ClinVar Miner

List of variants reported as uncertain significance for MHC class I deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile) rs147150415 0.00073
NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val) rs78328107 0.00068
NM_000593.6(TAP1):c.809G>A (p.Arg270His) rs140245535 0.00061
NM_000593.6(TAP1):c.739G>A (p.Gly247Arg) rs59328013 0.00057
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val) rs145691938 0.00052
NM_000593.6(TAP1):c.782A>C (p.Gln261Pro) rs143954070 0.00046
NM_003190.5(TAPBP):c.556C>T (p.Pro186Ser) rs145952108 0.00044
NM_003190.5(TAPBP):c.590C>T (p.Pro197Leu) rs149606847 0.00043
NM_001290043.2(TAP2):c.767A>G (p.Asp256Gly) rs140310179 0.00037
NM_001290043.2(TAP2):c.1655A>G (p.Glu552Gly) rs151064661 0.00031
NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln) rs138708621 0.00031
NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr) rs146216992 0.00031
NC_000006.12:g.32853779G>A rs202053684 0.00029
NM_000593.6(TAP1):c.1115C>T (p.Ser372Leu) rs147332077 0.00029
NM_003190.5(TAPBP):c.974G>A (p.Gly325Asp) rs200280998 0.00029
NM_000593.6(TAP1):c.1594G>A (p.Glu532Lys) rs149812348 0.00025
NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys) rs145890763 0.00023
NM_000593.6(TAP1):c.-59C>T rs554237124 0.00022
NM_000593.6(TAP1):c.746A>G (p.Tyr249Cys) rs143185338 0.00022
NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu) rs139666009 0.00021
NM_000593.6(TAP1):c.11C>T (p.Ser4Phe) rs571573117 0.00019
NM_000593.6(TAP1):c.1329C>A (p.Asn443Lys) rs138099433 0.00019
NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln) rs373810087 0.00018
NC_000006.12:g.32853800G>A rs777274470 0.00017
NC_000006.12:g.32853762C>A rs753996695 0.00014
NM_000593.6(TAP1):c.19C>T (p.Pro7Ser) rs375389015 0.00014
NM_000593.6(TAP1):c.4G>A (p.Ala2Thr) rs767256206 0.00014
NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn) rs372354865 0.00014
NM_000593.6(TAP1):c.629G>A (p.Arg210His) rs550037204 0.00013
NM_001290043.2(TAP2):c.1588G>A (p.Asp530Asn) rs140969189 0.00013
NC_000006.12:g.32853720G>C rs770558961 0.00011
NM_000593.6(TAP1):c.2040+6G>A rs371984928 0.00011
NM_001290043.2(TAP2):c.937C>T (p.Arg313Cys) rs140532996 0.00011
NM_003190.5(TAPBP):c.619C>T (p.Arg207Ter) rs767195857 0.00010
NM_000593.6(TAP1):c.1070G>A (p.Arg357Gln) rs754828996 0.00009
NM_000593.6(TAP1):c.152C>T (p.Ala51Val) rs781699375 0.00009
NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys) rs1168560265 0.00009
NM_000593.6(TAP1):c.881C>T (p.Thr294Ile) rs139346862 0.00009
NM_001290043.2(TAP2):c.1087C>T (p.Arg363Trp) rs573005983 0.00009
NM_001290043.2(TAP2):c.157C>G (p.Leu53Val) rs144282514 0.00009
NM_001290043.2(TAP2):c.2020G>A (p.Val674Met) rs763950001 0.00009
NM_001290043.2(TAP2):c.2051C>T (p.Ala684Val) rs184698711 0.00009
NM_001290043.2(TAP2):c.97C>G (p.Gln33Glu) rs775446813 0.00009
NM_003190.5(TAPBP):c.913G>A (p.Ala305Thr) rs199710908 0.00009
NM_001290043.2(TAP2):c.1769A>G (p.Gln590Arg) rs762266476 0.00007
NM_003190.5(TAPBP):c.1069G>A (p.Asp357Asn) rs376210117 0.00007
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp) rs772349873 0.00007
NC_000006.12:g.32853783A>G rs765553023 0.00006
NM_000593.6(TAP1):c.1294C>A (p.Gln432Lys) rs142567918 0.00006
NM_000593.6(TAP1):c.1601C>T (p.Thr534Met) rs192572056 0.00006
NM_000593.6(TAP1):c.302C>T (p.Ala101Val) rs375437555 0.00006
NM_001290043.2(TAP2):c.1102C>T (p.Arg368Trp) rs905027019 0.00006
NM_001290043.2(TAP2):c.115T>C (p.Trp39Arg) rs776491919 0.00006
NM_001290043.2(TAP2):c.1402G>A (p.Val468Met) rs145903803 0.00006
NM_001290043.2(TAP2):c.1499C>T (p.Ala500Val) rs150217191 0.00006
NM_001290043.2(TAP2):c.2029G>A (p.Glu677Lys) rs887743515 0.00006
NM_001290043.2(TAP2):c.400A>G (p.Asn134Asp) rs376051965 0.00006
NM_001290043.2(TAP2):c.515A>T (p.Tyr172Phe) rs777069495 0.00006
NM_001290043.2(TAP2):c.817C>G (p.Arg273Gly) rs61736923 0.00006
NM_003190.5(TAPBP):c.820C>T (p.His274Tyr) rs145571132 0.00006
NM_000593.6(TAP1):c.1354A>G (p.Met452Val) rs768766706 0.00005
NM_000593.6(TAP1):c.704C>G (p.Thr235Ser) rs147066418 0.00005
NM_001290043.2(TAP2):c.*23G>A rs758979131 0.00005
NM_001290043.2(TAP2):c.1028G>A (p.Arg343His) rs376467259 0.00005
NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile) rs765178638 0.00005
NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu) rs142416547 0.00005
NM_000593.6(TAP1):c.175G>A (p.Ala59Thr) rs45538133 0.00004
NM_000593.6(TAP1):c.1957T>A (p.Leu653Met) rs772090667 0.00004
NM_000593.6(TAP1):c.2081G>A (p.Arg694His) rs566329319 0.00004
NM_000593.6(TAP1):c.2140T>C (p.Phe714Leu) rs1272906792 0.00004
NM_000593.6(TAP1):c.284C>T (p.Ala95Val) rs1383030445 0.00004
NM_000593.6(TAP1):c.362C>T (p.Ala121Val) rs762677297 0.00004
NM_001290043.2(TAP2):c.1091A>G (p.Gln364Arg) rs145030658 0.00004
NM_001290043.2(TAP2):c.1742A>G (p.Gln581Arg) rs764973712 0.00004
NM_001290043.2(TAP2):c.1855C>T (p.Arg619Trp) rs772061173 0.00004
NM_001290043.2(TAP2):c.1868G>A (p.Arg623Gln) rs778896765 0.00004
NM_001290043.2(TAP2):c.677G>A (p.Arg226Gln) rs371802164 0.00004
NM_003190.5(TAPBP):c.562A>T (p.Thr188Ser) rs561629511 0.00004
NM_003190.5(TAPBP):c.634G>A (p.Gly212Ser) rs371603958 0.00004
NM_003190.5(TAPBP):c.845del (p.Val282fs) rs765712832 0.00004
NM_003190.5(TAPBP):c.926C>A (p.Ala309Glu) rs772473192 0.00004
NM_003190.5(TAPBP):c.928C>T (p.Pro310Ser) rs750393786 0.00004
NM_000593.6(TAP1):c.1203C>G (p.Asn401Lys) rs756823000 0.00003
NM_000593.6(TAP1):c.605T>G (p.Met202Arg) rs371791126 0.00003
NM_001290043.2(TAP2):c.1202A>G (p.Asp401Gly) rs756805544 0.00003
NM_001290043.2(TAP2):c.1255G>A (p.Val419Met) rs374339816 0.00003
NM_001290043.2(TAP2):c.1272+6C>T rs773119824 0.00003
NM_001290043.2(TAP2):c.1373C>T (p.Thr458Met) rs200271380 0.00003
NM_001290043.2(TAP2):c.1496C>T (p.Thr499Met) rs146801469 0.00003
NM_001290043.2(TAP2):c.1714G>A (p.Glu572Lys) rs370090254 0.00003
NM_001290043.2(TAP2):c.1909C>A (p.Leu637Ile) rs752068310 0.00003
NM_001290043.2(TAP2):c.449C>T (p.Pro150Leu) rs751087452 0.00003
NM_001290043.2(TAP2):c.529A>T (p.Ile177Phe) rs761121102 0.00003
NM_001290043.2(TAP2):c.68T>C (p.Leu23Pro) rs56071805 0.00003
NM_003190.5(TAPBP):c.1049C>T (p.Ser350Leu) rs374308480 0.00003
NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr) rs375664511 0.00003
NM_003190.5(TAPBP):c.1297G>A (p.Ala433Thr) rs765383234 0.00003
NM_003190.5(TAPBP):c.203T>C (p.Val68Ala) rs759240284 0.00003
NM_003190.5(TAPBP):c.464C>G (p.Ala155Gly) rs747106102 0.00003
NM_003190.5(TAPBP):c.568G>A (p.Glu190Lys) rs544121607 0.00003
NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys) rs370619502 0.00003
NC_000006.12:g.32853744G>A rs773285146 0.00002
NM_000593.6(TAP1):c.1069C>T (p.Arg357Trp) rs777930194 0.00002
NM_000593.6(TAP1):c.1457C>T (p.Pro486Leu) rs1198262227 0.00002
NM_000593.6(TAP1):c.1519G>A (p.Asp507Asn) rs200865723 0.00002
NM_000593.6(TAP1):c.1772T>C (p.Phe591Ser) rs994202939 0.00002
NM_000593.6(TAP1):c.2017C>A (p.Leu673Met) rs752253839 0.00002
NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp) rs747716612 0.00002
NM_000593.6(TAP1):c.2155G>A (p.Ala719Thr) rs771945026 0.00002
NM_000593.6(TAP1):c.410C>G (p.Pro137Arg) rs1010241068 0.00002
NM_000593.6(TAP1):c.479_481del (p.Leu160_Trp161delinsArg) rs757882774 0.00002
NM_000593.6(TAP1):c.740G>A (p.Gly247Glu) rs766402718 0.00002
NM_000593.6(TAP1):c.952G>A (p.Gly318Arg) rs781031767 0.00002
NM_001290043.2(TAP2):c.100G>A (p.Gly34Arg) rs145218757 0.00002
NM_001290043.2(TAP2):c.1171A>T (p.Met391Leu) rs140330266 0.00002
NM_001290043.2(TAP2):c.1297A>G (p.Met433Val) rs767342050 0.00002
NM_001290043.2(TAP2):c.1781A>G (p.His594Arg) rs371245242 0.00002
NM_001290043.2(TAP2):c.1961G>A (p.Arg654His) rs753126540 0.00002
NM_001290043.2(TAP2):c.359G>T (p.Ser120Ile) rs932756573 0.00002
NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp) rs536291251 0.00002
NM_001290043.2(TAP2):c.956G>A (p.Arg319Gln) rs1453357528 0.00002
NM_003190.5(TAPBP):c.1057C>T (p.Arg353Cys) rs529085934 0.00002
NM_003190.5(TAPBP):c.185C>T (p.Pro62Leu) rs758158568 0.00002
NM_003190.5(TAPBP):c.189G>C (p.Glu63Asp) rs752556005 0.00002
NM_003190.5(TAPBP):c.932C>T (p.Pro311Leu) rs767486136 0.00002
NC_000006.12:g.32853713C>A rs777221320 0.00001
NC_000006.12:g.32853755G>A rs1001073856 0.00001
NC_000006.12:g.32853758G>A rs868484039 0.00001
NM_000593.6(TAP1):c.-53G>C rs754168270 0.00001
NM_000593.6(TAP1):c.1036G>C (p.Gly346Arg) rs1383698129 0.00001
NM_000593.6(TAP1):c.1045T>C (p.Tyr349His) rs1373729853 0.00001
NM_000593.6(TAP1):c.1108G>T (p.Ala370Ser) rs767281649 0.00001
NM_000593.6(TAP1):c.1156G>A (p.Glu386Lys) rs777683307 0.00001
NM_000593.6(TAP1):c.115G>T (p.Ala39Ser) rs761472739 0.00001
NM_000593.6(TAP1):c.1248T>C (p.Ser416=) rs763494984 0.00001
NM_000593.6(TAP1):c.1507G>T (p.Val503Phe) rs751780479 0.00001
NM_000593.6(TAP1):c.1586G>A (p.Arg529His) rs778935373 0.00001
NM_000593.6(TAP1):c.1712A>G (p.Gln571Arg) rs1045053973 0.00001
NM_000593.6(TAP1):c.1782T>G (p.Ser594Arg) rs368026868 0.00001
NM_000593.6(TAP1):c.1937G>C (p.Gly646Ala) rs765527607 0.00001
NM_000593.6(TAP1):c.1955C>T (p.Ala652Val) rs1458831913 0.00001
NM_000593.6(TAP1):c.1964G>A (p.Arg655Gln) rs769612391 0.00001
NM_000593.6(TAP1):c.1984T>C (p.Cys662Arg) rs1263624622 0.00001
NM_000593.6(TAP1):c.2077T>A (p.Ser693Thr) rs192960052 0.00001
NM_000593.6(TAP1):c.2080C>T (p.Arg694Cys) rs563899405 0.00001
NM_000593.6(TAP1):c.2131C>G (p.His711Asp) rs752812686 0.00001
NM_000593.6(TAP1):c.214G>A (p.Ala72Thr) rs1266560493 0.00001
NM_000593.6(TAP1):c.2224G>C (p.Ala742Pro) rs746330769 0.00001
NM_000593.6(TAP1):c.324G>A (p.Pro108=) rs779064547 0.00001
NM_000593.6(TAP1):c.326G>C (p.Gly109Ala) rs1227126352 0.00001
NM_000593.6(TAP1):c.386G>A (p.Arg129Lys) rs777326504 0.00001
NM_000593.6(TAP1):c.406C>A (p.His136Asn) rs1183972057 0.00001
NM_000593.6(TAP1):c.610A>G (p.Ile204Val) rs1270686101 0.00001
NM_000593.6(TAP1):c.611T>G (p.Ile204Ser) rs1229649183 0.00001
NM_000593.6(TAP1):c.766G>A (p.Val256Met) rs531615408 0.00001
NM_000593.6(TAP1):c.844+4T>C rs1382854110 0.00001
NM_000593.6(TAP1):c.854T>C (p.Met285Thr) rs1396910813 0.00001
NM_000593.6(TAP1):c.935G>A (p.Arg312Gln) rs1226281975 0.00001
NM_000593.6(TAP1):c.977C>A (p.Ser326Tyr) rs779346609 0.00001
NM_001290043.2(TAP2):c.*38G>A rs1322624685 0.00001
NM_001290043.2(TAP2):c.101G>A (p.Gly34Glu) rs759264510 0.00001
NM_001290043.2(TAP2):c.1024G>A (p.Val342Ile) rs752560617 0.00001
NM_001290043.2(TAP2):c.1082A>G (p.Gln361Arg) rs1438157532 0.00001
NM_001290043.2(TAP2):c.1371C>T (p.Gly457=) rs1278278715 0.00001
NM_001290043.2(TAP2):c.1438C>T (p.Arg480Cys) rs776413811 0.00001
NM_001290043.2(TAP2):c.1498G>A (p.Ala500Thr) rs777959391 0.00001
NM_001290043.2(TAP2):c.1597C>A (p.Pro533Thr) rs1459502678 0.00001
NM_001290043.2(TAP2):c.1672G>A (p.Gly558Ser) rs759127287 0.00001
NM_001290043.2(TAP2):c.1690A>C (p.Ile564Leu) rs766885222 0.00001
NM_001290043.2(TAP2):c.1840C>T (p.Arg614Cys) rs972577711 0.00001
NM_001290043.2(TAP2):c.1841G>A (p.Arg614His) rs770111657 0.00001
NM_001290043.2(TAP2):c.1930G>A (p.Ala644Thr) rs759776082 0.00001
NM_001290043.2(TAP2):c.1A>C (p.Met1Leu) rs775391251 0.00001
NM_001290043.2(TAP2):c.2005G>A (p.Ala669Thr) rs773291187 0.00001
NM_001290043.2(TAP2):c.2053C>T (p.Gln685Ter) rs1379914598 0.00001
NM_001290043.2(TAP2):c.257C>T (p.Ala86Val) rs950956694 0.00001
NM_001290043.2(TAP2):c.29C>G (p.Thr10Ser) rs770278478 0.00001
NM_001290043.2(TAP2):c.331C>T (p.Leu111Phe) rs761364876 0.00001
NM_001290043.2(TAP2):c.513C>G (p.His171Gln) rs1270127514 0.00001
NM_001290043.2(TAP2):c.52G>T (p.Ala18Ser) rs142474137 0.00001
NM_001290043.2(TAP2):c.656C>T (p.Ser219Phe) rs1554235670 0.00001
NM_001290043.2(TAP2):c.661A>G (p.Ile221Val) rs764363057 0.00001
NM_001290043.2(TAP2):c.665A>G (p.Asn222Ser) rs1252311955 0.00001
NM_001290043.2(TAP2):c.764C>T (p.Ser255Leu) rs781597165 0.00001
NM_001290043.2(TAP2):c.778A>G (p.Met260Val) rs374491118 0.00001
NM_001290043.2(TAP2):c.806A>G (p.Asn269Ser) rs572376231 0.00001
NM_001290043.2(TAP2):c.818G>A (p.Arg273Gln) rs1582584858 0.00001
NM_001290043.2(TAP2):c.848G>C (p.Gly283Ala) rs1278521116 0.00001
NM_001290043.2(TAP2):c.883C>G (p.Leu295Val) rs1562335145 0.00001
NM_001290043.2(TAP2):c.917C>T (p.Ala306Val) rs144176825 0.00001
NM_001290043.2(TAP2):c.946-10T>A rs1416072299 0.00001
NM_001290043.2(TAP2):c.955C>T (p.Arg319Trp) rs771425114 0.00001
NM_001290043.2(TAP2):c.997C>T (p.Arg333Trp) rs1322324230 0.00001
NM_003190.5(TAPBP):c.1001G>A (p.Gly334Asp) rs1022611517 0.00001
NM_003190.5(TAPBP):c.1046T>C (p.Leu349Pro) rs1006835992 0.00001
NM_003190.5(TAPBP):c.1081A>C (p.Ser361Arg) rs1281620948 0.00001
NM_003190.5(TAPBP):c.1175C>T (p.Ser392Leu) rs576739119 0.00001
NM_003190.5(TAPBP):c.1211-6T>A rs188271218 0.00001
NM_003190.5(TAPBP):c.205C>T (p.His69Tyr) rs775934762 0.00001
NM_003190.5(TAPBP):c.269A>G (p.His90Arg) rs772919424 0.00001
NM_003190.5(TAPBP):c.344G>C (p.Cys115Ser) rs754776791 0.00001
NM_003190.5(TAPBP):c.449T>A (p.Val150Asp) rs1042952067 0.00001
NM_003190.5(TAPBP):c.601C>T (p.Pro201Ser) rs776580678 0.00001
NM_003190.5(TAPBP):c.622C>T (p.Arg208Cys) rs746670734 0.00001
NM_003190.5(TAPBP):c.667G>C (p.Gly223Arg) rs756314269 0.00001
NM_003190.5(TAPBP):c.712T>C (p.Phe238Leu) rs1294107191 0.00001
NM_003190.5(TAPBP):c.758A>G (p.Asn253Ser) rs538568209 0.00001
NM_003190.5(TAPBP):c.799G>A (p.Gly267Ser) rs1248082629 0.00001
NM_003190.5(TAPBP):c.7T>A (p.Ser3Thr) rs553927768 0.00001
NM_003190.5(TAPBP):c.81T>A (p.Cys27Ter) rs754987188 0.00001
NM_003190.5(TAPBP):c.907C>T (p.Arg303Trp) rs747417254 0.00001
NM_003190.5(TAPBP):c.908G>A (p.Arg303Gln) rs185298453 0.00001
NC_000006.11:g.(?_32802911)_(32808844_?)dup
NC_000006.11:g.(?_33131455)_(33388128_?)dup
NC_000006.11:g.(?_33269517)_(33269568_?)del
NC_000006.11:g.(?_33276773)_(33281550_?)del
NC_000006.12:g.32853714C>A rs746658627
NC_000006.12:g.32853717C>G rs979626928
NC_000006.12:g.32853722C>G
NC_000006.12:g.32853744G>T
NC_000006.12:g.32853752G>A
NC_000006.12:g.32853783A>C rs765553023
NC_000006.12:g.32853785G>A rs1408055208
NM_000593.6(TAP1):c.-20G>C rs113585939
NM_000593.6(TAP1):c.1095G>C (p.Gln365His)
NM_000593.6(TAP1):c.109C>T (p.Arg37Trp) rs923642035
NM_000593.6(TAP1):c.1109C>A (p.Ala370Asp) rs2127679
NM_000593.6(TAP1):c.1120A>T (p.Met374Leu) rs779844691
NM_000593.6(TAP1):c.1136G>C (p.Ser379Thr)
NM_000593.6(TAP1):c.1186G>A (p.Glu396Lys)
NM_000593.6(TAP1):c.1207_1209del (p.Lys403del) rs2127390231
NM_000593.6(TAP1):c.1250T>C (p.Ile417Thr)
NM_000593.6(TAP1):c.1255G>A (p.Gly419Ser) rs2228110
NM_000593.6(TAP1):c.1319G>C (p.Ser440Thr)
NM_000593.6(TAP1):c.1377+5G>C rs746757726
NM_000593.6(TAP1):c.1414G>A (p.Val472Met)
NM_000593.6(TAP1):c.1451G>A (p.Arg484His) rs376553490
NM_000593.6(TAP1):c.1460G>A (p.Arg487His)
NM_000593.6(TAP1):c.1535A>G (p.Tyr512Cys)
NM_000593.6(TAP1):c.1543C>T (p.Arg515Cys)
NM_000593.6(TAP1):c.1556T>C (p.Leu519Ser) rs1770595507
NM_000593.6(TAP1):c.1566+5A>G
NM_000593.6(TAP1):c.1567G>A (p.Gly523Arg)
NM_000593.6(TAP1):c.1580C>T (p.Thr527Ile)
NM_000593.6(TAP1):c.1582C>G (p.Leu528Val) rs1179882145
NM_000593.6(TAP1):c.1597G>C (p.Val533Leu)
NM_000593.6(TAP1):c.1616C>A (p.Pro539His) rs1770549743
NM_000593.6(TAP1):c.1676G>T (p.Gly559Val) rs2127387590
NM_000593.6(TAP1):c.1713A>G (p.Gln571=) rs758374418
NM_000593.6(TAP1):c.1722C>A (p.His574Gln) rs1770538961
NM_000593.6(TAP1):c.1727A>G (p.Tyr576Cys)
NM_000593.6(TAP1):c.1753G>A (p.Gly585Arg)
NM_000593.6(TAP1):c.1825A>G (p.Met609Val) rs765958228
NM_000593.6(TAP1):c.1838C>T (p.Thr613Ile) rs1770512743
NM_000593.6(TAP1):c.1852A>G (p.Lys618Glu) rs2127387053
NM_000593.6(TAP1):c.1903+4C>A rs781107294
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp) rs765527607
NM_000593.6(TAP1):c.1937G>T (p.Gly646Val) rs765527607
NM_000593.6(TAP1):c.1975C>T (p.Arg659Trp)
NM_000593.6(TAP1):c.1981C>T (p.Pro661Ser) rs2127386434
NM_000593.6(TAP1):c.2047C>A (p.Gln683Lys) rs1770340996
NM_000593.6(TAP1):c.2047C>T (p.Gln683Ter) rs1770340996
NM_000593.6(TAP1):c.2062A>G (p.Ser688Gly) rs2127384196
NM_000593.6(TAP1):c.2066C>T (p.Pro689Leu)
NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro) rs200753447
NM_000593.6(TAP1):c.2095A>G (p.Ile699Val)
NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg) rs1770326102
NM_000593.6(TAP1):c.2167G>C (p.Gly723Arg) rs768348425
NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp) rs768348425
NM_000593.6(TAP1):c.217T>G (p.Cys73Gly)
NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)
NM_000593.6(TAP1):c.2219T>C (p.Val740Ala) rs1554242514
NM_000593.6(TAP1):c.242G>T (p.Gly81Val)
NM_000593.6(TAP1):c.26C>A (p.Pro9His) rs2127394251
NM_000593.6(TAP1):c.283G>A (p.Ala95Thr) rs2127393913
NM_000593.6(TAP1):c.298G>T (p.Ala100Ser)
NM_000593.6(TAP1):c.310G>T (p.Gly104Cys) rs1482604401
NM_000593.6(TAP1):c.316_336dup (p.Ala106_Leu112dup) rs1311169361
NM_000593.6(TAP1):c.364C>G (p.Pro122Ala)
NM_000593.6(TAP1):c.394C>A (p.His132Asn) rs747398174
NM_000593.6(TAP1):c.471C>A (p.Leu157=) rs1770904472
NM_000593.6(TAP1):c.490G>A (p.Gly164Ser)
NM_000593.6(TAP1):c.508G>A (p.Gly170Arg)
NM_000593.6(TAP1):c.532G>A (p.Gly178Ser)
NM_000593.6(TAP1):c.544T>C (p.Ser182Pro)
NM_000593.6(TAP1):c.554G>C (p.Arg185Pro) rs770721925
NM_000593.6(TAP1):c.599G>A (p.Gly200Glu)
NM_000593.6(TAP1):c.612T>G (p.Ile204Met) rs2127392817
NM_000593.6(TAP1):c.664G>C (p.Asp222His)
NM_000593.6(TAP1):c.664G>T (p.Asp222Tyr)
NM_000593.6(TAP1):c.689T>C (p.Leu230Pro) rs1562373816
NM_000593.6(TAP1):c.710C>A (p.Ala237Asp) rs2127392692
NM_000593.6(TAP1):c.739G>T (p.Gly247Trp) rs59328013
NM_000593.6(TAP1):c.757A>G (p.Met253Val)
NM_000593.6(TAP1):c.774C>A (p.Ser258Arg) rs2127392345
NM_000593.6(TAP1):c.805C>G (p.Leu269Val) rs758910263
NM_000593.6(TAP1):c.808C>T (p.Arg270Cys) rs1257301662
NM_000593.6(TAP1):c.845-9A>G rs1770760116
NM_000593.6(TAP1):c.875C>T (p.Thr292Met)
NM_000593.6(TAP1):c.886A>C (p.Ser296Arg)
NM_000593.6(TAP1):c.89T>C (p.Leu30Pro)
NM_000593.6(TAP1):c.952G>T (p.Gly318Trp) rs781031767
NM_000593.6(TAP1):c.955A>C (p.Ile319Leu) rs748668600
NM_000593.6(TAP1):c.959T>A (p.Met320Lys) rs1019200817
NM_001290043.2(TAP2):c.*19T>A
NM_001290043.2(TAP2):c.1006G>A (p.Val336Ile) rs1243600800
NM_001290043.2(TAP2):c.1006G>T (p.Val336Phe) rs1243600800
NM_001290043.2(TAP2):c.1012G>A (p.Gly338Arg) rs1769174417
NM_001290043.2(TAP2):c.1060C>T (p.Arg354Cys)
NM_001290043.2(TAP2):c.1085G>A (p.Cys362Tyr) rs1323190950
NM_001290043.2(TAP2):c.1099T>C (p.Trp367Arg)
NM_001290043.2(TAP2):c.1103G>C (p.Arg368Pro) rs758423176
NM_001290043.2(TAP2):c.1118G>A (p.Arg373His)
NM_001290043.2(TAP2):c.1134C>G (p.Leu378=)
NM_001290043.2(TAP2):c.1135G>T (p.Val379Leu)
NM_001290043.2(TAP2):c.1148T>C (p.Leu383Pro) rs1769146102
NM_001290043.2(TAP2):c.1171A>G (p.Met391Val) rs140330266
NM_001290043.2(TAP2):c.1179C>A (p.Ser393Arg)
NM_001290043.2(TAP2):c.1190A>G (p.Gln397Arg)
NM_001290043.2(TAP2):c.1205G>A (p.Gly402Glu) rs750999800
NM_001290043.2(TAP2):c.1224C>A (p.Ser408Arg) rs1769136561
NM_001290043.2(TAP2):c.1244A>C (p.Tyr415Ser)
NM_001290043.2(TAP2):c.1267G>A (p.Val423Met) rs2127358422
NM_001290043.2(TAP2):c.1292G>C (p.Gly431Ala)
NM_001290043.2(TAP2):c.1309G>A (p.Val437Met)
NM_001290043.2(TAP2):c.1318G>T (p.Ala440Ser) rs1004855025
NM_001290043.2(TAP2):c.1334C>T (p.Ser445Phe) rs769683724
NM_001290043.2(TAP2):c.1339A>G (p.Met447Val) rs1216264090
NM_001290043.2(TAP2):c.1342G>A (p.Asp448Asn) rs745691531
NM_001290043.2(TAP2):c.1346G>A (p.Arg449Gln)
NM_001290043.2(TAP2):c.1354A>G (p.Asn452Asp)
NM_001290043.2(TAP2):c.1370G>T (p.Gly457Val)
NM_001290043.2(TAP2):c.1450C>A (p.Pro484Thr) rs1769007598
NM_001290043.2(TAP2):c.1511C>A (p.Pro504His) rs2127354979
NM_001290043.2(TAP2):c.158T>C (p.Leu53Pro) rs1769551001
NM_001290043.2(TAP2):c.1598C>A (p.Pro533His) rs1768977361
NM_001290043.2(TAP2):c.159_176dup (p.Lys54_Leu59dup) rs1769548502
NM_001290043.2(TAP2):c.162G>T (p.Lys54Asn)
NM_001290043.2(TAP2):c.1636-12C>T
NM_001290043.2(TAP2):c.166A>G (p.Arg56Gly)
NM_001290043.2(TAP2):c.1694C>G (p.Ala565Gly) rs560100282
NM_001290043.2(TAP2):c.1720G>A (p.Asp574Asn) rs1437226579
NM_001290043.2(TAP2):c.1721A>G (p.Asp574Gly) rs899328471
NM_001290043.2(TAP2):c.1735G>A (p.Ala579Thr)
NM_001290043.2(TAP2):c.1746_1754dup (p.Ala583_Ala585dup) rs1562325678
NM_001290043.2(TAP2):c.1753G>A (p.Ala585Thr) rs753393321
NM_001290043.2(TAP2):c.1786A>G (p.Ile596Val)
NM_001290043.2(TAP2):c.1793C>A (p.Thr598Lys) rs1457217176
NM_001290043.2(TAP2):c.1796A>T (p.Asp599Val)
NM_001290043.2(TAP2):c.179G>T (p.Gly60Val)
NM_001290043.2(TAP2):c.1843C>G (p.Leu615Val) rs1768904881
NM_001290043.2(TAP2):c.1852G>T (p.Ala618Ser) rs1582565271
NM_001290043.2(TAP2):c.1877G>A (p.Arg626Gln)
NM_001290043.2(TAP2):c.1923C>G (p.Cys641Trp)
NM_001290043.2(TAP2):c.1924G>A (p.Glu642Lys)
NM_001290043.2(TAP2):c.1924G>T (p.Glu642Ter) rs765581144
NM_001290043.2(TAP2):c.1931C>T (p.Ala644Val) rs1768892875
NM_001290043.2(TAP2):c.1932+1G>A rs112198951
NM_001290043.2(TAP2):c.1933-6_1933-3del rs765798343
NM_001290043.2(TAP2):c.1952G>T (p.Arg651Leu) rs183316663
NM_001290043.2(TAP2):c.1982A>G (p.His661Arg) rs2127351924
NM_001290043.2(TAP2):c.1999C>T (p.Gln667Ter) rs1768852253
NM_001290043.2(TAP2):c.1A>G (p.Met1Val) rs775391251
NM_001290043.2(TAP2):c.206T>A (p.Leu69His) rs1243711584
NM_001290043.2(TAP2):c.247G>C (p.Val83Leu) rs2127367812
NM_001290043.2(TAP2):c.256G>C (p.Ala86Pro)
NM_001290043.2(TAP2):c.263G>T (p.Arg88Leu) rs1283482331
NM_001290043.2(TAP2):c.27G>C (p.Trp9Cys) rs2127368511
NM_001290043.2(TAP2):c.314G>A (p.Gly105Glu) rs2127367618
NM_001290043.2(TAP2):c.320G>C (p.Gly107Ala)
NM_001290043.2(TAP2):c.37C>G (p.Leu13Val) rs2127368475
NM_001290043.2(TAP2):c.385C>A (p.Gln129Lys)
NM_001290043.2(TAP2):c.424C>A (p.Leu142Met) rs372760767
NM_001290043.2(TAP2):c.445C>G (p.Leu149Val)
NM_001290043.2(TAP2):c.460G>T (p.Ala154Ser) rs1562339896
NM_001290043.2(TAP2):c.494G>A (p.Gly165Asp) rs1769504477
NM_001290043.2(TAP2):c.50C>T (p.Ala17Val)
NM_001290043.2(TAP2):c.524G>A (p.Arg175His) rs1769502410
NM_001290043.2(TAP2):c.526G>A (p.Val176Met)
NM_001290043.2(TAP2):c.561T>G (p.His187Gln) rs2127366964
NM_001290043.2(TAP2):c.580T>G (p.Phe194Val) rs1769497083
NM_001290043.2(TAP2):c.5G>A (p.Arg2Gln) rs1198620573
NM_001290043.2(TAP2):c.606C>T (p.Gly202=) rs2127366882
NM_001290043.2(TAP2):c.609-7C>G
NM_001290043.2(TAP2):c.620C>T (p.Ala207Val)
NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)
NM_001290043.2(TAP2):c.670C>T (p.Arg224Trp)
NM_001290043.2(TAP2):c.67C>T (p.Leu23Phe) rs756204249
NM_001290043.2(TAP2):c.704G>A (p.Arg235His) rs148976382
NM_001290043.2(TAP2):c.715G>A (p.Gly239Ser) rs779665536
NM_001290043.2(TAP2):c.727G>A (p.Glu243Lys) rs1473544417
NM_001290043.2(TAP2):c.728A>G (p.Glu243Gly)
NM_001290043.2(TAP2):c.730A>G (p.Thr244Ala)
NM_001290043.2(TAP2):c.736A>G (p.Thr246Ala)
NM_001290043.2(TAP2):c.754C>T (p.Arg252Trp)
NM_001290043.2(TAP2):c.773C>T (p.Thr258Ile)
NM_001290043.2(TAP2):c.802G>T (p.Ala268Ser) rs1769343979
NM_001290043.2(TAP2):c.812T>C (p.Leu271Pro) rs2127363302
NM_001290043.2(TAP2):c.82G>A (p.Gly28Arg)
NM_001290043.2(TAP2):c.866C>T (p.Ser289Leu)
NM_001290043.2(TAP2):c.880C>G (p.Leu294Val)
NM_001290043.2(TAP2):c.887C>T (p.Ser296Phe) rs1769335343
NM_001290043.2(TAP2):c.912A>G (p.Ile304Met)
NM_001290043.2(TAP2):c.926T>C (p.Val309Ala) rs2127363038
NM_001290043.2(TAP2):c.945+10C>T
NM_001290043.2(TAP2):c.946-5T>C
NM_001290043.2(TAP2):c.970G>T (p.Ala324Ser)
NM_003190.5(TAPBP):c.1013G>A (p.Gly338Asp)
NM_003190.5(TAPBP):c.1016G>A (p.Arg339His)
NM_003190.5(TAPBP):c.1058G>A (p.Arg353His)
NM_003190.5(TAPBP):c.1069G>C (p.Asp357His)
NM_003190.5(TAPBP):c.1102C>G (p.Pro368Ala) rs774631452
NM_003190.5(TAPBP):c.1105C>T (p.Pro369Ser) rs1007511471
NM_003190.5(TAPBP):c.1135C>G (p.Arg379Gly) rs145933787
NM_003190.5(TAPBP):c.1135C>T (p.Arg379Cys)
NM_003190.5(TAPBP):c.113T>G (p.Leu38Arg)
NM_003190.5(TAPBP):c.1148G>A (p.Arg383Gln)
NM_003190.5(TAPBP):c.1172C>G (p.Ala391Gly)
NM_003190.5(TAPBP):c.1172C>T (p.Ala391Val)
NM_003190.5(TAPBP):c.1180C>T (p.Arg394Cys) rs545499119
NM_003190.5(TAPBP):c.1181G>A (p.Arg394His) rs763198738
NM_003190.5(TAPBP):c.1183A>C (p.Ser395Arg)
NM_003190.5(TAPBP):c.1210G>A (p.Gly404Ser)
NM_003190.5(TAPBP):c.1214T>A (p.Leu405His) rs1768785371
NM_003190.5(TAPBP):c.1258G>A (p.Ala420Thr) rs1382572674
NM_003190.5(TAPBP):c.125C>T (p.Pro42Leu)
NM_003190.5(TAPBP):c.1268T>C (p.Leu423Pro) rs1768780166
NM_003190.5(TAPBP):c.1279T>C (p.Phe427Leu)
NM_003190.5(TAPBP):c.128G>A (p.Gly43Asp) rs2150975942
NM_003190.5(TAPBP):c.128_180delinsCCGGACCTCGACCCTGAGGTGGATA (p.Gly43_Leu60delinsAlaGlyProArgProTer)
NM_003190.5(TAPBP):c.1292G>C (p.Gly431Ala)
NM_003190.5(TAPBP):c.1300+3_1300+6del rs770150271
NM_003190.5(TAPBP):c.130_470-3608del
NM_003190.5(TAPBP):c.143G>T (p.Arg48Leu) rs145263363
NM_003190.5(TAPBP):c.149G>A (p.Gly50Glu)
NM_003190.5(TAPBP):c.14C>T (p.Ser5Phe)
NM_003190.5(TAPBP):c.157G>A (p.Glu53Lys)
NM_003190.5(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
NM_003190.5(TAPBP):c.163C>T (p.Pro55Ser)
NM_003190.5(TAPBP):c.166C>T (p.Pro56Ser) rs1035320527
NM_003190.5(TAPBP):c.166_169delinsG (p.Pro56_Arg57delinsGly) rs1004856880
NM_003190.5(TAPBP):c.169C>T (p.Arg57Trp)
NM_003190.5(TAPBP):c.173C>T (p.Pro58Leu)
NM_003190.5(TAPBP):c.176A>C (p.Asp59Ala) rs1769553234
NM_003190.5(TAPBP):c.17T>C (p.Leu6Pro)
NM_003190.5(TAPBP):c.184C>G (p.Pro62Ala)
NM_003190.5(TAPBP):c.18_19delinsTT (p.Leu7Phe) rs2150976796
NM_003190.5(TAPBP):c.195T>G (p.Tyr65Ter)
NM_003190.5(TAPBP):c.209-3C>T
NM_003190.5(TAPBP):c.215C>G (p.Ala72Gly)
NM_003190.5(TAPBP):c.215C>T (p.Ala72Val) rs2150975029
NM_003190.5(TAPBP):c.241C>T (p.Arg81Trp)
NM_003190.5(TAPBP):c.245A>G (p.Tyr82Cys) rs1234932432
NM_003190.5(TAPBP):c.251G>A (p.Arg84Gln) rs1302409592
NM_003190.5(TAPBP):c.277A>G (p.Met93Val)
NM_003190.5(TAPBP):c.279G>A (p.Met93Ile)
NM_003190.5(TAPBP):c.287T>C (p.Phe96Ser)
NM_003190.5(TAPBP):c.289G>C (p.Val97Leu) rs1487703229
NM_003190.5(TAPBP):c.312del (p.Lys104fs) rs771157811
NM_003190.5(TAPBP):c.328A>T (p.Thr110Ser) rs2150974653
NM_003190.5(TAPBP):c.342C>G (p.Asn114Lys) rs778522290
NM_003190.5(TAPBP):c.359A>G (p.Asp120Gly)
NM_003190.5(TAPBP):c.369G>A (p.Trp123Ter) rs1554279286
NM_003190.5(TAPBP):c.37+1G>A
NM_003190.5(TAPBP):c.373A>G (p.Met125Val) rs1260365536
NM_003190.5(TAPBP):c.375G>A (p.Met125Ile)
NM_003190.5(TAPBP):c.376G>A (p.Val126Ile)
NM_003190.5(TAPBP):c.379A>C (p.Ser127Arg) rs371858019
NM_003190.5(TAPBP):c.389G>T (p.Ser130Ile)
NM_003190.5(TAPBP):c.3G>T (p.Met1Ile)
NM_003190.5(TAPBP):c.409A>G (p.Ser137Gly)
NM_003190.5(TAPBP):c.422C>G (p.Pro141Arg)
NM_003190.5(TAPBP):c.457A>C (p.Thr153Pro)
NM_003190.5(TAPBP):c.481G>A (p.Val161Ile)
NM_003190.5(TAPBP):c.494C>G (p.Thr165Ser)
NM_003190.5(TAPBP):c.499G>A (p.Ala167Thr)
NM_003190.5(TAPBP):c.505C>T (p.Arg169Ter)
NM_003190.5(TAPBP):c.506G>T (p.Arg169Leu) rs768577222
NM_003190.5(TAPBP):c.532C>A (p.Leu178Met) rs2150962294
NM_003190.5(TAPBP):c.550T>C (p.Tyr184His)
NM_003190.5(TAPBP):c.561dup (p.Thr188fs) rs748799310
NM_003190.5(TAPBP):c.562A>G (p.Thr188Ala) rs561629511
NM_003190.5(TAPBP):c.569_591del (p.Glu190fs)
NM_003190.5(TAPBP):c.571G>A (p.Ala191Thr) rs1768904241
NM_003190.5(TAPBP):c.593G>A (p.Gly198Asp)
NM_003190.5(TAPBP):c.596C>T (p.Pro199Leu)
NM_003190.5(TAPBP):c.59C>T (p.Ala20Val)
NM_003190.5(TAPBP):c.620G>A (p.Arg207Gln)
NM_003190.5(TAPBP):c.655del (p.Ala219fs)
NM_003190.5(TAPBP):c.68C>T (p.Ala23Val) rs1769577639
NM_003190.5(TAPBP):c.698A>C (p.Glu233Ala)
NM_003190.5(TAPBP):c.706G>A (p.Val236Met)
NM_003190.5(TAPBP):c.719C>T (p.Ala240Val)
NM_003190.5(TAPBP):c.71T>C (p.Val24Ala) rs2150976134
NM_003190.5(TAPBP):c.726TGA[2] (p.Asp244del) rs1458653846
NM_003190.5(TAPBP):c.73A>G (p.Ile25Val)
NM_003190.5(TAPBP):c.748T>C (p.Trp250Arg)
NM_003190.5(TAPBP):c.763_773dup (p.Thr260fs) rs2150961648
NM_003190.5(TAPBP):c.776C>T (p.Pro259Leu)
NM_003190.5(TAPBP):c.778_779delinsGG (p.Thr260Gly)
NM_003190.5(TAPBP):c.819A>G (p.Ile273Met)
NM_003190.5(TAPBP):c.839G>A (p.Gly280Glu) rs1768871055
NM_003190.5(TAPBP):c.844G>T (p.Val282Phe) rs2150961490
NM_003190.5(TAPBP):c.859G>A (p.Ala287Thr)
NM_003190.5(TAPBP):c.867_868del (p.Tyr289_Lys290delinsTer) rs1301955419
NM_003190.5(TAPBP):c.868+1G>A rs1350625021
NM_003190.5(TAPBP):c.869delA (p.Lys290fs)
NM_003190.5(TAPBP):c.870A>C (p.Lys290Asn)
NM_003190.5(TAPBP):c.872C>A (p.Pro291His) rs1462974353
NM_003190.5(TAPBP):c.934_935delinsTT (p.Glu312Leu) rs2150960747
NM_003190.5(TAPBP):c.935A>G (p.Glu312Gly)
NM_003190.5(TAPBP):c.949G>A (p.Val317Met)
NM_003190.5(TAPBP):c.94del (p.Asp32fs)
NM_003190.5(TAPBP):c.989G>C (p.Trp330Ser)
NM_003190.5(TAPBP):c.98C>G (p.Ala33Gly) rs368154041
NM_003190.5(TAPBP):c.98C>T (p.Ala33Val)

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