ClinVar Miner

List of variants in gene TAP2 studied for MHC class I deficiency

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Gene type:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.*30= rs241449 0.74246
NM_001290043.2(TAP2):c.1993= (p.Thr665=) rs241447 0.74244
NM_001290043.2(TAP2):c.2059= (p.Ter687=) rs241448 0.73216
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756
NM_001290043.2(TAP2):c.*30G>T rs241449 0.25754
NM_001290043.2(TAP2):c.1812A>G (p.Gly604=) rs241441 0.25585
NM_001290043.2(TAP2):c.1932+9C>T rs241442 0.25438
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=) rs2228397 0.24300
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile) rs1800454 0.14502
NM_001290043.2(TAP2):c.1693G>A (p.Ala565Thr) rs2228396 0.09496
NM_001290043.2(TAP2):c.1308C>T (p.Asn436=) rs1042116 0.08275
NM_001290043.2(TAP2):c.1800A>C (p.Val600=) rs2229527 0.06729
NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys) rs4148876 0.05694
NM_001290043.2(TAP2):c.1932+10G>A rs41316548 0.03199
NM_001290043.2(TAP2):c.1161G>A (p.Val387=) rs2856992 0.02108
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_001290043.2(TAP2):c.938G>A (p.Arg313His) rs140654840 0.01474
NM_001290043.2(TAP2):c.1144-5T>C rs148353836 0.01133
NM_001290043.2(TAP2):c.1398G>A (p.Gly466=) rs137982419 0.01133
NM_001290043.2(TAP2):c.1399G>A (p.Val467Ile) rs150253319 0.01133
NM_001290043.2(TAP2):c.1826C>T (p.Ala609Val) rs74770812 0.01035
NM_001290043.2(TAP2):c.1374G>A (p.Thr458=) rs149495208 0.00902
NM_001290043.2(TAP2):c.44T>C (p.Val15Ala) rs55827768 0.00817
NM_001290043.2(TAP2):c.4C>T (p.Arg2Trp) rs61736918 0.00447
NM_001290043.2(TAP2):c.1635+18A>G rs185280611 0.00348
NM_001290043.2(TAP2):c.1273-15A>G rs115303673 0.00274
NM_001290043.2(TAP2):c.1729A>G (p.Met577Val) rs2228391 0.00271
NM_001290043.2(TAP2):c.1755A>G (p.Ala585=) rs79098150 0.00247
NM_001290043.2(TAP2):c.770C>T (p.Thr257Ile) rs138586326 0.00247
NM_001290043.2(TAP2):c.162G>A (p.Lys54=) rs56064400 0.00182
NM_001290043.2(TAP2):c.1878G>A (p.Arg626=) rs141926520 0.00149
NM_001290043.2(TAP2):c.1752C>T (p.His584=) rs144543918 0.00103
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
NM_001290043.2(TAP2):c.970G>A (p.Ala324Thr) rs143726288 0.00076
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_001290043.2(TAP2):c.1920G>A (p.Gln640=) rs145894663 0.00052
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.336C>T (p.Ser112=) rs55765602 0.00027
NM_001290043.2(TAP2):c.1588G>A (p.Asp530Asn) rs140969189 0.00013
NM_001290043.2(TAP2):c.270C>T (p.Pro90=) rs779036241 0.00012
NM_001290043.2(TAP2):c.1272+7G>A rs547573518 0.00011
NM_001290043.2(TAP2):c.937C>T (p.Arg313Cys) rs140532996 0.00011
NM_001290043.2(TAP2):c.945+7G>A rs779147813 0.00010
NM_001290043.2(TAP2):c.1087C>T (p.Arg363Trp) rs573005983 0.00009
NM_001290043.2(TAP2):c.1470G>A (p.Thr490=) rs140488350 0.00009
NM_001290043.2(TAP2):c.157C>G (p.Leu53Val) rs144282514 0.00009
NM_001290043.2(TAP2):c.1932C>T (p.Ala644=) rs200318579 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_001290043.2(TAP2):c.1984A>C (p.Arg662=) rs1376176135 0.00008
NM_001290043.2(TAP2):c.1200G>A (p.Gln400=) rs760531770 0.00007
NM_001290043.2(TAP2):c.1769A>G (p.Gln590Arg) rs762266476 0.00007
NM_001290043.2(TAP2):c.*9G>A rs770581305 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.1461+20A>G rs755548838 0.00006
NM_001290043.2(TAP2):c.1499C>T (p.Ala500Val) rs150217191 0.00006
NM_001290043.2(TAP2):c.1875G>A (p.Pro625=) rs554667350 0.00006
NM_001290043.2(TAP2):c.1884C>G (p.Leu628=) rs749944686 0.00006
NM_001290043.2(TAP2):c.2029G>A (p.Glu677Lys) rs887743515 0.00006
NM_001290043.2(TAP2):c.375G>C (p.Gln125His) rs562176186 0.00006
NM_001290043.2(TAP2):c.400A>G (p.Asn134Asp) rs376051965 0.00006
NM_001290043.2(TAP2):c.771C>T (p.Thr257=) rs372434311 0.00006
NM_001290043.2(TAP2):c.817C>G (p.Arg273Gly) rs61736923 0.00006
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.1119C>T (p.Arg373=) rs373723421 0.00005
NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile) rs765178638 0.00005
NM_001290043.2(TAP2):c.1500G>A (p.Ala500=) rs752742116 0.00005
NM_001290043.2(TAP2):c.1740C>G (p.Ala580=) rs199892841 0.00005
NM_001290043.2(TAP2):c.471C>T (p.Phe157=) rs765646791 0.00005
NM_001290043.2(TAP2):c.1041C>T (p.Ala347=) rs760274197 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.249C>A (p.Val83=) rs771431299 0.00004
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.1345C>T (p.Arg449Ter) rs765335850 0.00003
NM_001290043.2(TAP2):c.1373C>T (p.Thr458Met) rs200271380 0.00003
NM_001290043.2(TAP2):c.1461+17G>A rs747635324 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.1795+8C>T rs374476450 0.00003
NM_001290043.2(TAP2):c.1909C>A (p.Leu637Ile) rs752068310 0.00003
NM_001290043.2(TAP2):c.235C>T (p.Leu79=) rs749689805 0.00003
NM_001290043.2(TAP2):c.449C>T (p.Pro150Leu) rs751087452 0.00003
NM_001290043.2(TAP2):c.68T>C (p.Leu23Pro) rs56071805 0.00003
NM_001290043.2(TAP2):c.100G>A (p.Gly34Arg) rs145218757 0.00002
NM_001290043.2(TAP2):c.1147C>T (p.Leu383=) rs761704456 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.1503G>C (p.Leu501=) rs760602887 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.2004C>T (p.Arg668=) rs761138014 0.00002
NM_001290043.2(TAP2):c.355C>T (p.Leu119=) rs986963647 0.00002
NM_001290043.2(TAP2):c.359G>T (p.Ser120Ile) rs932756573 0.00002
NM_001290043.2(TAP2):c.918G>A (p.Ala306=) rs556799828 0.00002
NM_001290043.2(TAP2):c.956G>A (p.Arg319Gln) rs1453357528 0.00002
NM_001290043.2(TAP2):c.*38G>A rs1322624685 0.00001
NM_001290043.2(TAP2):c.1005C>T (p.Ala335=) rs779246483 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.1101G>A (p.Trp367Ter) rs781370484 0.00001
NM_001290043.2(TAP2):c.1212C>T (p.Leu404=) rs1047109850 0.00001
NM_001290043.2(TAP2):c.1221C>T (p.Gly407=) rs763318837 0.00001
NM_001290043.2(TAP2):c.1272+1G>A rs1222208628 0.00001
NM_001290043.2(TAP2):c.1278G>A (p.Leu426=) rs754216065 0.00001
NM_001290043.2(TAP2):c.1371C>T (p.Gly457=) rs1278278715 0.00001
NM_001290043.2(TAP2):c.1390C>T (p.Leu464=) rs755494717 0.00001
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_001290043.2(TAP2):c.1416C>T (p.Asp472=) rs774370150 0.00001
NM_001290043.2(TAP2):c.1438C>T (p.Arg480Cys) rs776413811 0.00001
NM_001290043.2(TAP2):c.144G>A (p.Gly48=) rs556618855 0.00001
NM_001290043.2(TAP2):c.1497G>A (p.Thr499=) rs1236881546 0.00001
NM_001290043.2(TAP2):c.1498G>A (p.Ala500Thr) rs777959391 0.00001
NM_001290043.2(TAP2):c.1512C>T (p.Pro504=) rs750188023 0.00001
NM_001290043.2(TAP2):c.1587G>A (p.Leu529=) rs752786876 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.1734G>A (p.Ala578=) rs543399235 0.00001
NM_001290043.2(TAP2):c.1827G>A (p.Ala609=) rs764437170 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.1933-11C>T rs1476896537 0.00001
NM_001290043.2(TAP2):c.1947T>C (p.Asn649=) rs942085634 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.2046G>A (p.Lys682=) rs1212296156 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.273A>C (p.Pro91=) rs754928206 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.432C>T (p.Leu144=) rs536822325 0.00001
NM_001290043.2(TAP2):c.493+19T>C rs773430770 0.00001
NM_001290043.2(TAP2):c.52G>T (p.Ala18Ser) rs142474137 0.00001
NM_001290043.2(TAP2):c.740-20A>G rs748888824 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.867G>A (p.Ser289=) rs775338272 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.984G>A (p.Ala328=) rs779202764 0.00001
NM_001290043.2(TAP2):c.996G>T (p.Val332=) rs780131528 0.00001
NM_001290043.2(TAP2):c.997C>T (p.Arg333Trp) rs1322324230 0.00001
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.1014G>A (p.Gly338=)
NM_001290043.2(TAP2):c.1060C>T (p.Arg354Cys)
NM_001290043.2(TAP2):c.1083A>G (p.Gln361=) rs1369405533
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.1143+13A>T
NM_001290043.2(TAP2):c.1143+15T>C
NM_001290043.2(TAP2):c.1143+15T>G
NM_001290043.2(TAP2):c.1143+16G>T
NM_001290043.2(TAP2):c.1143+17G>A
NM_001290043.2(TAP2):c.1144-16_1144-13del rs200922606
NM_001290043.2(TAP2):c.1144-17T>C
NM_001290043.2(TAP2):c.1144-5delinsAC
NM_001290043.2(TAP2):c.1144-6T>A rs9461814
NM_001290043.2(TAP2):c.1144-6T>C rs9461814
NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC rs386699797
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.1174C>T (p.Leu392=)
NM_001290043.2(TAP2):c.1179C>A (p.Ser393Arg)
NM_001290043.2(TAP2):c.1179C>T (p.Ser393=) rs1769141226
NM_001290043.2(TAP2):c.117del (p.Trp39fs)
NM_001290043.2(TAP2):c.1185G>C (p.Gly395=) rs2127358619
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.123G>A (p.Glu41=)
NM_001290043.2(TAP2):c.1244A>C (p.Tyr415Ser)
NM_001290043.2(TAP2):c.1254C>T (p.Ser418=)
NM_001290043.2(TAP2):c.1260del (p.Ser421fs) rs1769133149
NM_001290043.2(TAP2):c.1267G>A (p.Val423Met) rs2127358422
NM_001290043.2(TAP2):c.1272+13C>G
NM_001290043.2(TAP2):c.1272+13C>T
NM_001290043.2(TAP2):c.1272+17G>A
NM_001290043.2(TAP2):c.1290T>C (p.Tyr430=) rs2127356009
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.1374G>C (p.Thr458=)
NM_001290043.2(TAP2):c.1398G>C (p.Gly466=) rs137982419
NM_001290043.2(TAP2):c.1398_1399delinsAA (p.Val467Ile) rs369909014
NM_001290043.2(TAP2):c.1434C>T (p.Pro478=) rs2127355585
NM_001290043.2(TAP2):c.1450C>A (p.Pro484Thr) rs1769007598
NM_001290043.2(TAP2):c.1461+19A>T
NM_001290043.2(TAP2):c.1462-12C>G
NM_001290043.2(TAP2):c.1479A>G (p.Leu493=)
NM_001290043.2(TAP2):c.1511C>A (p.Pro504His) rs2127354979
NM_001290043.2(TAP2):c.1569A>C (p.Thr523=)
NM_001290043.2(TAP2):c.1572G>C (p.Gly524=)
NM_001290043.2(TAP2):c.1575A>C (p.Gly525=)
NM_001290043.2(TAP2):c.1583T>C (p.Leu528Pro)
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.1606C>T (p.Gln536Ter)
NM_001290043.2(TAP2):c.162G>T (p.Lys54Asn)
NM_001290043.2(TAP2):c.1635+1G>C
NM_001290043.2(TAP2):c.1635+20A>T
NM_001290043.2(TAP2):c.1636-12C>T
NM_001290043.2(TAP2):c.1636-19C>T
NM_001290043.2(TAP2):c.1636-1G>A
NM_001290043.2(TAP2):c.1650G>T (p.Gly550=)
NM_001290043.2(TAP2):c.166A>G (p.Arg56Gly)
NM_001290043.2(TAP2):c.1671C>T (p.Ser557=)
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.1725G>A (p.Lys575=)
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.1749C>T (p.Ala583=) rs2127353933
NM_001290043.2(TAP2):c.1753G>A (p.Ala585Thr) rs753393321
NM_001290043.2(TAP2):c.1767C>A (p.Ile589=) rs773755340
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.1837C>T (p.Gln613Ter)
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.1867C>T (p.Arg623Ter)
NM_001290043.2(TAP2):c.1877G>A (p.Arg626Gln)
NM_001290043.2(TAP2):c.1884C>T (p.Leu628=)
NM_001290043.2(TAP2):c.1908C>T (p.Ala636=) rs1582564816
NM_001290043.2(TAP2):c.1923C>G (p.Cys641Trp)
NM_001290043.2(TAP2):c.1923C>T (p.Cys641=)
NM_001290043.2(TAP2):c.1924G>A (p.Glu642Lys)
NM_001290043.2(TAP2):c.1924G>T (p.Glu642Ter) rs765581144
NM_001290043.2(TAP2):c.192A>G (p.Thr64=)
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.1933-6del rs550778027
NM_001290043.2(TAP2):c.1952G>T (p.Arg651Leu) rs183316663
NM_001290043.2(TAP2):c.1962C>T (p.Arg654=)
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.2061G>A (p.Ter687=) rs1445727553
NM_001290043.2(TAP2):c.206T>A (p.Leu69His) rs1243711584
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_001290043.2(TAP2):c.220C>G (p.Pro74Ala) rs1054846360
NM_001290043.2(TAP2):c.222C>A (p.Pro74=) rs2229526
NM_001290043.2(TAP2):c.224del (p.Leu75fs)
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.267T>A (p.Ala89=) rs545542514
NM_001290043.2(TAP2):c.27G>C (p.Trp9Cys) rs2127368511
NM_001290043.2(TAP2):c.309G>T (p.Leu103=)
NM_001290043.2(TAP2):c.314G>A (p.Gly105Glu) rs2127367618
NM_001290043.2(TAP2):c.315G>A (p.Gly105=) rs750160800
NM_001290043.2(TAP2):c.320G>C (p.Gly107Ala)
NM_001290043.2(TAP2):c.373del (p.Gln125fs) rs2127367497
NM_001290043.2(TAP2):c.37C>G (p.Leu13Val) rs2127368475
NM_001290043.2(TAP2):c.385C>A (p.Gln129Lys)
NM_001290043.2(TAP2):c.411G>A (p.Leu137=) rs1769521534
NM_001290043.2(TAP2):c.424C>A (p.Leu142Met) rs372760767
NM_001290043.2(TAP2):c.441G>A (p.Pro147=)
NM_001290043.2(TAP2):c.445C>G (p.Leu149Val)
NM_001290043.2(TAP2):c.459T>A (p.Val153=)
NM_001290043.2(TAP2):c.460G>T (p.Ala154Ser) rs1562339896
NM_001290043.2(TAP2):c.486T>C (p.Ala162=)
NM_001290043.2(TAP2):c.493+14G>A
NM_001290043.2(TAP2):c.493+18G>A
NM_001290043.2(TAP2):c.50C>T (p.Ala17Val)
NM_001290043.2(TAP2):c.51G>A (p.Ala17=) rs755209680
NM_001290043.2(TAP2):c.5G>A (p.Arg2Gln) rs1198620573
NM_001290043.2(TAP2):c.63G>A (p.Trp21Ter)
NM_001290043.2(TAP2):c.67C>T (p.Leu23Phe) rs756204249
NM_001290043.2(TAP2):c.740-17T>G
NM_001290043.2(TAP2):c.740-18C>T
NM_001290043.2(TAP2):c.740-5C>A rs2127363506
NM_001290043.2(TAP2):c.754C>T (p.Arg252Trp)
NM_001290043.2(TAP2):c.765G>A (p.Ser255=)
NM_001290043.2(TAP2):c.773C>T (p.Thr258Ile)
NM_001290043.2(TAP2):c.786C>T (p.Asn262=)
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.814T>C (p.Leu272=)
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
NM_001290043.2(TAP2):c.815del (p.Leu272fs)
NM_001290043.2(TAP2):c.824del (p.Leu275fs) rs2127363263
NM_001290043.2(TAP2):c.82G>A (p.Gly28Arg)
NM_001290043.2(TAP2):c.84G>A (p.Gly28=)
NM_001290043.2(TAP2):c.861C>T (p.Ser287=)
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.909A>C (p.Thr303=)
NM_001290043.2(TAP2):c.912A>G (p.Ile304Met)
NM_001290043.2(TAP2):c.926T>C (p.Val309Ala) rs2127363038
NM_001290043.2(TAP2):c.936C>G (p.Thr312=)
NM_001290043.2(TAP2):c.945+10C>T
NM_001290043.2(TAP2):c.945+7G>T rs779147813
NM_001290043.2(TAP2):c.946-12C>T
NM_001290043.2(TAP2):c.946-5T>C
NM_001290043.2(TAP2):c.958del (p.Glu320fs) rs1562331529
NM_001290043.2(TAP2):c.970G>T (p.Ala324Ser)
NM_001290043.2(TAP2):c.979del (p.Arg327fs)
NM_001290043.2(TAP2):c.983C>G (p.Ala328Gly) rs148663600

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