ClinVar Miner

List of variants in gene CIITA reported as uncertain significance for MHC class II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 540
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.*261C>T rs45447897 0.01013
NM_000246.4(CIITA):c.*103T>C rs45617532 0.00711
NM_000246.4(CIITA):c.*414T>C rs141707720 0.00346
NM_000246.4(CIITA):c.*927G>A rs45538933 0.00239
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.*395T>C rs754661893 0.00046
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_000246.4(CIITA):c.*126G>A rs565569961 0.00039
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) rs113889330 0.00031
NM_000246.4(CIITA):c.*849T>C rs182641396 0.00030
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000246.4(CIITA):c.826G>A (p.Gly276Ser) rs142461515 0.00022
NM_000246.4(CIITA):c.*673G>A rs779237900 0.00021
NM_000246.4(CIITA):c.1226G>A (p.Arg409Gln) rs745358587 0.00021
NM_000246.4(CIITA):c.1720G>T (p.Ala574Ser) rs148543906 0.00021
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_000246.4(CIITA):c.487C>A (p.Pro163Thr) rs555184617 0.00021
NM_000246.4(CIITA):c.*351C>T rs553581549 0.00019
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu) rs199476061 0.00019
NM_000246.4(CIITA):c.835A>G (p.Thr279Ala) rs145961289 0.00018
NM_000246.4(CIITA):c.2674A>G (p.Thr892Ala) rs139200062 0.00016
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1231C>T (p.Arg411Cys) rs201966261 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.614C>A (p.Thr205Asn) rs200545141 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000246.4(CIITA):c.1148C>A (p.Ala383Asp) rs763945523 0.00012
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000246.4(CIITA):c.294C>T (p.Ile98=) rs200299817 0.00012
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.*524A>G rs886051644 0.00011
NM_000246.4(CIITA):c.2028G>C (p.Gln676His) rs112852440 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.3109G>A (p.Glu1037Lys) rs552040932 0.00011
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=) rs201907821 0.00011
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) rs142443082 0.00011
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000246.4(CIITA):c.1225C>T (p.Arg409Trp) rs137895901 0.00010
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000246.4(CIITA):c.*163C>T rs989760698 0.00009
NM_000246.4(CIITA):c.*267A>C rs761701057 0.00009
NM_000246.4(CIITA):c.*303C>T rs779795769 0.00009
NM_000246.4(CIITA):c.*314C>A rs185592699 0.00009
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) rs199476070 0.00009
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) rs201080914 0.00009
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile) rs150452306 0.00009
NM_000246.4(CIITA):c.*164G>A rs570910497 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.1683C>T (p.Asp561=) rs76686583 0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000246.4(CIITA):c.1787C>T (p.Thr596Met) rs146528748 0.00007
NM_000246.4(CIITA):c.2098C>T (p.Arg700Trp) rs770284013 0.00007
NM_000246.4(CIITA):c.2758T>C (p.Phe920Leu) rs570003993 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn) rs771338224 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val) rs200354120 0.00006
NM_000246.4(CIITA):c.1643G>A (p.Arg548Gln) rs376916824 0.00006
NM_000246.4(CIITA):c.1739G>A (p.Arg580His) rs140269818 0.00006
NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln) rs753947354 0.00006
NM_000246.4(CIITA):c.1843C>T (p.Arg615Trp) rs144630160 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.2819C>T (p.Thr940Met) rs764478189 0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) rs766538754 0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) rs142031278 0.00006
NM_000246.4(CIITA):c.3029C>T (p.Thr1010Ile) rs779295530 0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.455C>T (p.Pro152Leu) rs774695473 0.00006
NM_000246.4(CIITA):c.5G>A (p.Arg2His) rs755048657 0.00006
NM_000246.4(CIITA):c.772+5G>T rs376221650 0.00006
NM_000246.4(CIITA):c.*203C>T rs527874709 0.00005
NM_000246.4(CIITA):c.2006G>A (p.Arg669His) rs745446439 0.00005
NM_000246.4(CIITA):c.3063-12G>T rs559875711 0.00005
NM_000246.4(CIITA):c.78G>C (p.Glu26Asp) rs775957955 0.00005
NM_000246.4(CIITA):c.*1092C>T rs886051646 0.00004
NM_000246.4(CIITA):c.*824T>C rs773206666 0.00004
NM_000246.4(CIITA):c.1138C>G (p.Arg380Gly) rs750567359 0.00004
NM_000246.4(CIITA):c.1322G>A (p.Arg441Gln) rs201662987 0.00004
NM_000246.4(CIITA):c.1480G>A (p.Val494Ile) rs150888938 0.00004
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00004
NM_000246.4(CIITA):c.1559C>T (p.Ala520Val) rs561841137 0.00004
NM_000246.4(CIITA):c.160A>G (p.Met54Val) rs375944925 0.00004
NM_000246.4(CIITA):c.1702G>A (p.Gly568Ser) rs749343874 0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000246.4(CIITA):c.2099G>A (p.Arg700Gln) rs749350138 0.00004
NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp) rs915701076 0.00004
NM_000246.4(CIITA):c.2184C>G (p.Ile728Met) rs746167072 0.00004
NM_000246.4(CIITA):c.2192A>G (p.Lys731Arg) rs372853839 0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) rs368233530 0.00004
NM_000246.4(CIITA):c.2933G>A (p.Arg978Gln) rs546498273 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys) rs747047617 0.00004
NM_000246.4(CIITA):c.326C>G (p.Ser109Cys) rs375019139 0.00004
NM_000246.4(CIITA):c.602G>A (p.Arg201His) rs563299137 0.00004
NM_000246.4(CIITA):c.*182C>G rs1264537500 0.00003
NM_000246.4(CIITA):c.*236G>A rs558642278 0.00003
NM_000246.4(CIITA):c.1416G>A (p.Leu472=) rs757999354 0.00003
NM_000246.4(CIITA):c.1577G>A (p.Arg526Gln) rs200240463 0.00003
NM_000246.4(CIITA):c.1579G>C (p.Gly527Arg) rs35451230 0.00003
NM_000246.4(CIITA):c.1814T>G (p.Leu605Arg) rs1482462500 0.00003
NM_000246.4(CIITA):c.2066C>T (p.Ala689Val) rs144027273 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.2104G>A (p.Ala702Thr) rs760410085 0.00003
NM_000246.4(CIITA):c.2335G>A (p.Ala779Thr) rs747159521 0.00003
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) rs755302593 0.00003
NM_000246.4(CIITA):c.2442C>T (p.His814=) rs746490057 0.00003
NM_000246.4(CIITA):c.2691G>T (p.Glu897Asp) rs764994021 0.00003
NM_000246.4(CIITA):c.2816+5G>C rs772579018 0.00003
NM_000246.4(CIITA):c.2935A>G (p.Ile979Val) rs1035273831 0.00003
NM_000246.4(CIITA):c.3014C>G (p.Ser1005Trp) rs759385748 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.452T>C (p.Leu151Pro) rs373022799 0.00003
NM_000246.4(CIITA):c.565G>A (p.Ala189Thr) rs370429955 0.00003
NM_000246.4(CIITA):c.772+9G>A rs750572482 0.00003
NM_000246.4(CIITA):c.781C>T (p.Pro261Ser) rs757943329 0.00003
NM_000246.4(CIITA):c.923G>A (p.Arg308Gln) rs780678285 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000246.4(CIITA):c.1002G>T (p.Trp334Cys) rs758762166 0.00002
NM_000246.4(CIITA):c.1067C>T (p.Pro356Leu) rs527539420 0.00002
NM_000246.4(CIITA):c.1072G>A (p.Gly358Ser) rs570428236 0.00002
NM_000246.4(CIITA):c.1222C>T (p.Arg408Trp) rs145508828 0.00002
NM_000246.4(CIITA):c.1436C>T (p.Ala479Val) rs901729238 0.00002
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) rs1427227633 0.00002
NM_000246.4(CIITA):c.1738C>T (p.Arg580Cys) rs746880514 0.00002
NM_000246.4(CIITA):c.2053G>A (p.Val685Met) rs148144155 0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) rs749019138 0.00002
NM_000246.4(CIITA):c.2536C>T (p.His846Tyr) rs769472311 0.00002
NM_000246.4(CIITA):c.2864G>A (p.Arg955Gln) rs202244966 0.00002
NM_000246.4(CIITA):c.2978C>T (p.Ala993Val) rs547505584 0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) rs772387879 0.00002
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_000246.4(CIITA):c.544C>A (p.Leu182Met) rs747552747 0.00002
NM_000246.4(CIITA):c.626C>T (p.Pro209Leu) rs368326813 0.00002
NM_000246.4(CIITA):c.871G>A (p.Ala291Thr) rs377598648 0.00002
NM_000246.4(CIITA):c.917C>T (p.Thr306Ile) rs1353818826 0.00002
NM_000246.4(CIITA):c.947C>T (p.Thr316Met) rs757632931 0.00002
NM_000246.4(CIITA):c.*493T>C rs886051643 0.00001
NM_000246.4(CIITA):c.*587A>G rs374276437 0.00001
NM_000246.4(CIITA):c.*658G>A rs1019236857 0.00001
NM_000246.4(CIITA):c.*667T>C rs1177422629 0.00001
NM_000246.4(CIITA):c.-4C>T rs763404027 0.00001
NM_000246.4(CIITA):c.1043C>T (p.Thr348Met) rs757559019 0.00001
NM_000246.4(CIITA):c.1054G>A (p.Glu352Lys) rs752576726 0.00001
NM_000246.4(CIITA):c.1097T>C (p.Val366Ala) rs539096456 0.00001
NM_000246.4(CIITA):c.109C>A (p.Leu37Ile) rs781465355 0.00001
NM_000246.4(CIITA):c.1130G>C (p.Ser377Thr) rs765530997 0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) rs748867171 0.00001
NM_000246.4(CIITA):c.1183G>A (p.Gly395Arg) rs953080654 0.00001
NM_000246.4(CIITA):c.1211C>T (p.Ala404Val) rs1392912244 0.00001
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln) rs572327540 0.00001
NM_000246.4(CIITA):c.1253T>C (p.Val418Ala) rs142317834 0.00001
NM_000246.4(CIITA):c.1287G>C (p.Trp429Cys) rs1311688934 0.00001
NM_000246.4(CIITA):c.1304G>A (p.Arg435Gln) rs756879407 0.00001
NM_000246.4(CIITA):c.1324C>T (p.Leu442Phe) rs1357669000 0.00001
NM_000246.4(CIITA):c.1327C>T (p.Pro443Ser) rs1465699067 0.00001
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu) rs774567918 0.00001
NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys) rs772224355 0.00001
NM_000246.4(CIITA):c.1498G>A (p.Gly500Ser) rs780155994 0.00001
NM_000246.4(CIITA):c.1508A>C (p.Glu503Ala) rs773203401 0.00001
NM_000246.4(CIITA):c.1550C>A (p.Pro517Gln) rs765687423 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.1699T>C (p.Ser567Pro) rs1352205920 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
NM_000246.4(CIITA):c.1732G>A (p.Val578Met) rs151195889 0.00001
NM_000246.4(CIITA):c.1795C>T (p.Arg599Trp) rs375045681 0.00001
NM_000246.4(CIITA):c.1813C>T (p.Leu605Phe) rs751338865 0.00001
NM_000246.4(CIITA):c.1856A>G (p.Gln619Arg) rs371603520 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.1940G>A (p.Arg647His) rs757021053 0.00001
NM_000246.4(CIITA):c.1963G>A (p.Gly655Arg) rs919087827 0.00001
NM_000246.4(CIITA):c.1981G>A (p.Ala661Thr) rs767235099 0.00001
NM_000246.4(CIITA):c.200-9T>C rs778238111 0.00001
NM_000246.4(CIITA):c.2027A>T (p.Gln676Leu) rs574001136 0.00001
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg) rs886051642 0.00001
NM_000246.4(CIITA):c.2135T>C (p.Leu712Pro) rs1271532108 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) rs200577013 0.00001
NM_000246.4(CIITA):c.2266C>T (p.Arg756Cys) rs745911038 0.00001
NM_000246.4(CIITA):c.2267G>A (p.Arg756His) rs1248790122 0.00001
NM_000246.4(CIITA):c.2294C>G (p.Pro765Arg) rs892019941 0.00001
NM_000246.4(CIITA):c.2324G>A (p.Gly775Glu) rs764376470 0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) rs199476072 0.00001
NM_000246.4(CIITA):c.2410C>T (p.Arg804Trp) rs781244775 0.00001
NM_000246.4(CIITA):c.2458G>A (p.Gly820Arg) rs2039291800 0.00001
NM_000246.4(CIITA):c.2470C>G (p.His824Asp) rs1156383695 0.00001
NM_000246.4(CIITA):c.2494C>G (p.Arg832Gly) rs778521786 0.00001
NM_000246.4(CIITA):c.2539G>A (p.Val847Ile) rs181710482 0.00001
NM_000246.4(CIITA):c.2551G>A (p.Ala851Thr) rs1007429981 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2576T>G (p.Phe859Cys) rs750247700 0.00001
NM_000246.4(CIITA):c.2671G>A (p.Asp891Asn) rs745913823 0.00001
NM_000246.4(CIITA):c.2686T>C (p.Trp896Arg) rs1379463795 0.00001
NM_000246.4(CIITA):c.2693C>A (p.Ser898Tyr) rs556056140 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.2773C>G (p.Leu925Val) rs1193901367 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala) rs747917501 0.00001
NM_000246.4(CIITA):c.2899G>T (p.Val967Phe) rs201571405 0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) rs1286058878 0.00001
NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys) rs762687010 0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) rs763766993 0.00001
NM_000246.4(CIITA):c.3127G>A (p.Ala1043Thr) rs1216256055 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000246.4(CIITA):c.3206C>T (p.Pro1069Leu) rs147935554 0.00001
NM_000246.4(CIITA):c.3233+7G>A rs765558693 0.00001
NM_000246.4(CIITA):c.3290G>A (p.Arg1097Gln) rs143260110 0.00001
NM_000246.4(CIITA):c.3311C>T (p.Thr1104Met) rs367805896 0.00001
NM_000246.4(CIITA):c.3326C>T (p.Thr1109Met) rs1013962316 0.00001
NM_000246.4(CIITA):c.3377G>A (p.Arg1126Gln) rs1596619583 0.00001
NM_000246.4(CIITA):c.395T>C (p.Met132Thr) rs781384047 0.00001
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) rs757017931 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000246.4(CIITA):c.482C>G (p.Ala161Gly) rs763457920 0.00001
NM_000246.4(CIITA):c.566C>T (p.Ala189Val) rs149076617 0.00001
NM_000246.4(CIITA):c.601C>T (p.Arg201Cys) rs543712859 0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) rs201764329 0.00001
NM_000246.4(CIITA):c.63G>C (p.Gln21His) rs748905238 0.00001
NM_000246.4(CIITA):c.647C>T (p.Ser216Leu) rs954347047 0.00001
NM_000246.4(CIITA):c.674G>A (p.Gly225Glu) rs371653584 0.00001
NM_000246.4(CIITA):c.680T>C (p.Ile227Thr) rs765306236 0.00001
NM_000246.4(CIITA):c.709C>G (p.Pro237Ala) rs2038871532 0.00001
NM_000246.4(CIITA):c.736G>A (p.Ala246Thr) rs1328031438 0.00001
NM_000246.4(CIITA):c.758T>C (p.Ile253Thr) rs761152169 0.00001
NM_000246.4(CIITA):c.802C>G (p.Pro268Ala) rs748582963 0.00001
NM_000246.4(CIITA):c.803C>T (p.Pro268Leu) rs1158727564 0.00001
NM_000246.4(CIITA):c.847C>T (p.Arg283Trp) rs556369319 0.00001
NM_000246.4(CIITA):c.*1122A>G rs1446926082
NM_000246.4(CIITA):c.*307G>A rs112026375
NM_000246.4(CIITA):c.*378G>A rs751268540
NM_000246.4(CIITA):c.*48G>C rs1201649733
NM_000246.4(CIITA):c.*570G>A rs886051645
NM_000246.4(CIITA):c.*708C>A rs952463695
NM_000246.4(CIITA):c.*709G>T rs551164286
NM_000246.4(CIITA):c.1006+3G>A rs980367583
NM_000246.4(CIITA):c.1009C>T (p.Pro337Ser) rs1294067359
NM_000246.4(CIITA):c.1010C>A (p.Pro337Gln) rs147670132
NM_000246.4(CIITA):c.1012G>A (p.Val338Met)
NM_000246.4(CIITA):c.1019A>G (p.Gln340Arg) rs772860663
NM_000246.4(CIITA):c.1027C>T (p.Arg343Cys)
NM_000246.4(CIITA):c.1028G>T (p.Arg343Leu) rs765940448
NM_000246.4(CIITA):c.1042A>G (p.Thr348Ala) rs568273747
NM_000246.4(CIITA):c.1043C>G (p.Thr348Arg)
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1054G>C (p.Glu352Gln) rs752576726
NM_000246.4(CIITA):c.1060G>A (p.Ala354Thr)
NM_000246.4(CIITA):c.1075A>G (p.Ile359Val) rs2039171491
NM_000246.4(CIITA):c.1076T>C (p.Ile359Thr) rs2039171653
NM_000246.4(CIITA):c.1106G>C (p.Arg369Thr) rs2039173383
NM_000246.4(CIITA):c.1107G>T (p.Arg369Ser)
NM_000246.4(CIITA):c.112C>T (p.Leu38Phe) rs751437463
NM_000246.4(CIITA):c.1139G>A (p.Arg380Gln)
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val) rs763945523
NM_000246.4(CIITA):c.1168C>T (p.Arg390Trp) rs182369772
NM_000246.4(CIITA):c.1190T>C (p.Leu397Pro)
NM_000246.4(CIITA):c.1215G>T (p.Lys405Asn) rs886051638
NM_000246.4(CIITA):c.1220A>G (p.His407Arg) rs2144700429
NM_000246.4(CIITA):c.1230_1231delinsAT (p.Arg411Cys)
NM_000246.4(CIITA):c.1241G>T (p.Arg414Leu) rs572327540
NM_000246.4(CIITA):c.1250C>T (p.Ala417Val)
NM_000246.4(CIITA):c.1264G>T (p.Ala422Ser)
NM_000246.4(CIITA):c.1296A>T (p.Ala432=) rs886051639
NM_000246.4(CIITA):c.1303C>T (p.Arg435Trp)
NM_000246.4(CIITA):c.1307C>A (p.Ala436Asp) rs1482043368
NM_000246.4(CIITA):c.1321C>T (p.Arg441Trp)
NM_000246.4(CIITA):c.1334_1335delinsCA (p.Tyr445Ser) rs2039193483
NM_000246.4(CIITA):c.1336G>C (p.Asp446His)
NM_000246.4(CIITA):c.133C>A (p.Leu45Met)
NM_000246.4(CIITA):c.1373G>A (p.Arg458His)
NM_000246.4(CIITA):c.1377G>A (p.Pro459=)
NM_000246.4(CIITA):c.1381G>C (p.Asp461His)
NM_000246.4(CIITA):c.139C>G (p.Leu47Val) rs1247471372
NM_000246.4(CIITA):c.1432G>T (p.Val478Leu)
NM_000246.4(CIITA):c.1448T>C (p.Val483Ala)
NM_000246.4(CIITA):c.145_147del (p.His49del)
NM_000246.4(CIITA):c.1463T>G (p.Leu488Trp) rs2039205639
NM_000246.4(CIITA):c.1476C>G (p.Asp492Glu)
NM_000246.4(CIITA):c.1477C>T (p.Arg493Cys)
NM_000246.4(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.4(CIITA):c.1484T>G (p.Leu495Arg)
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.4(CIITA):c.1526G>A (p.Gly509Asp)
NM_000246.4(CIITA):c.1532T>C (p.Leu511Pro)
NM_000246.4(CIITA):c.1537A>T (p.Ser513Cys)
NM_000246.4(CIITA):c.1538G>A (p.Ser513Asn) rs2039214040
NM_000246.4(CIITA):c.1552G>A (p.Ala518Thr) rs866050153
NM_000246.4(CIITA):c.1552G>C (p.Ala518Pro) rs866050153
NM_000246.4(CIITA):c.1553C>T (p.Ala518Val) rs979251376
NM_000246.4(CIITA):c.1558G>T (p.Ala520Ser) rs747042657
NM_000246.4(CIITA):c.1576C>T (p.Arg526Trp)
NM_000246.4(CIITA):c.1580G>C (p.Gly527Ala)
NM_000246.4(CIITA):c.1594C>T (p.Leu532Phe) rs375800045
NM_000246.4(CIITA):c.1615C>G (p.Arg539Gly)
NM_000246.4(CIITA):c.1643G>T (p.Arg548Leu) rs376916824
NM_000246.4(CIITA):c.1649G>A (p.Arg550Gln)
NM_000246.4(CIITA):c.164A>G (p.Asp55Gly)
NM_000246.4(CIITA):c.1651G>C (p.Gly551Arg)
NM_000246.4(CIITA):c.1654C>A (p.Arg552Ser)
NM_000246.4(CIITA):c.1685C>A (p.Ala562Asp)
NM_000246.4(CIITA):c.1719G>T (p.Gln573His)
NM_000246.4(CIITA):c.1720G>A (p.Ala574Thr) rs148543906
NM_000246.4(CIITA):c.1739G>T (p.Arg580Leu) rs140269818
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.174AGA[2] (p.Glu61del) rs2038022645
NM_000246.4(CIITA):c.1765G>A (p.Glu589Lys) rs2039233689
NM_000246.4(CIITA):c.1768C>A (p.His590Asn) rs2039234162
NM_000246.4(CIITA):c.1801C>G (p.Arg601Gly) rs569634954
NM_000246.4(CIITA):c.1801C>T (p.Arg601Trp) rs569634954
NM_000246.4(CIITA):c.1844G>A (p.Arg615Gln) rs769140062
NM_000246.4(CIITA):c.1849G>A (p.Val617Met) rs1464337726
NM_000246.4(CIITA):c.185T>C (p.Ile62Thr)
NM_000246.4(CIITA):c.1888G>A (p.Asp630Asn) rs2039242557
NM_000246.4(CIITA):c.1891G>A (p.Ala631Thr)
NM_000246.4(CIITA):c.1891G>T (p.Ala631Ser) rs776090698
NM_000246.4(CIITA):c.190C>T (p.Leu64Phe) rs2144284508
NM_000246.4(CIITA):c.1916G>T (p.Gly639Val) rs376577994
NM_000246.4(CIITA):c.1924G>A (p.Val642Ile)
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys) rs949731275
NM_000246.4(CIITA):c.1939C>A (p.Arg647Ser) rs372705496
NM_000246.4(CIITA):c.1951G>A (p.Asp651Asn)
NM_000246.4(CIITA):c.1956C>G (p.Ser652Arg)
NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.4(CIITA):c.1957C>T (p.Pro653Ser) rs199476071
NM_000246.4(CIITA):c.1960C>G (p.Pro654Ala)
NM_000246.4(CIITA):c.1961C>A (p.Pro654His)
NM_000246.4(CIITA):c.1963G>C (p.Gly655Arg) rs919087827
NM_000246.4(CIITA):c.196T>G (p.Ser66Ala)
NM_000246.4(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.4(CIITA):c.1975G>C (p.Glu659Gln)
NM_000246.4(CIITA):c.1977G>T (p.Glu659Asp)
NM_000246.4(CIITA):c.1984_1992dup (p.Ala664_Trp665insLysLeuAla)
NM_000246.4(CIITA):c.199+6C>T rs778670190
NM_000246.4(CIITA):c.200-17G>A rs2144298630
NM_000246.4(CIITA):c.2035C>A (p.Gln679Lys)
NM_000246.4(CIITA):c.2053G>C (p.Val685Leu) rs148144155
NM_000246.4(CIITA):c.2053G>T (p.Val685Leu) rs148144155
NM_000246.4(CIITA):c.2065G>A (p.Ala689Thr) rs2039258272
NM_000246.4(CIITA):c.2066C>G (p.Ala689Gly)
NM_000246.4(CIITA):c.2072C>T (p.Ala691Val)
NM_000246.4(CIITA):c.2077G>C (p.Gly693Arg)
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp) rs146380734
NM_000246.4(CIITA):c.2081T>C (p.Leu694Ser) rs1029760849
NM_000246.4(CIITA):c.2111C>T (p.Ser704Phe)
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2114A>T (p.Glu705Val)
NM_000246.4(CIITA):c.2117T>G (p.Leu706Arg) rs1476149752
NM_000246.4(CIITA):c.2142A>G (p.Gln714=) rs188988714
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.4(CIITA):c.2179G>A (p.Glu727Lys) rs548646642
NM_000246.4(CIITA):c.2201C>T (p.Pro734Leu)
NM_000246.4(CIITA):c.2229G>T (p.Lys743Asn) rs2144735743
NM_000246.4(CIITA):c.2235G>C (p.Arg745Ser) rs2039273405
NM_000246.4(CIITA):c.2237C>T (p.Pro746Leu) rs374855163
NM_000246.4(CIITA):c.2254G>C (p.Glu752Gln)
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) rs754313400
NM_000246.4(CIITA):c.2260G>A (p.Val754Met) rs757699642
NM_000246.4(CIITA):c.2296C>T (p.Pro766Ser)
NM_000246.4(CIITA):c.2299G>A (p.Ala767Thr)
NM_000246.4(CIITA):c.2302C>A (p.Arg768Ser) rs200144896
NM_000246.4(CIITA):c.2302C>T (p.Arg768Cys)
NM_000246.4(CIITA):c.2320C>T (p.Leu774Phe) rs2144738107
NM_000246.4(CIITA):c.2323G>A (p.Gly775Arg)
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) rs34685848
NM_000246.4(CIITA):c.2342C>G (p.Ser781Trp) rs13330686
NM_000246.4(CIITA):c.2348A>C (p.Asp783Ala) rs771514619
NM_000246.4(CIITA):c.2357A>G (p.Gln786Arg) rs2144739658
NM_000246.4(CIITA):c.2365C>T (p.Leu789Phe) rs2144739803
NM_000246.4(CIITA):c.2368G>T (p.Ala790Ser)
NM_000246.4(CIITA):c.2377C>G (p.Leu793Val) rs34082539
NM_000246.4(CIITA):c.2383C>T (p.Arg795Trp)
NM_000246.4(CIITA):c.2396G>A (p.Gly799Glu) rs267604408
NM_000246.4(CIITA):c.2411G>A (p.Arg804Gln)
NM_000246.4(CIITA):c.2422G>C (p.Glu808Gln) rs2144741760
NM_000246.4(CIITA):c.2437G>A (p.Ala813Thr)
NM_000246.4(CIITA):c.2455G>C (p.Ala819Pro)
NM_000246.4(CIITA):c.2473G>A (p.Val825Met) rs773619622
NM_000246.4(CIITA):c.2491G>A (p.Gly831Ser)
NM_000246.4(CIITA):c.2494C>T (p.Arg832Cys) rs778521786
NM_000246.4(CIITA):c.2495G>A (p.Arg832His)
NM_000246.4(CIITA):c.2507T>C (p.Leu836Pro)
NM_000246.4(CIITA):c.2510G>A (p.Gly837Asp) rs2039296050
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.2516G>A (p.Arg839His)
NM_000246.4(CIITA):c.2522C>G (p.Thr841Arg) rs1159888268
NM_000246.4(CIITA):c.2522C>T (p.Thr841Met)
NM_000246.4(CIITA):c.2537A>G (p.His846Arg)
NM_000246.4(CIITA):c.2539G>C (p.Val847Leu)
NM_000246.4(CIITA):c.2546G>T (p.Gly849Val)
NM_000246.4(CIITA):c.2557G>A (p.Glu853Lys)
NM_000246.4(CIITA):c.2609C>T (p.Pro870Leu)
NM_000246.4(CIITA):c.2614G>A (p.Gly872Arg)
NM_000246.4(CIITA):c.2625C>G (p.Ser875Arg) rs775002771
NM_000246.4(CIITA):c.2629G>A (p.Val877Met)
NM_000246.4(CIITA):c.2657+4G>A rs1596557195
NM_000246.4(CIITA):c.2657+6G>A
NM_000246.4(CIITA):c.2658-10C>T rs1337213724
NM_000246.4(CIITA):c.2677G>A (p.Val893Met) rs1465075738
NM_000246.4(CIITA):c.2681C>T (p.Ala894Val)
NM_000246.4(CIITA):c.2698_2699inv (p.Gln900Trp)
NM_000246.4(CIITA):c.2714C>A (p.Thr905Asn)
NM_000246.4(CIITA):c.2717A>G (p.Lys906Arg) rs1477380659
NM_000246.4(CIITA):c.2718G>C (p.Lys906Asn)
NM_000246.4(CIITA):c.2725C>A (p.Gln909Lys) rs2039378892
NM_000246.4(CIITA):c.2734G>A (p.Glu912Lys) rs2039379898
NM_000246.4(CIITA):c.2755C>G (p.Pro919Ala) rs1302154334
NM_000246.4(CIITA):c.275G>A (p.Arg92Lys)
NM_000246.4(CIITA):c.2765C>T (p.Ala922Val)
NM_000246.4(CIITA):c.276G>T (p.Arg92Ser) rs149531285
NM_000246.4(CIITA):c.2770T>A (p.Ser924Thr) rs2144770348
NM_000246.4(CIITA):c.2773C>A (p.Leu925Met)
NM_000246.4(CIITA):c.2785G>A (p.Glu929Lys)
NM_000246.4(CIITA):c.2786A>G (p.Glu929Gly)
NM_000246.4(CIITA):c.2816+14C>T rs191941806
NM_000246.4(CIITA):c.2830T>C (p.Ser944Pro) rs2039465103
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.2846G>T (p.Gly949Val)
NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly) rs867193240
NM_000246.4(CIITA):c.2888C>T (p.Ala963Val)
NM_000246.4(CIITA):c.2889-9G>T rs1021930842
NM_000246.4(CIITA):c.2919C>G (p.Phe973Leu) rs199886989
NM_000246.4(CIITA):c.2932C>T (p.Arg978Trp) rs1003764418
NM_000246.4(CIITA):c.2942C>T (p.Thr981Met) rs369744959
NM_000246.4(CIITA):c.2965C>G (p.Leu989Val) rs1256846733
NM_000246.4(CIITA):c.2974G>A (p.Asp992Asn) rs2039949687
NM_000246.4(CIITA):c.297G>A (p.Ala99=) rs757438997
NM_000246.4(CIITA):c.2985T>G (p.Ser995Arg) rs1235099545
NM_000246.4(CIITA):c.2987A>C (p.Glu996Ala)
NM_000246.4(CIITA):c.2T>G (p.Met1Arg)
NM_000246.4(CIITA):c.3008G>T (p.Gly1003Val) rs766239596
NM_000246.4(CIITA):c.3016C>A (p.Gln1006Lys)
NM_000246.4(CIITA):c.3025_3026delinsAA (p.Ala1009Asn) rs1596593191
NM_000246.4(CIITA):c.3062+14G>A rs370557976
NM_000246.4(CIITA):c.3088C>G (p.Leu1030Val) rs763766993
NM_000246.4(CIITA):c.3106G>T (p.Ala1036Ser) rs775994032
NM_000246.4(CIITA):c.311A>T (p.Tyr104Phe) rs747941848
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.3149+6_3149+12del
NM_000246.4(CIITA):c.3170G>A (p.Cys1057Tyr)
NM_000246.4(CIITA):c.3184G>A (p.Glu1062Lys)
NM_000246.4(CIITA):c.3196C>T (p.Arg1066Cys)
NM_000246.4(CIITA):c.319C>G (p.Gln107Glu) rs1292657015
NM_000246.4(CIITA):c.3223C>T (p.Arg1075Trp)
NM_000246.4(CIITA):c.3239A>G (p.Gln1080Arg)
NM_000246.4(CIITA):c.323A>T (p.Asp108Val)
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.3318G>A (p.Ala1106=) rs2145172165
NM_000246.4(CIITA):c.331C>A (p.Leu111Met) rs368329679
NM_000246.4(CIITA):c.331C>G (p.Leu111Val)
NM_000246.4(CIITA):c.3326C>G (p.Thr1109Arg) rs1013962316
NM_000246.4(CIITA):c.3329C>A (p.Pro1110His)
NM_000246.4(CIITA):c.3346G>A (p.Val1116Ile) rs1283110743
NM_000246.4(CIITA):c.3352G>A (p.Glu1118Lys) rs1555509348
NM_000246.4(CIITA):c.3361C>A (p.Gln1121Lys) rs2145173097
NM_000246.4(CIITA):c.3368A>G (p.Gln1123Arg)
NM_000246.4(CIITA):c.3376C>T (p.Arg1126Trp) rs753124646
NM_000246.4(CIITA):c.364A>G (p.Ile122Val) rs569955853
NM_000246.4(CIITA):c.365T>C (p.Ile122Thr) rs764371715
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.385G>A (p.Gly129Ser)
NM_000246.4(CIITA):c.385G>C (p.Gly129Arg) rs751742953
NM_000246.4(CIITA):c.386G>A (p.Gly129Asp) rs1447982238
NM_000246.4(CIITA):c.397G>A (p.Glu133Lys) rs1398227497
NM_000246.4(CIITA):c.412G>T (p.Val138Phe) rs2038427463
NM_000246.4(CIITA):c.436+3G>C rs2038430186
NM_000246.4(CIITA):c.436C>T (p.Pro146Ser)
NM_000246.4(CIITA):c.437C>G (p.Pro146Arg) rs770295658
NM_000246.4(CIITA):c.446A>G (p.Glu149Gly) rs773558566
NM_000246.4(CIITA):c.451C>A (p.Leu151Ile)
NM_000246.4(CIITA):c.481+10G>T rs2144538393
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg) rs886051637
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.494C>A (p.Thr165Asn) rs34648899
NM_000246.4(CIITA):c.494C>T (p.Thr165Ile) rs34648899
NM_000246.4(CIITA):c.4C>A (p.Arg2Ser) rs375497479
NM_000246.4(CIITA):c.511C>G (p.Leu171Val) rs901206559
NM_000246.4(CIITA):c.532G>A (p.Asp178Asn)
NM_000246.4(CIITA):c.533A>T (p.Asp178Val) rs2144555951
NM_000246.4(CIITA):c.534C>A (p.Asp178Glu) rs2038813457
NM_000246.4(CIITA):c.567G>C (p.Ala189=) rs143123121
NM_000246.4(CIITA):c.583C>A (p.Pro195Thr) rs1462945790
NM_000246.4(CIITA):c.607G>A (p.Glu203Lys) rs529296576
NM_000246.4(CIITA):c.616G>T (p.Asp206Tyr) rs771338224
NM_000246.4(CIITA):c.628+4T>A rs2038824184
NM_000246.4(CIITA):c.632C>A (p.Pro211His) rs2038865646
NM_000246.4(CIITA):c.635T>C (p.Phe212Ser) rs2144580744
NM_000246.4(CIITA):c.649T>C (p.Leu217=) rs773897183
NM_000246.4(CIITA):c.654C>A (p.Ser218Arg) rs369197968
NM_000246.4(CIITA):c.685T>C (p.Phe229Leu)
NM_000246.4(CIITA):c.695C>A (p.Thr232Asn)
NM_000246.4(CIITA):c.701C>G (p.Ser234Cys)
NM_000246.4(CIITA):c.701C>T (p.Ser234Phe)
NM_000246.4(CIITA):c.718C>T (p.Leu240Phe)
NM_000246.4(CIITA):c.719T>C (p.Leu240Pro)
NM_000246.4(CIITA):c.724C>A (p.Gln242Lys)
NM_000246.4(CIITA):c.740G>A (p.Gly247Glu) rs2038873856
NM_000246.4(CIITA):c.746G>A (p.Gly249Glu)
NM_000246.4(CIITA):c.773-11C>T rs767721211
NM_000246.4(CIITA):c.773-9C>G rs756972663
NM_000246.4(CIITA):c.789C>G (p.Ala263=) rs2038944749
NM_000246.4(CIITA):c.791G>A (p.Ser264Asn) rs2038944863
NM_000246.4(CIITA):c.800C>A (p.Pro267His) rs1177628564
NM_000246.4(CIITA):c.823C>T (p.His275Tyr)
NM_000246.4(CIITA):c.839C>T (p.Ser280Phe)
NM_000246.4(CIITA):c.848G>A (p.Arg283Gln)
NM_000246.4(CIITA):c.854G>A (p.Gly285Asp) rs752824545
NM_000246.4(CIITA):c.872C>T (p.Ala291Val)
NM_000246.4(CIITA):c.888C>A (p.Asp296Glu)
NM_000246.4(CIITA):c.890T>G (p.Leu297Arg)
NM_000246.4(CIITA):c.898A>C (p.Met300Leu) rs747702495
NM_000246.4(CIITA):c.89T>C (p.Leu30Pro) rs2038013360
NM_000246.4(CIITA):c.904G>C (p.Glu302Gln) rs2144617207
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.950C>T (p.Ser317Phe)
NM_000246.4(CIITA):c.961T>C (p.Cys321Arg) rs2039023316
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000246.4(CIITA):c.970G>T (p.Ala324Ser) rs774352830
NM_000246.4(CIITA):c.971C>T (p.Ala324Val) rs759389220
NM_000246.4(CIITA):c.974G>A (p.Gly325Glu) rs775466036
NM_000246.4(CIITA):c.978G>C (p.Glu326Asp)
NM_000246.4(CIITA):c.979G>A (p.Val327Ile) rs148597952
NM_000246.4(CIITA):c.985A>C (p.Asn329His)
NM_000246.4(CIITA):c.989A>G (p.Lys330Arg)
NM_000246.4(CIITA):c.997A>G (p.Lys333Glu)

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