ClinVar Miner

List of variants in gene CIITA studied for MHC class II deficiency

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1547
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.520= (p.Gly174=) rs8046121 0.98494
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.*910T>C rs1139564 0.71323
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NC_000016.10:g.10877045G>A rs3087456 0.52763
NM_000246.4(CIITA):c.2888+34C>T rs4781019 0.49064
NM_000246.4(CIITA):c.482-45G>T rs6498124 0.46458
NM_000246.4(CIITA):c.3318-27G>A rs4781024 0.33728
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2816+57G>A rs7196089 0.27847
NM_000246.4(CIITA):c.629-116C>A rs4781016 0.27687
NM_000246.4(CIITA):c.772+24G>A rs35170497 0.27193
NM_000246.4(CIITA):c.938-119T>C rs4780333 0.21332
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2969+80C>A rs7500869 0.19175
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_000246.4(CIITA):c.*690C>T rs11074940 0.03881
NM_000246.4(CIITA):c.*735G>A rs34538398 0.03616
NM_000246.4(CIITA):c.*911G>A rs45466393 0.03491
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_000246.4(CIITA):c.*158G>A rs45451491 0.02886
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_000246.4(CIITA):c.520G>A (p.Gly174Arg) rs8046121 0.01506
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) rs35976871 0.01268
NM_000246.4(CIITA):c.*261C>T rs45447897 0.01013
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_000246.4(CIITA):c.*644C>G rs139802594 0.00727
NM_000246.4(CIITA):c.*103T>C rs45617532 0.00711
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_000246.4(CIITA):c.*157C>T rs45526038 0.00565
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_000246.4(CIITA):c.370C>A (p.Pro124Thr) rs77169590 0.00403
NM_000246.4(CIITA):c.*414T>C rs141707720 0.00346
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000246.4(CIITA):c.*927G>A rs45538933 0.00239
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) rs150276623 0.00215
NM_000246.4(CIITA):c.296-20G>A rs75369652 0.00194
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000246.4(CIITA):c.773-18T>G rs75483410 0.00142
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.937+20G>A rs367634505 0.00114
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.1491C>T (p.Ile497=) rs138250353 0.00091
NM_000246.4(CIITA):c.772+12G>A rs149554407 0.00088
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000246.4(CIITA):c.2322C>T (p.Leu774=) rs77072504 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_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.*1126T>G rs145729250 0.00046
NM_000246.4(CIITA):c.*395T>C rs754661893 0.00046
NM_000246.4(CIITA):c.2816+15G>A rs45473496 0.00045
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_000246.4(CIITA):c.*126G>A rs565569961 0.00039
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.592G>A (p.Gly198Ser) rs148279688 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.-115T>G rs189636033 0.00031
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) rs113889330 0.00031
NM_000246.4(CIITA):c.*849T>C rs182641396 0.00030
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 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.826G>A (p.Gly276Ser) rs142461515 0.00022
NM_000246.4(CIITA):c.*673G>A rs779237900 0.00021
NM_000246.4(CIITA):c.1226G>A (p.Arg409Gln) rs745358587 0.00021
NM_000246.4(CIITA):c.1720G>T (p.Ala574Ser) rs148543906 0.00021
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_000246.4(CIITA):c.487C>A (p.Pro163Thr) rs555184617 0.00021
NM_000246.4(CIITA):c.*351C>T rs553581549 0.00019
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu) rs199476061 0.00019
NM_000246.4(CIITA):c.2178C>T (p.Gly726=) rs150014874 0.00018
NM_000246.4(CIITA):c.567G>A (p.Ala189=) rs143123121 0.00018
NM_000246.4(CIITA):c.835A>G (p.Thr279Ala) rs145961289 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.2674A>G (p.Thr892Ala) rs139200062 0.00016
NM_000246.4(CIITA):c.471C>T (p.His157=) rs149990869 0.00016
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 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.1791C>G (p.Leu597=) rs201657235 0.00014
NM_000246.4(CIITA):c.614C>A (p.Thr205Asn) rs200545141 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000246.4(CIITA):c.1148C>A (p.Ala383Asp) rs763945523 0.00012
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000246.4(CIITA):c.294C>T (p.Ile98=) rs200299817 0.00012
NM_000246.4(CIITA):c.3300T>C (p.Pro1100=) rs374199442 0.00012
NM_000246.4(CIITA):c.648G>A (p.Ser216=) rs374843831 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.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000246.4(CIITA):c.300A>G (p.Glu100=) rs578099843 0.00011
NM_000246.4(CIITA):c.3109G>A (p.Glu1037Lys) rs552040932 0.00011
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=) rs201907821 0.00011
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) rs142443082 0.00011
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000246.4(CIITA):c.1225C>T (p.Arg409Trp) rs137895901 0.00010
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000246.4(CIITA):c.*163C>T rs989760698 0.00009
NM_000246.4(CIITA):c.*267A>C rs761701057 0.00009
NM_000246.4(CIITA):c.*303C>T rs779795769 0.00009
NM_000246.4(CIITA):c.*314C>A rs185592699 0.00009
NM_000246.4(CIITA):c.1572C>T (p.Ser524=) rs745753805 0.00009
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) rs199476070 0.00009
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) rs201080914 0.00009
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile) rs150452306 0.00009
NM_000246.4(CIITA):c.*164G>A rs570910497 0.00008
NM_000246.4(CIITA):c.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_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.1787C>T (p.Thr596Met) rs146528748 0.00007
NM_000246.4(CIITA):c.2098C>T (p.Arg700Trp) rs770284013 0.00007
NM_000246.4(CIITA):c.2478A>G (p.Val826=) rs376456953 0.00007
NM_000246.4(CIITA):c.2758T>C (p.Phe920Leu) rs570003993 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn) rs771338224 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val) rs200354120 0.00006
NM_000246.4(CIITA):c.1643G>A (p.Arg548Gln) rs376916824 0.00006
NM_000246.4(CIITA):c.1739G>A (p.Arg580His) rs140269818 0.00006
NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln) rs753947354 0.00006
NM_000246.4(CIITA):c.1843C>T (p.Arg615Trp) rs144630160 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.2819C>T (p.Thr940Met) rs764478189 0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) rs766538754 0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) rs142031278 0.00006
NM_000246.4(CIITA):c.3029C>T (p.Thr1010Ile) rs779295530 0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.455C>T (p.Pro152Leu) rs774695473 0.00006
NM_000246.4(CIITA):c.53-18C>A rs374928136 0.00006
NM_000246.4(CIITA):c.5G>A (p.Arg2His) rs755048657 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_000246.4(CIITA):c.*203C>T rs527874709 0.00005
NM_000246.4(CIITA):c.1929C>A (p.Gly643=) rs558025679 0.00005
NM_000246.4(CIITA):c.2006G>A (p.Arg669His) rs745446439 0.00005
NM_000246.4(CIITA):c.2523G>T (p.Thr841=) rs780897648 0.00005
NM_000246.4(CIITA):c.3063-12G>T rs559875711 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_000246.4(CIITA):c.78G>C (p.Glu26Asp) rs775957955 0.00005
NM_000246.4(CIITA):c.*1092C>T rs886051646 0.00004
NM_000246.4(CIITA):c.*824T>C rs773206666 0.00004
NM_000246.4(CIITA):c.1033C>T (p.Leu345=) rs756276934 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.1488C>T (p.Leu496=) rs757810929 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.1560G>A (p.Ala520=) rs781538086 0.00004
NM_000246.4(CIITA):c.160A>G (p.Met54Val) rs375944925 0.00004
NM_000246.4(CIITA):c.1695G>A (p.Glu565=) rs766945455 0.00004
NM_000246.4(CIITA):c.1702G>A (p.Gly568Ser) rs749343874 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.2099G>A (p.Arg700Gln) rs749350138 0.00004
NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp) rs915701076 0.00004
NM_000246.4(CIITA):c.2154G>A (p.Gly718=) rs201455192 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.2208C>T (p.Tyr736=) rs773230132 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.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.326C>G (p.Ser109Cys) rs375019139 0.00004
NM_000246.4(CIITA):c.602G>A (p.Arg201His) rs563299137 0.00004
NM_000246.4(CIITA):c.657C>T (p.Cys219=) rs775983190 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.1437G>A (p.Ala479=) rs779022639 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.1734G>T (p.Val578=) rs922586393 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.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.2691G>T (p.Glu897Asp) rs764994021 0.00003
NM_000246.4(CIITA):c.2816+5G>C rs772579018 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000246.4(CIITA):c.2935A>G (p.Ile979Val) rs1035273831 0.00003
NM_000246.4(CIITA):c.297G>C (p.Ala99=) rs757438997 0.00003
NM_000246.4(CIITA):c.3014C>G (p.Ser1005Trp) rs759385748 0.00003
NM_000246.4(CIITA):c.3149+12C>A rs747004288 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 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.452T>C (p.Leu151Pro) rs373022799 0.00003
NM_000246.4(CIITA):c.565G>A (p.Ala189Thr) rs370429955 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.781C>T (p.Pro261Ser) rs757943329 0.00003
NM_000246.4(CIITA):c.923G>A (p.Arg308Gln) rs780678285 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_000246.4(CIITA):c.1002G>T (p.Trp334Cys) rs758762166 0.00002
NM_000246.4(CIITA):c.1007-9C>A rs779968345 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.1314T>C (p.Ala438=) rs749994940 0.00002
NM_000246.4(CIITA):c.1344C>A (p.Val448=) rs372566990 0.00002
NM_000246.4(CIITA):c.1436C>T (p.Ala479Val) rs901729238 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.1738C>T (p.Arg580Cys) rs746880514 0.00002
NM_000246.4(CIITA):c.2053G>A (p.Val685Met) rs148144155 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.2536C>T (p.His846Tyr) rs769472311 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.2864G>A (p.Arg955Gln) rs202244966 0.00002
NM_000246.4(CIITA):c.2978C>T (p.Ala993Val) rs547505584 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.436+1G>A rs373613022 0.00002
NM_000246.4(CIITA):c.510T>C (p.Ser170=) rs748253943 0.00002
NM_000246.4(CIITA):c.544C>A (p.Leu182Met) rs747552747 0.00002
NM_000246.4(CIITA):c.615C>T (p.Thr205=) rs749376450 0.00002
NM_000246.4(CIITA):c.626C>T (p.Pro209Leu) rs368326813 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.871G>A (p.Ala291Thr) rs377598648 0.00002
NM_000246.4(CIITA):c.917C>T (p.Thr306Ile) rs1353818826 0.00002
NM_000246.4(CIITA):c.947C>T (p.Thr316Met) rs757632931 0.00002
NM_000246.4(CIITA):c.963C>T (p.Cys321=) rs781290238 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.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.1043C>T (p.Thr348Met) rs757559019 0.00001
NM_000246.4(CIITA):c.1054G>A (p.Glu352Lys) rs752576726 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.1097T>C (p.Val366Ala) rs539096456 0.00001
NM_000246.4(CIITA):c.109C>A (p.Leu37Ile) rs781465355 0.00001
NM_000246.4(CIITA):c.1119C>T (p.Ser373=) rs754000556 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.1155G>A (p.Pro385=) rs930885758 0.00001
NM_000246.4(CIITA):c.1183G>A (p.Gly395Arg) rs953080654 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.1211C>T (p.Ala404Val) rs1392912244 0.00001
NM_000246.4(CIITA):c.1227G>A (p.Arg409=) rs1182379244 0.00001
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln) rs572327540 0.00001
NM_000246.4(CIITA):c.1245G>A (p.Val415=) rs2039185777 0.00001
NM_000246.4(CIITA):c.1253T>C (p.Val418Ala) rs142317834 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.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.1329C>G (p.Pro443=) rs2039192663 0.00001
NM_000246.4(CIITA):c.1341T>C (p.Phe447=) rs1383010151 0.00001
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu) rs774567918 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.1444G>A (p.Glu482Lys) rs772224355 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.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.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.1699T>C (p.Ser567Pro) rs1352205920 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
NM_000246.4(CIITA):c.1722C>G (p.Ala574=) rs756418386 0.00001
NM_000246.4(CIITA):c.1732G>A (p.Val578Met) rs151195889 0.00001
NM_000246.4(CIITA):c.1752C>T (p.Ser584=) rs1422641245 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.1842C>T (p.Cys614=) rs201489439 0.00001
NM_000246.4(CIITA):c.1856A>G (p.Gln619Arg) rs371603520 0.00001
NM_000246.4(CIITA):c.1920C>T (p.Leu640=) rs1429664949 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.1965G>A (p.Gly655=) rs199548540 0.00001
NM_000246.4(CIITA):c.1981G>A (p.Ala661Thr) rs767235099 0.00001
NM_000246.4(CIITA):c.199+1G>A rs777089127 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.2027A>T (p.Gln676Leu) rs574001136 0.00001
NM_000246.4(CIITA):c.2067G>A (p.Ala689=) rs1423175671 0.00001
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg) rs886051642 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.2135T>C (p.Leu712Pro) rs1271532108 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.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.2325G>A (p.Gly775=) rs1165450302 0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) rs199476072 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.2410C>T (p.Arg804Trp) rs781244775 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.2458G>A (p.Gly820Arg) rs2039291800 0.00001
NM_000246.4(CIITA):c.2470C>G (p.His824Asp) rs1156383695 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.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.2562G>A (p.Ala854=) rs1202117070 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.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.2671G>A (p.Asp891Asn) rs745913823 0.00001
NM_000246.4(CIITA):c.2683C>T (p.Leu895=) rs776323785 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.276G>A (p.Arg92=) rs149531285 0.00001
NM_000246.4(CIITA):c.2772C>T (p.Ser924=) rs1332434918 0.00001
NM_000246.4(CIITA):c.2773C>G (p.Leu925Val) rs1193901367 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.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala) rs747917501 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.2899G>T (p.Val967Phe) rs201571405 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.3004G>A (p.Glu1002Lys) rs762687010 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.3127G>A (p.Ala1043Thr) rs1216256055 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.3206C>T (p.Pro1069Leu) rs147935554 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.3290G>A (p.Arg1097Gln) rs143260110 0.00001
NM_000246.4(CIITA):c.3311C>T (p.Thr1104Met) rs367805896 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.3326C>T (p.Thr1109Met) rs1013962316 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.3377G>A (p.Arg1126Gln) rs1596619583 0.00001
NM_000246.4(CIITA):c.395T>C (p.Met132Thr) rs781384047 0.00001
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) rs757017931 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000246.4(CIITA):c.438C>T (p.Pro146=) rs565948365 0.00001
NM_000246.4(CIITA):c.481+7A>G rs780081931 0.00001
NM_000246.4(CIITA):c.482C>G (p.Ala161Gly) rs763457920 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.566C>T (p.Ala189Val) rs149076617 0.00001
NM_000246.4(CIITA):c.594C>G (p.Gly198=) rs761263869 0.00001
NM_000246.4(CIITA):c.601C>T (p.Arg201Cys) rs543712859 0.00001
NM_000246.4(CIITA):c.628+10G>T rs761755713 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.681C>A (p.Ile227=) rs750616786 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.738T>A (p.Ala246=) rs771807788 0.00001
NM_000246.4(CIITA):c.744A>T (p.Thr248=) rs565678751 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.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.847C>T (p.Arg283Trp) rs556369319 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.922C>T (p.Arg308Ter) rs567218474 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
NC_000016.10:g.(?_10877311)_(10923323_?)del
NC_000016.9:g.(?_10971168)_(10971259_?)del
NC_000016.9:g.(?_11000336)_(11017160_?)del
NM_000246.4(CIITA):c.*1122A>G rs1446926082
NM_000246.4(CIITA):c.*23-7G>C rs4780336
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+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+3G>A rs980367583
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.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.1012del (p.Val338fs)
NM_000246.4(CIITA):c.1019A>G (p.Gln340Arg) rs772860663
NM_000246.4(CIITA):c.1026C>T (p.Tyr342=) rs1209081776
NM_000246.4(CIITA):c.1027C>T (p.Arg343Cys)
NM_000246.4(CIITA):c.1028G>T (p.Arg343Leu) rs765940448
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.1042A>G (p.Thr348Ala) rs568273747
NM_000246.4(CIITA):c.1043C>G (p.Thr348Arg)
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.1049del (p.Gly350fs)
NM_000246.4(CIITA):c.1053C>A (p.Ala351=)
NM_000246.4(CIITA):c.1054G>C (p.Glu352Gln) rs752576726
NM_000246.4(CIITA):c.1054_1058del (p.Glu352fs)
NM_000246.4(CIITA):c.1056G>A (p.Glu352=) rs2144694185
NM_000246.4(CIITA):c.105G>A (p.Leu35=)
NM_000246.4(CIITA):c.1060G>A (p.Ala354Thr)
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.1075A>G (p.Ile359Val) rs2039171491
NM_000246.4(CIITA):c.1076T>C (p.Ile359Thr) rs2039171653
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.1099C>T (p.Gln367Ter)
NM_000246.4(CIITA):c.1101G>A (p.Gln367=) rs2144696164
NM_000246.4(CIITA):c.1104C>T (p.Ala368=)
NM_000246.4(CIITA):c.1106G>C (p.Arg369Thr) rs2039173383
NM_000246.4(CIITA):c.1107G>T (p.Arg369Ser)
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.112C>T (p.Leu38Phe) rs751437463
NM_000246.4(CIITA):c.1139G>A (p.Arg380Gln)
NM_000246.4(CIITA):c.1140G>C (p.Arg380=) rs2144697627
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val) rs763945523
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.1168C>T (p.Arg390Trp) 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.1190T>C (p.Leu397Pro)
NM_000246.4(CIITA):c.1190del (p.Leu397fs) rs2039181631
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.1215G>T (p.Lys405Asn) rs886051638
NM_000246.4(CIITA):c.1220A>G (p.His407Arg) rs2144700429
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.1230_1231delinsAT (p.Arg411Cys)
NM_000246.4(CIITA):c.1236G>A (p.Glu412=) rs2039185021
NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter) rs2144701260
NM_000246.4(CIITA):c.1241G>T (p.Arg414Leu) rs572327540
NM_000246.4(CIITA):c.1250C>T (p.Ala417Val)
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.1264G>T (p.Ala422Ser)
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.1296A>T (p.Ala432=) rs886051639
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.1303C>A (p.Arg435=)
NM_000246.4(CIITA):c.1303C>T (p.Arg435Trp)
NM_000246.4(CIITA):c.1305G>A (p.Arg435=)
NM_000246.4(CIITA):c.1307C>A (p.Ala436Asp) rs1482043368
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.1321C>T (p.Arg441Trp)
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.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.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.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.1383T>C (p.Asp461=) rs1359597737
NM_000246.4(CIITA):c.1383dup (p.Ala462fs) rs2039198631
NM_000246.4(CIITA):c.1386C>T (p.Ala462=)
NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter) rs1306793050
NM_000246.4(CIITA):c.1395G>A (p.Leu465=)
NM_000246.4(CIITA):c.1395G>C (p.Leu465=)
NM_000246.4(CIITA):c.1399del (p.Asp467fs)
NM_000246.4(CIITA):c.139C>G (p.Leu47Val) rs1247471372
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.1423C>T (p.Gln475Ter)
NM_000246.4(CIITA):c.1431C>G (p.Leu477=) rs756459269
NM_000246.4(CIITA):c.1431C>T (p.Leu477=)
NM_000246.4(CIITA):c.1432G>T (p.Val478Leu)
NM_000246.4(CIITA):c.1437G>C (p.Ala479=) rs779022639
NM_000246.4(CIITA):c.1448T>C (p.Val483Ala)
NM_000246.4(CIITA):c.144C>T (p.Tyr48=)
NM_000246.4(CIITA):c.145_147del (p.His49del)
NM_000246.4(CIITA):c.1461C>T (p.Ile487=)
NM_000246.4(CIITA):c.1463T>G (p.Leu488Trp) rs2039205639
NM_000246.4(CIITA):c.1476C>G (p.Asp492Glu)
NM_000246.4(CIITA):c.1476C>T (p.Asp492=) rs763054530
NM_000246.4(CIITA):c.1477C>T (p.Arg493Cys)
NM_000246.4(CIITA):c.1479C>T (p.Arg493=)
NM_000246.4(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.4(CIITA):c.1483C>T (p.Leu495=) rs2144709560
NM_000246.4(CIITA):c.1484T>G (p.Leu495Arg)
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.4(CIITA):c.1494A>G (p.Leu498=) rs2144710162
NM_000246.4(CIITA):c.1502_1511del (p.Phe501fs) rs2144710452
NM_000246.4(CIITA):c.1510C>T (p.Leu504=)
NM_000246.4(CIITA):c.1518G>C (p.Ala506=)
NM_000246.4(CIITA):c.1518del (p.Gln507fs)
NM_000246.4(CIITA):c.1524T>C (p.Asp508=) rs2039212606
NM_000246.4(CIITA):c.1526G>A (p.Gly509Asp)
NM_000246.4(CIITA):c.1532T>C (p.Leu511Pro)
NM_000246.4(CIITA):c.1536C>T (p.His512=) rs2144711700
NM_000246.4(CIITA):c.1536_1537insTTGCGGTC (p.Ser513fs) rs2144711765
NM_000246.4(CIITA):c.1537A>T (p.Ser513Cys)
NM_000246.4(CIITA):c.1538G>A (p.Ser513Asn) rs2039214040
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.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.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.1558G>T (p.Ala520Ser) rs747042657
NM_000246.4(CIITA):c.1566del (p.Cys523fs)
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.1576C>T (p.Arg526Trp)
NM_000246.4(CIITA):c.1578G>A (p.Arg526=)
NM_000246.4(CIITA):c.1578G>C (p.Arg526=)
NM_000246.4(CIITA):c.1580G>C (p.Gly527Ala)
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.1594C>T (p.Leu532Phe) rs375800045
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.1615C>G (p.Arg539Gly)
NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter)
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.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.1650G>A (p.Arg550=)
NM_000246.4(CIITA):c.1650G>C (p.Arg550=) rs1596552207
NM_000246.4(CIITA):c.1651G>C (p.Gly551Arg)
NM_000246.4(CIITA):c.1654C>A (p.Arg552Ser)
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.1685C>A (p.Ala562Asp)
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.1717C>T (p.Gln573Ter) rs2144718631
NM_000246.4(CIITA):c.1719G>T (p.Gln573His)
NM_000246.4(CIITA):c.171T>C (p.Ala57=)
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.1746T>C (p.Phe582=) rs769523379
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.1758G>A (p.Gly586=) rs1596552734
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.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.1801C>G (p.Arg601Gly) rs569634954
NM_000246.4(CIITA):c.1801C>T (p.Arg601Trp) rs569634954
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.1844G>A (p.Arg615Gln) rs769140062
NM_000246.4(CIITA):c.1847del (p.Ala616fs)
NM_000246.4(CIITA):c.1848A>G (p.Ala616=)
NM_000246.4(CIITA):c.1849G>A (p.Val617Met) rs1464337726
NM_000246.4(CIITA):c.1854C>T (p.Cys618=)
NM_000246.4(CIITA):c.1857G>A (p.Gln619=) rs2144722976
NM_000246.4(CIITA):c.185T>C (p.Ile62Thr)
NM_000246.4(CIITA):c.1863dup (p.Glu622fs) rs2144723164
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.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.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.190C>T (p.Leu64Phe) rs2144284508
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.1916G>T (p.Gly639Val) rs376577994
NM_000246.4(CIITA):c.1917A>G (p.Gly639=) rs2144724909
NM_000246.4(CIITA):c.1920_1921insGA (p.Tyr641fs)
NM_000246.4(CIITA):c.1922_1923del (p.Tyr641fs)
NM_000246.4(CIITA):c.1924G>A (p.Val642Ile)
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys) rs949731275
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.1939C>A (p.Arg647Ser) rs372705496
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.1951G>A (p.Asp651Asn)
NM_000246.4(CIITA):c.1956C>G (p.Ser652Arg)
NM_000246.4(CIITA):c.1956C>T (p.Ser652=)
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.1959C>T (p.Pro653=) rs2144726491
NM_000246.4(CIITA):c.195C>T (p.Tyr65=)
NM_000246.4(CIITA):c.1960C>G (p.Pro654Ala)
NM_000246.4(CIITA):c.1961C>A (p.Pro654His)
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.1962del (p.Ala656fs) rs778982759
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.4(CIITA):c.1963G>C (p.Gly655Arg) rs919087827
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.196T>G (p.Ser66Ala)
NM_000246.4(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.4(CIITA):c.1974A>C (p.Ala658=)
NM_000246.4(CIITA):c.1975G>C (p.Glu659Gln)
NM_000246.4(CIITA):c.1977G>T (p.Glu659Asp)
NM_000246.4(CIITA):c.1983C>T (p.Ala661=) rs2144727515
NM_000246.4(CIITA):c.1984_1992dup (p.Ala664_Trp665insLysLeuAla)
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.199+6C>T rs778670190
NM_000246.4(CIITA):c.199+89C>T rs11074937
NM_000246.4(CIITA):c.1992C>T (p.Ala664=)
NM_000246.4(CIITA):c.200-17G>A rs2144298630
NM_000246.4(CIITA):c.200-1G>C
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.2014C>T (p.Gln672Ter) rs2144728494
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.2026C>T (p.Gln676Ter) rs901844850
NM_000246.4(CIITA):c.2034C>T (p.Asp678=) rs2144729188
NM_000246.4(CIITA):c.2035C>A (p.Gln679Lys)
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.2053G>C (p.Val685Leu) rs148144155
NM_000246.4(CIITA):c.2053G>T (p.Val685Leu) rs148144155
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter) rs863223293
NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter)
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.2079C>G (p.Gly693=)
NM_000246.4(CIITA):c.2079C>T (p.Gly693=)
NM_000246.4(CIITA):c.2081T>C (p.Leu694Ser) rs1029760849
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.2103del (p.Ala702fs)
NM_000246.4(CIITA):c.2106A>T (p.Ala702=)
NM_000246.4(CIITA):c.2109G>A (p.Glu703=)
NM_000246.4(CIITA):c.2111C>T (p.Ser704Phe)
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.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.2115G>A (p.Glu705=) rs2144732774
NM_000246.4(CIITA):c.2117T>G (p.Leu706Arg) rs1476149752
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.2163G>A (p.Trp721Ter)
NM_000246.4(CIITA):c.2179G>A (p.Glu727Lys) rs548646642
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.2201C>T (p.Pro734Leu)
NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter)
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.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.2247C>T (p.Asn749=) rs2039274273
NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter)
NM_000246.4(CIITA):c.2253G>A (p.Leu751=)
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.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.2290del (p.Gln764fs) rs1064794659
NM_000246.4(CIITA):c.2292G>A (p.Gln764=)
NM_000246.4(CIITA):c.2295T>A (p.Pro765=)
NM_000246.4(CIITA):c.2296C>T (p.Pro766Ser)
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.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.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.2320C>T (p.Leu774Phe) rs2144738107
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.2323G>A (p.Gly775Arg)
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.2342C>G (p.Ser781Trp) rs13330686
NM_000246.4(CIITA):c.2343G>C (p.Ser781=) rs749019138
NM_000246.4(CIITA):c.2346G>A (p.Val782=)
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.2361G>A (p.Lys787=)
NM_000246.4(CIITA):c.2365C>T (p.Leu789Phe) rs2144739803
NM_000246.4(CIITA):c.2368G>T (p.Ala790Ser)
NM_000246.4(CIITA):c.2370G>C (p.Ala790=)
NM_000246.4(CIITA):c.2377C>G (p.Leu793Val) rs34082539
NM_000246.4(CIITA):c.2377C>T (p.Leu793=)
NM_000246.4(CIITA):c.2383C>T (p.Arg795Trp)
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.2396G>A (p.Gly799Glu) rs267604408
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.2406_2437del (p.Ala803fs)
NM_000246.4(CIITA):c.2411G>A (p.Arg804Gln)
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.2422G>C (p.Glu808Gln) rs2144741760
NM_000246.4(CIITA):c.2430G>A (p.Leu810=)
NM_000246.4(CIITA):c.2433C>T (p.His811=) rs2144741990
NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)
NM_000246.4(CIITA):c.2437G>A (p.Ala813Thr)
NM_000246.4(CIITA):c.2439C>G (p.Ala813=)
NM_000246.4(CIITA):c.2444del (p.Glu815fs)
NM_000246.4(CIITA):c.2448C>G (p.Ala816=) rs112250421
NM_000246.4(CIITA):c.2455G>C (p.Ala819Pro)
NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter)
NM_000246.4(CIITA):c.2473G>A (p.Val825Met) rs773619622
NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter) rs2144743127
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.2490del (p.Gly831fs) rs2144743381
NM_000246.4(CIITA):c.2491G>A (p.Gly831Ser)
NM_000246.4(CIITA):c.2493C>G (p.Gly831=)
NM_000246.4(CIITA):c.2494C>T (p.Arg832Cys) rs778521786
NM_000246.4(CIITA):c.2495G>A (p.Arg832His)
NM_000246.4(CIITA):c.2499C>T (p.Leu833=)
NM_000246.4(CIITA):c.2507T>C (p.Leu836Pro)
NM_000246.4(CIITA):c.2510G>A (p.Gly837Asp) rs2039296050
NM_000246.4(CIITA):c.2514C>A (p.Thr838=)
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.2516G>A (p.Arg839His)
NM_000246.4(CIITA):c.2517C>A (p.Arg839=)
NM_000246.4(CIITA):c.2517C>T (p.Arg839=) rs2039296769
NM_000246.4(CIITA):c.2522C>G (p.Thr841Arg) rs1159888268
NM_000246.4(CIITA):c.2522C>T (p.Thr841Met)
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.2526del (p.Pro843fs) rs2144745003
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.2537A>G (p.His846Arg)
NM_000246.4(CIITA):c.2538T>C (p.His846=)
NM_000246.4(CIITA):c.2539G>C (p.Val847Leu)
NM_000246.4(CIITA):c.2544G>A (p.Leu848=) rs1567423502
NM_000246.4(CIITA):c.2546G>T (p.Gly849Val)
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.2557G>A (p.Glu853Lys)
NM_000246.4(CIITA):c.2562G>C (p.Ala854=)
NM_000246.4(CIITA):c.2563del (p.Ala855fs)
NM_000246.4(CIITA):c.2565G>C (p.Ala855=)
NM_000246.4(CIITA):c.2567del (p.Gly856fs)
NM_000246.4(CIITA):c.2577C>T (p.Phe859=)
NM_000246.4(CIITA):c.2581C>T (p.Leu861=)
NM_000246.4(CIITA):c.2591_2595del (p.Arg864fs)
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.2609C>T (p.Pro870Leu)
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.2614G>A (p.Gly872Arg)
NM_000246.4(CIITA):c.261T>G (p.Gly87=) rs1596499803
NM_000246.4(CIITA):c.2625C>G (p.Ser875Arg) rs775002771
NM_000246.4(CIITA):c.2629G>A (p.Val877Met)
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+1G>A rs2039309312
NM_000246.4(CIITA):c.2657+20G>A
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.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.2677G>A (p.Val893Met) rs1465075738
NM_000246.4(CIITA):c.2679G>A (p.Val893=) rs914514578
NM_000246.4(CIITA):c.2681C>T (p.Ala894Val)
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.2698C>T (p.Gln900Ter)
NM_000246.4(CIITA):c.2698_2699inv (p.Gln900Trp)
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.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.2740A>T (p.Lys914Ter) rs2144769768
NM_000246.4(CIITA):c.2755C>G (p.Pro919Ala) rs1302154334
NM_000246.4(CIITA):c.275G>A (p.Arg92Lys)
NM_000246.4(CIITA):c.2760C>T (p.Phe920=) rs1039869401
NM_000246.4(CIITA):c.2763A>G (p.Lys921=)
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.2775_2777delinsTT (p.Lys926fs)
NM_000246.4(CIITA):c.2781T>C (p.Asp927=)
NM_000246.4(CIITA):c.2785G>A (p.Glu929Lys)
NM_000246.4(CIITA):c.2786A>G (p.Glu929Gly)
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+14C>T rs191941806
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.2828_2829insTG (p.Ser944fs) rs2144800871
NM_000246.4(CIITA):c.2829C>T (p.Ser943=)
NM_000246.4(CIITA):c.282T>C (p.Ala94=)
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.2844T>C (p.Ala948=)
NM_000246.4(CIITA):c.2846G>T (p.Gly949Val)
NM_000246.4(CIITA):c.2856T>A (p.Pro952=)
NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly) rs867193240
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.2888C>T (p.Ala963Val)
NM_000246.4(CIITA):c.2889-13C>T
NM_000246.4(CIITA):c.2889-1G>T rs748505119
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.2889-9G>T 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>G (p.Phe973Leu) rs199886989
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.2932C>T (p.Arg978Trp) rs1003764418
NM_000246.4(CIITA):c.2940C>G (p.Leu980=)
NM_000246.4(CIITA):c.2942C>T (p.Thr981Met) rs369744959
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.2965C>G (p.Leu989Val) rs1256846733
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.2970-74G>T rs6498130
NM_000246.4(CIITA):c.2970-7C>A
NM_000246.4(CIITA):c.2974G>A (p.Asp992Asn) rs2039949687
NM_000246.4(CIITA):c.2976T>C (p.Asp992=) rs2144994568
NM_000246.4(CIITA):c.297G>A (p.Ala99=) rs757438997
NM_000246.4(CIITA):c.297G>T (p.Ala99=)
NM_000246.4(CIITA):c.2982G>A (p.Leu994=)
NM_000246.4(CIITA):c.2985T>G (p.Ser995Arg) rs1235099545
NM_000246.4(CIITA):c.2987A>C (p.Glu996Ala)
NM_000246.4(CIITA):c.2988G>A (p.Glu996=)
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.3024A>G (p.Ser1008=)
NM_000246.4(CIITA):c.3025_3026delinsAA (p.Ala1009Asn) rs1596593191
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+14G>A rs370557976
NM_000246.4(CIITA):c.3062+14G>T rs370557976
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.3062+2T>C rs2039957389
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.3088C>G (p.Leu1030Val) rs763766993
NM_000246.4(CIITA):c.3098_3116del (p.Tyr1033fs)
NM_000246.4(CIITA):c.3105C>A (p.Leu1035=)
NM_000246.4(CIITA):c.3106G>T (p.Ala1036Ser) rs775994032
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.311A>T (p.Tyr104Phe) rs747941848
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.3147_3149+2del rs2145059680
NM_000246.4(CIITA):c.3149+10del rs1417667688
NM_000246.4(CIITA):c.3149+14C>T rs768680467
NM_000246.4(CIITA):c.3149+14del
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+6_3149+12del
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.3170G>A (p.Cys1057Tyr)
NM_000246.4(CIITA):c.3177G>T (p.Val1059=)
NM_000246.4(CIITA):c.3183C>T (p.Ala1061=) rs150928735
NM_000246.4(CIITA):c.3184G>A (p.Glu1062Lys)
NM_000246.4(CIITA):c.3196C>T (p.Arg1066Cys)
NM_000246.4(CIITA):c.3198T>G (p.Arg1066=) rs2145147118
NM_000246.4(CIITA):c.319C>G (p.Gln107Glu) rs1292657015
NM_000246.4(CIITA):c.3219C>A (p.Ser1073=) rs1427439897
NM_000246.4(CIITA):c.321G>A (p.Gln107=)
NM_000246.4(CIITA):c.3223C>T (p.Arg1075Trp)
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+8_3233+9del rs774399663
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.3239A>G (p.Gln1080Arg)
NM_000246.4(CIITA):c.323A>T (p.Asp108Val)
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.3318-7del
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.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.3327G>C (p.Thr1109=) rs776446459
NM_000246.4(CIITA):c.3327G>T (p.Thr1109=)
NM_000246.4(CIITA):c.3329C>A (p.Pro1110His)
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.3346G>A (p.Val1116Ile) rs1283110743
NM_000246.4(CIITA):c.3348C>G (p.Val1116=)
NM_000246.4(CIITA):c.3352G>A (p.Glu1118Lys) rs1555509348
NM_000246.4(CIITA):c.3354A>G (p.Glu1118=) rs2145172825
NM_000246.4(CIITA):c.3361C>A (p.Gln1121Lys) rs2145173097
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter) rs2145173097
NM_000246.4(CIITA):c.3366A>G (p.Gln1122=) rs2145173162
NM_000246.4(CIITA):c.3368A>G (p.Gln1123Arg)
NM_000246.4(CIITA):c.3376C>T (p.Arg1126Trp) rs753124646
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.338dup (p.Leu114fs) rs1596513253
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.359-2A>G rs2144414230
NM_000246.4(CIITA):c.359-67T>G rs6498121
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.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.372A>G (p.Pro124=)
NM_000246.4(CIITA):c.376G>T (p.Glu126Ter)
NM_000246.4(CIITA):c.378A>G (p.Glu126=)
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.387T>G (p.Gly129=) rs2144415791
NM_000246.4(CIITA):c.393T>C (p.Ser131=)
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.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+1G>C
NM_000246.4(CIITA):c.436+2T>C
NM_000246.4(CIITA):c.436+3G>C rs2038430186
NM_000246.4(CIITA):c.436+7G>A rs1596514947
NM_000246.4(CIITA):c.436C>T (p.Pro146Ser)
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.437C>G (p.Pro146Arg) rs770295658
NM_000246.4(CIITA):c.446A>G (p.Glu149Gly) rs773558566
NM_000246.4(CIITA):c.447G>A (p.Glu149=) rs910534495
NM_000246.4(CIITA):c.450G>A (p.Glu150=)
NM_000246.4(CIITA):c.451C>A (p.Leu151Ile)
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+10G>T rs2144538393
NM_000246.4(CIITA):c.481+1G>A
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.482-1G>C
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.491C>G (p.Pro164Arg) rs886051637
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.494C>A (p.Thr165Asn) rs34648899
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) 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.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.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.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.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>C (p.Ala189=) rs143123121
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.583C>A (p.Pro195Thr) rs1462945790
NM_000246.4(CIITA):c.587_597del (p.Ala196fs)
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.607G>A (p.Glu203Lys) rs529296576
NM_000246.4(CIITA):c.609G>A (p.Glu203=) rs1484428049
NM_000246.4(CIITA):c.616G>T (p.Asp206Tyr) rs771338224
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+4T>A rs2038824184
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.630_633del (p.Met210fs) rs2038865240
NM_000246.4(CIITA):c.632C>A (p.Pro211His) rs2038865646
NM_000246.4(CIITA):c.632del (p.Pro211fs) rs2144580551
NM_000246.4(CIITA):c.635T>C (p.Phe212Ser) rs2144580744
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.654C>A (p.Ser218Arg) rs369197968
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.682C>T (p.Gln228Ter) rs2144582937
NM_000246.4(CIITA):c.685T>C (p.Phe229Leu)
NM_000246.4(CIITA):c.693C>T (p.Pro231=) rs1233542462
NM_000246.4(CIITA):c.695C>A (p.Thr232Asn)
NM_000246.4(CIITA):c.699C>A (p.Ile233=) rs2144583968
NM_000246.4(CIITA):c.69C>T (p.Ala23=)
NM_000246.4(CIITA):c.701C>G (p.Ser234Cys)
NM_000246.4(CIITA):c.701C>T (p.Ser234Phe)
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.718C>T (p.Leu240Phe)
NM_000246.4(CIITA):c.719T>C (p.Leu240Pro)
NM_000246.4(CIITA):c.720C>A (p.Leu240=)
NM_000246.4(CIITA):c.724C>A (p.Gln242Lys)
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.740G>A (p.Gly247Glu) rs2038873856
NM_000246.4(CIITA):c.744A>G (p.Thr248=)
NM_000246.4(CIITA):c.746G>A (p.Gly249Glu)
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+12del rs766452566
NM_000246.4(CIITA):c.772+13C>A
NM_000246.4(CIITA):c.772+18C>T
NM_000246.4(CIITA):c.772+1G>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.773-11C>T rs767721211
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.773-8del
NM_000246.4(CIITA):c.773-9C>G rs756972663
NM_000246.4(CIITA):c.773-9C>T rs756972663
NM_000246.4(CIITA):c.777G>A (p.Glu259=)
NM_000246.4(CIITA):c.789C>G (p.Ala263=) rs2038944749
NM_000246.4(CIITA):c.789C>T (p.Ala263=)
NM_000246.4(CIITA):c.791G>A (p.Ser264Asn) rs2038944863
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.800C>A (p.Pro267His) rs1177628564
NM_000246.4(CIITA):c.801C>T (p.Pro267=) rs1361514280
NM_000246.4(CIITA):c.802_803dup (p.Pro269fs) rs2144614170
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.823C>T (p.His275Tyr)
NM_000246.4(CIITA):c.837A>G (p.Thr279=) rs2038948214
NM_000246.4(CIITA):c.839C>T (p.Ser280Phe)
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.848G>A (p.Arg283Gln)
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.854G>A (p.Gly285Asp) rs752824545
NM_000246.4(CIITA):c.855C>A (p.Gly285=)
NM_000246.4(CIITA):c.872C>T (p.Ala291Val)
NM_000246.4(CIITA):c.888C>A (p.Asp296Glu)
NM_000246.4(CIITA):c.888C>T (p.Asp296=) rs754504346
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.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.929A>T (p.Asn310Ile) rs1567409783
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+2T>C
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.938-2A>G rs2144645392
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.950C>T (p.Ser317Phe)
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.961T>C (p.Cys321Arg) rs2039023316
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000246.4(CIITA):c.966G>A (p.Pro322=)
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>A (p.Glu326=) rs2144647014
NM_000246.4(CIITA):c.978G>C (p.Glu326Asp)
NM_000246.4(CIITA):c.979G>A (p.Val327Ile) rs148597952
NM_000246.4(CIITA):c.981C>T (p.Val327=)
NM_000246.4(CIITA):c.985A>C (p.Asn329His)
NM_000246.4(CIITA):c.989A>G (p.Lys330Arg)
NM_000246.4(CIITA):c.993T>C (p.Leu331=)
NM_000246.4(CIITA):c.996A>C (p.Pro332=)
NM_000246.4(CIITA):c.997A>G (p.Lys333Glu)

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