Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-33523640-T-G c.*3653A>C splice_region ADAMTS12 2 142 0.0140845 71 0 NA
5-33527295-A-G p.Ter1510Glnext*? stop_lost ADAMTS12 1 82830 1.20729E-5 41415 0 8.23927E-6
5-33527301-C-T p.Glu1508Lys missense ADAMTS12 1 82882 1.20653E-5 41441 0 NA
5-33527307-A-G p.Ser1506Pro missense ADAMTS12 2396 82912 0.0288981 41456 204 0.0665944
5-33527308-CT-C p.Lys1505fs frameshift ADAMTS12 5 82968 6.02642E-5 41484 0 2.23001E-4
5-33527320-C-T p.Arg1501Arg synonymous ADAMTS12 36 83116 4.3313E-4 41558 0 0.00121058
5-33527321-C-A p.Arg1501Leu missense ADAMTS12 3 83142 3.60828E-5 41571 0 NA
5-33527321-C-T p.Arg1501Gln missense ADAMTS12 5 83142 6.01381E-5 41571 0 1.91119E-4
5-33527330-C-T p.Arg1498Lys missense ADAMTS12 1 83248 1.20123E-5 41624 0 8.23696E-6
5-33527331-T-C p.Arg1498Gly missense ADAMTS12 1 83252 1.20117E-5 41626 0 1.59317E-4
5-33527342-G-T p.Thr1494Asn missense ADAMTS12 1 83298 1.20051E-5 41649 0 3.97662E-6
5-33527350-G-A p.Ile1491Ile synonymous ADAMTS12 1 83340 1.1999E-5 41670 0 9.5584E-5
5-33527361-G-C p.Gln1488Glu missense ADAMTS12 2 83328 2.40015E-5 41664 0 NA
5-33527368-C-T p.Ser1485Ser synonymous ADAMTS12 10 83312 1.20031E-4 41656 0 3.18695E-5
5-33527369-G-A p.Ser1485Leu missense ADAMTS12 2 83304 2.40085E-5 41652 0 1.19366E-5
5-33527382-C-G p.Glu1481Gln missense ADAMTS12 1 83292 1.2006E-5 41646 0 8.2371E-6
5-33527389-C-A p.Val1478Val synonymous ADAMTS12 2 83268 2.40188E-5 41634 0 NA
5-33527391-C-T p.Val1478Met missense ADAMTS12 2 83266 2.40194E-5 41633 0 3.18654E-5
5-33527402-G-T p.Ser1474Tyr missense ADAMTS12 1 83240 1.20135E-5 41620 0 8.23655E-6
5-33527414-A-G p.Met1470Thr missense ADAMTS12 1 83202 1.20189E-5 41601 0 NA
5-33527416-G-A p.Ala1469Ala synonymous ADAMTS12 1 83200 1.20192E-5 41600 0 NA
5-33527422-C-A p.Leu1467Leu synonymous ADAMTS12 1 83168 1.20239E-5 41584 0 NA
5-33527426-G-A p.Thr1466Ile missense ADAMTS12 5 83142 6.01381E-5 41571 0 3.295E-5
5-33527438-C-G p.Ser1462Thr missense ADAMTS12 6 83082 7.22178E-5 41541 0 5.03525E-4
5-33527446-C-G p.Leu1459Leu synonymous ADAMTS12 15 83038 1.8064E-4 41519 0 2.23015E-4
5-33527447-A-G p.Leu1459Pro missense ADAMTS12 2 83034 2.40865E-5 41517 0 3.98007E-6
5-33527454-C-G p.Asp1457His missense ADAMTS12 1 82980 1.20511E-5 41490 0 NA
5-33527471-T-A p.Asp1451Val missense+splice_region ADAMTS12 1 82684 1.20942E-5 41342 0 3.99546E-5
5-33527475-T-C c.4352-4A>G splice_region ADAMTS12 3 82544 3.63443E-5 41272 0 NA
5-33534935-C-A c.4351+3G>T splice_region ADAMTS12 7 83354 8.39792E-5 41677 0 1.59205E-4
5-33534939-G-A p.Ala1450Ala splice_region+synonymous ADAMTS12 8 83356 9.59739E-5 41678 0 2.01232E-5
5-33534956-C-A p.Ala1445Ser missense ADAMTS12 1 83386 1.19924E-5 41693 0 NA
5-33534972-T-C p.Lys1439Lys synonymous ADAMTS12 1 83390 1.19918E-5 41695 0 NA
5-33534975-G-T p.Phe1438Leu missense ADAMTS12 1 83382 1.1993E-5 41691 0 NA
5-33534983-G-T p.Pro1436Thr missense ADAMTS12 1 83370 1.19947E-5 41685 0 NA
5-33534986-G-A p.Pro1435Ser missense ADAMTS12 1 83376 1.19939E-5 41688 0 NA
5-33534988-C-G p.Arg1434Thr missense ADAMTS12 1 83374 1.19941E-5 41687 0 NA
5-33534992-G-T p.Pro1433Thr missense ADAMTS12 1 83370 1.19947E-5 41685 0 3.97874E-6
5-33534994-T-C p.Lys1432Arg missense ADAMTS12 123 83368 0.00147539 41684 0 0.00410854
5-33535010-A-T p.Cys1427Ser missense ADAMTS12 1 83336 1.19996E-5 41668 0 NA
5-33535011-T-C p.Gln1426Gln synonymous ADAMTS12 3 83334 3.59997E-5 41667 0 3.18512E-5
5-33535011-T-A p.Gln1426His missense ADAMTS12 1 83334 1.19999E-5 41667 0 8.24131E-6
5-33535014-G-C p.Asp1425Glu missense ADAMTS12 1 83324 1.20013E-5 41662 0 3.18532E-5
5-33535022-C-T p.Asp1423Asn missense ADAMTS12 1 83304 1.20042E-5 41652 0 1.56587E-4
5-33535031-T-G p.Lys1420Gln missense ADAMTS12 4 83288 4.80261E-5 41644 0 1.64837E-5
5-33535031-T-C p.Lys1420Glu missense ADAMTS12 1 83288 1.20065E-5 41644 0 1.19401E-4
5-33535035-G-A p.Gly1418Gly synonymous ADAMTS12 1 83268 1.20094E-5 41634 0 1.19445E-5
5-33535048-A-G p.Val1414Ala missense ADAMTS12 20 83222 2.40321E-4 41611 0 0.00100705
5-33535051-C-T p.Cys1413Tyr missense ADAMTS12 1 83208 1.20181E-5 41604 0 NA
5-33535053-T-C p.Gln1412Gln synonymous ADAMTS12 13 83198 1.56254E-4 41599 0 0.00223072
5-33535060-G-A p.Thr1410Ile missense ADAMTS12 35176 81422 0.432021 40711 7893 0.514602
5-33535067-T-C p.Lys1408Glu missense ADAMTS12 1 83078 1.20369E-5 41539 0 NA
5-33535069-T-C p.Gln1407Arg missense ADAMTS12 1 83068 1.20383E-5 41534 0 1.22751E-5
5-33535070-G-T p.Gln1407Lys missense ADAMTS12 2 83060 2.4079E-5 41530 0 3.18593E-5
5-33535096-C-T p.Cys1398Tyr missense+splice_region ADAMTS12 1 82838 1.20718E-5 41419 0 4.21003E-6
5-33546159-C-T c.4191+5G>A splice_region ADAMTS12 2 83006 2.40946E-5 41503 0 NA
5-33546172-A-G p.Trp1395Arg missense ADAMTS12 3 83184 3.60646E-5 41592 0 8.24511E-6
5-33546181-T-G p.Thr1392Pro missense ADAMTS12 1 83240 1.20135E-5 41620 0 NA
5-33546182-G-C p.Ala1391Ala synonymous ADAMTS12 23 83248 2.76283E-4 41624 0 5.47187E-4
5-33546207-T-C p.Asn1383Ser missense ADAMTS12 191 83342 0.00229176 41671 0 0.00191994
5-33546235-T-C p.Lys1374Glu missense ADAMTS12 1 83350 1.19976E-5 41675 0 NA
5-33546237-G-C p.Thr1373Arg missense ADAMTS12 1 83348 1.19979E-5 41674 0 3.97804E-6
5-33546249-A-G p.Leu1369Pro missense ADAMTS12 1 83330 1.20005E-5 41665 0 NA
5-33546250-G-A p.Leu1369Phe missense ADAMTS12 1 83326 1.20011E-5 41663 0 3.97823E-6
5-33546251-G-A p.Gly1368Gly synonymous ADAMTS12 1 83312 1.20031E-5 41656 0 NA
5-33546255-C-T p.Gly1367Glu missense ADAMTS12 1 83318 1.20022E-5 41659 0 NA
5-33546259-G-C p.Pro1366Ala missense ADAMTS12 1 83318 1.20022E-5 41659 0 8.256E-6
5-33546260-A-C p.Cys1365Trp missense ADAMTS12 1 83318 1.20022E-5 41659 0 8.25641E-6
5-33546278-C-T p.Gln1359Gln synonymous ADAMTS12 21 83276 2.52173E-4 41638 0 1.9926E-4
5-33546282-A-G p.Val1358Ala missense ADAMTS12 1 83262 1.20103E-5 41631 0 NA
5-33546305-GC-TT p.Cys1350* stop_gained ADAMTS12 1 83148 1.20267E-5 41574 0 NA
5-33549308-C-A c.4047+4G>T splice_region ADAMTS12 1 83034 1.20433E-5 41517 0 8.54526E-6
5-33549310-A-G c.4047+2T>C splice_donor ADAMTS12 29 83052 3.49179E-4 41526 0 1.39833E-4
5-33549312-C-T p.Gln1349Gln splice_region+synonymous ADAMTS12 3 83102 3.61002E-5 41551 0 1.6971E-5
5-33549324-C-T p.Glu1345Glu synonymous ADAMTS12 1 83178 1.20224E-5 41589 0 3.35379E-5
5-33549329-C-T p.Val1344Met missense ADAMTS12 1 83230 1.20149E-5 41615 0 NA
5-33549336-C-T p.Ala1341Ala synonymous ADAMTS12 2 83256 2.40223E-5 41628 0 3.58363E-5
5-33549337-G-A p.Ala1341Val missense ADAMTS12 4 83264 4.804E-5 41632 0 2.49314E-5
5-33549339-C-T p.Glu1340Glu synonymous ADAMTS12 1 83282 1.20074E-5 41641 0 8.30234E-6
5-33549344-A-G p.Cys1339Arg missense ADAMTS12 1 83280 1.20077E-5 41640 0 NA
5-33549348-C-T p.Glu1337Glu synonymous ADAMTS12 1 83294 1.20057E-5 41647 0 NA
5-33549350-C-G p.Glu1337Gln missense ADAMTS12 1872 83252 0.0224859 41626 41 0.029768
5-33549352-G-A p.Pro1336Leu missense ADAMTS12 6 83300 7.20288E-5 41650 0 0.00125
5-33549352-G-T p.Pro1336Gln missense ADAMTS12 1 83300 1.20048E-5 41650 0 8.27801E-6
5-33549358-C-T p.Cys1334Tyr missense ADAMTS12 1 83316 1.20025E-5 41658 0 4.13339E-5
5-33549363-C-T p.Met1332Ile missense ADAMTS12 3 83322 3.60049E-5 41661 0 5.78388E-5
5-33549367-C-G p.Ser1331Thr missense ADAMTS12 1 83320 1.20019E-5 41660 0 NA
5-33549372-T-TG p.Leu1330fs frameshift ADAMTS12 2 83328 2.40015E-5 41664 0 NA
5-33549374-G-T p.Pro1329Thr missense ADAMTS12 1876 83292 0.0225232 41646 42 0.0297172
5-33549377-G-T p.Pro1328Thr missense ADAMTS12 1 83330 1.20005E-5 41665 0 NA
5-33549386-C-T p.Gly1325Ser missense ADAMTS12 16 83326 1.92017E-4 41663 0 1.19321E-4
5-33549387-G-A p.Ala1324Ala synonymous ADAMTS12 7780 83224 0.0934827 41612 413 0.098125
5-33549388-G-T p.Ala1324Asp missense ADAMTS12 2 83320 2.40038E-5 41660 0 1.6497E-5
5-33549394-A-G p.Phe1322Ser missense ADAMTS12 1 83318 1.20022E-5 41659 0 1.19319E-5
5-33549397-T-C p.Gln1321Arg missense ADAMTS12 2 83324 2.40027E-5 41662 0 8.24647E-6
5-33549403-T-C p.His1319Arg missense ADAMTS12 1 83316 1.20025E-5 41658 0 NA
5-33549411-C-T p.Arg1316Arg synonymous ADAMTS12 82 83318 9.84181E-4 41659 0 0.005
5-33549416-G-A p.Leu1315Leu synonymous ADAMTS12 1 83334 1.19999E-5 41667 0 3.57967E-5
5-33549417-G-A p.Asn1314Asn synonymous ADAMTS12 2 83336 2.39992E-5 41668 0 NA
5-33549422-G-A p.Arg1313Trp missense ADAMTS12 84 83328 0.00100806 41664 2 0.00162514
5-33549430-C-T p.Arg1310Gln missense ADAMTS12 10 83340 1.1999E-4 41670 0 8.75051E-5
5-33549435-G-C p.Asp1308Glu missense ADAMTS12 285 83342 0.00341964 41671 3 0.00732624
5-33549435-G-A p.Asp1308Asp synonymous ADAMTS12 1 83342 1.19988E-5 41671 0 NA
5-33549440-C-T p.Val1307Met missense ADAMTS12 1 83348 1.19979E-5 41674 0 8.2526E-6
5-33549443-A-C p.Cys1306Gly missense ADAMTS12 1 83350 1.19976E-5 41675 0 NA
5-33549454-C-T p.Arg1302His missense ADAMTS12 1 83342 1.19988E-5 41671 0 8.26733E-6
5-33549455-G-A p.Arg1302Cys missense ADAMTS12 1 83346 1.19982E-5 41673 0 1.19353E-5
5-33549464-A-C p.Phe1299Val missense ADAMTS12 1 83342 1.19988E-5 41671 0 NA
5-33549465-G-A p.Gly1298Gly synonymous ADAMTS12 1 83348 1.19979E-5 41674 0 3.18492E-5
5-33549469-C-G p.Gly1297Ala missense ADAMTS12 1 83340 1.1999E-5 41670 0 8.29435E-6
5-33549476-A-C p.Cys1295Gly missense ADAMTS12 1 83326 1.20011E-5 41663 0 3.9814E-6
5-33549489-C-A c.3871-1G>T splice_acceptor ADAMTS12 1 83304 1.20042E-5 41652 0 NA
5-33549490-T-A c.3871-2A>T splice_acceptor ADAMTS12 7 83312 8.40215E-5 41656 0 6.70578E-5
5-33549491-G-A c.3871-3C>T splice_region ADAMTS12 2 83306 2.40079E-5 41653 0 3.19849E-5
5-33561125-A-G c.3870+7T>C splice_region ADAMTS12 50 83336 5.99981E-4 41668 0 6.25E-4
5-33561126-A-C c.3870+6T>G splice_region ADAMTS12 2 83336 2.39992E-5 41668 0 NA
5-33561132-C-T p.Lys1290Lys splice_region+synonymous ADAMTS12 1 83340 1.1999E-5 41670 0 3.18857E-5
5-33561144-T-A p.Gly1286Gly synonymous ADAMTS12 2 83348 2.39958E-5 41674 0 NA
5-33561158-C-T p.Gly1282Ser missense ADAMTS12 2 83340 2.39981E-5 41670 0 NA
5-33561169-C-T p.Arg1278His missense ADAMTS12 2 83332 2.40004E-5 41666 0 6.37227E-5
5-33561170-G-A p.Arg1278Cys missense ADAMTS12 6 83330 7.20029E-5 41665 0 4.37734E-5
5-33561189-A-G p.Pro1271Pro synonymous ADAMTS12 1 83318 1.20022E-5 41659 0 7.95735E-6
5-33561209-C-T p.Ala1265Thr missense ADAMTS12 1 83276 1.20083E-5 41638 0 3.97861E-6
5-33561211-G-A p.Ala1264Val missense ADAMTS12 2 83268 2.40188E-5 41634 0 6.37592E-5
5-33561219-A-G p.Ser1261Ser synonymous ADAMTS12 2 83248 2.40246E-5 41624 0 NA
5-33561232-G-A p.Thr1257Ile missense ADAMTS12 1 83200 1.20192E-5 41600 0 NA
5-33561245-C-T p.Val1253Met missense ADAMTS12 1 83154 1.20259E-5 41577 0 NA
5-33561250-C-T p.Arg1251Lys missense ADAMTS12 1 83142 1.20276E-5 41571 0 0.001875
5-33561252-C-G p.Trp1250Cys missense ADAMTS12 4 83124 4.81209E-5 41562 0 7.96407E-6
5-33561253-C-A p.Trp1250Leu missense ADAMTS12 1 83114 1.20317E-5 41557 0 NA
5-33561259-G-C p.Ala1248Gly missense ADAMTS12 1 83022 1.2045E-5 41511 0 8.25559E-6
5-33561267-G-A p.Gly1245Gly synonymous ADAMTS12 3 82952 3.61655E-5 41476 0 8.26119E-6
5-33561272-A-C p.Cys1244Gly missense ADAMTS12 2 82906 2.41237E-5 41453 0 3.98683E-6
5-33561279-G-A p.Ser1241Ser synonymous ADAMTS12 1 82802 1.2077E-5 41401 0 NA
5-33561285-C-T c.3718-1G>A splice_acceptor ADAMTS12 1 82704 1.20913E-5 41352 0 NA
5-33576161-C-T p.Glu1239Lys missense+splice_region ADAMTS12 4 83132 4.81162E-5 41566 0 2.53932E-5
5-33576173-C-T p.Gly1235Arg missense ADAMTS12 2 83210 2.40356E-5 41605 0 2.50422E-5
5-33576175-A-G p.Val1234Ala missense ADAMTS12 3 83202 3.60568E-5 41601 0 NA
5-33576176-C-T p.Val1234Ile missense ADAMTS12 3 83226 3.60464E-5 41613 0 0.00100705
5-33576177-G-A p.Ile1233Ile synonymous ADAMTS12 3 83248 3.60369E-5 41624 0 0.00100705
5-33576178-A-T p.Ile1233Asn missense ADAMTS12 2 83262 2.40206E-5 41631 0 1.65791E-5
5-33576180-C-A p.Trp1232Cys missense ADAMTS12 1 83276 1.20083E-5 41638 0 3.19025E-5
5-33576189-A-T p.Ser1229Ser synonymous ADAMTS12 2 83330 2.4001E-5 41665 0 NA
5-33576195-G-A p.His1227His synonymous ADAMTS12 21 83354 2.51938E-4 41677 0 2.5481E-4
5-33576201-G-A p.Asn1225Asn synonymous ADAMTS12 1 83368 1.1995E-5 41684 0 3.29853E-5
5-33576213-C-T p.Lys1221Lys synonymous ADAMTS12 2 83384 2.39854E-5 41692 0 6.25E-4
5-33576225-G-T p.Ala1217Ala synonymous ADAMTS12 4 83388 4.79685E-5 41694 0 1.1931E-5
5-33576230-T-C p.Asn1216Asp missense ADAMTS12 1 83386 1.19924E-5 41693 0 NA
5-33576242-C-T p.Gly1212Ser missense ADAMTS12 1 83392 1.19916E-5 41696 0 3.97655E-6
5-33576243-C-T p.Glu1211Glu synonymous ADAMTS12 2 83392 2.39831E-5 41696 0 NA
5-33576249-A-C p.Ile1209Met missense ADAMTS12 9 83392 1.07924E-4 41696 0 9.5584E-5
5-33576274-G-C p.Thr1201Ser missense ADAMTS12 2 83390 2.39837E-5 41695 0 NA
5-33576276-C-G p.Leu1200Leu synonymous ADAMTS12 1 83390 1.19918E-5 41695 0 8.23642E-6
5-33576300-T-C p.Gln1192Gln synonymous ADAMTS12 1 83400 1.19904E-5 41700 0 1.64728E-5
5-33576308-T-C p.Met1190Val missense ADAMTS12 2 83398 2.39814E-5 41699 0 7.41278E-5
5-33576320-G-C p.Leu1186Val missense ADAMTS12 1 83402 1.19901E-5 41701 0 NA
5-33576325-A-T p.Leu1184Gln missense ADAMTS12 2 83398 2.39814E-5 41699 0 3.97725E-6
5-33576334-C-T p.Arg1181His missense ADAMTS12 11 83388 1.31913E-4 41694 0 4.11855E-5
5-33576335-G-A p.Arg1181Cys missense ADAMTS12 4 83390 4.79674E-5 41695 0 3.29473E-5
5-33576335-G-T p.Arg1181Ser missense ADAMTS12 1 83390 1.19918E-5 41695 0 7.95539E-6
5-33576338-T-G p.Asn1180His missense ADAMTS12 1 83386 1.19924E-5 41693 0 NA
5-33576343-G-A p.Thr1178Met missense ADAMTS12 4 83382 4.7972E-5 41691 0 1.2738E-4
5-33576359-C-T p.Glu1173Lys missense ADAMTS12 1 83376 1.19939E-5 41688 0 NA
5-33576363-C-G p.Gln1171His missense ADAMTS12 1 83374 1.19941E-5 41687 0 NA
5-33576377-C-G p.Gly1167Arg missense ADAMTS12 2 83378 2.39871E-5 41689 0 5.03525E-4
5-33576385-A-G p.Leu1164Pro missense ADAMTS12 1 83378 1.19936E-5 41689 0 2.47129E-5
5-33576393-G-T p.Asn1161Lys missense ADAMTS12 1 83376 1.19939E-5 41688 0 3.97744E-6
5-33576394-T-C p.Asn1161Ser missense ADAMTS12 1 83376 1.19939E-5 41688 0 1.64739E-5
5-33576401-G-C p.Pro1159Ala missense ADAMTS12 4 83374 4.79766E-5 41687 0 1.59118E-5
5-33576410-T-C p.Thr1156Ala missense ADAMTS12 65 83372 7.79638E-4 41686 0 0.00156081
5-33576422-C-T p.Glu1152Lys missense ADAMTS12 21 83368 2.51895E-4 41684 0 6.59055E-5
5-33576429-G-T p.Pro1149Pro synonymous ADAMTS12 11 83364 1.31951E-4 41682 0 4.14065E-4
5-33576429-G-C p.Pro1149Pro synonymous ADAMTS12 1 83364 1.19956E-5 41682 0 3.97801E-6
5-33576434-T-C p.Thr1148Ala missense ADAMTS12 2 83370 2.39894E-5 41685 0 8.23818E-6
5-33576443-C-T p.Glu1145Lys missense ADAMTS12 4 83358 4.79858E-5 41679 0 7.41546E-5
5-33576456-C-T p.Arg1140Arg synonymous ADAMTS12 2 83346 2.39964E-5 41673 0 NA
5-33576482-T-C p.Met1132Val missense ADAMTS12 3 83326 3.60032E-5 41663 0 2.3876E-5
5-33576486-T-C p.Thr1130Thr synonymous ADAMTS12 1 83326 1.20011E-5 41663 0 3.9801E-6
5-33576495-G-T p.Pro1127Pro synonymous ADAMTS12 3 83322 3.60049E-5 41661 0 1.59251E-5
5-33576504-C-A p.Trp1124Cys missense ADAMTS12 1 83326 1.20011E-5 41663 0 NA
5-33576518-T-C p.Ser1120Gly missense ADAMTS12 1 83314 1.20028E-5 41657 0 3.9895E-6
5-33576522-A-T p.Asp1118Glu missense ADAMTS12 8 83306 9.60315E-5 41653 0 2.49534E-5
5-33576529-G-A p.Thr1116Ile missense ADAMTS12 269 83282 0.00322999 41641 3 0.00640168
5-33576540-T-G p.Ala1112Ala synonymous ADAMTS12 8 83234 9.61146E-5 41617 0 2.231E-4
5-33576541-G-GCAA p.Leu1111_Ala1112insVal conservative_inframe_insertion ADAMTS12 1 83232 1.20146E-5 41616 0 NA
5-33576546-TGG-T p.Pro1110fs frameshift ADAMTS12 1 83210 1.20178E-5 41605 0 4.01745E-6
5-33576557-T-C p.Thr1107Ala missense ADAMTS12 1 83122 1.20305E-5 41561 0 NA
5-33576561-T-C p.Glu1105Glu synonymous ADAMTS12 2 83086 2.40714E-5 41543 0 6.25E-4
5-33576562-T-C p.Glu1105Gly missense ADAMTS12 1 83080 1.20366E-5 41540 0 NA
5-33576565-A-C p.Val1104Gly missense ADAMTS12 1 83058 1.20398E-5 41529 0 4.05242E-6
5-33576573-G-A p.Asp1101Asp synonymous ADAMTS12 2 82984 2.4101E-5 41492 0 1.77042E-4
5-33576577-T-C p.Asn1100Ser missense ADAMTS12 1 82950 1.20555E-5 41475 0 4.06822E-6
5-33576584-G-C p.Pro1098Ala missense ADAMTS12 1 82876 1.20662E-5 41438 0 NA
5-33576602-A-G p.Trp1092Arg missense ADAMTS12 7329 82368 0.0889787 41184 373 0.106747
5-33576603-T-A p.Ile1091Ile synonymous ADAMTS12 1 82566 1.21115E-5 41283 0 NA
5-33576603-T-C p.Ile1091Met missense ADAMTS12 1 82566 1.21115E-5 41283 0 8.42063E-6
5-33576613-T-C p.Asn1088Ser missense ADAMTS12 1 82346 1.21439E-5 41173 0 6.36983E-5
5-33576628-T-A p.Asp1083Val missense ADAMTS12 1 81750 1.22324E-5 40875 0 NA
5-33576629-C-G p.Asp1083His missense ADAMTS12 11 81692 1.34652E-4 40846 1 9.5511E-5
5-33576634-G-T p.Pro1081His missense ADAMTS12 2 81528 2.45314E-5 40764 0 6.4156E-5
5-33576650-C-T p.Glu1076Lys missense ADAMTS12 3 80874 3.70947E-5 40437 0 4.80392E-5
5-33576650-C-G p.Glu1076Gln missense ADAMTS12 1 80874 1.23649E-5 40437 0 NA
5-33576678-T-C p.Pro1066Pro synonymous ADAMTS12 2 80886 2.47262E-5 40443 0 NA
5-33576683-C-T p.Gly1065Ser missense ADAMTS12 1 81024 1.2342E-5 40512 0 6.36821E-5
5-33576690-C-T p.Leu1062Leu synonymous ADAMTS12 1 81250 1.23077E-5 40625 0 1.59784E-5
5-33576696-A-T p.Asn1060Lys missense ADAMTS12 1 81556 1.22615E-5 40778 0 NA
5-33576728-G-C p.Pro1050Ala missense ADAMTS12 2 82226 2.43232E-5 41113 0 5.18445E-5
5-33576728-G-A p.Pro1050Ser missense ADAMTS12 2 82226 2.43232E-5 41113 0 3.18471E-5
5-33576732-G-C p.Arg1048Arg synonymous ADAMTS12 2 82264 2.4312E-5 41132 0 1.64878E-5
5-33576733-C-T p.Arg1048His missense ADAMTS12 3 82252 3.64733E-5 41126 0 5.03525E-4
5-33576734-G-A p.Arg1048Cys missense ADAMTS12 1 82300 1.21507E-5 41150 0 3.58863E-5
5-33576734-G-T p.Arg1048Ser missense ADAMTS12 1 82300 1.21507E-5 41150 0 NA
5-33576735-G-T p.Ser1047Ser synonymous ADAMTS12 1 82316 1.21483E-5 41158 0 3.1835E-5
5-33576736-G-A p.Ser1047Phe missense ADAMTS12 1 82334 1.21457E-5 41167 0 NA
5-33576751-G-C p.Ser1042Cys missense ADAMTS12 2 82562 2.42242E-5 41281 0 NA
5-33576757-CTTG-C p.Thr1039del disruptive_inframe_deletion ADAMTS12 2 82618 2.42078E-5 41309 0 2.14274E-4
5-33576760-G-T p.Thr1039Lys missense ADAMTS12 1 82628 1.21024E-5 41314 0 8.2428E-6
5-33576775-A-G p.Leu1034Pro missense ADAMTS12 1 82752 1.20843E-5 41376 0 NA
5-33576776-G-A p.Leu1034Phe missense ADAMTS12 4 82760 4.83325E-5 41380 0 1.64821E-4
5-33576779-C-G p.Gly1033Arg missense ADAMTS12 2 82774 2.41622E-5 41387 0 NA
5-33576781-C-T p.Gly1032Glu missense ADAMTS12 3 82792 3.62354E-5 41396 0 NA
5-33576786-C-T p.Ser1030Ser synonymous ADAMTS12 6 82812 7.24533E-5 41406 0 1.23613E-4
5-33576787-G-A p.Ser1030Leu missense ADAMTS12 14 82824 1.69033E-4 41412 0 9.55414E-5
5-33576803-C-T p.Asp1025Asn missense ADAMTS12 7 82912 8.44269E-5 41456 0 8.75957E-5
5-33576810-G-A p.Ser1022Ser synonymous ADAMTS12 114 82924 0.00137475 41462 2 0.00503525
5-33576811-G-A p.Ser1022Phe missense ADAMTS12 1 82924 1.20592E-5 41462 0 9.06469E-5
5-33576817-T-TGTTAGTGGAGGTGCAAGTGGCATTTCTGTAC p.Asn1020fs frameshift ADAMTS12 1 82940 1.20569E-5 41470 0 NA
5-33576821-C-T p.Glu1019Lys missense ADAMTS12 1 82940 1.20569E-5 41470 0 1.64815E-5
5-33576850-G-C p.Ser1009Cys missense ADAMTS12 1 82954 1.20549E-5 41477 0 3.98102E-6
5-33576859-A-G p.Ile1006Thr missense ADAMTS12 1 82910 1.20613E-5 41455 0 NA
5-33576874-C-T p.Ser1001Asn missense ADAMTS12 1 82876 1.20662E-5 41438 0 NA
5-33576877-C-T p.Gly1000Glu missense ADAMTS12 1 82890 1.20642E-5 41445 0 3.98206E-6
5-33576879-A-G p.Thr999Thr synonymous ADAMTS12 1 82890 1.20642E-5 41445 0 NA
5-33576880-G-C p.Thr999Ser missense ADAMTS12 1 82880 1.20656E-5 41440 0 NA
5-33576892-T-C p.Tyr995Cys missense ADAMTS12 1 82862 1.20683E-5 41431 0 3.18552E-5
5-33576895-C-T p.Arg994His missense ADAMTS12 12 82834 1.44868E-4 41417 0 1.07542E-4
5-33576895-C-A p.Arg994Leu missense ADAMTS12 2 82834 2.41447E-5 41417 0 3.98305E-6
5-33576896-G-A p.Arg994Cys missense ADAMTS12 6 82834 7.2434E-5 41417 0 5.03525E-4
5-33576911-G-T p.Pro989Thr missense ADAMTS12 2 82778 2.4161E-5 41389 0 8.23927E-6
5-33576924-A-G p.Asp984Asp synonymous ADAMTS12 22 82764 2.65816E-4 41382 0 2.54907E-4
5-33576934-T-C p.Gln981Arg missense ADAMTS12 1 82742 1.20858E-5 41371 0 NA
5-33576943-C-T p.Gly978Asp missense ADAMTS12 1 82736 1.20866E-5 41368 0 1.23618E-4
5-33576946-A-G p.Leu977Pro missense ADAMTS12 1 82748 1.20849E-5 41374 0 NA
5-33576948-G-A p.Asp976Asp synonymous ADAMTS12 5 82738 6.04317E-5 41369 0 6.36902E-5
5-33576951-T-C p.Gly975Gly synonymous ADAMTS12 7 82776 8.45656E-5 41388 0 1.19527E-5
5-33576976-C-T p.Ser967Asn missense ADAMTS12 1 83024 1.20447E-5 41512 0 3.18471E-5
5-33576981-G-A p.Ser965Ser synonymous ADAMTS12 1 83064 1.20389E-5 41532 0 NA
5-33576995-GA-AT p.ThrPro960ThrSer missense ADAMTS12 1 83178 1.20224E-5 41589 0 NA
5-33576998-T-C p.Thr960Ala missense ADAMTS12 3 83202 3.60568E-5 41601 0 1.59246E-4
5-33577003-G-A p.Thr958Ile missense ADAMTS12 3 83214 3.60516E-5 41607 1 8.24416E-6
5-33577013-A-G p.Ser955Pro missense ADAMTS12 1 83254 1.20114E-5 41627 0 NA
5-33577018-G-A p.Pro953Leu missense ADAMTS12 3 83260 3.60317E-5 41630 0 6.36983E-5
5-33577024-G-A p.Thr951Ile missense ADAMTS12 2 83270 2.40183E-5 41635 0 3.58297E-5
5-33577036-A-T p.Leu947Gln missense ADAMTS12 1 83276 1.20083E-5 41638 0 NA
5-33577051-G-A p.Ser942Phe missense ADAMTS12 1 83296 1.20054E-5 41648 0 3.97962E-6
5-33577058-G-A p.Pro940Ser missense ADAMTS12 1 83298 1.20051E-5 41649 0 8.23859E-6
5-33577067-C-T p.Val937Ile missense ADAMTS12 1 83252 1.20117E-5 41626 0 5.17635E-5
5-33577068-G-A n.2743C>T splice_region ADAMTS12 36 83240 4.32484E-4 41620 0 0.00130598
5-33577075-AGTGTTG-A p.Pro932_Thr933del disruptive_inframe_deletion ADAMTS12 1 83222 1.20161E-5 41611 0 NA
5-33577086-G-T p.Asn930Lys missense ADAMTS12 4 83114 4.81267E-5 41557 0 3.18512E-5
5-33577087-T-A p.Asn930Ile missense ADAMTS12 1 83102 1.20334E-5 41551 0 NA
5-33577089-T-A p.Lys929Asn missense ADAMTS12 1 83074 1.20375E-5 41537 0 NA
5-33577096-T-C p.Asn927Ser missense ADAMTS12 272 82968 0.00327837 41484 2 0.00691215
5-33577098-G-A p.Ser926Ser synonymous ADAMTS12 3 82924 3.61777E-5 41462 0 NA
5-33577107-G-A p.Gly923Gly synonymous ADAMTS12 1 82726 1.20881E-5 41363 0 NA
5-33577131-C-G p.Arg915Arg synonymous ADAMTS12 2 82342 2.42889E-5 41171 0 3.18451E-5
5-33577132-C-T p.Arg915Gln missense ADAMTS12 246 82300 0.00298906 41150 1 0.00694533
5-33577140-A-G p.Pro912Pro synonymous ADAMTS12 4 82242 4.86369E-5 41121 0 NA
5-33577161-C-A p.Leu905Leu synonymous ADAMTS12 2 82132 2.4351E-5 41066 0 3.18451E-5
5-33577168-C-T p.Arg903Gln missense ADAMTS12 2 82064 2.43712E-5 41032 0 6.25E-4
5-33577182-C-T p.Arg898Arg synonymous ADAMTS12 1 81998 1.21954E-5 40999 0 NA
5-33577193-C-T p.Asp895Asn missense ADAMTS12 1 81902 1.22097E-5 40951 0 4.81846E-5
5-33577193-C-A p.Asp895Tyr missense ADAMTS12 6 81904 7.32565E-5 40952 0 9.55597E-5
5-33577194-G-A p.Cys894Cys synonymous ADAMTS12 5 81854 6.10844E-5 40927 0 3.1841E-5
5-33577199-G-T p.Pro893Thr missense ADAMTS12 2 81844 2.44367E-5 40922 0 6.36862E-5
5-33577203-A-G p.Asp891Asp synonymous ADAMTS12 2 81782 2.44553E-5 40891 0 5.62172E-5
5-33577205-C-G p.Asp891His missense ADAMTS12 1 81770 1.22294E-5 40885 0 6.3678E-5
5-33577214-T-A p.Lys888* stop_gained ADAMTS12 1 81578 1.22582E-5 40789 0 8.24674E-6
5-33577221-T-C p.Thr885Thr synonymous ADAMTS12 2 81446 2.45561E-5 40723 0 8.24892E-6
5-33577230-G-A p.Arg882Arg synonymous ADAMTS12 14 81130 1.72563E-4 40565 0 NA
5-33577231-C-T p.Arg882His missense ADAMTS12 2 81082 2.46664E-5 40541 0 6.37064E-5
5-33577232-G-A p.Arg882Cys missense ADAMTS12 1 81084 1.23329E-5 40542 0 9.55292E-5
5-33577237-C-T p.Arg880Gln missense ADAMTS12 2 81008 2.46889E-5 40504 0 2.00915E-5
5-33577238-G-A p.Arg880Trp missense ADAMTS12 1 80874 1.23649E-5 40437 0 8.03749E-6
5-33577256-A-G p.Ser874Pro missense ADAMTS12 2 80566 2.48244E-5 40283 0 NA
5-33577262-A-T p.Ser872Thr missense ADAMTS12 1 80454 1.24295E-5 40227 0 NA
5-33577266-C-G c.2611-1G>C splice_acceptor ADAMTS12 1 80318 1.24505E-5 40159 0 NA
5-33577272-G-A c.2611-7C>T splice_region ADAMTS12 1 80058 1.24909E-5 40029 0 NA
5-33588697-A-C c.2610+7T>G splice_region ADAMTS12 3 82310 3.64476E-5 41155 0 6.25E-4
5-33588707-A-T p.Ser869Arg missense ADAMTS12 1 82494 1.21221E-5 41247 0 NA
5-33588707-A-G p.Ser869Ser synonymous ADAMTS12 1 82494 1.21221E-5 41247 0 NA
5-33588709-T-G p.Ser869Arg missense ADAMTS12 1 82494 1.21221E-5 41247 0 3.18735E-5
5-33588725-C-A p.Trp863Cys missense ADAMTS12 1 82626 1.21027E-5 41313 0 NA
5-33588736-G-A p.Pro860Ser missense ADAMTS12 1 82682 1.20945E-5 41341 0 NA
5-33588737-G-A p.Cys859Cys synonymous ADAMTS12 2 82698 2.41844E-5 41349 0 NA
5-33588738-C-T p.Cys859Tyr missense ADAMTS12 2 82666 2.41937E-5 41333 0 5.17133E-5
5-33588740-CAG-C p.Leu858fs frameshift ADAMTS12 3 82690 3.62801E-5 41345 0 NA
5-33588755-G-T p.Cys853* stop_gained ADAMTS12 1 82726 1.20881E-5 41363 0 NA
5-33588763-G-C p.Leu851Val missense ADAMTS12 1 82718 1.20893E-5 41359 0 NA
5-33588767-G-A p.Thr849Thr synonymous ADAMTS12 2 82694 2.41856E-5 41347 0 8.23818E-6
5-33588769-T-G p.Thr849Pro missense ADAMTS12 1 82666 1.20969E-5 41333 0 NA
5-33588776-C-T p.Lys846Lys synonymous ADAMTS12 1 82684 1.20942E-5 41342 0 NA
5-33588802-G-A p.Pro838Ser missense ADAMTS12 1 82408 1.21347E-5 41204 0 NA
5-33588803-C-T p.Pro837Pro synonymous ADAMTS12 1 82360 1.21418E-5 41180 0 NA
5-33588804-G-A p.Pro837Leu missense ADAMTS12 1 82378 1.21392E-5 41189 0 8.23968E-6
5-33588829-T-C p.Met829Val missense ADAMTS12 14 82170 1.70378E-4 41085 0 1.64818E-5
5-33588836-G-T p.Ile826Ile synonymous ADAMTS12 1 82194 1.21663E-5 41097 0 8.24212E-6
5-33588847-C-A p.Val823Leu missense ADAMTS12 1 82102 1.218E-5 41051 0 NA
5-33588848-G-C p.Thr822Thr synonymous ADAMTS12 7 82040 8.53242E-5 41020 0 9.89495E-5
5-33588853-G-A p.Arg821* stop_gained ADAMTS12 1 81924 1.22064E-5 40962 0 3.98165E-6
5-33588853-G-C p.Arg821Gly missense ADAMTS12 1 81924 1.22064E-5 40962 0 NA
5-33588861-T-C p.Glu818Gly missense ADAMTS12 1 81788 1.22267E-5 40894 0 3.9826E-6
5-33588865-C-T p.Gly817Arg missense ADAMTS12 1 81702 1.22396E-5 40851 0 NA
5-33588872-C-A p.Gly814Gly synonymous ADAMTS12 5 81526 6.13301E-5 40763 0 1.65044E-5
5-33588914-C-T p.Arg800Arg splice_region+synonymous ADAMTS12 17 79760 2.13139E-4 39880 0 5.09619E-4
5-33588918-CA-C c.2400-5delT splice_region ADAMTS12 1 79474 1.25827E-5 39737 0 8.33458E-6
5-33596045-G-A p.Pro798Leu missense ADAMTS12 16 83312 1.92049E-4 41656 0 0.003125
5-33596046-G-A p.Pro798Ser missense ADAMTS12 4 83314 4.80111E-5 41657 0 3.18451E-5
5-33596059-A-G p.His793His synonymous ADAMTS12 1 83336 1.19996E-5 41668 0 NA
5-33596065-C-T p.Lys791Lys synonymous ADAMTS12 1 83328 1.20008E-5 41664 0 3.97772E-6
5-33596079-C-T p.Gly787Arg missense ADAMTS12 2 83316 2.4005E-5 41658 0 NA
5-33596081-T-C p.Asn786Ser missense ADAMTS12 1 83316 1.20025E-5 41658 0 1.19319E-5
5-33596097-G-A p.Pro781Ser missense ADAMTS12 1 83318 1.20022E-5 41659 0 NA
5-33596099-T-C p.Asp780Gly missense ADAMTS12 3 83316 3.60075E-5 41658 0 8.23818E-6
5-33596112-C-A p.Ala776Ser missense ADAMTS12 1 83316 1.20025E-5 41658 0 NA
5-33596112-C-T p.Ala776Thr missense ADAMTS12 1 83316 1.20025E-5 41658 0 NA
5-33596122-C-T p.Gly772Gly synonymous ADAMTS12 3 83312 3.60092E-5 41656 0 8.23818E-6
5-33596124-C-T p.Gly772Arg missense ADAMTS12 3 83306 3.60118E-5 41653 0 9.55779E-5
5-33596125-G-A p.Arg771Arg synonymous ADAMTS12 7 83294 8.40397E-5 41647 0 1.64764E-4
5-33596126-C-T p.Arg771His missense ADAMTS12 131 83286 0.00157289 41643 1 0.00420677
5-33596127-G-A p.Arg771Cys missense ADAMTS12 6 83290 7.20375E-5 41645 0 1.27535E-4
5-33596127-G-C p.Arg771Gly missense ADAMTS12 1 83290 1.20062E-5 41645 0 2.66527E-4
5-33596130-CCTT-C p.Lys769del conservative_inframe_deletion ADAMTS12 3 83290 3.60187E-5 41645 0 1.64769E-5
5-33596134-C-A p.Lys768Asn missense ADAMTS12 2 83292 2.40119E-5 41646 0 5.56966E-5
5-33596143-A-G p.His765His synonymous ADAMTS12 3 83270 3.60274E-5 41635 0 3.97909E-6
5-33596147-G-A p.Ala764Val missense ADAMTS12 1 83248 1.20123E-5 41624 0 8.24253E-6
5-33596153-T-G p.Gln762Pro missense ADAMTS12 1 83240 1.20135E-5 41620 0 NA
5-33596156-C-T p.Arg761His missense ADAMTS12 1 83220 1.20163E-5 41610 0 1.64943E-5
5-33596157-G-A p.Arg761Cys missense ADAMTS12 1 83216 1.20169E-5 41608 0 3.98137E-6
5-33596159-C-T p.Arg760His missense ADAMTS12 3 83208 3.60542E-5 41604 0 4.38062E-5
5-33596159-C-A p.Arg760Leu missense ADAMTS12 1 83208 1.20181E-5 41604 0 NA
5-33596160-G-A p.Arg760Cys missense ADAMTS12 3 83210 3.60534E-5 41605 0 3.18735E-5
5-33596160-G-C p.Arg760Gly missense ADAMTS12 1 83212 1.20175E-5 41606 0 NA
5-33596167-TG-T c.2273-3delC splice_region ADAMTS12 1 83186 1.20213E-5 41593 0 NA
5-33596172-G-A c.2273-7C>T splice_region ADAMTS12 1 83116 1.20314E-5 41558 0 2.47713E-5
5-33614350-G-A p.Cys755Cys synonymous ADAMTS12 2 82528 2.42342E-5 41264 0 6.37349E-5
5-33614357-A-G p.Val753Ala missense ADAMTS12 1 82576 1.21101E-5 41288 0 8.42701E-6
5-33614370-T-C p.Thr749Ala missense ADAMTS12 1 82588 1.21083E-5 41294 0 NA
5-33614379-C-T p.Gly746Ser missense ADAMTS12 3 82614 3.63135E-5 41307 0 5.58334E-5
5-33614380-G-A p.Tyr745Tyr synonymous ADAMTS12 3 82610 3.63152E-5 41305 0 9.56084E-5
5-33614385-G-A p.Gln744* stop_gained ADAMTS12 1 82648 1.20995E-5 41324 0 NA
5-33614395-C-T p.Met740Ile missense ADAMTS12 1 82666 1.20969E-5 41333 0 NA
5-33614398-CT-GG p.Gln739Pro missense ADAMTS12 1 82668 1.20966E-5 41334 0 NA
5-33614402-T-G p.Gln738Pro missense ADAMTS12 1 82654 1.20986E-5 41327 0 NA
5-33614419-A-C p.Leu732Leu synonymous ADAMTS12 2 82646 2.41996E-5 41323 0 3.9847E-6
5-33614434-G-C p.Ile727Met missense ADAMTS12 1 82616 1.21042E-5 41308 0 NA
5-33614439-T-G p.Thr726Pro missense ADAMTS12 1 82590 1.2108E-5 41295 0 NA
5-33614467-C-A p.Val716Val synonymous ADAMTS12 1548 82248 0.0188211 41124 28 0.0302115
5-33614476-T-C p.Leu713Leu synonymous ADAMTS12 1 82242 1.21592E-5 41121 0 8.26542E-6
5-33614484-A-G c.2134-3T>C splice_region ADAMTS12 1 82036 1.21898E-5 41018 0 3.1837E-5
5-33615939-C-T p.Trp709* stop_gained ADAMTS12 3 82800 3.62319E-5 41400 0 NA
5-33615943-A-G p.Val708Ala missense ADAMTS12 2 82814 2.41505E-5 41407 0 3.98384E-6
5-33615945-A-C p.Ser707Ser synonymous ADAMTS12 1 82830 1.20729E-5 41415 0 8.24022E-6
5-33615955-G-A p.Thr704Ile missense ADAMTS12 4 82850 4.828E-5 41425 0 1.59256E-4
5-33615984-G-A p.Asp694Asp synonymous ADAMTS12 24 82896 2.89519E-4 41448 0 6.37308E-4
5-33615991-T-C p.Lys692Arg missense ADAMTS12 2 82948 2.41115E-5 41474 0 1.64769E-5
5-33615995-T-C p.Arg691Gly missense ADAMTS12 1 82952 1.20552E-5 41476 0 NA
5-33616017-T-C p.Ala683Ala synonymous ADAMTS12 1 82998 1.20485E-5 41499 0 NA
5-33616027-T-C p.Tyr680Cys missense ADAMTS12 1 83028 1.20441E-5 41514 0 NA
5-33616035-G-A p.Asn677Asn synonymous ADAMTS12 5 83054 6.02018E-5 41527 0 9.56328E-5
5-33616053-C-A p.Gly671Gly synonymous ADAMTS12 1 83098 1.2034E-5 41549 0 8.23805E-6
5-33616097-C-T p.Ala657Thr missense ADAMTS12 1 83038 1.20427E-5 41519 0 NA
5-33616101-G-A p.Phe655Phe synonymous ADAMTS12 2 83016 2.40917E-5 41508 0 0.001875
5-33616115-C-G p.Gly651Arg missense ADAMTS12 1 82938 1.20572E-5 41469 0 NA
5-33616122-T-C p.Glu648Glu synonymous ADAMTS12 8 82854 9.65554E-5 41427 0 3.18451E-5
5-33616132-C-T p.Arg645Lys missense ADAMTS12 1 82752 1.20843E-5 41376 0 NA
5-33616160-GC-G p.Leu636fs frameshift ADAMTS12 6 82258 7.29412E-5 41129 0 4.39353E-5
5-33616161-C-T p.Gly635Gly synonymous ADAMTS12 11 82242 1.33752E-4 41121 0 4.1396E-4
5-33616162-C-G p.Gly635Ala missense ADAMTS12 1 82196 1.2166E-5 41098 0 2.48967E-5
5-33624351-G-T p.Gln710Lys missense ADAMTS12 1 82072 1.21844E-5 41036 0 NA
5-33624359-A-G p.Met707Thr missense ADAMTS12 2 82226 2.43232E-5 41113 0 8.26788E-6
5-33624365-C-T p.Arg705Lys missense ADAMTS12 186 82304 0.00225991 41152 3 0.00493568
5-33624374-T-C p.Gln702Arg missense ADAMTS12 3 82378 3.64175E-5 41189 0 8.25369E-6
5-33624376-G-A p.Cys701Cys synonymous ADAMTS12 1 82374 1.21398E-5 41187 0 NA
5-33624398-C-A p.Cys694Phe missense ADAMTS12 3 82480 3.63725E-5 41240 0 NA
5-33624405-C-T p.Gly692Ser missense ADAMTS12 1 82484 1.21236E-5 41242 0 3.18492E-5
5-33624406-G-A p.Cys691Cys synonymous ADAMTS12 6 82490 7.27361E-5 41245 0 0.00151057
5-33624410-C-T p.Arg690His missense ADAMTS12 4 82494 4.84884E-5 41247 0 3.3E-5
5-33624411-G-A p.Arg690Cys missense ADAMTS12 2 82522 2.4236E-5 41261 0 2.39213E-5
5-33624425-T-C p.Asn685Ser missense ADAMTS12 1 82492 1.21224E-5 41246 0 NA
5-33624430-A-G p.Asp683Asp synonymous ADAMTS12 7299 82292 0.0886964 41146 404 0.109489
5-33624432-C-T p.Asp683Asn missense ADAMTS12 2 82474 2.42501E-5 41237 0 4.95327E-5
5-33624433-G-A p.Ile682Ile synonymous ADAMTS12 1 82480 1.21242E-5 41240 0 3.18492E-5
5-33624433-G-C p.Ile682Met missense ADAMTS12 1 82480 1.21242E-5 41240 0 NA
5-33624453-C-T p.Val676Ile missense ADAMTS12 1 82382 1.21386E-5 41191 0 3.98963E-6
5-33624462-G-C n.1703-6C>G splice_region ADAMTS12 2 82268 2.43108E-5 41134 0 NA
5-33630877-C-T n.1702+8G>A splice_region ADAMTS12 5 82186 6.08376E-5 41093 0 6.25E-4
5-33630878-C-T n.1702+7G>A splice_region ADAMTS12 6 82192 7.29998E-5 41096 0 3.7203E-4
5-33630896-C-A p.Gly671Cys missense ADAMTS12 1 82366 1.21409E-5 41183 0 1.19688E-5
5-33630901-A-G p.Ile669Thr missense ADAMTS12 1 82406 1.2135E-5 41203 0 NA
5-33630924-G-A p.Gly661Gly synonymous ADAMTS12 1 82478 1.21244E-5 41239 0 2.79118E-5
5-33630924-G-T p.Gly661Gly synonymous ADAMTS12 1 82478 1.21244E-5 41239 0 NA
5-33630940-G-T p.Thr656Asn missense ADAMTS12 1 82578 1.21098E-5 41289 0 NA
5-33630954-A-G p.Ala651Ala synonymous ADAMTS12 1 82624 1.2103E-5 41312 0 NA
5-33630959-C-T p.Asp650Asn missense ADAMTS12 1 82626 1.21027E-5 41313 0 NA
5-33630966-T-C p.Lys647Lys synonymous ADAMTS12 1 82600 1.21065E-5 41300 0 NA
5-33630982-C-T p.Gly642Asp missense ADAMTS12 1 82610 1.21051E-5 41305 0 1.64987E-5
5-33630990-G-T p.Pro639Pro synonymous ADAMTS12 3 82572 3.63319E-5 41286 0 NA
5-33630994-C-T p.Arg638Gln missense ADAMTS12 4 82510 4.8479E-5 41255 0 5.58067E-5
5-33630995-G-A p.Arg638* stop_gained ADAMTS12 2 82548 2.42283E-5 41274 0 1.59443E-5
5-33631002-G-C p.Leu635Leu synonymous ADAMTS12 1 82576 1.21101E-5 41288 0 NA
5-33631009-C-T p.Cys633Tyr missense ADAMTS12 1 82572 1.21106E-5 41286 0 NA
5-33631015-T-A p.His631Leu missense ADAMTS12 1 82536 1.21159E-5 41268 0 8.2545E-6
5-33631016-G-A p.His631Tyr missense+splice_region ADAMTS12 1 82526 1.21174E-5 41263 0 NA
5-33631022-A-C n.1569-4T>G splice_region ADAMTS12 2 82452 2.42565E-5 41226 0 3.99457E-6
5-33631026-G-A n.1569-8C>T splice_region ADAMTS12 1 82436 1.21306E-5 41218 0 NA
5-33637677-C-T c.1888+5G>A splice_region ADAMTS12 2 83042 2.40842E-5 41521 0 8.32307E-6
5-33637681-C-T c.1888+1G>A splice_donor ADAMTS12 1 83074 1.20375E-5 41537 0 NA
5-33637688-T-TA p.Asn628fs frameshift ADAMTS12 1 83098 1.2034E-5 41549 0 NA
5-33637703-A-G p.Trp623Arg missense ADAMTS12 1 83136 1.20285E-5 41568 0 NA
5-33637724-A-C p.Tyr616Asp missense ADAMTS12 1 83194 1.20201E-5 41597 0 NA
5-33637730-C-T p.Val614Ile missense ADAMTS12 1 83206 1.20184E-5 41603 0 1.99091E-5
5-33637735-T-C p.Asp612Gly missense ADAMTS12 2 83220 2.40327E-5 41610 0 1.64902E-5
5-33637736-C-T p.Asp612Asn missense ADAMTS12 1 83220 1.20163E-5 41610 0 NA
5-33637752-C-T p.Met606Ile missense ADAMTS12 1 83228 1.20152E-5 41614 0 3.1839E-5
5-33637755-C-T p.Gln605Gln synonymous ADAMTS12 2 83224 2.40315E-5 41612 0 3.98089E-6
5-33637759-C-T p.Arg604Gln missense ADAMTS12 5 83214 6.0086E-5 41607 0 0.00100705
5-33637767-T-C p.Pro601Pro synonymous ADAMTS12 1 83236 1.2014E-5 41618 0 3.98061E-6
5-33637772-C-T p.Ala600Thr missense ADAMTS12 1 83224 1.20158E-5 41612 0 3.98156E-6
5-33637780-C-T p.Arg597His missense ADAMTS12 1 83216 1.20169E-5 41608 0 7.96286E-6
5-33637781-G-A p.Arg597Cys missense ADAMTS12 1 83218 1.20166E-5 41609 0 8.24946E-6
5-33637786-G-C p.Pro595Arg missense ADAMTS12 1 83226 1.20155E-5 41613 0 8.24933E-6
5-33637792-A-T p.Val593Asp missense ADAMTS12 1 83220 1.20163E-5 41610 0 NA
5-33637804-C-T p.Arg589His missense ADAMTS12 2 83210 2.40356E-5 41605 0 5.03525E-4
5-33637805-G-A p.Arg589Cys missense ADAMTS12 2 83200 2.40385E-5 41600 0 2.39021E-5
5-33637810-C-T p.Arg587His missense ADAMTS12 1 83184 1.20215E-5 41592 0 0.00125
5-33637811-G-A p.Arg587Cys missense ADAMTS12 1 83186 1.20213E-5 41593 0 1.59427E-5
5-33637814-T-C p.Lys586Glu missense ADAMTS12 1 83180 1.20221E-5 41590 0 3.18471E-5
5-33637815-T-C p.Arg585Arg synonymous ADAMTS12 1 83182 1.20218E-5 41591 0 NA
5-33637817-T-C p.Arg585Gly missense ADAMTS12 3 83188 3.60629E-5 41594 0 1.65191E-5
5-33637822-C-G p.Gly583Ala missense ADAMTS12 1 83176 1.20227E-5 41588 0 6.36902E-5
5-33637838-C-T p.Gly578Arg missense ADAMTS12 2 83170 2.40471E-5 41585 0 3.99958E-5
5-33637847-T-C p.Lys575Glu missense ADAMTS12 2 83116 2.40628E-5 41558 0 NA
5-33641912-C-T c.1718+3G>A splice_region ADAMTS12 9 81590 1.10308E-4 40795 0 9.56084E-5
5-33641916-C-T p.Glu573Lys missense+splice_region ADAMTS12 1 81676 1.22435E-5 40838 0 2.23086E-4
5-33641917-G-A p.Pro572Pro splice_region+synonymous ADAMTS12 1 81700 1.22399E-5 40850 0 8.35254E-6
5-33641938-T-C p.Ala565Ala synonymous ADAMTS12 1 82098 1.21806E-5 41049 0 NA
5-33641940-C-T p.Ala565Thr missense ADAMTS12 1 82072 1.21844E-5 41036 0 9.56023E-5
5-33641941-G-A p.Ser564Ser synonymous ADAMTS12 1 82080 1.21832E-5 41040 0 3.18654E-5
5-33641956-C-T p.Gly559Gly synonymous ADAMTS12 1 82210 1.2164E-5 41105 0 3.99272E-6
5-33641962-G-A p.Thr557Thr synonymous ADAMTS12 2 82240 2.43191E-5 41120 0 0.001875
5-33641963-G-A p.Thr557Ile missense ADAMTS12 1 82242 1.21592E-5 41121 0 NA
5-33641993-C-T p.Arg547His missense ADAMTS12 4 82218 4.86511E-5 41109 0 3.19157E-5
5-33641994-G-A p.Arg547Cys missense ADAMTS12 2 82244 2.43179E-5 41122 0 9.09572E-5
5-33642014-C-G p.Ser540Thr missense ADAMTS12 1 82330 1.21462E-5 41165 0 NA
5-33642025-C-T p.Lys536Lys synonymous ADAMTS12 3 82314 3.64458E-5 41157 0 3.18431E-5
5-33642029-C-T p.Gly535Glu missense ADAMTS12 2 82314 2.42972E-5 41157 0 1.66226E-5
5-33642034-T-C p.Thr533Thr synonymous ADAMTS12 1 82290 1.21521E-5 41145 0 NA
5-33642056-C-A p.Cys526Phe missense ADAMTS12 1 82074 1.21841E-5 41037 0 NA
5-33642058-C-T p.Trp525* stop_gained ADAMTS12 1 82022 1.21919E-5 41011 0 NA
5-33642068-G-A c.1573-8C>T splice_region ADAMTS12 5 81882 6.10635E-5 40941 0 0.00125
5-33643476-G-A c.1572+7C>T splice_region ADAMTS12 34 83024 4.0952E-4 41512 0 9.87261E-4
5-33643496-C-T p.Cys520Tyr missense ADAMTS12 2 83112 2.40639E-5 41556 0 8.23696E-6
5-33643508-T-C p.Asp516Gly missense ADAMTS12 1 83160 1.2025E-5 41580 0 1.64739E-5
5-33643514-G-C p.Ala514Gly missense ADAMTS12 1 83174 1.2023E-5 41587 0 NA
5-33643519-G-A p.Asp512Asp synonymous ADAMTS12 3 83174 3.6069E-5 41587 0 3.1841E-5
5-33643532-C-T p.Arg508His missense ADAMTS12 15 83168 1.80358E-4 41584 0 5.03525E-4
5-33643533-G-A p.Arg508Cys missense ADAMTS12 27 83166 3.24652E-4 41583 0 6.25E-4
5-33643533-G-C p.Arg508Gly missense ADAMTS12 1 83168 1.20239E-5 41584 0 3.98029E-6
5-33643536-A-C p.Cys507Gly missense ADAMTS12 1 83180 1.20221E-5 41590 0 3.97991E-6
5-33643548-C-T p.Val503Met missense ADAMTS12 4 83170 4.80943E-5 41585 0 6.36867E-5
5-33643549-G-A p.Ser502Ser synonymous ADAMTS12 1 83168 1.20239E-5 41584 0 6.36983E-5
5-33643559-A-T p.Leu499Gln missense ADAMTS12 226 83170 0.00271733 41585 0 0.00289846
5-33643559-A-G p.Leu499Pro missense ADAMTS12 1 83174 1.2023E-5 41587 0 4.1197E-5
5-33643560-G-A p.Leu499Leu synonymous ADAMTS12 1802 83138 0.0216748 41569 96 0.0467456
5-33643572-C-T p.Val495Ile missense ADAMTS12 4 83142 4.81105E-5 41571 0 1.40128E-4
5-33643573-G-A p.Asn494Asn splice_region+synonymous ADAMTS12 3 83148 3.60802E-5 41574 0 6.25E-4
5-33643573-G-T p.Asn494Lys missense+splice_region ADAMTS12 2 83148 2.40535E-5 41574 0 8.24429E-6
5-33648919-A-T c.1479+8T>A splice_region ADAMTS12 1 82988 1.20499E-5 41494 0 NA
5-33648930-T-A p.Val492Val synonymous ADAMTS12 1 83054 1.20404E-5 41527 0 1.64815E-5
5-33648935-C-T p.Glu491Lys missense ADAMTS12 3 83074 3.61124E-5 41537 0 3.29609E-5
5-33648944-A-G p.Phe488Leu missense ADAMTS12 1 83096 1.20343E-5 41548 0 NA
5-33648952-T-C p.Asn485Ser missense ADAMTS12 2 83118 2.40622E-5 41559 0 3.98089E-6
5-33648961-T-C p.Tyr482Cys missense ADAMTS12 1 83110 1.20322E-5 41555 0 8.24022E-6
5-33648978-G-A p.His476His synonymous ADAMTS12 1 83136 1.20285E-5 41568 0 1.99022E-5
5-33648991-T-C p.Tyr472Cys missense ADAMTS12 1 83146 1.2027E-5 41573 0 2.38804E-5
5-33648996-C-T p.Val470Val synonymous ADAMTS12 1 83148 1.20267E-5 41574 0 NA
5-33649001-C-T p.Gly469Arg missense ADAMTS12 1 83150 1.20265E-5 41575 0 5.03525E-4
5-33649002-G-A p.Pro468Pro synonymous ADAMTS12 2 83160 2.405E-5 41580 0 5.03525E-4
5-33649034-T-C p.Lys458Glu missense ADAMTS12 2 83172 2.40466E-5 41586 0 NA
5-33649040-G-T p.Pro456Thr missense ADAMTS12 1 83154 1.20259E-5 41577 0 NA
5-33649058-A-T p.Phe450Ile missense ADAMTS12 1 83128 1.20296E-5 41564 0 NA
5-33649059-C-A p.Gly449Gly synonymous ADAMTS12 5 83124 6.01511E-5 41562 0 1.19591E-4
5-33649060-C-G p.Gly449Ala missense ADAMTS12 2 83126 2.40599E-5 41563 0 8.25559E-6
5-33649060-C-T p.Gly449Glu missense ADAMTS12 1 83126 1.20299E-5 41563 0 NA
5-33649065-G-A p.Gly447Gly synonymous ADAMTS12 2 83108 2.40651E-5 41554 0 1.19638E-5
5-33649069-C-T p.Arg446Gln missense+splice_region ADAMTS12 13 83100 1.56438E-4 41550 0 0.00125
5-33649070-G-A p.Arg446* stop_gained ADAMTS12 1 83084 1.2036E-5 41542 0 3.18593E-5
5-33649079-C-G c.1335-8G>C splice_region ADAMTS12 1 83042 1.20421E-5 41521 0 1.99748E-5
5-33649656-T-C c.1334+3A>G splice_region ADAMTS12 1 82290 1.21521E-5 41145 0 3.18512E-5
5-33649657-A-C c.1334+2T>G splice_donor ADAMTS12 1 82326 1.21468E-5 41163 0 NA
5-33649664-G-A p.Phe443Phe synonymous ADAMTS12 1 82504 1.21206E-5 41252 0 3.99607E-6
5-33649668-C-T p.Arg442His missense ADAMTS12 1 82560 1.21124E-5 41280 0 3.18613E-5
5-33649669-G-A p.Arg442Cys missense ADAMTS12 1 82602 1.21062E-5 41301 0 1.65166E-5
5-33649671-G-A p.Thr441Ile missense ADAMTS12 5 82646 6.0499E-5 41323 0 3.30262E-5
5-33649671-G-T p.Thr441Asn missense ADAMTS12 1 82646 1.20998E-5 41323 0 NA
5-33649672-T-A p.Thr441Ser missense ADAMTS12 1 82646 1.20998E-5 41323 0 NA
5-33649673-G-A p.Ile440Ile synonymous ADAMTS12 21 82682 2.53985E-4 41341 0 2.22944E-4
5-33649676-G-A p.Tyr439Tyr synonymous ADAMTS12 2 82710 2.41809E-5 41355 0 8.25478E-6
5-33649678-A-C p.Tyr439Asp missense ADAMTS12 1 82730 1.20875E-5 41365 0 1.27494E-4
5-33649679-C-T p.Glu438Glu synonymous ADAMTS12 1 82732 1.20872E-5 41366 0 NA
5-33649684-C-T p.Glu437Lys missense ADAMTS12 8 82742 9.66861E-5 41371 0 3.59018E-5
5-33649685-G-A p.Ser436Ser synonymous ADAMTS12 2 82750 2.41692E-5 41375 0 8.25096E-6
5-33649691-CTTGG-C p.Ser433fs frameshift ADAMTS12 1 82800 1.20773E-5 41400 0 NA
5-33649696-A-ACT p.Lys434fs frameshift ADAMTS12 1 82828 1.20732E-5 41414 0 NA
5-33649698-CATG-C p.Thr431_Trp432delinsArg disruptive_inframe_deletion ADAMTS12 1 82836 1.2072E-5 41418 0 NA
5-33649700-T-C p.Thr431Thr synonymous ADAMTS12 1 82842 1.20712E-5 41421 0 NA
5-33649703-C-T p.Leu430Leu synonymous ADAMTS12 14 82842 1.68996E-4 41421 0 6.68875E-4
5-33649707-G-A p.Pro429Leu missense ADAMTS12 4 82852 4.82789E-5 41426 0 NA
5-33649717-C-T p.Asp426Asn missense ADAMTS12 7 82842 8.44982E-5 41421 0 9.55292E-5
5-33649718-G-A p.Tyr425Tyr synonymous ADAMTS12 1 82848 1.20703E-5 41424 0 5.77082E-5
5-33649728-T-C p.Gln422Arg missense ADAMTS12 2 82834 2.41447E-5 41417 0 5.05051E-4
5-33649731-C-T p.Arg421His missense ADAMTS12 3 82818 3.6224E-5 41409 0 1.07163E-4
5-33649739-G-A p.Ile418Ile synonymous ADAMTS12 2 82828 2.41464E-5 41414 0 1.59351E-5
5-33649741-T-C p.Ile418Val missense ADAMTS12 1 82814 1.20753E-5 41407 0 NA
5-33649745-C-T p.Pro416Pro synonymous ADAMTS12 1 82800 1.20773E-5 41400 0 6.25E-4
5-33649746-G-A p.Pro416Leu missense ADAMTS12 1 82798 1.20776E-5 41399 0 1.99222E-5
5-33649765-C-G p.Glu410Gln missense ADAMTS12 1 82768 1.2082E-5 41384 0 NA
5-33649783-C-G p.Gly404Arg missense ADAMTS12 3 82684 3.62827E-5 41342 0 1.64932E-5
5-33649784-A-G p.Asp403Asp synonymous ADAMTS12 2 82668 2.41932E-5 41334 0 8.24688E-6
5-33649787-A-G p.His402His synonymous ADAMTS12 1 82634 1.21016E-5 41317 0 NA
5-33649799-G-A p.Phe398Phe synonymous ADAMTS12 2 82488 2.4246E-5 41244 0 6.36983E-5
5-33649799-G-T p.Phe398Leu missense ADAMTS12 1 82488 1.2123E-5 41244 0 NA
5-33649807-C-A c.1191-5G>T splice_region ADAMTS12 45714 78474 0.582537 39237 13294 0.603125
5-33658287-A-G c.1190+2T>C splice_donor ADAMTS12 3 82850 3.621E-5 41425 0 NA
5-33658303-A-C p.His392Gln missense ADAMTS12 2 82898 2.4126E-5 41449 0 NA
5-33658326-G-A p.Pro385Ser missense ADAMTS12 12 82952 1.44662E-4 41476 0 1.40162E-4
5-33658328-A-G p.Leu384Pro missense ADAMTS12 5 82934 6.02889E-5 41467 0 3.18695E-5
5-33658329-G-A p.Leu384Phe missense ADAMTS12 1 82936 1.20575E-5 41468 0 NA
5-33658333-C-T p.Ser382Ser synonymous ADAMTS12 167 82930 0.00201375 41465 1 0.00344081
5-33658334-G-A p.Ser382Leu missense ADAMTS12 1 82944 1.20563E-5 41472 0 0.00100806
5-33658343-T-C p.Asn379Ser missense ADAMTS12 2 82928 2.41173E-5 41464 0 NA
5-33658347-T-C p.Ile378Val missense ADAMTS12 4 82932 4.82323E-5 41466 0 1.5935E-5
5-33658357-G-T p.Arg374Arg synonymous ADAMTS12 3 82894 3.61908E-5 41447 0 4.12181E-5
5-33658363-A-C p.Pro372Pro synonymous ADAMTS12 2 82872 2.41336E-5 41436 0 8.24294E-6
5-33658380-A-C p.Ser367Ala missense ADAMTS12 1 82798 1.20776E-5 41399 0 NA
5-33658384-G-C p.His365Gln missense ADAMTS12 2 82776 2.41616E-5 41388 0 NA
5-33658404-C-T p.Glu359Lys missense ADAMTS12 1 82654 1.20986E-5 41327 0 9.55353E-5
5-33658405-G-A p.Cys358Cys synonymous ADAMTS12 3 82626 3.63082E-5 41313 0 7.97353E-6
5-33658412-C-T p.Arg356His missense ADAMTS12 5 82544 6.05738E-5 41272 0 1.27421E-4
5-33658413-G-T p.Arg356Ser missense ADAMTS12 1 82538 1.21156E-5 41269 0 8.24389E-6
5-33658417-G-A p.Phe354Phe synonymous ADAMTS12 1 82506 1.21203E-5 41253 0 NA
5-33658418-A-T p.Phe354Tyr missense ADAMTS12 1 82506 1.21203E-5 41253 0 NA
5-33658426-A-G p.Cys351Cys synonymous ADAMTS12 2 82428 2.42636E-5 41214 0 8.24647E-6
5-33662015-G-A c.1040+6C>T splice_region ADAMTS12 1 82708 1.20907E-5 41354 0 7.9832E-6
5-33662022-T-G p.Arg347Arg splice_region+synonymous ADAMTS12 1 82730 1.20875E-5 41365 0 3.99036E-6
5-33662036-G-A p.Ala342Val missense ADAMTS12 1 82772 1.20814E-5 41386 0 NA
5-33662040-C-T p.Val341Met missense ADAMTS12 1 82760 1.20831E-5 41380 0 5.13875E-4
5-33662041-G-A p.Asp340Asp synonymous ADAMTS12 2 82762 2.41657E-5 41381 0 5.13875E-4
5-33662044-G-A p.His339His synonymous ADAMTS12 68 82776 8.21494E-4 41388 0 0.00614754
5-33662051-A-G p.Val337Ala missense ADAMTS12 1 82772 1.20814E-5 41386 0 NA
5-33662077-G-T p.Ile328Ile synonymous ADAMTS12 2 82722 2.41774E-5 41361 0 NA
5-33662078-A-AAGGC p.Ile328fs frameshift ADAMTS12 2 82714 2.41797E-5 41357 1 NA
5-33662086-C-G p.Gln325His missense ADAMTS12 9 82704 1.08822E-4 41352 0 7.42366E-5
5-33662124-G-A p.His313Tyr missense ADAMTS12 1 82646 1.20998E-5 41323 0 NA
5-33683117-T-C c.915+6A>G splice_region ADAMTS12 2 83076 2.40743E-5 41538 0 8.27198E-6
5-33683125-C-T p.Glu305Lys missense+splice_region ADAMTS12 1 83118 1.20311E-5 41559 0 3.18552E-5
5-33683134-C-T p.Glu302Lys missense ADAMTS12 1 83144 1.20273E-5 41572 0 9.55718E-5
5-33683134-C-G p.Glu302Gln missense ADAMTS12 4 83144 4.81093E-5 41572 0 3.18573E-5
5-33683135-G-A p.Leu301Leu synonymous ADAMTS12 3 83148 3.60802E-5 41574 0 1.60213E-5
5-33683144-G-A p.Leu298Leu synonymous ADAMTS12 1 83204 1.20187E-5 41602 0 NA
5-33683146-G-A p.Leu298Phe missense ADAMTS12 33 83196 3.96654E-4 41598 0 0.00242023
5-33683148-C-T p.Arg297Gln missense ADAMTS12 6 83192 7.21223E-5 41596 0 1.1991E-5
5-33683149-G-A p.Arg297Trp missense ADAMTS12 2 83198 2.4039E-5 41599 0 6.36983E-5
5-33683167-T-C p.Ile291Val missense ADAMTS12 2 83184 2.40431E-5 41592 0 1.6509E-5
5-33683176-C-G p.Gly288Arg missense ADAMTS12 1 83176 1.20227E-5 41588 0 3.18634E-5
5-33683179-T-C p.Ile287Val missense ADAMTS12 2 83178 2.40448E-5 41589 0 8.26474E-6
5-33683190-T-C p.His283Arg missense ADAMTS12 2 83184 2.40431E-5 41592 0 5.80066E-5
5-33683198-C-A p.Gly280Gly synonymous ADAMTS12 1 83152 1.20262E-5 41576 0 NA
5-33683202-G-C p.Thr279Ser missense ADAMTS12 1 83128 1.20296E-5 41564 0 NA
5-33683212-G-A c.832-6C>T splice_region ADAMTS12 1 83048 1.20412E-5 41524 0 3.18613E-5
5-33683975-T-C p.Ile274Val missense ADAMTS12 1 80224 1.24651E-5 40112 0 NA
5-33683977-G-A p.Thr273Ile missense ADAMTS12 1 80418 1.2435E-5 40209 0 NA
5-33683983-A-G p.Ile271Thr missense ADAMTS12 1 81476 1.22736E-5 40738 0 8.78812E-6
5-33683984-T-C p.Ile271Val missense ADAMTS12 1 81522 1.22666E-5 40761 0 NA
5-33684005-T-C p.Ser264Gly missense ADAMTS12 1 82252 1.21578E-5 41126 0 NA
5-33684006-C-T p.Gly263Gly synonymous ADAMTS12 625 82230 0.00760063 41115 13 0.0161537
5-33684009-A-G p.His262His synonymous ADAMTS12 1 82544 1.21148E-5 41272 0 NA
5-33684017-C-G p.Glu260Gln missense ADAMTS12 1 82658 1.2098E-5 41329 0 NA
5-33684022-A-G p.Met258Thr missense ADAMTS12 4 82692 4.83723E-5 41346 0 8.34725E-6
5-33684032-C-T p.Asp255Asn missense ADAMTS12 2 82734 2.41739E-5 41367 0 3.18796E-5
5-33684033-G-A p.Ala254Ala synonymous ADAMTS12 3 82720 3.62669E-5 41360 0 6.37999E-5
5-33684040-A-C p.Val252Gly missense ADAMTS12 1 82796 1.20779E-5 41398 0 4.03858E-6
5-33684044-G-C p.Leu251Val missense ADAMTS12 2 82816 2.41499E-5 41408 0 NA
5-33684046-G-C p.Thr250Arg missense ADAMTS12 1 82824 1.20738E-5 41412 0 NA
5-33684049-T-G p.Glu249Ala missense ADAMTS12 1 82824 1.20738E-5 41412 0 NA
5-33684053-C-T p.Val248Met missense ADAMTS12 10 82860 1.20685E-4 41430 0 1.59337E-4
5-33684060-C-A p.Glu245Asp missense ADAMTS12 19 82826 2.29397E-4 41413 0 0.00553877
5-33684080-G-A p.Arg239Trp missense ADAMTS12 2 82600 2.42131E-5 41300 0 3.1904E-5
5-33684092-T-A p.Arg235* stop_gained ADAMTS12 1 82368 1.21406E-5 41184 0 1.67062E-5
5-33684103-T-C p.Asn231Ser missense ADAMTS12 3 82140 3.6523E-5 41070 0 4.03978E-6
5-33684107-G-A p.His230Tyr missense ADAMTS12 1 81920 1.2207E-5 40960 0 NA
5-33684109-CTCTCCCACT-C p.Lys226_Glu228del disruptive_inframe_deletion ADAMTS12 1 81994 1.2196E-5 40997 0 NA
5-33684112-T-C p.Glu228Gly missense ADAMTS12 1 81748 1.22327E-5 40874 0 0.0130916
5-33684120-C-T p.Glu225Glu synonymous ADAMTS12 7 81770 8.5606E-5 40885 0 5.41505E-4
5-33684124-C-T p.Arg224Gln missense ADAMTS12 2 82166 2.4341E-5 41083 0 6.25E-4
5-33684129-T-C p.Leu222Leu synonymous ADAMTS12 1 82078 1.21835E-5 41039 0 3.18451E-5
5-33684131-G-A p.Leu222Leu synonymous ADAMTS12 1 81998 1.21954E-5 40999 0 NA
5-33684137-G-T p.Gln220Lys missense ADAMTS12 2 81702 2.44792E-5 40851 0 NA
5-33684147-G-A p.Ile216Ile synonymous ADAMTS12 1 81390 1.22865E-5 40695 0 1.79905E-5
5-33684157-C-A p.Ser213Ile missense ADAMTS12 1 81002 1.23454E-5 40501 0 NA
5-33684158-T-C p.Ser213Gly missense+splice_region ADAMTS12 1 80552 1.24143E-5 40276 0 9.26801E-6
5-33751305-C-A c.*139G>T splice_region ADAMTS12 1 50348 1.98618E-5 25174 0 NA
5-33751447-A-G p.Tyr232Tyr synonymous ADAMTS12 1 82882 1.20653E-5 41441 0 NA
5-33751454-A-T p.Leu230* stop_gained ADAMTS12 38534 63978 0.602301 31989 10950 0.7275
5-33751454-A-C p.Leu230Trp missense ADAMTS12 1 82974 1.2052E-5 41487 0 3.99738E-6
5-33751494-T-C p.Met217Val missense ADAMTS12 1 83296 1.20054E-5 41648 0 1.64823E-5
5-33751499-G-A p.Thr215Ile missense ADAMTS12 1 83304 1.20042E-5 41652 0 NA
5-33751527-G-C p.Pro206Ala missense ADAMTS12 6 83348 7.19873E-5 41674 0 3.18492E-5
5-33751531-C-T p.Lys204Lys synonymous ADAMTS12 30 83356 3.59902E-4 41678 0 5.03525E-4
5-33751532-T-A p.Lys204Met missense ADAMTS12 1 83360 1.19962E-5 41680 0 NA
5-33751536-T-C p.Thr203Ala missense ADAMTS12 1 83366 1.19953E-5 41683 0 NA
5-33751540-T-G p.Pro201Pro synonymous ADAMTS12 1 83372 1.19944E-5 41686 0 4.11916E-5
5-33751545-C-T p.Val200Ile missense ADAMTS12 4 83370 4.79789E-5 41685 0 8.23845E-6
5-33751563-C-T p.Val194Ile missense ADAMTS12 1 83372 1.19944E-5 41686 0 3.18492E-5
5-33751564-G-A p.Ile193Ile synonymous ADAMTS12 1 83376 1.19939E-5 41688 0 2.47166E-5
5-33751570-C-T p.Pro191Pro synonymous ADAMTS12 1 83374 1.19941E-5 41687 0 1.64766E-5
5-33751571-G-A p.Pro191Leu missense ADAMTS12 1 83376 1.19939E-5 41688 0 1.64769E-5
5-33751577-T-C p.Tyr189Cys missense ADAMTS12 1 83382 1.1993E-5 41691 0 NA
5-33751593-G-A p.Leu184Leu synonymous ADAMTS12 1 83376 1.19939E-5 41688 0 8.23845E-6
5-33751602-T-G p.Lys181Gln missense ADAMTS12 1 83374 1.19941E-5 41687 0 NA
5-33751608-C-T p.Val179Met missense ADAMTS12 2 83378 2.39871E-5 41689 0 2.38694E-5
5-33751609-G-A p.Pro178Pro synonymous ADAMTS12 2 83374 2.39883E-5 41687 0 3.19183E-5
5-33751610-G-A p.Pro178Leu missense ADAMTS12 1 83376 1.19939E-5 41688 0 NA
5-33751626-C-G p.Asp173His missense ADAMTS12 121 83378 0.00145122 41689 1 0.0020141
5-33751652-G-A p.Thr164Ile missense+splice_region ADAMTS12 1 83354 1.1997E-5 41677 0 1.19613E-5
5-33881231-T-C p.His161Arg missense ADAMTS12 1 81576 1.22585E-5 40788 0 NA
5-33881234-C-T p.Cys160Tyr missense ADAMTS12 2 81698 2.44804E-5 40849 0 6.37592E-5
5-33881246-G-A p.Ala156Val missense ADAMTS12 2 82250 2.43161E-5 41125 0 6.67757E-5
5-33881251-C-T p.Thr154Thr synonymous ADAMTS12 1 82486 1.21233E-5 41243 0 4.99476E-5
5-33881252-G-A p.Thr154Met missense ADAMTS12 1265 82512 0.0153311 41256 41 0.103223
5-33881253-T-A p.Thr154Ser missense ADAMTS12 1 82616 1.21042E-5 41308 0 NA
5-33881259-C-T p.Val152Ile missense ADAMTS12 3 82800 3.62319E-5 41400 0 1.65906E-5
5-33881261-CTG-C p.Arg151fs frameshift ADAMTS12 1 82842 1.20712E-5 41421 0 NA
5-33881265-T-C p.Thr150Ala missense ADAMTS12 2 82884 2.41301E-5 41442 0 3.98073E-6
5-33881272-C-A p.Gln147His missense ADAMTS12 2 82972 2.41045E-5 41486 0 8.27582E-6
5-33881282-G-A p.Thr144Met missense ADAMTS12 1 83070 1.2038E-5 41535 0 1.65237E-5
5-33881288-C-T p.Ser142Asn missense ADAMTS12 5 83118 6.01554E-5 41559 0 8.25627E-6
5-33881294-T-C p.His140Arg missense ADAMTS12 2 83174 2.4046E-5 41587 0 7.95596E-6
5-33881299-G-A p.Leu138Leu synonymous ADAMTS12 134 83174 0.00161108 41587 0 0.003218
5-33881299-GA-G p.Leu138fs frameshift ADAMTS12 1 83180 1.20221E-5 41590 0 4.95041E-5
5-33881302-G-A p.Pro137Pro synonymous ADAMTS12 1 83194 1.20201E-5 41597 0 3.18674E-5
5-33881306-G-C p.Ala136Gly missense ADAMTS12 5 83216 6.00846E-5 41608 0 0.00100705
5-33881339-T-C p.Asn125Ser missense ADAMTS12 1 83314 1.20028E-5 41657 0 NA
5-33881341-C-T p.Gly124Gly synonymous ADAMTS12 6 83318 7.20133E-5 41659 0 5.03525E-4
5-33881344-A-G p.Tyr123Tyr synonymous ADAMTS12 1 83320 1.20019E-5 41660 0 1.48312E-4
5-33881361-T-C p.Ile118Val missense ADAMTS12 1 83328 1.20008E-5 41664 0 3.18532E-5
5-33881364-A-T p.Tyr117Asn missense ADAMTS12 2 83330 2.4001E-5 41665 0 NA
5-33881385-G-C p.Gln110Glu missense ADAMTS12 349 83324 0.00418847 41662 2 0.00923861
5-33881387-T-C p.Asn109Ser missense ADAMTS12 3 83320 3.60058E-5 41660 0 6.36821E-5
5-33881388-T-C p.Asn109Asp missense ADAMTS12 1 83322 1.20016E-5 41661 0 1.71016E-4
5-33881392-C-T p.Thr107Thr synonymous ADAMTS12 2 83334 2.39998E-5 41667 0 2.5481E-4
5-33881393-G-A p.Thr107Met missense ADAMTS12 5 83324 6.00067E-5 41662 0 9.55597E-5
5-33881413-C-G p.Lys100Asn missense ADAMTS12 1 83334 1.19999E-5 41667 0 NA
5-33881415-T-C p.Lys100Glu missense ADAMTS12 1 83336 1.19996E-5 41668 0 8.23723E-6
5-33881422-G-A p.His97His synonymous ADAMTS12 1 83324 1.20013E-5 41662 0 8.23737E-6
5-33881424-G-A p.His97Tyr missense ADAMTS12 6 83322 7.20098E-5 41661 0 7.41375E-5
5-33881436-A-G p.Tyr93His missense ADAMTS12 2 83318 2.40044E-5 41659 0 3.1841E-5
5-33881438-T-C p.Tyr92Cys missense ADAMTS12 1 83320 1.20019E-5 41660 0 NA
5-33881446-G-GTCC p.Glu88dup disruptive_inframe_insertion ADAMTS12 2 83322 2.40033E-5 41661 0 NA
5-33881447-T-A p.Asp89Val missense ADAMTS12 1 83316 1.20025E-5 41658 0 NA
5-33881468-C-G p.Arg82Thr missense ADAMTS12 1 83310 1.20034E-5 41655 0 NA
5-33881485-C-T p.Thr76Thr synonymous ADAMTS12 833 83254 0.0100055 41627 24 0.0216338
5-33881486-G-A p.Thr76Met missense ADAMTS12 2 83282 2.40148E-5 41641 0 1.99748E-5
5-33881493-G-A p.Pro74Ser missense ADAMTS12 1 83270 1.20091E-5 41635 0 NA
5-33881495-T-C p.Tyr73Cys missense ADAMTS12 1 83266 1.20097E-5 41633 0 7.32577E-4
5-33881498-T-C p.His72Arg missense ADAMTS12 2 83248 2.40246E-5 41624 0 5.05561E-4
5-33881507-T-C p.Tyr69Cys missense ADAMTS12 2 83198 2.4039E-5 41599 0 8.23873E-6
5-33881508-A-T p.Tyr69Asn missense ADAMTS12 5 83194 6.01005E-5 41597 0 5.06073E-4
5-33881512-C-CA p.Leu67fs frameshift ADAMTS12 1 83174 1.2023E-5 41587 0 3.19714E-5
5-33881525-C-T p.Ser63Asn missense ADAMTS12 1 83148 1.20267E-5 41574 0 8.24334E-6
5-33881538-G-A p.Arg59* stop_gained ADAMTS12 1 83040 1.20424E-5 41520 0 NA
5-33881540-A-G p.Val58Ala missense ADAMTS12 1 83032 1.20435E-5 41516 0 NA
5-33881546-C-T p.Gly56Asp missense ADAMTS12 22 82994 2.65079E-4 41497 0 6.25E-4
5-33881550-C-G p.Val55Leu missense ADAMTS12 1 82986 1.20502E-5 41493 0 NA
5-33881565-G-A p.Pro50Ser missense ADAMTS12 3 82774 3.62433E-5 41387 0 1.21181E-5
5-33881567-A-G p.Leu49Pro missense ADAMTS12 3 82738 3.6259E-5 41369 0 8.32058E-6
5-33881569-G-A p.Gly48Gly synonymous ADAMTS12 1 82710 1.20904E-5 41355 0 6.25E-4
5-33881571-C-T p.Gly48Ser missense ADAMTS12 15 82704 1.8137E-4 41352 0 4.7792E-4
5-33881574-T-C p.Lys47Glu missense ADAMTS12 1 82686 1.20939E-5 41343 0 NA
5-33881576-A-C p.Ile46Ser missense ADAMTS12 1 82610 1.21051E-5 41305 0 3.18593E-5
5-33881583-GCT-G p.Glu43fs frameshift ADAMTS12 27 82262 3.2822E-4 41131 0 2.32499E-4
5-33891849-G-T p.Pro38Gln missense ADAMTS12 2 83136 2.4057E-5 41568 0 7.96033E-6
5-33891860-C-T p.Pro34Pro synonymous ADAMTS12 2 83124 2.40604E-5 41562 0 0.00100705
5-33891861-G-A p.Pro34Leu missense ADAMTS12 4 83120 4.81232E-5 41560 0 0.00100705
5-33891863-G-A p.Gly33Gly synonymous ADAMTS12 8 83128 9.62371E-5 41564 0 8.25709E-6
5-33891864-C-A p.Gly33Val missense ADAMTS12 1 83118 1.20311E-5 41559 0 NA
5-33891873-G-T p.Pro30His missense ADAMTS12 12 83184 1.44259E-4 41592 0 4.12616E-5
5-33891874-GC-TG p.GlnPro29HisThr missense ADAMTS12 1 83180 1.20221E-5 41590 0 NA
5-33891874-GCTGT-G p.Arg28fs frameshift ADAMTS12 1 83180 1.20221E-5 41590 0 NA
5-33891877-G-C p.Gln29Glu missense ADAMTS12 2 83220 2.40327E-5 41610 0 3.18451E-5
5-33891878-T-C p.Arg28Arg synonymous ADAMTS12 1 83216 1.20169E-5 41608 0 3.97779E-6
5-33891888-C-A p.Cys25Phe missense ADAMTS12 2 83264 2.402E-5 41632 0 NA
5-33891894-G-A p.Ala23Val missense ADAMTS12 85 83284 0.0010206 41642 0 0.00563874
5-33891908-G-T p.Leu18Leu synonymous ADAMTS12 1 83332 1.20002E-5 41666 0 1.64959E-5
5-33891911-C-T p.Gln17Gln synonymous ADAMTS12 1 83334 1.19999E-5 41667 0 NA
5-33891923-G-A p.Ser13Ser synonymous ADAMTS12 1 83352 1.19973E-5 41676 0 NA
5-33891931-T-C p.Asn11Asp missense ADAMTS12 1 83342 1.19988E-5 41671 0 NA
5-33891937-G-A p.Leu9Phe missense ADAMTS12 1248 83328 0.014977 41664 19 0.0367573
5-33891960-A-G p.Met1? start_lost ADAMTS12 1 83336 1.19996E-5 41668 0 3.99888E-6
5-33891968-G-C c.-7C>G 5_prime_UTR_premature_start_codon_gain ADAMTS12 1 83330 1.20005E-5 41665 0 NA
5-33892041-G-A c.-80C>T 5_prime_UTR_premature_start_codon_gain ADAMTS12 1 80750 1.23839E-5 40375 0 NA
5-33892102-G-A c.-141C>T 5_prime_UTR_premature_start_codon_gain ADAMTS12 1 76652 1.3046E-5 38326 0 NA
5-33892109-C-A c.-148G>T 5_prime_UTR_premature_start_codon_gain ADAMTS12 1 75958 1.31652E-5 37979 0 NA
5-33892126-G-A c.-165C>T 5_prime_UTR_premature_start_codon_gain ADAMTS12 1 72646 1.37654E-5 36323 0 NA