ClinVar Miner

List of variants reported as likely benign for MHC class II deficiency

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1213
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.-116T>C rs1050483 0.17071
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_003721.4(RFXANK):c.-240A>T rs73922821 0.04278
NM_003721.4(RFXANK):c.-229C>T rs79003009 0.03213
NM_003721.4(RFXANK):c.712+4A>G rs73922830 0.03058
NM_003721.4(RFXANK):c.*9T>C rs73922832 0.03001
NM_003721.4(RFXANK):c.-366C>A rs116660619 0.02905
NM_001025603.2(RFX5):c.-67T>G rs138110902 0.00585
NM_000246.4(CIITA):c.*157C>T rs45526038 0.00565
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498 0.00545
NM_001025603.2(RFX5):c.*1413A>C rs368014716 0.00425
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000538.4(RFXAP):c.*479G>A rs117112761 0.00251
NM_000538.4(RFXAP):c.354G>C (p.Ser118=) rs113555392 0.00220
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_000538.4(RFXAP):c.*1194A>G rs11539183 0.00175
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000538.4(RFXAP):c.756A>G (p.Gln252=) rs141918438 0.00087
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.2322C>T (p.Leu774=) rs77072504 0.00056
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_001025603.2(RFX5):c.1185A>G (p.Gly395=) rs372560621 0.00046
NM_000246.4(CIITA):c.2816+15G>A rs45473496 0.00045
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.592G>A (p.Gly198Ser) rs148279688 0.00035
NM_000246.4(CIITA):c.-115T>G rs189636033 0.00031
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000246.4(CIITA):c.1053C>T (p.Ala351=) rs147912483 0.00024
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000246.4(CIITA):c.2888+13G>A rs149176307 0.00024
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_000538.4(RFXAP):c.477G>A (p.Pro159=) rs201205150 0.00019
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_000246.4(CIITA):c.2178C>T (p.Gly726=) rs150014874 0.00018
NM_000246.4(CIITA):c.567G>A (p.Ala189=) rs143123121 0.00018
NM_000246.4(CIITA):c.629-9C>T rs372749477 0.00017
NM_000246.4(CIITA):c.2408C>T (p.Ala803Val) rs577781366 0.00016
NM_000246.4(CIITA):c.471C>T (p.His157=) rs149990869 0.00016
NM_001025603.2(RFX5):c.116+12T>C rs371561606 0.00016
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001025603.2(RFX5):c.354-17G>A rs369304906 0.00016
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 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_000538.4(RFXAP):c.459G>A (p.Val153=) rs112803942 0.00013
NM_000538.4(RFXAP):c.711G>A (p.Ser237=) rs760354012 0.00013
NM_001025603.2(RFX5):c.116+18C>T rs770400757 0.00013
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000246.4(CIITA):c.3300T>C (p.Pro1100=) rs374199442 0.00012
NM_000246.4(CIITA):c.648G>A (p.Ser216=) rs374843831 0.00012
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.300A>G (p.Glu100=) rs578099843 0.00011
NM_000538.4(RFXAP):c.129A>G (p.Gln43=) rs762143349 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 0.00011
NM_003721.4(RFXANK):c.654C>T (p.Thr218=) rs8862 0.00011
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000246.4(CIITA):c.1572C>T (p.Ser524=) rs745753805 0.00009
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys) rs201754085 0.00009
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_003721.4(RFXANK):c.713-20T>C rs778907929 0.00009
NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) rs199868077 0.00009
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe) rs756970534 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.3015G>A (p.Ser1005=) rs764664500 0.00008
NM_003721.4(RFXANK):c.439-4G>T rs556678969 0.00008
NM_000246.4(CIITA):c.1167A>G (p.Glu389=) rs372456158 0.00007
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.2478A>G (p.Val826=) rs376456953 0.00007
NM_003721.4(RFXANK):c.187+9C>G rs550887272 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 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.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.53-18C>A rs374928136 0.00006
NM_000246.4(CIITA):c.618C>T (p.Asp206=) rs779174078 0.00006
NM_000246.4(CIITA):c.772+5G>T rs376221650 0.00006
NM_000246.4(CIITA):c.87C>A (p.Pro29=) rs375101778 0.00006
NM_000538.4(RFXAP):c.27C>T (p.Gly9=) rs1049663849 0.00006
NM_003721.4(RFXANK):c.337+17_337+18del rs771868032 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_003721.4(RFXANK):c.396C>T (p.Ser132=) rs751013566 0.00006
NM_003721.4(RFXANK):c.417C>T (p.Thr139=) rs755182393 0.00006
NM_003721.4(RFXANK):c.708G>T (p.Arg236=) rs781614267 0.00006
NM_000246.4(CIITA):c.1929C>A (p.Gly643=) rs558025679 0.00005
NM_000246.4(CIITA):c.2523G>T (p.Thr841=) rs780897648 0.00005
NM_000246.4(CIITA):c.3150-5G>A rs770158073 0.00005
NM_000246.4(CIITA):c.436+8A>T rs776402851 0.00005
NM_000538.4(RFXAP):c.297G>C (p.Pro99=) rs183370317 0.00005
NM_001025603.2(RFX5):c.473+14G>C rs750170207 0.00005
NM_001025603.2(RFX5):c.473+20T>C rs752921480 0.00005
NM_001025603.2(RFX5):c.678C>T (p.Val226=) rs559709373 0.00005
NM_003721.4(RFXANK):c.363C>T (p.Asp121=) rs139803434 0.00005
NM_000246.4(CIITA):c.1033C>T (p.Leu345=) rs756276934 0.00004
NM_000246.4(CIITA):c.1488C>T (p.Leu496=) rs757810929 0.00004
NM_000246.4(CIITA):c.1560G>A (p.Ala520=) rs781538086 0.00004
NM_000246.4(CIITA):c.1695G>A (p.Glu565=) rs766945455 0.00004
NM_000246.4(CIITA):c.1716G>A (p.Glu572=) rs767640224 0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000246.4(CIITA):c.1890C>T (p.Asp630=) rs371967455 0.00004
NM_000246.4(CIITA):c.200-15G>A rs764180607 0.00004
NM_000246.4(CIITA):c.2154G>A (p.Gly718=) rs201455192 0.00004
NM_000246.4(CIITA):c.2208C>T (p.Tyr736=) rs773230132 0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) rs368233530 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000246.4(CIITA):c.3150-17G>A rs762641876 0.00004
NM_000246.4(CIITA):c.3153G>A (p.Leu1051=) rs143507445 0.00004
NM_000246.4(CIITA):c.3156C>T (p.Tyr1052=) rs199994537 0.00004
NM_000246.4(CIITA):c.657C>T (p.Cys219=) rs775983190 0.00004
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1455G>A (p.Lys485=) rs543484330 0.00004
NM_001025603.2(RFX5):c.1809C>A (p.Ser603=) rs749723355 0.00004
NM_001025603.2(RFX5):c.387A>G (p.Pro129=) rs200465567 0.00004
NM_003721.4(RFXANK):c.272-4C>G rs771378351 0.00004
NM_003721.4(RFXANK):c.39C>A (p.Thr13=) rs763281760 0.00004
NM_003721.4(RFXANK):c.565-6C>T rs566002293 0.00004
NM_003721.4(RFXANK):c.639C>T (p.Gly213=) rs745918077 0.00004
NM_000246.4(CIITA):c.1437G>A (p.Ala479=) rs779022639 0.00003
NM_000246.4(CIITA):c.1734G>T (p.Val578=) rs922586393 0.00003
NM_000246.4(CIITA):c.2370G>A (p.Ala790=) rs374314327 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.2496C>T (p.Arg832=) rs1317563422 0.00003
NM_000246.4(CIITA):c.2637C>G (p.Leu879=) rs764244931 0.00003
NM_000246.4(CIITA):c.297G>C (p.Ala99=) rs757438997 0.00003
NM_000246.4(CIITA):c.3149+12C>A rs747004288 0.00003
NM_000246.4(CIITA):c.3312G>A (p.Thr1104=) rs201958927 0.00003
NM_000246.4(CIITA):c.3313C>T (p.Leu1105=) rs763039487 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.591C>T (p.Ser197=) rs768524733 0.00003
NM_000246.4(CIITA):c.772+9G>A rs750572482 0.00003
NM_000246.4(CIITA):c.938-4C>T rs534252989 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_001025603.2(RFX5):c.279T>C (p.Tyr93=) rs1041864880 0.00003
NM_001025603.2(RFX5):c.758-20C>T rs1036063384 0.00003
NM_001025603.2(RFX5):c.758-9C>T rs758626785 0.00003
NM_003721.4(RFXANK):c.188-17T>C rs773482897 0.00003
NM_003721.4(RFXANK):c.188-19C>T rs200486698 0.00003
NM_003721.4(RFXANK):c.258G>C (p.Pro86=) rs747424282 0.00003
NM_003721.4(RFXANK):c.444C>T (p.Ala148=) rs772802002 0.00003
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604 0.00003
NM_003721.4(RFXANK):c.690C>T (p.Ala230=) rs751945050 0.00003
NM_003721.4(RFXANK):c.741C>G (p.Leu247=) rs768433483 0.00003
NM_000246.4(CIITA):c.1007-9C>A rs779968345 0.00002
NM_000246.4(CIITA):c.1314T>C (p.Ala438=) rs749994940 0.00002
NM_000246.4(CIITA):c.1344C>A (p.Val448=) rs372566990 0.00002
NM_000246.4(CIITA):c.1503C>T (p.Phe501=) rs768999342 0.00002
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) rs1427227633 0.00002
NM_000246.4(CIITA):c.1551G>A (p.Pro517=) rs370785250 0.00002
NM_000246.4(CIITA):c.165C>T (p.Asp55=) rs776624117 0.00002
NM_000246.4(CIITA):c.2238C>T (p.Pro746=) rs1248810990 0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) rs749019138 0.00002
NM_000246.4(CIITA):c.2628C>T (p.Leu876=) rs567999254 0.00002
NM_000246.4(CIITA):c.2657+7T>C rs1336173909 0.00002
NM_000246.4(CIITA):c.2751C>T (p.Ile917=) rs771046803 0.00002
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_000246.4(CIITA):c.2997C>T (p.Ile999=) rs199829790 0.00002
NM_000246.4(CIITA):c.3062+16C>G rs770824543 0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) rs772387879 0.00002
NM_000246.4(CIITA):c.3318-4G>T rs772254170 0.00002
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_000246.4(CIITA):c.3327G>A (p.Thr1109=) rs776446459 0.00002
NM_000246.4(CIITA):c.351C>T (p.Asp117=) rs535802743 0.00002
NM_000246.4(CIITA):c.510T>C (p.Ser170=) rs748253943 0.00002
NM_000246.4(CIITA):c.615C>T (p.Thr205=) rs749376450 0.00002
NM_000246.4(CIITA):c.780G>A (p.Val260=) rs1272731646 0.00002
NM_000246.4(CIITA):c.870C>T (p.Phe290=) rs546955314 0.00002
NM_000246.4(CIITA):c.963C>T (p.Cys321=) rs781290238 0.00002
NM_000538.4(RFXAP):c.108G>C (p.Ser36=) rs1383786589 0.00002
NM_000538.4(RFXAP):c.699A>G (p.Gln233=) rs202180471 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.261G>A (p.Glu87=) rs370136250 0.00002
NM_001025603.2(RFX5):c.474-12A>G rs374766761 0.00002
NM_001025603.2(RFX5):c.603G>A (p.Val201=) rs776987628 0.00002
NM_001025603.2(RFX5):c.693A>G (p.Leu231=) rs532786569 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_003721.4(RFXANK):c.162G>A (p.Pro54=) rs774635371 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.291C>T (p.Leu97=) rs533275724 0.00002
NM_003721.4(RFXANK):c.439-7C>T rs768383806 0.00002
NM_000246.4(CIITA):c.1006+11C>T rs538473746 0.00001
NM_000246.4(CIITA):c.1006+9T>C rs764688829 0.00001
NM_000246.4(CIITA):c.1011G>A (p.Pro337=) rs548126822 0.00001
NM_000246.4(CIITA):c.1059C>T (p.Pro353=) rs769294144 0.00001
NM_000246.4(CIITA):c.1065C>G (p.Gly355=) rs1346017378 0.00001
NM_000246.4(CIITA):c.1119C>T (p.Ser373=) rs754000556 0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) rs748867171 0.00001
NM_000246.4(CIITA):c.1155G>A (p.Pro385=) rs930885758 0.00001
NM_000246.4(CIITA):c.1200G>T (p.Val400=) rs1229168889 0.00001
NM_000246.4(CIITA):c.1201C>T (p.Leu401=) rs2039182328 0.00001
NM_000246.4(CIITA):c.1227G>A (p.Arg409=) rs1182379244 0.00001
NM_000246.4(CIITA):c.1245G>A (p.Val415=) rs2039185777 0.00001
NM_000246.4(CIITA):c.1255C>T (p.Leu419=) rs773334233 0.00001
NM_000246.4(CIITA):c.1284T>C (p.Tyr428=) rs113334711 0.00001
NM_000246.4(CIITA):c.1329C>G (p.Pro443=) rs2039192663 0.00001
NM_000246.4(CIITA):c.1341T>C (p.Phe447=) rs1383010151 0.00001
NM_000246.4(CIITA):c.1389T>C (p.Tyr463=) rs1306793050 0.00001
NM_000246.4(CIITA):c.1407C>T (p.Leu469=) rs952148877 0.00001
NM_000246.4(CIITA):c.1410C>T (p.Phe470=) rs761639366 0.00001
NM_000246.4(CIITA):c.141C>G (p.Leu47=) rs770687816 0.00001
NM_000246.4(CIITA):c.1422A>G (p.Pro474=) rs751115130 0.00001
NM_000246.4(CIITA):c.1440C>G (p.Ala480=) rs1422211170 0.00001
NM_000246.4(CIITA):c.1467G>A (p.Lys489=) rs773289924 0.00001
NM_000246.4(CIITA):c.1492C>T (p.Leu498=) rs745967096 0.00001
NM_000246.4(CIITA):c.1497C>T (p.Asp499=) rs772143212 0.00001
NM_000246.4(CIITA):c.1557G>C (p.Pro519=) rs924677218 0.00001
NM_000246.4(CIITA):c.1563G>A (p.Glu521=) rs749129218 0.00001
NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser) rs200881105 0.00001
NM_000246.4(CIITA):c.1581G>A (p.Gly527=) rs1328265096 0.00001
NM_000246.4(CIITA):c.1582C>T (p.Leu528=) rs1231431038 0.00001
NM_000246.4(CIITA):c.1590C>T (p.Ala530=) rs765568149 0.00001
NM_000246.4(CIITA):c.1593C>A (p.Gly531=) rs758998471 0.00001
NM_000246.4(CIITA):c.1623C>T (p.Cys541=) rs1196361559 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.1722C>G (p.Ala574=) rs756418386 0.00001
NM_000246.4(CIITA):c.1752C>T (p.Ser584=) rs1422641245 0.00001
NM_000246.4(CIITA):c.1842C>T (p.Cys614=) rs201489439 0.00001
NM_000246.4(CIITA):c.1920C>T (p.Leu640=) rs1429664949 0.00001
NM_000246.4(CIITA):c.1965G>A (p.Gly655=) rs199548540 0.00001
NM_000246.4(CIITA):c.200-5C>T rs1392125499 0.00001
NM_000246.4(CIITA):c.200-8C>T rs1196619920 0.00001
NM_000246.4(CIITA):c.200-9T>C rs778238111 0.00001
NM_000246.4(CIITA):c.2067G>A (p.Ala689=) rs1423175671 0.00001
NM_000246.4(CIITA):c.2097G>T (p.Pro699=) rs541276235 0.00001
NM_000246.4(CIITA):c.2103C>T (p.Ala701=) rs564280588 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2149C>T (p.Leu717=) rs147459093 0.00001
NM_000246.4(CIITA):c.2202G>A (p.Pro734=) rs769881633 0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) rs200577013 0.00001
NM_000246.4(CIITA):c.2325G>A (p.Gly775=) rs1165450302 0.00001
NM_000246.4(CIITA):c.2376C>T (p.Tyr792=) rs768273700 0.00001
NM_000246.4(CIITA):c.2388G>A (p.Leu796=) rs1333158733 0.00001
NM_000246.4(CIITA):c.2427G>A (p.Leu809=) rs935688881 0.00001
NM_000246.4(CIITA):c.2436C>T (p.Cys812=) rs771994666 0.00001
NM_000246.4(CIITA):c.2475G>C (p.Val825=) rs763615964 0.00001
NM_000246.4(CIITA):c.2490C>T (p.Pro830=) rs909171126 0.00001
NM_000246.4(CIITA):c.2493C>T (p.Gly831=) rs2039294525 0.00001
NM_000246.4(CIITA):c.2562G>A (p.Ala854=) rs1202117070 0.00001
NM_000246.4(CIITA):c.2634A>C (p.Gly878=) rs1186433133 0.00001
NM_000246.4(CIITA):c.2643T>C (p.Cys881=) rs776775225 0.00001
NM_000246.4(CIITA):c.2649C>T (p.Thr883=) rs969921250 0.00001
NM_000246.4(CIITA):c.2658-8C>T rs1339376443 0.00001
NM_000246.4(CIITA):c.2670C>T (p.Ser890=) rs770036332 0.00001
NM_000246.4(CIITA):c.2683C>T (p.Leu895=) rs776323785 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.276G>A (p.Arg92=) rs149531285 0.00001
NM_000246.4(CIITA):c.2772C>T (p.Ser924=) rs1332434918 0.00001
NM_000246.4(CIITA):c.2778G>A (p.Lys926=) rs2039383383 0.00001
NM_000246.4(CIITA):c.2816+19G>A rs376851862 0.00001
NM_000246.4(CIITA):c.2816+9A>G rs2039386253 0.00001
NM_000246.4(CIITA):c.2820G>A (p.Thr940=) rs531729211 0.00001
NM_000246.4(CIITA):c.2853C>T (p.Leu951=) rs915518910 0.00001
NM_000246.4(CIITA):c.2889-15C>T rs768328144 0.00001
NM_000246.4(CIITA):c.2937C>A (p.Ile979=) rs1402387769 0.00001
NM_000246.4(CIITA):c.295+18C>T rs755366666 0.00001
NM_000246.4(CIITA):c.2956C>T (p.Leu986=) rs754618198 0.00001
NM_000246.4(CIITA):c.2965C>T (p.Leu989=) rs1256846733 0.00001
NM_000246.4(CIITA):c.2970-7C>T rs780711101 0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) rs1286058878 0.00001
NM_000246.4(CIITA):c.3000G>A (p.Gly1000=) rs200212249 0.00001
NM_000246.4(CIITA):c.3033C>G (p.Phe1011Leu) rs576290462 0.00001
NM_000246.4(CIITA):c.3036C>T (p.Pro1012=) rs758805572 0.00001
NM_000246.4(CIITA):c.3063-5C>T rs376311167 0.00001
NM_000246.4(CIITA):c.3072G>A (p.Gln1024=) rs1304476933 0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) rs763766993 0.00001
NM_000246.4(CIITA):c.3099C>T (p.Tyr1033=) rs1397847491 0.00001
NM_000246.4(CIITA):c.30G>A (p.Gly10=) rs911677004 0.00001
NM_000246.4(CIITA):c.3132A>G (p.Ala1044=) rs202095013 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000246.4(CIITA):c.3162C>T (p.Asn1054=) rs753080109 0.00001
NM_000246.4(CIITA):c.3165C>T (p.Cys1055=) rs369632475 0.00001
NM_000246.4(CIITA):c.3174C>T (p.Asp1058=) rs148475711 0.00001
NM_000246.4(CIITA):c.3180A>G (p.Gly1060=) rs748093417 0.00001
NM_000246.4(CIITA):c.3183C>A (p.Ala1061=) rs150928735 0.00001
NM_000246.4(CIITA):c.3204T>C (p.Leu1068=) rs145819653 0.00001
NM_000246.4(CIITA):c.3216G>A (p.Val1072=) rs775913876 0.00001
NM_000246.4(CIITA):c.3219C>T (p.Ser1073=) rs1427439897 0.00001
NM_000246.4(CIITA):c.3233+11G>A rs369389650 0.00001
NM_000246.4(CIITA):c.3233+12A>G rs372963299 0.00001
NM_000246.4(CIITA):c.3233+7G>A rs765558693 0.00001
NM_000246.4(CIITA):c.3234-4C>A rs2040322453 0.00001
NM_000246.4(CIITA):c.3276C>T (p.Leu1092=) rs1010187204 0.00001
NM_000246.4(CIITA):c.3317+11G>T rs759674349 0.00001
NM_000246.4(CIITA):c.3318-20A>C rs1417841601 0.00001
NM_000246.4(CIITA):c.3345T>C (p.Ser1115=) rs369114004 0.00001
NM_000246.4(CIITA):c.3376C>A (p.Arg1126=) rs753124646 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000246.4(CIITA):c.438C>T (p.Pro146=) rs565948365 0.00001
NM_000246.4(CIITA):c.481+7A>G rs780081931 0.00001
NM_000246.4(CIITA):c.52+9G>A rs199476060 0.00001
NM_000246.4(CIITA):c.528G>A (p.Val176=) rs759443965 0.00001
NM_000246.4(CIITA):c.53-5C>A rs1212936952 0.00001
NM_000246.4(CIITA):c.543C>T (p.Thr181=) rs780336036 0.00001
NM_000246.4(CIITA):c.546G>T (p.Leu182=) rs755499980 0.00001
NM_000246.4(CIITA):c.594C>G (p.Gly198=) rs761263869 0.00001
NM_000246.4(CIITA):c.628+10G>T rs761755713 0.00001
NM_000246.4(CIITA):c.681C>A (p.Ile227=) rs750616786 0.00001
NM_000246.4(CIITA):c.738T>A (p.Ala246=) rs771807788 0.00001
NM_000246.4(CIITA):c.744A>T (p.Thr248=) rs565678751 0.00001
NM_000246.4(CIITA):c.807C>T (p.Pro269=) rs137859900 0.00001
NM_000246.4(CIITA):c.825C>T (p.His275=) rs746766830 0.00001
NM_000246.4(CIITA):c.831C>T (p.Leu277=) rs2038947521 0.00001
NM_000246.4(CIITA):c.834A>G (p.Pro278=) rs1304965700 0.00001
NM_000246.4(CIITA):c.855C>T (p.Gly285=) rs1488782817 0.00001
NM_000246.4(CIITA):c.867C>T (p.Pro289=) rs750381795 0.00001
NM_000246.4(CIITA):c.891G>A (p.Leu297=) rs781019022 0.00001
NM_000246.4(CIITA):c.937+13A>G rs368326140 0.00001
NM_000246.4(CIITA):c.938-6C>A rs1474216874 0.00001
NM_000246.4(CIITA):c.951C>T (p.Ser317=) rs780590894 0.00001
NM_000246.4(CIITA):c.954C>A (p.Pro318=) rs898296262 0.00001
NM_000246.4(CIITA):c.972T>A (p.Ala324=) rs771952314 0.00001
NM_000246.4(CIITA):c.987C>T (p.Asn329=) rs142970916 0.00001
NM_000246.4(CIITA):c.996A>G (p.Pro332=) rs1031604789 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.222G>A (p.Leu74=) rs1460528998 0.00001
NM_000538.4(RFXAP):c.333A>G (p.Leu111=) rs1310252099 0.00001
NM_000538.4(RFXAP):c.345G>A (p.Glu115=) rs1303614696 0.00001
NM_000538.4(RFXAP):c.402G>C (p.Gly134=) rs1055112539 0.00001
NM_000538.4(RFXAP):c.54G>T (p.Val18=) rs770791539 0.00001
NM_000538.4(RFXAP):c.672T>C (p.Pro224=) rs866409620 0.00001
NM_000538.4(RFXAP):c.708+13T>C rs1159381746 0.00001
NM_000538.4(RFXAP):c.738A>G (p.Gln246=) rs557694029 0.00001
NM_001025603.2(RFX5):c.1056C>T (p.Ala352=) rs780507159 0.00001
NM_001025603.2(RFX5):c.1092A>G (p.Thr364=) rs753408194 0.00001
NM_001025603.2(RFX5):c.123C>T (p.Ala41=) rs759231161 0.00001
NM_001025603.2(RFX5):c.1545A>G (p.Ala515=) rs368646297 0.00001
NM_001025603.2(RFX5):c.1638C>T (p.Pro546=) rs145909673 0.00001
NM_001025603.2(RFX5):c.165A>G (p.Lys55=) rs761707138 0.00001
NM_001025603.2(RFX5):c.353+12G>A rs758784766 0.00001
NM_001025603.2(RFX5):c.757+12C>T rs1432405815 0.00001
NM_001025603.2(RFX5):c.765C>T (p.Asp255=) rs774595444 0.00001
NM_003721.4(RFXANK):c.132C>T (p.Pro44=) rs745351660 0.00001
NM_003721.4(RFXANK):c.272-17C>T rs778375881 0.00001
NM_003721.4(RFXANK):c.393C>T (p.Ala131=) rs768102688 0.00001
NM_003721.4(RFXANK):c.438+8C>G rs768313740 0.00001
NM_003721.4(RFXANK):c.564+19C>T rs777559481 0.00001
NM_003721.4(RFXANK):c.567T>C (p.Asn189=) rs758267512 0.00001
NM_003721.4(RFXANK):c.591T>C (p.Ala197=) rs755666778 0.00001
NM_003721.4(RFXANK):c.615C>T (p.Cys205=) rs1390107544 0.00001
NM_003721.4(RFXANK):c.631+13C>T rs886501679 0.00001
NM_003721.4(RFXANK):c.678G>A (p.Pro226=) rs1407074151 0.00001
NM_003721.4(RFXANK):c.713-6T>C rs757150693 0.00001
NM_003721.4(RFXANK):c.713-8C>G rs752799290 0.00001
NM_000246.4(CIITA):c.1006+10G>A rs2039027980
NM_000246.4(CIITA):c.1006+11C>G
NM_000246.4(CIITA):c.1006+19C>T
NM_000246.4(CIITA):c.1006+8A>G
NM_000246.4(CIITA):c.1006+9T>G
NM_000246.4(CIITA):c.1007-10G>C rs1009895562
NM_000246.4(CIITA):c.1007-10G>T
NM_000246.4(CIITA):c.1007-13C>G
NM_000246.4(CIITA):c.1007-17G>A
NM_000246.4(CIITA):c.1007-18C>T
NM_000246.4(CIITA):c.1007-9C>G
NM_000246.4(CIITA):c.1026C>T (p.Tyr342=) rs1209081776
NM_000246.4(CIITA):c.1029C>G (p.Arg343=) rs759796074
NM_000246.4(CIITA):c.102C>T (p.Tyr34=) rs766092016
NM_000246.4(CIITA):c.1032A>C (p.Ser344=) rs753214558
NM_000246.4(CIITA):c.1032A>T (p.Ser344=) rs753214558
NM_000246.4(CIITA):c.1044G>A (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1044G>C (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1053C>A (p.Ala351=)
NM_000246.4(CIITA):c.1056G>A (p.Glu352=) rs2144694185
NM_000246.4(CIITA):c.105G>A (p.Leu35=)
NM_000246.4(CIITA):c.1062A>G (p.Ala354=) rs1255440466
NM_000246.4(CIITA):c.1065C>T (p.Gly355=)
NM_000246.4(CIITA):c.1071T>C (p.Asp357=) rs759977402
NM_000246.4(CIITA):c.1080A>G (p.Leu360=)
NM_000246.4(CIITA):c.1083G>A (p.Val361=) rs2144695629
NM_000246.4(CIITA):c.1089G>A (p.Val363=)
NM_000246.4(CIITA):c.108G>A (p.Glu36=)
NM_000246.4(CIITA):c.1101G>A (p.Gln367=) rs2144696164
NM_000246.4(CIITA):c.1104C>T (p.Ala368=)
NM_000246.4(CIITA):c.1110G>A (p.Leu370=)
NM_000246.4(CIITA):c.1113G>A (p.Glu371=)
NM_000246.4(CIITA):c.1128G>A (p.Lys376=) rs1368004608
NM_000246.4(CIITA):c.1140G>C (p.Arg380=) rs2144697627
NM_000246.4(CIITA):c.1152C>G (p.Thr384=)
NM_000246.4(CIITA):c.1152C>T (p.Thr384=)
NM_000246.4(CIITA):c.1158C>T (p.Asp386=)
NM_000246.4(CIITA):c.1168C>A (p.Arg390=) rs182369772
NM_000246.4(CIITA):c.1173G>A (p.Gln391=) rs2144699023
NM_000246.4(CIITA):c.1176G>A (p.Leu392=) rs761978819
NM_000246.4(CIITA):c.1182A>G (p.Gln394=) rs750658139
NM_000246.4(CIITA):c.1188C>A (p.Gly396=) rs763224509
NM_000246.4(CIITA):c.1188C>T (p.Gly396=)
NM_000246.4(CIITA):c.1194T>G (p.Ala398=) rs1596549669
NM_000246.4(CIITA):c.1203G>A (p.Leu401=) rs1288759288
NM_000246.4(CIITA):c.1204T>C (p.Leu402=) rs2039182647
NM_000246.4(CIITA):c.1206G>A (p.Leu402=) rs2144700024
NM_000246.4(CIITA):c.120C>T (p.Ser40=) rs2144279813
NM_000246.4(CIITA):c.1222C>A (p.Arg408=) rs145508828
NM_000246.4(CIITA):c.1224G>A (p.Arg408=) rs2144700614
NM_000246.4(CIITA):c.1225C>A (p.Arg409=) rs137895901
NM_000246.4(CIITA):c.1230G>C (p.Pro410=)
NM_000246.4(CIITA):c.1236G>A (p.Glu412=) rs2039185021
NM_000246.4(CIITA):c.1251T>C (p.Ala417=)
NM_000246.4(CIITA):c.1257G>C (p.Leu419=) rs762995873
NM_000246.4(CIITA):c.1263A>G (p.Lys421=)
NM_000246.4(CIITA):c.126T>C (p.Ala42=) rs943644152
NM_000246.4(CIITA):c.1272G>A (p.Gln424=)
NM_000246.4(CIITA):c.1275C>A (p.Gly425=) rs1263554056
NM_000246.4(CIITA):c.1281C>T (p.Ser427=) rs2039187782
NM_000246.4(CIITA):c.1293G>A (p.Gly431=)
NM_000246.4(CIITA):c.1293G>C (p.Gly431=) rs1322292483
NM_000246.4(CIITA):c.1299G>A (p.Val433=)
NM_000246.4(CIITA):c.1299G>C (p.Val433=)
NM_000246.4(CIITA):c.129C>T (p.Asp43=)
NM_000246.4(CIITA):c.12G>C (p.Leu4=)
NM_000246.4(CIITA):c.1303C>A (p.Arg435=)
NM_000246.4(CIITA):c.1305G>A (p.Arg435=)
NM_000246.4(CIITA):c.1308C>T (p.Ala436=)
NM_000246.4(CIITA):c.1320C>G (p.Gly440=) rs2144703498
NM_000246.4(CIITA):c.1320C>T (p.Gly440=) rs2144703498
NM_000246.4(CIITA):c.1323G>C (p.Arg441=)
NM_000246.4(CIITA):c.1329C>A (p.Pro443=) rs2039192663
NM_000246.4(CIITA):c.1329C>T (p.Pro443=)
NM_000246.4(CIITA):c.1332G>A (p.Gln444=) rs1596550338
NM_000246.4(CIITA):c.1353C>G (p.Val451=)
NM_000246.4(CIITA):c.1353C>T (p.Val451=) rs773675585
NM_000246.4(CIITA):c.1356C>A (p.Pro452=)
NM_000246.4(CIITA):c.135G>A (p.Leu45=)
NM_000246.4(CIITA):c.1383T>C (p.Asp461=) rs1359597737
NM_000246.4(CIITA):c.1386C>T (p.Ala462=)
NM_000246.4(CIITA):c.1395G>A (p.Leu465=)
NM_000246.4(CIITA):c.1395G>C (p.Leu465=)
NM_000246.4(CIITA):c.1413C>T (p.Ser471=) rs1218343579
NM_000246.4(CIITA):c.1416G>T (p.Leu472=) rs757999354
NM_000246.4(CIITA):c.1431C>G (p.Leu477=) rs756459269
NM_000246.4(CIITA):c.1431C>T (p.Leu477=)
NM_000246.4(CIITA):c.1437G>C (p.Ala479=) rs779022639
NM_000246.4(CIITA):c.144C>T (p.Tyr48=)
NM_000246.4(CIITA):c.1461C>T (p.Ile487=)
NM_000246.4(CIITA):c.1476C>T (p.Asp492=) rs763054530
NM_000246.4(CIITA):c.1479C>T (p.Arg493=)
NM_000246.4(CIITA):c.1483C>T (p.Leu495=) rs2144709560
NM_000246.4(CIITA):c.1494A>G (p.Leu498=) rs2144710162
NM_000246.4(CIITA):c.1510C>T (p.Leu504=)
NM_000246.4(CIITA):c.1518G>C (p.Ala506=)
NM_000246.4(CIITA):c.1524T>C (p.Asp508=) rs2039212606
NM_000246.4(CIITA):c.1536C>T (p.His512=) rs2144711700
NM_000246.4(CIITA):c.1539C>T (p.Ser513=)
NM_000246.4(CIITA):c.153T>C (p.Tyr51=)
NM_000246.4(CIITA):c.1542G>C (p.Thr514=) rs2228239
NM_000246.4(CIITA):c.1548A>G (p.Gly516=)
NM_000246.4(CIITA):c.1554A>C (p.Ala518=)
NM_000246.4(CIITA):c.1557G>A (p.Pro519=) rs924677218
NM_000246.4(CIITA):c.1557G>T (p.Pro519=) rs924677218
NM_000246.4(CIITA):c.1572C>G (p.Ser524=) rs745753805
NM_000246.4(CIITA):c.1575C>G (p.Leu525=) rs1401987806
NM_000246.4(CIITA):c.1578G>A (p.Arg526=)
NM_000246.4(CIITA):c.1578G>C (p.Arg526=)
NM_000246.4(CIITA):c.1581G>T (p.Gly527=)
NM_000246.4(CIITA):c.1584G>T (p.Leu528=) rs2144713841
NM_000246.4(CIITA):c.1587G>A (p.Leu529=)
NM_000246.4(CIITA):c.1587G>T (p.Leu529=) rs2144713976
NM_000246.4(CIITA):c.1590C>G (p.Ala530=)
NM_000246.4(CIITA):c.1593C>G (p.Gly531=)
NM_000246.4(CIITA):c.1608G>A (p.Lys536=)
NM_000246.4(CIITA):c.1609C>T (p.Leu537=)
NM_000246.4(CIITA):c.1611G>A (p.Leu537=)
NM_000246.4(CIITA):c.1614C>G (p.Leu538=)
NM_000246.4(CIITA):c.1615C>A (p.Arg539=) rs751733167
NM_000246.4(CIITA):c.1617A>T (p.Arg539=)
NM_000246.4(CIITA):c.1620T>C (p.Gly540=) rs547699469
NM_000246.4(CIITA):c.1629C>T (p.Leu543=) rs2039222906
NM_000246.4(CIITA):c.1632C>T (p.Leu544=)
NM_000246.4(CIITA):c.1642C>A (p.Arg548=)
NM_000246.4(CIITA):c.1650G>A (p.Arg550=)
NM_000246.4(CIITA):c.1650G>C (p.Arg550=) rs1596552207
NM_000246.4(CIITA):c.1656C>T (p.Arg552=)
NM_000246.4(CIITA):c.1659G>T (p.Leu553=)
NM_000246.4(CIITA):c.1668C>T (p.Ser556=)
NM_000246.4(CIITA):c.1674C>T (p.Ser558=)
NM_000246.4(CIITA):c.1677G>A (p.Lys559=) rs2144717032
NM_000246.4(CIITA):c.1680C>A (p.Ala560=) rs374666560
NM_000246.4(CIITA):c.1680C>T (p.Ala560=) rs374666560
NM_000246.4(CIITA):c.1686C>A (p.Ala562=)
NM_000246.4(CIITA):c.1689A>G (p.Leu563=)
NM_000246.4(CIITA):c.1689A>T (p.Leu563=)
NM_000246.4(CIITA):c.1698G>A (p.Leu566=) rs2144717803
NM_000246.4(CIITA):c.1698G>C (p.Leu566=)
NM_000246.4(CIITA):c.1698G>T (p.Leu566=)
NM_000246.4(CIITA):c.1701C>T (p.Ser567=) rs1456805791
NM_000246.4(CIITA):c.1707C>T (p.Phe569=)
NM_000246.4(CIITA):c.171T>C (p.Ala57=)
NM_000246.4(CIITA):c.1746T>C (p.Phe582=) rs769523379
NM_000246.4(CIITA):c.1758G>A (p.Gly586=) rs1596552734
NM_000246.4(CIITA):c.1773A>G (p.Gln591=) rs1185808942
NM_000246.4(CIITA):c.1776C>T (p.Asp592=)
NM_000246.4(CIITA):c.1788G>A (p.Thr596=) rs775006458
NM_000246.4(CIITA):c.1788G>T (p.Thr596=)
NM_000246.4(CIITA):c.1791C>T (p.Leu597=) rs201657235
NM_000246.4(CIITA):c.1801C>A (p.Arg601=)
NM_000246.4(CIITA):c.1803G>C (p.Arg601=) rs758215284
NM_000246.4(CIITA):c.1806A>G (p.Pro602=)
NM_000246.4(CIITA):c.1812T>A (p.Leu604=)
NM_000246.4(CIITA):c.1812T>C (p.Leu604=)
NM_000246.4(CIITA):c.1815C>G (p.Leu605=)
NM_000246.4(CIITA):c.1827C>T (p.His609=)
NM_000246.4(CIITA):c.1848A>G (p.Ala616=)
NM_000246.4(CIITA):c.1854C>T (p.Cys618=)
NM_000246.4(CIITA):c.1857G>A (p.Gln619=) rs2144722976
NM_000246.4(CIITA):c.1866G>A (p.Glu622=) rs2144723269
NM_000246.4(CIITA):c.1870C>T (p.Leu624=) rs770704637
NM_000246.4(CIITA):c.1878G>A (p.Glu626=) rs1310021692
NM_000246.4(CIITA):c.1897C>T (p.Leu633=) rs764011690
NM_000246.4(CIITA):c.1899G>A (p.Leu633=)
NM_000246.4(CIITA):c.1902C>T (p.Pro634=)
NM_000246.4(CIITA):c.1908G>T (p.Thr636=)
NM_000246.4(CIITA):c.1911C>G (p.Leu637=)
NM_000246.4(CIITA):c.1911C>T (p.Leu637=) rs2144724660
NM_000246.4(CIITA):c.1914G>A (p.Thr638=)
NM_000246.4(CIITA):c.1914G>C (p.Thr638=) rs765419901
NM_000246.4(CIITA):c.1917A>G (p.Gly639=) rs2144724909
NM_000246.4(CIITA):c.192C>T (p.Leu64=)
NM_000246.4(CIITA):c.1930C>T (p.Leu644=) rs2144725433
NM_000246.4(CIITA):c.1932G>A (p.Leu644=)
NM_000246.4(CIITA):c.1932G>C (p.Leu644=)
NM_000246.4(CIITA):c.1933C>T (p.Leu645=)
NM_000246.4(CIITA):c.1941T>C (p.Arg647=) rs1284394353
NM_000246.4(CIITA):c.1950C>T (p.Leu650=) rs1317996693
NM_000246.4(CIITA):c.1956C>T (p.Ser652=)
NM_000246.4(CIITA):c.1959C>T (p.Pro653=) rs2144726491
NM_000246.4(CIITA):c.195C>T (p.Tyr65=)
NM_000246.4(CIITA):c.1962C>A (p.Pro654=)
NM_000246.4(CIITA):c.1962C>G (p.Pro654=) rs769190445
NM_000246.4(CIITA):c.1962C>T (p.Pro654=) rs769190445
NM_000246.4(CIITA):c.1968C>A (p.Ala656=) rs1596553722
NM_000246.4(CIITA):c.1968C>T (p.Ala656=)
NM_000246.4(CIITA):c.1969C>T (p.Leu657=) rs1160673027
NM_000246.4(CIITA):c.1974A>C (p.Ala658=)
NM_000246.4(CIITA):c.1983C>T (p.Ala661=) rs2144727515
NM_000246.4(CIITA):c.199+10C>T
NM_000246.4(CIITA):c.199+20G>C
NM_000246.4(CIITA):c.199+20dup
NM_000246.4(CIITA):c.1992C>T (p.Ala664=)
NM_000246.4(CIITA):c.200-20C>G
NM_000246.4(CIITA):c.200-20C>T
NM_000246.4(CIITA):c.200-4C>T rs750105787
NM_000246.4(CIITA):c.200-8C>G
NM_000246.4(CIITA):c.2016A>G (p.Gln672=)
NM_000246.4(CIITA):c.2022C>A (p.Thr674=)
NM_000246.4(CIITA):c.2025A>G (p.Leu675=) rs200253132
NM_000246.4(CIITA):c.2034C>T (p.Asp678=) rs2144729188
NM_000246.4(CIITA):c.2046C>A (p.Ser682=) rs143474425
NM_000246.4(CIITA):c.2046C>T (p.Ser682=) rs143474425
NM_000246.4(CIITA):c.2049A>G (p.Ala683=)
NM_000246.4(CIITA):c.2052C>T (p.Asp684=) rs771174153
NM_000246.4(CIITA):c.2079C>G (p.Gly693=)
NM_000246.4(CIITA):c.2079C>T (p.Gly693=)
NM_000246.4(CIITA):c.2091C>T (p.His697=) rs1405994980
NM_000246.4(CIITA):c.2094A>G (p.Pro698=) rs2144731670
NM_000246.4(CIITA):c.2097G>A (p.Pro699=) rs541276235
NM_000246.4(CIITA):c.2103C>G (p.Ala701=)
NM_000246.4(CIITA):c.2106A>T (p.Ala702=)
NM_000246.4(CIITA):c.2109G>A (p.Glu703=)
NM_000246.4(CIITA):c.2112C>G (p.Ser704=) rs1463138775
NM_000246.4(CIITA):c.2112C>T (p.Ser704=) rs1463138775
NM_000246.4(CIITA):c.2115G>A (p.Glu705=) rs2144732774
NM_000246.4(CIITA):c.2127C>T (p.Pro709=)
NM_000246.4(CIITA):c.2130C>T (p.Ser710=)
NM_000246.4(CIITA):c.2136C>A (p.Leu712=)
NM_000246.4(CIITA):c.213C>T (p.Asp71=)
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.2157C>A (p.Ala719=)
NM_000246.4(CIITA):c.2157C>T (p.Ala719=) rs1264905958
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2187G>A (p.Lys729=) rs752378939
NM_000246.4(CIITA):c.2199C>T (p.Leu733=)
NM_000246.4(CIITA):c.21C>A (p.Arg7=) rs1251135434
NM_000246.4(CIITA):c.21C>G (p.Arg7=)
NM_000246.4(CIITA):c.2214A>G (p.Ala738=)
NM_000246.4(CIITA):c.2215T>C (p.Leu739=)
NM_000246.4(CIITA):c.2220C>G (p.Thr740=)
NM_000246.4(CIITA):c.2223A>G (p.Pro741=) rs2144735532
NM_000246.4(CIITA):c.2229G>A (p.Lys743=)
NM_000246.4(CIITA):c.2247C>T (p.Asn749=) rs2039274273
NM_000246.4(CIITA):c.2253G>A (p.Leu751=)
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) rs754313400
NM_000246.4(CIITA):c.2265A>G (p.Pro755=) rs2144736489
NM_000246.4(CIITA):c.2271T>C (p.Phe757=)
NM_000246.4(CIITA):c.2274G>A (p.Leu758=)
NM_000246.4(CIITA):c.2280G>C (p.Gly760=) rs534878029
NM_000246.4(CIITA):c.2283G>A (p.Leu761=)
NM_000246.4(CIITA):c.2283G>T (p.Leu761=)
NM_000246.4(CIITA):c.2292G>A (p.Gln764=)
NM_000246.4(CIITA):c.2295T>A (p.Pro765=)
NM_000246.4(CIITA):c.2298C>A (p.Pro766=) rs749317381
NM_000246.4(CIITA):c.2298C>T (p.Pro766=) rs749317381
NM_000246.4(CIITA):c.2304C>A (p.Arg768=)
NM_000246.4(CIITA):c.2308C>T (p.Leu770=) rs2144737859
NM_000246.4(CIITA):c.2316C>G (p.Ala772=)
NM_000246.4(CIITA):c.2317C>T (p.Leu773=) rs767189945
NM_000246.4(CIITA):c.2319A>C (p.Leu773=) rs1243177242
NM_000246.4(CIITA):c.2322C>A (p.Leu774=) rs77072504
NM_000246.4(CIITA):c.2322C>G (p.Leu774=) rs77072504
NM_000246.4(CIITA):c.2325G>C (p.Gly775=) rs1165450302
NM_000246.4(CIITA):c.2328A>G (p.Pro776=)
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) rs34685848
NM_000246.4(CIITA):c.2331G>C (p.Ser777=)
NM_000246.4(CIITA):c.2334G>C (p.Ala778=)
NM_000246.4(CIITA):c.2340C>G (p.Ala780=)
NM_000246.4(CIITA):c.2343G>C (p.Ser781=) rs749019138
NM_000246.4(CIITA):c.2346G>A (p.Val782=)
NM_000246.4(CIITA):c.2361G>A (p.Lys787=)
NM_000246.4(CIITA):c.2370G>C (p.Ala790=)
NM_000246.4(CIITA):c.2377C>T (p.Leu793=)
NM_000246.4(CIITA):c.2385G>C (p.Arg795=) rs1203577056
NM_000246.4(CIITA):c.2394G>T (p.Pro798=) rs2229320
NM_000246.4(CIITA):c.2397G>A (p.Gly799=)
NM_000246.4(CIITA):c.2400A>G (p.Thr800=)
NM_000246.4(CIITA):c.2400A>T (p.Thr800=) rs750834114
NM_000246.4(CIITA):c.2404C>A (p.Arg802=) rs1425490482
NM_000246.4(CIITA):c.2406G>A (p.Arg802=) rs948508818
NM_000246.4(CIITA):c.2406G>T (p.Arg802=) rs948508818
NM_000246.4(CIITA):c.2416C>T (p.Leu806=) rs2144741398
NM_000246.4(CIITA):c.2418G>C (p.Leu806=)
NM_000246.4(CIITA):c.2419C>T (p.Leu807=) rs778923525
NM_000246.4(CIITA):c.2421G>A (p.Leu807=) rs34654419
NM_000246.4(CIITA):c.2430G>A (p.Leu810=)
NM_000246.4(CIITA):c.2433C>T (p.His811=) rs2144741990
NM_000246.4(CIITA):c.2439C>G (p.Ala813=)
NM_000246.4(CIITA):c.2448C>G (p.Ala816=) rs112250421
NM_000246.4(CIITA):c.2481G>A (p.Gln827=) rs2144743167
NM_000246.4(CIITA):c.2484G>A (p.Glu828=)
NM_000246.4(CIITA):c.2490C>A (p.Pro830=) rs909171126
NM_000246.4(CIITA):c.2493C>G (p.Gly831=)
NM_000246.4(CIITA):c.2499C>T (p.Leu833=)
NM_000246.4(CIITA):c.2514C>A (p.Thr838=)
NM_000246.4(CIITA):c.2517C>A (p.Arg839=)
NM_000246.4(CIITA):c.2517C>T (p.Arg839=) rs2039296769
NM_000246.4(CIITA):c.2523G>A (p.Thr841=) rs780897648
NM_000246.4(CIITA):c.2526T>A (p.Pro842=) rs889955786
NM_000246.4(CIITA):c.252C>T (p.Asp84=)
NM_000246.4(CIITA):c.2532T>C (p.Asp844=) rs2144745104
NM_000246.4(CIITA):c.2535A>T (p.Ala845=) rs2039298286
NM_000246.4(CIITA):c.2538T>C (p.His846=)
NM_000246.4(CIITA):c.2544G>A (p.Leu848=) rs1567423502
NM_000246.4(CIITA):c.2547C>A (p.Gly849=)
NM_000246.4(CIITA):c.2550G>A (p.Lys850=)
NM_000246.4(CIITA):c.2553C>G (p.Ala851=)
NM_000246.4(CIITA):c.2554T>C (p.Leu852=)
NM_000246.4(CIITA):c.2556G>A (p.Leu852=)
NM_000246.4(CIITA):c.2562G>C (p.Ala854=)
NM_000246.4(CIITA):c.2565G>C (p.Ala855=)
NM_000246.4(CIITA):c.2577C>T (p.Phe859=)
NM_000246.4(CIITA):c.2581C>T (p.Leu861=)
NM_000246.4(CIITA):c.2595C>T (p.Ser865=)
NM_000246.4(CIITA):c.2598T>A (p.Thr866=) rs780621242
NM_000246.4(CIITA):c.2607C>T (p.Cys869=)
NM_000246.4(CIITA):c.2610C>G (p.Pro870=) rs1025580450
NM_000246.4(CIITA):c.2610C>T (p.Pro870=) rs1025580450
NM_000246.4(CIITA):c.261T>G (p.Gly87=) rs1596499803
NM_000246.4(CIITA):c.2646C>T (p.Val882=) rs766224611
NM_000246.4(CIITA):c.2652T>C (p.Arg884=)
NM_000246.4(CIITA):c.2657+10G>C
NM_000246.4(CIITA):c.2657+13G>A
NM_000246.4(CIITA):c.2657+14C>T
NM_000246.4(CIITA):c.2657+17G>C
NM_000246.4(CIITA):c.2657+17G>T
NM_000246.4(CIITA):c.2657+20G>A
NM_000246.4(CIITA):c.2658-10C>T rs1337213724
NM_000246.4(CIITA):c.2658-5C>A
NM_000246.4(CIITA):c.2665T>C (p.Leu889=)
NM_000246.4(CIITA):c.2667G>A (p.Leu889=) rs1567425926
NM_000246.4(CIITA):c.2679G>A (p.Val893=) rs914514578
NM_000246.4(CIITA):c.2682G>T (p.Ala894=)
NM_000246.4(CIITA):c.2691G>A (p.Glu897=) rs764994021
NM_000246.4(CIITA):c.2694C>T (p.Ser898=)
NM_000246.4(CIITA):c.2697G>A (p.Leu899=)
NM_000246.4(CIITA):c.2697G>C (p.Leu899=)
NM_000246.4(CIITA):c.2706T>C (p.His902=) rs2144768649
NM_000246.4(CIITA):c.2709G>C (p.Gly903=) rs755515727
NM_000246.4(CIITA):c.2712G>A (p.Glu904=)
NM_000246.4(CIITA):c.2760C>T (p.Phe920=) rs1039869401
NM_000246.4(CIITA):c.2763A>G (p.Lys921=)
NM_000246.4(CIITA):c.2781T>C (p.Asp927=)
NM_000246.4(CIITA):c.2796A>C (p.Gly932=) rs2144771171
NM_000246.4(CIITA):c.2799G>A (p.Lys933=)
NM_000246.4(CIITA):c.279G>A (p.Glu93=)
NM_000246.4(CIITA):c.2802T>C (p.Leu934=)
NM_000246.4(CIITA):c.2816+10G>A
NM_000246.4(CIITA):c.2816+12G>C
NM_000246.4(CIITA):c.2816+14C>A
NM_000246.4(CIITA):c.2816+17A>G
NM_000246.4(CIITA):c.2816+17A>T
NM_000246.4(CIITA):c.2816+18T>G
NM_000246.4(CIITA):c.2816+19G>T
NM_000246.4(CIITA):c.2817-11G>A
NM_000246.4(CIITA):c.2817-11G>C
NM_000246.4(CIITA):c.2817-12T>C
NM_000246.4(CIITA):c.2817-15G>T
NM_000246.4(CIITA):c.2817-20A>T
NM_000246.4(CIITA):c.2829C>T (p.Ser943=)
NM_000246.4(CIITA):c.282T>C (p.Ala94=)
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.2844T>C (p.Ala948=)
NM_000246.4(CIITA):c.2856T>A (p.Pro952=)
NM_000246.4(CIITA):c.285T>C (p.Tyr95=)
NM_000246.4(CIITA):c.2863C>A (p.Arg955=)
NM_000246.4(CIITA):c.2865G>A (p.Arg955=) rs2144801964
NM_000246.4(CIITA):c.2868C>T (p.Asp956=)
NM_000246.4(CIITA):c.2871A>G (p.Leu957=) rs2144802007
NM_000246.4(CIITA):c.2878C>T (p.Leu960=)
NM_000246.4(CIITA):c.2880G>T (p.Leu960=)
NM_000246.4(CIITA):c.2883G>A (p.Glu961=) rs1210380416
NM_000246.4(CIITA):c.2888+13G>C
NM_000246.4(CIITA):c.2888+13G>T
NM_000246.4(CIITA):c.2888+16G>C
NM_000246.4(CIITA):c.2888+18T>C
NM_000246.4(CIITA):c.2888+20G>A
NM_000246.4(CIITA):c.2888+7A>G
NM_000246.4(CIITA):c.2888+8A>G
NM_000246.4(CIITA):c.2889-13C>T
NM_000246.4(CIITA):c.2889-20C>T
NM_000246.4(CIITA):c.2889-5C>T rs1555507408
NM_000246.4(CIITA):c.2889-8C>T
NM_000246.4(CIITA):c.2889-9G>A rs1021930842
NM_000246.4(CIITA):c.2889-9G>C rs1021930842
NM_000246.4(CIITA):c.2901C>T (p.Val967=)
NM_000246.4(CIITA):c.2904A>G (p.Ser968=) rs373511328
NM_000246.4(CIITA):c.2907C>G (p.Gly969=) rs1477443427
NM_000246.4(CIITA):c.2916T>C (p.Ala972=)
NM_000246.4(CIITA):c.2919C>T (p.Phe973=)
NM_000246.4(CIITA):c.2922C>A (p.Pro974=)
NM_000246.4(CIITA):c.2931G>A (p.Val977=)
NM_000246.4(CIITA):c.2940C>G (p.Leu980=)
NM_000246.4(CIITA):c.2943G>A (p.Thr981=)
NM_000246.4(CIITA):c.295+10C>T
NM_000246.4(CIITA):c.295+12C>A
NM_000246.4(CIITA):c.295+12C>T rs757888829
NM_000246.4(CIITA):c.295+13C>G
NM_000246.4(CIITA):c.295+13C>T
NM_000246.4(CIITA):c.295+14T>A
NM_000246.4(CIITA):c.295+14T>C
NM_000246.4(CIITA):c.295+17G>A
NM_000246.4(CIITA):c.295+17G>T
NM_000246.4(CIITA):c.295+8A>T
NM_000246.4(CIITA):c.2958G>A (p.Leu986=)
NM_000246.4(CIITA):c.296-10G>C rs2144403890
NM_000246.4(CIITA):c.296-16T>G
NM_000246.4(CIITA):c.2961G>A (p.Gln987=)
NM_000246.4(CIITA):c.2969+12C>T
NM_000246.4(CIITA):c.2969+13T>A
NM_000246.4(CIITA):c.2969+14C>T
NM_000246.4(CIITA):c.2969+15_2969+18del
NM_000246.4(CIITA):c.2969+18G>T
NM_000246.4(CIITA):c.2969+20C>G
NM_000246.4(CIITA):c.2969+8T>C
NM_000246.4(CIITA):c.2969+9A>G rs2039901551
NM_000246.4(CIITA):c.2969+9A>T rs2039901551
NM_000246.4(CIITA):c.2970-10C>T rs754452175
NM_000246.4(CIITA):c.2970-14G>A
NM_000246.4(CIITA):c.2970-18A>G
NM_000246.4(CIITA):c.2970-4G>A
NM_000246.4(CIITA):c.2970-6C>A
NM_000246.4(CIITA):c.2970-7C>A
NM_000246.4(CIITA):c.2976T>C (p.Asp992=) rs2144994568
NM_000246.4(CIITA):c.297G>T (p.Ala99=)
NM_000246.4(CIITA):c.2982G>A (p.Leu994=)
NM_000246.4(CIITA):c.2988G>A (p.Glu996=)
NM_000246.4(CIITA):c.3024A>G (p.Ser1008=)
NM_000246.4(CIITA):c.3036C>G (p.Pro1012=) rs758805572
NM_000246.4(CIITA):c.3040C>T (p.Leu1014=)
NM_000246.4(CIITA):c.3042G>A (p.Leu1014=) rs2144997749
NM_000246.4(CIITA):c.3042G>C (p.Leu1014=) rs2144997749
NM_000246.4(CIITA):c.3048C>A (p.Ser1016=)
NM_000246.4(CIITA):c.3057C>T (p.Thr1019=)
NM_000246.4(CIITA):c.3060C>T (p.Leu1020=)
NM_000246.4(CIITA):c.3062+13G>A
NM_000246.4(CIITA):c.3062+16C>T
NM_000246.4(CIITA):c.3062+18G>A
NM_000246.4(CIITA):c.3062+19C>T
NM_000246.4(CIITA):c.3062+20C>T
NM_000246.4(CIITA):c.3063-10G>T
NM_000246.4(CIITA):c.3063-18C>G
NM_000246.4(CIITA):c.3063-18C>T rs765833310
NM_000246.4(CIITA):c.3063-19C>G
NM_000246.4(CIITA):c.3063-4G>A rs772159674
NM_000246.4(CIITA):c.3063-6C>A
NM_000246.4(CIITA):c.3063-7C>T rs2145057194
NM_000246.4(CIITA):c.3066G>A (p.Leu1022=) rs775514166
NM_000246.4(CIITA):c.3066G>T (p.Leu1022=) rs775514166
NM_000246.4(CIITA):c.306C>T (p.Asp102=)
NM_000246.4(CIITA):c.3078C>T (p.Asn1026=)
NM_000246.4(CIITA):c.3084T>C (p.Thr1028=)
NM_000246.4(CIITA):c.3105C>A (p.Leu1035=)
NM_000246.4(CIITA):c.3108C>A (p.Ala1036=)
NM_000246.4(CIITA):c.3111G>A (p.Glu1037=)
NM_000246.4(CIITA):c.3114C>T (p.Ala1038=)
NM_000246.4(CIITA):c.3117G>C (p.Leu1039=)
NM_000246.4(CIITA):c.3120T>C (p.Pro1040=) rs2145058824
NM_000246.4(CIITA):c.3123G>A (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.3123G>T (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.3126C>A (p.Leu1042=)
NM_000246.4(CIITA):c.3126C>G (p.Leu1042=) rs1252086269
NM_000246.4(CIITA):c.3126C>T (p.Leu1042=)
NM_000246.4(CIITA):c.3129T>C (p.Ala1043=)
NM_000246.4(CIITA):c.312T>C (p.Tyr104=) rs2144405099
NM_000246.4(CIITA):c.3132A>C (p.Ala1044=) rs202095013
NM_000246.4(CIITA):c.3135C>A (p.Ser1045=)
NM_000246.4(CIITA):c.3135C>T (p.Ser1045=) rs745690396
NM_000246.4(CIITA):c.3147A>C (p.Leu1049=) rs2040086121
NM_000246.4(CIITA):c.3147A>G (p.Leu1049=) rs2040086121
NM_000246.4(CIITA):c.3149+14C>T rs768680467
NM_000246.4(CIITA):c.3149+15G>A
NM_000246.4(CIITA):c.3149+15G>T
NM_000246.4(CIITA):c.3149+16G>T
NM_000246.4(CIITA):c.3149+16del
NM_000246.4(CIITA):c.3149+20C>G
NM_000246.4(CIITA):c.3149+7G>C
NM_000246.4(CIITA):c.3149+8G>A rs1157775222
NM_000246.4(CIITA):c.3149+8G>C
NM_000246.4(CIITA):c.3150-14T>C
NM_000246.4(CIITA):c.3150-16C>A
NM_000246.4(CIITA):c.3150-19T>C rs1037567545
NM_000246.4(CIITA):c.3150-19del
NM_000246.4(CIITA):c.3159T>C (p.Asn1053=)
NM_000246.4(CIITA):c.3177G>T (p.Val1059=)
NM_000246.4(CIITA):c.3183C>T (p.Ala1061=) rs150928735
NM_000246.4(CIITA):c.3198T>G (p.Arg1066=) rs2145147118
NM_000246.4(CIITA):c.3219C>A (p.Ser1073=) rs1427439897
NM_000246.4(CIITA):c.321G>A (p.Gln107=)
NM_000246.4(CIITA):c.3225G>A (p.Arg1075=) rs2040312116
NM_000246.4(CIITA):c.3228G>A (p.Val1076=) rs764634952
NM_000246.4(CIITA):c.3233+11dup rs2145148253
NM_000246.4(CIITA):c.3233+13G>C rs1596615779
NM_000246.4(CIITA):c.3233+20C>G
NM_000246.4(CIITA):c.3233+20C>T
NM_000246.4(CIITA):c.3233+9G>A
NM_000246.4(CIITA):c.3234-13T>C
NM_000246.4(CIITA):c.3234-14G>A
NM_000246.4(CIITA):c.3234-15A>C
NM_000246.4(CIITA):c.3234-16G>A
NM_000246.4(CIITA):c.3234-7T>C rs2145151617
NM_000246.4(CIITA):c.3252C>T (p.Phe1084=)
NM_000246.4(CIITA):c.3258T>G (p.Ala1086=) rs2145152246
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.3261C>T (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.3264G>A (p.Gly1088=)
NM_000246.4(CIITA):c.3279T>C (p.Ala1093=)
NM_000246.4(CIITA):c.327C>T (p.Ser109=) rs2144405485
NM_000246.4(CIITA):c.3288T>G (p.Leu1096=)
NM_000246.4(CIITA):c.3294G>A (p.Arg1098=) rs1397013056
NM_000246.4(CIITA):c.3297T>C (p.Cys1099=)
NM_000246.4(CIITA):c.3309G>A (p.Glu1103=) rs1319803512
NM_000246.4(CIITA):c.3317+10G>A rs774566190
NM_000246.4(CIITA):c.3317+10G>C rs774566190
NM_000246.4(CIITA):c.3317+16C>G
NM_000246.4(CIITA):c.3317+16C>T
NM_000246.4(CIITA):c.3317+18T>C
NM_000246.4(CIITA):c.3317+7C>G rs2040328085
NM_000246.4(CIITA):c.3318-10C>G rs2145171758
NM_000246.4(CIITA):c.3318-12C>G rs375205710
NM_000246.4(CIITA):c.3318-14_3318-8dup rs757458555
NM_000246.4(CIITA):c.3318-4G>C
NM_000246.4(CIITA):c.3318-7C>G
NM_000246.4(CIITA):c.3318-7C>T rs375810829
NM_000246.4(CIITA):c.3318-8C>T rs201115726
NM_000246.4(CIITA):c.3318-9C>G rs774283425
NM_000246.4(CIITA):c.3318-9C>T
NM_000246.4(CIITA):c.3327G>C (p.Thr1109=) rs776446459
NM_000246.4(CIITA):c.3327G>T (p.Thr1109=)
NM_000246.4(CIITA):c.3330C>T (p.Pro1110=)
NM_000246.4(CIITA):c.3333C>T (p.Thr1111=)
NM_000246.4(CIITA):c.3342C>T (p.Phe1114=) rs773262829
NM_000246.4(CIITA):c.3348C>G (p.Val1116=)
NM_000246.4(CIITA):c.3354A>G (p.Glu1118=) rs2145172825
NM_000246.4(CIITA):c.3366A>G (p.Gln1122=) rs2145173162
NM_000246.4(CIITA):c.3378G>C (p.Arg1126=) rs2145173347
NM_000246.4(CIITA):c.3387G>C (p.Leu1129=) rs2145173496
NM_000246.4(CIITA):c.3387G>T (p.Leu1129=)
NM_000246.4(CIITA):c.33C>A (p.Ser11=) rs1258720546
NM_000246.4(CIITA):c.342G>A (p.Leu114=) rs2038394922
NM_000246.4(CIITA):c.342G>C (p.Leu114=)
NM_000246.4(CIITA):c.354T>C (p.Ile118=) rs2038396046
NM_000246.4(CIITA):c.358+18G>A
NM_000246.4(CIITA):c.358+19G>A
NM_000246.4(CIITA):c.358+20G>A
NM_000246.4(CIITA):c.358+8T>A rs2144406794
NM_000246.4(CIITA):c.359-7A>G
NM_000246.4(CIITA):c.359-9T>C
NM_000246.4(CIITA):c.360G>A (p.Lys120=) rs2144414379
NM_000246.4(CIITA):c.363C>T (p.His121=) rs775032557
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.372A>G (p.Pro124=)
NM_000246.4(CIITA):c.378A>G (p.Glu126=)
NM_000246.4(CIITA):c.387T>G (p.Gly129=) rs2144415791
NM_000246.4(CIITA):c.393T>C (p.Ser131=)
NM_000246.4(CIITA):c.414T>C (p.Val138=) rs745772598
NM_000246.4(CIITA):c.417G>T (p.Gly139=)
NM_000246.4(CIITA):c.436+10C>T
NM_000246.4(CIITA):c.436+14T>C
NM_000246.4(CIITA):c.436+16C>A
NM_000246.4(CIITA):c.436+17C>T
NM_000246.4(CIITA):c.436+18T>G
NM_000246.4(CIITA):c.436+7G>A rs1596514947
NM_000246.4(CIITA):c.437-15A>G
NM_000246.4(CIITA):c.437-4G>A rs200780683
NM_000246.4(CIITA):c.437-5T>C rs1278823211
NM_000246.4(CIITA):c.447G>A (p.Glu149=) rs910534495
NM_000246.4(CIITA):c.450G>A (p.Glu150=)
NM_000246.4(CIITA):c.456G>C (p.Pro152=)
NM_000246.4(CIITA):c.462C>T (p.Asp154=)
NM_000246.4(CIITA):c.463C>T (p.Leu155=)
NM_000246.4(CIITA):c.481+7A>C
NM_000246.4(CIITA):c.482-12A>G
NM_000246.4(CIITA):c.482-12A>T
NM_000246.4(CIITA):c.482-14C>A
NM_000246.4(CIITA):c.482-14C>T
NM_000246.4(CIITA):c.482-15C>G
NM_000246.4(CIITA):c.482-18_482-17del
NM_000246.4(CIITA):c.482-5C>G
NM_000246.4(CIITA):c.483T>C (p.Ala161=)
NM_000246.4(CIITA):c.489C>A (p.Pro163=) rs2144553617
NM_000246.4(CIITA):c.489C>G (p.Pro163=) rs2144553617
NM_000246.4(CIITA):c.492C>A (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.492C>T (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.513C>G (p.Leu171=)
NM_000246.4(CIITA):c.513C>T (p.Leu171=)
NM_000246.4(CIITA):c.514C>T (p.Leu172=) rs769967354
NM_000246.4(CIITA):c.52+11C>A
NM_000246.4(CIITA):c.52+11C>T
NM_000246.4(CIITA):c.52+12G>A
NM_000246.4(CIITA):c.52+14G>A rs2143434692
NM_000246.4(CIITA):c.52+19C>T
NM_000246.4(CIITA):c.52+8G>T rs2143433710
NM_000246.4(CIITA):c.52+9G>T rs199476060
NM_000246.4(CIITA):c.528G>C (p.Val176=)
NM_000246.4(CIITA):c.53-11T>C
NM_000246.4(CIITA):c.53-15T>C
NM_000246.4(CIITA):c.53-16T>C
NM_000246.4(CIITA):c.53-18C>G
NM_000246.4(CIITA):c.53-9C>G rs2144276274
NM_000246.4(CIITA):c.53-9C>T
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251
NM_000246.4(CIITA):c.537C>T (p.Cys179=) rs1303130418
NM_000246.4(CIITA):c.543C>A (p.Thr181=)
NM_000246.4(CIITA):c.544C>T (p.Leu182=)
NM_000246.4(CIITA):c.555G>A (p.Leu185=)
NM_000246.4(CIITA):c.558A>G (p.Pro186=) rs2144557437
NM_000246.4(CIITA):c.567G>T (p.Ala189=)
NM_000246.4(CIITA):c.570G>A (p.Leu190=) rs1186865566
NM_000246.4(CIITA):c.570G>C (p.Leu190=)
NM_000246.4(CIITA):c.57C>T (p.Ser19=)
NM_000246.4(CIITA):c.597G>A (p.Gln199=) rs764680545
NM_000246.4(CIITA):c.606G>A (p.Leu202=) rs755343798
NM_000246.4(CIITA):c.606G>C (p.Leu202=)
NM_000246.4(CIITA):c.609G>A (p.Glu203=) rs1484428049
NM_000246.4(CIITA):c.628+13G>A
NM_000246.4(CIITA):c.628+14del
NM_000246.4(CIITA):c.628+19A>T
NM_000246.4(CIITA):c.628+7del
NM_000246.4(CIITA):c.629-14T>C
NM_000246.4(CIITA):c.629-19C>T
NM_000246.4(CIITA):c.63G>A (p.Gln21=) rs748905238
NM_000246.4(CIITA):c.645C>G (p.Ser215=)
NM_000246.4(CIITA):c.648G>C (p.Ser216=)
NM_000246.4(CIITA):c.649T>C (p.Leu217=) rs773897183
NM_000246.4(CIITA):c.660G>C (p.Leu220=)
NM_000246.4(CIITA):c.666C>T (p.Leu222=)
NM_000246.4(CIITA):c.678C>T (p.Pro226=) rs2144582658
NM_000246.4(CIITA):c.693C>T (p.Pro231=) rs1233542462
NM_000246.4(CIITA):c.699C>A (p.Ile233=) rs2144583968
NM_000246.4(CIITA):c.69C>T (p.Ala23=)
NM_000246.4(CIITA):c.714T>C (p.His238=) rs2144584596
NM_000246.4(CIITA):c.717G>A (p.Gly239=) rs1596534994
NM_000246.4(CIITA):c.717G>T (p.Gly239=)
NM_000246.4(CIITA):c.720C>A (p.Leu240=)
NM_000246.4(CIITA):c.729C>T (p.Ile243=) rs1596535046
NM_000246.4(CIITA):c.738T>C (p.Ala246=) rs771807788
NM_000246.4(CIITA):c.744A>G (p.Thr248=)
NM_000246.4(CIITA):c.750C>A (p.Val250=)
NM_000246.4(CIITA):c.753C>T (p.Ser251=)
NM_000246.4(CIITA):c.759A>T (p.Ile253=) rs2144586493
NM_000246.4(CIITA):c.772+10G>A
NM_000246.4(CIITA):c.772+12G>T
NM_000246.4(CIITA):c.772+13C>A
NM_000246.4(CIITA):c.772+18C>T
NM_000246.4(CIITA):c.772+7G>A rs2144587533
NM_000246.4(CIITA):c.772+9G>T rs750572482
NM_000246.4(CIITA):c.773-10C>T
NM_000246.4(CIITA):c.773-12C>T
NM_000246.4(CIITA):c.773-14C>T
NM_000246.4(CIITA):c.773-15C>G
NM_000246.4(CIITA):c.773-17C>G
NM_000246.4(CIITA):c.773-17C>T
NM_000246.4(CIITA):c.773-20A>G
NM_000246.4(CIITA):c.773-5T>C rs778941731
NM_000246.4(CIITA):c.773-7A>G rs2144613132
NM_000246.4(CIITA):c.773-9C>T rs756972663
NM_000246.4(CIITA):c.777G>A (p.Glu259=)
NM_000246.4(CIITA):c.789C>T (p.Ala263=)
NM_000246.4(CIITA):c.792C>T (p.Ser264=)
NM_000246.4(CIITA):c.798A>C (p.Val266=) rs1596538389
NM_000246.4(CIITA):c.798A>G (p.Val266=) rs1596538389
NM_000246.4(CIITA):c.79T>C (p.Leu27=) rs760786324
NM_000246.4(CIITA):c.801C>T (p.Pro267=) rs1361514280
NM_000246.4(CIITA):c.813A>C (p.Gly271=) rs2144614631
NM_000246.4(CIITA):c.819T>C (p.Thr273=)
NM_000246.4(CIITA):c.822C>T (p.Val274=) rs2144614750
NM_000246.4(CIITA):c.837A>G (p.Thr279=) rs2038948214
NM_000246.4(CIITA):c.846C>T (p.Asp282=) rs2144615689
NM_000246.4(CIITA):c.847C>A (p.Arg283=) rs556369319
NM_000246.4(CIITA):c.849G>T (p.Arg283=)
NM_000246.4(CIITA):c.84G>A (p.Gly28=)
NM_000246.4(CIITA):c.84G>T (p.Gly28=)
NM_000246.4(CIITA):c.855C>A (p.Gly285=)
NM_000246.4(CIITA):c.888C>T (p.Asp296=) rs754504346
NM_000246.4(CIITA):c.909T>C (p.Pro303=)
NM_000246.4(CIITA):c.912C>G (p.Ala304=)
NM_000246.4(CIITA):c.918C>T (p.Thr306=)
NM_000246.4(CIITA):c.921C>T (p.Ser307=)
NM_000246.4(CIITA):c.924A>G (p.Arg308=) rs1249539070
NM_000246.4(CIITA):c.937+12T>C rs905246966
NM_000246.4(CIITA):c.937+14G>A
NM_000246.4(CIITA):c.937+14G>C
NM_000246.4(CIITA):c.937+17C>T
NM_000246.4(CIITA):c.937+8C>A
NM_000246.4(CIITA):c.937+8C>G rs766456631
NM_000246.4(CIITA):c.937+8C>T rs766456631
NM_000246.4(CIITA):c.937+9C>T
NM_000246.4(CIITA):c.938-15C>T
NM_000246.4(CIITA):c.938-18C>A
NM_000246.4(CIITA):c.938-19C>T
NM_000246.4(CIITA):c.938-6C>T rs1474216874
NM_000246.4(CIITA):c.938-8A>G rs2144645202
NM_000246.4(CIITA):c.938-9C>T
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.954C>G (p.Pro318=) rs898296262
NM_000246.4(CIITA):c.954C>T (p.Pro318=)
NM_000246.4(CIITA):c.957C>T (p.Thr319=) rs2144646130
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000246.4(CIITA):c.966G>A (p.Pro322=)
NM_000246.4(CIITA):c.978G>A (p.Glu326=) rs2144647014
NM_000246.4(CIITA):c.981C>T (p.Val327=)
NM_000246.4(CIITA):c.993T>C (p.Leu331=)
NM_000246.4(CIITA):c.996A>C (p.Pro332=)
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000538.4(RFXAP):c.123C>T (p.Ala41=) rs764409673
NM_000538.4(RFXAP):c.135C>T (p.Thr45=)
NM_000538.4(RFXAP):c.150A>G (p.Gln50=) rs761195790
NM_000538.4(RFXAP):c.180C>T (p.Ala60=)
NM_000538.4(RFXAP):c.276G>T (p.Leu92=) rs1593529954
NM_000538.4(RFXAP):c.297G>A (p.Pro99=)
NM_000538.4(RFXAP):c.303A>G (p.Gly101=)
NM_000538.4(RFXAP):c.306C>A (p.Gly102=) rs772207747
NM_000538.4(RFXAP):c.306C>T (p.Gly102=)
NM_000538.4(RFXAP):c.359G>T (p.Gly120Val) rs199978715
NM_000538.4(RFXAP):c.36G>T (p.Pro12=)
NM_000538.4(RFXAP):c.471C>G (p.Arg157=)
NM_000538.4(RFXAP):c.510C>T (p.Tyr170=)
NM_000538.4(RFXAP):c.522T>C (p.Tyr174=) rs369585303
NM_000538.4(RFXAP):c.600+18G>A
NM_000538.4(RFXAP):c.600+19G>A
NM_000538.4(RFXAP):c.600+19G>C
NM_000538.4(RFXAP):c.606T>C (p.Ser202=)
NM_000538.4(RFXAP):c.708+13_708+16del
NM_000538.4(RFXAP):c.708+7_708+8del rs2138217454
NM_000538.4(RFXAP):c.709-16T>G rs2138218937
NM_000538.4(RFXAP):c.732A>G (p.Val244=)
NM_000538.4(RFXAP):c.765A>G (p.Leu255=)
NM_000538.4(RFXAP):c.84G>A (p.Ala28=)
NM_000538.4(RFXAP):c.9G>C (p.Ala3=)
NM_000538.4(RFXAP):c.9G>T (p.Ala3=) rs771794648
NM_001025603.2(RFX5):c.1026G>A (p.Pro342=)
NM_001025603.2(RFX5):c.1041T>C (p.Ser347=)
NM_001025603.2(RFX5):c.1051C>T (p.Leu351=)
NM_001025603.2(RFX5):c.1104T>C (p.Ser368=)
NM_001025603.2(RFX5):c.1113C>T (p.Ala371=)
NM_001025603.2(RFX5):c.116+16A>G
NM_001025603.2(RFX5):c.1188T>G (p.Pro396=)
NM_001025603.2(RFX5):c.1263T>C (p.Gly421=)
NM_001025603.2(RFX5):c.1266C>T (p.Asp422=)
NM_001025603.2(RFX5):c.1323C>T (p.Ala441=) rs1233467888
NM_001025603.2(RFX5):c.150+12G>A
NM_001025603.2(RFX5):c.150+13G>T
NM_001025603.2(RFX5):c.150+15G>A
NM_001025603.2(RFX5):c.150+7G>A
NM_001025603.2(RFX5):c.1521G>A (p.Gly507=)
NM_001025603.2(RFX5):c.1536T>G (p.Ala512=) rs751751399
NM_001025603.2(RFX5):c.1614T>C (p.Thr538=) rs958989841
NM_001025603.2(RFX5):c.1630A>C (p.Arg544=) rs2102058778
NM_001025603.2(RFX5):c.1783T>C (p.Leu595=)
NM_001025603.2(RFX5):c.233+14T>C
NM_001025603.2(RFX5):c.233+19T>A
NM_001025603.2(RFX5):c.233+7T>C rs1301707603
NM_001025603.2(RFX5):c.234-6C>G
NM_001025603.2(RFX5):c.234-6del rs2102067182
NM_001025603.2(RFX5):c.234-9T>C
NM_001025603.2(RFX5):c.282G>A (p.Arg94=)
NM_001025603.2(RFX5):c.315C>T (p.Asp105=) rs1650854499
NM_001025603.2(RFX5):c.33C>T (p.Pro11=) rs2102071618
NM_001025603.2(RFX5):c.354-13C>T
NM_001025603.2(RFX5):c.473+19G>A rs543941460
NM_001025603.2(RFX5):c.474-10_474-9del
NM_001025603.2(RFX5):c.495G>A (p.Arg165=)
NM_001025603.2(RFX5):c.498G>A (p.Arg166=) rs201026596
NM_001025603.2(RFX5):c.555+19del
NM_001025603.2(RFX5):c.556-17G>A
NM_001025603.2(RFX5):c.612G>C (p.Ala204=)
NM_001025603.2(RFX5):c.687C>T (p.Phe229=) rs201848165
NM_001025603.2(RFX5):c.69G>A (p.Glu23=)
NM_001025603.2(RFX5):c.757+19A>C
NM_001025603.2(RFX5):c.795A>G (p.Lys265=) rs2102062698
NM_001025603.2(RFX5):c.828A>T (p.Gly276=) rs2102062593
NM_001025603.2(RFX5):c.840G>A (p.Lys280=)
NM_001025603.2(RFX5):c.858+19C>T
NM_001025603.2(RFX5):c.858+9G>A
NM_001025603.2(RFX5):c.859-13C>G
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_001025603.2(RFX5):c.859-7T>C rs976314428
NM_001025603.2(RFX5):c.859-8C>A
NM_001025603.2(RFX5):c.859-9_859-5del rs1650654563
NM_001025603.2(RFX5):c.891C>T (p.Ala297=)
NM_001025603.2(RFX5):c.939G>A (p.Ser313=) rs1319132683
NM_001025603.2(RFX5):c.958C>T (p.Leu320=)
NM_001025603.2(RFX5):c.960G>A (p.Leu320=) rs2102061456
NM_001025603.2(RFX5):c.975A>G (p.Leu325=)
NM_001025603.2(RFX5):c.996C>G (p.Leu332=)
NM_003721.4(RFXANK):c.-328G>A rs62135502
NM_003721.4(RFXANK):c.108C>T (p.Asp36=)
NM_003721.4(RFXANK):c.117C>T (p.Val39=)
NM_003721.4(RFXANK):c.183A>G (p.Pro61=)
NM_003721.4(RFXANK):c.188-10T>C
NM_003721.4(RFXANK):c.188-15T>C
NM_003721.4(RFXANK):c.188-19C>G
NM_003721.4(RFXANK):c.188-20G>A
NM_003721.4(RFXANK):c.216T>G (p.Thr72=) rs2146483458
NM_003721.4(RFXANK):c.228G>T (p.Arg76=) rs2146483573
NM_003721.4(RFXANK):c.271+17T>A
NM_003721.4(RFXANK):c.272-16C>T rs201966435
NM_003721.4(RFXANK):c.272-20C>G
NM_003721.4(RFXANK):c.337+16C>T
NM_003721.4(RFXANK):c.337+18T>C
NM_003721.4(RFXANK):c.338-12T>C
NM_003721.4(RFXANK):c.338-13C>A
NM_003721.4(RFXANK):c.338-15G>A rs750773472
NM_003721.4(RFXANK):c.338-15G>C
NM_003721.4(RFXANK):c.338-16C>T
NM_003721.4(RFXANK):c.339T>C (p.Gly113=)
NM_003721.4(RFXANK):c.339T>G (p.Gly113=) rs374843362
NM_003721.4(RFXANK):c.378C>A (p.Thr126=)
NM_003721.4(RFXANK):c.381C>T (p.Pro127=)
NM_003721.4(RFXANK):c.399C>T (p.Ala133=)
NM_003721.4(RFXANK):c.438+13C>A rs761381018
NM_003721.4(RFXANK):c.439-11_439-9del rs529519604
NM_003721.4(RFXANK):c.439-5T>C
NM_003721.4(RFXANK):c.453C>T (p.His151=) rs934876275
NM_003721.4(RFXANK):c.516T>C (p.Ile172=)
NM_003721.4(RFXANK):c.51T>A (p.Pro17=)
NM_003721.4(RFXANK):c.51T>C (p.Pro17=)
NM_003721.4(RFXANK):c.522G>A (p.Gly174=)
NM_003721.4(RFXANK):c.523C>T (p.Leu175=) rs2060635866
NM_003721.4(RFXANK):c.529C>T (p.Leu177=) rs151053440
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) rs115964828
NM_003721.4(RFXANK):c.537T>C (p.Arg179=)
NM_003721.4(RFXANK):c.561T>C (p.Asp187=)
NM_003721.4(RFXANK):c.564+18C>T
NM_003721.4(RFXANK):c.564+9C>T rs1599784412
NM_003721.4(RFXANK):c.565-13C>T rs578037994
NM_003721.4(RFXANK):c.565-16C>T
NM_003721.4(RFXANK):c.565-9C>T rs2146495686
NM_003721.4(RFXANK):c.573G>A (p.Gly191=) rs2146495815
NM_003721.4(RFXANK):c.585G>A (p.Leu195=)
NM_003721.4(RFXANK):c.588C>T (p.Tyr196=)
NM_003721.4(RFXANK):c.597C>T (p.Arg199=)
NM_003721.4(RFXANK):c.600G>T (p.Gly200=)
NM_003721.4(RFXANK):c.606C>T (p.His202=) rs554811149
NM_003721.4(RFXANK):c.628C>T (p.Leu210=)
NM_003721.4(RFXANK):c.631+14G>A
NM_003721.4(RFXANK):c.631+16G>A
NM_003721.4(RFXANK):c.631+16G>T
NM_003721.4(RFXANK):c.631+19T>G
NM_003721.4(RFXANK):c.631+7G>A rs2060644938
NM_003721.4(RFXANK):c.632-15_632-11del rs777515154
NM_003721.4(RFXANK):c.632-18C>T
NM_003721.4(RFXANK):c.632-19C>T
NM_003721.4(RFXANK):c.632-4G>T rs556595003
NM_003721.4(RFXANK):c.642T>C (p.Ala214=)
NM_003721.4(RFXANK):c.648C>T (p.Leu216=)
NM_003721.4(RFXANK):c.654C>A (p.Thr218=)
NM_003721.4(RFXANK):c.669C>A (p.Gly223=)
NM_003721.4(RFXANK):c.675C>A (p.Thr225=)
NM_003721.4(RFXANK):c.702A>T (p.Gly234=)
NM_003721.4(RFXANK):c.712+13C>T
NM_003721.4(RFXANK):c.712+19G>C
NM_003721.4(RFXANK):c.712+20_712+21del rs2146500055
NM_003721.4(RFXANK):c.713-5C>A
NM_003721.4(RFXANK):c.713-7A>G
NM_003721.4(RFXANK):c.759C>T (p.Asn253=)
NM_003721.4(RFXANK):c.762G>T (p.Leu254=)
NM_003721.4(RFXANK):c.81C>T (p.Pro27=)

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