ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 989
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
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.-84C>T rs45519531 0.00447
NM_000538.3(RFXAP):c.*1826delT rs142735439 0.00435
NM_000246.4(CIITA):c.*414T>C rs141707720 0.00346
NM_001025603.2(RFX5):c.*1520_*1521insATT rs529662057 0.00330
NM_000246.4(CIITA):c.*927G>A rs45538933 0.00239
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_001025603.2(RFX5):c.*838A>G rs552790524 0.00197
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972 0.00165
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
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_001025603.2(RFX5):c.-91G>A rs555635380 0.00081
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_000538.4(RFXAP):c.788G>A (p.Arg263Lys) rs144169233 0.00061
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319 0.00053
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_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_000246.4(CIITA):c.*126G>A rs565569961 0.00039
NM_000538.4(RFXAP):c.-101T>G rs566055344 0.00037
NM_000538.4(RFXAP):c.-82G>C rs1049387935 0.00036
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_001025603.2(RFX5):c.*1158G>A rs147378847 0.00035
NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys) rs150729244 0.00034
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_003721.4(RFXANK):c.-298C>T rs573479798 0.00030
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000538.3(RFXAP):c.*1730G>A rs559608963 0.00027
NM_000538.4(RFXAP):c.*818A>G rs545155315 0.00027
NM_000538.4(RFXAP):c.456G>C (p.Gln152His) rs201926069 0.00026
NM_001025603.2(RFX5):c.*1177C>T rs567453441 0.00025
NM_001025603.2(RFX5):c.851T>C (p.Leu284Pro) rs149605765 0.00025
NM_001025603.2(RFX5):c.914G>A (p.Arg305Gln) rs374354196 0.00025
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000246.4(CIITA):c.826G>A (p.Gly276Ser) rs142461515 0.00022
NM_001025603.2(RFX5):c.*373G>T rs886045280 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_001025603.2(RFX5):c.*364A>C rs769251514 0.00021
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00021
NM_001025603.2(RFX5):c.892G>A (p.Gly298Ser) rs146341254 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_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_001025603.2(RFX5):c.-131-15T>C rs190371864 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_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_000246.4(CIITA):c.-83C>T rs534663824 0.00015
NM_000538.4(RFXAP):c.*201T>A rs530498685 0.00015
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_003721.4(RFXANK):c.660C>T (p.Ala220=) rs138423094 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123 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_000538.3(RFXAP):c.*1551A>G rs939525340 0.00011
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) rs752109217 0.00011
NM_003721.4(RFXANK):c.349G>A (p.Val117Ile) rs145448880 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 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_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759 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_001025603.2(RFX5):c.1159A>G (p.Thr387Ala) rs147822761 0.00009
NM_001025603.2(RFX5):c.1409G>A (p.Arg470Gln) rs138131380 0.00009
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_001025603.2(RFX5):c.382C>T (p.Arg128Cys) rs771181740 0.00009
NM_001025603.2(RFX5):c.884C>T (p.Thr295Ile) rs367615574 0.00009
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634 0.00009
NM_003721.4(RFXANK):c.337+5G>A rs752168879 0.00009
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407 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_001025603.2(RFX5):c.*1078C>T rs886045278 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.20G>A (p.Arg7His) rs374703179 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_001025603.2(RFX5):c.881G>A (p.Arg294Gln) rs777652681 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.19C>T (p.Arg7Cys) rs202176090 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.44A>G (p.Glu15Gly) rs572170388 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_000538.4(RFXAP):c.236G>A (p.Gly79Glu) rs1458111935 0.00006
NM_000538.4(RFXAP):c.573T>A (p.Thr191=) rs200198351 0.00006
NM_001025603.2(RFX5):c.1322C>G (p.Ala441Gly) rs148572733 0.00006
NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser) rs147579805 0.00006
NM_001025603.2(RFX5):c.474-3C>A rs373984217 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502 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_000538.4(RFXAP):c.14G>T (p.Gly5Val) rs571468892 0.00005
NM_000538.4(RFXAP):c.341A>T (p.Glu114Val) rs957064804 0.00005
NM_000538.4(RFXAP):c.543G>C (p.Gln181His) rs142778056 0.00005
NM_001025603.2(RFX5):c.*1330C>T rs886045276 0.00005
NM_001025603.2(RFX5):c.1399G>A (p.Gly467Arg) rs771929451 0.00005
NM_001025603.2(RFX5):c.514A>G (p.Met172Val) rs767055616 0.00005
NM_001025603.2(RFX5):c.860C>T (p.Pro287Leu) rs771016197 0.00005
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe) rs142461365 0.00005
NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) rs764895631 0.00005
NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys) rs749859039 0.00005
NM_003721.4(RFXANK):c.62T>C (p.Leu21Pro) rs761951873 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_000538.4(RFXAP):c.148C>A (p.Gln50Lys) rs1267956141 0.00004
NM_000538.4(RFXAP):c.273C>G (p.Asp91Glu) rs770867769 0.00004
NM_000538.4(RFXAP):c.401G>A (p.Gly134Glu) rs530562598 0.00004
NM_000538.4(RFXAP):c.625A>G (p.Ile209Val) rs374481240 0.00004
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1211G>A (p.Gly404Glu) rs142021660 0.00004
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn) rs371115213 0.00004
NM_001025603.2(RFX5):c.383G>A (p.Arg128His) rs377555466 0.00004
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_001025603.2(RFX5):c.547T>C (p.Ser183Pro) rs192832486 0.00004
NM_001025603.2(RFX5):c.716G>A (p.Arg239Gln) rs563701437 0.00004
NM_001025603.2(RFX5):c.766G>A (p.Glu256Lys) rs779122234 0.00004
NM_001025603.2(RFX5):c.833A>T (p.His278Leu) rs769764756 0.00004
NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu) rs545211228 0.00004
NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser) rs373342097 0.00004
NM_003721.4(RFXANK):c.596G>A (p.Arg199His) rs769155207 0.00004
NM_003721.4(RFXANK):c.612A>G (p.Lys204=) rs201676379 0.00004
NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg) rs559367724 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_000538.4(RFXAP):c.-116C>G rs886050141 0.00003
NM_000538.4(RFXAP):c.118G>T (p.Ala40Ser) rs1320172546 0.00003
NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg) rs758076793 0.00003
NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro) rs777571548 0.00003
NM_000538.4(RFXAP):c.55C>T (p.Pro19Ser) rs1483760429 0.00003
NM_000538.4(RFXAP):c.801T>C (p.Phe267=) rs536976297 0.00003
NM_000538.4(RFXAP):c.814A>G (p.Met272Val) rs772726674 0.00003
NM_001025603.2(RFX5):c.1325G>C (p.Ser442Thr) rs756299731 0.00003
NM_001025603.2(RFX5):c.1384G>C (p.Ala462Pro) rs1049115102 0.00003
NM_001025603.2(RFX5):c.1393A>C (p.Lys465Gln) rs375408133 0.00003
NM_001025603.2(RFX5):c.778C>T (p.Arg260Trp) rs573462368 0.00003
NM_001025603.2(RFX5):c.785G>A (p.Arg262Gln) rs770446657 0.00003
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604 0.00003
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384 0.00003
NM_003721.4(RFXANK):c.677C>T (p.Pro226Leu) rs377347305 0.00003
NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly) rs761097826 0.00003
NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser) rs759707164 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_000538.4(RFXAP):c.397G>T (p.Gly133Cys) rs751361768 0.00002
NM_000538.4(RFXAP):c.733G>C (p.Val245Leu) rs1267840324 0.00002
NM_001025603.2(RFX5):c.*881C>T rs1245339817 0.00002
NM_001025603.2(RFX5):c.1079T>C (p.Leu360Pro) rs778736083 0.00002
NM_001025603.2(RFX5):c.1169C>G (p.Ala390Gly) rs747657030 0.00002
NM_001025603.2(RFX5):c.1202C>T (p.Ala401Val) rs754036790 0.00002
NM_001025603.2(RFX5):c.1228C>T (p.Arg410Trp) rs760069839 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr) rs966468525 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.641G>A (p.Arg214Gln) rs774928260 0.00002
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_001025603.2(RFX5):c.901G>A (p.Ala301Thr) rs751882814 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.287A>G (p.Gln96Arg) rs775653093 0.00002
NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr) rs149659335 0.00002
NM_003721.4(RFXANK):c.305A>T (p.Glu102Val) rs766230948 0.00002
NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr) rs780019385 0.00002
NM_003721.4(RFXANK):c.536G>A (p.Arg179His) rs562901844 0.00002
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) rs748578827 0.00002
NM_003721.4(RFXANK):c.599G>C (p.Gly200Ala) rs772154823 0.00002
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948 0.00002
NM_003721.4(RFXANK):c.64G>C (p.Gly22Arg) rs968833538 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.-82G>A rs886051635 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.38T>C (p.Leu13Pro) rs753169767 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_000538.3(RFXAP):c.*1387T>C rs886050145 0.00001
NM_000538.3(RFXAP):c.*1703A>T rs997203433 0.00001
NM_000538.3(RFXAP):c.-144G>A rs886050140 0.00001
NM_000538.4(RFXAP):c.*351G>A rs1396109192 0.00001
NM_000538.4(RFXAP):c.*488A>G rs1265459000 0.00001
NM_000538.4(RFXAP):c.-131C>T rs1021353605 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.184G>A (p.Gly62Arg) rs2057954457 0.00001
NM_000538.4(RFXAP):c.265G>C (p.Glu89Gln) rs1290515755 0.00001
NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe) rs985061791 0.00001
NM_000538.4(RFXAP):c.287C>T (p.Ser96Leu) rs749368415 0.00001
NM_000538.4(RFXAP):c.302G>A (p.Gly101Glu) rs1474685587 0.00001
NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu) rs1227387067 0.00001
NM_000538.4(RFXAP):c.398G>T (p.Gly133Val) rs936769962 0.00001
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val) rs1344939848 0.00001
NM_000538.4(RFXAP):c.455A>G (p.Gln152Arg) rs373832619 0.00001
NM_000538.4(RFXAP):c.503A>G (p.Lys168Arg) rs1437034327 0.00001
NM_000538.4(RFXAP):c.59A>G (p.His20Arg) rs775615242 0.00001
NM_000538.4(RFXAP):c.658C>T (p.Arg220Cys) rs528882868 0.00001
NM_000538.4(RFXAP):c.673A>G (p.Thr225Ala) rs2057975347 0.00001
NM_000538.4(RFXAP):c.715C>G (p.Leu239Val) rs774923624 0.00001
NM_001025603.2(RFX5):c.*1252C>G rs886045277 0.00001
NM_001025603.2(RFX5):c.*29T>G rs1650494131 0.00001
NM_001025603.2(RFX5):c.*661T>C rs1650447532 0.00001
NM_001025603.2(RFX5):c.1003C>T (p.Arg335Trp) rs200857099 0.00001
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1142T>C (p.Ile381Thr) rs775881643 0.00001
NM_001025603.2(RFX5):c.1178G>C (p.Gly393Ala) rs779249436 0.00001
NM_001025603.2(RFX5):c.1201G>A (p.Ala401Thr) rs1225475866 0.00001
NM_001025603.2(RFX5):c.1207C>G (p.Pro403Ala) rs760699089 0.00001
NM_001025603.2(RFX5):c.1252G>A (p.Gly418Ser) rs150702096 0.00001
NM_001025603.2(RFX5):c.1298C>T (p.Thr433Ile) rs946314298 0.00001
NM_001025603.2(RFX5):c.1403G>A (p.Arg468His) rs778751859 0.00001
NM_001025603.2(RFX5):c.1406C>T (p.Pro469Leu) rs756355701 0.00001
NM_001025603.2(RFX5):c.1415A>T (p.Lys472Met) rs1265793800 0.00001
NM_001025603.2(RFX5):c.1445C>T (p.Thr482Ile) rs1245539885 0.00001
NM_001025603.2(RFX5):c.1510G>A (p.Gly504Ser) rs372047964 0.00001
NM_001025603.2(RFX5):c.1511G>A (p.Gly504Asp) rs1211796527 0.00001
NM_001025603.2(RFX5):c.1588C>G (p.Leu530Val) rs774380605 0.00001
NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn) rs750907232 0.00001
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_001025603.2(RFX5):c.1775A>G (p.Asn592Ser) rs1249805600 0.00001
NM_001025603.2(RFX5):c.1849del (p.Ter617AspextTer?) rs926636230 0.00001
NM_001025603.2(RFX5):c.254G>A (p.Ser85Asn) rs1650861450 0.00001
NM_001025603.2(RFX5):c.256A>G (p.Asn86Asp) rs140430054 0.00001
NM_001025603.2(RFX5):c.310A>G (p.Thr104Ala) rs763695749 0.00001
NM_001025603.2(RFX5):c.377G>C (p.Cys126Ser) rs199838456 0.00001
NM_001025603.2(RFX5):c.385C>T (p.Pro129Ser) rs1486774899 0.00001
NM_001025603.2(RFX5):c.415A>G (p.Ile139Val) rs1363432272 0.00001
NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln) rs137853099 0.00001
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly) rs1267411733 0.00001
NM_001025603.2(RFX5):c.557C>A (p.Pro186Gln) rs751651095 0.00001
NM_001025603.2(RFX5):c.566G>T (p.Gly189Val) rs763597435 0.00001
NM_001025603.2(RFX5):c.584C>T (p.Ala195Val) rs1161918393 0.00001
NM_001025603.2(RFX5):c.635C>G (p.Ala212Gly) rs940480924 0.00001
NM_001025603.2(RFX5):c.652C>T (p.Arg218Trp) rs908948599 0.00001
NM_001025603.2(RFX5):c.653G>A (p.Arg218Gln) rs771537001 0.00001
NM_001025603.2(RFX5):c.698A>G (p.Gln233Arg) rs1359830713 0.00001
NM_001025603.2(RFX5):c.730C>A (p.His244Asn) rs754211715 0.00001
NM_001025603.2(RFX5):c.905G>A (p.Arg302His) rs780878545 0.00001
NM_003721.4(RFXANK):c.112G>A (p.Val38Met) rs1290480803 0.00001
NM_003721.4(RFXANK):c.175T>G (p.Ser59Ala) rs1197099934 0.00001
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) rs368808881 0.00001
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) rs779382779 0.00001
NM_003721.4(RFXANK):c.272-3C>T rs781550325 0.00001
NM_003721.4(RFXANK):c.367C>T (p.Arg123Cys) rs775003911 0.00001
NM_003721.4(RFXANK):c.368G>A (p.Arg123His) rs762597760 0.00001
NM_003721.4(RFXANK):c.370G>A (p.Gly124Ser) rs377750233 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.438+4C>T rs749058206 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala) rs1156936548 0.00001
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) rs886054309 0.00001
NM_003721.4(RFXANK):c.540C>T (p.Asp180=) rs576657199 0.00001
NM_003721.4(RFXANK):c.589G>A (p.Ala197Thr) rs745335142 0.00001
NM_003721.4(RFXANK):c.661G>A (p.Asp221Asn) rs1479307125 0.00001
NM_003721.4(RFXANK):c.721G>T (p.Val241Leu) rs769532234 0.00001
NC_000001.10:g.(?_149895434)_(156851434_?)dup
NC_000013.10:g.(?_37399545)_(37401890_?)del
NC_000016.9:g.(?_8829597)_(11650586_?)dup
NC_000019.9:g.(?_19312438)_(19312528_?)dup
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.14C>G (p.Ala5Gly) rs1596412331
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.19C>A (p.Arg7Ser)
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.23C>G (p.Pro8Arg)
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.47C>T (p.Pro16Leu) rs2035926531
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)
NM_000538.3(RFXAP):c.*1431_*1432delGT rs886050146
NM_000538.3(RFXAP):c.*1541G>C rs2057988057
NM_000538.3(RFXAP):c.*1663G>A rs886050147
NM_000538.3(RFXAP):c.-142T>C rs2057951998
NM_000538.4(RFXAP):c.*1240G>T rs886050144
NM_000538.4(RFXAP):c.*660A>T rs2057985302
NM_000538.4(RFXAP):c.*81G>A rs886050143
NM_000538.4(RFXAP):c.-105C>A rs527311083
NM_000538.4(RFXAP):c.101C>G (p.Pro34Arg) rs2057953877
NM_000538.4(RFXAP):c.108_125del (p.Val37_Ser42del) rs1266956441
NM_000538.4(RFXAP):c.115G>C (p.Ala39Pro) rs1024812180
NM_000538.4(RFXAP):c.150A>T (p.Gln50His) rs761195790
NM_000538.4(RFXAP):c.152C>T (p.Pro51Leu) rs2057954189
NM_000538.4(RFXAP):c.154T>C (p.Cys52Arg)
NM_000538.4(RFXAP):c.160G>C (p.Gly54Arg) rs2057954224
NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr) rs867140153
NM_000538.4(RFXAP):c.182C>G (p.Pro61Arg) rs868311919
NM_000538.4(RFXAP):c.204C>T (p.Gly68=) rs2057954653
NM_000538.4(RFXAP):c.20C>T (p.Ala7Val)
NM_000538.4(RFXAP):c.214A>G (p.Arg72Gly)
NM_000538.4(RFXAP):c.227A>G (p.Glu76Gly)
NM_000538.4(RFXAP):c.281A>C (p.Asp94Ala)
NM_000538.4(RFXAP):c.290A>T (p.Asp97Val)
NM_000538.4(RFXAP):c.292C>A (p.Pro98Thr) rs2057955091
NM_000538.4(RFXAP):c.298G>A (p.Gly100Arg)
NM_000538.4(RFXAP):c.298G>C (p.Gly100Arg) rs774581579
NM_000538.4(RFXAP):c.298G>T (p.Gly100Trp)
NM_000538.4(RFXAP):c.29C>T (p.Ala10Val)
NM_000538.4(RFXAP):c.2T>C (p.Met1Thr) rs2057953200
NM_000538.4(RFXAP):c.302G>C (p.Gly101Ala) rs1474685587
NM_000538.4(RFXAP):c.331C>A (p.Leu111Ile)
NM_000538.4(RFXAP):c.343G>A (p.Glu115Lys) rs1593530039
NM_000538.4(RFXAP):c.358G>A (p.Gly120Ser)
NM_000538.4(RFXAP):c.359G>A (p.Gly120Asp) rs199978715
NM_000538.4(RFXAP):c.413G>A (p.Ser138Asn) rs1555302500
NM_000538.4(RFXAP):c.419C>T (p.Thr140Ile) rs2057955904
NM_000538.4(RFXAP):c.424A>G (p.Thr142Ala)
NM_000538.4(RFXAP):c.436T>C (p.Cys146Arg)
NM_000538.4(RFXAP):c.457G>T (p.Val153Leu) rs1323637306
NM_000538.4(RFXAP):c.467A>G (p.Gln156Arg) rs1566318990
NM_000538.4(RFXAP):c.51C>T (p.Gly17=) rs2138212292
NM_000538.4(RFXAP):c.527AGA[2] (p.Lys178del) rs1268345931
NM_000538.4(RFXAP):c.52G>T (p.Val18Leu) rs1232670161
NM_000538.4(RFXAP):c.58C>T (p.His20Tyr) rs1555302467
NM_000538.4(RFXAP):c.600+3A>T rs372895488
NM_000538.4(RFXAP):c.600+5C>G
NM_000538.4(RFXAP):c.601-4C>T rs886050142
NM_000538.4(RFXAP):c.615del (p.Asn205fs) rs2057975002
NM_000538.4(RFXAP):c.634_637del (p.Gln212fs) rs2057975113
NM_000538.4(RFXAP):c.674C>T (p.Thr225Ile)
NM_000538.4(RFXAP):c.709-7_709-4del rs749945016
NM_000538.4(RFXAP):c.718A>G (p.Arg240Gly)
NM_000538.4(RFXAP):c.719G>A (p.Arg240Lys) rs2057982517
NM_000538.4(RFXAP):c.722G>A (p.Ser241Asn)
NM_000538.4(RFXAP):c.742T>G (p.Leu248Val) rs2138218991
NM_000538.4(RFXAP):c.793C>T (p.Gln265Ter) rs972571212
NM_001025603.2(RFX5):c.*1118A>G rs755296550
NM_001025603.2(RFX5):c.*1166A>G rs1469541203
NM_001025603.2(RFX5):c.*1426A>G rs1650383710
NM_001025603.2(RFX5):c.*224T>C rs886045281
NM_001025603.2(RFX5):c.*694del rs570133232
NM_001025603.2(RFX5):c.*721G>T rs116610938
NM_001025603.2(RFX5):c.*761A>T rs1650440219
NM_001025603.2(RFX5):c.*985del rs886045279
NM_001025603.2(RFX5):c.-131-8C>A rs886045284
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln) rs759307276
NM_001025603.2(RFX5):c.1012C>T (p.Arg338Cys)
NM_001025603.2(RFX5):c.1013G>A (p.Arg338His)
NM_001025603.2(RFX5):c.1020_1022dup (p.Ile341dup) rs1571257755
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val) rs201420133
NM_001025603.2(RFX5):c.1033C>A (p.Pro345Thr)
NM_001025603.2(RFX5):c.1037T>A (p.Val346Asp) rs776636293
NM_001025603.2(RFX5):c.1037T>C (p.Val346Ala) rs776636293
NM_001025603.2(RFX5):c.1045C>T (p.Pro349Ser) rs1650620751
NM_001025603.2(RFX5):c.1058C>G (p.Pro353Arg)
NM_001025603.2(RFX5):c.1063C>G (p.Leu355Val)
NM_001025603.2(RFX5):c.1069T>G (p.Ser357Ala)
NM_001025603.2(RFX5):c.106G>C (p.Gly36Arg) rs1651042289
NM_001025603.2(RFX5):c.10G>A (p.Asp4Asn) rs1651053936
NM_001025603.2(RFX5):c.1109G>A (p.Arg370Lys) rs1402328710
NM_001025603.2(RFX5):c.1114G>A (p.Gly372Arg)
NM_001025603.2(RFX5):c.1114G>C (p.Gly372Arg) rs968244065
NM_001025603.2(RFX5):c.1150A>T (p.Ile384Phe) rs1478758721
NM_001025603.2(RFX5):c.115T>G (p.Ser39Ala)
NM_001025603.2(RFX5):c.1160C>G (p.Thr387Ser)
NM_001025603.2(RFX5):c.117-3C>T rs2102070585
NM_001025603.2(RFX5):c.1178G>A (p.Gly393Glu) rs779249436
NM_001025603.2(RFX5):c.1189G>A (p.Gly397Arg) rs2102060483
NM_001025603.2(RFX5):c.1225C>T (p.Pro409Ser) rs1650592357
NM_001025603.2(RFX5):c.1229G>A (p.Arg410Gln)
NM_001025603.2(RFX5):c.1247_1249dup (p.Glu416dup) rs1650586148
NM_001025603.2(RFX5):c.124G>A (p.Val42Met)
NM_001025603.2(RFX5):c.1250T>C (p.Val417Ala) rs1650585242
NM_001025603.2(RFX5):c.1255A>T (p.Ile419Leu) rs1650583011
NM_001025603.2(RFX5):c.1277A>G (p.His426Arg) rs1650578905
NM_001025603.2(RFX5):c.129G>A (p.Gln43=) rs1651009031
NM_001025603.2(RFX5):c.1301C>G (p.Ala434Gly) rs2102060054
NM_001025603.2(RFX5):c.1316G>T (p.Ser439Ile) rs1650574183
NM_001025603.2(RFX5):c.1322C>T (p.Ala441Val) rs148572733
NM_001025603.2(RFX5):c.1333G>A (p.Ala445Thr)
NM_001025603.2(RFX5):c.1333G>T (p.Ala445Ser) rs752775566
NM_001025603.2(RFX5):c.1334C>G (p.Ala445Gly) rs2102059942
NM_001025603.2(RFX5):c.1342_1343delinsTT (p.Ala448Phe) rs2102059917
NM_001025603.2(RFX5):c.1348G>A (p.Ala450Thr)
NM_001025603.2(RFX5):c.1363A>G (p.Ile455Val)
NM_001025603.2(RFX5):c.1372A>G (p.Thr458Ala)
NM_001025603.2(RFX5):c.1379G>T (p.Ser460Ile)
NM_001025603.2(RFX5):c.1380T>A (p.Ser460Arg)
NM_001025603.2(RFX5):c.1387A>G (p.Lys463Glu)
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp) rs1557830458
NM_001025603.2(RFX5):c.1420G>C (p.Gly474Arg)
NM_001025603.2(RFX5):c.1423G>A (p.Gly475Arg) rs1214801747
NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr) rs1650547272
NM_001025603.2(RFX5):c.1526G>A (p.Gly509Asp)
NM_001025603.2(RFX5):c.1582G>C (p.Ala528Pro)
NM_001025603.2(RFX5):c.1604dup (p.Asp536fs) rs1557829931
NM_001025603.2(RFX5):c.1648C>G (p.His550Asp) rs1386973231
NM_001025603.2(RFX5):c.1651A>G (p.Thr551Ala)
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.1685C>T (p.Pro562Leu)
NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu) rs2233856
NM_001025603.2(RFX5):c.1697G>A (p.Ser566Asn)
NM_001025603.2(RFX5):c.1715G>A (p.Arg572Lys)
NM_001025603.2(RFX5):c.1744A>G (p.Lys582Glu)
NM_001025603.2(RFX5):c.1748G>A (p.Gly583Glu) rs1421740629
NM_001025603.2(RFX5):c.1754T>G (p.Val585Gly)
NM_001025603.2(RFX5):c.1768del (p.Gln590fs) rs1650510452
NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser) rs1650509739
NM_001025603.2(RFX5):c.1779del (p.Asp594fs) rs2102058217
NM_001025603.2(RFX5):c.1816C>T (p.Gln606Ter) rs1650505010
NM_001025603.2(RFX5):c.1823A>G (p.His608Arg) rs1299164585
NM_001025603.2(RFX5):c.1838del (p.Ala613fs) rs1557829420
NM_001025603.2(RFX5):c.1847C>T (p.Pro616Leu)
NM_001025603.2(RFX5):c.214C>T (p.Pro72Ser) rs2102067902
NM_001025603.2(RFX5):c.21T>A (p.Asp7Glu) rs2102071642
NM_001025603.2(RFX5):c.290G>A (p.Arg97His) rs756804631
NM_001025603.2(RFX5):c.316A>G (p.Thr106Ala)
NM_001025603.2(RFX5):c.320G>C (p.Cys107Ser) rs1309670347
NM_001025603.2(RFX5):c.341ATG[1] (p.Asp115del)
NM_001025603.2(RFX5):c.345T>A (p.Asp115Glu) rs531565556
NM_001025603.2(RFX5):c.352C>T (p.Arg118Trp)
NM_001025603.2(RFX5):c.392G>A (p.Ser131Asn)
NM_001025603.2(RFX5):c.436A>C (p.Ile146Leu)
NM_001025603.2(RFX5):c.473A>G (p.Lys158Arg)
NM_001025603.2(RFX5):c.495G>T (p.Arg165Ser) rs1650787152
NM_001025603.2(RFX5):c.49G>T (p.Ala17Ser)
NM_001025603.2(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_001025603.2(RFX5):c.516G>A (p.Met172Ile)
NM_001025603.2(RFX5):c.543G>A (p.Lys181=) rs2102065030
NM_001025603.2(RFX5):c.544G>A (p.Gly182Ser)
NM_001025603.2(RFX5):c.544G>C (p.Gly182Arg) rs146781151
NM_001025603.2(RFX5):c.556-5T>G rs2102064223
NM_001025603.2(RFX5):c.56C>A (p.Pro19Gln)
NM_001025603.2(RFX5):c.56C>G (p.Pro19Arg) rs548049340
NM_001025603.2(RFX5):c.592G>A (p.Asp198Asn)
NM_001025603.2(RFX5):c.619C>G (p.Leu207Val) rs2102064014
NM_001025603.2(RFX5):c.635C>T (p.Ala212Val)
NM_001025603.2(RFX5):c.649A>G (p.Lys217Glu) rs2102063939
NM_001025603.2(RFX5):c.683G>A (p.Arg228His)
NM_001025603.2(RFX5):c.683G>C (p.Arg228Pro)
NM_001025603.2(RFX5):c.719C>G (p.Ser240Cys) rs1650729647
NM_001025603.2(RFX5):c.722C>T (p.Ala241Val) rs1256795581
NM_001025603.2(RFX5):c.775C>T (p.Pro259Ser) rs896685181
NM_001025603.2(RFX5):c.779G>A (p.Arg260Gln)
NM_001025603.2(RFX5):c.784C>G (p.Arg262Gly) rs773920954
NM_001025603.2(RFX5):c.784C>T (p.Arg262Trp) rs773920954
NM_001025603.2(RFX5):c.803A>G (p.Asn268Ser) rs1571258872
NM_001025603.2(RFX5):c.826G>A (p.Gly276Arg) rs2102062601
NM_001025603.2(RFX5):c.844G>C (p.Glu282Gln)
NM_001025603.2(RFX5):c.857A>G (p.Gln286Arg)
NM_001025603.2(RFX5):c.858+4A>G rs1650680698
NM_001025603.2(RFX5):c.858+6G>C rs1650680124
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_001025603.2(RFX5):c.859-3T>C
NM_001025603.2(RFX5):c.904C>G (p.Arg302Gly) rs757930556
NM_001025603.2(RFX5):c.922A>G (p.Ser308Gly)
NM_001025603.2(RFX5):c.923G>C (p.Ser308Thr) rs371591077
NM_001025603.2(RFX5):c.944C>T (p.Pro315Leu)
NM_001025603.2(RFX5):c.949G>C (p.Ala317Pro)
NM_001025603.2(RFX5):c.962A>G (p.Gln321Arg)
NM_001025603.2(RFX5):c.97A>G (p.Arg33Gly)
NM_001025603.2(RFX5):c.986T>C (p.Leu329Pro)
NM_003721.3(RFXANK):c.-495C>G rs886054308
NM_003721.4(RFXANK):c.148G>A (p.Val50Met)
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu) rs1364864540
NM_003721.4(RFXANK):c.169A>G (p.Ser57Gly)
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val) rs2060609779
NM_003721.4(RFXANK):c.25G>A (p.Asp9Asn)
NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) rs1568578747
NM_003721.4(RFXANK):c.285C>G (p.His95Gln) rs770144513
NM_003721.4(RFXANK):c.28C>G (p.Leu10Val) rs2060549059
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg) rs2060615482
NM_003721.4(RFXANK):c.31A>T (p.Ile11Phe) rs1009789125
NM_003721.4(RFXANK):c.380C>A (p.Pro127His)
NM_003721.4(RFXANK):c.380C>G (p.Pro127Arg)
NM_003721.4(RFXANK):c.400T>C (p.Phe134Leu) rs2146488425
NM_003721.4(RFXANK):c.404G>A (p.Gly135Glu)
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe) rs2060623718
NM_003721.4(RFXANK):c.410T>C (p.Ile137Thr)
NM_003721.4(RFXANK):c.418G>A (p.Val140Ile)
NM_003721.4(RFXANK):c.436T>G (p.Trp146Gly) rs1301129319
NM_003721.4(RFXANK):c.438+5G>T rs1196984337
NM_003721.4(RFXANK):c.449C>G (p.Pro150Arg) rs2146492497
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.47C>A (p.Thr16Asn) rs764499202
NM_003721.4(RFXANK):c.47C>T (p.Thr16Ile) rs764499202
NM_003721.4(RFXANK):c.485C>T (p.Ser162Leu) rs753776724
NM_003721.4(RFXANK):c.501C>T (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.524T>C (p.Leu175Pro) rs2060635912
NM_003721.4(RFXANK):c.533A>T (p.Glu178Val)
NM_003721.4(RFXANK):c.551A>G (p.Asn184Ser) rs140946419
NM_003721.4(RFXANK):c.564+6G>A rs928203836
NM_003721.4(RFXANK):c.575C>G (p.Thr192Arg)
NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile) rs1599785560
NM_003721.4(RFXANK):c.604C>T (p.His202Tyr)
NM_003721.4(RFXANK):c.606C>G (p.His202Gln) rs554811149
NM_003721.4(RFXANK):c.629T>C (p.Leu210Pro) rs2146496301
NM_003721.4(RFXANK):c.631G>A (p.Ala211Thr) rs1277340509
NM_003721.4(RFXANK):c.655G>A (p.Glu219Lys)
NM_003721.4(RFXANK):c.691G>A (p.Val231Met)
NM_003721.4(RFXANK):c.701G>A (p.Gly234Glu) rs2060654956
NM_003721.4(RFXANK):c.707G>A (p.Arg236Gln)
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003721.4(RFXANK):c.745C>G (p.Leu249Val)
NM_003721.4(RFXANK):c.77A>G (p.Asp26Gly)

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