ClinVar Miner

List of variants in gene IGHMBP2 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1042
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_002180.3(IGHMBP2):c.1757-18C>A rs77247855 0.00796
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
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.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
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.132C>T (p.Gly44=) rs78807992 0.00130
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031 0.00119
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.1418+11C>T rs201279838 0.00071
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) rs144681826 0.00044
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) rs146266992 0.00028
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) rs138327042 0.00025
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) rs768231851 0.00017
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.2612-16C>T rs200337900 0.00014
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) rs374632016 0.00013
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=) rs1457468543 0.00013
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075 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.1149G>A (p.Ala383=) rs201485072 0.00010
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995 0.00010
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
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.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2612-13G>A rs369494910 0.00009
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148 0.00009
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) rs779639460 0.00009
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) rs756408576 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
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.1633-14G>A rs368126775 0.00008
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) rs139871647 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312 0.00008
NM_002180.3(IGHMBP2):c.548-20C>T rs368802434 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709 0.00007
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 0.00006
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.2668G>A (p.Ala890Thr) rs138607722 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797 0.00006
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556 0.00005
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) rs1337346956 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 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.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.1061-15C>T rs369119507 0.00004
NM_002180.3(IGHMBP2):c.1235+7C>T rs776813722 0.00004
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630 0.00004
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) rs750407517 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 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.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 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.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836 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.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=) rs142128884 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) rs759609027 0.00004
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=) rs1201956816 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) rs772945179 0.00004
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=) rs144565481 0.00004
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1418+12G>A rs946450534 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=) rs780440710 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 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.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) rs920864493 0.00003
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532 0.00003
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=) rs762291036 0.00003
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) rs768670979 0.00003
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785 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.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904 0.00003
NM_002180.3(IGHMBP2):c.87-19A>G rs183650590 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.1065G>A (p.Ala355=) rs529978266 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.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) rs746014167 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) rs761885813 0.00002
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=) rs188719450 0.00002
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=) rs755468547 0.00002
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) rs763014565 0.00002
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) rs765230277 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) rs757006949 0.00002
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932 0.00002
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) rs774483778 0.00002
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=) rs764107109 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.2784+1G>T rs797044803 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=) rs890113569 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080 0.00002
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623 0.00002
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) rs375694606 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.639T>C (p.His213=) rs764495455 0.00002
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) rs745416724 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) rs139497493 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) rs1022216138 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=) rs773013486 0.00001
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) rs1033402228 0.00001
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1061-2A>G rs1424522130 0.00001
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=) rs1247103419 0.00001
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) rs1398038802 0.00001
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) rs760811074 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.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 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.1197C>T (p.Gly399=) rs377631839 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 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.1241C>T (p.Ala414Val) rs1465465295 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350 0.00001
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218 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.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) rs757304363 0.00001
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) rs571142182 0.00001
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) rs149628807 0.00001
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=) rs1209510520 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) rs751446350 0.00001
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=) rs1321342951 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725 0.00001
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=) rs1302845532 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=) rs1368846781 0.00001
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228 0.00001
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) rs201964221 0.00001
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164 0.00001
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=) rs1210997043 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1537+9G>C rs1859419581 0.00001
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=) rs747822666 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) rs768685672 0.00001
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=) rs200081534 0.00001
NM_002180.3(IGHMBP2):c.1756+13C>T rs568649635 0.00001
NM_002180.3(IGHMBP2):c.1756+17A>G rs757390726 0.00001
NM_002180.3(IGHMBP2):c.1756+5G>A rs1352994155 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.175C>T (p.Leu59=) rs1388384906 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) rs1240484547 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995 0.00001
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359 0.00001
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) rs943195178 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=) rs752907111 0.00001
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) rs370166700 0.00001
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) rs1566446312 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439 0.00001
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) rs767422655 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180 0.00001
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) rs1042372226 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) rs1462234845 0.00001
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) rs771844457 0.00001
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) rs1444267409 0.00001
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=) rs777663590 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=) rs909093295 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 0.00001
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) rs1317637789 0.00001
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=) rs1349360990 0.00001
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) rs543060051 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) rs769685389 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=) rs763818374 0.00001
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=) rs1429055770 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602 0.00001
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) rs1267983821 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.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.2611+9A>G rs778897070 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) rs149294713 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.2707A>G (p.Thr903Ala) rs766526224 0.00001
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) rs748491290 0.00001
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=) rs1234917202 0.00001
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015 0.00001
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) rs763336691 0.00001
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) rs557641477 0.00001
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947 0.00001
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393 0.00001
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229 0.00001
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747 0.00001
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) rs1361120114 0.00001
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706 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.2943C>T (p.Ser981=) rs773684186 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.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880 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.350C>T (p.Ala117Val) rs1034569953 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=) rs1272309665 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=) rs752694569 0.00001
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) rs767665196 0.00001
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) rs750539690 0.00001
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=) rs1381446523 0.00001
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) rs754051200 0.00001
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) rs779086573 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 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.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=) rs780961121 0.00001
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) rs768493454 0.00001
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=) rs761677597 0.00001
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=) rs755634860 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=) rs1168042239 0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321 0.00001
NM_002180.3(IGHMBP2):c.711+1G>C rs774079947 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser) rs746910953 0.00001
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) rs774700020 0.00001
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) rs899517052 0.00001
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=) rs181492004 0.00001
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) rs555235493 0.00001
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) rs1323805346 0.00001
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.9:g.(?_68671411)_(68707209_?)del
NC_000011.9:g.(?_68671421)_(68679091_?)del
NC_000011.9:g.(?_68673517)_(68682511_?)del
NC_000011.9:g.(?_68682271)_(68682511_?)del
NC_000011.9:g.(?_68682281)_(68682501_?)del
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) rs199586231
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) rs1858730437
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) rs1368446033
NM_002180.3(IGHMBP2):c.1060+18T>A
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1060+7G>A
NM_002180.3(IGHMBP2):c.1060+8G>C
NM_002180.3(IGHMBP2):c.1060+9G>A
NM_002180.3(IGHMBP2):c.1061-16T>C
NM_002180.3(IGHMBP2):c.1061-20C>A
NM_002180.3(IGHMBP2):c.1061-20C>T
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) rs2154008237
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) rs1768499175
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=) rs2154006530
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) rs2154008241
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) rs2154008248
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=) rs145314949
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs) rs1594445698
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs) rs780692442
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002180.3(IGHMBP2):c.1235+13T>C
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
NM_002180.3(IGHMBP2):c.1235+1G>T
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1235+894C>G
NM_002180.3(IGHMBP2):c.1235+894C>T
NM_002180.3(IGHMBP2):c.1236-17C>T
NM_002180.3(IGHMBP2):c.1236-19T>A
NM_002180.3(IGHMBP2):c.1236-1G>T rs1124336
NM_002180.3(IGHMBP2):c.1236-4G>T
NM_002180.3(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1236-6G>T
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=) rs1345673085
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) rs1859389487
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs) rs777570288
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) rs2154008602
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) rs1859394402
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=) rs1594451498
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
NM_002180.3(IGHMBP2):c.1418+13G>T
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
NM_002180.3(IGHMBP2):c.1418+5G>A
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.3(IGHMBP2):c.1419-10T>C
NM_002180.3(IGHMBP2):c.1419-17C>T
NM_002180.3(IGHMBP2):c.1419-8T>C
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) rs2154008646
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) rs2154008651
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.1489G>A (p.Gly497Arg) rs764111837
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
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.1528G>A (p.Gly510Arg) rs1049595127
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) rs772984773
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) rs1859418981
NM_002180.3(IGHMBP2):c.1537+10C>T
NM_002180.3(IGHMBP2):c.1537+13G>A
NM_002180.3(IGHMBP2):c.1537+18T>C
NM_002180.3(IGHMBP2):c.1537+5G>A rs1859419489
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) rs926718557
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
NM_002180.3(IGHMBP2):c.1633-12C>G
NM_002180.3(IGHMBP2):c.1633-15C>T
NM_002180.3(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) rs1859480727
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) rs2154008764
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) rs7122089
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) rs2154006537
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) rs1859483901
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=) rs2154008770
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs) rs1311146809
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) rs1483165002
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) rs2154006539
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
NM_002180.3(IGHMBP2):c.1756+7A>G
NM_002180.3(IGHMBP2):c.1757-13T>C
NM_002180.3(IGHMBP2):c.1757-17C>T
NM_002180.3(IGHMBP2):c.1757-19C>T
NM_002180.3(IGHMBP2):c.1757-4G>A
NM_002180.3(IGHMBP2):c.1757-9C>T
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) rs1566445855
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=) rs776499527
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) rs777841793
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) rs779182888
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) rs1240319744
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
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.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) rs1555247971
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) rs753926352
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) rs1859531837
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) rs377743886
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) rs1859535346
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) rs1859535801
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) rs1859535898
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp) rs2154008864
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) rs746334377
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=) rs773543257
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) rs773543257
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=) rs1342765347
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) rs755468547
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) rs536678728
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) rs1042285874
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) rs1859546493
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) rs766802836
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) rs760161861
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) rs757779436
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) rs1464851091
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=) rs1165471451
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=) rs915018099
NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs) rs1594456890
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) rs779854653
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=) rs1005880496
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=) rs1241285720
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=) rs756948501
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) rs2154006546
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) rs755843076
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
NM_002180.3(IGHMBP2):c.256+14G>A
NM_002180.3(IGHMBP2):c.256+17C>T
NM_002180.3(IGHMBP2):c.256+20G>A
NM_002180.3(IGHMBP2):c.256+7del
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
NM_002180.3(IGHMBP2):c.257-10G>C
NM_002180.3(IGHMBP2):c.257-11T>C
NM_002180.3(IGHMBP2):c.257-11T>G
NM_002180.3(IGHMBP2):c.257-17A>C
NM_002180.3(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.3(IGHMBP2):c.257-4G>A rs1484354967
NM_002180.3(IGHMBP2):c.257-5T>C rs2154006685
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) rs766051417
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) rs753639706
NM_002180.3(IGHMBP2):c.2599A>T (p.Lys867Ter)
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) rs2154008959
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
NM_002180.3(IGHMBP2):c.2611+12A>G rs2154008964
NM_002180.3(IGHMBP2):c.2611+14dup
NM_002180.3(IGHMBP2):c.2611+17G>C
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
NM_002180.3(IGHMBP2):c.2611+1G>A rs786205090
NM_002180.3(IGHMBP2):c.2611+20C>T
NM_002180.3(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) rs1859576991
NM_002180.3(IGHMBP2):c.2612-10T>C rs2154009107
NM_002180.3(IGHMBP2):c.2612-11G>A
NM_002180.3(IGHMBP2):c.2612-15dup
NM_002180.3(IGHMBP2):c.2612-20G>A
NM_002180.3(IGHMBP2):c.2612-4C>T rs1859624339
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) rs914944175
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) rs1386297763
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) rs148605058
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
NM_002180.3(IGHMBP2):c.2784+15C>A
NM_002180.3(IGHMBP2):c.2784+7C>G
NM_002180.3(IGHMBP2):c.2784+8G>A
NM_002180.3(IGHMBP2):c.2785-13G>C
NM_002180.3(IGHMBP2):c.2785-13G>T
NM_002180.3(IGHMBP2):c.2785-14T>G
NM_002180.3(IGHMBP2):c.2785-19A>G
NM_002180.3(IGHMBP2):c.2785-3C>G rs1859669997
NM_002180.3(IGHMBP2):c.2785-3C>T rs1859669997
NM_002180.3(IGHMBP2):c.2785-4C>G
NM_002180.3(IGHMBP2):c.2785-4C>T
NM_002180.3(IGHMBP2):c.2785-6C>T
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2785-8C>T
NM_002180.3(IGHMBP2):c.2785-9C>T
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) rs2154009273
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) rs751847212
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=) rs557641477
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) rs1859672618
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) rs775514650
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) rs1859674357
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) rs2154009288
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg) rs572019890
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=) rs2154009296
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) rs1858277137
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) rs1131691657
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) rs865849237
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) rs2154009308
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) rs886048608
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) rs1271968797
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) rs1858278685
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=) rs2154006693
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) rs1858281719
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) rs1004055119
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) rs1015531394
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
NM_002180.3(IGHMBP2):c.449+13G>A
NM_002180.3(IGHMBP2):c.449+17G>A
NM_002180.3(IGHMBP2):c.449+1G>A rs797044802
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.449+2T>A
NM_002180.3(IGHMBP2):c.449+2del
NM_002180.3(IGHMBP2):c.449+8G>C
NM_002180.3(IGHMBP2):c.450-17G>C
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) rs1594418365
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs) rs2154006724
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) rs1858294631
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=) rs1858295479
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=) rs779086573
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) rs1566425176
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
NM_002180.3(IGHMBP2):c.547+11C>T
NM_002180.3(IGHMBP2):c.547+15G>A
NM_002180.3(IGHMBP2):c.547+19T>C
NM_002180.3(IGHMBP2):c.547+20C>G
NM_002180.3(IGHMBP2):c.547+20C>T
NM_002180.3(IGHMBP2):c.548-12C>T rs1858429648
NM_002180.3(IGHMBP2):c.548-13G>A
NM_002180.3(IGHMBP2):c.548-9C>T
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=) rs755103682
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) rs1280728139
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) rs369509318
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) rs752135303
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) rs1858437723
NM_002180.3(IGHMBP2):c.673del (p.Val225fs) rs1858438320
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) rs2154006946
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs) rs2154006948
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
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
NM_002180.3(IGHMBP2):c.711+17A>G
NM_002180.3(IGHMBP2):c.711+1G>A
NM_002180.3(IGHMBP2):c.712-10C>T
NM_002180.3(IGHMBP2):c.712-13T>C
NM_002180.3(IGHMBP2):c.712-18C>T
NM_002180.3(IGHMBP2):c.712-5C>T
NM_002180.3(IGHMBP2):c.712-9G>C
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) rs1858583764
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) rs775600808
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) rs1555243999
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) rs1284064613
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs) rs2154007211
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) rs1566430083
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) rs1594427564
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=) rs199619824
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=) rs2154007218
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) rs2154007219
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) rs2154007221
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
NM_002180.3(IGHMBP2):c.86+19G>T
NM_002180.3(IGHMBP2):c.86+1G>T
NM_002180.3(IGHMBP2):c.86+7G>A
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_002180.3(IGHMBP2):c.86+9G>A
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=)
NM_002180.3(IGHMBP2):c.87-11G>A
NM_002180.3(IGHMBP2):c.87-11G>C
NM_002180.3(IGHMBP2):c.87-12G>A
NM_002180.3(IGHMBP2):c.87-13G>C
NM_002180.3(IGHMBP2):c.87-14C>G
NM_002180.3(IGHMBP2):c.87-20C>A
NM_002180.3(IGHMBP2):c.87-9G>A
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) rs759987473
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) rs763867470
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.905_912+85del
NM_002180.3(IGHMBP2):c.912+10A>G
NM_002180.3(IGHMBP2):c.912+11T>C
NM_002180.3(IGHMBP2):c.912+13G>A
NM_002180.3(IGHMBP2):c.912+18T>C
NM_002180.3(IGHMBP2):c.912+4G>C
NM_002180.3(IGHMBP2):c.913-10T>C
NM_002180.3(IGHMBP2):c.913-19C>G
NM_002180.3(IGHMBP2):c.913-6T>A rs2154007472
NM_002180.3(IGHMBP2):c.913-8C>G
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) rs201177129
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=) rs1858724192
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) rs1858724192
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) rs863224880
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) rs759353094

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