ClinVar Miner

List of variants studied for functional neutrophil defect

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2461
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_002872.5(RAC2):c.448+37A>G rs9610682 0.41562
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_002872.5(RAC2):c.477T>C (p.Ala159=) rs1064498 0.22300
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.4(ITGB2):c.-111T>C rs2070947 0.21817
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_002872.5(RAC2):c.81C>G (p.Ala27=) rs2239774 0.15604
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_000211.5(ITGB2):c.147+16A>G rs34580582 0.07739
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_002872.5(RAC2):c.107+20T>C rs6000622 0.06966
NM_000211.5(ITGB2):c.148-16G>T rs2072703 0.06628
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_002872.5(RAC2):c.252C>T (p.Leu84=) rs2230919 0.02042
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713 0.01984
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667 0.01960
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_000211.5(ITGB2):c.59-15G>A rs74539155 0.01426
NM_000211.5(ITGB2):c.1657+9G>A rs114479227 0.01380
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_001805.4(CEBPE):c.747C>T (p.Arg249=) rs55722931 0.01359
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_018389.5(SLC35C1):c.*1208G>A rs115509471 0.00851
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_001805.4(CEBPE):c.234C>T (p.Pro78=) rs114913626 0.00837
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_000211.5(ITGB2):c.741+19C>T rs73374602 0.00635
NM_001805.4(CEBPE):c.511-15T>G rs147453535 0.00630
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) rs141903485 0.00571
NM_000211.5(ITGB2):c.810G>A (p.Ala270=) rs61737077 0.00555
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_000211.5(ITGB2):c.148-16del rs202011691 0.00529
NM_000211.5(ITGB2):c.148-18C>T rs201512257 0.00526
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_000211.5(ITGB2):c.*38T>C rs114632253 0.00491
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.2187C>T (p.Asn729=) rs113203253 0.00469
NM_000211.5(ITGB2):c.*167C>T rs561251271 0.00450
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460 0.00418
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_002872.5(RAC2):c.449-18G>T rs73889256 0.00403
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_018389.5(SLC35C1):c.1047G>A (p.Pro349=) rs113735964 0.00399
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_018389.5(SLC35C1):c.-88T>G rs546865255 0.00386
NM_018389.5(SLC35C1):c.-653C>T rs150274138 0.00348
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_018389.4(SLC35C1):c.-665C>T rs530622849 0.00288
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_000211.4(ITGB2):c.-107A>T rs572346607 0.00281
NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=) rs181910740 0.00276
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_000211.5(ITGB2):c.807C>T (p.Phe269=) rs142381225 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_000211.5(ITGB2):c.*168G>T rs755328937 0.00233
NM_000211.5(ITGB2):c.1172C>T (p.Thr391Met) rs141201564 0.00232
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00225
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_002872.5(RAC2):c.35+16G>A rs200969255 0.00209
NM_018389.5(SLC35C1):c.*1322A>G rs148127105 0.00203
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_000211.5(ITGB2):c.1497G>A (p.Lys499=) rs61747615 0.00193
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_018389.5(SLC35C1):c.-633T>G rs566857902 0.00177
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_000211.5(ITGB2):c.1658-19G>A rs200196087 0.00148
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_000211.5(ITGB2):c.2058C>G (p.Leu686=) rs117884186 0.00119
NM_018389.5(SLC35C1):c.598G>A (p.Val200Ile) rs146971634 0.00118
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_018389.5(SLC35C1):c.*647T>C rs372196593 0.00109
NM_018389.5(SLC35C1):c.*1569G>C rs139986610 0.00108
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000211.5(ITGB2):c.2189G>A (p.Ser730Asn) rs140767058 0.00098
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00094
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys) rs147238010 0.00084
NM_001805.4(CEBPE):c.35G>A (p.Arg12Gln) rs201106129 0.00081
NM_000211.5(ITGB2):c.732C>T (p.Ala244=) rs146557638 0.00077
NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn) rs149444043 0.00076
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_000211.5(ITGB2):c.222G>A (p.Ala74=) rs112931116 0.00068
NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met) rs150215024 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_002872.5(RAC2):c.501C>T (p.Thr167=) rs79799102 0.00067
NM_018389.4(SLC35C1):c.-657C>A rs550333679 0.00067
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_000211.5(ITGB2):c.195G>C (p.Arg65=) rs149429459 0.00061
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn) rs138659490 0.00056
NM_000211.5(ITGB2):c.1500C>T (p.Asp500=) rs150380090 0.00056
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00050
NM_000211.5(ITGB2):c.1617C>T (p.Ile539=) rs148306562 0.00049
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_002872.5(RAC2):c.226-16C>T rs201500108 0.00046
NM_000211.5(ITGB2):c.358C>T (p.Arg120Trp) rs148031841 0.00041
NM_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00041
NM_001805.4(CEBPE):c.205C>T (p.Leu69Phe) rs146580935 0.00039
NM_000211.5(ITGB2):c.994-19T>A rs373068121 0.00038
NM_018389.5(SLC35C1):c.534C>T (p.Ile178=) rs149296455 0.00038
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_001805.4(CEBPE):c.558G>A (p.Ala186=) rs372854243 0.00034
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_000211.5(ITGB2):c.2025G>A (p.Thr675=) rs369283897 0.00031
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000211.4(ITGB2):c.-98T>C rs7280802 0.00029
NM_002872.5(RAC2):c.507C>T (p.Phe169=) rs150782757 0.00029
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
NM_000211.5(ITGB2):c.*121C>T rs375146934 0.00026
NM_000211.5(ITGB2):c.1224+18G>T rs372885279 0.00026
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00025
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045 0.00024
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu) rs373223342 0.00024
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00024
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
NM_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_000211.5(ITGB2):c.453C>T (p.Gly151=) rs372501675 0.00021
NM_000211.5(ITGB2):c.-8C>T rs886057120 0.00020
NM_000211.5(ITGB2):c.805T>C (p.Phe269Leu) rs151274588 0.00020
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.123C>T (p.Pro41=) rs375907746 0.00019
NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu) rs375122306 0.00019
NM_000211.5(ITGB2):c.1818C>A (p.Gly606=) rs149858736 0.00019
NM_001805.4(CEBPE):c.410G>A (p.Ser137Asn) rs140606768 0.00019
NM_018389.5(SLC35C1):c.*1418C>A rs575219836 0.00019
NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) rs200146272 0.00019
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) rs758346041 0.00018
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00018
NM_000211.4(ITGB2):c.-228G>A rs915029945 0.00017
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe) rs750853525 0.00016
NM_000211.5(ITGB2):c.1413-16C>T rs370041443 0.00016
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
NM_000211.4(ITGB2):c.-101G>A rs1005306661 0.00015
NM_000211.5(ITGB2):c.1412+8G>A rs374246622 0.00015
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638 0.00015
NM_001805.4(CEBPE):c.374G>A (p.Arg125Gln) rs61737804 0.00015
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_000211.4(ITGB2):c.-199G>A rs746349537 0.00014
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000211.5(ITGB2):c.504C>T (p.Phe168=) rs143576179 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_018389.5(SLC35C1):c.*1619C>A rs552263015 0.00014
NM_018389.5(SLC35C1):c.-569C>T rs886048307 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_000211.5(ITGB2):c.1247C>T (p.Thr416Met) rs113084585 0.00013
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg) rs778865777 0.00013
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414 0.00013
NM_000211.5(ITGB2):c.963G>A (p.Ala321=) rs144862744 0.00013
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 0.00013
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00013
NM_000211.5(ITGB2):c.1677C>T (p.Cys559=) rs147719370 0.00012
NM_000211.5(ITGB2):c.828C>T (p.Gly276=) rs147150938 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_001805.4(CEBPE):c.486C>T (p.Pro162=) rs770451421 0.00012
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774 0.00012
NM_018389.5(SLC35C1):c.*1127G>A rs187013469 0.00012
NM_018389.5(SLC35C1):c.*572C>T rs886048318 0.00012
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=) rs111773874 0.00012
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00012
NM_000211.5(ITGB2):c.1306A>G (p.Ile436Val) rs142489611 0.00011
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met) rs376990045 0.00011
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080 0.00011
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln) rs769571214 0.00011
NM_001805.4(CEBPE):c.828C>T (p.Gly276=) rs143753215 0.00011
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00011
NM_018389.5(SLC35C1):c.975G>A (p.Thr325=) rs377098836 0.00011
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) rs552829558 0.00011
NM_000211.5(ITGB2):c.1176C>T (p.His392=) rs777889637 0.00010
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.1932C>T (p.Ser644=) rs776351244 0.00010
NM_000211.5(ITGB2):c.327A>G (p.Pro109=) rs199932521 0.00010
NM_000211.5(ITGB2):c.335C>T (p.Ala112Val) rs374494108 0.00010
NM_000211.5(ITGB2):c.51C>T (p.Leu17=) rs768225440 0.00010
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg) rs148038936 0.00010
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys) rs368371881 0.00010
NM_001805.4(CEBPE):c.565C>T (p.Pro189Ser) rs376534358 0.00010
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_001814.6(CTSC):c.930C>T (p.Tyr310=) rs148742372 0.00010
NM_002872.5(RAC2):c.147G>A (p.Lys49=) rs140543568 0.00010
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 0.00010
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) rs747094642 0.00010
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) rs551546723 0.00010
NM_000211.5(ITGB2):c.1062T>A (p.His354Gln) rs235330 0.00009
NM_000211.5(ITGB2):c.129C>T (p.Cys43=) rs144324839 0.00009
NM_000211.5(ITGB2):c.1569C>T (p.Asp523=) rs761544778 0.00009
NM_000211.5(ITGB2):c.1570G>A (p.Val524Ile) rs201654243 0.00009
NM_000211.5(ITGB2):c.1657+8C>T rs200926893 0.00009
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000211.5(ITGB2):c.733G>A (p.Ala245Thr) rs144280462 0.00009
NM_000211.5(ITGB2):c.816C>T (p.Asp272=) rs779979379 0.00009
NM_000211.5(ITGB2):c.909G>A (p.Ser303=) rs753280740 0.00009
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) rs368455704 0.00009
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_000211.5(ITGB2):c.1349G>A (p.Arg450Gln) rs764262758 0.00008
NM_000211.5(ITGB2):c.1650C>T (p.Gly550=) rs142476743 0.00008
NM_000211.5(ITGB2):c.1938G>A (p.Ala646=) rs377713804 0.00008
NM_000211.5(ITGB2):c.499+19del rs5030627 0.00008
NM_001805.4(CEBPE):c.303G>A (p.Ala101=) rs149752323 0.00008
NM_001814.6(CTSC):c.777C>T (p.Tyr259=) rs147002502 0.00008
NM_002872.5(RAC2):c.448+12G>A rs373971208 0.00008
NM_018389.5(SLC35C1):c.607G>A (p.Val203Met) rs368377475 0.00008
NM_000211.5(ITGB2):c.1754C>T (p.Pro585Leu) rs370702628 0.00007
NM_000211.5(ITGB2):c.1848C>T (p.Pro616=) rs562849126 0.00007
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000211.5(ITGB2):c.483C>T (p.Thr161=) rs750060536 0.00007
NM_001805.4(CEBPE):c.357G>A (p.Ala119=) rs202220573 0.00007
NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu) rs771361211 0.00007
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 0.00007
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) rs184091587 0.00007
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) rs542357552 0.00007
NM_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_000211.5(ITGB2):c.-10A>C rs371741629 0.00006
NM_000211.5(ITGB2):c.-39G>A rs886057121 0.00006
NM_000211.5(ITGB2):c.101G>A (p.Arg34Gln) rs140032296 0.00006
NM_000211.5(ITGB2):c.1023C>T (p.Ala341=) rs765209424 0.00006
NM_000211.5(ITGB2):c.1070A>G (p.Lys357Arg) rs530620955 0.00006
NM_000211.5(ITGB2):c.1412+7C>T rs368194398 0.00006
NM_000211.5(ITGB2):c.1462C>T (p.Arg488Trp) rs766548458 0.00006
NM_000211.5(ITGB2):c.1567G>A (p.Asp523Asn) rs199976562 0.00006
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys) rs375038257 0.00006
NM_000211.5(ITGB2):c.2142G>C (p.Leu714=) rs373668784 0.00006
NM_000211.5(ITGB2):c.2149A>G (p.Ile717Val) rs753452987 0.00006
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His) rs138714119 0.00006
NM_000211.5(ITGB2):c.2280G>A (p.Thr760=) rs145385843 0.00006
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00006
NM_000211.5(ITGB2):c.741+8C>T rs111780009 0.00006
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643 0.00006
NM_000211.5(ITGB2):c.854G>A (p.Arg285His) rs769752245 0.00006
NM_000211.5(ITGB2):c.924G>A (p.Ala308=) rs138698694 0.00006
NM_000211.5(ITGB2):c.990C>T (p.Tyr330=) rs141157011 0.00006
NM_001805.4(CEBPE):c.166G>A (p.Asp56Asn) rs371734898 0.00006
NM_001805.4(CEBPE):c.177C>G (p.Ala59=) rs141320203 0.00006
NM_001805.4(CEBPE):c.189G>A (p.Ala63=) rs199734343 0.00006
NM_001805.4(CEBPE):c.502G>A (p.Val168Ile) rs371549805 0.00006
NM_001805.4(CEBPE):c.55G>C (p.Glu19Gln) rs200738630 0.00006
NM_001805.4(CEBPE):c.711G>A (p.Leu237=) rs367795312 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_002872.5(RAC2):c.571C>T (p.Leu191Phe) rs755097815 0.00006
NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val) rs377292146 0.00006
NM_018389.5(SLC35C1):c.597C>T (p.Thr199=) rs376082724 0.00006
NM_018389.5(SLC35C1):c.879G>A (p.Pro293=) rs573349525 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018389.5(SLC35C1):c.903G>T (p.Thr301=) rs150743224 0.00006
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 0.00006
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) rs145048660 0.00006
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) rs572874105 0.00006
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_000211.5(ITGB2):c.*148C>T rs753098490 0.00005
NM_000211.5(ITGB2):c.*170C>T rs952815585 0.00005
NM_000211.5(ITGB2):c.112G>A (p.Glu38Lys) rs374031101 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.163G>C (p.Gly55Arg) rs778653538 0.00005
NM_000211.5(ITGB2):c.1878-5C>T rs368159523 0.00005
NM_000211.5(ITGB2):c.194G>A (p.Arg65Gln) rs144806686 0.00005
NM_000211.5(ITGB2):c.2247+19G>A rs372185176 0.00005
NM_000211.5(ITGB2):c.2268C>T (p.Ser756=) rs375931424 0.00005
NM_000211.5(ITGB2):c.28G>A (p.Ala10Thr) rs201802601 0.00005
NM_000211.5(ITGB2):c.618C>T (p.His206=) rs764171169 0.00005
NM_000211.5(ITGB2):c.740C>T (p.Pro247Leu) rs772666841 0.00005
NM_000211.5(ITGB2):c.763G>A (p.Val255Ile) rs200206541 0.00005
NM_000211.5(ITGB2):c.767C>T (p.Thr256Met) rs756545465 0.00005
NM_000211.5(ITGB2):c.795C>T (p.Asp265=) rs372377830 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000211.5(ITGB2):c.961G>A (p.Ala321Thr) rs377140902 0.00005
NM_001805.4(CEBPE):c.308G>A (p.Gly103Glu) rs768417509 0.00005
NM_001805.4(CEBPE):c.511-17C>T rs749364093 0.00005
NM_002872.5(RAC2):c.78C>T (p.Asn26=) rs375093215 0.00005
NM_018389.5(SLC35C1):c.585G>A (p.Ser195=) rs750284604 0.00005
NM_018389.5(SLC35C1):c.606C>T (p.Gly202=) rs757590578 0.00005
NM_031471.6(FERMT3):c.1030-3T>C rs772852769 0.00005
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) rs374091426 0.00005
NM_031471.6(FERMT3):c.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
NM_000211.4(ITGB2):c.-104C>T rs754249152 0.00004
NM_000211.5(ITGB2):c.1343G>A (p.Arg448Gln) rs149279736 0.00004
NM_000211.5(ITGB2):c.1389C>T (p.Gly463=) rs747649869 0.00004
NM_000211.5(ITGB2):c.1412+11C>A rs752126307 0.00004
NM_000211.5(ITGB2):c.1698G>A (p.Pro566=) rs778557089 0.00004
NM_000211.5(ITGB2):c.1797C>T (p.Asn599=) rs367757540 0.00004
NM_000211.5(ITGB2):c.1877+13G>A rs375419725 0.00004
NM_000211.5(ITGB2):c.1885G>A (p.Ala629Thr) rs200894474 0.00004
NM_000211.5(ITGB2):c.1937C>T (p.Ala646Val) rs201413647 0.00004
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu) rs373963624 0.00004
NM_000211.5(ITGB2):c.2107G>A (p.Ala703Thr) rs1045859276 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000211.5(ITGB2):c.275A>G (p.Asn92Ser) rs760545709 0.00004
NM_000211.5(ITGB2):c.359G>A (p.Arg120Gln) rs371519127 0.00004
NM_000211.5(ITGB2):c.45C>A (p.Leu15=) rs748182004 0.00004
NM_000211.5(ITGB2):c.493C>T (p.Arg165Cys) rs759935924 0.00004
NM_000211.5(ITGB2):c.500-3C>T rs376484884 0.00004
NM_000211.5(ITGB2):c.57C>T (p.Cys19=) rs533892661 0.00004
NM_000211.5(ITGB2):c.657C>T (p.Thr219=) rs146745379 0.00004
NM_000211.5(ITGB2):c.663C>T (p.Val221=) rs552709121 0.00004
NM_000211.5(ITGB2):c.750C>T (p.Ile250=) rs944565426 0.00004
NM_000211.5(ITGB2):c.762C>T (p.Asn254=) rs749472241 0.00004
NM_000211.5(ITGB2):c.796G>A (p.Gly266Ser) rs764894987 0.00004
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr) rs148775158 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.5(ITGB2):c.898-19C>T rs985549493 0.00004
NM_001805.4(CEBPE):c.216C>T (p.Pro72=) rs200808733 0.00004
NM_001805.4(CEBPE):c.22G>A (p.Glu8Lys) rs780505713 0.00004
NM_001805.4(CEBPE):c.404G>A (p.Arg135Gln) rs374190826 0.00004
NM_001805.4(CEBPE):c.501C>T (p.Arg167=) rs746097846 0.00004
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.195G>T (p.Val65=) rs776362819 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_002872.5(RAC2):c.282C>T (p.Arg94=) rs201989515 0.00004
NM_002872.5(RAC2):c.420G>A (p.Pro140=) rs539660525 0.00004
NM_018389.5(SLC35C1):c.*1156C>T rs886048319 0.00004
NM_018389.5(SLC35C1):c.*1373G>C rs886048320 0.00004
NM_018389.5(SLC35C1):c.*244G>A rs886048316 0.00004
NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr) rs371853940 0.00004
NM_018389.5(SLC35C1):c.153C>G (p.Thr51=) rs773263009 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) rs766282342 0.00004
NM_018389.5(SLC35C1):c.645C>T (p.Tyr215=) rs200626011 0.00004
NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val) rs765414779 0.00004
NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) rs759064697 0.00004
NM_018389.5(SLC35C1):c.858G>A (p.Leu286=) rs769671439 0.00004
NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg) rs761945760 0.00004
NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) rs768749954 0.00004
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_000211.5(ITGB2):c.1215C>A (p.Ile405=) rs145655011 0.00003
NM_000211.5(ITGB2):c.1275G>A (p.Ser425=) rs768557225 0.00003
NM_000211.5(ITGB2):c.1515C>T (p.Ile505=) rs779515705 0.00003
NM_000211.5(ITGB2):c.1590C>T (p.Tyr530=) rs143914741 0.00003
NM_000211.5(ITGB2):c.1658-10C>T rs377760671 0.00003
NM_000211.5(ITGB2):c.1658-9G>A rs775683352 0.00003
NM_000211.5(ITGB2):c.1678G>A (p.Gly560Arg) rs747266748 0.00003
NM_000211.5(ITGB2):c.1715C>T (p.Ala572Val) rs773732447 0.00003
NM_000211.5(ITGB2):c.1726G>A (p.Glu576Lys) rs145507744 0.00003
NM_000211.5(ITGB2):c.1755G>A (p.Pro585=) rs546962855 0.00003
NM_000211.5(ITGB2):c.1778G>A (p.Arg593His) rs749255547 0.00003
NM_000211.5(ITGB2):c.1788C>T (p.Cys596=) rs374307028 0.00003
NM_000211.5(ITGB2):c.178A>G (p.Ile60Val) rs781730372 0.00003
NM_000211.5(ITGB2):c.182G>A (p.Arg61His) rs752119939 0.00003
NM_000211.5(ITGB2):c.2004G>C (p.Glu668Asp) rs565042973 0.00003
NM_000211.5(ITGB2):c.2051G>A (p.Arg684His) rs780361764 0.00003
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln) rs200335681 0.00003
NM_000211.5(ITGB2):c.2106C>T (p.Ala702=) rs766199035 0.00003
NM_000211.5(ITGB2):c.252C>T (p.Leu84=) rs375749691 0.00003
NM_000211.5(ITGB2):c.260C>G (p.Thr87Ser) rs754994927 0.00003
NM_000211.5(ITGB2):c.474C>T (p.Asn158=) rs753440204 0.00003
NM_000211.5(ITGB2):c.513C>T (p.Phe171=) rs372174688 0.00003
NM_000211.5(ITGB2):c.602C>T (p.Pro201Leu) rs372179082 0.00003
NM_000211.5(ITGB2):c.699C>T (p.Pro233=) rs369682384 0.00003
NM_000211.5(ITGB2):c.741+12G>A rs778868090 0.00003
NM_000211.5(ITGB2):c.829G>A (p.Ala277Thr) rs752291593 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_001098426.2(SMARCD2):c.922-3C>T rs756359576 0.00003
NM_001805.4(CEBPE):c.130G>A (p.Ala44Thr) rs200138272 0.00003
NM_001805.4(CEBPE):c.156G>A (p.Gln52=) rs1347517629 0.00003
NM_001805.4(CEBPE):c.286G>A (p.Gly96Ser) rs547817409 0.00003
NM_001805.4(CEBPE):c.391C>T (p.Arg131Ter) rs760325316 0.00003
NM_001805.4(CEBPE):c.469C>T (p.Pro157Ser) rs754418523 0.00003
NM_001805.4(CEBPE):c.609T>C (p.Asp203=) rs753337511 0.00003
NM_001805.4(CEBPE):c.82G>A (p.Gly28Arg) rs771346092 0.00003
NM_001814.6(CTSC):c.768C>T (p.Gly256=) rs776824336 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001814.6(CTSC):c.90C>T (p.Cys30=) rs202160994 0.00003
NM_002872.5(RAC2):c.226-18C>T rs776743351 0.00003
NM_002872.5(RAC2):c.561C>T (p.Arg187=) rs201536161 0.00003
NM_018389.5(SLC35C1):c.*1031G>A rs1476944695 0.00003
NM_018389.5(SLC35C1):c.*1229C>T rs938496129 0.00003
NM_018389.5(SLC35C1):c.*528G>A rs886048317 0.00003
NM_018389.5(SLC35C1):c.-518C>A rs886048309 0.00003
NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) rs777594884 0.00003
NM_018389.5(SLC35C1):c.633C>G (p.Leu211=) rs372353822 0.00003
NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met) rs764909821 0.00003
NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser) rs757393960 0.00003
NM_018389.5(SLC35C1):c.711C>T (p.Asn237=) rs777163801 0.00003
NM_018389.5(SLC35C1):c.742C>T (p.Leu248=) rs774081262 0.00003
NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys) rs374599500 0.00003
NM_018389.5(SLC35C1):c.939C>T (p.Leu313=) rs776684184 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) rs371103107 0.00003
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) rs763449183 0.00003
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) rs773457746 0.00003
NM_031471.6(FERMT3):c.1545+5C>T rs755201201 0.00003
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) rs756707894 0.00003
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) rs375595381 0.00003
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) rs778967874 0.00003
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) rs201973872 0.00003
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) rs147374831 0.00003
NM_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_000211.5(ITGB2):c.1024G>A (p.Val342Met) rs759487369 0.00002
NM_000211.5(ITGB2):c.1084-14C>T rs2083821799 0.00002
NM_000211.5(ITGB2):c.1117G>A (p.Ala373Thr) rs752903416 0.00002
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00002
NM_000211.5(ITGB2):c.1165G>A (p.Gly389Arg) rs372510204 0.00002
NM_000211.5(ITGB2):c.1223C>T (p.Pro408Leu) rs763860990 0.00002
NM_000211.5(ITGB2):c.1302G>A (p.Thr434=) rs757330899 0.00002
NM_000211.5(ITGB2):c.1314C>T (p.Thr438=) rs1181135718 0.00002
NM_000211.5(ITGB2):c.1335T>C (p.Cys445=) rs762391130 0.00002
NM_000211.5(ITGB2):c.1566C>T (p.Ser522=) rs750588799 0.00002
NM_000211.5(ITGB2):c.1611C>T (p.Asp537=) rs940347605 0.00002
NM_000211.5(ITGB2):c.1641G>A (p.Gln547=) rs767772567 0.00002
NM_000211.5(ITGB2):c.1655C>T (p.Pro552Leu) rs201000019 0.00002
NM_000211.5(ITGB2):c.1665G>T (p.Gly555=) rs990368825 0.00002
NM_000211.5(ITGB2):c.172G>A (p.Asp58Asn) rs1439079846 0.00002
NM_000211.5(ITGB2):c.1760G>A (p.Arg587His) rs772406915 0.00002
NM_000211.5(ITGB2):c.176C>T (p.Ser59Phe) rs1038389954 0.00002
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln) rs750019280 0.00002
NM_000211.5(ITGB2):c.1803C>T (p.Cys601=) rs373900883 0.00002
NM_000211.5(ITGB2):c.1959G>A (p.Ser653=) rs545524615 0.00002
NM_000211.5(ITGB2):c.2027T>A (p.Leu676Gln) rs986681121 0.00002
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000211.5(ITGB2):c.213G>C (p.Arg71Ser) rs371854500 0.00002
NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn) rs750477817 0.00002
NM_000211.5(ITGB2):c.342G>A (p.Ala114=) rs746169231 0.00002
NM_000211.5(ITGB2):c.353C>A (p.Thr118Asn) rs758449686 0.00002
NM_000211.5(ITGB2):c.475G>A (p.Glu159Lys) rs765779500 0.00002
NM_000211.5(ITGB2):c.499+19A>G rs1016992186 0.00002
NM_000211.5(ITGB2):c.499+20G>A rs754986099 0.00002
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000211.5(ITGB2):c.563G>A (p.Arg188Gln) rs1053155608 0.00002
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000211.5(ITGB2):c.634A>G (p.Asn212Asp) rs376609171 0.00002
NM_000211.5(ITGB2):c.643A>G (p.Asn215Asp) rs770505759 0.00002
NM_000211.5(ITGB2):c.741+9G>A rs530354496 0.00002
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000211.5(ITGB2):c.80A>G (p.Lys27Arg) rs568718880 0.00002
NM_000211.5(ITGB2):c.994-15C>T rs780003137 0.00002
NM_001805.4(CEBPE):c.124C>A (p.Leu42Ile) rs762775546 0.00002
NM_001805.4(CEBPE):c.129C>T (p.Ser43=) rs750232833 0.00002
NM_001805.4(CEBPE):c.21C>T (p.Tyr7=) rs747473270 0.00002
NM_001805.4(CEBPE):c.223C>A (p.Pro75Thr) rs148458866 0.00002
NM_001805.4(CEBPE):c.279T>C (p.His93=) rs368706357 0.00002
NM_001805.4(CEBPE):c.399C>T (p.Ala133=) rs1322236997 0.00002
NM_001805.4(CEBPE):c.487G>A (p.Gly163Ser) rs762842144 0.00002
NM_001805.4(CEBPE):c.54C>T (p.Leu18=) rs752307075 0.00002
NM_001805.4(CEBPE):c.586G>A (p.Gly196Ser) rs147384349 0.00002
NM_001805.4(CEBPE):c.794G>A (p.Arg265His) rs199967428 0.00002
NM_001814.6(CTSC):c.641+8A>G rs754068012 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_002872.5(RAC2):c.192C>T (p.Tyr64=) rs772302068 0.00002
NM_002872.5(RAC2):c.229G>A (p.Val77Ile) rs578052035 0.00002
NM_002872.5(RAC2):c.276C>T (p.Asn92=) rs768931430 0.00002
NM_002872.5(RAC2):c.281G>A (p.Arg94His) rs780585104 0.00002
NM_002872.5(RAC2):c.525C>T (p.Ala175=) rs575699146 0.00002
NM_002872.5(RAC2):c.548G>A (p.Arg183Gln) rs770795800 0.00002
NM_002872.5(RAC2):c.560G>A (p.Arg187His) rs1489649391 0.00002
NM_018389.5(SLC35C1):c.*561C>T rs934108329 0.00002
NM_018389.5(SLC35C1):c.-218G>C rs564660234 0.00002
NM_018389.5(SLC35C1):c.-481G>A rs886048310 0.00002
NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) rs776527276 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018389.5(SLC35C1):c.636C>T (p.Asn212=) rs549069990 0.00002
NM_018389.5(SLC35C1):c.819C>T (p.Gly273=) rs774033676 0.00002
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 0.00002
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) rs141640835 0.00002
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) rs773077169 0.00002
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) rs768084793 0.00002
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) rs900256457 0.00002
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) rs374745942 0.00002
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) rs775750630 0.00002
NM_031471.6(FERMT3):c.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 0.00002
NM_000211.5(ITGB2):c.1003G>A (p.Glu335Lys) rs762699337 0.00001
NM_000211.5(ITGB2):c.100C>T (p.Arg34Trp) rs775878305 0.00001
NM_000211.5(ITGB2):c.1083T>C (p.Asn361=) rs536046546 0.00001
NM_000211.5(ITGB2):c.1116C>T (p.Asn372=) rs201278836 0.00001
NM_000211.5(ITGB2):c.1126G>A (p.Asp376Asn) rs371120443 0.00001
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu) rs368899902 0.00001
NM_000211.5(ITGB2):c.1173G>A (p.Thr391=) rs747895476 0.00001
NM_000211.5(ITGB2):c.1179G>C (p.Arg393Ser) rs1162085262 0.00001
NM_000211.5(ITGB2):c.1187C>T (p.Pro396Leu) rs998582323 0.00001
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His) rs1381775363 0.00001
NM_000211.5(ITGB2):c.1207G>A (p.Val403Met) rs779705397 0.00001
NM_000211.5(ITGB2):c.1219G>A (p.Val407Ile) rs1342077214 0.00001
NM_000211.5(ITGB2):c.1224G>A (p.Pro408=) rs777120738 0.00001
NM_000211.5(ITGB2):c.1225-10T>A rs886057118 0.00001
NM_000211.5(ITGB2):c.1286G>A (p.Arg429Gln) rs775531955 0.00001
NM_000211.5(ITGB2):c.1342C>T (p.Arg448Trp) rs532267693 0.00001
NM_000211.5(ITGB2):c.1344G>A (p.Arg448=) rs900467466 0.00001
NM_000211.5(ITGB2):c.1379A>G (p.His460Arg) rs201739251 0.00001
NM_000211.5(ITGB2):c.1410C>T (p.Cys470=) rs753427314 0.00001
NM_000211.5(ITGB2):c.1412+12G>A rs764561793 0.00001
NM_000211.5(ITGB2):c.1424G>A (p.Gly475Asp) rs1460164455 0.00001
NM_000211.5(ITGB2):c.1430T>C (p.Ile477Thr) rs376491409 0.00001
NM_000211.5(ITGB2):c.1435A>G (p.Lys479Glu) rs946605387 0.00001
NM_000211.5(ITGB2):c.1473G>C (p.Gln491His) rs1052256139 0.00001
NM_000211.5(ITGB2):c.1493G>A (p.Arg498Gln) rs369318947 0.00001
NM_000211.5(ITGB2):c.1571T>C (p.Val524Ala) rs764061135 0.00001
NM_000211.5(ITGB2):c.1576G>A (p.Gly526Ser) rs745512221 0.00001
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His) rs201703437 0.00001
NM_000211.5(ITGB2):c.1658-14G>C rs2083753957 0.00001
NM_000211.5(ITGB2):c.1658-16C>G rs371215784 0.00001
NM_000211.5(ITGB2):c.1658-18T>C rs1259939944 0.00001
NM_000211.5(ITGB2):c.1687C>T (p.Arg563Cys) rs777922680 0.00001
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00001
NM_000211.5(ITGB2):c.1757G>A (p.Arg586Gln) rs921337956 0.00001
NM_000211.5(ITGB2):c.1762G>A (p.Val588Ile) rs748258747 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.1850G>A (p.Gly617Asp) rs1023125903 0.00001
NM_000211.5(ITGB2):c.1861C>G (p.Pro621Ala) rs1278051736 0.00001
NM_000211.5(ITGB2):c.187G>A (p.Asp63Asn) rs758534687 0.00001
NM_000211.5(ITGB2):c.1903G>A (p.Glu635Lys) rs758504990 0.00001
NM_000211.5(ITGB2):c.1904A>T (p.Glu635Val) rs374132330 0.00001
NM_000211.5(ITGB2):c.1934C>T (p.Ala645Val) rs371045998 0.00001
NM_000211.5(ITGB2):c.1958C>T (p.Ser653Leu) rs899349769 0.00001
NM_000211.5(ITGB2):c.2024C>T (p.Thr675Met) rs778278328 0.00001
NM_000211.5(ITGB2):c.2073G>C (p.Glu691Asp) rs879017906 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.2104G>A (p.Ala702Thr) rs540038454 0.00001
NM_000211.5(ITGB2):c.2113G>A (p.Val705Ile) rs373065825 0.00001
NM_000211.5(ITGB2):c.2119G>T (p.Gly707Cys) rs1338483196 0.00001
NM_000211.5(ITGB2):c.2125G>A (p.Val709Met) rs775809970 0.00001
NM_000211.5(ITGB2):c.2128G>A (p.Ala710Thr) rs776689530 0.00001
NM_000211.5(ITGB2):c.2132G>T (p.Gly711Val) rs771201581 0.00001
NM_000211.5(ITGB2):c.2141T>C (p.Leu714Pro) rs1261871346 0.00001
NM_000211.5(ITGB2):c.2172G>A (p.Lys724=) rs750002294 0.00001
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.2247+11G>A rs369454546 0.00001
NM_000211.5(ITGB2):c.2247T>C (p.Asn749=) rs773262146 0.00001
NM_000211.5(ITGB2):c.235A>G (p.Met79Val) rs932194440 0.00001
NM_000211.5(ITGB2):c.246A>T (p.Thr82=) rs778365550 0.00001
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr) rs548099370 0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) rs387906411 0.00001
NM_000211.5(ITGB2):c.302A>G (p.Gln101Arg) rs763707922 0.00001
NM_000211.5(ITGB2):c.322C>A (p.Arg108=) rs772471533 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.329-2dup rs758945566 0.00001
NM_000211.5(ITGB2):c.349G>A (p.Val117Met) rs777688420 0.00001
NM_000211.5(ITGB2):c.369G>A (p.Lys123=) rs1319975985 0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) rs137852615 0.00001
NM_000211.5(ITGB2):c.400G>A (p.Asp134Asn) rs745917556 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000211.5(ITGB2):c.464G>A (p.Arg155Gln) rs778870549 0.00001
NM_000211.5(ITGB2):c.489C>T (p.Ser163=) rs775889701 0.00001
NM_000211.5(ITGB2):c.501C>T (p.Gly167=) rs756942297 0.00001
NM_000211.5(ITGB2):c.514G>A (p.Val172Met) rs2083962040 0.00001
NM_000211.5(ITGB2):c.528G>C (p.Val176=) rs200639854 0.00001
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_000211.5(ITGB2):c.603G>A (p.Pro201=) rs761727899 0.00001
NM_000211.5(ITGB2):c.621G>A (p.Val207=) rs763210504 0.00001
NM_000211.5(ITGB2):c.630G>T (p.Leu210=) rs759527254 0.00001
NM_000211.5(ITGB2):c.702G>A (p.Glu234=) rs747079516 0.00001
NM_000211.5(ITGB2):c.711G>A (p.Leu237=) rs763149142 0.00001
NM_000211.5(ITGB2):c.718A>G (p.Met240Val) rs1601305422 0.00001
NM_000211.5(ITGB2):c.742-19C>T rs1255921482 0.00001
NM_000211.5(ITGB2):c.742-6T>C rs1340864224 0.00001
NM_000211.5(ITGB2):c.770G>A (p.Arg257Gln) rs1482665972 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000211.5(ITGB2):c.813C>T (p.Gly271=) rs768750631 0.00001
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn) rs749335770 0.00001
NM_000211.5(ITGB2):c.840C>T (p.Thr280=) rs2083933927 0.00001
NM_000211.5(ITGB2):c.846C>T (p.Asn282=) rs767870813 0.00001
NM_000211.5(ITGB2):c.858T>C (p.Cys286=) rs1418591638 0.00001
NM_000211.5(ITGB2):c.897C>T (p.Phe299=) rs150327269 0.00001
NM_000211.5(ITGB2):c.898-10C>T rs779504886 0.00001
NM_000211.5(ITGB2):c.908C>T (p.Ser303Leu) rs758627354 0.00001
NM_000211.5(ITGB2):c.918G>C (p.Gln306His) rs541510772 0.00001
NM_000211.5(ITGB2):c.956T>C (p.Ile319Thr) rs1601299390 0.00001
NM_000211.5(ITGB2):c.993+6T>A rs1374911814 0.00001
NM_000250.2(MPO):c.1495C>T (p.Arg499Cys) rs119469014 0.00001
NM_000250.2(MPO):c.1501G>A (p.Gly501Ser) rs119469013 0.00001
NM_000250.2(MPO):c.1783G>A (p.Gly595Ser) rs774984207 0.00001
NM_000250.2(MPO):c.403C>T (p.Arg135Ter) rs181494077 0.00001
NM_000250.2(MPO):c.721C>T (p.Gln241Ter) rs754632893 0.00001
NM_001805.4(CEBPE):c.100T>A (p.Cys34Ser) rs376629444 0.00001
NM_001805.4(CEBPE):c.119T>C (p.Ile40Thr) rs766049556 0.00001
NM_001805.4(CEBPE):c.145G>A (p.Gly49Arg) rs1301261529 0.00001
NM_001805.4(CEBPE):c.148G>C (p.Glu50Gln) rs993358781 0.00001
NM_001805.4(CEBPE):c.217G>A (p.Gly73Arg) rs556715943 0.00001
NM_001805.4(CEBPE):c.222C>T (p.Thr74=) rs142854852 0.00001
NM_001805.4(CEBPE):c.245C>T (p.Pro82Leu) rs372292172 0.00001
NM_001805.4(CEBPE):c.256C>T (p.Arg86Trp) rs773876082 0.00001
NM_001805.4(CEBPE):c.270C>T (p.Tyr90=) rs1038668199 0.00001
NM_001805.4(CEBPE):c.360G>A (p.Val120=) rs972830378 0.00001
NM_001805.4(CEBPE):c.373C>T (p.Arg125Trp) rs762474250 0.00001
NM_001805.4(CEBPE):c.437C>T (p.Ala146Val) rs562211538 0.00001
NM_001805.4(CEBPE):c.484C>A (p.Pro162Thr) rs773794064 0.00001
NM_001805.4(CEBPE):c.504T>C (p.Val168=) rs371937597 0.00001
NM_001805.4(CEBPE):c.524C>G (p.Thr175Ser) rs758115639 0.00001
NM_001805.4(CEBPE):c.536C>T (p.Pro179Leu) rs778374638 0.00001
NM_001805.4(CEBPE):c.547C>T (p.Leu183Phe) rs775481612 0.00001
NM_001805.4(CEBPE):c.603C>T (p.Asn201=) rs753524435 0.00001
NM_001805.4(CEBPE):c.611G>C (p.Ser204Thr) rs760759078 0.00001
NM_001805.4(CEBPE):c.64G>A (p.Gly22Arg) rs766209986 0.00001
NM_001805.4(CEBPE):c.70C>T (p.Arg24Ter) rs1396196056 0.00001
NM_001805.4(CEBPE):c.721G>A (p.Ala241Thr) rs1310252768 0.00001
NM_001805.4(CEBPE):c.729C>T (p.Asn243=) rs768742384 0.00001
NM_001805.4(CEBPE):c.740G>A (p.Arg247His) rs1348809504 0.00001
NM_001805.4(CEBPE):c.795C>G (p.Arg265=) rs1433033805 0.00001
NM_001805.4(CEBPE):c.81C>T (p.Pro27=) rs746375669 0.00001
NM_001805.4(CEBPE):c.820A>G (p.Ile274Val) rs1431194938 0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.1176T>C (p.Gly392=) rs773977769 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.804A>G (p.Glu268=) rs1264570336 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_002872.5(RAC2):c.105C>T (p.Thr35=) rs760366847 0.00001
NM_002872.5(RAC2):c.108-5C>G rs1268302473 0.00001
NM_002872.5(RAC2):c.186G>A (p.Glu62=) rs778182086 0.00001
NM_002872.5(RAC2):c.243C>T (p.Cys81=) rs1380331398 0.00001
NM_002872.5(RAC2):c.283G>A (p.Ala95Thr) rs1286584041 0.00001
NM_002872.5(RAC2):c.289-18C>T rs1927057532 0.00001
NM_002872.5(RAC2):c.305G>A (p.Arg102Gln) rs371002273 0.00001
NM_002872.5(RAC2):c.334C>T (p.Leu112=) rs1927054600 0.00001
NM_002872.5(RAC2):c.348G>A (p.Lys116=) rs777290534 0.00001
NM_002872.5(RAC2):c.363C>T (p.Asp121=) rs771516943 0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.379G>A (p.Glu127Lys) rs1342981751 0.00001
NM_002872.5(RAC2):c.449-3C>T rs367947647 0.00001
NM_002872.5(RAC2):c.449-9C>T rs1420203399 0.00001
NM_002872.5(RAC2):c.510C>T (p.Asp170=) rs752897291 0.00001
NM_002872.5(RAC2):c.547C>T (p.Arg183Trp) rs138762569 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001
NM_002872.5(RAC2):c.574C>T (p.Leu192Phe) rs754120892 0.00001
NM_002872.5(RAC2):c.579G>A (p.Ter193=) rs371789770 0.00001
NM_018389.5(SLC35C1):c.*1419A>G rs2085964667 0.00001
NM_018389.5(SLC35C1):c.*1543C>G rs766558309 0.00001
NM_018389.5(SLC35C1):c.*1647T>C rs886048323 0.00001
NM_018389.5(SLC35C1):c.*542A>T rs538005835 0.00001
NM_018389.5(SLC35C1):c.*650C>A rs780018107 0.00001
NM_018389.5(SLC35C1):c.*72G>A rs528884213 0.00001
NM_018389.5(SLC35C1):c.-287C>G rs974599944 0.00001
NM_018389.5(SLC35C1):c.-312T>C rs886048312 0.00001
NM_018389.5(SLC35C1):c.-393C>T rs886048311 0.00001
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile) rs768592798 0.00001
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly) rs759504632 0.00001
NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp) rs764451718 0.00001
NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=) rs749987181 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.130G>A (p.Val44Met) rs541937245 0.00001
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) rs769916550 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val) rs1184839008 0.00001
NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr) rs760741388 0.00001
NM_018389.5(SLC35C1):c.312C>T (p.Phe104=) rs75224835 0.00001
NM_018389.5(SLC35C1):c.354G>A (p.Leu118=) rs777637034 0.00001
NM_018389.5(SLC35C1):c.356C>A (p.Pro119His) rs1249225084 0.00001
NM_018389.5(SLC35C1):c.372C>T (p.Phe124=) rs1172535420 0.00001
NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) rs1183848479 0.00001
NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile) rs1235114730 0.00001
NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) rs751986448 0.00001
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) rs886048314 0.00001
NM_018389.5(SLC35C1):c.495C>T (p.Thr165=) rs1218424425 0.00001
NM_018389.5(SLC35C1):c.501C>T (p.Ser167=) rs956237776 0.00001
NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) rs752325595 0.00001
NM_018389.5(SLC35C1):c.536-10C>G rs759978339 0.00001
NM_018389.5(SLC35C1):c.630G>A (p.Ser210=) rs200577486 0.00001
NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu) rs766191758 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr) rs747660149 0.00001
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) rs748793953 0.00001
NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) rs1395133658 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) rs1410328784 0.00001
NM_018389.5(SLC35C1):c.846C>T (p.Tyr282=) rs748113243 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu) rs372897536 0.00001
NM_018389.5(SLC35C1):c.897G>A (p.Ser299=) rs141170131 0.00001
NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met) rs770499899 0.00001
NM_018389.5(SLC35C1):c.924A>G (p.Thr308=) rs1489703407 0.00001
NM_018389.5(SLC35C1):c.933C>T (p.Ala311=) rs1025394775 0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) rs766512058 0.00001
NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met) rs753103441 0.00001
NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr) rs764394629 0.00001
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) rs757642463 0.00001
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00001
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) rs867531303 0.00001
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) rs1347504374 0.00001
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) rs377759054 0.00001
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) rs775138431 0.00001
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) rs767054440 0.00001
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) rs775462582 0.00001
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) rs762230079 0.00001
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) rs772388994 0.00001
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) rs561391251 0.00001
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) rs773426791 0.00001
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) rs755669055 0.00001
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) rs1337201735 0.00001
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 0.00001
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) rs886043481 0.00001
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) rs778780064 0.00001
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) rs370418382 0.00001
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) rs1946335026 0.00001
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 0.00001
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) rs762181713 0.00001
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) rs750690989 0.00001
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) rs1179556498 0.00001
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) rs895025488 0.00001
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) rs1484992100 0.00001
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) rs756692622 0.00001
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) rs772115690 0.00001
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) rs754848089 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NC_000011.10:g.(?_45805782)_(45910982_?)dup
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)dup
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(88033833_?)del
NC_000011.9:g.(?_88027174)_(88070840_?)del
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000011.9:g.(?_88027619)_(88030969_?)del
NC_000011.9:g.(?_88033678)_(88033833_?)del
NC_000011.9:g.(?_88040961)_(88042398_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000011.9:g.(?_88045536)_(88045742_?)del
NC_000011.9:g.(?_88045536)_(88070840_?)del
NC_000014.8:g.(?_23242819)_(25103366_?)dup
NC_000014.8:g.(?_23586696)_(23902941_?)del
NC_000021.8:g.(?_46308588)_(46310157_?)del
NC_000021.8:g.(?_46309171)_(46310157_?)del
NC_000022.10:g.(?_37622713)_(37640188_?)dup
NC_000022.10:g.(?_37640134)_(37640188_?)del
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.*145C>T rs1160263
NM_000211.5(ITGB2):c.*171G>C rs6570
NM_000211.5(ITGB2):c.*219AGG[1] rs772191268
NM_000211.5(ITGB2):c.*289A>G rs541047362
NM_000211.5(ITGB2):c.*349del rs145404701
NM_000211.5(ITGB2):c.*370G>T rs117989670
NM_000211.5(ITGB2):c.*403C>T rs886057114
NM_000211.5(ITGB2):c.*56_*59dup rs886057115
NM_000211.5(ITGB2):c.1026G>A (p.Val342=)
NM_000211.5(ITGB2):c.1026G>T (p.Val342=)
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1034T>C (p.Leu345Pro) rs1460516188
NM_000211.5(ITGB2):c.1035G>A (p.Leu345=) rs2083842930
NM_000211.5(ITGB2):c.1040_1041del (p.Glu347fs)
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) rs137852613
NM_000211.5(ITGB2):c.1057del (p.Val353fs) rs2146511363
NM_000211.5(ITGB2):c.1063C>G (p.Leu355Val)
NM_000211.5(ITGB2):c.106T>G (p.Cys36Gly) rs2084111337
NM_000211.5(ITGB2):c.1081A>C (p.Asn361His) rs2083842316
NM_000211.5(ITGB2):c.1083+11C>G rs375358624
NM_000211.5(ITGB2):c.1083+11C>T
NM_000211.5(ITGB2):c.1083+12G>A
NM_000211.5(ITGB2):c.1083+15C>T rs2146511234
NM_000211.5(ITGB2):c.1083+20C>T
NM_000211.5(ITGB2):c.1083+7C>A rs867075981
NM_000211.5(ITGB2):c.1084-15G>A rs376782094
NM_000211.5(ITGB2):c.1084-16C>T
NM_000211.5(ITGB2):c.1084-4G>A
NM_000211.5(ITGB2):c.1084-4G>C
NM_000211.5(ITGB2):c.1084-4G>T rs747141875
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1084-6C>T
NM_000211.5(ITGB2):c.1105C>A (p.Leu369Met) rs2146508445
NM_000211.5(ITGB2):c.1112A>T (p.His371Leu) rs2083821185
NM_000211.5(ITGB2):c.111C>T (p.Ile37=)
NM_000211.5(ITGB2):c.1125C>G (p.Pro375=)
NM_000211.5(ITGB2):c.1125del (p.Asp376fs)
NM_000211.5(ITGB2):c.1130_1131delinsTT (p.Thr377Ile)
NM_000211.5(ITGB2):c.1138G>C (p.Val380Leu) rs1273615785
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1159A>C (p.Ser387Arg)
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
NM_000211.5(ITGB2):c.116del (p.Ser39fs)
NM_000211.5(ITGB2):c.1176C>G (p.His392Gln)
NM_000211.5(ITGB2):c.1177A>G (p.Arg393Gly) rs2083819691
NM_000211.5(ITGB2):c.1202A>G (p.Asp401Gly)
NM_000211.5(ITGB2):c.1203T>C (p.Asp401=)
NM_000211.5(ITGB2):c.1205G>A (p.Gly402Asp) rs2146508200
NM_000211.5(ITGB2):c.1206C>T (p.Gly402=) rs753706143
NM_000211.5(ITGB2):c.120G>A (p.Gly40=)
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1212G>A (p.Gln404=) rs756174661
NM_000211.5(ITGB2):c.121C>T (p.Pro41Ser) rs2146546214
NM_000211.5(ITGB2):c.1221C>T (p.Val407=)
NM_000211.5(ITGB2):c.1224+16A>G
NM_000211.5(ITGB2):c.1224+19G>A
NM_000211.5(ITGB2):c.1224+5G>A rs2146508114
NM_000211.5(ITGB2):c.1225-16C>A
NM_000211.5(ITGB2):c.1225-3C>T
NM_000211.5(ITGB2):c.1225-4G>A
NM_000211.5(ITGB2):c.1225-9G>A
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=) rs886057117
NM_000211.5(ITGB2):c.1239G>A (p.Val413=)
NM_000211.5(ITGB2):c.1248G>A (p.Thr416=)
NM_000211.5(ITGB2):c.124G>A (p.Gly42Ser)
NM_000211.5(ITGB2):c.124G>T (p.Gly42Cys) rs552407409
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1275G>C (p.Ser425=) rs768557225
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
NM_000211.5(ITGB2):c.1281C>T (p.Val427=)
NM_000211.5(ITGB2):c.1286G>C (p.Arg429Pro) rs775531955
NM_000211.5(ITGB2):c.1290G>A (p.Ala430=)
NM_000211.5(ITGB2):c.1290G>T (p.Ala430=) rs767645617
NM_000211.5(ITGB2):c.1299C>T (p.Phe433=)
NM_000211.5(ITGB2):c.1301C>T (p.Thr434Met) rs147537677
NM_000211.5(ITGB2):c.1315G>A (p.Val439Met)
NM_000211.5(ITGB2):c.1319A>C (p.Gln440Pro)
NM_000211.5(ITGB2):c.1319A>G (p.Gln440Arg)
NM_000211.5(ITGB2):c.131C>T (p.Thr44Ile) rs1601322083
NM_000211.5(ITGB2):c.1321G>A (p.Val441Ile)
NM_000211.5(ITGB2):c.1323_1324delinsCT (p.Leu442Phe) rs1555854770
NM_000211.5(ITGB2):c.1329C>T (p.Pro443=)
NM_000211.5(ITGB2):c.1332G>T (p.Gln444His) rs767850773
NM_000211.5(ITGB2):c.1348C>T (p.Arg450Trp)
NM_000211.5(ITGB2):c.1366C>T (p.Arg456Cys) rs146014032
NM_000211.5(ITGB2):c.1367G>A (p.Arg456His)
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs) rs2146504324
NM_000211.5(ITGB2):c.1374C>G (p.Leu458=)
NM_000211.5(ITGB2):c.137G>T (p.Cys46Phe)
NM_000211.5(ITGB2):c.1380T>C (p.His460=) rs142565171
NM_000211.5(ITGB2):c.1382G>C (p.Gly461Ala) rs1451408184
NM_000211.5(ITGB2):c.1382G>T (p.Gly461Val)
NM_000211.5(ITGB2):c.1390T>G (p.Phe464Val) rs1601287199
NM_000211.5(ITGB2):c.1392C>G (p.Phe464Leu)
NM_000211.5(ITGB2):c.1398G>A (p.Glu466=) rs2146504220
NM_000211.5(ITGB2):c.13C>A (p.Arg5Ser) rs61737078
NM_000211.5(ITGB2):c.13C>T (p.Arg5Cys) rs61737078
NM_000211.5(ITGB2):c.1401C>T (p.Cys467=)
NM_000211.5(ITGB2):c.1405A>G (p.Ile469Val) rs2146504186
NM_000211.5(ITGB2):c.1412+11C>T
NM_000211.5(ITGB2):c.1412+13C>G
NM_000211.5(ITGB2):c.1413-14C>T
NM_000211.5(ITGB2):c.1413-17G>A
NM_000211.5(ITGB2):c.1413-18G>C
NM_000211.5(ITGB2):c.1413-4C>G
NM_000211.5(ITGB2):c.1413-6C>A rs905822395
NM_000211.5(ITGB2):c.1419C>T (p.Asp473=)
NM_000211.5(ITGB2):c.141G>A (p.Gln47=)
NM_000211.5(ITGB2):c.1434G>A (p.Gly478=)
NM_000211.5(ITGB2):c.1443T>C (p.Cys481=)
NM_000211.5(ITGB2):c.1458G>A (p.Gln486=)
NM_000211.5(ITGB2):c.145C>T (p.Leu49=)
NM_000211.5(ITGB2):c.1461C>T (p.Gly487=) rs2146500458
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.1467C>G (p.Ser489Arg) rs2146500437
NM_000211.5(ITGB2):c.147+11C>T
NM_000211.5(ITGB2):c.147+15G>A
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
NM_000211.5(ITGB2):c.1477C>T (p.Leu493=)
NM_000211.5(ITGB2):c.148-12C>T rs2146539219
NM_000211.5(ITGB2):c.148-16G>A rs2072703
NM_000211.5(ITGB2):c.148-18C>G rs201512257
NM_000211.5(ITGB2):c.148-8C>A
NM_000211.5(ITGB2):c.148-8C>G
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter) rs774228764
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp) rs372695770
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln) rs2083765900
NM_000211.5(ITGB2):c.1507T>A (p.Ser503Thr) rs1568882038
NM_000211.5(ITGB2):c.1507T>C (p.Ser503Pro)
NM_000211.5(ITGB2):c.1509C>T (p.Ser503=)
NM_000211.5(ITGB2):c.1513A>G (p.Ile505Val) rs2083765269
NM_000211.5(ITGB2):c.151T>A (p.Phe51Ile)
NM_000211.5(ITGB2):c.1524G>A (p.Gly508=)
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs) rs1230903176
NM_000211.5(ITGB2):c.1551C>T (p.Cys517=)
NM_000211.5(ITGB2):c.156A>C (p.Thr52=)
NM_000211.5(ITGB2):c.1570G>T (p.Val524Phe)
NM_000211.5(ITGB2):c.1575C>G (p.Pro525=) rs200615045
NM_000211.5(ITGB2):c.1576_1581del (p.Gly526_Lys527del) rs2083763778
NM_000211.5(ITGB2):c.15C>T (p.Arg5=)
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter) rs748574145
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=) rs748574145
NM_000211.5(ITGB2):c.1608T>C (p.Cys536=)
NM_000211.5(ITGB2):c.1619A>G (p.Asn540Ser)
NM_000211.5(ITGB2):c.1628G>A (p.Arg543His)
NM_000211.5(ITGB2):c.1636G>A (p.Gly546Ser) rs1052752055
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe) rs886057116
NM_000211.5(ITGB2):c.1644C>T (p.Val548=) rs2146499793
NM_000211.5(ITGB2):c.1647C>T (p.Cys549=)
NM_000211.5(ITGB2):c.1648G>A (p.Gly550Ser)
NM_000211.5(ITGB2):c.1651G>A (p.Gly551Ser)
NM_000211.5(ITGB2):c.1653C>A (p.Gly551=)
NM_000211.5(ITGB2):c.1656G>A (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1656G>C (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1657+13G>T
NM_000211.5(ITGB2):c.1657+1G>T rs2146499719
NM_000211.5(ITGB2):c.1658-12C>T
NM_000211.5(ITGB2):c.1658-17G>T
NM_000211.5(ITGB2):c.1658-20C>G
NM_000211.5(ITGB2):c.1658-20C>T
NM_000211.5(ITGB2):c.1659G>A (p.Gly553=)
NM_000211.5(ITGB2):c.1666C>T (p.Leu556Phe)
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg) rs747266748
NM_000211.5(ITGB2):c.1694A>T (p.His565Leu) rs965990834
NM_000211.5(ITGB2):c.169C>A (p.Pro57Thr) rs1401782366
NM_000211.5(ITGB2):c.1700G>T (p.Gly567Val) rs754953540
NM_000211.5(ITGB2):c.1709G>A (p.Gly570Asp) rs2083752823
NM_000211.5(ITGB2):c.1710C>A (p.Gly570=) rs766014139
NM_000211.5(ITGB2):c.1710C>T (p.Gly570=) rs766014139
NM_000211.5(ITGB2):c.1711T>G (p.Ser571Ala) rs1006758335
NM_000211.5(ITGB2):c.1716G>A (p.Ala572=) rs767238034
NM_000211.5(ITGB2):c.1716G>C (p.Ala572=) rs767238034
NM_000211.5(ITGB2):c.1725C>A (p.Cys575Ter)
NM_000211.5(ITGB2):c.1759del (p.Arg587fs) rs2146498117
NM_000211.5(ITGB2):c.175T>A (p.Ser59Thr)
NM_000211.5(ITGB2):c.1764T>A (p.Val588=) rs2083751658
NM_000211.5(ITGB2):c.1764T>C (p.Val588=)
NM_000211.5(ITGB2):c.1773T>C (p.Ser591=)
NM_000211.5(ITGB2):c.1782C>T (p.Gly594=)
NM_000211.5(ITGB2):c.1790G>A (p.Arg597His)
NM_000211.5(ITGB2):c.1798G>A (p.Val600Ile)
NM_000211.5(ITGB2):c.1800A>G (p.Val600=)
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys) rs145850370
NM_000211.5(ITGB2):c.1809C>T (p.Cys603=) rs370765614
NM_000211.5(ITGB2):c.1815A>G (p.Ser605=)
NM_000211.5(ITGB2):c.1828C>T (p.Pro610Ser) rs2083749841
NM_000211.5(ITGB2):c.1831C>G (p.Leu611Val)
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.1849G>A (p.Gly617Ser)
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys) rs749135078
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
NM_000211.5(ITGB2):c.1862C>T (p.Pro621Leu) rs2083748907
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.1877+12C>A rs200144784
NM_000211.5(ITGB2):c.1877+18_1877+70del rs2083747036
NM_000211.5(ITGB2):c.1877+20G>T
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1877+4A>T rs2146497740
NM_000211.5(ITGB2):c.1878-10C>T
NM_000211.5(ITGB2):c.1878-16A>G
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.1878-4G>A
NM_000211.5(ITGB2):c.187G>C (p.Asp63His) rs758534687
NM_000211.5(ITGB2):c.1880C>G (p.Ser627Cys) rs964332173
NM_000211.5(ITGB2):c.1884C>T (p.Cys628=) rs778582904
NM_000211.5(ITGB2):c.1887C>T (p.Ala629=) rs1019533391
NM_000211.5(ITGB2):c.1888G>T (p.Glu630Ter)
NM_000211.5(ITGB2):c.1902C>T (p.Phe634=)
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.1908G>C (p.Lys636Asn) rs1601281049
NM_000211.5(ITGB2):c.1912C>T (p.Pro638Ser)
NM_000211.5(ITGB2):c.1933G>A (p.Ala645Thr) rs142112499
NM_000211.5(ITGB2):c.1933G>T (p.Ala645Ser) rs142112499
NM_000211.5(ITGB2):c.193C>T (p.Arg65Trp)
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1945G>C (p.Gly649Arg)
NM_000211.5(ITGB2):c.1948C>T (p.Leu650=) rs2146496153
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.195G>A (p.Arg65=) rs149429459
NM_000211.5(ITGB2):c.1968C>A (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.1968C>G (p.Pro656=)
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.1982C>T (p.Thr661Ile) rs2083736727
NM_000211.5(ITGB2):c.1983C>A (p.Thr661=)
NM_000211.5(ITGB2):c.198A>G (p.Pro66=)
NM_000211.5(ITGB2):c.1995G>A (p.Arg665=)
NM_000211.5(ITGB2):c.19C>G (p.Pro7Ala) rs753110953
NM_000211.5(ITGB2):c.2014G>T (p.Val672Leu)
NM_000211.5(ITGB2):c.2029G>A (p.Glu677Lys)
NM_000211.5(ITGB2):c.2036del (p.Gln679fs) rs1227331406
NM_000211.5(ITGB2):c.203T>G (p.Leu68Arg)
NM_000211.5(ITGB2):c.2040C>T (p.Asp680=)
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) rs2083735130
NM_000211.5(ITGB2):c.2052C>T (p.Arg684=)
NM_000211.5(ITGB2):c.2058C>T (p.Leu686=) rs117884186
NM_000211.5(ITGB2):c.2061C>T (p.Ile687=)
NM_000211.5(ITGB2):c.2067G>A (p.Val689=)
NM_000211.5(ITGB2):c.2078G>C (p.Arg693Pro) rs200335681
NM_000211.5(ITGB2):c.2080+17G>A
NM_000211.5(ITGB2):c.2080+6G>C rs1044311307
NM_000211.5(ITGB2):c.2080+8C>T
NM_000211.5(ITGB2):c.2080+9G>A rs201448757
NM_000211.5(ITGB2):c.2080+9G>T
NM_000211.5(ITGB2):c.2081-20G>T rs2146491546
NM_000211.5(ITGB2):c.2088G>C (p.Val696=)
NM_000211.5(ITGB2):c.2090C>T (p.Ala697Val)
NM_000211.5(ITGB2):c.20C>A (p.Pro7Gln) rs759479855
NM_000211.5(ITGB2):c.2103C>A (p.Ile701=)
NM_000211.5(ITGB2):c.2103C>T (p.Ile701=)
NM_000211.5(ITGB2):c.2112C>T (p.Ile704=) rs760386808
NM_000211.5(ITGB2):c.2115C>G (p.Val705=)
NM_000211.5(ITGB2):c.2115C>T (p.Val705=)
NM_000211.5(ITGB2):c.2116G>A (p.Gly706Arg) rs202203340
NM_000211.5(ITGB2):c.2120G>C (p.Gly707Ala) rs2146491308
NM_000211.5(ITGB2):c.2121C>A (p.Gly707=) rs138050043
NM_000211.5(ITGB2):c.2124C>T (p.Thr708=)
NM_000211.5(ITGB2):c.2151T>C (p.Ile717=)
NM_000211.5(ITGB2):c.2154C>G (p.Leu718=) rs2146491179
NM_000211.5(ITGB2):c.218G>A (p.Cys73Tyr)
NM_000211.5(ITGB2):c.2190C>T (p.Ser730=)
NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.2211C>T (p.Arg737=)
NM_000211.5(ITGB2):c.2247+10C>A rs147248229
NM_000211.5(ITGB2):c.2247+11G>C
NM_000211.5(ITGB2):c.2247+13C>T
NM_000211.5(ITGB2):c.2247+20G>C
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.2247+7G>T rs2146490954
NM_000211.5(ITGB2):c.2247+8G>A
NM_000211.5(ITGB2):c.2247+8G>C
NM_000211.5(ITGB2):c.2247+8del rs2146490948
NM_000211.5(ITGB2):c.2248-15T>C
NM_000211.5(ITGB2):c.2248-1G>A
NM_000211.5(ITGB2):c.2248-20C>T
NM_000211.5(ITGB2):c.2248-20_2248-19del
NM_000211.5(ITGB2):c.2256C>T (p.Pro752=)
NM_000211.5(ITGB2):c.2269G>A (p.Ala757Thr) rs1421408165
NM_000211.5(ITGB2):c.2277G>A (p.Thr759=)
NM_000211.5(ITGB2):c.2277G>C (p.Thr759=) rs200448015
NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)
NM_000211.5(ITGB2):c.228C>A (p.Asp76Glu) rs368629638
NM_000211.5(ITGB2):c.229G>T (p.Asp77Tyr) rs141799330
NM_000211.5(ITGB2):c.2302G>C (p.Glu768Gln)
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=) rs762881198
NM_000211.5(ITGB2):c.234C>A (p.Ile78=)
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
NM_000211.5(ITGB2):c.242C>G (p.Pro81Arg) rs2146538855
NM_000211.5(ITGB2):c.245C>T (p.Thr82Ile)
NM_000211.5(ITGB2):c.248G>A (p.Ser83Asn)
NM_000211.5(ITGB2):c.260C>T (p.Thr87Ile) rs754994927
NM_000211.5(ITGB2):c.261C>G (p.Thr87=) rs1271614618
NM_000211.5(ITGB2):c.263A>G (p.Gln88Arg)
NM_000211.5(ITGB2):c.27C>T (p.Leu9=)
NM_000211.5(ITGB2):c.281G>A (p.Gly94Asp) rs761719553
NM_000211.5(ITGB2):c.289C>A (p.Gln97Lys) rs2146538713
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
NM_000211.5(ITGB2):c.305_306del (p.Lys102fs) rs2146538658
NM_000211.5(ITGB2):c.309G>T (p.Val103=)
NM_000211.5(ITGB2):c.30C>A (p.Ala10=) rs1254960152
NM_000211.5(ITGB2):c.312G>A (p.Thr104=) rs769522397
NM_000211.5(ITGB2):c.312G>C (p.Thr104=)
NM_000211.5(ITGB2):c.312G>T (p.Thr104=) rs769522397
NM_000211.5(ITGB2):c.318C>T (p.Tyr106=) rs1352092716
NM_000211.5(ITGB2):c.321G>A (p.Leu107=)
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.323G>A (p.Arg108Gln) rs550007417
NM_000211.5(ITGB2):c.328+10G>A
NM_000211.5(ITGB2):c.328+15G>T rs5030668
NM_000211.5(ITGB2):c.328+18G>T
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg) rs2084050156
NM_000211.5(ITGB2):c.329-12C>G rs2146532025
NM_000211.5(ITGB2):c.329-12C>T
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.329-5G>C
NM_000211.5(ITGB2):c.329-6C>G
NM_000211.5(ITGB2):c.329-7C>T rs2083997739
NM_000211.5(ITGB2):c.329-8A>C
NM_000211.5(ITGB2):c.329-8_329-7del
NM_000211.5(ITGB2):c.347A>G (p.Asn116Ser) rs915995681
NM_000211.5(ITGB2):c.348C>T (p.Asn116=)
NM_000211.5(ITGB2):c.353C>T (p.Thr118Ile)
NM_000211.5(ITGB2):c.355T>G (p.Phe119Val)
NM_000211.5(ITGB2):c.363G>C (p.Arg121=) rs2146531845
NM_000211.5(ITGB2):c.36G>T (p.Val12=) rs2084118855
NM_000211.5(ITGB2):c.372C>G (p.Gly124=)
NM_000211.5(ITGB2):c.377C>G (p.Pro126Arg) rs763505620
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.390C>T (p.Tyr130=)
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.400G>T (p.Asp134Tyr) rs745917556
NM_000211.5(ITGB2):c.402C>G (p.Asp134Glu) rs1601310189
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) rs137852617
NM_000211.5(ITGB2):c.421G>C (p.Asp141His)
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) rs137852611
NM_000211.5(ITGB2):c.459G>A (p.Leu153=)
NM_000211.5(ITGB2):c.45C>T (p.Leu15=) rs748182004
NM_000211.5(ITGB2):c.474C>A (p.Asn158Lys)
NM_000211.5(ITGB2):c.48C>T (p.Ser16=)
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser) rs770285096
NM_000211.5(ITGB2):c.493C>G (p.Arg165Gly) rs759935924
NM_000211.5(ITGB2):c.494G>A (p.Arg165His)
NM_000211.5(ITGB2):c.499+13C>A
NM_000211.5(ITGB2):c.499+15C>A
NM_000211.5(ITGB2):c.499+17G>A
NM_000211.5(ITGB2):c.500-13A>G rs1471835319
NM_000211.5(ITGB2):c.500-6C>T
NM_000211.5(ITGB2):c.503T>C (p.Phe168Ser) rs2083962255
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) rs137852612
NM_000211.5(ITGB2):c.51C>A (p.Leu17=)
NM_000211.5(ITGB2):c.534G>A (p.Pro178=)
NM_000211.5(ITGB2):c.536del (p.Phe179fs)
NM_000211.5(ITGB2):c.546G>A (p.Thr182=)
NM_000211.5(ITGB2):c.549C>T (p.His183=)
NM_000211.5(ITGB2):c.54G>A (p.Gly18=) rs372110619
NM_000211.5(ITGB2):c.555T>G (p.Asp185Glu) rs2083961139
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.58+19G>A
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) rs137852610
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys) rs755393167
NM_000211.5(ITGB2):c.58G>A (p.Val20Ile) rs111663308
NM_000211.5(ITGB2):c.59-10C>A
NM_000211.5(ITGB2):c.59-16C>T
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.59-9G>C rs141780263
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)
NM_000211.5(ITGB2):c.636C>T (p.Asn212=) rs2083959696
NM_000211.5(ITGB2):c.639C>T (p.Asn213=)
NM_000211.5(ITGB2):c.646C>G (p.Gln216Glu) rs976487831
NM_000211.5(ITGB2):c.662T>A (p.Val221Asp)
NM_000211.5(ITGB2):c.663C>G (p.Val221=)
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.726G>A (p.Gln242=)
NM_000211.5(ITGB2):c.730G>A (p.Ala244Thr)
NM_000211.5(ITGB2):c.741+13C>G
NM_000211.5(ITGB2):c.741+15C>T
NM_000211.5(ITGB2):c.741+16C>T
NM_000211.5(ITGB2):c.741+16del rs375487126
NM_000211.5(ITGB2):c.741+19C>A rs73374602
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-14C>A rs183204825
NM_000211.5(ITGB2):c.742-14C>T
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.742-16C>A
NM_000211.5(ITGB2):c.742-16del
NM_000211.5(ITGB2):c.742-20C>A rs113597686
NM_000211.5(ITGB2):c.742-21dup rs760281688
NM_000211.5(ITGB2):c.753del (p.Trp252fs) rs1349812924
NM_000211.5(ITGB2):c.757C>A (p.Arg253Ser) rs772607011
NM_000211.5(ITGB2):c.757C>T (p.Arg253Cys)
NM_000211.5(ITGB2):c.758G>A (p.Arg253His) rs200423927
NM_000211.5(ITGB2):c.768G>C (p.Thr256=)
NM_000211.5(ITGB2):c.780G>C (p.Val260=)
NM_000211.5(ITGB2):c.786del (p.Thr263fs) rs1601302490
NM_000211.5(ITGB2):c.78G>A (p.Thr26=) rs753813421
NM_000211.5(ITGB2):c.798C>T (p.Gly266=)
NM_000211.5(ITGB2):c.804T>C (p.His268=)
NM_000211.5(ITGB2):c.827G>A (p.Gly276Asp) rs1207286440
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe) rs2083934143
NM_000211.5(ITGB2):c.837G>C (p.Leu279=)
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
NM_000211.5(ITGB2):c.867G>A (p.Glu289=)
NM_000211.5(ITGB2):c.87G>A (p.Lys29=) rs772742293
NM_000211.5(ITGB2):c.880A>G (p.Lys294Glu) rs2083933179
NM_000211.5(ITGB2):c.88G>A (p.Val30Ile) rs962637993
NM_000211.5(ITGB2):c.894A>G (p.Glu298=)
NM_000211.5(ITGB2):c.897+11A>C
NM_000211.5(ITGB2):c.897+19C>A rs754377221
NM_000211.5(ITGB2):c.897+19C>T
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000211.5(ITGB2):c.897+6T>C rs2083932728
NM_000211.5(ITGB2):c.897+7C>T
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.898-8C>T
NM_000211.5(ITGB2):c.898G>A (p.Asp300Asn)
NM_000211.5(ITGB2):c.923C>T (p.Ala308Val)
NM_000211.5(ITGB2):c.92G>A (p.Ser31Asn)
NM_000211.5(ITGB2):c.932T>C (p.Leu311Pro) rs2083910472
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
NM_000211.5(ITGB2):c.960C>T (p.Phe320=)
NM_000211.5(ITGB2):c.969C>T (p.Thr323=) rs1177063851
NM_000211.5(ITGB2):c.974G>A (p.Arg325Lys)
NM_000211.5(ITGB2):c.979G>C (p.Val327Leu) rs753051803
NM_000211.5(ITGB2):c.991G>A (p.Glu331Lys)
NM_000211.5(ITGB2):c.993+11T>C rs2146520637
NM_000211.5(ITGB2):c.993+18C>G
NM_000211.5(ITGB2):c.993+1G>T
NM_000211.5(ITGB2):c.993+20G>A
NM_000211.5(ITGB2):c.993+20G>T rs762060430
NM_000211.5(ITGB2):c.993+9T>G
NM_000211.5(ITGB2):c.994-12_994-10del rs1221574332
NM_000211.5(ITGB2):c.994-1G>C rs1293268696
NM_000211.5(ITGB2):c.994-7C>A
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.1643G>A (p.Arg548Gln)
NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)
NM_000250.2(MPO):c.1715T>G (p.Leu572Trp) rs119469012
NM_000250.2(MPO):c.402G>A (p.Trp134Ter)
NM_000250.2(MPO):c.[1281del];[518A>G]
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
NM_001098426.2(SMARCD2):c.1181+1G>A rs1057518731
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter) rs1567760022
NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter)
NM_001098426.2(SMARCD2):c.401+2T>C rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) rs1555580263
NM_001098426.2(SMARCD2):c.511C>T (p.Gln171Ter) rs2144633398
NM_001098426.2(SMARCD2):c.568-1G>C rs112986541
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001098426.2(SMARCD2):c.654del (p.Gly220fs) rs2144630306
NM_001098426.2(SMARCD2):c.93del (p.Ala32fs) rs1379892630
NM_001805.4(CEBPE):c.103G>A (p.Glu35Lys)
NM_001805.4(CEBPE):c.105G>T (p.Glu35Asp) rs2140292273
NM_001805.4(CEBPE):c.10G>A (p.Gly4Arg) rs545367685
NM_001805.4(CEBPE):c.122A>G (p.Asp41Gly) rs2140292255
NM_001805.4(CEBPE):c.12_18dup (p.Tyr7fs) rs2140292375
NM_001805.4(CEBPE):c.138C>T (p.Ile46=)
NM_001805.4(CEBPE):c.140A>C (p.Glu47Ala) rs2048524240
NM_001805.4(CEBPE):c.157C>T (p.Leu53Phe)
NM_001805.4(CEBPE):c.159T>C (p.Leu53=)
NM_001805.4(CEBPE):c.165C>T (p.Ser55=)
NM_001805.4(CEBPE):c.177C>T (p.Ala59=) rs141320203
NM_001805.4(CEBPE):c.178G>A (p.Val60Met)
NM_001805.4(CEBPE):c.188C>T (p.Ala63Val)
NM_001805.4(CEBPE):c.18C>T (p.Tyr6=) rs776516349
NM_001805.4(CEBPE):c.199A>G (p.Arg67Gly) rs750228203
NM_001805.4(CEBPE):c.201dup (p.Gly68fs) rs2140292187
NM_001805.4(CEBPE):c.207C>G (p.Leu69=)
NM_001805.4(CEBPE):c.208A>G (p.Lys70Glu)
NM_001805.4(CEBPE):c.20A>G (p.Tyr7Cys)
NM_001805.4(CEBPE):c.213C>A (p.Gly71=)
NM_001805.4(CEBPE):c.216C>G (p.Pro72=) rs200808733
NM_001805.4(CEBPE):c.225T>C (p.Pro75=)
NM_001805.4(CEBPE):c.227C>T (p.Ala76Val)
NM_001805.4(CEBPE):c.228C>T (p.Ala76=)
NM_001805.4(CEBPE):c.240C>T (p.Tyr80=) rs2140292130
NM_001805.4(CEBPE):c.249T>C (p.Pro83=) rs2140292119
NM_001805.4(CEBPE):c.249_253del (p.Asp84fs) rs2140292116
NM_001805.4(CEBPE):c.25T>G (p.Cys9Gly) rs942911403
NM_001805.4(CEBPE):c.272C>G (p.Pro91Arg)
NM_001805.4(CEBPE):c.292G>C (p.Asp98His)
NM_001805.4(CEBPE):c.302C>T (p.Ala101Val)
NM_001805.4(CEBPE):c.303G>C (p.Ala101=)
NM_001805.4(CEBPE):c.330A>G (p.Pro110=)
NM_001805.4(CEBPE):c.335G>A (p.Ser112Asn)
NM_001805.4(CEBPE):c.339C>T (p.Tyr113=)
NM_001805.4(CEBPE):c.340G>A (p.Asp114Asn) rs2048522694
NM_001805.4(CEBPE):c.343C>A (p.Pro115Thr)
NM_001805.4(CEBPE):c.349G>A (p.Ala117Thr) rs1566773537
NM_001805.4(CEBPE):c.34C>T (p.Arg12Trp)
NM_001805.4(CEBPE):c.351T>C (p.Ala117=)
NM_001805.4(CEBPE):c.352G>T (p.Val118Leu) rs749080899
NM_001805.4(CEBPE):c.356C>A (p.Ala119Glu) rs752134859
NM_001805.4(CEBPE):c.356C>T (p.Ala119Val) rs752134859
NM_001805.4(CEBPE):c.357G>T (p.Ala119=) rs202220573
NM_001805.4(CEBPE):c.366G>T (p.Glu122Asp) rs2048522473
NM_001805.4(CEBPE):c.38G>T (p.Gly13Val)
NM_001805.4(CEBPE):c.392G>A (p.Arg131Gln) rs1363301754
NM_001805.4(CEBPE):c.395_406del (p.Ala132_Arg135del) rs757777504
NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)
NM_001805.4(CEBPE):c.42C>T (p.Gly14=)
NM_001805.4(CEBPE):c.436G>T (p.Ala146Ser)
NM_001805.4(CEBPE):c.452_453delinsGC (p.Thr151Ser)
NM_001805.4(CEBPE):c.474T>C (p.Thr158=)
NM_001805.4(CEBPE):c.48G>A (p.Gln16=)
NM_001805.4(CEBPE):c.496C>G (p.Leu166Val) rs1273577069
NM_001805.4(CEBPE):c.499C>T (p.Arg167Cys) rs559886851
NM_001805.4(CEBPE):c.509dup (p.Ala171fs) rs2140291802
NM_001805.4(CEBPE):c.510+10G>A
NM_001805.4(CEBPE):c.510+15G>A
NM_001805.4(CEBPE):c.510+17C>T
NM_001805.4(CEBPE):c.510+18C>T
NM_001805.4(CEBPE):c.510+6A>G
NM_001805.4(CEBPE):c.511-13C>G
NM_001805.4(CEBPE):c.511-20C>G
NM_001805.4(CEBPE):c.511-24G>A rs45496295
NM_001805.4(CEBPE):c.511-7C>T
NM_001805.4(CEBPE):c.511-9C>T
NM_001805.4(CEBPE):c.511G>A (p.Ala171Thr)
NM_001805.4(CEBPE):c.512C>A (p.Ala171Asp)
NM_001805.4(CEBPE):c.517T>G (p.Leu173Val)
NM_001805.4(CEBPE):c.525T>C (p.Thr175=)
NM_001805.4(CEBPE):c.534C>A (p.Pro178=)
NM_001805.4(CEBPE):c.534C>T (p.Pro178=) rs137857228
NM_001805.4(CEBPE):c.546C>T (p.Pro182=)
NM_001805.4(CEBPE):c.54C>A (p.Leu18=) rs752307075
NM_001805.4(CEBPE):c.54C>G (p.Leu18=)
NM_001805.4(CEBPE):c.551T>C (p.Leu184Pro) rs749540911
NM_001805.4(CEBPE):c.554A>C (p.Lys185Thr)
NM_001805.4(CEBPE):c.555G>A (p.Lys185=)
NM_001805.4(CEBPE):c.564C>T (p.Ser188=)
NM_001805.4(CEBPE):c.567G>A (p.Pro189=) rs373251741
NM_001805.4(CEBPE):c.567G>C (p.Pro189=) rs373251741
NM_001805.4(CEBPE):c.567G>T (p.Pro189=)
NM_001805.4(CEBPE):c.567_568dup (p.Ala190fs) rs2048516315
NM_001805.4(CEBPE):c.573C>T (p.Gly191=)
NM_001805.4(CEBPE):c.575C>T (p.Pro192Leu)
NM_001805.4(CEBPE):c.581A>C (p.His194Pro)
NM_001805.4(CEBPE):c.586G>T (p.Gly196Cys) rs147384349
NM_001805.4(CEBPE):c.587G>A (p.Gly196Asp) rs1664525350
NM_001805.4(CEBPE):c.601A>G (p.Asn201Asp) rs201257734
NM_001805.4(CEBPE):c.624G>A (p.Arg208=)
NM_001805.4(CEBPE):c.636G>A (p.Glu212=)
NM_001805.4(CEBPE):c.637C>T (p.Arg213Cys) rs2140291181
NM_001805.4(CEBPE):c.638G>A (p.Arg213His)
NM_001805.4(CEBPE):c.642C>T (p.Asn214=) rs2048515701
NM_001805.4(CEBPE):c.645C>T (p.Asn215=)
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)
NM_001805.4(CEBPE):c.657C>T (p.Arg219=) rs2048515613
NM_001805.4(CEBPE):c.662G>A (p.Ser221Asn) rs1566773059
NM_001805.4(CEBPE):c.669C>T (p.Asp223=)
NM_001805.4(CEBPE):c.66G>C (p.Gly22=)
NM_001805.4(CEBPE):c.66G>T (p.Gly22=) rs776941005
NM_001805.4(CEBPE):c.680G>A (p.Arg227Lys)
NM_001805.4(CEBPE):c.714G>A (p.Glu238=)
NM_001805.4(CEBPE):c.71G>A (p.Arg24Gln) rs747068325
NM_001805.4(CEBPE):c.723A>G (p.Ala241=)
NM_001805.4(CEBPE):c.733C>T (p.Arg245Cys)
NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)
NM_001805.4(CEBPE):c.772G>A (p.Asp258Asn)
NM_001805.4(CEBPE):c.778C>T (p.Leu260Phe) rs1420638415
NM_001805.4(CEBPE):c.779T>G (p.Leu260Arg)
NM_001805.4(CEBPE):c.789C>G (p.Leu263=) rs1594808331
NM_001805.4(CEBPE):c.798G>A (p.Gln266=)
NM_001805.4(CEBPE):c.804T>C (p.Pro268=) rs2140290990
NM_001805.4(CEBPE):c.810G>A (p.Ala270=) rs774719241
NM_001805.4(CEBPE):c.813C>T (p.Ala271=) rs2140290979
NM_001805.4(CEBPE):c.81C>G (p.Pro27=) rs746375669
NM_001805.4(CEBPE):c.823A>T (p.Lys275Ter)
NM_001805.4(CEBPE):c.9C>G (p.His3Gln)
NM_001805.4(CEBPE):c.9C>T (p.His3=)
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1011C>T (p.Cys337=)
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1017T>C (p.Arg339=)
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1053C>T (p.Phe351=)
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.1062C>T (p.Gly354=)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1086T>G (p.Leu362=)
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1104G>T (p.Gly368=)
NM_001814.6(CTSC):c.1119T>A (p.Ala373=)
NM_001814.6(CTSC):c.111C>T (p.Gly37=)
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1125A>G (p.Glu375=)
NM_001814.6(CTSC):c.1140C>T (p.Phe380=)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.1158G>T (p.Gly386=)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1161C>T (p.Ile387=)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1179A>G (p.Leu393=)
NM_001814.6(CTSC):c.1188T>G (p.Pro396=)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1194C>T (p.Asn398=)
NM_001814.6(CTSC):c.1197C>T (p.Pro399=)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1227T>G (p.Leu409=)
NM_001814.6(CTSC):c.1233C>T (p.Gly411=)
NM_001814.6(CTSC):c.1239C>T (p.Gly413=)
NM_001814.6(CTSC):c.1242T>C (p.Thr414=)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1254T>A (p.Ser418=)
NM_001814.6(CTSC):c.1257G>A (p.Gly419=)
NM_001814.6(CTSC):c.1257G>T (p.Gly419=)
NM_001814.6(CTSC):c.1272T>A (p.Ile424=)
NM_001814.6(CTSC):c.1272T>C (p.Ile424=)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.1284C>T (p.Ser428=)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1320G>A (p.Arg440=)
NM_001814.6(CTSC):c.1323C>T (p.Ile441=)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335T>A (p.Thr445=)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
NM_001814.6(CTSC):c.1339G>T (p.Glu447Ter)
NM_001814.6(CTSC):c.1341G>A (p.Glu447=)
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.1377A>G (p.Pro459=)
NM_001814.6(CTSC):c.138C>T (p.Ser46=)
NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.144C>G (p.Ser48=)
NM_001814.6(CTSC):c.147G>A (p.Gln49=)
NM_001814.6(CTSC):c.15C>T (p.Pro5=)
NM_001814.6(CTSC):c.162C>T (p.Cys54=)
NM_001814.6(CTSC):c.165G>A (p.Ser55=)
NM_001814.6(CTSC):c.168T>G (p.Val56=)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.172+10C>T
NM_001814.6(CTSC):c.172+11G>C
NM_001814.6(CTSC):c.172+13C>T
NM_001814.6(CTSC):c.172+15C>T
NM_001814.6(CTSC):c.172+19A>C
NM_001814.6(CTSC):c.172+8G>C
NM_001814.6(CTSC):c.172+8G>T
NM_001814.6(CTSC):c.173-10_173-7del
NM_001814.6(CTSC):c.173-11T>C
NM_001814.6(CTSC):c.173-15T>A
NM_001814.6(CTSC):c.173-15T>G
NM_001814.6(CTSC):c.173-19T>C
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.173-6C>T
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.173-7T>G
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8T>G
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.174A>G (p.Gly58=)
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.180A>G (p.Gln60=)
NM_001814.6(CTSC):c.189A>G (p.Lys63=)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.18C>T (p.Ser6=)
NM_001814.6(CTSC):c.195G>A (p.Val65=)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.210G>A (p.Lys70=)
NM_001814.6(CTSC):c.213G>T (p.Leu71=)
NM_001814.6(CTSC):c.21G>A (p.Leu7=)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.222A>G (p.Ala74=)
NM_001814.6(CTSC):c.22C>T (p.Leu8=)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.234T>C (p.Leu78=)
NM_001814.6(CTSC):c.237C>T (p.Gly79=)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.243T>G (p.Ser81=)
NM_001814.6(CTSC):c.249T>C (p.His83=)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.255C>T (p.Thr85=)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.273C>T (p.Gly91=)
NM_001814.6(CTSC):c.27C>T (p.Leu9=)
NM_001814.6(CTSC):c.288G>A (p.Leu96=)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+13G>T
NM_001814.6(CTSC):c.318+17G>T
NM_001814.6(CTSC):c.318+20G>T
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.318+9T>C
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-10T>C
NM_001814.6(CTSC):c.319-11T>C
NM_001814.6(CTSC):c.319-17C>A
NM_001814.6(CTSC):c.319-17C>G
NM_001814.6(CTSC):c.319-17C>T
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.319-19_319-13del
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.319-1G>T
NM_001814.6(CTSC):c.319-20T>A
NM_001814.6(CTSC):c.319-4G>T
NM_001814.6(CTSC):c.319-5T>C
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.351C>T (p.Tyr117=)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.357C>T (p.Asn119=)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
NM_001814.6(CTSC):c.363A>G (p.Thr121=)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.369T>C (p.Thr123=)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.393C>T (p.Gly131=)
NM_001814.6(CTSC):c.394C>G (p.Arg132Gly)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.408T>C (p.Cys136=)
NM_001814.6(CTSC):c.40C>T (p.Leu14=)
NM_001814.6(CTSC):c.414C>A (p.Thr138=)
NM_001814.6(CTSC):c.414C>T (p.Thr138=)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.42G>C (p.Leu14=)
NM_001814.6(CTSC):c.432T>C (p.Thr144=)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.450T>C (p.Tyr150=)
NM_001814.6(CTSC):c.45del (p.Leu16fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.480G>A (p.Gln160=)
NM_001814.6(CTSC):c.485+11A>G
NM_001814.6(CTSC):c.485+12C>T
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-14A>C
NM_001814.6(CTSC):c.486-17C>T
NM_001814.6(CTSC):c.486-20T>C
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.486-9T>G
NM_001814.6(CTSC):c.48C>G (p.Leu16=)
NM_001814.6(CTSC):c.48C>T (p.Leu16=)
NM_001814.6(CTSC):c.495T>C (p.Asn165=)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.501C>T (p.Leu167=)
NM_001814.6(CTSC):c.503A>G (p.Tyr168Cys)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.507G>A (p.Lys169=)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.51C>T (p.Ser17=)
NM_001814.6(CTSC):c.522T>C (p.Phe174=)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.540C>T (p.Ala180=)
NM_001814.6(CTSC):c.546G>A (p.Gln182=)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.552T>G (p.Ser184=)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.591C>T (p.Thr197=)
NM_001814.6(CTSC):c.592C>T (p.Leu198=)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.609G>A (p.Arg203=)
NM_001814.6(CTSC):c.60C>T (p.Gly20=)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.639A>G (p.Pro213=)
NM_001814.6(CTSC):c.63C>G (p.Ala21=)
NM_001814.6(CTSC):c.63C>T (p.Ala21=)
NM_001814.6(CTSC):c.641+10C>T
NM_001814.6(CTSC):c.641+12C>T
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.641+20A>C
NM_001814.6(CTSC):c.641+20A>G
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.642-16T>C
NM_001814.6(CTSC):c.642-19A>G
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.642-8C>G
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
NM_001814.6(CTSC):c.648_649delinsCTGACTG (p.Lys216_Pro217delinsAsnTer)
NM_001814.6(CTSC):c.64G>T (p.Val22Leu)
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.666T>C (p.Ala222=)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.678A>G (p.Gln226=)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.696A>G (p.Pro232=)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.711G>A (p.Trp237Ter)
NM_001814.6(CTSC):c.717T>C (p.Asn239=)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.750A>C (p.Arg250=)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.757+15C>T
NM_001814.6(CTSC):c.757+17A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>A
NM_001814.6(CTSC):c.758-16T>C
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-16dup
NM_001814.6(CTSC):c.758-17C>T
NM_001814.6(CTSC):c.758-17_758-16del
NM_001814.6(CTSC):c.758-19G>A
NM_001814.6(CTSC):c.758-20T>C
NM_001814.6(CTSC):c.758-20T>G
NM_001814.6(CTSC):c.758-5G>A
NM_001814.6(CTSC):c.758-5G>T
NM_001814.6(CTSC):c.758-6C>T
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.762C>G (p.Ser254=)
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.789T>C (p.Ser263=)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.807G>A (p.Ala269=)
NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.84C>G (p.Ala28=)
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.873T>C (p.Cys291=)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.87C>T (p.Asn29=)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.882T>C (p.Tyr294=)
NM_001814.6(CTSC):c.889+13T>C
NM_001814.6(CTSC):c.889+18G>C
NM_001814.6(CTSC):c.889+19A>G
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.889+9T>A
NM_001814.6(CTSC):c.889+9T>C
NM_001814.6(CTSC):c.890-13T>A
NM_001814.6(CTSC):c.890-18T>C
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.890-20T>C
NM_001814.6(CTSC):c.890-5T>C
NM_001814.6(CTSC):c.890-6C>T
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.891C>T (p.Gly297=)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.897A>G (p.Glu299=)
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
NM_001814.6(CTSC):c.900C>T (p.Gly300=)
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.927G>A (p.Lys309=)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.936A>G (p.Gln312=)
NM_001814.6(CTSC):c.942T>C (p.Phe314=)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.948G>A (p.Leu316=)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.967C>T (p.Pro323Ser)
NM_001814.6(CTSC):c.969C>G (p.Pro323=)
NM_001814.6(CTSC):c.969C>T (p.Pro323=)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001814.6(CTSC):c.975A>G (p.Thr325=)
NM_001814.6(CTSC):c.978C>T (p.Gly326=)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.981T>A (p.Thr327=)
NM_001814.6(CTSC):c.981T>G (p.Thr327=)
NM_001814.6(CTSC):c.996A>G (p.Lys332=)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
NM_001814.6(CTSC):c.[1211delA;190_191insA]
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
NM_002872.5(RAC2):c.101C>G (p.Pro34Arg)
NM_002872.5(RAC2):c.108-11G>A
NM_002872.5(RAC2):c.108-14C>A
NM_002872.5(RAC2):c.108-19C>T
NM_002872.5(RAC2):c.108-20G>A
NM_002872.5(RAC2):c.108-5C>T
NM_002872.5(RAC2):c.108-7C>T
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_002872.5(RAC2):c.10A>G (p.Ile4Val)
NM_002872.5(RAC2):c.12C>T (p.Ile4=) rs996009169
NM_002872.5(RAC2):c.141C>T (p.Asp47=)
NM_002872.5(RAC2):c.156C>T (p.Asn52=)
NM_002872.5(RAC2):c.162G>A (p.Gly54=)
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn) rs74315507
NM_002872.5(RAC2):c.175G>T (p.Ala59Ser) rs2145824957
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)
NM_002872.5(RAC2):c.183G>A (p.Gln61=)
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002872.5(RAC2):c.187G>A (p.Asp63Asn) rs1927110250
NM_002872.5(RAC2):c.197G>A (p.Arg66His)
NM_002872.5(RAC2):c.202C>T (p.Arg68Trp)
NM_002872.5(RAC2):c.203G>A (p.Arg68Gln) rs1927109339
NM_002872.5(RAC2):c.206C>T (p.Pro69Leu)
NM_002872.5(RAC2):c.207G>A (p.Pro69=) rs755454147
NM_002872.5(RAC2):c.207G>C (p.Pro69=)
NM_002872.5(RAC2):c.225+13C>T
NM_002872.5(RAC2):c.225+16C>T
NM_002872.5(RAC2):c.225G>A (p.Thr75=)
NM_002872.5(RAC2):c.226-10C>G
NM_002872.5(RAC2):c.226-10C>T
NM_002872.5(RAC2):c.226-13G>T
NM_002872.5(RAC2):c.226-14T>C
NM_002872.5(RAC2):c.226-15T>C
NM_002872.5(RAC2):c.226-17G>A
NM_002872.5(RAC2):c.226-19_226-17del
NM_002872.5(RAC2):c.226-21dup rs11374583
NM_002872.5(RAC2):c.228C>T (p.Asp76=)
NM_002872.5(RAC2):c.236T>C (p.Leu79Pro)
NM_002872.5(RAC2):c.237C>A (p.Leu79=)
NM_002872.5(RAC2):c.239T>C (p.Ile80Thr)
NM_002872.5(RAC2):c.249C>T (p.Ser83=)
NM_002872.5(RAC2):c.258C>T (p.Ser86=)
NM_002872.5(RAC2):c.261A>T (p.Pro87=)
NM_002872.5(RAC2):c.264C>G (p.Ala88=)
NM_002872.5(RAC2):c.276C>G (p.Asn92Lys) rs768931430
NM_002872.5(RAC2):c.277G>A (p.Val93Ile)
NM_002872.5(RAC2):c.288+10A>G rs2145824091
NM_002872.5(RAC2):c.288+11C>T
NM_002872.5(RAC2):c.288+11del
NM_002872.5(RAC2):c.288+14G>T
NM_002872.5(RAC2):c.288+15G>A
NM_002872.5(RAC2):c.288+15G>C rs1271458258
NM_002872.5(RAC2):c.288+16T>C
NM_002872.5(RAC2):c.288+3G>C
NM_002872.5(RAC2):c.289-3C>T
NM_002872.5(RAC2):c.289-6G>T
NM_002872.5(RAC2):c.298G>A (p.Glu100Lys)
NM_002872.5(RAC2):c.304C>A (p.Arg102=)
NM_002872.5(RAC2):c.304C>T (p.Arg102Trp) rs1415916204
NM_002872.5(RAC2):c.317C>G (p.Pro106Arg)
NM_002872.5(RAC2):c.31G>A (p.Asp11Asn) rs1601679010
NM_002872.5(RAC2):c.328A>G (p.Ile110Val) rs1248326902
NM_002872.5(RAC2):c.32A>T (p.Asp11Val) rs1445302825
NM_002872.5(RAC2):c.333C>A (p.Ile111=)
NM_002872.5(RAC2):c.340G>C (p.Gly114Arg)
NM_002872.5(RAC2):c.347A>G (p.Lys116Arg) rs978951259
NM_002872.5(RAC2):c.349C>A (p.Leu117Met)
NM_002872.5(RAC2):c.35+15G>T rs748808662
NM_002872.5(RAC2):c.35+18C>T
NM_002872.5(RAC2):c.35+20T>A
NM_002872.5(RAC2):c.35+20T>C
NM_002872.5(RAC2):c.35+20T>G rs747917580
NM_002872.5(RAC2):c.35+3A>G
NM_002872.5(RAC2):c.36-16A>G
NM_002872.5(RAC2):c.36-17C>T
NM_002872.5(RAC2):c.36-18G>A
NM_002872.5(RAC2):c.36-6T>C
NM_002872.5(RAC2):c.363C>A (p.Asp121Glu)
NM_002872.5(RAC2):c.369G>A (p.Lys123=)
NM_002872.5(RAC2):c.371A>G (p.Asp124Gly)
NM_002872.5(RAC2):c.378C>T (p.Ile126=)
NM_002872.5(RAC2):c.39C>G (p.Ala13=)
NM_002872.5(RAC2):c.403G>T (p.Ala135Ser)
NM_002872.5(RAC2):c.40G>A (p.Val14Met)
NM_002872.5(RAC2):c.426C>G (p.Gly142=)
NM_002872.5(RAC2):c.426C>T (p.Gly142=)
NM_002872.5(RAC2):c.427C>T (p.Leu143=)
NM_002872.5(RAC2):c.432A>C (p.Ala144=)
NM_002872.5(RAC2):c.448+11C>T rs530853255
NM_002872.5(RAC2):c.448+18A>C
NM_002872.5(RAC2):c.448+25C>G rs9610683
NM_002872.5(RAC2):c.448+7G>T
NM_002872.5(RAC2):c.449-15C>T
NM_002872.5(RAC2):c.449-6A>G
NM_002872.5(RAC2):c.44G>A (p.Gly15Asp)
NM_002872.5(RAC2):c.450C>T (p.Asp150=) rs781040687
NM_002872.5(RAC2):c.452C>G (p.Ser151Trp)
NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)
NM_002872.5(RAC2):c.45C>T (p.Gly15=)
NM_002872.5(RAC2):c.466G>C (p.Glu156Gln)
NM_002872.5(RAC2):c.474A>G (p.Ser158=) rs1195995740
NM_002872.5(RAC2):c.47A>G (p.Lys16Arg)
NM_002872.5(RAC2):c.483C>T (p.Thr161=) rs1601667909
NM_002872.5(RAC2):c.501C>G (p.Thr167=)
NM_002872.5(RAC2):c.511G>A (p.Glu171Lys) rs561547070
NM_002872.5(RAC2):c.517A>C (p.Ile173Leu) rs2145819300
NM_002872.5(RAC2):c.520C>A (p.Arg174=)
NM_002872.5(RAC2):c.520C>T (p.Arg174Trp) rs1926846479
NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)
NM_002872.5(RAC2):c.522G>A (p.Arg174=)
NM_002872.5(RAC2):c.525C>G (p.Ala175=)
NM_002872.5(RAC2):c.528G>A (p.Val176=) rs2145819292
NM_002872.5(RAC2):c.544A>G (p.Thr182Ala) rs775274909
NM_002872.5(RAC2):c.546G>A (p.Thr182=)
NM_002872.5(RAC2):c.547C>A (p.Arg183=)
NM_002872.5(RAC2):c.54C>G (p.Cys18Trp) rs1927395509
NM_002872.5(RAC2):c.54C>T (p.Cys18=)
NM_002872.5(RAC2):c.559C>T (p.Arg187Cys) rs2145819256
NM_002872.5(RAC2):c.567C>T (p.Cys189=)
NM_002872.5(RAC2):c.569G>C (p.Ser190Thr)
NM_002872.5(RAC2):c.75C>T (p.Thr25=)
NM_002872.5(RAC2):c.81C>A (p.Ala27=) rs2239774
NM_002872.5(RAC2):c.87C>T (p.Pro29=)
NM_002872.5(RAC2):c.88G>A (p.Gly30Arg) rs1927394221
NM_002872.5(RAC2):c.93G>T (p.Glu31Asp)
NM_002872.5(RAC2):c.97A>G (p.Ile33Val) rs2145831322
NM_018389.4(SLC35C1):c.-678A>G rs886048306
NM_018389.5(SLC35C1):c.*1426G>A rs886048321
NM_018389.5(SLC35C1):c.*1582C>T rs189120012
NM_018389.5(SLC35C1):c.*1636G>A rs79173599
NM_018389.5(SLC35C1):c.*1636G>T rs79173599
NM_018389.5(SLC35C1):c.*697G>A rs866682376
NM_018389.5(SLC35C1):c.-234T>G rs886048313
NM_018389.5(SLC35C1):c.-615G>C rs987392297
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018389.5(SLC35C1):c.1002C>A (p.Ser334=)
NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)
NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)
NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=) rs2134598644
NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) rs2134598673
NM_018389.5(SLC35C1):c.1043C>A (p.Thr348Asn)
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=) rs886048315
NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)
NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) rs2134598996
NM_018389.5(SLC35C1):c.108G>A (p.Leu36=)
NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu) rs1329095261
NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) rs538320044
NM_018389.5(SLC35C1):c.120G>C (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.120G>T (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.123C>T (p.Ile41=) rs1590742957
NM_018389.5(SLC35C1):c.126G>C (p.Ala42=)
NM_018389.5(SLC35C1):c.12C>T (p.Ala4=)
NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) rs2085864641
NM_018389.5(SLC35C1):c.150C>T (p.Val50=)
NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)
NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val) rs1318213708
NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu) rs1315840820
NM_018389.5(SLC35C1):c.198C>T (p.Pro66=) rs1358909221
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) rs554958653
NM_018389.5(SLC35C1):c.204G>A (p.Leu68=)
NM_018389.5(SLC35C1):c.207G>A (p.Arg69=) rs757588395
NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)
NM_018389.5(SLC35C1):c.213C>T (p.Asp71=)
NM_018389.5(SLC35C1):c.216C>T (p.Thr72=)
NM_018389.5(SLC35C1):c.222C>A (p.Ile74=)
NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) rs200202916
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
NM_018389.5(SLC35C1):c.231C>G (p.Thr77=) rs1162234989
NM_018389.5(SLC35C1):c.255G>A (p.Thr85=)
NM_018389.5(SLC35C1):c.255G>T (p.Thr85=)
NM_018389.5(SLC35C1):c.258G>A (p.Leu86=)
NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) rs2134590175
NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)
NM_018389.5(SLC35C1):c.285C>A (p.Ala95=)
NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)
NM_018389.5(SLC35C1):c.291C>T (p.Cys97=)
NM_018389.5(SLC35C1):c.303C>T (p.Ala101=) rs1252172682
NM_018389.5(SLC35C1):c.309C>T (p.Asp103=)
NM_018389.5(SLC35C1):c.313C>G (p.Pro105Ala)
NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro) rs765620583
NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu) rs765620583
NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) rs374967002
NM_018389.5(SLC35C1):c.330C>T (p.Asp110=)
NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)
NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)
NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)
NM_018389.5(SLC35C1):c.345C>T (p.Arg115=)
NM_018389.5(SLC35C1):c.348C>T (p.Ser116=) rs755762331
NM_018389.5(SLC35C1):c.357C>T (p.Pro119=)
NM_018389.5(SLC35C1):c.358C>T (p.Leu120=)
NM_018389.5(SLC35C1):c.360G>A (p.Leu120=)
NM_018389.5(SLC35C1):c.363G>A (p.Ser121=)
NM_018389.5(SLC35C1):c.366G>T (p.Val122=)
NM_018389.5(SLC35C1):c.367del (p.Val123fs) rs2085872592
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) rs747143721
NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp) rs2085873008
NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_018389.5(SLC35C1):c.408G>A (p.Lys136=) rs1297705723
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) rs775175277
NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)
NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.447C>T (p.Leu149=)
NM_018389.5(SLC35C1):c.453C>T (p.Thr151=)
NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu) rs2134590716
NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro) rs778718913
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)
NM_018389.5(SLC35C1):c.516C>T (p.Leu172=)
NM_018389.5(SLC35C1):c.519C>G (p.Thr173=)
NM_018389.5(SLC35C1):c.535+11del
NM_018389.5(SLC35C1):c.535+15G>A
NM_018389.5(SLC35C1):c.535+20A>G
NM_018389.5(SLC35C1):c.536-16C>T
NM_018389.5(SLC35C1):c.536-21CTC[2] rs771937822
NM_018389.5(SLC35C1):c.540C>T (p.Gly180=)
NM_018389.5(SLC35C1):c.549T>C (p.Leu183=)
NM_018389.5(SLC35C1):c.564G>A (p.Glu188=) rs543075977
NM_018389.5(SLC35C1):c.567G>C (p.Gly189=)
NM_018389.5(SLC35C1):c.573A>G (p.Glu191=)
NM_018389.5(SLC35C1):c.580C>T (p.Leu194=)
NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala) rs2085865383
NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)
NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)
NM_018389.5(SLC35C1):c.603C>T (p.Phe201=)
NM_018389.5(SLC35C1):c.60A>G (p.Ser20=)
NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)
NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) rs2134597431
NM_018389.5(SLC35C1):c.641T>C (p.Ile214Thr)
NM_018389.5(SLC35C1):c.651G>A (p.Thr217=)
NM_018389.5(SLC35C1):c.651G>T (p.Thr217=)
NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) rs2134597499
NM_018389.5(SLC35C1):c.66C>T (p.Pro22=)
NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu) rs528291665
NM_018389.5(SLC35C1):c.672C>T (p.Asp224=) rs528291665
NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) rs2134597563
NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val) rs1565043377
NM_018389.5(SLC35C1):c.705C>T (p.Asn235=)
NM_018389.5(SLC35C1):c.717_718inv (p.Ile240Val)
NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu) rs7130656
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
NM_018389.5(SLC35C1):c.738C>G (p.Leu246=)
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=) rs369955835
NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)
NM_018389.5(SLC35C1):c.744G>T (p.Leu248=)
NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)
NM_018389.5(SLC35C1):c.759G>A (p.Gln253=)
NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) rs2085936907
NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) rs1159038048
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) rs1470970903
NM_018389.5(SLC35C1):c.78A>G (p.Ala26=) rs112575013
NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)
NM_018389.5(SLC35C1):c.804G>T (p.Gly268=) rs1327025697
NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)
NM_018389.5(SLC35C1):c.840C>A (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.840C>T (p.Ile280=) rs368103927
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_018389.5(SLC35C1):c.84C>A (p.Ala28=)
NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu) rs1377122884
NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)
NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) rs1304558236
NM_018389.5(SLC35C1):c.861G>A (p.Gln287=)
NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg) rs2085939659
NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) rs2134598263
NM_018389.5(SLC35C1):c.885C>T (p.Thr295=)
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg) rs2134598287
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) rs2134598310
NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu) rs2085940384
NM_018389.5(SLC35C1):c.903G>A (p.Thr301=) rs150743224
NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) rs398124345
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg) rs28937886
NM_018389.5(SLC35C1):c.933C>G (p.Ala311=) rs1025394775
NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) rs760348382
NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)
NM_018389.5(SLC35C1):c.954C>G (p.Thr318=)
NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) rs2134598497
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) rs2085942265
NM_018389.5(SLC35C1):c.978C>T (p.Ser326=)
NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg) rs764394629
NM_018389.5(SLC35C1):c.996C>T (p.Gly332=)
NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala) rs2085942864
NM_031471.6(FERMT3):c.1001T>C (p.Leu334Pro)
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
NM_031471.6(FERMT3):c.1014G>T (p.Ala338=)
NM_031471.6(FERMT3):c.1029+11G>C
NM_031471.6(FERMT3):c.1029+20A>G
NM_031471.6(FERMT3):c.1029+2T>C rs1591038507
NM_031471.6(FERMT3):c.1029+6G>T
NM_031471.6(FERMT3):c.1030-12G>A
NM_031471.6(FERMT3):c.1030-16T>G
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481
NM_031471.6(FERMT3):c.1030-7C>T
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) rs1946632820
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) rs2134881583
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) rs1946337090
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
NM_031471.6(FERMT3):c.1079+10G>T
NM_031471.6(FERMT3):c.1079+11G>T
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
NM_031471.6(FERMT3):c.1080-12C>T
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G
NM_031471.6(FERMT3):c.1080-18C>A
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.110C>T (p.Thr37Ile)
NM_031471.6(FERMT3):c.1113A>G (p.Gln371=)
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) rs1946639980
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) rs2134828211
NM_031471.6(FERMT3):c.1152C>T (p.Tyr384=)
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
NM_031471.6(FERMT3):c.1179C>T (p.Asp393=)
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
NM_031471.6(FERMT3):c.1204+1G>T
NM_031471.6(FERMT3):c.1205-24_1205-16del
NM_031471.6(FERMT3):c.1205-3C>T
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
NM_031471.6(FERMT3):c.1311+10G>A
NM_031471.6(FERMT3):c.1311+11dup
NM_031471.6(FERMT3):c.1311+13_1311+29del
NM_031471.6(FERMT3):c.1311+6T>G
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1312-13C>T
NM_031471.6(FERMT3):c.1312-18C>T
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1377C>T (p.Asp459=)
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1422C>T (p.Ser474=)
NM_031471.6(FERMT3):c.1426C>T (p.Gln476Ter)
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) rs1203250020
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) rs1400489114
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) rs773617643
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) rs184091587
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) rs1267328953
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) rs121918295
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+14T>C
NM_031471.6(FERMT3):c.1545+17G>C
NM_031471.6(FERMT3):c.1545+18G>T
NM_031471.6(FERMT3):c.1546-15A>G
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_031471.6(FERMT3):c.160A>G (p.Asn54Asp)
NM_031471.6(FERMT3):c.161-16C>T
NM_031471.6(FERMT3):c.161-20T>C
NM_031471.6(FERMT3):c.161-2A>C rs1286499329
NM_031471.6(FERMT3):c.161-7C>T
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) rs769352433
NM_031471.6(FERMT3):c.164G>A (p.Arg55His)
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1671-17C>G
NM_031471.6(FERMT3):c.1671-18T>A
NM_031471.6(FERMT3):c.1671-19C>G
NM_031471.6(FERMT3):c.1671-2A>G rs2134903776
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) rs1946752193
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) rs867920578
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
NM_031471.6(FERMT3):c.1735T>C (p.Leu579=)
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)
NM_031471.6(FERMT3):c.1749C>A (p.Asp583Glu)
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)
NM_031471.6(FERMT3):c.1790del (p.Asn597fs)
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)
NM_031471.6(FERMT3):c.1812+12C>T rs1282201698
NM_031471.6(FERMT3):c.1812+13C>A
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) rs2134906064
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) rs1565299599
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1905T>A (p.Ile635=)
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
NM_031471.6(FERMT3):c.1909C>T (p.Leu637=)
NM_031471.6(FERMT3):c.1910T>G (p.Leu637Arg)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) rs368565732
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) rs368565732
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
NM_031471.6(FERMT3):c.258G>C (p.Leu86=)
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)
NM_031471.6(FERMT3):c.323G>A (p.Arg108His)
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
NM_031471.6(FERMT3):c.394+11C>T
NM_031471.6(FERMT3):c.394+19T>G
NM_031471.6(FERMT3):c.394+20C>G
NM_031471.6(FERMT3):c.399C>T (p.Ile133=)
NM_031471.6(FERMT3):c.408C>T (p.Pro136=)
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) rs776324976
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) rs1189533527
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) rs759155629
NM_031471.6(FERMT3):c.450G>A (p.Lys150=)
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
NM_031471.6(FERMT3):c.468G>A (p.Glu156=)
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) rs121918296
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) rs2134844071
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_031471.6(FERMT3):c.510T>C (p.Ala170=)
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)
NM_031471.6(FERMT3):c.514+13G>T
NM_031471.6(FERMT3):c.514+15G>A
NM_031471.6(FERMT3):c.514+17G>A
NM_031471.6(FERMT3):c.514+20G>A
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_031471.6(FERMT3):c.515-10T>G
NM_031471.6(FERMT3):c.515-11C>G
NM_031471.6(FERMT3):c.515-16C>G
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.515-8C>A
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
NM_031471.6(FERMT3):c.540del (p.Met181fs) rs2134845306
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) rs2134845949
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) rs369072342
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) rs542357552
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) rs1591028090
NM_031471.6(FERMT3):c.683+17C>T
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.683+8C>G
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.684-6G>T
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) rs121918298
NM_031471.6(FERMT3):c.699G>A (p.Ser233=)
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) rs1946443415
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) rs2134847767
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) rs1408986056
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) rs1402606308
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)
NM_031471.6(FERMT3):c.733G>C (p.Asp245His)
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val)
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)
NM_031471.6(FERMT3):c.749G>A (p.Arg250His)
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) rs2134828037
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+16G>A
NM_031471.6(FERMT3):c.786+18G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_031471.6(FERMT3):c.787-10C>T
NM_031471.6(FERMT3):c.787-13C>T
NM_031471.6(FERMT3):c.787-14_788del
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) rs1591037806
NM_031471.6(FERMT3):c.832G>C (p.Asp278His)
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.84G>A (p.Glu28=)
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+20G>A
NM_031471.6(FERMT3):c.894+9C>A
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.895-5C>T
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.921del (p.Ser307fs) rs2134880586
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) rs566565776
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) rs1177180183
NM_031471.6(FERMT3):c.981G>C (p.Leu327=)
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)

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