1 83018 1.20456E-5 41509 0 5.17121E-5
5-178566959-C-G p.Pro569Pro synonymous ADAMTS2 1 83018 1.20456E-5 41509 0 NA
5-178566960-G-A p.Pro569Leu missense ADAMTS2 4 83028 4.81765E-5 41514 0 8.2545E-6
5-178566970-C-T p.Ala566Thr missense ADAMTS2 2 83110 2.40645E-5 41555 0 3.18837E-5
5-178566971-G-A p.Gly565Gly synonymous ADAMTS2 155 83100 0.00186522 41550 1 0.00414488
5-178566982-C-T p.Gly562Ser missense ADAMTS2 1 83162 1.20247E-5 41581 0 4.94625E-5
5-178566983-G-A p.Asp561Asp synonymous ADAMTS2 3 83180 3.60664E-5 41590 0 9.54494E-5
5-178566997-T-C p.Ile557Val missense ADAMTS2 1 83206 1.20184E-5 41603 0 3.97674E-6
5-178566997-T-G p.Ile557Leu missense ADAMTS2 1 83206 1.20184E-5 41603 0 NA
5-178567013-G-A p.Ile551Ile synonymous ADAMTS2 1 83212 1.20175E-5 41606 0 8.24049E-6
5-178567022-T-C p.Gly548Gly synonymous ADAMTS2 318 83190 0.00382257 41595 4 0.00809717
5-178567025-T-C p.Lys547Lys synonymous ADAMTS2 2 83190 2.40414E-5 41595 0 1.64813E-5
5-178567040-A-G c.1630-4T>C splice_region ADAMTS2 1 83060 1.20395E-5 41530 0 3.97871E-6
5-178578131-C-T p.Ter567Ter stop_retained ADAMTS2 1 48072 2.08021E-5 24036 0 9.39549E-6
5-178578135-C-T p.Ala566Thr missense ADAMTS2 188 48036 0.00391373 24018 1 0.028786
5-178578136-G-A p.Ile565Ile synonymous ADAMTS2 4 48080 8.31947E-5 24040 0 3.18512E-4
5-178578138-T-C p.Ile565Val missense ADAMTS2 19 48144 3.94649E-4 24072 0 7.00458E-4
5-178578173-C-T p.Cys553Tyr missense ADAMTS2 4 47844 8.36051E-5 23922 0 3.56142E-5
5-178578179-T-A p.His551Leu missense ADAMTS2 1 47540 2.10349E-5 23770 0 1.26486E-5
5-178578187-C-T p.Ala548Ala synonymous ADAMTS2 1 47010 2.12721E-5 23505 0 1.97161E-4
5-178578189-C-T p.Ala548Thr missense ADAMTS2 2 47000 4.25532E-5 23500 0 NA
5-178578190-G-A p.Gly547Gly synonymous ADAMTS2 4 47000 8.51064E-5 23500 0 5.97514E-5
5-178578193-C-T p.Pro546Pro synonymous ADAMTS2 11 46884 2.34622E-4 23442 0 6.68705E-4
5-178578194-G-A p.Pro546Leu missense ADAMTS2 2 46866 4.26749E-5 23433 0 0.00125
5-178578199-G-C p.Phe544Leu missense+splice_region ADAMTS2 1 46440 2.15332E-5 23220 0 8.86525E-4
5-178578203-T-A c.1630-2A>T splice_acceptor ADAMTS2 1 45296 2.2077E-5 22648 0 NA
5-178579137-C-T c.1629+6G>A splice_region ADAMTS2 1 83016 1.20459E-5 41508 0 1.2747E-4
5-178579153-G-A p.Ala540Val missense ADAMTS2 2 83112 2.40639E-5 41556 0 1.98959E-5
5-178579158-C-T p.Met538Ile missense ADAMTS2 1 83156 1.20256E-5 41578 0 NA
5-178579160-T-G p.Met538Leu missense ADAMTS2 1 83156 1.20256E-5 41578 0 NA
5-178579161-A-G p.Thr537Thr synonymous ADAMTS2 1 83160 1.2025E-5 41580 0 NA
5-178579164-C-T p.Gly536Gly synonymous ADAMTS2 1 83178 1.20224E-5 41589 0 NA
5-178579167-G-A p.Asp535Asp synonymous ADAMTS2 1 83204 1.20187E-5 41602 0 3.58049E-5
5-178579172-A-AG p.Asp535fs frameshift ADAMTS2 1 83228 1.20152E-5 41614 0 NA
5-178579176-G-C p.Pro532Pro synonymous ADAMTS2 1 83246 1.20126E-5 41623 0 1.73387E-4
5-178579212-A-G p.Pro520Pro synonymous ADAMTS2 1 83272 1.20088E-5 41636 0 8.25559E-6
5-178579242-G-A p.Asp510Asp synonymous ADAMTS2 2 83242 2.40263E-5 41621 0 NA
5-178579248-G-T p.Thr508Thr synonymous ADAMTS2 2 83196 2.40396E-5 41598 0 9.15416E-5
5-178579253-G-A p.Arg507Trp missense ADAMTS2 3 83166 3.60724E-5 41583 0 5.0205E-5
5-178580492-C-T p.Ala505Ala splice_region+synonymous ADAMTS2 1 81540 1.22639E-5 40770 0 8.55373E-6
5-178580495-C-T p.Thr504Thr synonymous ADAMTS2 41 81656 5.02106E-4 40828 0 0.00105163
5-178580496-G-A p.Thr504Met missense ADAMTS2 4 81660 4.89836E-5 40830 0 6.37308E-5
5-178580506-T-C p.Met501Val missense ADAMTS2 2 81924 2.44129E-5 40962 0 2.99981E-4
5-178580512-C-T p.Gly499Ser missense ADAMTS2 1 81968 1.21999E-5 40984 0 6.37186E-5
5-178580519-G-A p.Phe496Phe synonymous ADAMTS2 132 81976 0.00161023 40988 1 0.00238612
5-178580529-C-T p.Arg493His missense ADAMTS2 6 81958 7.32082E-5 40979 0 2.58558E-5
5-178580530-G-T p.Arg493Ser missense ADAMTS2 1 81962 1.22008E-5 40981 0 1.72295E-5
5-178580536-G-T p.Gln491Lys missense ADAMTS2 1 81912 1.22082E-5 40956 0 8.65471E-6
5-178580537-C-T p.Glu490Glu synonymous ADAMTS2 1 81920 1.2207E-5 40960 0 8.65846E-6
5-178580538-T-G p.Glu490Ala missense ADAMTS2 1 81936 1.22046E-5 40968 0 NA
5-178580539-C-T p.Glu490Lys missense ADAMTS2 2 81924 2.44129E-5 40962 0 3.18837E-5
5-178580540-G-A p.Asn489Asn synonymous ADAMTS2 1 81904 1.22094E-5 40952 0 3.47506E-5
5-178580549-G-A p.Tyr486Tyr synonymous ADAMTS2 342 81802 0.00418083 40901 0 0.00733325
5-178580561-C-T p.Pro482Pro synonymous ADAMTS2 2 81598 2.45104E-5 40799 0 7.11579E-5
5-178580562-G-A p.Pro482Leu missense ADAMTS2 2 81632 2.45002E-5 40816 0 2.04105E-5
5-178580576-C-T p.Ala477Ala synonymous ADAMTS2 49 81368 6.02202E-4 40684 0 3.69801E-4
5-178580577-G-A p.Ala477Val missense ADAMTS2 6 81344 7.37608E-5 40672 0 8.13023E-5
5-178580579-C-T p.Pro476Pro synonymous ADAMTS2 3 81364 3.68713E-5 40682 0 5.05561E-4
5-178580583-C-G p.Trp475Ser missense ADAMTS2 1 81288 1.23019E-5 40644 0 9.09968E-6
5-178580588-G-A p.His473His synonymous ADAMTS2 1 81154 1.23223E-5 40577 0 0.00101112
5-178580592-G-T p.Ala472Asp missense ADAMTS2 2 81128 2.46524E-5 40564 0 NA
5-178580593-C-T p.Ala472Thr missense ADAMTS2 6 81060 7.40192E-5 40530 0 3.56435E-4
5-178580594-G-A p.Phe471Phe synonymous ADAMTS2 1 81070 1.2335E-5 40535 0 9.21727E-6
5-178580624-G-C p.His461Gln missense+splice_region ADAMTS2 1 80210 1.24673E-5 40105 0 8.52864E-6
5-178580627-G-A c.1383-3C>T splice_region ADAMTS2 1 80098 1.24847E-5 40049 0 NA
5-178581059-C-T p.Arg458His missense ADAMTS2 6 60850 9.86031E-5 30425 0 6.15921E-5
5-178581059-C-A p.Arg458Leu missense ADAMTS2 2 60850 3.28677E-5 30425 0 3.18878E-5
5-178581077-CT-C p.Ser452fs frameshift ADAMTS2 1 62204 1.60761E-5 31102 0 NA
5-178581083-C-T p.Arg450His missense ADAMTS2 3 62102 4.83076E-5 31051 0 1.24899E-4
5-178581083-C-A p.Arg450Leu missense ADAMTS2 1 62102 1.61025E-5 31051 0 5.55108E-5
5-178581084-G-A p.Arg450Cys missense ADAMTS2 3 62328 4.81325E-5 31164 0 1.38366E-5
5-178581092-T-C p.His447Arg missense ADAMTS2 13 62436 2.08213E-4 31218 0 4.15123E-4
5-178581108-C-T p.Ala442Thr missense ADAMTS2 1 61278 1.63191E-5 30639 0 4.64958E-5
5-178581113-T-C p.Gln440Arg missense ADAMTS2 1 61394 1.62882E-5 30697 0 4.52661E-6
5-178581124-C-T p.Ala436Ala synonymous ADAMTS2 132 59962 0.00220139 29981 0 0.00502344
5-178581143-C-T p.Arg430Gln missense ADAMTS2 2 59022 3.38857E-5 29511 0 6.38162E-5
5-178581150-C-T p.Glu428Lys missense ADAMTS2 1 58104 1.72105E-5 29052 0 NA
5-178581151-G-A p.Asp427Asp synonymous ADAMTS2 634 57640 0.0109993 28820 23 0.0241941
5-178581152-T-A p.Asp427Val missense ADAMTS2 1 57564 1.7372E-5 28782 0 NA
5-178581154-G-A p.Gly426Gly synonymous ADAMTS2 1 57020 1.75377E-5 28510 0 2.71047E-5
5-178581162-G-A p.Arg424Cys missense ADAMTS2 1 56188 1.77974E-5 28094 0 3.1904E-5
5-178581165-T-G p.Asn423His missense ADAMTS2 1 56050 1.78412E-5 28025 0 NA
5-178581175-G-A p.Asp419Asp synonymous ADAMTS2 3 55122 5.44247E-5 27561 0 3.57679E-5
5-178581178-G-A p.His418His synonymous ADAMTS2 3 54542 5.50035E-5 27271 0 6.25E-4
5-178581197-C-T c.1239-4G>A splice_region ADAMTS2 1 52556 1.90273E-5 26278 0 6.38203E-5
5-178581843-A-G p.Phe404Leu missense ADAMTS2 1 82204 1.21649E-5 41102 0 NA
5-178581844-C-T p.Ala403Ala synonymous ADAMTS2 2 82208 2.43285E-5 41104 0 2.92312E-5
5-178581851-G-A p.Ser401Phe missense ADAMTS2 1 82336 1.21454E-5 41168 0 NA
5-178581859-G-A p.Asp398Asp synonymous ADAMTS2 19411 82058 0.236552 41029 2510 0.303125
5-178581884-C-T p.Arg390His missense ADAMTS2 1 82376 1.21395E-5 41188 0 1.78364E-5
5-178581886-G-A p.Val389Val synonymous ADAMTS2 1 82384 1.21383E-5 41192 0 NA
5-178581889-C-T p.Pro388Pro synonymous ADAMTS2 11 82352 1.33573E-4 41176 0 5.73541E-4
5-178581890-G-A p.Pro388Leu missense ADAMTS2 2 82344 2.42884E-5 41172 0 2.69145E-5
5-178581890-G-C p.Pro388Arg missense ADAMTS2 1 82344 1.21442E-5 41172 0 NA
5-178581903-C-T p.Gly384Ser missense ADAMTS2 2 82258 2.43137E-5 41129 0 9.16708E-6
5-178581904-G-A p.Thr383Thr synonymous ADAMTS2 23 82264 2.79588E-4 41132 0 2.3949E-4
5-178581912-G-A p.Pro381Ser missense ADAMTS2 1 82170 1.21699E-5 41085 0 4.02576E-6
5-178585718-G-A c.1132+6C>T splice_region ADAMTS2 1 83130 1.20294E-5 41565 0 3.97886E-6
5-178585719-C-T c.1132+5G>A splice_region ADAMTS2 1 83128 1.20296E-5 41564 0 3.18431E-5
5-178585721-C-T c.1132+3G>A splice_region ADAMTS2 1 83142 1.20276E-5 41571 0 NA
5-178585729-A-G p.Met376Thr missense ADAMTS2 1 83186 1.20213E-5 41593 0 NA
5-178585734-G-A p.Ser374Ser synonymous ADAMTS2 35 83204 4.20653E-4 41602 0 0.0013054
5-178585746-G-A p.Asp370Asp synonymous ADAMTS2 1 83258 1.20109E-5 41629 0 1.64962E-5
5-178585754-G-A p.Arg368Trp missense ADAMTS2 1 83260 1.20106E-5 41630 0 8.24837E-6
5-178585770-G-A p.His362His synonymous ADAMTS2 1 83282 1.20074E-5 41641 0 3.18451E-5
5-178585773-A-G p.Asp361Asp synonymous ADAMTS2 59 83272 7.08521E-4 41636 0 4.77859E-4
5-178585775-C-T p.Asp361Asn missense ADAMTS2 2 83274 2.40171E-5 41637 0 8.24933E-6
5-178585776-G-A p.His360His synonymous ADAMTS2 2 83268 2.40188E-5 41634 0 1.64987E-5
5-178585784-C-T p.Glu358Lys missense ADAMTS2 1 83272 1.20088E-5 41636 0 NA
5-178585787-C-T p.Asp357Asn missense ADAMTS2 10 83274 1.20086E-4 41637 0 5.17075E-5
5-178585788-G-A p.His356His synonymous ADAMTS2 2 83280 2.40154E-5 41640 0 3.97763E-6
5-178585794-C-T p.Thr354Thr synonymous ADAMTS2 3 83280 3.60231E-5 41640 0 0.00375
5-178585795-G-A p.Thr354Met missense ADAMTS2 1 83272 1.20088E-5 41636 0 3.18451E-5
5-178585814-G-T p.Leu348Ile missense ADAMTS2 1 83234 1.20143E-5 41617 0 NA
5-178585824-G-A p.Arg344Arg synonymous ADAMTS2 1 83210 1.20178E-5 41605 0 3.97817E-6
5-178585825-C-T p.Arg344His missense ADAMTS2 5 83194 6.01005E-5 41597 0 6.76326E-5
5-178585826-G-A p.Arg344Cys missense ADAMTS2 1 83190 1.20207E-5 41595 0 4.77407E-5
5-178585859-C-T p.Gly333Arg missense ADAMTS2 3 82926 3.61768E-5 41463 0 5.04032E-4
5-178585865-C-T p.Glu331Lys missense ADAMTS2 23 82814 2.77731E-4 41407 0 1.58627E-4
5-178585872-G-A p.Ser328Ser synonymous ADAMTS2 10 82622 1.21033E-4 41311 0 5.03525E-4
5-178585876-A-G p.Met327Thr missense ADAMTS2 1 82556 1.2113E-5 41278 0 NA
5-178585888-G-A c.976-8C>T splice_region ADAMTS2 1 82182 1.21681E-5 41091 0 3.45967E-5
5-178608065-G-A c.975+8C>T splice_region ADAMTS2 3 82980 3.61533E-5 41490 0 1.59327E-4
5-178608079-A-G p.Tyr323Tyr synonymous ADAMTS2 4 83176 4.80908E-5 41588 0 1.5949E-4
5-178608083-C-T p.Ser322Asn missense ADAMTS2 2 83186 2.40425E-5 41593 0 9.56511E-5
5-178608088-G-A p.Leu320Leu synonymous ADAMTS2 1 83210 1.20178E-5 41605 0 1.5918E-5
5-178608098-C-T p.Arg317Gln missense ADAMTS2 2 83246 2.40252E-5 41623 0 1.19379E-5
5-178608108-C-T p.Val314Ile missense ADAMTS2 4 83264 4.804E-5 41632 0 1.65448E-5
5-178608112-G-A p.Asn312Asn synonymous ADAMTS2 2227 83196 0.0267681 41598 45 0.0294362
5-178608113-T-C p.Asn312Ser missense ADAMTS2 12 83260 1.44127E-4 41630 0 1.7108E-4
5-178608113-T-G p.Asn312Thr missense ADAMTS2 3 83260 3.60317E-5 41630 0 1.65396E-5
5-178608117-T-G p.Ile311Leu missense ADAMTS2 1 83268 1.20094E-5 41634 0 NA
5-178608130-G-C p.Ser306Ser synonymous ADAMTS2 2 83280 2.40154E-5 41640 0 1.65415E-5
5-178608130-G-A p.Ser306Ser synonymous ADAMTS2 1 83280 1.20077E-5 41640 0 8.27075E-6
5-178608136-G-A p.Asp304Asp synonymous ADAMTS2 6 83260 7.20634E-5 41630 0 5.03525E-4
5-178634507-C-CCCCCCCCCCCCA c.891+6_891+7insTGGGGGGGGGGG splice_region ADAMTS2 1 73914 1.35292E-5 36957 0 3.19448E-5
5-178634507-C-CCCCCCCCCCCCAA c.891+6_891+7insTTGGGGGGGGGGG splice_region ADAMTS2 2 73920 2.70563E-5 36960 0 8.07839E-6
5-178634508-A-C c.891+6T>G splice_region ADAMTS2 34 72608 4.68268E-4 36304 0 0.00157145
5-178634508-ACTCA-CCCCC c.891+2_891+6delTGAGTinsGGGGG splice_donor ADAMTS2 1 73116 1.36769E-5 36558 0 NA
5-178634510-T-C c.891+4A>G splice_region ADAMTS2 13 73626 1.76568E-4 36813 0 3.12175E-4
5-178634512-A-C c.891+2T>G splice_donor ADAMTS2 3 74884 4.0062E-5 37442 0 8.09389E-5
5-178634538-C-T p.Lys289Lys synonymous ADAMTS2 1 81354 1.2292E-5 40677 0 3.98581E-6
5-178634542-T-G p.Gln288Pro missense ADAMTS2 1 81674 1.22438E-5 40837 0 NA
5-178634546-CG-TA p.HisVal286HisIle missense ADAMTS2 2 81896 2.44212E-5 40948 0 NA
5-178634546-C-T p.Val287Ile missense ADAMTS2 3 81896 3.66318E-5 40948 0 0.00100705
5-178634547-G-A p.His286His synonymous ADAMTS2 14139 80714 0.175174 40357 1181 0.226083
5-178634558-C-T p.Gly283Arg missense ADAMTS2 7 82432 8.49185E-5 41216 0 9.92474E-5
5-178634559-G-A p.His282His synonymous ADAMTS2 3 82466 3.63786E-5 41233 0 3.30781E-5
5-178634575-G-C p.Ser277Cys missense ADAMTS2 1 82788 1.2079E-5 41394 0 NA
5-178634591-G-A p.Leu272Leu synonymous ADAMTS2 1 82840 1.20715E-5 41420 0 1.27494E-4
5-178634600-C-T p.Glu269Lys missense ADAMTS2 1 82864 1.2068E-5 41432 0 8.25764E-6
5-178634601-G-A p.Ile268Ile synonymous ADAMTS2 1 82842 1.20712E-5 41421 0 3.18634E-5
5-178634607-G-A p.Tyr266Tyr synonymous ADAMTS2 39 82868 4.70628E-4 41434 0 0.00151057
5-178634615-C-T p.Asp264Asn missense ADAMTS2 9 82854 1.08625E-4 41427 0 5.03525E-4
5-178634616-G-A p.Asp263Asp synonymous ADAMTS2 18 82846 2.17271E-4 41423 0 2.86642E-4
5-178634619-C-T p.Ala262Ala synonymous ADAMTS2 60402 67314 0.897317 33657 27069 0.933127
5-178634619-CGC-TGT p.Ala262Thr missense ADAMTS2 2 82828 2.41464E-5 41414 0 NA
5-178634621-C-T p.Ala262Thr missense ADAMTS2 20 82808 2.41523E-4 41404 0 2.55822E-4
5-178634626-T-C p.His260Arg missense ADAMTS2 1 82804 1.20767E-5 41402 0 NA
5-178634632-C-T p.Arg258His missense ADAMTS2 1 82724 1.20884E-5 41362 0 6.25E-4
5-178634633-G-A p.Arg258Cys missense ADAMTS2 1 82724 1.20884E-5 41362 0 1.19344E-5
5-178634635-G-T p.Ala257Glu missense ADAMTS2 9 82708 1.08817E-4 41354 0 2.86716E-4
5-178634638-C-G p.Arg256Thr missense ADAMTS2 1 82738 1.20863E-5 41369 0 NA
5-178634640-C-A p.Arg255Arg synonymous ADAMTS2 1 82724 1.20884E-5 41362 0 NA
5-178634641-C-T p.Arg255Gln missense ADAMTS2 34 82720 4.11025E-4 41360 0 0.003125
5-178634643-C-T p.Arg254Arg synonymous ADAMTS2 12 82686 1.45127E-4 41343 0 6.36608E-5
5-178634646-C-T p.Ser253Ser synonymous ADAMTS2 15 82650 1.81488E-4 41325 0 4.05886E-4
5-178634647-G-A p.Ser253Leu missense ADAMTS2 2 82622 2.42066E-5 41311 0 8.25873E-6
5-178634657-C-T p.Ala250Thr missense ADAMTS2 86 82606 0.00104109 41303 0 0.00251762
5-178634659-T-A p.His249Leu missense ADAMTS2 5 82602 6.05312E-5 41301 0 1.27429E-4
5-178634672-C-T p.Val245Ile missense ADAMTS2 25563 81286 0.314482 40643 4004 0.439375
5-178634673-G-A p.Gly244Gly synonymous ADAMTS2 19 82502 2.30297E-4 41251 0 3.50452E-4
5-178634674-C-T p.Gly244Asp missense ADAMTS2 2 82508 2.42401E-5 41254 0 5.03525E-4
5-178634681-C-T p.Ala242Thr missense ADAMTS2 46 82482 5.57697E-4 41241 0 0.00151057
5-178634682-G-A p.Arg241Arg synonymous ADAMTS2 4 82472 4.85013E-5 41236 0 1.03775E-4
5-178634683-C-T p.Arg241His missense ADAMTS2 7089 82256 0.0861822 41128 326 0.0886512
5-178634683-C-A p.Arg241Leu missense ADAMTS2 1 82466 1.21262E-5 41233 0 1.99604E-5
5-178634684-G-A p.Arg241Cys missense ADAMTS2 4 82488 4.84919E-5 41244 0 3.18552E-5
5-178634688-GAGGCTGTCC-G p.Asp237_Leu239del disruptive_inframe_deletion ADAMTS2 1 82486 1.21233E-5 41243 0 3.99351E-5
5-178634688-G-GAGGCTGTCC p.Leu239_Ser240insAspSerLeu disruptive_inframe_insertion ADAMTS2 1 82486 1.21233E-5 41243 0 1.66248E-5
5-178634693-T-G p.Ser238Arg missense ADAMTS2 1 82414 1.21339E-5 41207 0 8.33458E-6
5-178634695-T-G p.Asp237Ala missense ADAMTS2 7 82362 8.49907E-5 41181 0 1.00151E-4
5-178634696-C-A p.Asp237Tyr missense ADAMTS2 2 82334 2.42913E-5 41167 0 8.01276E-5
5-178634697-C-T p.Leu236Leu synonymous ADAMTS2 2 82324 2.42943E-5 41162 0 NA
5-178634697-C-G p.Leu236Leu synonymous ADAMTS2 3 82324 3.64414E-5 41162 0 8.33556E-6
5-178634703-G-A p.Asp234Asp synonymous ADAMTS2 1 82188 1.21672E-5 41094 0 NA
5-178634704-T-C p.Asp234Gly missense ADAMTS2 850 82146 0.0103474 41073 16 0.0201083
5-178634705-C-T p.Asp234Asn missense ADAMTS2 5 82142 6.08702E-5 41071 0 1.67087E-5
5-178634708-G-A p.Leu233Leu synonymous ADAMTS2 1 82110 1.21788E-5 41055 0 NA
5-178634713-G-A p.Ala231Val missense ADAMTS2 1 82010 1.21936E-5 41005 0 NA
5-178634714-C-T p.Ala231Thr missense+splice_region ADAMTS2 2 81966 2.44004E-5 40983 0 4.18704E-5
5-178634715-C-T p.Gly230Gly splice_region+synonymous ADAMTS2 3 81992 3.65889E-5 40996 0 3.35149E-5
5-178634716-C-A p.Gly230Val missense+splice_region ADAMTS2 1 82018 1.21924E-5 41009 0 1.67642E-5
5-178634716-C-T p.Gly230Glu missense+splice_region ADAMTS2 3 82018 3.65773E-5 41009 0 8.38209E-6
5-178634719-G-A c.689-3C>T splice_region ADAMTS2 1 81906 1.22091E-5 40953 0 NA
5-178634724-G-T c.689-8C>A splice_region ADAMTS2 1 81846 1.22181E-5 40923 0 3.18613E-5
5-178699911-C-T c.688+1G>A splice_donor ADAMTS2 4 82310 4.85968E-5 41155 0 NA
5-178699915-T-C p.Thr229Ala missense ADAMTS2 1 82400 1.21359E-5 41200 0 1.68384E-5
5-178699924-C-T p.Ala226Thr missense ADAMTS2 1 82596 1.21071E-5 41298 0 NA
5-178699927-G-A p.Gln225* stop_gained ADAMTS2 14 82672 1.69344E-4 41336 0 1.49197E-4
5-178699928-T-C p.Pro224Pro synonymous ADAMTS2 1 82674 1.20957E-5 41337 0 4.03054E-6
5-178699930-G-GC p.Pro224fs frameshift ADAMTS2 2 82680 2.41896E-5 41340 0 NA
5-178699931-C-A p.Gly223Gly synonymous ADAMTS2 1 82656 1.20983E-5 41328 0 NA
5-178699936-C-T p.Gly222Arg missense ADAMTS2 1 82734 1.20869E-5 41367 0 1.6769E-5
5-178699939-G-C p.Leu221Val missense ADAMTS2 5 82844 6.03544E-5 41422 0 5.21707E-5
5-178699945-G-A p.Pro219Ser missense ADAMTS2 2 82916 2.41208E-5 41458 0 3.3475E-5
5-178699947-G-A p.Ser218Phe missense ADAMTS2 4 82904 4.82486E-5 41452 0 1.20161E-5
5-178699949-C-T p.Thr217Thr synonymous ADAMTS2 4 82878 4.82637E-5 41439 0 1.27845E-4
5-178699950-G-A p.Thr217Met missense ADAMTS2 2 82924 2.41185E-5 41462 0 6.25E-4
5-178699953-G-A p.Pro216Leu missense ADAMTS2 1 82950 1.20555E-5 41475 0 NA
5-178699955-T-C p.Pro215Pro synonymous ADAMTS2 1 82890 1.20642E-5 41445 0 NA
5-178699959-C-T p.Arg214Gln missense ADAMTS2 4 82954 4.82195E-5 41477 0 5.00918E-5
5-178699960-G-A p.Arg214Trp missense ADAMTS2 3 82968 3.61585E-5 41484 0 5.03525E-4
5-178699962-C-T p.Arg213His missense ADAMTS2 6 82976 7.23101E-5 41488 0 1.2782E-4
5-178699963-G-A p.Arg213Cys missense ADAMTS2 1 83000 1.20482E-5 41500 0 8.34014E-6
5-178699982-G-T p.Gly206Gly synonymous ADAMTS2 3 83044 3.61254E-5 41522 0 3.98673E-6
5-178700000-C-T p.Ala200Ala synonymous ADAMTS2 3 83014 3.61385E-5 41507 0 4.9901E-5
5-178700001-G-A p.Ala200Val missense ADAMTS2 1 83014 1.20462E-5 41507 0 3.19061E-5
5-178700004-G-A p.Ala199Val missense ADAMTS2 42 83066 5.05622E-4 41533 0 0.00117197
5-178700004-G-T p.Ala199Glu missense ADAMTS2 1 83068 1.20383E-5 41534 0 8.31186E-6
5-178700012-C-T p.Lys196Lys synonymous ADAMTS2 12 83110 1.44387E-4 41555 0 2.23115E-4
5-178700035-ACTC-A p.Glu188del conservative_inframe_deletion ADAMTS2 1 83050 1.20409E-5 41525 0 8.2927E-6
5-178700037-T-C p.Glu188Gly missense ADAMTS2 1 83052 1.20406E-5 41526 0 8.29256E-6
5-178700038-C-G p.Glu188Gln missense ADAMTS2 18 83044 2.16753E-4 41522 0 0.00151057
5-178700045-C-G p.Glu185Asp missense ADAMTS2 1 82996 1.20488E-5 41498 0 1.27413E-4
5-178700052-C-T p.Arg183Gln missense ADAMTS2 4 83012 4.81858E-5 41506 0 4.14504E-5
5-178700053-G-A p.Arg183Trp missense ADAMTS2 4 82994 4.81963E-5 41497 0 3.18898E-5
5-178700068-G-T c.535-3C>A splice_region ADAMTS2 2 82890 2.41284E-5 41445 0 8.29091E-6
5-178700069-C-T c.535-4G>A splice_region ADAMTS2 3 82884 3.61952E-5 41442 0 1.19455E-5
5-178700072-G-C c.535-7C>G splice_region ADAMTS2 1 82850 1.207E-5 41425 0 2.48773E-5
5-178770777-G-A p.Cys175Cys synonymous ADAMTS2 16 74894 2.13635E-4 37447 0 0.00100908
5-178770789-C-A p.Ala171Ala synonymous ADAMTS2 4 75996 5.26344E-5 37998 0 6.36943E-5
5-178770806-C-T p.Glu166Lys missense ADAMTS2 1 76746 1.303E-5 38373 0 NA
5-178770818-C-T p.Ala162Thr missense ADAMTS2 1 76916 1.30012E-5 38458 0 NA
5-178770828-G-A p.Val158Val synonymous ADAMTS2 2 76810 2.60383E-5 38405 0 3.18431E-5
5-178770841-C-T p.Ser154Asn missense ADAMTS2 3 76756 3.90849E-5 38378 0 5.04541E-4
5-178770846-G-C p.Leu152Leu synonymous ADAMTS2 2 76504 2.61424E-5 38252 0 NA
5-178770853-G-C p.Pro150Arg missense ADAMTS2 1 76286 1.31086E-5 38143 0 3.18552E-5
5-178770860-C-A p.Val148Leu missense ADAMTS2 1 75820 1.31891E-5 37910 0 NA
5-178770860-C-T p.Val148Met missense ADAMTS2 8 75820 1.05513E-4 37910 0 3.85576E-5
5-178770865-G-C p.Thr146Ser missense ADAMTS2 1 75702 1.32097E-5 37851 0 NA
5-178770879-G-A p.Gly141Gly synonymous ADAMTS2 16 74588 2.14512E-4 37294 0 5.61705E-4
5-178770897-G-A p.Ala135Ala synonymous ADAMTS2 3 77736 3.85922E-5 38868 0 1.33021E-5
5-178770902-C-T p.Gly134Arg missense ADAMTS2 1 77436 1.29139E-5 38718 0 NA
5-178770929-G-A p.Arg125Trp missense ADAMTS2 5 78362 6.38064E-5 39181 0 3.11915E-4
5-178770957-G-A p.Val115Val synonymous ADAMTS2 1 79242 1.26196E-5 39621 0 NA
5-178770963-G-A p.Val113Val synonymous ADAMTS2 1 79260 1.26167E-5 39630 0 3.747E-5
5-178770981-A-G p.Ser107Ser synonymous ADAMTS2 25450 77334 0.329092 38667 4473 0.409445
5-178770992-C-T p.Glu104Lys missense ADAMTS2 1 78348 1.27636E-5 39174 0 NA
5-178770998-C-T p.Glu102Lys missense ADAMTS2 1 78160 1.27943E-5 39080 0 4.079E-6
5-178770999-G-T p.Asn101Lys missense ADAMTS2 2 78056 2.56226E-5 39028 0 3.18471E-5
5-178771008-G-C p.Pro98Pro synonymous ADAMTS2 1 77546 1.28956E-5 38773 0 4.09413E-6
5-178771015-C-G p.Ser96Thr missense ADAMTS2 1 77006 1.2986E-5 38503 0 NA
5-178771021-G-A p.Thr94Ile missense ADAMTS2 1 76420 1.30856E-5 38210 0 NA
5-178771029-C-G p.Pro91Pro synonymous ADAMTS2 2 75580 2.6462E-5 37790 0 3.18532E-5
5-178771033-G-A p.Ala90Val missense ADAMTS2 5 75208 6.64823E-5 37604 0 NA
5-178771034-C-T p.Ala90Thr missense ADAMTS2 2 74982 2.66731E-5 37491 0 1.25811E-4
5-178771042-C-A p.Arg87Leu missense ADAMTS2 7 74246 9.42812E-5 37123 0 3.43723E-4
5-178771045-G-T p.Ala86Asp missense ADAMTS2 1 73982 1.35168E-5 36991 0 9.04781E-6
5-178771059-T-C p.Arg81Arg synonymous ADAMTS2 1 72422 1.3808E-5 36211 0 NA
5-178771061-T-C p.Arg81Gly missense ADAMTS2 1 72346 1.38225E-5 36173 0 NA
5-178771061-T-G p.Arg81Arg synonymous ADAMTS2 1 72346 1.38225E-5 36173 0 8.3334E-6
5-178771066-G-C p.Thr79Arg missense ADAMTS2 1 71650 1.39567E-5 35825 0 NA
5-178771082-C-T p.Val74Met missense ADAMTS2 33 69200 4.76879E-4 34600 1 0.00191781
5-178771083-G-A p.His73His synonymous ADAMTS2 1 69102 1.44714E-5 34551 0 4.19178E-6
5-178771119-G-C p.Pro61Pro synonymous ADAMTS2 4 61806 6.47186E-5 30903 0 4.61553E-5
5-178771132-A-T p.Ile57Asn missense ADAMTS2 1 59172 1.68999E-5 29586 0 NA
5-178771134-G-A p.Arg56Arg synonymous ADAMTS2 1 58468 1.71034E-5 29234 0 4.56842E-6
5-178771135-C-T p.Arg56His missense ADAMTS2 8 57996 1.37941E-4 28998 0 2.23172E-4
5-178771141-G-A p.Ala54Val missense ADAMTS2 1 56280 1.77683E-5 28140 0 2.19703E-4
5-178771145-C-G p.Gly53Arg missense ADAMTS2 1 55506 1.80161E-5 27753 0 9.58139E-6
5-178771160-C-G p.Gly48Arg missense+splice_region ADAMTS2 1 53244 1.87815E-5 26622 0 3.62358E-5
5-178771170-G-C c.140-8C>G splice_region ADAMTS2 1 51320 1.94856E-5 25660 0 3.18532E-5
5-178772187-C-T c.139+4G>A splice_region ADAMTS2 15 30248 4.95901E-4 15124 0 0.00143767
5-178772199-T-TCGG p.Ala43dup conservative_inframe_insertion ADAMTS2 20 30100 6.64452E-4 15050 0 0.00189313
5-178772199-TCGG-T p.Ala43del disruptive_inframe_deletion ADAMTS2 1 30084 3.32403E-5 15042 0 NA
5-178772214-A-G p.Leu39Pro missense ADAMTS2 1 30466 3.28235E-5 15233 0 NA
5-178772220-G-A p.Ala37Val missense ADAMTS2 3 30598 9.80456E-5 15299 0 NA
5-178772222-G-T p.Asn36Lys missense ADAMTS2 2 30602 6.53552E-5 15301 0 3.58809E-5
5-178772222-G-A p.Asn36Asn synonymous ADAMTS2 1 30602 3.26776E-5 15301 0 NA
5-178772225-C-G p.Ala35Ala synonymous ADAMTS2 1 30544 3.27397E-5 15272 0 NA
5-178772228-GGGC-G p.Pro34del disruptive_inframe_deletion ADAMTS2 4 30400 1.31579E-4 15200 0 0.0026738
5-178772228-G-GGGC p.Pro34dup disruptive_inframe_insertion ADAMTS2 2 30574 6.54151E-5 15287 0 1.81265E-4
5-178772228-G-T p.Pro34Pro synonymous ADAMTS2 1 30574 3.27075E-5 15287 0 3.62529E-5
5-178772228-G-A p.Pro34Pro synonymous ADAMTS2 1 30574 3.27075E-5 15287 0 NA
5-178772228-G-GGGCGGCGGCGGCGGCGGCAGGAGC p.Pro34_Ala35insLeuLeuProProProProProPro disruptive_inframe_insertion ADAMTS2 1 30574 3.27075E-5 15287 0 NA
5-178772229-G-GGCGGCGGCGGCGGCGGCAGGA p.Leu27_Pro33dup conservative_inframe_insertion ADAMTS2 117 30468 0.00384009 15234 1 0.0068306
5-178772229-GGCGGCGGCGGCGGCGGCAGGA-G p.Leu27_Pro33del disruptive_inframe_deletion ADAMTS2 1 30540 3.27439E-5 15270 0 NA
5-178772231-C-T p.Pro33Pro synonymous ADAMTS2 1 30470 3.28192E-5 15235 0 NA
5-178772231-C-A p.Pro33Pro synonymous ADAMTS2 4 30470 1.31277E-4 15235 0 NA
5-178772236-G-A p.Pro32Ser missense ADAMTS2 9 30670 2.93446E-4 15335 0 9.09223E-4
5-178772241-G-GGCGGCAGGA p.Leu27_Pro29dup conservative_inframe_insertion ADAMTS2 143 30690 0.0046595 15345 1 0.0114207
5-178772243-C-T p.Pro29Pro synonymous ADAMTS2 2 30704 6.51381E-5 15352 0 NA
5-178772245-G-A p.Pro29Ser missense ADAMTS2 1 30788 3.24802E-5 15394 0 NA
5-178772250-AGCG-A p.Pro26del disruptive_inframe_deletion ADAMTS2 1 30888 3.2375E-5 15444 0 0.00171233
5-178772250-A-AGCG p.Pro26dup conservative_inframe_insertion ADAMTS2 35 30896 0.00113283 15448 0 0.00108193
5-178772256-G-T p.Pro25Gln missense ADAMTS2 2 30834 6.48635E-5 15417 0 NA
5-178772257-G-C p.Pro25Ala missense ADAMTS2 1 30844 3.24212E-5 15422 0 NA
5-178772259-G-GGCA p.Leu23dup conservative_inframe_insertion ADAMTS2 4604 30596 0.150477 15298 251 0.406977
5-178772259-GGCA-G p.Leu23del disruptive_inframe_deletion ADAMTS2 53 29888 0.00177329 14944 0 0.0232558
5-178772259-GGCAGCA-G p.Leu22_Leu23del disruptive_inframe_deletion ADAMTS2 1 30846 3.24191E-5 15423 0 1.11334E-4
5-178772259-G-GGCAGCA p.Leu22_Leu23dup conservative_inframe_insertion ADAMTS2 13 30850 4.21394E-4 15425 0 8.96057E-4
5-178772259-G-A p.Pro24Leu missense ADAMTS2 1 30850 3.24149E-5 15425 0 0.0392442
5-178772259-G-GGCAGCAGCA p.Leu21_Leu23dup conservative_inframe_insertion ADAMTS2 3 30850 9.72447E-5 15425 0 1.11334E-4
5-178772259-G-GGCAGCAGCAGCAGCGGCA p.Leu23_Pro24insLeuProLeuLeuLeuLeu conservative_inframe_insertion ADAMTS2 1 30850 3.24149E-5 15425 0 NA
5-178772261-C-CAGCAGCAGCAGA p.Leu20_Leu23dup disruptive_inframe_insertion ADAMTS2 1 30782 3.24865E-5 15391 0 NA
5-178772262-A-G p.Leu23Pro missense ADAMTS2 244 30666 0.00795669 15333 1 0.027933
5-178772268-A-T p.Leu21Gln missense ADAMTS2 1 31070 3.21854E-5 15535 0 NA
5-178772278-G-GCAA p.Leu17dup conservative_inframe_insertion ADAMTS2 13 31130 4.17604E-4 15565 0 1.41774E-4
5-178772290-G-A p.Pro14Ser missense ADAMTS2 1 31140 3.2113E-5 15570 0 3.53107E-5
5-178772301-C-T p.Arg10His missense ADAMTS2 1 30990 3.22685E-5 15495 0 NA
5-178772308-C-A p.Ala8Ser missense ADAMTS2 2 30946 6.46287E-5 15473 0 3.48408E-5
5-178772309-G-A p.Ala7Ala synonymous ADAMTS2 1 30994 3.22643E-5 15497 0 NA
5-178772316-G-A p.Ala5Val missense ADAMTS2 1 30922 3.23394E-5 15461 0 NA
5-178772334-G-A c.-5C>T 5_prime_UTR_premature_start_codon_gain ADAMTS2 1 30848 3.2417E-5 15424 0 NA