Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-64444562-G-GT c.*3100dupA splice_region ADAMTS6 2 40034 4.99575E-5 20017 0 NA
5-64444563-T-C c.*3100A>G splice_region ADAMTS6 13 40218 3.23238E-4 20109 0 9.55414E-5
5-64447674-G-A p.Gln1115* stop_gained ADAMTS6 1 83040 1.20424E-5 41520 0 3.97795E-6
5-64447678-G-A p.Thr1113Thr synonymous ADAMTS6 4 83098 4.81359E-5 41549 0 9.06409E-5
5-64447737-G-A p.Leu1094Leu synonymous ADAMTS6 1 83190 1.20207E-5 41595 0 NA
5-64447754-T-G p.Lys1088Thr missense ADAMTS6 2 83092 2.40697E-5 41546 0 1.6484E-5
5-64447771-C-A p.Glu1082Asp missense+splice_region ADAMTS6 1 82856 1.20691E-5 41428 0 3.98219E-6
5-64447777-C-T n.905-5G>A splice_region ADAMTS6 36759 80396 0.457224 40198 8620 0.480052
5-64447778-G-A n.905-6C>T splice_region ADAMTS6 16 82634 1.93625E-4 41317 0 9.70906E-4
5-64466436-A-C n.904+8T>G splice_region ADAMTS6 1 83254 1.20114E-5 41627 0 7.97537E-6
5-64466462-G-T p.Pro1076Thr missense ADAMTS6 1 83330 1.20005E-5 41665 0 1.19355E-5
5-64466469-G-A p.Asp1073Asp synonymous ADAMTS6 1 83344 1.19985E-5 41672 0 3.18654E-5
5-64466487-C-T p.Gln1067Gln synonymous ADAMTS6 2 83354 2.3994E-5 41677 0 1.16038E-4
5-64466495-T-C p.Met1065Val missense ADAMTS6 2 83358 2.39929E-5 41679 0 1.35211E-4
5-64466506-C-T p.Arg1061Gln missense ADAMTS6 5 83352 5.99866E-5 41676 0 1.48805E-4
5-64466529-A-G p.Ser1053Ser synonymous ADAMTS6 2 83352 2.39946E-5 41676 0 1.98832E-5
5-64466538-T-G p.Gly1050Gly synonymous ADAMTS6 1 83352 1.19973E-5 41676 0 NA
5-64466540-C-T p.Gly1050Arg missense ADAMTS6 2 83344 2.39969E-5 41672 0 3.18796E-5
5-64466540-C-G p.Gly1050Arg missense ADAMTS6 1 83344 1.19985E-5 41672 0 NA
5-64466541-G-A p.Thr1049Thr synonymous ADAMTS6 73 83350 8.75825E-4 41675 0 0.00332344
5-64466542-G-A p.Thr1049Ile missense ADAMTS6 2 83352 2.39946E-5 41676 0 NA
5-64466546-A-C p.Tyr1048Asp missense ADAMTS6 1 83348 1.19979E-5 41674 0 3.97649E-6
5-64466548-G-A p.Ser1047Phe missense ADAMTS6 27 83344 3.23959E-4 41672 0 1.6304E-4
5-64466556-C-G p.Gln1044His missense ADAMTS6 1 83344 1.19985E-5 41672 0 3.29794E-5
5-64466592-A-G p.Ala1032Ala synonymous ADAMTS6 1 83300 1.20048E-5 41650 0 NA
5-64466608-C-G n.748-8G>C splice_region ADAMTS6 1 83198 1.20195E-5 41599 0 NA
5-64468651-C-T n.747+8G>A splice_region ADAMTS6 113 83072 0.00136027 41536 2 6.69188E-4
5-64468663-C-A p.Gly1028Val missense ADAMTS6 1 83178 1.20224E-5 41589 0 NA
5-64468664-C-T p.Gly1028Ser missense ADAMTS6 2 83192 2.40408E-5 41596 0 8.32099E-6
5-64468668-G-A p.Asp1026Asp synonymous ADAMTS6 3 83208 3.60542E-5 41604 0 1.66014E-5
5-64468675-G-A p.Thr1024Ile missense ADAMTS6 4 83244 4.80515E-5 41622 0 3.06585E-4
5-64468684-C-T p.Arg1021His missense ADAMTS6 28 83270 3.36256E-4 41635 0 0.00176687
5-64468700-G-A p.Arg1016Cys missense ADAMTS6 1 83306 1.20039E-5 41653 0 1.98855E-5
5-64468708-C-T p.Ser1013Asn missense ADAMTS6 1 83326 1.20011E-5 41663 0 NA
5-64468710-G-A p.Cys1012Cys synonymous ADAMTS6 1 83330 1.20005E-5 41665 0 3.1839E-5
5-64468714-C-T p.Arg1011His missense ADAMTS6 8 83326 9.60085E-5 41663 0 1.27259E-4
5-64468715-G-A p.Arg1011Cys missense ADAMTS6 1 83328 1.20008E-5 41664 0 3.1841E-5
5-64468720-C-T p.Arg1009His missense ADAMTS6 5 83328 6.00038E-5 41664 0 3.18532E-5
5-64468721-GG-CT p.ValArg1008ValGly missense ADAMTS6 20 83326 2.40021E-4 41663 0 NA
5-64468721-G-A p.Arg1009Cys missense ADAMTS6 3 83326 3.60032E-5 41663 0 1.64772E-5
5-64468721-G-C p.Arg1009Gly missense ADAMTS6 2 83326 2.40021E-5 41663 0 9.55292E-5
5-64468722-G-T p.Val1008Val synonymous ADAMTS6 2 83328 2.40015E-5 41664 0 9.55292E-5
5-64468734-G-C p.Ser1004Arg missense ADAMTS6 1 83340 1.1999E-5 41670 0 NA
5-64468742-C-T p.Glu1002Lys missense ADAMTS6 2 83344 2.39969E-5 41672 0 3.9764E-6
5-64468753-G-A p.Ala998Val missense ADAMTS6 2 83358 2.39929E-5 41679 0 3.9764E-6
5-64468782-G-A p.Ser988Ser synonymous ADAMTS6 2 83328 2.40015E-5 41664 0 NA
5-64468785-C-G p.Lys987Asn missense ADAMTS6 2 83328 2.40015E-5 41664 0 3.1841E-5
5-64468788-G-A p.Cys986Cys synonymous ADAMTS6 1 83312 1.20031E-5 41656 0 3.18532E-5
5-64468799-T-G p.Ile983Leu missense ADAMTS6 1 83302 1.20045E-5 41651 0 NA
5-64468827-T-C p.Pro973Pro synonymous ADAMTS6 1 83042 1.20421E-5 41521 0 NA
5-64468830-A-T p.Thr972Thr synonymous ADAMTS6 1 82986 1.20502E-5 41493 0 NA
5-64468833-A-G p.Cys971Cys splice_region+synonymous ADAMTS6 1 82920 1.20598E-5 41460 0 4.03737E-6
5-64483873-T-C p.Pro960Pro synonymous ADAMTS6 1 83264 1.201E-5 41632 0 NA
5-64483873-T-A p.Pro960Pro synonymous ADAMTS6 1 83264 1.201E-5 41632 0 NA
5-64483901-T-C p.Lys951Arg missense ADAMTS6 1 83294 1.20057E-5 41647 0 NA
5-64483905-C-T p.Glu950Lys missense ADAMTS6 1 83290 1.20062E-5 41645 0 1.64783E-5
5-64483914-G-A p.Arg947Trp missense ADAMTS6 1 83276 1.20083E-5 41638 0 3.18837E-5
5-64483928-C-T p.Gly942Asp missense ADAMTS6 1 83282 1.20074E-5 41641 0 NA
5-64483929-C-T p.Gly942Ser missense ADAMTS6 1 83284 1.20071E-5 41642 0 NA
5-64483930-A-G p.Ser941Ser synonymous ADAMTS6 1 83282 1.20074E-5 41641 0 NA
5-64483937-T-C p.Asp939Gly missense ADAMTS6 1 83268 1.20094E-5 41634 0 NA
5-64483939-C-T p.Leu938Leu synonymous ADAMTS6 1 83262 1.20103E-5 41631 0 8.23791E-6
5-64483942-C-T p.Thr937Thr synonymous ADAMTS6 2 83252 2.40234E-5 41626 0 2.38662E-5
5-64483962-C-T p.Gly931Arg missense ADAMTS6 7 83194 8.41407E-5 41597 0 6.25E-4
5-64483964-A-G p.Ile930Thr missense ADAMTS6 2 83172 2.40466E-5 41586 0 3.97798E-6
5-64483974-T-C p.Ile927Val missense ADAMTS6 1 83146 1.2027E-5 41573 0 8.2394E-6
5-64483975-G-A p.Cys926Cys synonymous ADAMTS6 1 83132 1.20291E-5 41566 0 1.19353E-5
5-64483978-G-GTTAATATTA p.Leu925_Cys926insAsnIleAsn disruptive_inframe_insertion ADAMTS6 1 83114 1.20317E-5 41557 0 NA
5-64483986-C-A p.Ala923Ser missense ADAMTS6 2 83046 2.4083E-5 41523 0 3.97972E-6
5-64484026-C-G p.Leu909Phe missense ADAMTS6 19 82288 2.30896E-4 41144 1 2.39511E-4
5-64484032-A-G p.Asp907Asp synonymous ADAMTS6 1 82042 1.21889E-5 41021 0 NA
5-64484050-G-A n.366-3C>T splice_region ADAMTS6 63 81010 7.77682E-4 40505 0 0.00191058
5-64492864-T-C p.Glu897Gly missense ADAMTS6 2 83216 2.40338E-5 41608 0 NA
5-64492898-T-C p.Lys886Glu missense ADAMTS6 1 83260 1.20106E-5 41630 0 8.23832E-6
5-64492902-G-A p.Asp884Asp synonymous ADAMTS6 1 83258 1.20109E-5 41629 0 7.95463E-6
5-64492916-A-G p.Tyr880His missense ADAMTS6 1 83246 1.20126E-5 41623 0 NA
5-64492917-A-G p.Asn879Asn synonymous ADAMTS6 1 83252 1.20117E-5 41626 0 2.47166E-5
5-64492946-A-G p.Leu870Leu synonymous ADAMTS6 1 83210 1.20178E-5 41605 0 8.23981E-6
5-64492948-C-A p.Arg869Met missense ADAMTS6 1 83206 1.20184E-5 41603 0 2.47215E-5
5-64492956-G-T p.Val866Val synonymous ADAMTS6 1 83188 1.2021E-5 41594 0 NA
5-64492958-C-T p.Val866Ile missense ADAMTS6 1 83194 1.20201E-5 41597 0 NA
5-64492967-G-C p.Gln863Glu missense ADAMTS6 1 83172 1.20233E-5 41586 0 8.24715E-6
5-64492968-T-C p.Arg862Arg synonymous ADAMTS6 2 83172 2.40466E-5 41586 0 NA
5-64492986-A-G n.236-8T>C splice_region ADAMTS6 2 83118 2.40622E-5 41559 0 8.26938E-6
5-64510485-T-G p.Lys904Thr missense ADAMTS6 2 79996 2.50013E-5 39998 0 4.96426E-5
5-64510556-A-T p.Tyr880* stop_gained ADAMTS6 1 82840 1.20715E-5 41420 0 NA
5-64510565-A-T p.Ile877Ile synonymous ADAMTS6 1 82946 1.2056E-5 41473 0 NA
5-64510570-G-C p.His876Asp missense ADAMTS6 1 83028 1.20441E-5 41514 0 NA
5-64510576-T-C p.Thr874Ala missense ADAMTS6 3 83076 3.61115E-5 41538 0 1.73766E-4
5-64510593-TG-T p.Gln868fs frameshift ADAMTS6 3 83176 3.60681E-5 41588 0 5.77301E-5
5-64510606-T-C p.Arg864Gly missense ADAMTS6 1 83198 1.20195E-5 41599 0 NA
5-64510609-T-A p.Thr863Ser missense ADAMTS6 1 83192 1.20204E-5 41596 0 3.97716E-6
5-64510610-G-A p.Pro862Pro synonymous ADAMTS6 2 83200 2.40385E-5 41600 0 3.18613E-5
5-64510638-G-A p.Ser853Leu missense ADAMTS6 1 83226 1.20155E-5 41613 0 NA
5-64510652-A-C p.Pro848Pro synonymous ADAMTS6 1 83234 1.20143E-5 41617 0 NA
5-64510655-C-A p.Gln847His missense ADAMTS6 1 83220 1.20163E-5 41610 0 NA
5-64510682-A-G p.Asn838Asn synonymous ADAMTS6 1 83200 1.20192E-5 41600 0 1.98878E-5
5-64510684-T-C p.Asn838Asp missense ADAMTS6 4 83188 4.80839E-5 41594 0 5.03525E-4
5-64510716-T-C p.Asn827Ser missense ADAMTS6 3 83152 3.60785E-5 41576 0 3.97947E-6
5-64510726-A-G p.Tyr824His missense ADAMTS6 1 83098 1.2034E-5 41549 0 NA
5-64510727-C-A p.Arg823Ser missense ADAMTS6 1 83084 1.2036E-5 41542 0 NA
5-64510766-T-C c.*1709-7A>G splice_region ADAMTS6 1 82624 1.2103E-5 41312 0 NA
5-64511143-G-A c.*1708+8C>T splice_region ADAMTS6 1 82950 1.20555E-5 41475 0 8.29655E-6
5-64511194-G-A p.Ser798Phe missense ADAMTS6 40 83280 4.80307E-4 41640 0 6.00775E-4
5-64511199-T-C p.Pro796Pro synonymous ADAMTS6 1 83302 1.20045E-5 41651 0 1.59133E-5
5-64511219-T-C p.Lys790Glu missense ADAMTS6 36 83302 4.32162E-4 41651 0 5.41367E-4
5-64511238-A-G p.Ala783Ala synonymous ADAMTS6 1 83306 1.20039E-5 41653 0 NA
5-64511240-C-G p.Ala783Pro missense ADAMTS6 1 83304 1.20042E-5 41652 0 NA
5-64511246-C-T p.Asp781Asn missense ADAMTS6 2 83308 2.40073E-5 41654 0 1.19342E-5
5-64511248-A-G p.Phe780Ser missense ADAMTS6 1 83310 1.20034E-5 41655 0 NA
5-64511267-T-C p.Ile774Val missense ADAMTS6 2 83268 2.40188E-5 41634 0 1.19381E-5
5-64511285-T-C p.Ile768Val missense ADAMTS6 5 83216 6.00846E-5 41608 0 1.27405E-4
5-64511300-C-T p.Gly763Arg missense ADAMTS6 1 83086 1.20357E-5 41543 0 NA
5-64511318-G-A c.*1545-4C>T splice_region ADAMTS6 1 82926 1.20589E-5 41463 0 NA
5-64520152-T-C p.Tyr756Cys missense ADAMTS6 1 83142 1.20276E-5 41571 0 3.97845E-6
5-64520155-T-C p.Asn755Ser missense ADAMTS6 1 83164 1.20244E-5 41582 0 3.9781E-6
5-64520160-T-C p.Ser753Ser synonymous ADAMTS6 2 83178 2.40448E-5 41589 0 3.1835E-5
5-64520165-T-C p.Met752Val missense ADAMTS6 623 83172 0.0074905 41586 10 0.0131512
5-64520166-G-C p.Ala751Ala synonymous ADAMTS6 1 83196 1.20198E-5 41598 0 4.94242E-5
5-64520169-A-C p.Val750Val synonymous ADAMTS6 4 83202 4.80758E-5 41601 0 6.36902E-5
5-64520185-A-G p.Ile745Thr missense ADAMTS6 1 83222 1.20161E-5 41611 0 NA
5-64520193-A-G p.Ser742Ser synonymous ADAMTS6 1 83230 1.20149E-5 41615 0 7.95406E-6
5-64520222-T-C p.Met733Val missense ADAMTS6 1 83214 1.20172E-5 41607 0 3.97731E-6
5-64520231-G-C c.*1464-4C>G splice_region ADAMTS6 2 83222 2.40321E-5 41611 0 7.95551E-6
5-64520759-G-C p.Pro728Arg missense ADAMTS6 2 83178 2.40448E-5 41589 0 3.18715E-5
5-64520776-G-A p.Phe722Phe synonymous ADAMTS6 2 83222 2.40321E-5 41611 0 NA
5-64520780-C-T p.Gly721Glu missense ADAMTS6 1 83214 1.20172E-5 41607 0 NA
5-64520800-G-A p.Ser714Ser synonymous ADAMTS6 8 83222 9.61284E-5 41611 0 7.45268E-5
5-64520805-C-T p.Gly713Arg missense ADAMTS6 1 83226 1.20155E-5 41613 0 6.37471E-5
5-64520806-G-A p.Asp712Asp synonymous ADAMTS6 16 83218 1.92266E-4 41609 0 1.24104E-4
5-64520809-C-A p.Gly711Gly synonymous ADAMTS6 1 83230 1.20149E-5 41615 0 NA
5-64520823-G-C p.Arg707Gly missense ADAMTS6 1 83224 1.20158E-5 41612 0 3.30415E-5
5-64520837-C-T p.Arg702Lys missense ADAMTS6 1 83212 1.20175E-5 41606 0 4.12855E-5
5-64520840-G-A p.Ala701Val missense ADAMTS6 1 83204 1.20187E-5 41602 0 NA
5-64520848-T-A p.Gly698Gly synonymous ADAMTS6 1 83202 1.20189E-5 41601 0 NA
5-64520851-C-A p.Leu697Phe missense ADAMTS6 6 83186 7.21275E-5 41593 0 1.27445E-4
5-64520871-C-T p.Val691Ile missense ADAMTS6 2 83058 2.40796E-5 41529 0 6.37186E-5
5-64520872-G-A p.His690His splice_region+synonymous ADAMTS6 2 83052 2.40813E-5 41526 0 3.18613E-5
5-64521925-A-G p.Asn685Asn synonymous ADAMTS6 1 83166 1.20241E-5 41583 0 NA
5-64521948-C-G p.Asp678His missense ADAMTS6 6 83212 7.2105E-5 41606 0 7.18276E-5
5-64521958-C-T p.Gln674Gln synonymous ADAMTS6 5 83244 6.00644E-5 41622 0 3.18492E-5
5-64521961-G-T p.Thr673Thr synonymous ADAMTS6 1 83242 1.20132E-5 41621 0 8.25355E-6
5-64521970-G-A p.Ile670Ile synonymous ADAMTS6 168 83250 0.00201802 41625 2 0.0046196
5-64521976-C-T p.Ala668Ala synonymous ADAMTS6 3 83252 3.60352E-5 41626 0 4.1246E-5
5-64521977-G-T p.Ala668Glu missense ADAMTS6 14 83252 1.68164E-4 41626 0 2.54842E-4
5-64521980-G-A p.Pro667Leu missense ADAMTS6 1 83276 1.20083E-5 41638 0 NA
5-64521986-C-T p.Arg665His missense ADAMTS6 6 83264 7.206E-5 41632 0 3.98181E-6
5-64522007-C-T p.Gly658Asp missense ADAMTS6 1 83268 1.20094E-5 41634 0 NA
5-64522014-C-T p.Ala656Thr missense ADAMTS6 2 83270 2.40183E-5 41635 0 NA
5-64522030-A-G p.Cys650Cys synonymous ADAMTS6 1 83268 1.20094E-5 41634 0 3.18552E-5
5-64522035-G-A p.Pro649Ser missense ADAMTS6 2 83256 2.40223E-5 41628 0 5.03525E-4
5-64522039-T-A p.Val647Val synonymous ADAMTS6 1 83260 1.20106E-5 41630 0 NA
5-64522051-A-T c.*1206-5T>A splice_region ADAMTS6 2 83218 2.40333E-5 41609 0 7.97416E-6
5-64537938-A-G p.Tyr642Tyr synonymous ADAMTS6 2 81460 2.45519E-5 40730 0 NA
5-64537943-G-A p.Pro641Ser missense ADAMTS6 1 81652 1.22471E-5 40826 0 NA
5-64537950-G-C p.Asn638Lys missense ADAMTS6 3 82036 3.65693E-5 41018 0 1.57948E-4
5-64537959-C-T p.Lys635Lys synonymous ADAMTS6 1 82126 1.21764E-5 41063 0 NA
5-64537988-C-A p.Asp626Tyr missense ADAMTS6 1 82130 1.21758E-5 41065 0 NA
5-64538001-C-G p.Glu621Asp missense ADAMTS6 14 81940 1.70857E-4 40970 0 7.30419E-5
5-64538001-C-T p.Glu621Glu synonymous ADAMTS6 1 81940 1.22041E-5 40970 0 NA
5-64538003-C-G p.Glu621Gln missense ADAMTS6 1 81912 1.22082E-5 40956 0 NA
5-64538014-C-T p.Arg617Gln missense ADAMTS6 7 81724 8.56542E-5 40862 0 2.4497E-5
5-64556444-G-A p.Arg605Cys missense ADAMTS6 1 82270 1.21551E-5 41135 0 1.59378E-4
5-64556449-C-T p.Arg603Gln missense ADAMTS6 5 82264 6.07799E-5 41132 0 9.56206E-5
5-64556450-G-A p.Arg603Trp missense ADAMTS6 128 82286 0.00155555 41143 0 0.00449933
5-64556457-T-C p.Glu600Glu synonymous ADAMTS6 2 82280 2.43072E-5 41140 0 NA
5-64556473-T-C p.Lys595Arg missense ADAMTS6 3 82178 3.65061E-5 41089 0 5.1883E-5
5-64556482-C-G p.Gly592Ala missense ADAMTS6 5 82062 6.09295E-5 41031 0 1.27527E-4
5-64558623-C-T c.*1038+8G>A splice_region ADAMTS6 2 81162 2.46421E-5 40581 0 2.25839E-5
5-64558632-T-C c.*1037A>G splice_region ADAMTS6 2 81758 2.44624E-5 40879 0 1.59581E-5
5-64558640-T-C c.1766+4A>G splice_region ADAMTS6 1 81950 1.22026E-5 40975 0 NA
5-64558644-G-A p.Ala589Val missense+splice_region ADAMTS6 1 82036 1.21898E-5 41018 0 3.05689E-5
5-64558653-T-C p.Asp586Gly missense ADAMTS6 3 82390 3.64122E-5 41195 0 9.55657E-5
5-64558654-C-G p.Asp586His missense ADAMTS6 1 82394 1.21368E-5 41197 0 NA
5-64558663-T-G p.Arg583Arg synonymous ADAMTS6 1 82522 1.2118E-5 41261 0 5.22379E-6
5-64558674-G-T p.Ser579Tyr missense ADAMTS6 1 82550 1.21139E-5 41275 0 NA
5-64558679-G-T p.Gly577Gly synonymous ADAMTS6 1 82502 1.21209E-5 41251 0 NA
5-64558683-C-T p.Gly576Glu missense ADAMTS6 1 82614 1.21045E-5 41307 0 4.72617E-6
5-64558685-C-T p.Gly575Gly synonymous ADAMTS6 2 82616 2.42084E-5 41308 0 NA
5-64558722-G-A p.Pro563Leu missense ADAMTS6 1 82816 1.2075E-5 41408 0 NA
5-64558731-C-G p.Gly560Ala missense ADAMTS6 1 82856 1.20691E-5 41428 0 NA
5-64558731-C-T p.Gly560Asp missense ADAMTS6 1 82856 1.20691E-5 41428 0 NA
5-64558737-T-C p.Asp558Gly missense ADAMTS6 1 82904 1.20621E-5 41452 0 3.9969E-6
5-64558749-G-A p.Pro554Leu missense ADAMTS6 1 82916 1.20604E-5 41458 0 8.43213E-6
5-64569168-C-T p.Gly540Glu missense+splice_region ADAMTS6 1 82878 1.20659E-5 41439 0 1.64791E-5
5-64569173-T-C p.Glu538Glu synonymous ADAMTS6 1 82890 1.20642E-5 41445 0 3.1837E-5
5-64569184-C-T p.Gly535Arg missense ADAMTS6 1 82930 1.20584E-5 41465 0 NA
5-64569196-G-A p.Leu531Leu synonymous ADAMTS6 1 82962 1.20537E-5 41481 0 2.47121E-5
5-64569207-G-A p.Ala527Val missense ADAMTS6 1 82946 1.2056E-5 41473 0 NA
5-64569210-G-A p.Ala526Val missense ADAMTS6 1 82948 1.20557E-5 41474 0 5.03525E-4
5-64569215-A-G p.Ile524Ile synonymous ADAMTS6 2 82950 2.41109E-5 41475 0 NA
5-64569234-C-T p.Arg518His missense ADAMTS6 4 82926 4.82358E-5 41463 0 3.98191E-6
5-64569234-C-A p.Arg518Leu missense ADAMTS6 1 82926 1.20589E-5 41463 0 NA
5-64569235-G-A p.Arg518Cys missense ADAMTS6 2 82914 2.41214E-5 41457 0 3.18555E-5
5-64569241-T-C p.Ser516Gly missense ADAMTS6 2 82892 2.41278E-5 41446 0 6.37389E-5
5-64569260-C-G p.Glu509Asp missense ADAMTS6 1 82854 1.20694E-5 41427 0 NA
5-64587159-A-G p.Tyr503Tyr synonymous ADAMTS6 8 83338 9.59946E-5 41669 0 1.07431E-4
5-64587169-T-C p.Gln500Arg missense ADAMTS6 2 83344 2.39969E-5 41672 0 NA
5-64587171-G-C p.Arg499Arg synonymous ADAMTS6 1 83350 1.19976E-5 41675 0 NA
5-64587172-C-T p.Arg499His missense ADAMTS6 3 83352 3.59919E-5 41676 0 5.03525E-4
5-64587213-A-G p.Asp485Asp synonymous ADAMTS6 2 83362 2.39917E-5 41681 0 8.23927E-6
5-64587220-A-T p.Val483Glu missense ADAMTS6 2 83366 2.39906E-5 41683 0 NA
5-64587230-G-C p.Pro480Ala missense ADAMTS6 2 83370 2.39894E-5 41685 0 3.97978E-6
5-64587245-A-G p.Tyr475His missense ADAMTS6 1 83372 1.19944E-5 41686 0 NA
5-64587252-G-A p.Asp472Asp synonymous ADAMTS6 2 83366 2.39906E-5 41683 0 3.98013E-6
5-64587272-T-C p.Asn466Asp missense ADAMTS6 1 83364 1.19956E-5 41682 0 2.47464E-5
5-64592929-C-G c.*633+6G>C splice_region ADAMTS6 14 49638 2.82042E-4 24819 0 0.00250313
5-64593041-A-G p.Gly467Gly synonymous ADAMTS6 1 49710 2.01167E-5 24855 0 NA
5-64593059-G-A p.Leu461Leu synonymous ADAMTS6 8 49678 1.61037E-4 24839 0 8.17795E-5
5-64595836-C-T p.Arg449Gln missense ADAMTS6 12 83264 1.4412E-4 41632 0 1.65281E-4
5-64595854-G-GAA p.Ser443fs frameshift ADAMTS6 1 83292 1.2006E-5 41646 0 NA
5-64595856-A-G p.Phe442Phe synonymous ADAMTS6 1 83292 1.2006E-5 41646 0 NA
5-64595863-T-C p.Asn440Ser missense ADAMTS6 4 83296 4.80215E-5 41648 0 6.36943E-5
5-64595864-T-G p.Asn440His missense ADAMTS6 1 83294 1.20057E-5 41647 0 3.18492E-5
5-64595872-G-A p.Ala437Val missense ADAMTS6 1 83300 1.20048E-5 41650 0 NA
5-64595912-C-G p.Gly424Arg missense ADAMTS6 1 83296 1.20054E-5 41648 0 NA
5-64595912-C-A p.Gly424Cys missense ADAMTS6 1 83296 1.20054E-5 41648 0 NA
5-64595916-C-T p.Thr422Thr synonymous ADAMTS6 2 83296 2.40108E-5 41648 0 8.24443E-6
5-64595955-A-G p.Phe409Phe synonymous ADAMTS6 2 83182 2.40437E-5 41591 0 NA
5-64595965-T-A c.*350-7A>T splice_region ADAMTS6 17 83106 2.04558E-4 41553 0 7.31297E-5
5-64625202-C-T c.*349+3G>A splice_region ADAMTS6 2 81994 2.4392E-5 40997 0 NA
5-64625227-T-C p.Ile401Val missense ADAMTS6 1 82222 1.21622E-5 41111 0 NA
5-64625237-T-C p.Ser397Ser synonymous ADAMTS6 1 82272 1.21548E-5 41136 0 NA
5-64625246-G-A p.Gly394Gly synonymous ADAMTS6 1 82304 1.21501E-5 41152 0 NA
5-64625255-T-C p.Glu391Glu synonymous ADAMTS6 1 82360 1.21418E-5 41180 0 8.27472E-6
5-64625273-C-T p.Arg385Arg synonymous ADAMTS6 1 82416 1.21336E-5 41208 0 8.285E-6
5-64625275-T-A p.Arg385Trp missense ADAMTS6 1 82406 1.2135E-5 41203 0 4.00093E-6
5-64625291-T-C p.Gly379Gly synonymous ADAMTS6 1 82156 1.2172E-5 41078 0 0.0287009
5-64625291-T-TC p.Met380fs frameshift ADAMTS6 1 82248 1.21584E-5 41124 0 NA
5-64625297-C-T p.Val377Val synonymous ADAMTS6 8 82384 9.71062E-5 41192 0 2.86807E-4
5-64625302-A-G p.Ser376Pro missense ADAMTS6 2 82378 2.42783E-5 41189 0 6.36943E-5
5-64625307-A-G p.Leu374Ser missense ADAMTS6 1 82382 1.21386E-5 41191 0 NA
5-64629861-A-AAAAAAAAAAAC c.*243+7_*243+8insGTTTTTTTTTT splice_region ADAMTS6 1 79136 1.26365E-5 39568 0 NA
5-64629863-ACTT-A c.*243+3_*243+5delAAG splice_region ADAMTS6 1 78894 1.26752E-5 39447 0 3.41157E-5
5-64629864-C-A c.*243+5G>T splice_region ADAMTS6 1 75372 1.32675E-5 37686 0 0.00272959
5-64629866-T-A c.*243+3A>T splice_region ADAMTS6 1 76210 1.31216E-5 38105 0 0.00129228
5-64629872-G-A p.Leu372Leu synonymous ADAMTS6 1 77352 1.29279E-5 38676 0 2.50693E-5
5-64629903-G-T p.Ile361Ile synonymous ADAMTS6 1 79836 1.25257E-5 39918 0 NA
5-64629912-T-C p.Arg358Arg splice_region+synonymous ADAMTS6 2 80130 2.49594E-5 40065 0 NA
5-64629916-T-C c.*200-4A>G splice_region ADAMTS6 2 80380 2.48818E-5 40190 0 1.14065E-5
5-64747144-A-G n.1236T>C splice_region ADAMTS6 2 70156 2.85079E-5 35078 0 NA
5-64747309-T-C p.Ile356Val missense ADAMTS6 2 83240 2.40269E-5 41620 0 NA
5-64747376-G-A p.Leu333Leu synonymous ADAMTS6 2 83288 2.40131E-5 41644 0 NA
5-64747384-A-T p.Ser331Thr missense ADAMTS6 1 83290 1.20062E-5 41645 0 NA
5-64747386-T-TACACTA p.Lys330delinsIleValTer stop_gained ADAMTS6 1 83286 1.20068E-5 41643 0 NA
5-64747403-G-A p.Ser324Ser synonymous ADAMTS6 1 83280 1.20077E-5 41640 0 NA
5-64747424-A-G p.His317His synonymous ADAMTS6 1 83264 1.201E-5 41632 0 NA
5-64747447-G-C p.Pro310Ala missense+splice_region ADAMTS6 31 83204 3.72578E-4 41602 0 0.00140145
5-64747955-C-G c.*53+5G>C splice_region ADAMTS6 3 82590 3.6324E-5 41295 0 NA
5-64747963-A-G p.Asp308Asp synonymous ADAMTS6 12 82684 1.45131E-4 41342 0 5.09944E-4
5-64747967-T-C p.Glu307Gly missense ADAMTS6 1 82764 1.20825E-5 41382 0 2.48217E-5
5-64747993-T-A p.Ile298Ile synonymous ADAMTS6 3 83040 3.61272E-5 41520 0 5.03525E-4
5-64747993-T-C p.Ile298Met missense ADAMTS6 1 83040 1.20424E-5 41520 0 3.98194E-6
5-64748001-T-G p.Asn296His missense ADAMTS6 1 83078 1.20369E-5 41539 0 NA
5-64748007-C-T p.Val294Ile missense ADAMTS6 3 83098 3.6102E-5 41549 0 2.47807E-5
5-64748008-G-A p.Asn293Asn synonymous ADAMTS6 3 83090 3.61054E-5 41545 0 NA
5-64748012-C-T p.Gly292Glu missense ADAMTS6 2 83136 2.4057E-5 41568 0 NA
5-64748017-G-A p.Ala292Val missense ADAMTS6 2 83126 2.40599E-5 41563 0 3.98283E-6
5-64748027-C-T p.Val289Met missense ADAMTS6 1 83126 1.20299E-5 41563 0 3.18898E-5
5-64748028-G-A p.Arg287Cys missense ADAMTS6 2 83124 2.40604E-5 41562 0 6.38325E-5
5-64748028-G-T p.Arg287Ser missense ADAMTS6 2 83124 2.40604E-5 41562 0 NA
5-64748545-C-T p.Val278Met missense ADAMTS6 2 83188 2.40419E-5 41594 0 NA
5-64748572-T-C p.Lys269Glu missense ADAMTS6 1 83270 1.20091E-5 41635 0 NA
5-64748574-C-T p.Arg268His missense ADAMTS6 1 83264 1.201E-5 41632 0 3.97814E-6
5-64748586-C-T p.Gly264Asp missense ADAMTS6 1 83248 1.20123E-5 41624 0 NA
5-64748587-C-G p.Gly264Arg missense ADAMTS6 24 83254 2.88274E-4 41627 0 0.00100705
5-64748623-C-T p.Val252Met missense ADAMTS6 1 83256 1.20111E-5 41628 0 NA
5-64748625-A-C p.Phe251Cys missense ADAMTS6 1 83226 1.20155E-5 41613 0 NA
5-64748634-A-G p.Ile248Thr missense ADAMTS6 7 83220 8.41144E-5 41610 0 2.47133E-5
5-64748641-C-A p.Val246Leu missense ADAMTS6 1 83216 1.20169E-5 41608 0 NA
5-64748642-T-G p.Ser245Ser synonymous ADAMTS6 4 83214 4.80688E-5 41607 0 3.1837E-5
5-64748646-C-T p.Arg244Lys missense ADAMTS6 2 83226 2.4031E-5 41613 0 7.95741E-6
5-64748664-A-G p.Ile238Thr missense ADAMTS6 2 83246 2.40252E-5 41623 0 1.64764E-5
5-64748674-T-A p.Asn235Tyr missense ADAMTS6 2 83260 2.40211E-5 41630 0 2.47145E-5
5-64748677-T-C p.Asn234Asp missense ADAMTS6 35 83254 4.204E-4 41627 0 5.03525E-4
5-64748681-T-C p.Pro232Pro synonymous ADAMTS6 5010 83136 0.0602627 41568 200 0.0453172
5-64748683-G-A p.Pro232Ser missense ADAMTS6 1 83242 1.20132E-5 41621 0 NA
5-64748692-A-C p.Tyr229Asp missense ADAMTS6 2 83240 2.40269E-5 41620 0 NA
5-64748712-T-C p.Asn222Ser missense ADAMTS6 2 83204 2.40373E-5 41602 0 NA
5-64748724-G-A p.Pro218Leu missense ADAMTS6 14 83162 1.68346E-4 41581 0 3.05074E-4
5-64748729-G-A p.Gly216Gly synonymous ADAMTS6 1 83132 1.20291E-5 41566 0 NA
5-64748730-C-T p.Gly216Asp missense ADAMTS6 2 83108 2.40651E-5 41554 0 8.24892E-6
5-64748737-T-C p.Arg214Gly missense ADAMTS6 2 83074 2.40749E-5 41537 0 3.98572E-6
5-64748748-A-G c.632-3T>C splice_region ADAMTS6 3 82952 3.61655E-5 41476 0 1.03709E-4
5-64755999-G-A p.Ser210Leu missense+splice_region ADAMTS6 8 83340 9.59923E-5 41670 0 1.27413E-4
5-64756007-A-G p.Cys207Cys synonymous ADAMTS6 2 83342 2.39975E-5 41671 0 3.29902E-5
5-64756013-A-G p.Ser205Ser synonymous ADAMTS6 1 83354 1.1997E-5 41677 0 NA
5-64756021-C-A p.Asp203Tyr missense ADAMTS6 1 83346 1.19982E-5 41673 0 9.06723E-5
5-64756031-T-C p.Arg199Arg synonymous ADAMTS6 2 83348 2.39958E-5 41674 0 6.25E-4
5-64756035-T-C p.Gln198Arg missense ADAMTS6 1 83348 1.19979E-5 41674 0 NA
5-64756044-G-C p.Ala195Gly missense ADAMTS6 1 83350 1.19976E-5 41675 0 NA
5-64756069-G-T p.Pro187Thr missense ADAMTS6 1 83336 1.19996E-5 41668 0 8.23764E-6
5-64756070-G-A p.His186His synonymous ADAMTS6 2 83338 2.39987E-5 41669 0 8.2375E-6
5-64756073-G-A p.Gly185Gly synonymous ADAMTS6 1 83328 1.20008E-5 41664 0 1.40035E-4
5-64756086-C-G p.Ser181Thr missense ADAMTS6 1 83318 1.20022E-5 41659 0 NA
5-64756095-T-A p.Lys178Met missense ADAMTS6 1 83302 1.20045E-5 41651 0 1.89459E-4
5-64756105-C-G p.Glu175Gln missense ADAMTS6 1 83298 1.20051E-5 41649 0 NA
5-64756123-G-T p.Pro169Thr missense ADAMTS6 1 83250 1.2012E-5 41625 0 3.98444E-6
5-64756126-C-T p.Glu168Lys missense ADAMTS6 1 83234 1.20143E-5 41617 0 NA
5-64756127-G-A p.Ile167Ile synonymous ADAMTS6 3 83238 3.60412E-5 41619 0 9.55962E-5
5-64756136-C-T p.Glu164Glu synonymous ADAMTS6 2 83220 2.40327E-5 41610 0 5.77911E-5
5-64756144-C-A p.Asp162Tyr missense ADAMTS6 38 83202 4.5672E-4 41601 0 6.45225E-4
5-64756159-C-T p.Val157Ile missense ADAMTS6 1 83036 1.2043E-5 41518 0 8.49142E-6
5-64756163-A-T p.His155Gln missense+splice_region ADAMTS6 4 82936 4.823E-5 41468 0 2.51345E-5
5-64756164-T-C p.His155Arg missense+splice_region ADAMTS6 88 82912 0.00106137 41456 0 0.00168876
5-64766637-T-C p.Thr144Ala missense ADAMTS6 2 83028 2.40883E-5 41514 0 NA
5-64766642-C-G p.Ser142Thr missense ADAMTS6 1 83114 1.20317E-5 41557 0 NA
5-64766645-C-T p.Arg141His missense ADAMTS6 3 83140 3.60837E-5 41570 0 6.25E-4
5-64766658-A-C p.Leu137Val missense ADAMTS6 3 83184 3.60646E-5 41592 0 1.15477E-4
5-64766660-T-C p.Tyr136Cys missense ADAMTS6 1 83184 1.20215E-5 41592 0 1.21509E-5
5-64766696-T-G p.Lys124Thr missense ADAMTS6 1 83254 1.20114E-5 41627 0 NA
5-64766716-C-A p.Gly117Gly synonymous ADAMTS6 2 83274 2.40171E-5 41637 0 3.18878E-5
5-64766722-A-C p.Tyr115* stop_gained ADAMTS6 1 83280 1.20077E-5 41640 0 4.01548E-6
5-64766763-G-C p.Leu102Val missense ADAMTS6 6 83284 7.20426E-5 41642 0 2.22987E-4
5-64766769-A-G p.Leu100Leu synonymous ADAMTS6 1 83274 1.20085E-5 41637 0 NA
5-64766776-A-G p.His97His synonymous ADAMTS6 1 83262 1.20103E-5 41631 0 3.99495E-6
5-64766798-G-A p.Ser90Leu missense ADAMTS6 164 83230 0.00197044 41615 0 0.00149844
5-64766800-A-G p.Leu89Leu synonymous ADAMTS6 1 83234 1.20143E-5 41617 0 NA
5-64766817-T-G p.Lys84Gln missense ADAMTS6 3 83238 3.60412E-5 41619 0 3.9983E-6
5-64766835-G-T p.Pro78Thr missense ADAMTS6 2 83252 2.40234E-5 41626 0 NA
5-64766844-G-A p.Pro75Ser missense ADAMTS6 1 83256 1.20111E-5 41628 0 NA
5-64766859-T-G p.Arg70Arg synonymous ADAMTS6 100 83246 0.00120126 41623 1 0.00298688
5-64766866-T-C p.Ser67Ser synonymous ADAMTS6 1 83244 1.20129E-5 41622 0 NA
5-64766870-T-C p.His66Arg missense ADAMTS6 4 83228 4.80607E-5 41614 0 1.21074E-5
5-64766870-T-G p.His66Pro missense ADAMTS6 1 83228 1.20152E-5 41614 0 3.18552E-5
5-64766908-A-G p.Asn53Asn synonymous ADAMTS6 1 83166 1.20241E-5 41583 0 3.18552E-5
5-64766940-G-C p.Gln43Glu missense ADAMTS6 1 83036 1.2043E-5 41518 0 8.37598E-6
5-64766946-G-A p.His41Tyr missense ADAMTS6 1 82980 1.20511E-5 41490 0 NA
5-64766946-G-T p.His41Asn missense ADAMTS6 1 82980 1.20511E-5 41490 0 NA
5-64766965-T-A p.Glu34Asp missense ADAMTS6 4 82640 4.84027E-5 41320 0 NA
5-64766968-C-A p.Glu33Asp missense+splice_region ADAMTS6 1 82570 1.21109E-5 41285 0 NA
5-64766968-C-T p.Glu33Glu splice_region+synonymous ADAMTS6 1 82570 1.21109E-5 41285 0 NA
5-64766975-T-C c.98-6A>G splice_region ADAMTS6 1 82322 1.21474E-5 41161 0 4.76544E-6
5-64769421-A-G p.Leu27Pro missense ADAMTS6 1 83046 1.20415E-5 41523 0 3.97912E-6
5-64769435-A-G p.His22His synonymous ADAMTS6 1 83096 1.20343E-5 41548 0 3.18654E-5
5-64769455-T-A p.Met16Leu missense ADAMTS6 1 83128 1.20296E-5 41564 0 2.47174E-5
5-64769461-G-A p.Leu14Phe missense ADAMTS6 1 83110 1.20322E-5 41555 0 NA
5-64769481-G-A p.Thr7Met missense ADAMTS6 1 83034 1.20433E-5 41517 0 6.25E-4
5-64769548-G-C c.-48C>G 5_prime_UTR_premature_start_codon_gain ADAMTS6 3 81874 3.66417E-5 40937 0 6.37511E-5
5-64769570-G-A c.-70C>T 5_prime_UTR_premature_start_codon_gain ADAMTS6 1 79754 1.25386E-5 39877 0 NA
5-64769607-A-G c.-107T>C 5_prime_UTR_premature_start_codon_gain ADAMTS6 1 72310 1.38293E-5 36155 0 NA
5-64769718-T-C c.-218A>G 5_prime_UTR_premature_start_codon_gain ADAMTS6 2 38196 5.23615E-5 19098 0 NA
5-64769783-G-GA c.-279-5_-279-4insT splice_region ADAMTS6 5 15856 3.15338E-4 7928 0 4.93299E-4
5-64769783-GA-G c.-279-5delT splice_region ADAMTS6 2 15940 1.25471E-4 7970 0 5.34408E-4
5-64769783-G-A c.-279-4C>T splice_region ADAMTS6 2 15986 1.25109E-4 7993 0 4.11083E-4