Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-9220267-A-T p.Cys197* stop_gained A2M 3 69602 4.31022E-5 34801 0 NA
12-9220270-A-G p.His196His synonymous A2M 3 70502 4.2552E-5 35251 0 NA
12-9220307-A-G p.Met184Thr missense A2M 1 77738 1.28637E-5 38869 0 NA
12-9220310-G-GGGTTATGT p.Ser183fs frameshift A2M 1 78012 1.28185E-5 39006 0 NA
12-9220339-T-C p.Lys173Lys synonymous A2M 1 80902 1.23606E-5 40451 0 4.78473E-6
12-9220349-CA-C p.Cys170fs frameshift A2M 2 81340 2.45881E-5 40670 0 4.46313E-6
12-9220358-G-T p.Thr167Lys missense A2M 8 81598 9.80416E-5 40799 0 4.32713E-4
12-9220370-G-GAGCTCTGAGAACAGGA p.Ser163fs frameshift A2M 3 81876 3.66408E-5 40938 0 2.83527E-5
12-9220372-G-A p.Ser162Ser synonymous A2M 1 81926 1.22061E-5 40963 0 1.2306E-5
12-9220376-T-C p.Gln161Arg missense A2M 1 81946 1.22032E-5 40973 0 1.24011E-5
12-9220377-G-A p.Gln161* stop_gained A2M 4 81966 4.88007E-5 40983 0 NA
12-9220381-A-AGG p.Ser160fs frameshift A2M 1 81974 1.2199E-5 40987 0 NA
12-9220389-C-A p.Glu157* stop_gained A2M 45 82018 5.4866E-4 41009 0 8.91663E-4
12-9220389-C-T p.Glu157Lys missense A2M 1 82020 1.21921E-5 41010 0 NA
12-9220409-C-G c.450-1G>C splice_acceptor A2M 1 82124 1.21767E-5 41062 0 NA
12-9220414-G-A c.450-6C>T splice_region A2M 1 82134 1.21752E-5 41067 0 9.05888E-5
12-9220443-A-G c.4409-8T>C splice_region A2M 1 82094 1.21812E-5 41047 0 NA
12-9220772-G-GGCTT c.4408+3_4408+6dupAAGC splice_region A2M 1 81764 1.22303E-5 40882 0 NA
12-9220776-T-C c.4408+3A>G splice_region A2M 1 81680 1.22429E-5 40840 0 NA
12-9220778-C-A c.4408+1G>T splice_donor A2M 2 81654 2.44936E-5 40827 0 NA
12-9220784-C-T p.Ser1468Asn missense A2M 1 81516 1.22675E-5 40758 0 NA
12-9220795-A-T p.Asn1464Lys missense A2M 1 81232 1.23104E-5 40616 0 NA
12-9220805-G-A p.Ala1461Val missense A2M 1 80512 1.24205E-5 40256 0 NA
12-9220805-GC-CT p.Ala1461Ser missense A2M 1 80512 1.24205E-5 40256 0 NA
12-9220815-ACTCATCTG-A p.Asp1456fs frameshift A2M 1 79826 1.25272E-5 39913 0 NA
12-9220823-G-GA c.4367-4_4367-3insT splice_region A2M 588 64980 0.00904894 32490 0 0.276165
12-9220823-GA-G c.4367-4delT splice_region A2M 163 76940 0.00211853 38470 0 0.121829
12-9220823-G-GAA c.4367-4_4367-3insTT splice_region A2M 1 78100 1.28041E-5 39050 0 0.00183701
12-9220823-GAA-G c.4367-5_4367-4delTT splice_region A2M 2 78154 2.55905E-5 39077 0 5.22598E-4
12-9220823-G-T c.4367-3C>A splice_region A2M 1 78182 1.27907E-5 39091 0 1.58363E-5
12-9220823-G-GAAAAA c.4367-4_4367-3insTTTTT splice_region A2M 1 78182 1.27907E-5 39091 0 NA
12-9220826-A-G c.4367-6T>C splice_region A2M 40 78880 5.07099E-4 39440 1 0.00375
12-9221326-TCTCA-T c.4366+6_4366+9delTGAG splice_region A2M 8 82406 9.70803E-5 41203 0 0.00145056
12-9221333-C-T c.4366+3G>A splice_region A2M 1 82436 1.21306E-5 41218 0 1.3351E-5
12-9221338-G-A p.Thr1455Met missense+splice_region A2M 7 82450 8.48999E-5 41225 0 1.27405E-4
12-9221339-T-C p.Thr1455Ala missense A2M 1 82462 1.21268E-5 41231 0 NA
12-9221342-C-T p.Glu1454Lys missense A2M 1 82476 1.21247E-5 41238 0 NA
12-9221343-G-A p.Tyr1453Tyr synonymous A2M 4 82484 4.84943E-5 41242 0 1.4708E-4
12-9221376-C-G p.Leu1442Leu synonymous A2M 1 82488 1.2123E-5 41244 0 NA
12-9221388-T-C p.Pro1438Pro synonymous A2M 1 82510 1.21197E-5 41255 0 3.1835E-5
12-9221394-A-G p.Asp1436Asp synonymous A2M 5 82504 6.06031E-5 41252 0 4.13627E-6
12-9221406-C-T p.Thr1432Thr synonymous A2M 3 82488 3.63689E-5 41244 0 5.04032E-4
12-9221407-G-A p.Thr1432Met missense A2M 2 82484 2.42471E-5 41242 0 2.76886E-5
12-9221409-G-A p.Phe1431Phe synonymous A2M 1 82496 1.21218E-5 41248 0 1.2584E-5
12-9222345-T-C p.Asp1420Gly missense A2M 1 82312 1.21489E-5 41156 0 8.28253E-6
12-9222353-A-C p.Ile1417Met missense A2M 1 82356 1.21424E-5 41178 0 NA
12-9222372-C-T p.Ser1411Asn missense A2M 1 82338 1.21451E-5 41169 0 3.18471E-5
12-9222373-T-G p.Ser1411Arg missense A2M 15 82342 1.82167E-4 41171 0 2.54728E-4
12-9222385-G-A p.Arg1407Trp missense A2M 87 82314 0.00105693 41157 0 0.00280398
12-9222392-A-G p.His1404His synonymous A2M 1 82318 1.2148E-5 41159 0 6.37146E-5
12-9222402-C-G p.Arg1401Thr missense A2M 1 82276 1.21542E-5 41138 0 NA
12-9223107-G-C p.Pro1391Ala missense A2M 2 82740 2.41721E-5 41370 0 NA
12-9223137-C-T p.Val1381Ile missense A2M 7 82732 8.46105E-5 41366 0 6.37064E-5
12-9223138-G-A p.Ile1380Ile synonymous A2M 2 82740 2.41721E-5 41370 0 3.18512E-5
12-9223142-G-A p.Ala1379Val missense A2M 1 82728 1.20878E-5 41364 0 9.55414E-5
12-9223155-C-A p.Ala1375Ser missense A2M 2 82714 2.41797E-5 41357 0 3.18532E-5
12-9223160-C-T p.Arg1373His missense A2M 5 82696 6.04624E-5 41348 0 9.55718E-5
12-9223161-G-A p.Arg1373Cys missense A2M 1 82690 1.20934E-5 41345 0 NA
12-9223167-C-T p.Gly1371Arg missense A2M 1 82664 1.20972E-5 41332 0 8.76855E-6
12-9223179-G-T c.4104-5C>A splice_region A2M 1 82580 1.21095E-5 41290 0 NA
12-9224948-G-A c.4103+7C>T splice_region A2M 1 82534 1.21162E-5 41267 0 3.1837E-5
12-9224951-T-G c.4103+4A>C splice_region A2M 3 82542 3.63451E-5 41271 0 3.1839E-5
12-9224972-T-G p.Gln1362His missense A2M 1 82596 1.21071E-5 41298 0 NA
12-9224983-T-G p.Thr1359Pro missense A2M 1 82604 1.2106E-5 41302 0 NA
12-9224991-T-C p.Lys1356Arg missense A2M 1 82616 1.21042E-5 41308 0 1.20314E-5
12-9225025-C-T p.Val1345Met missense A2M 18 82698 2.17659E-4 41349 0 1.28503E-4
12-9225034-C-A p.Ala1342Ser missense A2M 4 82740 4.83442E-5 41370 0 9.55536E-5
12-9225042-A-G p.Phe1339Ser missense A2M 1 82768 1.2082E-5 41384 0 8.3357E-6
12-9225059-G-C p.Leu1333Leu synonymous A2M 1 82766 1.20823E-5 41383 0 6.68852E-5
12-9225064-T-C p.Ile1332Val missense A2M 3 82776 3.62424E-5 41388 0 8.35939E-6
12-9225066-T-C p.Asn1331Ser missense A2M 4 82772 4.83255E-5 41386 0 3.34521E-5
12-9225085-A-G c.3976-3T>C splice_region A2M 2 82774 2.41622E-5 41387 0 6.25782E-4
12-9225243-T-A c.3975+6A>T splice_region A2M 2 83068 2.40767E-5 41534 0 NA
12-9225255-G-A p.Tyr1323Tyr synonymous A2M 1 83130 1.20294E-5 41565 0 NA
12-9225257-A-G p.Tyr1323His missense A2M 1 83152 1.20262E-5 41576 0 3.99997E-6
12-9225260-C-T p.Val1322Ile missense A2M 4 83158 4.81012E-5 41579 0 NA
12-9225285-G-A p.Ser1313Ser synonymous A2M 1 83266 1.20097E-5 41633 0 NA
12-9225287-T-A p.Ser1313Cys missense A2M 1 83272 1.20088E-5 41636 0 NA
12-9225310-A-G p.Leu1305Ser missense A2M 5 83290 6.00312E-5 41645 0 3.99412E-6
12-9225323-G-T p.Gln1301Lys missense A2M 1 83286 1.20068E-5 41643 0 7.98792E-6
12-9225335-G-A p.Arg1297Cys missense A2M 10 83248 1.20123E-4 41624 0 7.59065E-5
12-9225356-A-G p.Phe1290Leu missense A2M 1 83032 1.20435E-5 41516 0 NA
12-9225375-T-C p.Ser1283Ser synonymous A2M 1 82886 1.20648E-5 41443 0 1.99962E-5
12-9225379-G-C p.Ser1282Cys missense A2M 1 82838 1.20718E-5 41419 0 NA
12-9225395-G-T p.Gln1277Lys missense A2M 2 82544 2.42295E-5 41272 0 6.36943E-5
12-9225411-C-T p.Arg1271Arg synonymous A2M 1 82060 1.21862E-5 41030 0 NA
12-9225413-T-C p.Arg1271Gly missense A2M 1 82026 1.21913E-5 41013 0 NA
12-9225418-A-T p.Phe1269Tyr missense A2M 1 81816 1.22225E-5 40908 0 NA
12-9225427-G-T p.Ala1266Glu missense A2M 1 81278 1.23035E-5 40639 0 NA
12-9225428-C-T p.Ala1266Thr missense A2M 1 81180 1.23183E-5 40590 0 3.18471E-5
12-9225432-A-G p.Tyr1264Tyr synonymous A2M 1 80948 1.23536E-5 40474 0 NA
12-9225448-T-G p.His1259Pro missense A2M 1 79404 1.25938E-5 39702 0 1.74712E-5
12-9225458-C-G p.Val1256Leu missense A2M 1 78038 1.28143E-5 39019 0 1.21502E-5
12-9227151-C-T c.3756+5G>A splice_region A2M 1 83296 1.20054E-5 41648 0 NA
12-9227152-C-T c.3756+4G>A splice_region A2M 29 83288 3.48189E-4 41644 0 0.001265
12-9227159-G-T p.Thr1251Thr synonymous A2M 1 83302 1.20045E-5 41651 0 NA
12-9227162-G-T p.Ser1250Ser synonymous A2M 1 83288 1.20065E-5 41644 0 NA
12-9227166-G-A p.Ser1249Phe missense A2M 1 83284 1.20071E-5 41642 0 1.34117E-5
12-9227180-G-A p.Ala1244Ala synonymous A2M 1 83342 1.19988E-5 41671 0 1.10446E-5
12-9227195-C-T p.Thr1239Thr synonymous A2M 13 83350 1.55969E-4 41675 0 6.25E-4
12-9227196-G-A p.Thr1239Met missense A2M 28 83356 3.35909E-4 41678 1 7.96787E-4
12-9227210-G-A p.Ile1234Ile synonymous A2M 70 83362 8.39711E-4 41681 1 9.23344E-4
12-9227222-A-G p.Ser1230Ser synonymous A2M 3 83370 3.59842E-5 41685 0 1.24182E-4
12-9227233-C-A p.Asp1227Tyr missense A2M 1 83368 1.1995E-5 41684 0 6.1354E-5
12-9227237-C-A p.Ser1225Ser synonymous A2M 1 83352 1.19973E-5 41676 0 3.98559E-6
12-9227237-C-T p.Ser1225Ser synonymous A2M 3 83352 3.59919E-5 41676 0 3.18796E-5
12-9227240-G-A p.Thr1224Thr synonymous A2M 1 83360 1.19962E-5 41680 0 1.19497E-5
12-9227255-G-A p.Ala1219Ala synonymous A2M 1 83366 1.19953E-5 41683 0 NA
12-9227256-G-T p.Ala1219Asp missense A2M 4 83364 4.79823E-5 41682 0 3.18532E-5
12-9227258-C-T p.Thr1218Thr synonymous A2M 1 83346 1.19982E-5 41673 0 8.58708E-6
12-9227259-G-A p.Thr1218Met missense A2M 1 83332 1.20002E-5 41666 0 1.7175E-5
12-9227269-C-T p.Ala1215Thr missense A2M 2 83340 2.39981E-5 41670 0 1.19509E-5
12-9227269-C-A p.Ala1215Ser missense A2M 1 83340 1.1999E-5 41670 0 NA
12-9227300-A-G p.Ala1204Ala synonymous A2M 2 83384 2.39854E-5 41692 0 2.58087E-5
12-9227319-T-A p.Glu1198Val missense A2M 1 83382 1.1993E-5 41691 0 7.96933E-6
12-9227320-C-T p.Glu1198Lys missense A2M 1 83378 1.19936E-5 41689 0 2.3921E-5
12-9227337-G-A p.Pro1192Leu missense A2M 1 83364 1.19956E-5 41682 0 9.11793E-6
12-9227341-C-T p.Ala1191Thr missense A2M 1 83354 1.1997E-5 41677 0 3.99418E-6
12-9227348-TTTCTGAGG-T p.Pro1186fs frameshift A2M 3 83362 3.59876E-5 41681 0 3.18573E-5
12-9227359-GCT-G p.Glu1184fs frameshift A2M 3 83316 3.60075E-5 41658 0 3.18431E-5
12-9227359-G-A p.Arg1185Cys missense A2M 1 83316 1.20025E-5 41658 0 6.36862E-5
12-9227380-C-G c.3533-1G>C splice_acceptor A2M 1 83136 1.20285E-5 41568 0 NA
12-9229359-C-T p.Val1175Val synonymous A2M 1 83088 1.20354E-5 41544 0 3.18492E-5
12-9229363-G-C p.Ala1174Gly missense A2M 1 83092 1.20349E-5 41546 0 1.66E-5
12-9229364-C-T p.Ala1174Thr missense A2M 2 83084 2.4072E-5 41542 0 1.65981E-5
12-9229390-T-C p.Glu1165Gly missense A2M 12 83110 1.44387E-4 41555 0 6.25E-4
12-9229396-C-G p.Arg1163Thr missense A2M 1 83092 1.20349E-5 41546 0 NA
12-9229399-T-C p.Lys1162Arg missense A2M 36 83100 4.33213E-4 41550 0 8.60256E-4
12-9229404-C-G p.Gln1160His missense A2M 1 83084 1.2036E-5 41542 0 4.00834E-6
12-9229428-A-G p.Tyr1152Tyr synonymous A2M 78 83112 9.38493E-4 41556 0 0.00121058
12-9229429-T-C p.Tyr1152Cys missense A2M 1 83114 1.20317E-5 41557 0 4.0024E-6
12-9229433-C-T p.Ala1151Thr missense A2M 1 83116 1.20314E-5 41558 0 8.28226E-6
12-9229447-G-T p.Thr1146Asn missense A2M 1 83114 1.20317E-5 41557 0 6.25E-4
12-9229465-T-C p.His1140Arg missense A2M 1 83044 1.20418E-5 41522 0 3.18471E-5
12-9229467-G-T p.Asp1139Glu missense A2M 1 83022 1.2045E-5 41511 0 6.37105E-5
12-9229475-C-T p.Glu1137Lys missense A2M 1 82982 1.20508E-5 41491 0 NA
12-9229477-T-C p.Gln1136Arg missense A2M 1 82966 1.20531E-5 41483 0 NA
12-9229497-C-T p.Glu1129Glu synonymous A2M 1 82632 1.21018E-5 41316 0 NA
12-9229498-T-G p.Glu1129Ala missense A2M 1 82612 1.21048E-5 41306 0 NA
12-9229501-A-G p.Leu1128Pro missense A2M 1 82568 1.21112E-5 41284 0 NA
12-9229519-C-T p.Arg1122His missense A2M 1 82118 1.21776E-5 41059 0 8.68297E-6
12-9229520-G-A p.Arg1122Cys missense A2M 2 82082 2.43659E-5 41041 0 2.60838E-5
12-9229529-G-C p.Pro1119Ala missense A2M 1 81814 1.22228E-5 40907 0 4.34798E-6
12-9229943-G-C p.Thr1117Ser missense+splice_region A2M 1 82634 1.21016E-5 41317 0 NA
12-9229965-G-A p.Leu1110Leu synonymous A2M 1 82770 1.20817E-5 41385 0 NA
12-9229971-C-T p.Ala1108Thr missense A2M 2 82752 2.41686E-5 41376 0 2.00195E-5
12-9229972-G-A p.Ile1107Ile synonymous A2M 3 82760 3.62494E-5 41380 0 NA
12-9229986-C-T p.Ala1103Thr missense A2M 65 82720 7.85783E-4 41360 0 0.00219773
12-9229987-G-A p.Ser1102Ser synonymous A2M 2 82734 2.41739E-5 41367 0 7.17527E-5
12-9229994-G-T p.Thr1100Asn missense A2M 2 82668 2.41932E-5 41334 0 4.00798E-6
12-9230010-C-T p.Val1095Ile missense A2M 1 82566 1.21115E-5 41283 0 NA
12-9230012-C-T p.Gly1094Glu missense A2M 1 82568 1.21112E-5 41284 0 9.17128E-6
12-9230013-C-T p.Gly1094Arg missense A2M 14 82572 1.69549E-4 41286 0 0.00100705
12-9230291-A-G c.3276+6T>C splice_region A2M 1 83244 1.20129E-5 41622 0 NA
12-9230292-T-A c.3276+5A>T splice_region A2M 4 83244 4.80515E-5 41622 0 3.99055E-6
12-9230325-G-T p.Ser1083Tyr missense A2M 1 83314 1.20028E-5 41657 0 NA
12-9230351-C-G p.Gln1074His missense A2M 1 83316 1.20025E-5 41658 0 NA
12-9230351-C-T p.Gln1074Gln synonymous A2M 1 83316 1.20025E-5 41658 0 1.98918E-5
12-9230355-C-T p.Arg1073Lys missense A2M 1 83314 1.20028E-5 41657 0 NA
12-9230356-T-G p.Arg1073Arg synonymous A2M 1 83312 1.20031E-5 41656 0 NA
12-9230357-C-G p.Gln1072His missense A2M 1 83312 1.20031E-5 41656 0 NA
12-9230360-G-A p.Ser1071Ser synonymous A2M 1 83302 1.20045E-5 41651 0 NA
12-9230391-G-A p.Ala1061Val missense A2M 1 83288 1.20065E-5 41644 0 NA
12-9230395-C-A p.Glu1060* stop_gained A2M 1 83288 1.20065E-5 41644 0 8.24661E-6
12-9230396-A-G p.Asp1059Asp synonymous A2M 1 83282 1.20074E-5 41641 0 NA
12-9230398-C-T p.Asp1059Asn missense A2M 1 83282 1.20074E-5 41641 0 3.97861E-6
12-9230399-G-A p.Ile1058Ile synonymous A2M 2 83280 2.40154E-5 41640 0 3.18471E-5
12-9230400-A-G p.Ile1058Thr missense A2M 2 83276 2.40165E-5 41638 0 6.37024E-5
12-9230403-A-T p.Phe1057Tyr missense A2M 1 83270 1.20091E-5 41635 0 NA
12-9230408-G-A p.Tyr1055Tyr synonymous A2M 1 83262 1.20103E-5 41631 0 3.97937E-6
12-9230411-G-T p.Ala1054Ala synonymous A2M 1 83254 1.20114E-5 41627 0 NA
12-9230412-G-T p.Ala1054Asp missense A2M 1 83248 1.20123E-5 41624 0 3.18451E-5
12-9230413-C-T p.Ala1054Thr missense A2M 1 83248 1.20123E-5 41624 0 NA
12-9230415-C-G p.Arg1053Pro missense A2M 1 83246 1.20126E-5 41623 0 3.98099E-6
12-9230419-C-A p.Ala1052Ser missense A2M 2 83244 2.40258E-5 41622 0 3.18471E-5
12-9230458-C-T c.3120-5G>A splice_region A2M 4 83048 4.81649E-5 41524 0 NA
12-9230458-C-A c.3120-5G>T splice_region A2M 2 83048 2.40825E-5 41524 0 NA
12-9231843-G-C p.Thr1039Ser missense A2M 2 83278 2.40159E-5 41639 0 NA
12-9231854-G-C p.Asn1035Lys missense A2M 1 83286 1.20068E-5 41643 0 3.18573E-5
12-9231867-C-T p.Arg1031Gln missense A2M 105 83310 0.00126035 41655 0 0.003125
12-9231868-G-A p.Arg1031* stop_gained A2M 2 83316 2.4005E-5 41658 0 7.96292E-6
12-9231869-C-T p.Glu1030Glu synonymous A2M 13 83322 1.56021E-4 41661 0 3.30464E-5
12-9231890-G-A p.Gly1023Gly synonymous A2M 1 83326 1.20011E-5 41663 0 7.95881E-6
12-9231899-G-A p.His1020His synonymous A2M 1 83316 1.20025E-5 41658 0 8.26064E-6
12-9231908-G-T p.Asn1017Lys missense A2M 1 83296 1.20054E-5 41648 0 NA
12-9231913-A-G p.Leu1016Leu synonymous A2M 2 83280 2.40154E-5 41640 0 1.19401E-5
12-9231922-G-A p.Gln1013* stop_gained A2M 1 83276 1.20083E-5 41638 0 NA
12-9231930-G-A c.3032-3C>T splice_region A2M 2 83258 2.40217E-5 41629 0 3.98241E-6
12-9232227-T-A c.3031+8A>T splice_region A2M 2 82478 2.42489E-5 41239 0 NA
12-9232246-T-C p.Tyr1007Cys missense A2M 1 82546 1.21145E-5 41273 0 4.02557E-6
12-9232252-A-G p.Ile1005Thr missense A2M 2 82578 2.42195E-5 41289 0 2.10431E-4
12-9232258-T-G p.Lys1003Thr missense A2M 4 82560 4.84496E-5 41280 0 2.5468E-4
12-9232268-T-C p.Ile1000Val missense A2M 25390 82238 0.308738 41119 4036 0.338458
12-9232275-A-T p.Thr997Thr synonymous A2M 2 82640 2.42014E-5 41320 0 3.18471E-5
12-9232278-A-C p.Leu996Leu synonymous A2M 2 82638 2.42019E-5 41319 0 NA
12-9232288-G-A p.Thr993Ile missense A2M 3 82686 3.62818E-5 41343 0 6.37024E-5
12-9232304-C-T p.Asp988Asn missense A2M 7 82738 8.46044E-5 41369 0 0.00251762
12-9232312-T-C p.Tyr985Cys missense A2M 21 82764 2.53734E-4 41382 0 5.03525E-4
12-9232313-A-G p.Tyr985His missense A2M 3 82756 3.62511E-5 41378 0 NA
12-9232322-G-A p.Pro982Ser missense A2M 2 82792 2.41569E-5 41396 0 4.01139E-6
12-9232325-C-A p.Ala981Ser missense A2M 17 82790 2.05339E-4 41395 0 6.25E-4
12-9232329-G-A p.Leu979Leu synonymous A2M 3 82780 3.62406E-5 41390 0 8.40647E-6
12-9232336-A-G p.Met977Thr missense A2M 1 82782 1.20799E-5 41391 0 1.68489E-5
12-9232351-C-T p.Cys972Tyr missense A2M 1 82778 1.20805E-5 41389 0 NA
12-9232357-T-C p.Tyr970Cys missense A2M 1 82754 1.2084E-5 41377 0 4.02311E-6
12-9232362-C-G p.Met968Ile missense A2M 1 82742 1.20858E-5 41371 0 4.03301E-6
12-9232388-G-T p.Gln960Lys missense A2M 1 82524 1.21177E-5 41262 0 4.07727E-6
12-9232398-G-A p.Gly956Gly synonymous A2M 2 82366 2.42819E-5 41183 0 1.23733E-5
12-9232405-A-G p.Ile954Thr missense A2M 3 82238 3.64795E-5 41119 0 2.89614E-5
12-9232406-T-C p.Ile954Val missense A2M 7 82192 8.51664E-5 41096 0 6.36983E-5
12-9232697-T-C p.Ser949Ser synonymous A2M 2 82250 2.43161E-5 41125 0 NA
12-9232702-C-T p.Val948Ile missense A2M 1 82268 1.21554E-5 41134 0 4.75114E-6
12-9232710-C-T p.Arg945Gln missense A2M 4 82284 4.86121E-5 41142 0 6.37308E-5
12-9232712-G-C p.Ala944Ala synonymous A2M 2 82292 2.43037E-5 41146 0 5.42358E-5
12-9232716-G-C p.Ser943Cys missense A2M 1 82318 1.2148E-5 41159 0 NA
12-9232723-C-A p.Glu941* stop_gained A2M 1 82318 1.2148E-5 41159 0 NA
12-9232732-T-C p.Asn938Asp missense A2M 24 82314 2.91566E-4 41157 0 5.41574E-4
12-9232743-T-A p.Lys934Ile missense A2M 26 82274 3.16017E-4 41137 0 6.28997E-4
12-9232746-A-AG p.Leu933fs frameshift A2M 1 82256 1.21572E-5 41128 0 NA
12-9232766-C-A p.Glu926Asp missense A2M 1 82116 1.21779E-5 41058 0 NA
12-9232766-C-T p.Glu926Glu synonymous A2M 2 82116 2.43558E-5 41058 0 1.63035E-4
12-9232777-G-C c.2771-4C>G splice_region A2M 18 81996 2.19523E-4 40998 0 6.05481E-4
12-9232777-G-A c.2771-4C>T splice_region A2M 1 81996 1.21957E-5 40998 0 5.15289E-6
12-9232863-C-CT n.125+6_125+7insA splice_region A2M 1 70368 1.4211E-5 35184 0 NA
12-9232866-A-T n.125+4T>A splice_region A2M 1 68984 1.44961E-5 34492 0 3.1841E-5
12-9232870-C-A n.125G>T splice_region A2M 5 67478 7.40982E-5 33739 0 3.18492E-5
12-9241813-G-C p.Ser918Cys missense A2M 1 82374 1.21398E-5 41187 0 0.00100806
12-9241815-G-T p.Asn917Lys missense A2M 1 82380 1.21389E-5 41190 0 NA
12-9241816-T-C p.Asn917Ser missense A2M 1 82376 1.21395E-5 41188 0 4.99301E-5
12-9241825-G-T p.Thr914Lys missense A2M 2 82374 2.42795E-5 41187 0 NA
12-9241830-C-T p.Lys912Lys synonymous A2M 1 82376 1.21395E-5 41188 0 NA
12-9241843-TC-T p.Glu908fs frameshift A2M 2 82358 2.42842E-5 41179 1 NA
12-9241853-G-C c.2719-6C>G splice_region A2M 1 82306 1.21498E-5 41153 0 NA
12-9242510-AG-A p.Pro902fs frameshift A2M 1 82506 1.21203E-5 41253 0 NA
12-9242526-T-C p.Asp897Gly missense A2M 2 82586 2.42172E-5 41293 0 3.18492E-5
12-9242529-T-G p.Lys896Thr missense A2M 1 82582 1.21092E-5 41291 0 4.01136E-6
12-9242536-C-T p.Gly894Arg missense A2M 1 82580 1.21095E-5 41290 0 1.20341E-5
12-9242537-G-A p.His893His synonymous A2M 1 82570 1.21109E-5 41285 0 3.19142E-5
12-9242552-A-G p.Pro888Pro synonymous A2M 3 82574 3.63311E-5 41287 0 3.18492E-5
12-9242564-C-T p.Gly884Gly synonymous A2M 1 82562 1.21121E-5 41281 0 4.01139E-6
12-9242565-C-T p.Gly884Glu missense A2M 1 82560 1.21124E-5 41280 0 4.0113E-6
12-9242567-A-G p.Cys883Cys synonymous A2M 1 82558 1.21127E-5 41279 0 NA
12-9242574-T-C p.Glu881Gly missense A2M 2 82560 2.42248E-5 41280 0 3.18613E-5
12-9242579-A-G p.Ser879Ser synonymous A2M 1 82552 1.21136E-5 41276 0 NA
12-9242582-C-G p.Glu878Asp missense A2M 1 82558 1.21127E-5 41279 0 NA
12-9242582-C-T p.Glu878Glu synonymous A2M 2 82558 2.42254E-5 41279 0 8.2813E-6
12-9242596-C-T p.Ala874Thr missense A2M 7 82530 8.48176E-5 41265 0 0.00100705
12-9242596-C-G p.Ala874Pro missense A2M 1 82532 1.21165E-5 41266 0 NA
12-9242597-G-A p.Ser873Ser synonymous A2M 1 82526 1.21174E-5 41263 0 8.28212E-6
12-9242613-A-T p.Val868Glu missense A2M 1 82458 1.21274E-5 41229 0 8.28528E-6
12-9242615-A-C p.Asn867Lys missense A2M 2 82448 2.42577E-5 41224 0 NA
12-9242616-T-C p.Asn867Ser missense A2M 1 82418 1.21333E-5 41209 0 NA
12-9242622-G-GT c.2597-4_2597-3insA splice_region A2M 1 82372 1.214E-5 41186 0 2.97533E-5
12-9242622-GA-G c.2597-4delT splice_region A2M 2 82374 2.42795E-5 41187 0 3.40038E-5
12-9242622-G-GA c.2597-4_2597-3insT splice_region A2M 1 82372 1.214E-5 41186 0 6.46538E-5
12-9242623-A-T c.2597-4T>A splice_region A2M 13617 82006 0.166049 41003 1182 0.194375
12-9242959-C-T p.Lys863Lys synonymous A2M 2 82838 2.41435E-5 41419 0 8.2802E-6
12-9242972-G-T p.Ala859Glu missense A2M 1 82848 1.20703E-5 41424 0 NA
12-9242980-C-T p.Val856Val synonymous A2M 1 82854 1.20694E-5 41427 0 NA
12-9242990-C-T p.Arg853Gln missense A2M 2 82854 2.41388E-5 41427 0 NA
12-9242991-G-A p.Arg853Trp missense A2M 9 82852 1.08627E-4 41426 0 6.36943E-5
12-9243001-A-G p.Cys849Cys synonymous A2M 28 82854 3.37944E-4 41427 0 1.82161E-4
12-9243015-G-A p.Pro845Ser missense A2M 1 82834 1.20723E-5 41417 0 NA
12-9243016-C-T p.Ala844Ala synonymous A2M 478 82838 0.0057703 41419 7 0.0102886
12-9243017-G-A p.Ala844Val missense A2M 1623 82820 0.0195967 41410 26 0.026875
12-9243017-G-T p.Ala844Glu missense A2M 5 82834 6.03617E-5 41417 0 6.37064E-5
12-9243018-C-T p.Ala844Thr missense A2M 1 82836 1.2072E-5 41418 0 1.57321E-4
12-9243025-C-G p.Lys841Asn missense A2M 1 82834 1.20723E-5 41417 0 NA
12-9243034-T-C p.Pro838Pro synonymous A2M 1 82814 1.20753E-5 41407 0 1.65612E-5
12-9243045-G-A p.Leu835Leu synonymous A2M 1 82808 1.20761E-5 41404 0 NA
12-9243052-G-A p.Pro832Pro synonymous A2M 38 82782 4.59037E-4 41391 1 7.64283E-4
12-9243054-G-A p.Pro832Ser missense A2M 2 82776 2.41616E-5 41388 0 NA
12-9243060-C-T p.Ala830Thr missense A2M 1 82748 1.20849E-5 41374 0 8.28322E-6
12-9243062-T-A p.Glu829Val missense A2M 1 82752 1.20843E-5 41376 0 NA
12-9243085-C-G c.2470-7G>C splice_region A2M 1 82686 1.20939E-5 41343 0 2.81213E-5
12-9243790-T-A c.2469+7A>T splice_region A2M 2 82868 2.41348E-5 41434 0 3.98187E-6
12-9243798-C-T p.Arg823Gln missense+splice_region A2M 2 83028 2.40883E-5 41514 0 6.37389E-5
12-9243799-G-A p.Arg823Trp missense+splice_region A2M 1 83054 1.20404E-5 41527 0 3.18573E-5
12-9243814-GGTA-G p.Tyr817del conservative_inframe_deletion A2M 2 83210 2.40356E-5 41605 0 8.23873E-6
12-9243823-G-A p.Leu815Leu synonymous A2M 2 83264 2.402E-5 41632 0 NA
12-9243827-C-T p.Thr813Thr synonymous A2M 3 83286 3.60205E-5 41643 0 9.55962E-5
12-9243835-T-C p.Lys811Glu missense A2M 1 83326 1.20011E-5 41663 0 3.18431E-5
12-9243855-C-T p.Arg804His missense A2M 2 83362 2.39917E-5 41681 0 6.58924E-5
12-9243856-G-T p.Arg804Ser missense A2M 1 83370 1.19947E-5 41685 0 3.18492E-5
12-9243856-G-A p.Arg804Cys missense A2M 1 83370 1.19947E-5 41685 0 3.18492E-5
12-9243856-G-C p.Arg804Gly missense A2M 2 83370 2.39894E-5 41685 0 3.97621E-6
12-9243860-C-T p.Val802Val synonymous A2M 1 83368 1.1995E-5 41684 0 NA
12-9243869-A-G p.Pro799Pro synonymous A2M 1 83380 1.19933E-5 41690 0 3.18512E-5
12-9243873-A-T p.Met798Lys missense A2M 1 83376 1.19939E-5 41688 0 3.97621E-6
12-9243886-C-A p.Val794Leu missense A2M 8 83372 9.59555E-5 41686 0 1.91156E-4
12-9243888-A-G p.Phe793Ser missense A2M 3 83372 3.59833E-5 41686 0 3.18512E-5
12-9243889-AGAAGGGCTG-A p.Gln790_Phe792del conservative_inframe_deletion A2M 2 83370 2.39894E-5 41685 0 NA
12-9243895-G-A p.Pro791Ser missense A2M 1 83372 1.19944E-5 41686 0 3.97624E-6
12-9243896-C-T p.Gln790Gln synonymous A2M 1 83368 1.1995E-5 41684 0 NA
12-9243906-C-T p.Arg787Gln missense A2M 1 83356 1.19967E-5 41678 0 3.18695E-5
12-9243907-G-A p.Arg787* stop_gained A2M 1 83364 1.19956E-5 41682 0 7.95241E-6
12-9243914-G-A p.Ala784Ala synonymous A2M 1 83352 1.19973E-5 41676 0 7.95254E-5
12-9243917-A-G p.Thr783Thr synonymous A2M 1 83348 1.19979E-5 41674 0 NA
12-9243923-A-G p.Ser781Ser synonymous A2M 1 83348 1.19979E-5 41674 0 NA
12-9243931-C-G p.Gly779Arg missense A2M 1 83338 1.19993E-5 41669 0 NA
12-9243935-TC-T p.Gly777fs frameshift A2M 1 83342 1.19988E-5 41671 0 8.23642E-6
12-9243950-C-A p.Leu772Leu synonymous A2M 1 83358 1.19964E-5 41679 0 1.19287E-5
12-9243960-G-A p.Ala769Val missense A2M 1 83354 1.1997E-5 41677 0 3.9763E-6
12-9243968-C-T p.Lys766Lys synonymous A2M 1 83360 1.19962E-5 41680 0 3.97624E-6
12-9243976-C-T p.Glu764Lys missense A2M 3 83342 3.59963E-5 41671 0 7.95254E-6
12-9243977-G-A p.Thr763Thr synonymous A2M 1 83348 1.19979E-5 41674 0 8.23655E-6
12-9243986-G-A p.Asp760Asp synonymous A2M 2 83334 2.39998E-5 41667 0 8.23683E-6
12-9243995-T-C p.Thr757Thr synonymous A2M 1 83334 1.19999E-5 41667 0 NA
12-9243997-T-C p.Thr757Ala missense A2M 1 83330 1.20005E-5 41665 0 1.6475E-5
12-9244009-C-T p.Glu753Lys missense A2M 2 83328 2.40015E-5 41664 0 3.18573E-5
12-9244021-C-A p.Ala749Ser missense A2M 1 83316 1.20025E-5 41658 0 1.19432E-5
12-9244031-G-A c.2241-6C>T splice_region A2M 1 83302 1.20045E-5 41651 0 NA
12-9246067-A-G p.Val745Ala missense A2M 1 82520 1.21183E-5 41260 0 NA
12-9246087-T-C p.Thr738Thr synonymous A2M 1 82550 1.21139E-5 41275 0 8.29889E-6
12-9246096-G-A p.Phe735Phe synonymous A2M 1 82560 1.21124E-5 41280 0 NA
12-9246105-T-C p.Arg732Arg synonymous A2M 2 82558 2.42254E-5 41279 0 NA
12-9246107-G-A p.Arg732* stop_gained A2M 1 82550 1.21139E-5 41275 0 2.00603E-5
12-9246110-C-T p.Val731Ile missense A2M 5 82550 6.05694E-5 41275 0 1.27689E-4
12-9246113-T-C p.Thr730Ala missense A2M 1 82558 1.21127E-5 41279 0 NA
12-9246124-G-A p.Pro726Leu missense A2M 1 82550 1.21139E-5 41275 0 NA
12-9246126-C-G p.Glu725Asp missense A2M 1 82544 1.21148E-5 41272 0 3.1957E-5
12-9246137-G-A p.His722Tyr missense A2M 1 82518 1.21186E-5 41259 0 4.04053E-6
12-9246138-C-T p.Val721Val synonymous A2M 1 82522 1.2118E-5 41261 0 NA
12-9246141-C-T p.Leu720Leu synonymous A2M 1 82534 1.21162E-5 41267 0 6.25E-4
12-9246163-A-G p.Met713Thr missense A2M 1 82364 1.21412E-5 41182 0 NA
12-9246176-CTATGG-C c.2126-6_2126-2delCCATA splice_acceptor A2M 13641 81838 0.166683 40919 1197 0.151859
12-9246180-G-A c.2126-5C>T splice_region A2M 1 77310 1.29349E-5 38655 0 NA
12-9247563-G-A c.2125+6C>T splice_region A2M 1 79216 1.26237E-5 39608 0 NA
12-9247583-CG-C p.Arg704fs frameshift A2M 1 80700 1.23916E-5 40350 0 NA
12-9247584-G-A p.Arg704Cys missense A2M 1 80626 1.24029E-5 40313 0 4.39309E-5
12-9247598-C-T p.Gly699Glu missense A2M 2 81280 2.46063E-5 40640 0 NA
12-9247604-A-G p.Met697Thr missense A2M 1 81470 1.22745E-5 40735 0 NA
12-9247630-C-G p.Met688Ile missense A2M 1 81650 1.22474E-5 40825 0 NA
12-9247631-A-G p.Met688Thr missense A2M 1 81656 1.22465E-5 40828 0 NA
12-9247636-G-C p.Pro686Pro synonymous A2M 11 81656 1.34711E-4 40828 0 6.25E-4
12-9247643-C-T p.Arg684His missense A2M 5 81586 6.1285E-5 40793 0 6.25E-4
12-9247678-G-A p.Asp672Asp splice_region+synonymous A2M 3 80724 3.71637E-5 40362 0 5.04541E-4
12-9247686-A-G c.2014-6T>C splice_region A2M 1 80178 1.24722E-5 40089 0 NA
12-9247687-A-T c.2014-7T>A splice_region A2M 1 80078 1.24878E-5 40039 0 3.18857E-5
12-9247688-G-A c.2014-8C>T splice_region A2M 1 80038 1.24941E-5 40019 0 1.93461E-5
12-9248145-C-T p.Ser668Asn missense A2M 2 82200 2.43309E-5 41100 0 1.65848E-5
12-9248151-A-G p.Met666Thr missense A2M 1 82286 1.21527E-5 41143 0 8.28844E-6
12-9248157-T-C p.Lys664Arg missense A2M 1 82308 1.21495E-5 41154 0 3.18715E-5
12-9248198-A-G p.Ile650Ile synonymous A2M 1 82608 1.21054E-5 41304 0 NA
12-9248201-A-G p.Tyr649Tyr synonymous A2M 1 82654 1.20986E-5 41327 0 NA
12-9248211-T-C p.His646Arg missense A2M 1 82686 1.20939E-5 41343 0 2.40776E-5
12-9248214-C-T p.Arg645His missense A2M 5 82680 6.04741E-5 41340 0 2.55004E-4
12-9248215-G-T p.Arg645Ser missense A2M 1 82698 1.20922E-5 41349 0 NA
12-9248233-T-C p.Asn639Asp missense A2M 82279 82362 0.998992 41181 41101 1.0
12-9248238-T-C p.Gln637Arg missense A2M 1 82728 1.20878E-5 41364 0 NA
12-9248239-G-C p.Gln637Glu missense A2M 3 82732 3.62617E-5 41366 0 3.18959E-5
12-9248248-A-G p.Leu634Leu synonymous A2M 1 82718 1.20893E-5 41359 0 NA
12-9248256-G-A p.Pro631Leu missense A2M 2 82698 2.41844E-5 41349 0 4.01748E-6
12-9248259-A-G p.Phe630Ser missense A2M 1 82698 1.20922E-5 41349 0 4.02217E-6
12-9248265-G-A p.Thr628Ile missense A2M 4 82690 4.83734E-5 41345 0 7.64452E-5
12-9248285-C-T p.Cys61Tyr missense A2M 4 82560 4.84496E-5 41280 0 6.63251E-5
12-9251203-C-T p.Ser617Ser splice_region+synonymous A2M 2 81792 2.44523E-5 40896 0 4.19762E-5
12-9251204-G-A p.Ser617Leu missense+splice_region A2M 3 81862 3.6647E-5 40931 0 9.5584E-5
12-9251209-C-T p.Ala615Ala synonymous A2M 110 81948 0.00134231 40974 0 0.00328088
12-9251212-C-T p.Ser614Ser synonymous A2M 5 82048 6.09399E-5 41024 0 7.12479E-5
12-9251213-G-A p.Ser614Leu missense A2M 2 82092 2.43629E-5 41046 0 0.001875
12-9251215-G-C p.Leu613Leu synonymous A2M 1 82160 1.21714E-5 41080 0 5.01153E-5
12-9251229-G-C p.Pro609Ala missense A2M 1 82326 1.21468E-5 41163 0 3.18492E-5
12-9251234-A-G p.Met607Thr missense A2M 1 82386 1.2138E-5 41193 0 1.37363E-4
12-9251245-G-A p.Ser603Ser synonymous A2M 6 82414 7.28032E-5 41207 0 6.37267E-5
12-9251274-C-T p.Val594Ile missense A2M 1 82530 1.21168E-5 41265 0 3.1835E-5
12-9251288-G-A p.Ala589Val missense A2M 1 82654 1.20986E-5 41327 0 3.01483E-5
12-9251294-A-G p.Val587Ala missense A2M 1 82654 1.20986E-5 41327 0 9.80162E-6
12-9251297-C-T p.Arg586Gln missense A2M 2 82686 2.41879E-5 41343 0 2.24154E-4
12-9251298-G-T p.Arg586Arg synonymous A2M 2 82688 2.41873E-5 41344 0 4.42973E-5
12-9251307-C-T p.Ala583Thr missense A2M 1 82662 1.20975E-5 41331 0 2.00986E-5
12-9251308-G-A p.His582His synonymous A2M 1 82682 1.20945E-5 41341 0 2.84107E-5
12-9251316-C-T p.Ala580Thr missense A2M 2 82702 2.41832E-5 41351 0 1.87427E-5
12-9251319-G-C p.Pro579Ala missense A2M 1 82702 1.20916E-5 41351 0 4.01139E-5
12-9251333-G-A p.Pro574Leu missense A2M 1 82700 1.20919E-5 41350 0 NA
12-9251336-C-A p.Ser573Ile missense A2M 2 82674 2.41914E-5 41337 0 NA
12-9251342-C-T p.Ser571Asn missense A2M 1 82682 1.20945E-5 41341 0 1.20527E-5
12-9251344-C-G p.Leu570Phe missense A2M 6 82712 7.25409E-5 41356 0 4.01858E-5
12-9251357-G-T c.1702-5C>A splice_region A2M 1 82692 1.20931E-5 41346 0 NA
12-9251969-A-G c.1701+8T>C splice_region A2M 1 82700 1.20919E-5 41350 0 NA
12-9251984-G-A p.Ala565Val missense A2M 5 82736 6.04332E-5 41368 0 5.04032E-4
12-9252001-A-T p.Asp559Glu missense A2M 1 82760 1.20831E-5 41380 0 NA
12-9252010-T-A p.Ala556Ala synonymous A2M 6 82760 7.24988E-5 41380 0 1.353E-4
12-9252017-T-A p.Asp554Val missense A2M 1 82770 1.20817E-5 41385 0 1.00361E-5
12-9252018-C-G p.Asp554His missense A2M 2 82776 2.41616E-5 41388 0 NA
12-9252020-C-A p.Gly553Val missense A2M 3 82778 3.62415E-5 41389 0 NA
12-9252023-A-G p.Ile552Thr missense A2M 2 82788 2.41581E-5 41394 0 6.25E-4
12-9252027-C-T p.Val551Met missense A2M 1 82786 1.20793E-5 41393 0 4.62852E-6
12-9252028-G-A p.Asp550Asp synonymous A2M 2 82786 2.41587E-5 41393 0 1.7125E-4
12-9252029-T-TC p.Asp550fs frameshift A2M 2 82790 2.41575E-5 41395 1 NA
12-9252033-C-T p.Gly549Arg missense A2M 6 82786 7.2476E-5 41393 0 3.18552E-5
12-9252034-G-A p.Thr548Thr synonymous A2M 3 82788 3.62371E-5 41394 0 6.37308E-5
12-9252037-A-G p.Pro547Pro synonymous A2M 1 82796 1.20779E-5 41398 0 NA
12-9252043-AAC-A p.Val545fs frameshift A2M 1 82798 1.20776E-5 41399 0 NA
12-9252063-G-A p.Arg57Trp missense+splice_region A2M 2 82806 2.41528E-5 41403 0 2.75528E-5
12-9252066-C-T p.Ala538Thr missense A2M 5 82800 6.03865E-5 41400 0 0.00151057
12-9252067-G-A p.Val537Val synonymous A2M 6 82794 7.2469E-5 41397 0 6.25E-4
12-9252071-G-A p.Pro536Leu missense A2M 1 82810 1.20758E-5 41405 0 4.11634E-6
12-9252096-T-C p.Ile528Val missense A2M 1 82786 1.20793E-5 41393 0 4.11651E-6
12-9252098-G-A p.Ser527Leu missense A2M 1 82778 1.20805E-5 41389 0 2.35032E-4
12-9252102-T-C p.Ile526Val missense A2M 1 82770 1.20817E-5 41385 0 3.75987E-5
12-9252120-C-A c.1559-1G>T splice_acceptor A2M 2 82760 2.41663E-5 41380 0 3.18573E-5
12-9252123-G-A c.1559-4C>T splice_region A2M 1 82750 1.20846E-5 41375 0 3.18674E-5
12-9253740-T-C p.Met520Val missense+splice_region A2M 5 82554 6.05664E-5 41277 0 5.85247E-6
12-9253778-C-T p.Arg507Gln missense A2M 1 82516 1.21189E-5 41258 0 NA
12-9253780-G-C p.Val506Val synonymous A2M 1 82506 1.21203E-5 41253 0 NA
12-9253792-C-T p.Lys502Lys synonymous A2M 16 82472 1.94005E-4 41236 0 1.91095E-4
12-9253793-T-C p.Lys502Arg missense A2M 3 82460 3.63813E-5 41230 0 3.95413E-5
12-9253807-CA-C c.1495-5delT splice_region A2M 1 82396 1.21365E-5 41198 0 2.44194E-5
12-9254035-C-T c.1494+8G>A splice_region A2M 1 81940 1.22041E-5 40970 0 NA
12-9254058-G-C p.Leu493Leu synonymous A2M 1 82488 1.2123E-5 41244 0 NA
12-9254076-C-A p.Leu487Leu synonymous A2M 2 82648 2.4199E-5 41324 0 1.20454E-5
12-9254079-G-A p.Thr486Thr synonymous A2M 1 82642 1.21004E-5 41321 0 NA
12-9254096-T-C p.Ile481Val missense A2M 2 82742 2.41715E-5 41371 0 NA
12-9254127-A-G p.Cys470Cys synonymous A2M 10 82794 1.20782E-4 41397 0 1.27421E-4
12-9254129-A-G p.Cys470Arg missense A2M 2 82796 2.41558E-5 41398 0 NA
12-9254133-T-C p.Leu468Leu synonymous A2M 1 82802 1.2077E-5 41401 0 NA
12-9254135-G-T p.Leu468Ile missense A2M 2 82810 2.41517E-5 41405 0 1.08069E-4
12-9254139-A-G n.348+7T>C splice_region A2M 1 82816 1.2075E-5 41408 0 NA
12-9254153-C-T p.Glu462Lys missense A2M 57 82814 6.88289E-4 41407 0 0.00181506
12-9254159-G-A p.His460Tyr missense A2M 2 82822 2.41482E-5 41411 0 4.01216E-6
12-9254164-A-G p.Phe458Ser missense A2M 1 82830 1.20729E-5 41415 0 8.31642E-6
12-9254172-G-T p.Ser455Arg missense A2M 2 82834 2.41447E-5 41417 0 3.1837E-5
12-9254176-G-C p.Pro454Arg missense A2M 1 82830 1.20729E-5 41415 0 NA
12-9254183-A-G p.Phe452Leu missense A2M 1 82828 1.20732E-5 41414 0 8.32376E-6
12-9254187-A-G p.Leu450Leu synonymous A2M 10 82832 1.20726E-4 41416 0 9.55414E-5
12-9254192-A-G p.Tyr449His missense A2M 4 82832 4.82905E-5 41416 0 1.20383E-5
12-9254204-G-A p.His445Tyr missense A2M 33 82834 3.98387E-4 41417 0 1.27372E-4
12-9254204-G-C p.His445Asp missense A2M 1 82836 1.2072E-5 41418 0 NA
12-9254208-C-T p.Glu443Glu synonymous A2M 95 82826 0.00114698 41413 0 0.0120846
12-9254209-T-C p.Glu443Gly missense A2M 2 82832 2.41453E-5 41416 0 8.35171E-6
12-9254226-C-T p.Val437Val synonymous A2M 653 82822 0.00788438 41411 20 0.0168153
12-9254232-C-T p.Gln435Gln synonymous A2M 2 82822 2.41482E-5 41411 0 8.02961E-6
12-9254240-C-T p.Gly433Ser missense A2M 1 82820 1.20744E-5 41410 0 3.18532E-5
12-9254241-G-A p.Tyr432Tyr synonymous A2M 4908 82630 0.0593973 41315 168 0.085
12-9254254-C-T p.Arg428His missense A2M 93 82790 0.00112332 41395 0 0.00207072
12-9254257-T-A p.Asp427Val missense A2M 3 82780 3.62406E-5 41390 0 9.77986E-5
12-9254262-G-A p.Tyr425Tyr synonymous A2M 39 82748 4.7131E-4 41374 0 3.06541E-4
12-9256838-A-G p.Val421Val synonymous A2M 3 82546 3.63434E-5 41273 0 9.4418E-6
12-9256849-A-G p.Ser418Pro missense A2M 25 82592 3.02693E-4 41296 0 2.18666E-4
12-9256850-G-A p.Thr417Thr synonymous A2M 1 82596 1.21071E-5 41298 0 9.17701E-6
12-9256859-A-C p.Val414Val synonymous A2M 1 82626 1.21027E-5 41313 0 NA
12-9256862-A-T p.Asn413Lys missense A2M 1 82640 1.21007E-5 41320 0 NA
12-9256863-T-C p.Asn413Ser missense A2M 1 82648 1.20995E-5 41324 0 4.03506E-6
12-9256867-T-C p.Thr412Ala missense A2M 1 82656 1.20983E-5 41328 0 6.25E-4
12-9256872-T-G p.Asn410Thr missense A2M 2 82674 2.41914E-5 41337 0 3.22599E-5
12-9256877-A-G p.Ser408Ser synonymous A2M 1 82676 1.20954E-5 41338 0 9.17044E-6
12-9256896-T-C p.His402Arg missense A2M 5 82704 6.04566E-5 41352 0 5.82547E-5
12-9256899-T-G p.Glu401Ala missense A2M 2 82700 2.41838E-5 41350 0 9.55475E-5
12-9256902-T-A p.Asp400Val missense A2M 1 82702 1.20916E-5 41351 0 NA
12-9256904-C-T p.Thr399Thr synonymous A2M 4 82700 4.83676E-5 41350 0 6.37024E-5
12-9256914-T-C p.Asn396Ser missense A2M 1 82694 1.20928E-5 41347 0 4.06441E-6
12-9256945-T-A p.Ile386Phe missense A2M 1 82696 1.20925E-5 41348 0 3.18431E-5
12-9256946-G-A p.Phe385Phe synonymous A2M 59 82700 7.13422E-4 41350 0 0.00124188
12-9256948-A-G p.Phe385Leu missense A2M 2 82700 2.41838E-5 41350 0 NA
12-9256952-G-C p.Val383Val synonymous A2M 1 82700 1.20919E-5 41350 0 4.31384E-6
12-9256972-C-T p.Val377Ile missense A2M 96 82624 0.00116189 41312 1 0.00455005
12-9256973-G-A p.Gly376Gly synonymous A2M 3 82628 3.63073E-5 41314 0 9.55536E-5
12-9256992-C-T p.Arg370His missense A2M 5 82538 6.05782E-5 41269 0 6.25E-4
12-9256993-G-A p.Arg370Cys missense A2M 2 82520 2.42365E-5 41260 0 6.67408E-5
12-9258834-G-C p.Gln368Glu missense+splice_region A2M 14 82538 1.69619E-4 41269 0 5.73614E-4
12-9258840-A-G p.Phe366Leu missense A2M 3 82576 3.63302E-5 41288 0 3.18492E-5
12-9258857-C-T p.Arg360Gln missense A2M 769 82618 0.0093079 41309 39 0.0171449
12-9258858-G-A p.Arg360* stop_gained A2M 4 82632 4.84074E-5 41316 0 2.80958E-5
12-9258863-T-C p.His358Arg missense A2M 47 82656 5.68622E-4 41328 0 0.00704935
12-9258868-G-A p.Asp356Asp synonymous A2M 1 82646 1.20998E-5 41323 0 NA
12-9258910-T-A p.Glu342Asp missense A2M 2 82600 2.42131E-5 41300 0 3.1839E-5
12-9258921-G-T p.Gln339Lys missense A2M 3 82578 3.63293E-5 41289 0 2.48797E-5
12-9258933-A-G p.Leu335Leu synonymous A2M 1 82556 1.2113E-5 41278 0 8.30606E-6
12-9258946-A-G c.995-5T>C splice_region A2M 7 82516 8.4832E-5 41258 0 NA
12-9259092-CCTT-C p.Glu329del disruptive_inframe_deletion A2M 2 82468 2.42518E-5 41234 0 NA
12-9259116-G-T p.Thr322Asn missense A2M 3 82518 3.63557E-5 41259 0 3.38593E-5
12-9259122-AG-A p.Leu320fs frameshift A2M 1 82514 1.21192E-5 41257 0 3.18512E-5
12-9259138-C-T p.Glu315Lys missense A2M 1 82496 1.21218E-5 41248 0 NA
12-9259138-C-A p.Glu315* stop_gained A2M 1 82496 1.21218E-5 41248 0 3.18532E-5
12-9259145-C-T p.Lys312Lys synonymous A2M 2 82486 2.42465E-5 41243 1 NA
12-9259149-A-T p.Leu311Gln missense A2M 2 82470 2.42512E-5 41235 0 4.47547E-6
12-9259164-G-T p.Thr306Asn missense A2M 2 82428 2.42636E-5 41214 0 6.36983E-5
12-9259165-T-A p.Thr306Ser missense A2M 1 82428 1.21318E-5 41214 0 NA
12-9259185-C-T p.Cys299Tyr missense A2M 10 82302 1.21504E-4 41151 0 7.03956E-5
12-9260121-T-C p.Gln293Arg missense+splice_region A2M 20 82724 2.41768E-4 41362 0 0.001875
12-9260127-C-T p.Ser291Asn missense A2M 2 82732 2.41744E-5 41366 0 4.0132E-6
12-9260133-TTC-T p.Lys289fs frameshift A2M 2 82726 2.41762E-5 41363 0 NA
12-9260161-C-T p.Gly280Ser missense A2M 1 82718 1.20893E-5 41359 0 1.20369E-5
12-9260162-G-A p.His279His synonymous A2M 2 82712 2.41803E-5 41356 0 3.31433E-5
12-9260164-G-T p.His279Asn missense A2M 3 82712 3.62704E-5 41356 0 NA
12-9260166-C-T p.Cys278Tyr missense A2M 1 82714 1.20899E-5 41357 0 NA
12-9260170-C-T p.Asp277Asn missense A2M 216 82700 0.00261185 41350 2 0.00551096
12-9260171-G-A p.Ser276Ser synonymous A2M 13 82702 1.57191E-4 41351 0 1.76545E-4
12-9260177-G-A p.Asp274Asp synonymous A2M 127 82710 0.00153549 41355 1 0.00100705
12-9260180-A-ACTATACTTTTTG p.Ser273_Asp274insLysLysTyrSer disruptive_inframe_insertion A2M 1 82716 1.20896E-5 41358 0 NA
12-9260183-A-G p.Tyr272Tyr synonymous A2M 1 82708 1.20907E-5 41354 0 4.01136E-6
12-9260199-C-G p.Ser267Thr missense A2M 3 82706 3.62731E-5 41353 0 NA
12-9260210-A-G p.His263His synonymous A2M 1 82678 1.20951E-5 41339 0 4.01078E-6
12-9260217-G-A p.Pro261Leu missense A2M 255 82674 0.0030844 41337 3 0.00754865
12-9260232-T-C p.Tyr256Cys missense A2M 1 82648 1.20995E-5 41324 0 NA
12-9260235-G-A p.Thr255Ile missense A2M 1 82654 1.20986E-5 41327 0 4.01307E-6
12-9261931-T-C p.Val248Val synonymous A2M 3 82530 3.63504E-5 41265 0 3.18471E-5
12-9261942-C-T p.Glu245Lys missense A2M 2 82556 2.4226E-5 41278 0 2.66856E-5
12-9261949-C-A p.Leu242Phe missense A2M 15 82574 1.81655E-4 41287 0 0.00100705
12-9261953-A-T p.Ile241Asn missense A2M 1 82580 1.21095E-5 41290 0 4.02266E-6
12-9261972-C-A p.Val235Leu missense A2M 5 82620 6.0518E-5 41310 0 3.59157E-5
12-9261973-T-A p.Thr234Thr synonymous A2M 3 82618 3.63117E-5 41309 0 NA
12-9261983-A-G p.Val231Ala missense A2M 1 82632 1.21018E-5 41316 0 NA
12-9261986-T-C p.Glu230Gly missense A2M 3 82634 3.63047E-5 41317 0 4.03515E-6
12-9261989-A-G p.Phe229Ser missense A2M 1 82626 1.21027E-5 41313 0 9.28678E-6
12-9262457-C-T c.673+6G>A splice_region A2M 1 82982 1.20508E-5 41491 0 NA
12-9262464-A-AAAT p.Glu223_Phe224insLeu disruptive_inframe_insertion A2M 1 82994 1.20491E-5 41497 0 4.21994E-6
12-9262475-C-T p.Val221Met missense A2M 4 83026 4.81777E-5 41513 0 1.16086E-4
12-9262490-C-T p.Glu216Lys missense A2M 1 83248 1.20123E-5 41624 0 NA
12-9262494-C-T p.Arg214Arg synonymous A2M 5 83264 6.005E-5 41632 0 1.65481E-5
12-9262520-C-G p.Val206Leu missense A2M 1 83258 1.20109E-5 41629 0 3.18451E-5
12-9262525-T-TTG p.Lys204fs frameshift A2M 1 83256 1.20111E-5 41628 0 NA
12-9262557-G-A p.Pro193Pro synonymous A2M 1 83178 1.20224E-5 41589 0 8.27842E-6
12-9262559-G-A p.Pro193Ser missense A2M 1 83166 1.20241E-5 41583 0 9.55475E-5
12-9262565-A-G p.Ser191Pro missense A2M 1 83146 1.2027E-5 41573 0 NA
12-9262584-C-T p.Glu184Glu synonymous A2M 1 83092 1.20349E-5 41546 0 NA
12-9262586-C-G p.Glu184Gln missense A2M 1 83082 1.20363E-5 41541 0 1.65684E-5
12-9262594-A-G p.Phe181Ser missense A2M 3 83042 3.61263E-5 41521 0 8.01507E-6
12-9262595-A-C p.Phe181Val missense A2M 4 83048 4.81649E-5 41524 0 NA
12-9262595-A-G p.Phe181Leu missense A2M 1 83048 1.20412E-5 41524 0 8.28734E-6
12-9262597-C-T p.Ser180Asn missense A2M 1 83038 1.20427E-5 41519 0 NA
12-9262601-G-C p.Gln179Glu missense A2M 2 83044 2.40836E-5 41522 0 NA
12-9262611-G-A p.Ile175Ile synonymous A2M 2 83010 2.40935E-5 41505 0 6.47668E-5
12-9262615-C-T p.Arg174His missense A2M 6 82982 7.23048E-5 41491 0 5.03525E-4
12-9262632-C-G c.505-1G>C splice_acceptor A2M 1 82860 1.20685E-5 41430 0 NA
12-9262933-G-A c.484-3C>T splice_region A2M 3 79570 3.77027E-5 39785 0 NA
12-9262935-A-C c.484-5T>G splice_region A2M 1 79554 1.25701E-5 39777 0 NA
12-9262935-A-G c.484-5T>C splice_region A2M 2 79554 2.51402E-5 39777 0 3.18715E-5
12-9264752-C-T c.483+3G>A splice_region A2M 1 82546 1.21145E-5 41273 0 NA
12-9264757-A-G p.Leu161Leu splice_region+synonymous A2M 1 82574 1.21103E-5 41287 0 8.30303E-6
12-9264759-T-A p.Glu160Val missense A2M 10 82578 1.21098E-4 41289 0 2.22973E-4
12-9264764-C-A p.Leu158Leu synonymous A2M 1 82582 1.21092E-5 41291 0 4.01581E-6
12-9264767-G-C p.Pro157Pro synonymous A2M 1 82580 1.21095E-5 41290 0 1.65992E-5
12-9264793-C-T p.Val149Ile missense A2M 2 82590 2.4216E-5 41295 0 4.01452E-6
12-9264798-C-T p.Arg147His missense A2M 7 82590 8.4756E-5 41295 0 5.03525E-4
12-9264799-G-A p.Arg147Cys missense A2M 5 82598 6.05342E-5 41299 0 3.212E-5
12-9264968-C-G c.430+5G>C splice_region A2M 1 82852 1.20697E-5 41426 0 NA
12-9264973-C-A p.Val144Leu missense+splice_region A2M 1 82882 1.20653E-5 41441 0 NA
12-9264978-TGCCC-T p.Gly141fs frameshift A2M 1 82896 1.20633E-5 41448 0 NA
12-9264984-G-GTA p.Pro140fs frameshift A2M 1 82892 1.20639E-5 41446 0 NA
12-9264985-G-GATTGATTTGTAGATTGA p.Pro140fs frameshift A2M 1 82894 1.20636E-5 41447 0 NA
12-9264992-G-T p.Ile137Ile synonymous A2M 4 82900 4.82509E-5 41450 0 2.80836E-5
12-9265008-T-C p.Gln132Arg missense A2M 1 82884 1.20651E-5 41442 0 NA
12-9265009-G-C p.Gln132Glu missense A2M 1 82876 1.20662E-5 41438 0 NA
12-9265016-G-C p.Val129Val synonymous A2M 723 82868 0.00872472 41434 7 0.0120846
12-9265022-A-T p.Ser127Arg missense A2M 3 82886 3.61943E-5 41443 0 1.66116E-5
12-9265039-C-T p.Val122Ile missense A2M 1 82834 1.20723E-5 41417 0 NA
12-9265043-C-T p.Val120Val synonymous A2M 25 82830 3.01823E-4 41415 0 5.09522E-4
12-9265064-T-G p.Glu113Asp missense A2M 1 82786 1.20793E-5 41393 0 NA
12-9265081-T-C p.Lys108Glu missense A2M 3 82756 3.62511E-5 41378 0 8.03245E-6
12-9265086-T-C p.Gln106Arg missense A2M 4 82764 4.83302E-5 41382 0 3.18552E-5
12-9265087-G-C p.Gln106Glu missense A2M 2 82764 2.41651E-5 41382 0 NA
12-9265090-C-G p.Val105Leu missense A2M 5 82754 6.042E-5 41377 0 3.33856E-5
12-9265099-A-G p.Phe102Leu missense A2M 107 82728 0.0012934 41364 1 0.00299401
12-9265100-C-G p.Met101Ile missense A2M 1 82728 1.20878E-5 41364 0 NA
12-9265105-C-T p.Val100Ile missense A2M 1 82724 1.20884E-5 41362 0 8.36372E-6
12-9265112-A-G p.Asn97Asn synonymous A2M 1 82720 1.2089E-5 41360 0 4.01761E-6
12-9265113-T-G p.Asn97Thr missense A2M 1 82718 1.20893E-5 41359 0 NA
12-9265131-A-G p.Val91Ala missense+splice_region A2M 1 82674 1.20957E-5 41337 0 8.04233E-6
12-9265284-T-G n.484A>C splice_region A2M 1 64418 1.55236E-5 32209 0 NA
12-9265949-C-T c.270+7G>A splice_region A2M 1 83184 1.20215E-5 41592 0 1.66708E-5
12-9265958-C-T p.Ala90Thr missense+splice_region A2M 12 83210 1.44213E-4 41605 0 6.63196E-5
12-9265959-G-A p.Phe89Phe synonymous A2M 3 83226 3.60464E-5 41613 0 3.31044E-5
12-9265964-C-T p.Ala88Thr missense A2M 1 83236 1.2014E-5 41618 0 4.13237E-5
12-9265965-G-A p.Val87Val synonymous A2M 2 83244 2.40258E-5 41622 0 6.39264E-5
12-9265974-G-A p.Leu84Leu synonymous A2M 35 83252 4.2041E-4 41626 0 2.72237E-4
12-9265979-C-T p.Val83Ile missense A2M 2 83258 2.40217E-5 41629 0 7.42231E-5
12-9265980-G-A p.Asp82Asp synonymous A2M 3 83266 3.60291E-5 41633 0 5.17396E-5
12-9265986-C-G p.Glu80Asp missense A2M 1 83274 1.20085E-5 41637 0 8.24389E-6
12-9265986-C-T p.Glu80Glu synonymous A2M 2 83274 2.40171E-5 41637 0 3.97956E-6
12-9265988-C-T p.Glu80Lys missense A2M 1 83272 1.20088E-5 41636 0 NA
12-9265988-C-A p.Glu80* stop_gained A2M 1 83272 1.20088E-5 41636 0 NA
12-9265990-G-A p.Ala79Val missense A2M 2 83282 2.40148E-5 41641 0 3.19285E-5
12-9266019-TC-T p.Gly69fs frameshift A2M 3 83324 3.6004E-5 41662 0 NA
12-9266020-C-A p.Gly69Val missense A2M 1 83318 1.20022E-5 41659 0 NA
12-9266035-A-G p.Leu64Ser missense A2M 4 83330 4.80019E-5 41665 0 8.23764E-6
12-9266056-G-A p.Thr57Ile missense A2M 5 83314 6.00139E-5 41657 0 2.90339E-4
12-9266060-C-T p.Glu56Lys missense A2M 1 83310 1.20034E-5 41655 0 3.97735E-6
12-9266073-C-G p.Leu51Leu synonymous A2M 1 83316 1.20025E-5 41658 0 NA
12-9266086-C-G p.Gly47Ala missense A2M 1 83306 1.20039E-5 41653 0 NA
12-9266098-G-T p.Thr43Asn missense A2M 5 83314 6.00139E-5 41657 0 3.18613E-5
12-9266121-G-T p.Val35Val synonymous A2M 1 83298 1.20051E-5 41649 0 NA
12-9266129-C-A p.Val33Phe missense A2M 1 83276 1.20083E-5 41638 0 1.59698E-5
12-9266136-C-CAG p.Gln30fs frameshift A2M 1 83268 1.20094E-5 41634 0 NA
12-9266137-T-TA p.Gln30fs frameshift A2M 1 83260 1.20106E-5 41630 0 NA
12-9266144-G-T c.87-5C>A splice_region A2M 1 83242 1.20132E-5 41621 0 NA
12-9268360-G-A p.Pro29Leu missense+splice_region A2M 4 82478 4.84978E-5 41239 0 8.28514E-6
12-9268369-G-A p.Ser26Phe missense A2M 1 82548 1.21142E-5 41274 0 6.62734E-5
12-9268370-A-C p.Ser26Ala missense A2M 2 82554 2.42266E-5 41277 0 4.0132E-6
12-9268376-AGGCGTCTGTG-A p.Thr21fs frameshift A2M 2 82576 2.42201E-5 41288 0 NA
12-9268379-C-T p.Ala23Thr missense A2M 10 82586 1.21086E-4 41293 0 0.00125
12-9268393-A-C p.Leu18Arg missense A2M 132 82668 0.00159675 41334 0 0.00156524
12-9268409-G-T p.Leu13Ile missense A2M 2 82708 2.41815E-5 41354 0 NA
12-9268467-A-T c.-17-5T>A splice_region A2M 1 82508 1.212E-5 41254 0 NA
12-9268507-T-A c.-62A>T 5_prime_UTR_premature_start_codon_gain A2M 8 81350 9.83405E-5 40675 0 6.25782E-4
12-9268565-G-C c.-120C>G 5_prime_UTR_premature_start_codon_gain A2M 5 73206 6.83004E-5 36603 0 NA
12-9268580-C-G c.-135G>C 5_prime_UTR_premature_start_codon_gain A2M 1 69068 1.44785E-5 34534 0 NA
12-9268723-CTT-C c.-19_-18delAA splice_region A2M 26 18334 0.00141813 9167 1 0.00200599