ClinVar Miner

List of variants studied for functional neutrophil defect by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2223
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
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.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
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_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_000211.5(ITGB2):c.147+16A>G rs34580582 0.07739
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_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_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_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905 0.01127
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081 0.01093
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_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_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671 0.00731
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_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_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_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
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.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_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_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_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_018389.5(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_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_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_002872.5(RAC2):c.507C>T (p.Phe169=) rs150782757 0.00029
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
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.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.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_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.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_000211.5(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_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000211.5(ITGB2):c.504C>T (p.Phe168=) rs143576179 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 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_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.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.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.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_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.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.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_000211.5(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.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.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_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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.1026G>A (p.Val342=)
NM_000211.5(ITGB2):c.1026G>T (p.Val342=)
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.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.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.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.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.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.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.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.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+18_1877+70del rs2083747036
NM_000211.5(ITGB2):c.1877+20G>T
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.1878-4G>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.1902C>T (p.Phe634=)
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.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+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.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.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.329-12C>G rs2146532025
NM_000211.5(ITGB2):c.329-12C>T
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.400G>T (p.Asp134Tyr) rs745917556
NM_000211.5(ITGB2):c.402C>G (p.Asp134Glu) rs1601310189
NM_000211.5(ITGB2):c.421G>C (p.Asp141His)
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
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.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.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.555T>G (p.Asp185Glu) rs2083961139
NM_000211.5(ITGB2):c.58+19G>A
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.59-9G>C rs141780263
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
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.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.837G>C (p.Leu279=)
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+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.994-7C>A
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.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.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.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.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.-55C>A
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.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.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.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.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.1284C>T (p.Ser428=)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
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.1341G>A (p.Glu447=)
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
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.173-7T>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.319-20T>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.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.393C>T (p.Gly131=)
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.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.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.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+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.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.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.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.890-20T>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.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_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.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.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.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+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_018389.5(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.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.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.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.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.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.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.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.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.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.161-7C>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.1671-4_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.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.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.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.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.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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.