ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2S by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 560
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205 0.00220
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00168
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00124
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00088
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00060
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00050
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) rs144681826 0.00040
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00034
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) rs138327042 0.00031
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) rs146266992 0.00028
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00028
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00027
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00018
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00017
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00017
NM_002180.3(IGHMBP2):c.87-11G>C rs371158900 0.00016
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00015
NM_002180.3(IGHMBP2):c.257-11T>C rs372835712 0.00015
NM_002180.3(IGHMBP2):c.2612-16C>T rs200337900 0.00015
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) rs374632016 0.00013
NM_002180.3(IGHMBP2):c.712-10C>T rs750936839 0.00012
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949 0.00011
NM_002180.3(IGHMBP2):c.2612-14C>T rs200940488 0.00011
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=) rs1457468543 0.00011
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672 0.00010
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709 0.00009
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00009
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00009
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915 0.00008
NM_002180.3(IGHMBP2):c.2612-13G>A rs369494910 0.00008
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312 0.00007
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556 0.00005
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=) rs143134727 0.00005
NM_002180.3(IGHMBP2):c.1633-14G>A rs368126775 0.00005
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) rs1337346956 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00005
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080 0.00005
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=) rs144565481 0.00005
NM_002180.3(IGHMBP2):c.1061-15C>T rs369119507 0.00004
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=) rs1566439488 0.00004
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=) rs753290152 0.00004
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631 0.00004
NM_002180.3(IGHMBP2):c.1538-19G>A rs199911239 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=) rs922075405 0.00004
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=) rs780238088 0.00004
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=) rs145365851 0.00004
NM_002180.3(IGHMBP2):c.256+8C>T rs760649755 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=) rs898463829 0.00004
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=) rs142128884 0.00004
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=) rs761060846 0.00004
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=) rs1201956816 0.00004
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00004
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=) rs529978266 0.00003
NM_002180.3(IGHMBP2):c.1235+7C>T rs776813722 0.00003
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.1418+12G>A rs946450534 0.00003
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=) rs780440710 0.00003
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=) rs748530497 0.00003
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483 0.00003
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=) rs188719450 0.00003
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=) rs762291036 0.00003
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00003
NM_002180.3(IGHMBP2):c.257-10G>C rs1215129512 0.00003
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=) rs753346884 0.00003
NM_002180.3(IGHMBP2):c.449+17G>A rs146594265 0.00003
NM_002180.3(IGHMBP2):c.548-19G>A rs1052895374 0.00003
NM_002180.3(IGHMBP2):c.711+8G>A rs1403938196 0.00003
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023 0.00003
NM_002180.3(IGHMBP2):c.1060+11G>A rs761888334 0.00002
NM_002180.3(IGHMBP2):c.1061-19G>A rs775305272 0.00002
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=) rs749110357 0.00002
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839 0.00002
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=) rs758501779 0.00002
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) rs201964221 0.00002
NM_002180.3(IGHMBP2):c.1538-4C>G rs757915735 0.00002
NM_002180.3(IGHMBP2):c.1632+13C>T rs759992553 0.00002
NM_002180.3(IGHMBP2):c.1756+13C>T rs568649635 0.00002
NM_002180.3(IGHMBP2):c.1756+17A>G rs757390726 0.00002
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=) rs1343388202 0.00002
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=) rs1235731970 0.00002
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=) rs755468547 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00002
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=) rs890113569 0.00002
NM_002180.3(IGHMBP2):c.639T>C (p.His213=) rs764495455 0.00002
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=) rs1046845478 0.00002
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) rs768231851 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=) rs773013486 0.00001
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=) rs1419120176 0.00001
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=) rs1247103419 0.00001
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=) rs376473360 0.00001
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=) rs137852670 0.00001
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226 0.00001
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=) rs570558952 0.00001
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=) rs35995205 0.00001
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=) rs1176740254 0.00001
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=) rs369809006 0.00001
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490 0.00001
NM_002180.3(IGHMBP2):c.1235+894C>T rs1202430946 0.00001
NM_002180.3(IGHMBP2):c.1235+9C>T rs553889213 0.00001
NM_002180.3(IGHMBP2):c.1236-4G>A rs746867102 0.00001
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=) rs1345673085 0.00001
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=) rs759035035 0.00001
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=) rs368706911 0.00001
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln) rs752225738 0.00001
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=) rs1209510520 0.00001
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=) rs1321342951 0.00001
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=) rs1302845532 0.00001
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036 0.00001
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=) rs1036050370 0.00001
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=) rs1368846781 0.00001
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=) rs1433957850 0.00001
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=) rs781498577 0.00001
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228 0.00001
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=) rs756513980 0.00001
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164 0.00001
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=) rs1244801084 0.00001
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=) rs1210997043 0.00001
NM_002180.3(IGHMBP2):c.1537+9G>C rs1859419581 0.00001
NM_002180.3(IGHMBP2):c.1538-5T>G rs747717257 0.00001
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=) rs1168656232 0.00001
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959 0.00001
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=) rs1318640024 0.00001
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618 0.00001
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=) rs200269024 0.00001
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=) rs747822666 0.00001
NM_002180.3(IGHMBP2):c.1632+16T>G rs2496062364 0.00001
NM_002180.3(IGHMBP2):c.1633-15C>T rs144167929 0.00001
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=) rs746048688 0.00001
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=) rs763399210 0.00001
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=) rs200081534 0.00001
NM_002180.3(IGHMBP2):c.1756+8G>T rs1441125557 0.00001
NM_002180.3(IGHMBP2):c.1757-6T>C rs1594455341 0.00001
NM_002180.3(IGHMBP2):c.1757-9C>T rs1319555836 0.00001
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=) rs1388384906 0.00001
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=) rs758318773 0.00001
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) rs1859531837 0.00001
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=) rs779008961 0.00001
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=) rs752907111 0.00001
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=) rs778151623 0.00001
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519 0.00001
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=) rs777663590 0.00001
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=) rs746766846 0.00001
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=) rs1340282313 0.00001
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=) rs909093295 0.00001
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=) rs752117472 0.00001
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=) rs1349360990 0.00001
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=) rs1215678700 0.00001
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=) rs763818374 0.00001
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=) rs781002308 0.00001
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=) rs1429055770 0.00001
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=) rs1165471451 0.00001
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602 0.00001
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=) rs1456673571 0.00001
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=) rs1005880496 0.00001
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=) rs1218404642 0.00001
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) rs1057524376 0.00001
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=) rs756948501 0.00001
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404 0.00001
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=) rs563460158 0.00001
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057 0.00001
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=) rs767165293 0.00001
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588 0.00001
NM_002180.3(IGHMBP2):c.256+7del rs1381688078 0.00001
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=) rs1463886387 0.00001
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=) rs1859576703 0.00001
NM_002180.3(IGHMBP2):c.2611+20C>T rs1439375352 0.00001
NM_002180.3(IGHMBP2):c.2611+9A>G rs778897070 0.00001
NM_002180.3(IGHMBP2):c.2612-11G>A rs1859624246 0.00001
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=) rs556654138 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=) rs932085759 0.00001
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372 0.00001
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=) rs1234917202 0.00001
NM_002180.3(IGHMBP2):c.2784+15C>A rs372512149 0.00001
NM_002180.3(IGHMBP2):c.2784+8G>A rs939288295 0.00001
NM_002180.3(IGHMBP2):c.2785-13G>C rs756619770 0.00001
NM_002180.3(IGHMBP2):c.2785-14T>G rs749106508 0.00001
NM_002180.3(IGHMBP2):c.2785-19A>G rs775213232 0.00001
NM_002180.3(IGHMBP2):c.2785-8C>T rs1456866628 0.00001
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015 0.00001
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=) rs752860280 0.00001
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00001
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=) rs752024072 0.00001
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=) rs746988290 0.00001
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=) rs749364778 0.00001
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) rs761315649 0.00001
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=) rs754380977 0.00001
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=) rs761196482 0.00001
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=) rs756861635 0.00001
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=) rs747166731 0.00001
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=) rs1272309665 0.00001
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=) rs577941690 0.00001
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=) rs752694569 0.00001
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=) rs1381446523 0.00001
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=) rs1338970087 0.00001
NM_002180.3(IGHMBP2):c.547+11C>T rs1460632503 0.00001
NM_002180.3(IGHMBP2):c.547+15G>A rs776573019 0.00001
NM_002180.3(IGHMBP2):c.547+19T>C rs1858298712 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.548-13G>T rs1198884720 0.00001
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=) rs1442536361 0.00001
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=) rs780961121 0.00001
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=) rs761677597 0.00001
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=) rs200932905 0.00001
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=) rs755634860 0.00001
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=) rs1168042239 0.00001
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=) rs779554916 0.00001
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=) rs142485663 0.00001
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=) rs754581177 0.00001
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=) rs764462472 0.00001
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=) rs146386692 0.00001
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=) rs752373799 0.00001
NM_002180.3(IGHMBP2):c.86+19G>T rs1245721716 0.00001
NM_002180.3(IGHMBP2):c.87-19A>G rs183650590 0.00001
NM_002180.3(IGHMBP2):c.87-9G>A rs562446187 0.00001
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=) rs1240899173 0.00001
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=) rs181492004 0.00001
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=) rs750403781 0.00001
NM_002180.3(IGHMBP2):c.912+10A>G rs776941252 0.00001
NM_002180.3(IGHMBP2):c.913-10T>C rs753653938 0.00001
NM_002180.3(IGHMBP2):c.913-19C>G rs1858723305 0.00001
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537 0.00001
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=) rs1428644615 0.00001
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=) rs2495994334
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=) rs2495994350
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=) rs757319859
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=) rs757319859
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=) rs2495994512
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=) rs1428895624
NM_002180.3(IGHMBP2):c.1060+18T>A rs2495994979
NM_002180.3(IGHMBP2):c.1060+7G>A rs2495994908
NM_002180.3(IGHMBP2):c.1060+8G>C rs201147313
NM_002180.3(IGHMBP2):c.1060+9G>A rs189297244
NM_002180.3(IGHMBP2):c.1061-16T>C rs762825951
NM_002180.3(IGHMBP2):c.1061-17C>T
NM_002180.3(IGHMBP2):c.1061-20C>A rs375085896
NM_002180.3(IGHMBP2):c.1061-20C>T rs375085896
NM_002180.3(IGHMBP2):c.1061-7C>T
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=) rs529978266
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=) rs2154006530
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=) rs2496033602
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=) rs145314949
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=) rs2496034118
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=) rs1346976621
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=) rs2496034145
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=) rs2495941438
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=) rs1476873060
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=) rs1476873060
NM_002180.3(IGHMBP2):c.1218C>T (p.Pro406=)
NM_002180.3(IGHMBP2):c.1224A>G (p.Thr408=)
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002180.3(IGHMBP2):c.1235+13T>C rs2496034806
NM_002180.3(IGHMBP2):c.1235+17_1235+25del rs2496034811
NM_002180.3(IGHMBP2):c.1235+18_1235+27del rs2496034836
NM_002180.3(IGHMBP2):c.1235+20_1235+21del rs1224121012
NM_002180.3(IGHMBP2):c.1235+894C>G rs1202430946
NM_002180.3(IGHMBP2):c.1236-17C>T rs2496052361
NM_002180.3(IGHMBP2):c.1236-19T>A rs1859384779
NM_002180.3(IGHMBP2):c.1236-4G>T rs746867102
NM_002180.3(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1236-6G>T rs201538340
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=) rs756287157
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=) rs1168463338
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=) rs1306883563
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=) rs749343954
NM_002180.3(IGHMBP2):c.1275C>T (p.Arg425=)
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=) rs1203031897
NM_002180.3(IGHMBP2):c.1296G>C (p.Ala432=)
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=) rs1858064641
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=) rs763751517
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=) rs757100442
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=) rs1310664438
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=) rs2154008612
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=) rs1594451498
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=) rs2496054390
NM_002180.3(IGHMBP2):c.1418+13G>T rs1450898542
NM_002180.3(IGHMBP2):c.1419-10T>C rs761701926
NM_002180.3(IGHMBP2):c.1419-12C>T
NM_002180.3(IGHMBP2):c.1419-17C>T rs1566443635
NM_002180.3(IGHMBP2):c.1419-8T>C rs1342803626
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=) rs2496056757
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=) rs781498577
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=) rs2154008650
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=) rs770256127
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=) rs145226920
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=) rs767709025
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=) rs2496057403
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1537+10C>T rs776457480
NM_002180.3(IGHMBP2):c.1537+13G>A rs751880
NM_002180.3(IGHMBP2):c.1537+15A>C
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405
NM_002180.3(IGHMBP2):c.1537+18T>C rs2496057837
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289
NM_002180.3(IGHMBP2):c.1538-20C>G rs147148090
NM_002180.3(IGHMBP2):c.1538-4C>T rs757915735
NM_002180.3(IGHMBP2):c.1538-7C>A rs1237331506
NM_002180.3(IGHMBP2):c.1538-9T>A rs2496061153
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1575G>A (p.Leu525=)
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=) rs1461885178
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=) rs2154008703
NM_002180.3(IGHMBP2):c.1632+12T>C rs2496062322
NM_002180.3(IGHMBP2):c.1632+15T>A rs1322539313
NM_002180.3(IGHMBP2):c.1632+19G>A rs1313773250
NM_002180.3(IGHMBP2):c.1632+7G>A rs1440674557
NM_002180.3(IGHMBP2):c.1632+8G>A rs2496062285
NM_002180.3(IGHMBP2):c.1633-12C>G rs1179336384
NM_002180.3(IGHMBP2):c.1633-7G>A
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=) rs2496065557
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) rs2154006537
NM_002180.3(IGHMBP2):c.1692C>G (p.Val564=)
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=) rs2154008770
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=) rs764732020
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=) rs2495942045
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=) rs766884923
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=) rs2496066416
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=) rs765991240
NM_002180.3(IGHMBP2):c.1756+16C>T
NM_002180.3(IGHMBP2):c.1756+7A>G rs2496066635
NM_002180.3(IGHMBP2):c.1757-13T>C rs2496069767
NM_002180.3(IGHMBP2):c.1757-17C>T rs2496069744
NM_002180.3(IGHMBP2):c.1757-19C>T rs760163179
NM_002180.3(IGHMBP2):c.1757-4G>A rs753421132
NM_002180.3(IGHMBP2):c.1757-4G>T
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=) rs776499527
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=) rs746014167
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=) rs376736864
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=) rs1483813825
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=) rs2496070318
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=) rs768631087
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=) rs577924460
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=) rs2496070528
NM_002180.3(IGHMBP2):c.189G>A (p.Leu63=)
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) rs1555247971
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=) rs1858185956
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=) rs2496071555
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=) rs1859535346
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp) rs2154008864
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=) rs141375426
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=) rs540534910
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=) rs773543257
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=) rs1342765347
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=) rs1289494832
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=) rs2496073614
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=) rs2496073698
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=) rs2154008875
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=) rs2496074031
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=) rs2496074336
NM_002180.3(IGHMBP2):c.2286C>G (p.Ala762=)
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=) rs2496074589
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=) rs546382
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=) rs746660193
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) rs757779436
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=) rs2496075647
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=) rs2496075779
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=) rs1165471451
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=) rs915018099
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=) rs2154008918
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=) rs2154008920
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=) rs1241285720
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=) rs2496076207
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=) rs756948501
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=) rs1859570478
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.3(IGHMBP2):c.256+14G>A rs2495942919
NM_002180.3(IGHMBP2):c.256+17C>T rs2495942947
NM_002180.3(IGHMBP2):c.256+20G>A rs2495942984
NM_002180.3(IGHMBP2):c.2565C>G (p.Ala855=)
NM_002180.3(IGHMBP2):c.257-11T>G rs372835712
NM_002180.3(IGHMBP2):c.257-15T>G
NM_002180.3(IGHMBP2):c.257-17A>C rs2495949554
NM_002180.3(IGHMBP2):c.257-4G>A rs1484354967
NM_002180.3(IGHMBP2):c.257-4G>C
NM_002180.3(IGHMBP2):c.257-5T>C rs2154006685
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=) rs1859576703
NM_002180.3(IGHMBP2):c.2611+12A>G rs2154008964
NM_002180.3(IGHMBP2):c.2611+14dup rs2496077383
NM_002180.3(IGHMBP2):c.2611+17G>C rs2496077406
NM_002180.3(IGHMBP2):c.2611+17_2611+19del rs752300522
NM_002180.3(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.3(IGHMBP2):c.2612-10T>C rs2154009107
NM_002180.3(IGHMBP2):c.2612-12G>A
NM_002180.3(IGHMBP2):c.2612-15dup rs2496080998
NM_002180.3(IGHMBP2):c.2612-20G>A rs760287081
NM_002180.3(IGHMBP2):c.2612-4C>T rs1859624339
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=) rs1858275561
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=) rs753346884
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=) rs764107109
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=) rs2495949724
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=) rs1594458491
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=) rs772280279
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=) rs917586167
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=) rs1859632484
NM_002180.3(IGHMBP2):c.2784+7C>G rs58094037
NM_002180.3(IGHMBP2):c.2785-13G>T rs756619770
NM_002180.3(IGHMBP2):c.2785-4C>G rs1253746557
NM_002180.3(IGHMBP2):c.2785-4C>T rs1253746557
NM_002180.3(IGHMBP2):c.2785-6C>T rs1566449464
NM_002180.3(IGHMBP2):c.2785-7_2785-4del rs2496085934
NM_002180.3(IGHMBP2):c.2785-9C>T rs1859669488
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=) rs761854167
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=) rs965426447
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=) rs1859671723
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=) rs557641477
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=) rs2496086399
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=) rs2496086517
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=) rs2495949848
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=) rs754721380
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=) rs2496086739
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=) rs2154009296
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=) rs149133485
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=) rs773684186
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=) rs865849237
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=) rs2496087146
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=) rs2154006693
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=) rs1858067155
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=) rs2495929486
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=) rs772920126
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=) rs2495950768
NM_002180.3(IGHMBP2):c.438G>A (p.Arg146=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.449+13G>A rs2495950929
NM_002180.3(IGHMBP2):c.449+7G>T
NM_002180.3(IGHMBP2):c.449+8G>C rs2495950907
NM_002180.3(IGHMBP2):c.450-17G>C rs776413057
NM_002180.3(IGHMBP2):c.450-4G>A
NM_002180.3(IGHMBP2):c.450-4G>T
NM_002180.3(IGHMBP2):c.450-6T>C
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=) rs752694569
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=) rs2154006722
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=) rs1334447515
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=) rs2495952025
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=) rs2495952058
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=) rs1858295479
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=) rs780311461
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=) rs780311461
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=) rs1338970087
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=) rs779086573
NM_002180.3(IGHMBP2):c.547+20C>G rs778324431
NM_002180.3(IGHMBP2):c.547+20C>T rs778324431
NM_002180.3(IGHMBP2):c.548-12C>T rs1858429648
NM_002180.3(IGHMBP2):c.548-13G>A rs1198884720
NM_002180.3(IGHMBP2):c.548-9C>T rs760807097
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=) rs755103682
NM_002180.3(IGHMBP2):c.552G>T (p.Pro184=)
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=) rs1408189892
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=) rs1460306757
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=) rs141587272
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=) rs1280728139
NM_002180.3(IGHMBP2):c.612G>C (p.Leu204=)
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=) rs2495964744
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=) rs2495964752
NM_002180.3(IGHMBP2):c.711+12A>C rs2154006952
NM_002180.3(IGHMBP2):c.711+15C>T rs963088351
NM_002180.3(IGHMBP2):c.711+16C>T rs2495965530
NM_002180.3(IGHMBP2):c.711+17A>G rs1186155853
NM_002180.3(IGHMBP2):c.712-13T>C rs2495980564
NM_002180.3(IGHMBP2):c.712-18C>T rs757672548
NM_002180.3(IGHMBP2):c.712-5C>T rs1273779717
NM_002180.3(IGHMBP2):c.712-9G>C rs1257775828
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.729C>T (p.Pro243=)
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=) rs985694768
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=) rs1202016348
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=) rs2495981365
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=) rs199619824
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=) rs199619824
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=) rs1393255305
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=) rs2154007218
NM_002180.3(IGHMBP2):c.850T>C (p.Leu284=)
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=) rs147409148
NM_002180.3(IGHMBP2):c.86+7G>A rs527948004
NM_002180.3(IGHMBP2):c.86+9G>A rs2495930125
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=) rs564645287
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=) rs2495982106
NM_002180.3(IGHMBP2):c.87-11G>A rs371158900
NM_002180.3(IGHMBP2):c.87-12G>A rs2495941210
NM_002180.3(IGHMBP2):c.87-13G>C rs779643841
NM_002180.3(IGHMBP2):c.87-14C>G rs375646306
NM_002180.3(IGHMBP2):c.87-18A>G
NM_002180.3(IGHMBP2):c.87-20C>A rs1309712730
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=) rs1304304290
NM_002180.3(IGHMBP2):c.912+11T>C rs373767876
NM_002180.3(IGHMBP2):c.912+13G>A rs2495982658
NM_002180.3(IGHMBP2):c.912+15C>G
NM_002180.3(IGHMBP2):c.912+18T>C rs1858596249
NM_002180.3(IGHMBP2):c.913-12T>A
NM_002180.3(IGHMBP2):c.913-6T>A rs2154007472
NM_002180.3(IGHMBP2):c.913-8C>G rs2495993722
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=) rs2495993762
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=) rs1858724192
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=) rs2495994267

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