Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-128796006-C-T c.-97C>T 5_prime_UTR_premature_start_codon_gain ADAMTS19 1 48248 2.07262E-5 24124 0 NA
5-128796007-G-T c.-96G>T 5_prime_UTR_premature_start_codon_gain ADAMTS19 119 49092 0.00242402 24546 0 0.00277027
5-128796053-C-T c.-50C>T 5_prime_UTR_premature_start_codon_gain ADAMTS19 1 69064 1.44793E-5 34532 0 8.50644E-6
5-128796065-C-T c.-38C>T 5_prime_UTR_premature_start_codon_gain ADAMTS19 1 72284 1.38343E-5 36142 0 5.07666E-5
5-128796068-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain ADAMTS19 1 72874 1.37223E-5 36437 0 NA
5-128796106-C-A p.Arg2Ser missense ADAMTS19 1 80484 1.24248E-5 40242 0 NA
5-128796132-C-T p.Cys10Cys synonymous ADAMTS19 1 82404 1.21353E-5 41202 0 NA
5-128796135-C-T p.Leu11Leu synonymous ADAMTS19 1 82484 1.21236E-5 41242 0 NA
5-128796150-G-T p.Gly16Gly synonymous ADAMTS19 1 82730 1.20875E-5 41365 0 1.59124E-5
5-128796154-C-T p.Leu18Leu synonymous ADAMTS19 2 82780 2.41604E-5 41390 0 3.97785E-6
5-128796168-C-T p.Ile22Ile synonymous ADAMTS19 59 82844 7.12182E-4 41422 0 0.00194379
5-128796168-C-G p.Ile22Met missense ADAMTS19 3 82850 3.621E-5 41425 0 5.77682E-5
5-128796173-C-T p.Ser24Leu missense+splice_region ADAMTS19 2 82872 2.41336E-5 41436 0 NA
5-128796174-A-G p.Ser24Ser splice_region+synonymous ADAMTS19 2 82864 2.41359E-5 41432 0 3.9776E-6
5-128796801-A-T p.Gln27Leu missense ADAMTS19 1 38160 2.62055E-5 19080 0 2.72183E-4
5-128796810-C-T p.Pro30Leu missense ADAMTS19 1 38284 2.61206E-5 19142 0 NA
5-128796815-C-G p.Arg32Gly missense ADAMTS19 63 38318 0.00164414 19159 0 0.00181992
5-128796818-G-T p.Glu33* stop_gained ADAMTS19 1 38310 2.61028E-5 19155 0 NA
5-128796842-G-C p.Ala41Pro missense ADAMTS19 1 37794 2.64592E-5 18897 0 NA
5-128796843-C-A p.Ala41Glu missense ADAMTS19 1 37682 2.65379E-5 18841 0 NA
5-128796862-G-A p.Pro47Pro synonymous ADAMTS19 1 36616 2.73105E-5 18308 0 1.60689E-4
5-128796869-C-A p.Pro50Thr missense ADAMTS19 5 36428 1.37257E-4 18214 0 6.50054E-5
5-128796879-GCAGC-G p.Ser54fs frameshift ADAMTS19 1 35592 2.80962E-5 17796 0 3.23269E-5
5-128796881-A-C p.Ser54Arg missense ADAMTS19 43 35532 0.00121018 17766 0 0.00383436
5-128796885-G-C p.Gly55Ala missense ADAMTS19 2 35510 5.63222E-5 17755 0 3.22977E-5
5-128796893-G-A p.Ala58Thr missense ADAMTS19 524 35124 0.0149186 17562 13 0.0422794
5-128796907-G-C p.Trp62Cys missense ADAMTS19 1 32862 3.04303E-5 16431 0 NA
5-128796907-G-T p.Trp62Cys missense ADAMTS19 2 32862 6.08606E-5 16431 0 6.46454E-5
5-128796911-C-A p.Arg64Ser missense ADAMTS19 1 32444 3.08223E-5 16222 0 6.4771E-5
5-128796911-C-G p.Arg64Gly missense ADAMTS19 1 32444 3.08223E-5 16222 0 NA
5-128796938-C-A p.Arg73Arg synonymous ADAMTS19 1 32270 3.09885E-5 16135 0 NA
5-128796948-C-A p.Ala76Asp missense ADAMTS19 1 32460 3.08071E-5 16230 0 NA
5-128796952-C-A p.Ala77Ala synonymous ADAMTS19 1 32500 3.07692E-5 16250 0 NA
5-128796953-G-C p.Gly78Arg missense ADAMTS19 2 32510 6.15195E-5 16255 0 NA
5-128796963-G-C p.Arg81Pro missense ADAMTS19 1 32906 3.03896E-5 16453 0 NA
5-128796973-C-T p.Arg84Arg synonymous ADAMTS19 2 33242 6.01649E-5 16621 0 NA
5-128797010-G-A p.Gly97Ser missense ADAMTS19 1 35314 2.83174E-5 17657 0 NA
5-128797014-G-C p.Arg98Pro missense ADAMTS19 3 35382 8.47889E-5 17691 0 0.0106383
5-128797014-G-A p.Arg98Gln missense ADAMTS19 1 35382 2.8263E-5 17691 0 3.21771E-5
5-128797020-A-T p.Glu100Val missense ADAMTS19 1 35554 2.81262E-5 17777 0 NA
5-128797021-G-A p.Glu100Glu synonymous ADAMTS19 1 35674 2.80316E-5 17837 0 NA
5-128797031-C-T p.Arg104Trp missense ADAMTS19 1 35670 2.80348E-5 17835 0 NA
5-128797034-C-T p.Pro105Ser missense ADAMTS19 1 35700 2.80112E-5 17850 0 NA
5-128797034-C-G p.Pro105Ala missense ADAMTS19 1 35700 2.80112E-5 17850 0 NA
5-128797037-C-T p.Pro106Ser missense ADAMTS19 3 35816 8.37614E-5 17908 0 NA
5-128797038-C-T p.Pro106Leu missense ADAMTS19 1 35742 2.79783E-5 17871 0 3.2202E-5
5-128797041-C-T p.Pro107Leu missense ADAMTS19 1 35722 2.7994E-5 17861 0 NA
5-128797050-A-T p.Glu110Val missense ADAMTS19 1 36064 2.77285E-5 18032 0 NA
5-128797061-G-A p.Asp114Asn missense ADAMTS19 3 36694 8.17572E-5 18347 0 NA
5-128797064-G-A p.Glu115Lys missense ADAMTS19 1 36608 2.73164E-5 18304 0 NA
5-128797105-G-A p.Gly128Gly synonymous ADAMTS19 4681 38244 0.122398 19122 333 0.255814
5-128797112-G-C p.Ala131Pro missense ADAMTS19 1 39142 2.5548E-5 19571 0 NA
5-128797114-C-T p.Ala131Ala synonymous ADAMTS19 1 39354 2.54104E-5 19677 0 NA
5-128797126-C-A p.Gly135Gly synonymous ADAMTS19 1 39666 2.52105E-5 19833 0 4.93291E-5
5-128797137-C-T p.Ser139Leu missense ADAMTS19 8 40628 1.96909E-4 20314 0 0.00132626
5-128797137-C-G p.Ser139Trp missense ADAMTS19 3 40628 7.38407E-5 20314 0 0.00616333
5-128797138-G-T p.Ser139Ser synonymous ADAMTS19 2 40512 4.93681E-5 20256 0 NA
5-128797144-GCCGCCGCCTCCC-G p.Pro143_Pro146del disruptive_inframe_deletion ADAMTS19 1 40864 2.44714E-5 20432 0 1.28074E-4
5-128797146-C-T p.Pro142Leu missense ADAMTS19 2 40906 4.88926E-5 20453 0 NA
5-128797149-C-T p.Pro143Leu missense ADAMTS19 71 41212 0.0017228 20606 0 0.00281636
5-128797154-C-A p.Pro145Thr missense ADAMTS19 1 41792 2.3928E-5 20896 0 NA
5-128797155-CC-TG p.Pro145Leu missense ADAMTS19 32 41860 7.64453E-4 20930 0 NA
5-128797155-C-T p.Pro145Leu missense ADAMTS19 5 41860 1.19446E-4 20930 0 6.55308E-4
5-128797156-C-G p.Pro145Pro synonymous ADAMTS19 5259 41568 0.126516 20784 429 0.221022
5-128797158-C-A p.Pro146Gln missense ADAMTS19 2 42098 4.75082E-5 21049 0 4.41865E-5
5-128797159-G-T p.Pro146Pro synonymous ADAMTS19 8 41726 1.91727E-4 20863 0 7.67902E-4
5-128797162-GC-TT p.GlnPro147HisSer missense ADAMTS19 1 42256 2.36653E-5 21128 0 NA
5-128797166-C-G p.Pro149Ala missense ADAMTS19 1 42812 2.33579E-5 21406 0 2.58752E-5
5-128797166-C-A p.Pro149Thr missense ADAMTS19 1 42812 2.33579E-5 21406 0 NA
5-128797170-C-T p.Pro150Leu missense ADAMTS19 1 43464 2.30075E-5 21732 0 NA
5-128797172-T-G p.Ser151Ala missense ADAMTS19 2 43484 4.59939E-5 21742 0 NA
5-128797176-C-T p.Pro152Leu missense ADAMTS19 2 44302 4.51447E-5 22151 0 NA
5-128797183-G-A p.Pro154Pro synonymous ADAMTS19 1 44886 2.22787E-5 22443 0 NA
5-128797184-G-A p.Ala155Thr missense ADAMTS19 7 45334 1.54409E-4 22667 0 7.66284E-4
5-128797207-C-A p.Gly162Gly synonymous ADAMTS19 1 50046 1.99816E-5 25023 0 NA
5-128797210-C-T p.Asp163Asp synonymous ADAMTS19 5 51086 9.78742E-5 25543 0 2.74675E-4
5-128797210-C-A p.Asp163Glu missense ADAMTS19 1 51086 1.95748E-5 25543 0 NA
5-128797215-T-C p.Val165Ala missense ADAMTS19 3 52430 5.72191E-5 26215 0 NA
5-128797226-ATCCCGGCCT-A p.Pro170_Phe172del conservative_inframe_deletion ADAMTS19 1 55298 1.80838E-5 27649 0 NA
5-128797228-C-G p.Ile169Met missense ADAMTS19 1 55912 1.78852E-5 27956 0 NA
5-128797242-G-C p.Arg174Pro missense ADAMTS19 1 59644 1.67661E-5 29822 0 NA
5-128797249-G-A p.Leu176Leu synonymous ADAMTS19 2 62316 3.20945E-5 31158 0 5.1282E-4
5-128797258-G-C p.Leu179Leu synonymous ADAMTS19 221 64316 0.00343616 32158 1 0.00813835
5-128797270-C-T p.Asp183Asp synonymous ADAMTS19 2 66824 2.99294E-5 33412 0 6.28931E-4
5-128797270-C-G p.Asp183Glu missense ADAMTS19 1 66824 1.49647E-5 33412 0 NA
5-128797271-G-A p.Gly184Ser missense ADAMTS19 16 66844 2.39363E-4 33422 0 4.74957E-4
5-128797271-G-T p.Gly184Cys missense ADAMTS19 1 66846 1.49598E-5 33423 0 4.31779E-5
5-128797286-C-G p.Pro189Ala missense ADAMTS19 1 69730 1.4341E-5 34865 0 NA
5-128797293-T-A p.Phe191Tyr missense ADAMTS19 1 71622 1.39622E-5 35811 0 4.12712E-5
5-128797301-G-C p.Glu194Gln missense ADAMTS19 1 73256 1.36508E-5 36628 0 NA
5-128797301-G-A p.Glu194Lys missense ADAMTS19 1 73256 1.36508E-5 36628 0 1.727E-5
5-128797302-AACA-CCCC p.GluGln194AlaPro missense ADAMTS19 1 73282 1.36459E-5 36641 0 NA
5-128797311-C-T p.Pro197Leu missense ADAMTS19 2 74072 2.70008E-5 37036 0 6.47543E-5
5-128797312-A-C p.Pro197Pro synonymous ADAMTS19 1 74306 1.34579E-5 37153 0 NA
5-128797313-A-C p.Asn198His missense ADAMTS19 1 74472 1.34279E-5 37236 0 NA
5-128797314-A-C p.Asn198Thr missense ADAMTS19 1 74624 1.34005E-5 37312 0 NA
5-128797315-T-TCCCGGC p.Gly202_Pro203dup conservative_inframe_insertion ADAMTS19 9100 74356 0.122384 37178 640 0.163614
5-128797318-C-G p.Pro199Pro synonymous ADAMTS19 1 75362 1.32693E-5 37681 0 NA
5-128797320-G-A p.Gly200Asp missense ADAMTS19 2 75550 2.64725E-5 37775 0 NA
5-128797323-C-T p.Pro201Leu missense ADAMTS19 1 76020 1.31544E-5 38010 0 1.04482E-5
5-128797324-C-CGGCCCG p.Pro203_Thr204insGlyPro disruptive_inframe_insertion ADAMTS19 1 76196 1.3124E-5 38098 0 NA
5-128797325-G-A p.Gly202Ser missense ADAMTS19 455 75970 0.00598921 37985 3 0.0142201
5-128797326-G-A p.Gly202Asp missense ADAMTS19 4 76318 5.24123E-5 38159 0 6.29851E-4
5-128797329-C-CCGGCCG p.Pro203_Thr204insGlyArg conservative_inframe_insertion ADAMTS19 13 76952 1.68936E-4 38476 0 3.07217E-4
5-128797332-C-A p.Thr204Lys missense ADAMTS19 1 77050 1.29786E-5 38525 0 NA
5-128797335-G-A p.Gly205Glu missense ADAMTS19 2 77356 2.58545E-5 38678 0 NA
5-128797340-G-T p.Ala207Ser missense ADAMTS19 2 77948 2.56581E-5 38974 0 6.37064E-5
5-128797346-G-A p.Ala209Thr missense ADAMTS19 1 78638 1.27165E-5 39319 0 6.3743E-5
5-128797347-C-T p.Ala209Val missense ADAMTS19 2 78864 2.53601E-5 39432 0 6.37064E-5
5-128797350-C-G p.Pro210Arg missense ADAMTS19 3 79146 3.79046E-5 39573 0 NA
5-128797351-G-T p.Pro210Pro synonymous ADAMTS19 1 79144 1.26352E-5 39572 0 NA
5-128797358-C-T p.Pro213Ser missense ADAMTS19 1 80060 1.24906E-5 40030 0 NA
5-128797367-C-T p.Pro216Ser missense ADAMTS19 1 80640 1.24008E-5 40320 0 8.9572E-6
5-128797368-C-T p.Pro216Leu missense ADAMTS19 68 80702 8.42606E-4 40351 0 0.0016241
5-128797395-C-G p.Ala225Gly missense ADAMTS19 1 82006 1.21942E-5 41003 0 1.79675E-5
5-128797408-C-T p.His229His synonymous ADAMTS19 1 82128 1.21761E-5 41064 0 2.32891E-5
5-128797410-C-G p.Pro230Arg missense ADAMTS19 1 82150 1.21729E-5 41075 0 NA
5-128797425-C-T p.Ser235Phe missense ADAMTS19 1 82434 1.21309E-5 41217 0 NA
5-128797430-A-G p.Ser237Gly missense ADAMTS19 1 82366 1.21409E-5 41183 0 5.03525E-4
5-128797431-G-A p.Ser237Asn missense ADAMTS19 1 82372 1.214E-5 41186 0 1.82852E-5
5-128797441-A-T p.Gly240Gly synonymous ADAMTS19 1 82336 1.21454E-5 41168 0 NA
5-128797457-G-A c.729+7G>A splice_region ADAMTS19 10 81900 1.221E-4 40950 0 2.85593E-4
5-128844763-A-T c.730-7A>T splice_region ADAMTS19 1 80990 1.23472E-5 40495 0 4.36384E-6
5-128844781-A-C p.Thr29Pro missense ADAMTS19 1 81706 1.2239E-5 40853 0 NA
5-128844787-C-T p.Gln31* stop_gained ADAMTS19 2 81818 2.44445E-5 40909 0 3.18837E-5
5-128844793-G-A p.Glu251Glu synonymous ADAMTS19 1 81936 1.22046E-5 40968 0 NA
5-128844802-A-ATTTATGTAC p.Phe255_Ile256insMetTyrPhe disruptive_inframe_insertion ADAMTS19 1 82056 1.21868E-5 41028 0 NA
5-128844814-A-G p.Pro258Pro synonymous ADAMTS19 1 82184 1.21678E-5 41092 0 4.01101E-6
5-128844818-A-C p.Asn260His missense ADAMTS19 1 82250 1.21581E-5 41125 0 NA
5-128844827-A-G p.Met263Val missense ADAMTS19 8 82312 9.71912E-5 41156 0 2.54956E-4
5-128844833-A-G p.Ile265Val missense ADAMTS19 3 82334 3.6437E-5 41167 0 6.37349E-5
5-128844836-A-G p.Thr266Ala missense ADAMTS19 1 82376 1.21395E-5 41188 0 NA
5-128844838-A-G p.Thr266Thr synonymous ADAMTS19 9079 82154 0.110512 41077 568 0.1375
5-128844852-G-A p.Arg271His missense ADAMTS19 1 82492 1.21224E-5 41246 0 5.03525E-4
5-128844863-C-T p.Gln275* stop_gained ADAMTS19 1 82604 1.2106E-5 41302 0 NA
5-128844864-A-C p.Gln275Pro missense ADAMTS19 1 82642 1.21004E-5 41321 0 3.99243E-6
5-128844884-A-G p.Lys282Glu missense ADAMTS19 3 82736 3.62599E-5 41368 0 6.37714E-5
5-128844898-G-T p.Lys286Asn missense ADAMTS19 3 82708 3.62722E-5 41354 0 1.87611E-4
5-128844914-C-T p.His292Tyr missense ADAMTS19 15 82652 1.81484E-4 41326 0 3.19061E-5
5-128844919-C-T p.Tyr293Tyr synonymous ADAMTS19 2 82622 2.42066E-5 41311 0 0.0025
5-128844923-G-A p.Gly295Ser missense ADAMTS19 1 82584 1.21089E-5 41292 0 NA
5-128844941-T-C c.895+6T>C splice_region ADAMTS19 1 82386 1.2138E-5 41193 0 3.18959E-5
5-128861970-G-A c.896-7G>A splice_region ADAMTS19 2 82506 2.42407E-5 41253 0 6.37918E-5
5-128861976-G-C c.896-1G>C splice_acceptor ADAMTS19 1 82556 1.2113E-5 41278 0 4.82756E-6
5-128861979-A-G p.Lys300Glu missense+splice_region ADAMTS19 3 82566 3.63346E-5 41283 0 3.18837E-5
5-128861981-A-G p.Lys300Lys synonymous ADAMTS19 1 82576 1.21101E-5 41288 0 NA
5-128861983-G-A p.Gly301Glu missense ADAMTS19 1 82588 1.21083E-5 41294 0 NA
5-128862014-T-C p.Ser311Ser synonymous ADAMTS19 2 82760 2.41663E-5 41380 0 5.03525E-4
5-128862017-A-G p.Gly312Gly synonymous ADAMTS19 1 82758 1.20834E-5 41379 0 NA
5-128862018-A-G p.Arg313Gly missense ADAMTS19 1 82764 1.20825E-5 41382 0 NA
5-128862027-C-T p.Arg316* stop_gained ADAMTS19 1 82728 1.20878E-5 41364 0 4.25883E-6
5-128862029-A-T p.Arg316Arg synonymous ADAMTS19 1 82728 1.20878E-5 41364 0 NA
5-128862036-T-A p.Tyr319Asn missense ADAMTS19 1 82702 1.20916E-5 41351 0 NA
5-128862061-T-C p.Ile327Thr missense ADAMTS19 2 82636 2.42025E-5 41318 0 8.26761E-6
5-128862061-T-G p.Ile327Arg missense ADAMTS19 2 82636 2.42025E-5 41318 0 NA
5-128862070-T-C p.Val330Ala missense ADAMTS19 1 82624 1.2103E-5 41312 0 NA
5-128862090-A-G p.Met337Val missense ADAMTS19 1 82636 1.21013E-5 41318 0 8.25546E-6
5-128862100-A-G p.Tyr340Cys missense ADAMTS19 3 82692 3.62792E-5 41346 0 5.41261E-5
5-128862104-T-C p.His341His synonymous ADAMTS19 2 82716 2.41791E-5 41358 0 NA
5-128862113-T-G p.Asp344Glu missense ADAMTS19 1 82716 1.20896E-5 41358 0 4.1753E-6
5-128862124-G-A p.Arg348Lys missense ADAMTS19 1 82818 1.20747E-5 41409 0 NA
5-128862139-T-A p.Ile353Asn missense ADAMTS19 1 82790 1.20788E-5 41395 0 2.3812E-4
5-128862145-A-AGGGCAT p.Asn355delinsLysGlyIle disruptive_inframe_insertion ADAMTS19 1 82772 1.20814E-5 41386 0 NA
5-128862147-A-G p.Met356Val missense+splice_region ADAMTS19 5 82754 6.042E-5 41377 0 NA
5-128862155-CAAACTTT-C p.Leu144fs frameshift ADAMTS19 1 82682 1.20945E-5 41341 0 NA
5-128862161-T-TAA p.Ter145fs frameshift ADAMTS19 1 82658 1.2098E-5 41329 0 NA
5-128862204-CAT-C c.*41_*42delAT splice_region ADAMTS19 318 81590 0.00389754 40795 3 0.00705484
5-128862207-G-T c.*43G>T splice_region ADAMTS19 2 81386 2.45743E-5 40693 0 NA
5-128863442-T-C p.Val357Ala missense+splice_region ADAMTS19 2 73288 2.72896E-5 36644 0 NA
5-128863448-A-G p.Asn359Ser missense ADAMTS19 2 74450 2.68637E-5 37225 0 1.68311E-5
5-128863458-A-G p.Gln362Gln synonymous ADAMTS19 2 75740 2.64061E-5 37870 0 NA
5-128863465-A-C p.Ser365Arg missense ADAMTS19 1 76490 1.30736E-5 38245 0 NA
5-128863471-A-G p.Ser367Gly missense ADAMTS19 74753 75070 0.995777 37535 37228 0.997468
5-128863473-T-C p.Ser367Ser synonymous ADAMTS19 1 76850 1.30124E-5 38425 0 NA
5-128863474-G-A p.Val368Met missense ADAMTS19 2 76904 2.60064E-5 38452 0 NA
5-128863483-A-G p.Asn371Asp missense ADAMTS19 2 77234 2.58953E-5 38617 0 NA
5-128863484-A-G p.Asn371Ser missense ADAMTS19 5 77260 6.47165E-5 38630 0 0.00100806
5-128863489-C-T p.Arg373Cys missense ADAMTS19 1 77222 1.29497E-5 38611 0 2.02636E-5
5-128863490-G-A p.Arg373His missense ADAMTS19 5 77184 6.47803E-5 38592 0 2.50715E-5
5-128863495-A-T p.Ile375Leu missense ADAMTS19 1 77374 1.29242E-5 38687 0 1.67149E-5
5-128863513-C-T p.His381Tyr missense ADAMTS19 1 76786 1.30232E-5 38393 0 8.36246E-6
5-128863515-T-G p.His381Gln missense ADAMTS19 1 76656 1.30453E-5 38328 0 NA
5-128863517-A-T p.Glu382Val missense ADAMTS19 1 76588 1.30569E-5 38294 0 4.18165E-5
5-128863518-A-G p.Glu382Glu synonymous ADAMTS19 2731 76206 0.0358371 38103 64 0.054717
5-128864207-T-C c.1153-6T>C splice_region ADAMTS19 1 82700 1.20919E-5 41350 0 9.55165E-6
5-128864212-G-T c.1153-1G>T splice_acceptor ADAMTS19 1 82848 1.20703E-5 41424 0 NA
5-128864219-C-A p.Leu387Ile missense ADAMTS19 2 82988 2.40999E-5 41494 0 1.72628E-5
5-128864240-G-GA p.Met396fs frameshift ADAMTS19 1 83034 1.20433E-5 41517 0 NA
5-128864249-C-T p.Leu397Leu synonymous ADAMTS19 1 83054 1.20404E-5 41527 0 2.5015E-5
5-128864254-G-T p.Glu398Asp missense ADAMTS19 6 83054 7.22422E-5 41527 0 3.32773E-5
5-128864269-G-A p.Trp403* stop_gained ADAMTS19 1 83028 1.20441E-5 41514 0 NA
5-128864273-C-T p.His405Tyr missense ADAMTS19 1 83036 1.2043E-5 41518 0 8.30358E-6
5-128864274-A-G p.His405Arg missense ADAMTS19 2 83038 2.40854E-5 41519 0 8.21335E-6
5-128864279-G-A p.Glu407Lys missense ADAMTS19 3 83022 3.6135E-5 41511 0 2.56648E-4
5-128864284-T-A p.Phe408Leu missense ADAMTS19 14 83000 1.68675E-4 41500 0 4.46286E-4
5-128864285-G-C p.Gly409Arg missense ADAMTS19 1 82986 1.20502E-5 41493 0 8.27568E-6
5-128864301-T-C p.Ile414Thr missense ADAMTS19 2 82926 2.41179E-5 41463 0 NA
5-128864324-T-TG p.Glu424fs frameshift ADAMTS19 1 82732 1.20872E-5 41366 0 NA
5-128864324-T-C p.Trp422Arg missense ADAMTS19 5 82732 6.04361E-5 41366 0 1.24952E-4
5-128864328-G-T p.Gly423Val missense ADAMTS19 3 82672 3.6288E-5 41336 0 2.47987E-5
5-128864337-T-C p.Met426Thr missense ADAMTS19 4 82612 4.84191E-5 41306 0 1.27478E-4
5-128864338-G-GCAGGTTT p.Thr427fs frameshift ADAMTS19 1 82604 1.2106E-5 41302 0 NA
5-128864340-C-A p.Thr427Asn missense ADAMTS19 1 82570 1.21109E-5 41285 0 NA
5-128864351-G-A p.Ala431Thr missense ADAMTS19 1 82474 1.2125E-5 41237 0 8.26884E-6
5-128864365-A-T p.Ile435Ile synonymous ADAMTS19 3 82324 3.64414E-5 41162 0 0.00125
5-128864375-A-G c.1310+5A>G splice_region ADAMTS19 1335 82000 0.0162805 41000 52 0.0345455
5-128887546-TTTC-T c.1311-10_1311-8delTTC splice_region ADAMTS19 1 80136 1.24788E-5 40068 0 NA
5-128887554-T-C c.1311-3T>C splice_region ADAMTS19 1 80366 1.24431E-5 40183 0 1.8425E-5
5-128887580-A-G p.Asp445Gly missense ADAMTS19 1 80720 1.23885E-5 40360 0 NA
5-128887591-G-A p.Asp449Asn missense ADAMTS19 26 80724 3.22085E-4 40362 1 0.00125
5-128887604-AGT-A c.1354+5_1354+6delGT splice_region ADAMTS19 1 80318 1.24505E-5 40159 0 3.32528E-5
5-128932244-T-G c.1355-8T>G splice_region ADAMTS19 1 80366 1.24431E-5 40183 0 4.22647E-5
5-128932258-C-T p.Ala454Val missense ADAMTS19 1 81502 1.22696E-5 40751 0 NA
5-128932279-G-A p.Ser461Asn missense ADAMTS19 2 82014 2.43861E-5 41007 0 NA
5-128932283-A-G p.Glu462Glu synonymous ADAMTS19 1 82092 1.21815E-5 41046 0 NA
5-128932286-G-A p.Lys463Lys synonymous ADAMTS19 1 82006 1.21942E-5 41003 0 9.55536E-5
5-128932286-G-C p.Lys463Asn missense ADAMTS19 2 82006 2.43885E-5 41003 0 3.18512E-5
5-128932323-C-G p.Leu476Val missense ADAMTS19 1 82006 1.21942E-5 41003 0 4.07933E-6
5-128932325-T-C p.Leu476Leu synonymous ADAMTS19 17 81978 2.07373E-4 40989 0 6.68918E-4
5-128932334-A-C p.Thr479Thr synonymous ADAMTS19 1 81904 1.22094E-5 40952 0 2.48616E-5
5-128932339-C-G p.Ala481Gly missense ADAMTS19 1 81808 1.22237E-5 40904 0 NA
5-128956318-A-G p.Ile490Val missense ADAMTS19 2 82164 2.43416E-5 41082 0 6.37227E-5
5-128956323-C-G p.Asn491Lys missense ADAMTS19 3 82366 3.64228E-5 41183 0 3.18695E-5
5-128956335-C-G p.Asp495Glu missense ADAMTS19 1 82576 1.21101E-5 41288 0 NA
5-128956335-C-T p.Asp495Asp synonymous ADAMTS19 1 82576 1.21101E-5 41288 0 NA
5-128956342-T-C p.Ser498Pro missense ADAMTS19 1 82730 1.20875E-5 41365 0 3.18573E-5
5-128956343-C-T p.Ser498Leu missense ADAMTS19 15 82738 1.81295E-4 41369 0 9.55962E-4
5-128956344-G-A p.Ser498Ser synonymous ADAMTS19 1 82748 1.20849E-5 41374 0 9.55657E-5
5-128956355-G-C p.Gly502Ala missense ADAMTS19 7 82922 8.44167E-5 41461 0 NA
5-128956361-A-G p.His504Arg missense ADAMTS19 1 82996 1.20488E-5 41498 0 NA
5-128956396-C-T p.Leu516Phe missense ADAMTS19 1 83122 1.20305E-5 41561 0 NA
5-128956399-G-A p.Gly517Ser missense ADAMTS19 1 83122 1.20305E-5 41561 0 NA
5-128956404-C-T p.Asp518Asp synonymous ADAMTS19 12 83108 1.4439E-4 41554 0 6.92076E-4
5-128956405-G-A p.Val519Ile missense ADAMTS19 2 83118 2.40622E-5 41559 0 NA
5-128956417-C-T p.Arg523* stop_gained ADAMTS19 1 83112 1.2032E-5 41556 0 8.23954E-6
5-128956418-G-T p.Arg523Leu missense ADAMTS19 2 83098 2.4068E-5 41549 0 1.07689E-4
5-128956418-G-A p.Arg523Gln missense ADAMTS19 2 83100 2.40674E-5 41550 0 1.91266E-4
5-128956446-T-C p.Phe532Phe synonymous ADAMTS19 9 83014 1.08415E-4 41507 0 9.18325E-5
5-128956458-AG-A c.1601+8delG splice_region ADAMTS19 1 82910 1.20613E-5 41455 0 NA
5-128957889-A-G c.1602-2A>G splice_acceptor ADAMTS19 1 83180 1.20221E-5 41590 0 3.97934E-6
5-128957892-T-C p.Ser535Pro missense+splice_region ADAMTS19 1 83192 1.20204E-5 41596 0 3.97918E-6
5-128957894-A-G p.Ser535Ser synonymous ADAMTS19 1 83204 1.20187E-5 41602 0 NA
5-128957899-C-T p.Ala537Val missense ADAMTS19 5 83216 6.00846E-5 41608 0 4.12099E-5
5-128957913-C-T p.Leu542Leu synonymous ADAMTS19 11 83264 1.3211E-4 41632 0 1.91058E-4
5-128957926-C-T p.Pro546Leu missense ADAMTS19 194 83286 0.00232932 41643 2 0.00439602
5-128957927-G-T p.Pro546Pro synonymous ADAMTS19 10 83286 1.20068E-4 41643 0 3.18431E-5
5-128957934-G-A p.Val549Ile missense ADAMTS19 20 83308 2.40073E-4 41654 0 2.2293E-4
5-128957938-A-G p.Asn550Ser missense ADAMTS19 84 83298 0.00100843 41649 1 6.60245E-4
5-128957942-T-C p.Ser551Ser synonymous ADAMTS19 5 83308 6.00182E-5 41654 0 2.86606E-4
5-128957945-G-C p.Val552Val synonymous ADAMTS19 2 83312 2.40061E-5 41656 0 NA
5-128957946-A-G p.Met553Val missense ADAMTS19 1 83308 1.20036E-5 41654 0 NA
5-128957948-G-T p.Met553Ile missense ADAMTS19 1 83312 1.20031E-5 41656 0 8.23954E-6
5-128957957-C-A p.Ser556Ser synonymous ADAMTS19 1 83314 1.20028E-5 41657 0 8.23954E-6
5-128957963-G-T p.Leu558Leu synonymous ADAMTS19 2 83312 2.40061E-5 41656 0 8.24144E-6
5-128957964-C-G p.Pro559Ala missense ADAMTS19 1 83312 1.20031E-5 41656 0 7.95469E-6
5-128957972-G-T p.Met561Ile missense ADAMTS19 1 83316 1.20025E-5 41658 0 8.24117E-6
5-128957974-C-T p.Thr562Ile missense ADAMTS19 3 83318 3.60066E-5 41659 0 3.29658E-5
5-128957979-A-G p.Thr564Ala missense ADAMTS19 1 83316 1.20025E-5 41658 0 NA
5-128957999-G-T p.Gln570His missense ADAMTS19 1 83326 1.20011E-5 41663 0 NA
5-128958006-T-A p.Phe573Ile missense ADAMTS19 4 83320 4.80077E-5 41660 0 8.24593E-6
5-128958007-T-G p.Phe573Cys missense ADAMTS19 1 83320 1.20019E-5 41660 0 8.2462E-6
5-128958008-T-G p.Phe573Leu missense ADAMTS19 1 83320 1.20019E-5 41660 0 3.18471E-5
5-128958028-G-C p.Cys580Ser missense ADAMTS19 2 83296 2.40108E-5 41648 0 NA
5-128958034-A-T p.Glu582Val missense ADAMTS19 1 83288 1.20065E-5 41644 0 3.97975E-6
5-128977552-C-A p.His585Asn missense+splice_region ADAMTS19 1 81652 1.22471E-5 40826 0 2.0896E-5
5-128977556-T-C p.Val586Ala missense ADAMTS19 1 81772 1.22291E-5 40886 0 8.31248E-6
5-128977582-G-A p.Val595Ile missense ADAMTS19 8 82776 9.66464E-5 41388 0 8.24511E-6
5-128977608-C-A p.Thr603Thr synonymous ADAMTS19 1 82932 1.20581E-5 41466 0 3.2306E-5
5-128977612-C-T p.Leu605Leu synonymous ADAMTS19 1 82926 1.20589E-5 41463 0 NA
5-128977615-G-T p.Asp606Tyr missense ADAMTS19 1 82898 1.2063E-5 41449 0 8.24294E-6
5-128977626-G-A p.Met609Ile missense ADAMTS19 2 82758 2.41668E-5 41379 0 4.01097E-6
5-128983458-T-C p.Trp619Arg missense+splice_region ADAMTS19 1 83360 1.19962E-5 41680 0 1.19474E-5
5-128983459-G-T p.Trp619Leu missense+splice_region ADAMTS19 1 83366 1.19953E-5 41683 0 NA
5-128983469-T-C p.Ala622Ala synonymous ADAMTS19 6 83386 7.19545E-5 41693 0 2.47227E-5
5-128983484-C-A p.Ser627Arg missense ADAMTS19 9 83388 1.07929E-4 41694 0 0.003125
5-128983487-G-A p.Arg628Arg synonymous ADAMTS19 5 83394 5.99564E-5 41697 0 2.38622E-5
5-128983502-A-T p.Glu633Asp missense ADAMTS19 1 83390 1.19918E-5 41695 0 NA
5-128983507-T-G p.Leu635Arg missense ADAMTS19 1 83386 1.19924E-5 41693 0 NA
5-128983511-C-T p.Ala636Ala synonymous ADAMTS19 2 83380 2.39866E-5 41690 0 3.18573E-5
5-128983512-G-A p.Gly637Arg missense ADAMTS19 1 83384 1.19927E-5 41692 0 5.03525E-4
5-128983559-G-C p.Gly652Gly synonymous ADAMTS19 2 83360 2.39923E-5 41680 0 NA
5-128983566-A-T p.Ser655Cys missense ADAMTS19 1 83338 1.19993E-5 41669 0 NA
5-128983567-G-A p.Ser655Asn missense ADAMTS19 1 83338 1.19993E-5 41669 0 8.23832E-6
5-128983570-G-C p.Arg656Pro missense ADAMTS19 3 83330 3.60014E-5 41665 0 NA
5-128983570-G-A p.Arg656Gln missense ADAMTS19 2 83330 2.4001E-5 41665 0 1.64788E-5
5-128983575-C-T p.Arg658Cys missense ADAMTS19 7 83306 8.40276E-5 41653 0 1.48326E-4
5-128983576-G-A p.Arg658His missense ADAMTS19 2 83302 2.4009E-5 41651 0 3.18512E-5
5-128983578-A-G p.Lys659Glu missense ADAMTS19 1 83302 1.20045E-5 41651 0 8.24144E-6
5-128983580-A-G p.Lys659Lys synonymous ADAMTS19 2 83308 2.40073E-5 41654 0 1.6484E-5
5-128983586-T-C p.Pro661Pro splice_region+synonymous ADAMTS19 2 83236 2.40281E-5 41618 0 7.17967E-5
5-128983596-C-G c.1985+8C>G splice_region ADAMTS19 1 83124 1.20302E-5 41562 0 NA
5-128984483-T-C c.1986-8T>C splice_region ADAMTS19 1 82978 1.20514E-5 41489 0 NA
5-128984504-G-A p.Ala667Thr missense ADAMTS19 1 83150 1.20265E-5 41575 0 NA
5-128984509-G-A p.Arg668Arg synonymous ADAMTS19 2 83208 2.40361E-5 41604 0 NA
5-128984517-A-G p.Asn671Ser missense ADAMTS19 1 83250 1.2012E-5 41625 0 NA
5-128984525-A-G p.Arg674Gly missense ADAMTS19 2 83284 2.40142E-5 41642 0 1.15355E-4
5-128984525-AG-TT p.Arg674Leu missense ADAMTS19 1 83284 1.20071E-5 41642 0 NA
5-128984526-G-GA p.Gln676fs frameshift ADAMTS19 1 83282 1.20074E-5 41641 0 NA
5-128984526-G-A p.Arg674Lys missense ADAMTS19 2 83282 2.40148E-5 41641 0 1.19336E-5
5-128984537-A-G p.Arg678Gly missense ADAMTS19 1 83326 1.20011E-5 41663 0 NA
5-128984553-C-T p.Pro683Leu missense ADAMTS19 1 83316 1.20025E-5 41658 0 NA
5-128984567-G-C p.Gly688Arg missense ADAMTS19 1 83302 1.20045E-5 41651 0 NA
5-128984567-G-A p.Gly688Ser missense ADAMTS19 3 83302 3.60135E-5 41651 0 5.03525E-4
5-128984572-G-A p.Leu689Leu synonymous ADAMTS19 1 83306 1.20039E-5 41653 0 3.18776E-5
5-128984585-G-A p.Asp694Asn missense ADAMTS19 2 83326 2.40021E-5 41663 0 3.18654E-5
5-128984605-T-C p.Tyr700Tyr synonymous ADAMTS19 164 83316 0.00196841 41658 1 0.00458803
5-128984622-C-A p.Ser706Tyr missense ADAMTS19 1 83232 1.20146E-5 41616 0 NA
5-128984624-C-T p.Pro707Ser missense ADAMTS19 1 83230 1.20149E-5 41615 0 NA
5-128984628-A-G p.Lys708Arg missense ADAMTS19 1 83222 1.20161E-5 41611 0 NA
5-128984629-G-A p.Lys708Lys synonymous ADAMTS19 5 83220 6.00817E-5 41610 0 1.91217E-4
5-128984631-A-G p.His709Arg missense ADAMTS19 2 83168 2.40477E-5 41584 0 8.23737E-6
5-128984645-C-A p.Gln714Lys missense ADAMTS19 1 82952 1.20552E-5 41476 0 3.98403E-6
5-128984651-G-A p.Val716Ile missense ADAMTS19 1 83004 1.20476E-5 41502 0 1.19656E-5
5-128984657-G-C p.Asp718His missense ADAMTS19 1 82976 1.20517E-5 41488 0 NA
5-128989991-G-T c.2159-8G>T splice_region ADAMTS19 1 82140 1.21743E-5 41070 0 1.24402E-5
5-128990016-T-A p.Phe726Ile missense ADAMTS19 3 82656 3.6295E-5 41328 0 3.18492E-5
5-128990020-G-T p.Cys727Phe missense ADAMTS19 1 82674 1.20957E-5 41337 0 NA
5-128990028-G-A p.Val730Ile missense ADAMTS19 1 82748 1.20849E-5 41374 0 NA
5-128990063-AGTGATGGATGGAACTTCTT-A p.Met743fs frameshift ADAMTS19 1 82926 1.20589E-5 41463 0 3.98451E-6
5-128990101-A-G p.Asp754Gly missense ADAMTS19 5 82456 6.06384E-5 41228 1 6.25E-4
5-128990125-A-G p.Gln762Arg missense+splice_region ADAMTS19 7 81892 8.54784E-5 40946 0 3.31323E-5
5-128990127-G-T c.2286+1G>T splice_donor ADAMTS19 1 81780 1.22279E-5 40890 0 NA
5-128990131-G-A c.2286+5G>A splice_region ADAMTS19 1 81574 1.22588E-5 40787 0 6.60982E-5
5-128990133-C-A c.2286+7C>A splice_region ADAMTS19 1 81392 1.22862E-5 40696 0 4.41844E-6
5-128994318-C-T p.Gly765Gly synonymous ADAMTS19 1 83152 1.20262E-5 41576 0 4.0234E-6
5-128994331-T-C p.Leu770Leu synonymous ADAMTS19 1 83184 1.20215E-5 41592 0 3.98781E-6
5-128994341-T-C p.Leu773Pro missense ADAMTS19 6 83182 7.2131E-5 41591 0 NA
5-128994342-T-G p.Leu773Leu synonymous ADAMTS19 1 83180 1.20221E-5 41590 0 NA
5-128994347-G-C p.Arg775Thr missense ADAMTS19 1 83184 1.20215E-5 41592 0 NA
5-128994381-A-G p.Gly786Gly synonymous ADAMTS19 1 83090 1.20351E-5 41545 0 8.24035E-6
5-128994387-A-T p.Ser788Ser synonymous ADAMTS19 1 83048 1.20412E-5 41524 0 NA
5-128994390-C-T p.Cys789Cys synonymous ADAMTS19 1 83036 1.2043E-5 41518 0 NA
5-128994424-G-C p.Gly801Arg missense ADAMTS19 1 82720 1.2089E-5 41360 0 NA
5-128994427-G-A p.Ala802Thr missense ADAMTS19 1 82502 1.21209E-5 41251 0 NA
5-128994429-A-G p.Ala802Ala splice_region+synonymous ADAMTS19 3 82490 3.6368E-5 41245 0 4.18452E-6
5-129001189-C-T c.2408-3C>T splice_region ADAMTS19 9 81566 1.1034E-4 40783 0 1.0357E-4
5-129001226-A-G p.Ala814Ala synonymous ADAMTS19 1 82136 1.21749E-5 41068 0 3.18593E-5
5-129001232-A-C p.Arg816Ser missense ADAMTS19 1 82100 1.21803E-5 41050 0 9.28298E-6
5-129001247-G-A p.Glu821Glu synonymous ADAMTS19 159 82086 0.00193699 41043 1 0.00363289
5-129001256-G-A p.Pro824Pro synonymous ADAMTS19 3 81974 3.6597E-5 40987 0 3.18898E-5
5-129001260-C-A p.His826Asn missense ADAMTS19 1 81948 1.22029E-5 40974 0 9.67492E-6
5-129001272-G-C p.Ala830Pro missense+splice_region ADAMTS19 1 81718 1.22372E-5 40859 0 NA
5-129001277-C-T c.2488+5C>T splice_region ADAMTS19 1 81610 1.22534E-5 40805 0 7.11686E-5
5-129001279-T-G c.2488+7T>G splice_region ADAMTS19 1 81570 1.22594E-5 40785 0 NA
5-129015449-C-T c.2489-8C>T splice_region ADAMTS19 1 82760 1.20831E-5 41380 0 NA
5-129015452-T-C c.2489-5T>C splice_region ADAMTS19 35344 79612 0.443953 39806 8165 0.46539
5-129015473-C-T p.Gly835Gly synonymous ADAMTS19 3 83058 3.61193E-5 41529 0 NA
5-129015488-T-C p.Asn840Asn synonymous ADAMTS19 3 83126 3.60898E-5 41563 0 3.30049E-5
5-129015502-T-C p.Ile845Thr missense ADAMTS19 1 83144 1.20273E-5 41572 0 8.24538E-6
5-129015508-A-G p.His847Arg missense ADAMTS19 2 83160 2.405E-5 41580 0 5.03525E-4
5-129015516-G-A p.Ala850Thr missense ADAMTS19 1 83152 1.20262E-5 41576 0 0.001875
5-129015517-C-A p.Ala850Asp missense ADAMTS19 4 83142 4.81105E-5 41571 0 4.94503E-5
5-129015523-A-G p.Asn852Ser missense ADAMTS19 1 83162 1.20247E-5 41581 0 6.25E-4
5-129015527-G-A p.Leu853Leu synonymous ADAMTS19 1 83158 1.20253E-5 41579 0 NA
5-129015539-C-T p.Thr857Thr synonymous ADAMTS19 2 83128 2.40593E-5 41564 0 1.59144E-5
5-129015540-G-A p.Val858Ile missense ADAMTS19 17 83128 2.04504E-4 41564 0 1.59226E-4
5-129015555-C-T p.Arg863* stop_gained ADAMTS19 2 83102 2.40668E-5 41551 0 3.97893E-6
5-129015556-G-A p.Arg863Gln missense ADAMTS19 6 83092 7.22091E-5 41546 0 6.36943E-5
5-129015561-C-T p.Leu865Phe missense ADAMTS19 1 83120 1.20308E-5 41560 0 8.24158E-6
5-129015567-G-A p.Glu867Lys missense ADAMTS19 1 83118 1.20311E-5 41559 0 NA
5-129015568-A-C p.Glu867Ala missense ADAMTS19 1 83120 1.20308E-5 41560 0 NA
5-129015573-A-T p.Ile869Phe missense ADAMTS19 1 83104 1.20331E-5 41552 0 NA
5-129015580-C-A p.Ala871Asp missense ADAMTS19 1 83066 1.20386E-5 41533 0 NA
5-129015593-T-C p.Thr875Thr synonymous ADAMTS19 3 83060 3.61185E-5 41530 0 NA
5-129015607-A-G p.His880Arg missense ADAMTS19 1 82966 1.20531E-5 41483 0 3.1841E-5
5-129019810-T-C c.2647-3T>C splice_region ADAMTS19 1 83162 1.20247E-5 41581 0 NA
5-129019839-T-C p.Tyr891Tyr synonymous ADAMTS19 1 83186 1.20213E-5 41593 0 7.56195E-5
5-129019848-C-T p.His894His synonymous ADAMTS19 1 83204 1.20187E-5 41602 0 NA
5-129019854-A-G p.Glu896Glu synonymous ADAMTS19 2 83194 2.40402E-5 41597 0 NA
5-129019860-T-C p.Thr898Thr synonymous ADAMTS19 2 83196 2.40396E-5 41598 0 3.97823E-6
5-129019866-A-C p.Pro900Pro synonymous ADAMTS19 5 83200 6.00962E-5 41600 0 9.55414E-5
5-129019866-A-T p.Pro900Pro synonymous ADAMTS19 1 83200 1.20192E-5 41600 0 NA
5-129019872-C-A p.Asp902Glu missense ADAMTS19 1 83194 1.20201E-5 41597 0 3.1839E-5
5-129019873-C-T p.Pro903Ser missense ADAMTS19 2 83192 2.40408E-5 41596 0 8.23818E-6
5-129019878-T-A p.Leu904Leu synonymous ADAMTS19 1 83196 1.20198E-5 41598 0 6.3678E-5
5-129019893-C-T p.Ser909Ser synonymous ADAMTS19 2 83198 2.4039E-5 41599 0 3.97804E-6
5-129019896-TA-T p.Ala912fs frameshift ADAMTS19 1 83188 1.2021E-5 41594 0 NA
5-129019903-C-T p.Pro913Ser missense ADAMTS19 2 83192 2.40408E-5 41596 0 3.18492E-5
5-129019910-C-A p.Pro915His missense ADAMTS19 3 83178 3.60672E-5 41589 0 2.50629E-4
5-129019926-A-G p.Thr920Thr synonymous ADAMTS19 2 83140 2.40558E-5 41570 0 NA
5-129019928-A-G p.His921Arg missense ADAMTS19 1 83138 1.20282E-5 41569 0 NA
5-129019933-A-G p.Ser923Gly missense ADAMTS19 1 83128 1.20296E-5 41564 0 NA
5-129019948-G-A p.Asp928Asn missense ADAMTS19 2 83060 2.4079E-5 41530 0 8.24906E-6
5-129019952-C-T p.Ala929Val missense ADAMTS19 1 83026 1.20444E-5 41513 0 NA
5-129019967-G-A c.2800+1G>A splice_donor ADAMTS19 3 82916 3.61812E-5 41458 0 NA
5-129030412-G-A c.2801-1G>A splice_acceptor ADAMTS19 2 81382 2.45755E-5 40691 0 NA
5-129030420-G-A p.Arg936Arg synonymous ADAMTS19 1 81836 1.22196E-5 40918 0 NA
5-129030422-A-G p.Lys937Arg missense ADAMTS19 1 81994 1.2196E-5 40997 0 NA
5-129030430-G-A p.Val940Met missense ADAMTS19 1 82510 1.21197E-5 41255 0 1.66323E-5
5-129030448-A-G p.Met946Val missense ADAMTS19 1 82758 1.20834E-5 41379 0 1.2194E-5
5-129030466-A-T p.Ile952Phe missense ADAMTS19 4 82906 4.82474E-5 41453 0 0.00125
5-129030485-G-A p.Cys958Tyr missense ADAMTS19 1 82904 1.20621E-5 41452 0 NA
5-129030491-A-G p.Tyr960Cys missense ADAMTS19 1 82926 1.20589E-5 41463 0 NA
5-129030496-A-G p.Thr962Ala missense ADAMTS19 1 82926 1.20589E-5 41463 0 1.21744E-5
5-129030498-C-T p.Thr962Thr synonymous ADAMTS19 1 82906 1.20619E-5 41453 0 2.4737E-5
5-129030505-G-T p.Glu965* stop_gained ADAMTS19 2 82872 2.41336E-5 41436 0 NA
5-129030518-G-A p.Arg969Gln missense ADAMTS19 2 82744 2.41709E-5 41372 0 2.51031E-5
5-129030525-C-T p.Cys971Cys synonymous ADAMTS19 2 82674 2.41914E-5 41337 0 NA
5-129030526-A-C p.Asn972His missense ADAMTS19 3 82678 3.62853E-5 41339 0 6.37267E-5
5-129030542-A-G p.Gln977Arg missense ADAMTS19 1 82544 1.21148E-5 41272 0 NA
5-129030549-G-GT c.2936+1_2936+2insT splice_donor ADAMTS19 1 82428 1.21318E-5 41214 0 NA
5-129037073-A-C c.2937-8A>C splice_region ADAMTS19 4 83346 4.79927E-5 41673 0 2.47664E-5
5-129037075-T-G c.2937-6T>G splice_region ADAMTS19 1 83348 1.19979E-5 41674 0 NA
5-129037081-G-T p.Arg979Ser missense+splice_region ADAMTS19 1 83358 1.19964E-5 41679 0 NA
5-129037085-A-G p.Met981Val missense ADAMTS19 3 83362 3.59876E-5 41681 0 NA
5-129037096-ATGGACCCCT-A p.Trp985_Pro987del disruptive_inframe_deletion ADAMTS19 1 83372 1.19944E-5 41686 0 NA
5-129037112-C-T p.Arg990* stop_gained ADAMTS19 1 83376 1.19939E-5 41688 0 NA
5-129037113-G-T p.Arg990Leu missense ADAMTS19 7 83380 8.3953E-5 41690 0 2.63617E-4
5-129037124-A-G p.Lys994Glu missense ADAMTS19 2 83384 2.39854E-5 41692 0 NA
5-129037138-C-T p.Ser998Ser synonymous ADAMTS19 6 83382 7.1958E-5 41691 0 4.11848E-5
5-129037148-G-T p.Ala1002Ser missense ADAMTS19 2 83384 2.39854E-5 41692 0 4.11841E-5
5-129037153-T-G p.Cys1003Trp missense ADAMTS19 1 83384 1.19927E-5 41692 0 3.9764E-6
5-129037156-C-T p.Thr1004Thr synonymous ADAMTS19 2 83384 2.39854E-5 41692 0 6.58957E-5
5-129037163-C-T p.Leu1007Leu synonymous ADAMTS19 3 83378 3.59807E-5 41689 0 NA
5-129037177-A-G p.Thr1011Thr synonymous ADAMTS19 1 83368 1.1995E-5 41684 0 NA
5-129037190-C-T p.Arg1016* stop_gained ADAMTS19 1 83334 1.19999E-5 41667 0 NA
5-129037191-G-A p.Arg1016Gln missense ADAMTS19 2 83334 2.39998E-5 41667 0 4.94315E-5
5-129037206-T-C p.Ile1021Thr missense ADAMTS19 1 83250 1.2012E-5 41625 0 6.25E-4
5-129037210-G-C p.Gly1022Gly synonymous ADAMTS19 7 83180 8.41548E-5 41590 0 4.37797E-5
5-129037220-G-A p.Ala1026Thr missense ADAMTS19 2 83274 2.40171E-5 41637 0 4.12031E-5
5-129037232-C-T p.Arg1030Cys missense ADAMTS19 2 83236 2.40281E-5 41618 0 8.24307E-6
5-129037233-G-A p.Arg1030His missense ADAMTS19 1 83222 1.20161E-5 41611 0 6.37146E-5
5-129037257-C-T p.Thr1038Ile missense ADAMTS19 1 82996 1.20488E-5 41498 0 NA
5-129037258-C-T p.Thr1038Thr synonymous ADAMTS19 7 82976 8.43617E-5 41488 0 5.03525E-4
5-129037259-G-A p.Val1039Met missense ADAMTS19 6 82968 7.2317E-5 41484 0 4.95507E-5
5-129037269-C-T p.Ala1042Val missense ADAMTS19 1 82742 1.20858E-5 41371 0 2.48505E-5
5-129037270-G-A p.Ala1042Ala synonymous ADAMTS19 2 82728 2.41756E-5 41364 0 6.37267E-5
5-129037272-G-A p.Gly1043Glu missense ADAMTS19 1 82720 1.2089E-5 41360 0 NA
5-129037286-G-A c.3141+1G>A splice_donor ADAMTS19 2 82396 2.4273E-5 41198 0 NA
5-129037289-C-A c.3141+4C>A splice_region ADAMTS19 3 82268 3.64662E-5 41134 0 3.18492E-5
5-129039954-G-A p.Gly1055Asp missense ADAMTS19 1 83234 1.20143E-5 41617 0 NA
5-129039960-G-A p.Arg1057His missense ADAMTS19 4 83242 4.80527E-5 41621 0 5.04032E-4
5-129039962-C-A p.His1058Asn missense ADAMTS19 1 83252 1.20117E-5 41626 0 NA
5-129039965-C-T p.Arg1059Trp missense ADAMTS19 1 83252 1.20117E-5 41626 0 NA
5-129039966-G-A p.Arg1059Gln missense ADAMTS19 1 83256 1.20111E-5 41628 0 7.96419E-6
5-129039967-G-T p.Arg1059Arg synonymous ADAMTS19 5 83260 6.00528E-5 41630 0 2.47313E-5
5-129039970-C-T p.Thr1060Thr synonymous ADAMTS19 3 83264 3.603E-5 41632 0 8.2428E-6
5-129039971-G-A p.Val1061Ile missense ADAMTS19 7 83276 8.40578E-5 41638 0 6.25E-4
5-129039972-T-G p.Val1061Gly missense ADAMTS19 1 83272 1.20088E-5 41636 0 NA
5-129039975-G-A p.Arg1062Lys missense ADAMTS19 2 83278 2.40159E-5 41639 0 3.97934E-6
5-129039987-C-G p.Pro1066Arg missense ADAMTS19 4 83284 4.80284E-5 41642 0 NA
5-129039991-A-G p.Arg1067Arg synonymous ADAMTS19 7 83292 8.40417E-5 41646 0 6.76455E-5
5-129039994-G-A p.Lys1068Lys synonymous ADAMTS19 6 83300 7.20288E-5 41650 0 6.25E-4
5-129040000-T-C p.Cys1070Cys synonymous ADAMTS19 102 83290 0.00122464 41645 0 0.00254777
5-129040004-C-T p.Leu1072Phe missense ADAMTS19 1 83298 1.20051E-5 41649 0 3.9782E-6
5-129040014-G-A p.Arg1075Lys missense ADAMTS19 1 83296 1.20054E-5 41648 0 NA
5-129040031-G-T p.Asp1081Tyr missense ADAMTS19 2 83318 2.40044E-5 41659 0 3.29576E-5
5-129040039-G-A p.Glu1083Glu synonymous ADAMTS19 2 83318 2.40044E-5 41659 0 NA
5-129040040-G-T p.Asp1084Tyr missense ADAMTS19 1 83318 1.20022E-5 41659 0 NA
5-129040045-T-A p.Tyr1085* stop_gained ADAMTS19 1 83320 1.20019E-5 41660 0 NA
5-129040046-T-A p.Ser1086Thr missense ADAMTS19 3 83322 3.60049E-5 41661 0 1.56608E-4
5-129040049-A-G p.Lys1087Glu missense ADAMTS19 1 83316 1.20025E-5 41658 0 3.97959E-6
5-129040056-A-T p.Tyr1089Phe missense ADAMTS19 11735 83132 0.141161 41566 1005 0.135698
5-129040057-T-C p.Tyr1089Tyr synonymous ADAMTS19 3 83310 3.60101E-5 41655 0 9.55657E-5
5-129040060-G-T p.Val1090Val synonymous ADAMTS19 1 83304 1.20042E-5 41652 0 NA
5-129040065-G-A p.Arg1092Gln missense ADAMTS19 2 83304 2.40085E-5 41652 0 6.6131E-5
5-129040069-G-A p.Met1093Ile missense ADAMTS19 1 83306 1.20039E-5 41653 0 5.03525E-4
5-129070619-TC-T c.3295-5delC splice_region ADAMTS19 3 82590 3.6324E-5 41295 0 3.40617E-5
5-129070625-T-C p.Cys1099Arg missense+splice_region ADAMTS19 2 82600 2.42131E-5 41300 0 NA
5-129070656-C-A p.Ser1109Tyr missense ADAMTS19 2 83068 2.40767E-5 41534 0 NA
5-129070660-T-C p.Arg1110Arg synonymous ADAMTS19 109 83118 0.00131139 41559 0 7.01913E-4
5-129070662-T-C p.Val1111Ala missense ADAMTS19 1 83118 1.20311E-5 41559 0 NA
5-129070680-A-C p.Lys1117Thr missense ADAMTS19 1 83064 1.20389E-5 41532 0 NA
5-129070687-A-G p.Thr1119Thr synonymous ADAMTS19 1 82998 1.20485E-5 41499 0 NA
5-129070703-G-A p.Glu1125Lys missense ADAMTS19 2 82916 2.41208E-5 41458 0 8.26419E-6
5-129070708-T-G p.Cys1126Trp missense ADAMTS19 1 82874 1.20665E-5 41437 0 NA
5-129070720-A-C p.Glu1130Asp missense ADAMTS19 1 82854 1.20694E-5 41427 0 NA
5-129070724-C-T p.Pro1132Ser missense ADAMTS19 2 82812 2.41511E-5 41406 0 4.005E-6
5-129070739-C-T p.Pro1137Ser missense ADAMTS19 1 82752 1.20843E-5 41376 0 NA
5-129070747-T-A p.His1139Gln missense ADAMTS19 1 82694 1.20928E-5 41347 0 8.26733E-6
5-129070755-C-T p.Pro1142Leu missense ADAMTS19 1 82652 1.20989E-5 41326 0 NA
5-129070762-T-G p.Asn1144Lys missense ADAMTS19 2 82580 2.42189E-5 41290 0 4.19625E-6
5-129070792-A-G p.Ser1154Ser synonymous ADAMTS19 1 82030 1.21907E-5 41015 0 4.48889E-6
5-129070792-A-T p.Ser1154Ser synonymous ADAMTS19 1 82030 1.21907E-5 41015 0 NA
5-129070800-T-G p.Leu1157Arg missense+splice_region ADAMTS19 1 81792 1.22261E-5 40896 0 NA
5-129070808-C-T c.3472+6C>T splice_region ADAMTS19 3 81424 3.68442E-5 40712 0 1.10045E-4
5-129072762-G-T p.Ala1159Ser missense+splice_region ADAMTS19 2 81536 2.4529E-5 40768 0 2.49779E-5
5-129072769-C-G p.Thr1161Ser missense ADAMTS19 2 81630 2.45008E-5 40815 0 NA
5-129072795-C-G p.Pro1170Ala missense ADAMTS19 1 82096 1.21809E-5 41048 0 NA
5-129072808-G-A p.Arg1174Gln missense ADAMTS19 1 82214 1.21634E-5 41107 0 NA
5-129072816-C-T p.Arg1177Cys missense ADAMTS19 1 82200 1.21655E-5 41100 0 9.9167E-5
5-129072823-A-C p.Lys1179Thr missense ADAMTS19 1 82212 1.21637E-5 41106 0 NA
5-129072835-A-G p.Gln1183Arg missense ADAMTS19 1 82154 1.21723E-5 41077 0 8.27335E-6
5-129072841-T-C p.Met1185Thr missense ADAMTS19 1 82144 1.21737E-5 41072 0 NA
5-129072842-G-A p.Met1185Ile missense ADAMTS19 1 82144 1.21737E-5 41072 0 NA
5-129072845-G-A p.Arg1186Arg synonymous ADAMTS19 1 82122 1.2177E-5 41061 0 NA
5-129072856-G-A p.Arg1190His missense ADAMTS19 1 82042 1.21889E-5 41021 0 NA
5-129072868-C-T p.Thr1194Ile missense ADAMTS19 5 81998 6.09771E-5 40999 0 2.76683E-4
5-129072869-A-T p.Thr1194Thr synonymous ADAMTS19 1 81996 1.21957E-5 40998 0 NA
5-129072872-C-T p.Cys1195Cys synonymous ADAMTS19 1 81962 1.22008E-5 40981 0 8.04473E-6
5-129072881-C-G p.Phe1198Leu missense ADAMTS19 2 81884 2.44248E-5 40942 0 NA
5-129072896-G-A p.Leu1203Leu synonymous ADAMTS19 1 81686 1.2242E-5 40843 0 NA
5-129072901-A-G p.Gln1205Arg missense ADAMTS19 6 81632 7.35006E-5 40816 0 5.30521E-5