ClinVar Miner

List of variants studied for MHC class I deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1026
Download table as spreadsheet
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_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_001290043.2(TAP2):c.1636-10T>C rs241436 0.42321
NC_000006.12:g.32854082C>A rs2071480 0.41945
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
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_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
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_000593.6(TAP1):c.-34G>A rs2071536 0.08168
NM_001290043.2(TAP2):c.1800A>C (p.Val600=) rs2229527 0.06729
NM_000593.6(TAP1):c.1372G>T (p.Val458Leu) rs41550019 0.05998
NM_000593.6(TAP1):c.1943G>A (p.Arg648Gln) rs1057149 0.05992
NM_001290043.2(TAP2):c.1951C>T (p.Arg651Cys) rs4148876 0.05694
NM_001290043.2(TAP2):c.739+12A>T rs28724898 0.05022
NM_001290043.2(TAP2):c.608+8G>A rs2071467 0.03652
NM_003190.5(TAPBP):c.972G>A (p.Gly324=) rs61739590 0.03495
NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) rs34132052 0.03488
NM_001290043.2(TAP2):c.1932+10G>A rs41316548 0.03199
NM_000593.6(TAP1):c.423T>C (p.Val141=) rs55702652 0.02994
NM_000593.6(TAP1):c.762C>T (p.Gly254=) rs41549617 0.02937
NM_000593.6(TAP1):c.1983G>A (p.Pro661=) rs41551515 0.02846
NM_000593.6(TAP1):c.1109C>T (p.Ala370Val) rs2127679 0.02831
NM_000593.6(TAP1):c.1552G>A (p.Val518Ile) rs41561219 0.02830
NM_000593.6(TAP1):c.598+17G>T rs55967815 0.02750
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.494-11G>T rs56115039 0.01338
NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) rs144706539 0.01237
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_000593.6(TAP1):c.857C>T (p.Ser286Phe) rs2228111 0.00961
NM_001290043.2(TAP2):c.1374G>A (p.Thr458=) rs149495208 0.00902
NM_001290043.2(TAP2):c.658C>A (p.Arg220=) rs142794316 0.00886
NM_003190.5(TAPBP):c.1301-14A>G rs73741554 0.00881
NM_000593.6(TAP1):c.49G>C (p.Gly17Arg) rs57640466 0.00819
NM_001290043.2(TAP2):c.44T>C (p.Val15Ala) rs55827768 0.00817
NM_000593.6(TAP1):c.730G>T (p.Val244Leu) rs36229525 0.00785
NM_003190.5(TAPBP):c.1210+20C>T rs41266733 0.00718
NM_000593.6(TAP1):c.-20G>A rs113585939 0.00670
NM_001290043.2(TAP2):c.4C>T (p.Arg2Trp) rs61736918 0.00447
NM_003190.5(TAPBP):c.175G>T (p.Asp59Tyr) rs45583737 0.00441
NM_003190.5(TAPBP):c.174G>T (p.Pro58=) rs45501592 0.00377
NM_001290043.2(TAP2):c.1635+18A>G rs185280611 0.00348
NM_000593.6(TAP1):c.1051-3C>T rs56366814 0.00282
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu) rs2228106 0.00282
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_003190.5(TAPBP):c.573C>T (p.Ala191=) rs34349100 0.00226
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_003190.5(TAPBP):c.1234G>A (p.Asp412Asn) rs138516982 0.00200
NM_000593.6(TAP1):c.438G>A (p.Ala146=) rs78410191 0.00190
NM_001290043.2(TAP2):c.162G>A (p.Lys54=) rs56064400 0.00182
NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys) rs74897484 0.00175
NM_001290043.2(TAP2):c.1878G>A (p.Arg626=) rs141926520 0.00149
NM_000593.6(TAP1):c.2041-14A>C rs140017767 0.00145
NM_003190.5(TAPBP):c.623G>A (p.Arg208His) rs138273100 0.00135
NM_000593.6(TAP1):c.392T>C (p.Leu131Pro) rs142907576 0.00128
NM_000593.6(TAP1):c.2076C>T (p.Tyr692=) rs56337036 0.00120
NM_001290043.2(TAP2):c.1752C>T (p.His584=) rs144543918 0.00103
NM_000593.6(TAP1):c.1461C>T (p.Arg487=) rs146075993 0.00102
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
NM_003190.5(TAPBP):c.103G>A (p.Gly35Arg) rs117394742 0.00080
NM_003190.5(TAPBP):c.998G>A (p.Arg333Gln) rs11549919 0.00079
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_003190.5(TAPBP):c.161C>G (p.Pro54Arg) rs139155669 0.00073
NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val) rs78328107 0.00068
NM_003190.5(TAPBP):c.1284G>A (p.Lys428=) rs148137345 0.00067
NM_000593.6(TAP1):c.551C>T (p.Thr184Met) rs143842509 0.00066
NM_000593.6(TAP1):c.328C>G (p.Leu110Val) rs2228108 0.00065
NM_000593.6(TAP1):c.484G>A (p.Val162Met) rs147255912 0.00065
NM_000593.6(TAP1):c.588C>G (p.Leu196=) rs2228109 0.00065
NM_003190.5(TAPBP):c.37+13C>G rs201502591 0.00065
NM_000593.5(TAP1):c.12T>G (p.Leu4=) rs148176741 0.00061
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_001290043.2(TAP2):c.1920G>A (p.Gln640=) rs145894663 0.00052
NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile) rs142455342 0.00047
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_000593.6(TAP1):c.159A>G (p.Pro53=) rs144037908 0.00040
NM_001290043.2(TAP2):c.537C>T (p.Ile179=) rs150583253 0.00039
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_001290043.2(TAP2):c.767A>G (p.Asp256Gly) rs140310179 0.00037
NM_003190.5(TAPBP):c.681G>A (p.Gln227=) rs143453259 0.00036
NM_000593.6(TAP1):c.1593C>T (p.Gly531=) rs144951468 0.00035
NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys) rs1168560265 0.00035
NM_003190.5(TAPBP):c.753C>T (p.Thr251=) rs147684698 0.00033
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_001290043.2(TAP2):c.336C>T (p.Ser112=) rs55765602 0.00027
NM_000593.6(TAP1):c.1594G>A (p.Glu532Lys) rs149812348 0.00025
NM_000593.6(TAP1):c.1903+18C>G rs374080419 0.00024
NM_000593.6(TAP1):c.819G>A (p.Thr273=) rs555493390 0.00024
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_003190.5(TAPBP):c.768C>T (p.Phe256=) rs145473025 0.00020
NM_000593.6(TAP1):c.1050+15T>C rs372875467 0.00019
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_001290043.2(TAP2):c.1655A>G (p.Glu552Gly) rs151064661 0.00019
NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln) rs373810087 0.00018
NC_000006.12:g.32853800G>A rs777274470 0.00017
NM_000593.6(TAP1):c.19C>T (p.Pro7Ser) rs375389015 0.00016
NM_000593.6(TAP1):c.447C>T (p.Pro149=) rs757944776 0.00016
NM_003190.5(TAPBP):c.1029C>T (p.Ala343=) rs375869909 0.00016
NM_003190.5(TAPBP):c.876C>G (p.Pro292=) rs555796568 0.00016
NC_000006.12:g.32853762C>A rs753996695 0.00014
NM_000593.6(TAP1):c.1051-11T>C rs371544893 0.00014
NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn) rs372354865 0.00014
NM_000593.5(TAP1):c.66G>C (p.Ser22=) rs760815768 0.00013
NM_000593.6(TAP1):c.1377+16C>T rs368263473 0.00013
NM_000593.6(TAP1):c.629G>A (p.Arg210His) rs550037204 0.00013
NM_001290043.2(TAP2):c.1588G>A (p.Asp530Asn) rs140969189 0.00013
NM_001290043.2(TAP2):c.270C>T (p.Pro90=) rs779036241 0.00012
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.1272+7G>A rs547573518 0.00011
NM_001290043.2(TAP2):c.937C>T (p.Arg313Cys) rs140532996 0.00011
NM_003190.5(TAPBP):c.1228C>T (p.Leu410Phe) rs200685500 0.00011
NM_000593.6(TAP1):c.1957T>A (p.Leu653Met) rs772090667 0.00010
NM_000593.6(TAP1):c.2041-20G>A rs368776572 0.00010
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_000593.6(TAP1):c.690C>T (p.Leu230=) rs188939246 0.00010
NM_001290043.2(TAP2):c.945+7G>A rs779147813 0.00010
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.1904-14C>T rs550493302 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.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_003190.5(TAPBP):c.1185C>T (p.Ser395=) rs369975343 0.00009
NM_003190.5(TAPBP):c.913G>A (p.Ala305Thr) rs199710908 0.00009
NM_001290043.2(TAP2):c.1984A>C (p.Arg662=) rs1376176135 0.00008
NM_000593.6(TAP1):c.1561C>T (p.Leu521=) rs372643992 0.00007
NM_000593.6(TAP1):c.552G>C (p.Thr184=) rs138368358 0.00007
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_003190.5(TAPBP):c.1069G>A (p.Asp357Asn) rs376210117 0.00007
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp) rs772349873 0.00007
NM_000593.5(TAP1):c.34T>C (p.Cys12Arg) rs765553023 0.00006
NM_000593.5(TAP1):c.99C>T (p.Leu33=) rs866695760 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_000593.6(TAP1):c.4G>A (p.Ala2Thr) rs767256206 0.00006
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.515A>T (p.Tyr172Phe) rs777069495 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_003190.5(TAPBP):c.1026G>A (p.Lys342=) rs201074090 0.00006
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_003190.5(TAPBP):c.705C>T (p.Ala235=) rs146422093 0.00006
NM_003190.5(TAPBP):c.820C>T (p.His274Tyr) rs145571132 0.00006
NM_000593.6(TAP1):c.1155C>T (p.Gly385=) rs139907578 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.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_003190.5(TAPBP):c.172C>T (p.Pro58Ser) rs376978188 0.00005
NM_003190.5(TAPBP):c.213C>T (p.Pro71=) rs777682903 0.00005
NM_003190.5(TAPBP):c.576C>T (p.Ala192=) rs950808132 0.00005
NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu) rs142416547 0.00005
NM_000593.6(TAP1):c.1132C>T (p.Arg378Ter) rs143800384 0.00004
NM_000593.6(TAP1):c.1398C>A (p.Pro466=) rs374008463 0.00004
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter) rs967210854 0.00004
NM_000593.6(TAP1):c.175G>A (p.Ala59Thr) rs45538133 0.00004
NM_000593.6(TAP1):c.1770A>G (p.Val590=) rs571926211 0.00004
NM_000593.6(TAP1):c.1956G>A (p.Ala652=) rs369074610 0.00004
NM_000593.6(TAP1):c.1962C>T (p.Ala654=) rs749236282 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.2154C>T (p.Gly718=) rs748368417 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.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.677G>A (p.Arg226Gln) rs371802164 0.00004
NM_001290043.2(TAP2):c.684G>A (p.Gln228=) rs760549490 0.00004
NM_003190.5(TAPBP):c.1104G>A (p.Pro368=) rs780116309 0.00004
NM_003190.5(TAPBP):c.1128T>C (p.His376=) rs377366674 0.00004
NM_003190.5(TAPBP):c.38-18C>T rs762601324 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.1305C>T (p.Thr435=) rs754417390 0.00003
NM_000593.6(TAP1):c.1354A>G (p.Met452Val) rs768766706 0.00003
NM_000593.6(TAP1):c.605T>G (p.Met202Arg) rs371791126 0.00003
NM_000593.6(TAP1):c.977C>A (p.Ser326Tyr) rs779346609 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.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.529A>T (p.Ile177Phe) rs761121102 0.00003
NM_001290043.2(TAP2):c.68T>C (p.Leu23Pro) rs56071805 0.00003
NM_001290043.2(TAP2):c.739+19G>T rs764261291 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.37+10C>G rs770222534 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.631C>T (p.Leu211=) rs150471656 0.00003
NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys) rs370619502 0.00003
NM_003190.5(TAPBP):c.933G>A (p.Pro311=) rs778870301 0.00003
NC_000006.12:g.32853730A>G rs1329303922 0.00002
NM_000593.5(TAP1):c.73C>T (p.Pro25Ser) 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.1567-17G>A rs1158574362 0.00002
NM_000593.6(TAP1):c.1772T>C (p.Phe591Ser) rs994202939 0.00002
NM_000593.6(TAP1):c.186G>A (p.Leu62=) rs767326847 0.00002
NM_000593.6(TAP1):c.1995C>T (p.Ile665=) rs746615939 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.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.609-19T>C rs778623201 0.00002
NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp) rs536291251 0.00002
NM_001290043.2(TAP2):c.714C>T (p.Leu238=) rs539200475 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_003190.5(TAPBP):c.1057C>T (p.Arg353Cys) rs529085934 0.00002
NM_003190.5(TAPBP):c.1143C>T (p.Ala381=) rs755761081 0.00002
NM_003190.5(TAPBP):c.1203G>A (p.Glu401=) rs981203752 0.00002
NM_003190.5(TAPBP):c.1300+8T>C rs966303595 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.1005del (p.Pro336fs) rs770072323 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.1377+13C>T rs747841675 0.00001
NM_000593.6(TAP1):c.1378-4C>G rs746948561 0.00001
NM_000593.6(TAP1):c.1507G>T (p.Val503Phe) rs751780479 0.00001
NM_000593.6(TAP1):c.1518A>G (p.Gln506=) rs577064548 0.00001
NM_000593.6(TAP1):c.1567-13C>G rs745320898 0.00001
NM_000593.6(TAP1):c.1586G>A (p.Arg529His) rs778935373 0.00001
NM_000593.6(TAP1):c.1602G>A (p.Thr534=) rs530026098 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.1836C>T (p.Ile612=) rs1770512950 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.2041-15G>A rs538476075 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.2121G>A (p.Glu707=) rs764242641 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.2187C>T (p.Leu729=) rs1770319548 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.363C>A (p.Ala121=) rs1275960530 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.426C>T (p.Val142=) rs755094921 0.00001
NM_000593.6(TAP1):c.599-19C>T rs1473925143 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.810C>T (p.Arg270=) rs1401762778 0.00001
NM_000593.6(TAP1):c.844+4T>C rs1382854110 0.00001
NM_000593.6(TAP1):c.845-12C>T rs1207093185 0.00001
NM_000593.6(TAP1):c.854T>C (p.Met285Thr) rs1396910813 0.00001
NM_000593.6(TAP1):c.87T>C (p.Leu29=) rs766171114 0.00001
NM_000593.6(TAP1):c.885G>C (p.Leu295=) rs762913065 0.00001
NM_000593.6(TAP1):c.935G>A (p.Arg312Gln) rs1226281975 0.00001
NM_000593.6(TAP1):c.971C>G (p.Ser324Ter) rs1470217821 0.00001
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.513C>G (p.His171Gln) rs1270127514 0.00001
NM_001290043.2(TAP2):c.52G>T (p.Ala18Ser) rs142474137 0.00001
NM_001290043.2(TAP2):c.576C>T (p.Ala192=) rs370372252 0.00001
NM_001290043.2(TAP2):c.608+15G>T rs772360977 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.739+10G>A rs781718817 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_003190.5(TAPBP):c.1001G>A (p.Gly334Asp) rs1022611517 0.00001
NM_003190.5(TAPBP):c.1014C>T (p.Gly338=) rs749398191 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.21C>T (p.Leu7=) rs768367936 0.00001
NM_003190.5(TAPBP):c.269A>G (p.His90Arg) rs772919424 0.00001
NM_003190.5(TAPBP):c.333C>G (p.Pro111=) rs561857093 0.00001
NM_003190.5(TAPBP):c.342C>T (p.Asn114=) rs778522290 0.00001
NM_003190.5(TAPBP):c.344G>C (p.Cys115Ser) rs754776791 0.00001
NM_003190.5(TAPBP):c.426G>A (p.Gln142=) rs148601579 0.00001
NM_003190.5(TAPBP):c.449T>A (p.Val150Asp) rs1042952067 0.00001
NM_003190.5(TAPBP):c.469+8G>C rs200904092 0.00001
NM_003190.5(TAPBP):c.57A>C (p.Ser19=) rs778294391 0.00001
NM_003190.5(TAPBP):c.585G>A (p.Leu195=) rs554976419 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.869-16C>T rs1479415145 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
NM_003190.5(TAPBP):c.912C>T (p.Ala304=) rs1468182307 0.00001
NM_003190.5(TAPBP):c.948T>C (p.Leu316=) rs763682947 0.00001
NC_000006.11:g.(?_32802911)_(32808844_?)dup
NC_000006.11:g.(?_33269517)_(33269568_?)del
NC_000006.12:g.32853714C>A rs746658627
NC_000006.12:g.32853717C>G rs979626928
NC_000006.12:g.32853783A>C rs765553023
NM_000593.5(TAP1):c.24A>G (p.Ala8=)
NM_000593.5(TAP1):c.30A>C (p.Ser10=)
NM_000593.5(TAP1):c.30A>G (p.Ser10=)
NM_000593.5(TAP1):c.32C>T (p.Ala11Val) rs1408055208
NM_000593.5(TAP1):c.51G>A (p.Pro17=)
NM_000593.5(TAP1):c.57C>T (p.Ala19=)
NM_000593.5(TAP1):c.65C>T (p.Ser22Leu)
NM_000593.5(TAP1):c.6T>C (p.Ala2=)
NM_000593.5(TAP1):c.73C>A (p.Pro25Thr)
NM_000593.5(TAP1):c.81C>T (p.Ala27=)
NM_000593.5(TAP1):c.89dup (p.Gly32Argfs)
NM_000593.5(TAP1):c.95G>C (p.Gly32Ala)
NM_000593.6(TAP1):c.-16C>T
NM_000593.6(TAP1):c.-20G>C rs113585939
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000593.6(TAP1):c.1003C>T (p.Leu335=)
NM_000593.6(TAP1):c.1021C>T (p.Leu341=) rs765013700
NM_000593.6(TAP1):c.1051-7T>C rs2127390443
NM_000593.6(TAP1):c.1054C>T (p.Leu352=) rs2127390421
NM_000593.6(TAP1):c.1092C>T (p.Ser364=)
NM_000593.6(TAP1):c.1095G>C (p.Gln365His)
NM_000593.6(TAP1):c.109C>T (p.Arg37Trp) rs923642035
NM_000593.6(TAP1):c.1101C>A (p.Ala367=) rs2127390366
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.1146C>T (p.Asn382=)
NM_000593.6(TAP1):c.1167G>A (p.Lys389=)
NM_000593.6(TAP1):c.1186G>A (p.Glu396Lys)
NM_000593.6(TAP1):c.1200C>A (p.Leu400=)
NM_000593.6(TAP1):c.1207_1209del (p.Lys403del) rs2127390231
NM_000593.6(TAP1):c.1217_1218del (p.Val406fs)
NM_000593.6(TAP1):c.1248+10T>G
NM_000593.6(TAP1):c.1248+9C>A
NM_000593.6(TAP1):c.1249-5T>G rs2127388921
NM_000593.6(TAP1):c.1250T>C (p.Ile417Thr)
NM_000593.6(TAP1):c.1255G>A (p.Gly419Ser) rs2228110
NM_000593.6(TAP1):c.1255G>T (p.Gly419Cys) rs2228110
NM_000593.6(TAP1):c.1278C>T (p.Ile426=)
NM_000593.6(TAP1):c.1311G>T (p.Gly437=)
NM_000593.6(TAP1):c.1319G>C (p.Ser440Thr)
NM_000593.6(TAP1):c.1365C>T (p.Thr455=)
NM_000593.6(TAP1):c.1374G>T (p.Val458=)
NM_000593.6(TAP1):c.1377+20A>G
NM_000593.6(TAP1):c.1377+5G>C rs746757726
NM_000593.6(TAP1):c.1378-15C>A rs375798418
NM_000593.6(TAP1):c.1378-15C>T
NM_000593.6(TAP1):c.1378-4C>T rs746948561
NM_000593.6(TAP1):c.1386C>T (p.Leu462=)
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.1467A>G (p.Pro489=) rs2127388532
NM_000593.6(TAP1):c.1476T>C (p.Gly492=)
NM_000593.6(TAP1):c.1488C>T (p.Pro496=)
NM_000593.6(TAP1):c.1503C>T (p.Gly501=)
NM_000593.6(TAP1):c.150C>T (p.Thr50=)
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+14C>G rs1388024069
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.1581C>T (p.Thr527=)
NM_000593.6(TAP1):c.1582C>G (p.Leu528Val) rs1179882145
NM_000593.6(TAP1):c.1593C>G (p.Gly531=) rs144951468
NM_000593.6(TAP1):c.1597G>C (p.Val533Leu)
NM_000593.6(TAP1):c.15G>A (p.Arg5=)
NM_000593.6(TAP1):c.160C>T (p.Leu54=)
NM_000593.6(TAP1):c.1616C>A (p.Pro539His) rs1770549743
NM_000593.6(TAP1):c.162G>T (p.Leu54=)
NM_000593.6(TAP1):c.1662G>A (p.Leu554=)
NM_000593.6(TAP1):c.1662G>T (p.Leu554=) rs2127387635
NM_000593.6(TAP1):c.1665C>T (p.Tyr555=)
NM_000593.6(TAP1):c.1674C>T (p.Thr558=) rs377621191
NM_000593.6(TAP1):c.1676G>T (p.Gly559Val) rs2127387590
NM_000593.6(TAP1):c.1689G>T (p.Leu563=) rs2127387561
NM_000593.6(TAP1):c.1699A>T (p.Lys567Ter)
NM_000593.6(TAP1):c.1710C>T (p.Pro570=) rs1770540799
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.1738C>T (p.Gln580Ter)
NM_000593.6(TAP1):c.1740+2T>C
NM_000593.6(TAP1):c.1740+8dup
NM_000593.6(TAP1):c.1741-4T>G
NM_000593.6(TAP1):c.1746T>C (p.Ala582=) rs2127387213
NM_000593.6(TAP1):c.1753G>A (p.Gly585Arg)
NM_000593.6(TAP1):c.1789G>T (p.Glu597Ter)
NM_000593.6(TAP1):c.1800C>T (p.Ala600=)
NM_000593.6(TAP1):c.1812C>T (p.Thr604=) rs1582629223
NM_000593.6(TAP1):c.1813C>T (p.Gln605Ter)
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.1866_1879del (p.His622fs) rs1354641607
NM_000593.6(TAP1):c.1903+12A>G
NM_000593.6(TAP1):c.1903+19del
NM_000593.6(TAP1):c.1903+4C>A rs781107294
NM_000593.6(TAP1):c.1911C>T (p.Asp637=)
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.1938T>C (p.Gly646=)
NM_000593.6(TAP1):c.1968A>T (p.Ala656=) rs745731367
NM_000593.6(TAP1):c.1975C>T (p.Arg659Trp)
NM_000593.6(TAP1):c.1981C>T (p.Pro661Ser) rs2127386434
NM_000593.6(TAP1):c.2040+17C>T rs2127386308
NM_000593.6(TAP1):c.2041-10C>G rs2127384261
NM_000593.6(TAP1):c.2041-13T>C rs528862984
NM_000593.6(TAP1):c.2041-15G>C
NM_000593.6(TAP1):c.2041-16C>T
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>A (p.Arg691Gln) rs200753447
NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro) rs200753447
NM_000593.6(TAP1):c.2094C>T (p.Leu698=) rs1582621927
NM_000593.6(TAP1):c.2095A>G (p.Ile699Val)
NM_000593.6(TAP1):c.2139C>A (p.Leu713=) rs1055956289
NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg) rs1770326102
NM_000593.6(TAP1):c.2145G>T (p.Leu715=)
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.291G>A (p.Lys97=)
NM_000593.6(TAP1):c.294A>G (p.Pro98=)
NM_000593.6(TAP1):c.298G>T (p.Ala100Ser)
NM_000593.6(TAP1):c.30C>T (p.Arg10=)
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.333C>T (p.Ala111=)
NM_000593.6(TAP1):c.335T>A (p.Leu112Ter)
NM_000593.6(TAP1):c.354A>C (p.Ser118=)
NM_000593.6(TAP1):c.354A>T (p.Ser118=)
NM_000593.6(TAP1):c.364C>G (p.Pro122Ala)
NM_000593.6(TAP1):c.369G>A (p.Gly123=) rs760088609
NM_000593.6(TAP1):c.384C>A (p.Thr128=) rs1430637258
NM_000593.6(TAP1):c.387G>A (p.Arg129=)
NM_000593.6(TAP1):c.394C>A (p.His132Asn) rs747398174
NM_000593.6(TAP1):c.408C>T (p.His136=) rs1472631167
NM_000593.6(TAP1):c.447C>G (p.Pro149=)
NM_000593.6(TAP1):c.457C>T (p.Leu153=) rs960438813
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.513C>T (p.Asn171=)
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.558C>T (p.Arg186=)
NM_000593.6(TAP1):c.564G>T (p.Ser188=)
NM_000593.6(TAP1):c.588C>T (p.Leu196=)
NM_000593.6(TAP1):c.598+12G>T rs2127393374
NM_000593.6(TAP1):c.599-11T>C
NM_000593.6(TAP1):c.599-15C>T
NM_000593.6(TAP1):c.599-17C>T
NM_000593.6(TAP1):c.599G>A (p.Gly200Glu)
NM_000593.6(TAP1):c.609C>T (p.Ala203=)
NM_000593.6(TAP1):c.612T>G (p.Ile204Met) rs2127392817
NM_000593.6(TAP1):c.615A>G (p.Pro205=) rs1770850860
NM_000593.6(TAP1):c.639C>T (p.Asp213=) rs2127392786
NM_000593.6(TAP1):c.646C>T (p.Leu216=)
NM_000593.6(TAP1):c.657C>T (p.Gly219=) rs1770847755
NM_000593.6(TAP1):c.663C>G (p.Ala221=) rs2127392755
NM_000593.6(TAP1):c.664G>C (p.Asp222His)
NM_000593.6(TAP1):c.664G>T (p.Asp222Tyr)
NM_000593.6(TAP1):c.676C>T (p.Arg226Ter)
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.713+18G>T
NM_000593.6(TAP1):c.714-11G>T rs1770832505
NM_000593.6(TAP1):c.714-14C>T
NM_000593.6(TAP1):c.714-9del rs2127392508
NM_000593.6(TAP1):c.717A>G (p.Ala239=) rs2127392481
NM_000593.6(TAP1):c.721C>T (p.Leu241=)
NM_000593.6(TAP1):c.738C>T (p.Asp246=)
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.82C>T (p.Leu28=)
NM_000593.6(TAP1):c.844+9T>C
NM_000593.6(TAP1):c.845-9A>G rs1770760116
NM_000593.6(TAP1):c.861G>A (p.Arg287=) rs2127391156
NM_000593.6(TAP1):c.875C>T (p.Thr292Met)
NM_000593.6(TAP1):c.876G>A (p.Thr292=)
NM_000593.6(TAP1):c.879C>T (p.Ser293=)
NM_000593.6(TAP1):c.886A>C (p.Ser296Arg)
NM_000593.6(TAP1):c.89T>C (p.Leu30Pro)
NM_000593.6(TAP1):c.90C>T (p.Leu30=)
NM_000593.6(TAP1):c.934C>T (p.Arg312Ter)
NM_000593.6(TAP1):c.93C>T (p.Ala31=)
NM_000593.6(TAP1):c.942A>G (p.Leu314=)
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_000593.6(TAP1):c.981C>T (p.Leu327=)
NM_000593.6(TAP1):c.990C>T (p.Val330=) rs1468233071
NM_000593.6(TAP1):c.993C>G (p.Thr331=)
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.1144-6T>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.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.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.494-10C>T
NM_001290043.2(TAP2):c.494-13A>G rs757984250
NM_001290043.2(TAP2):c.494-2A>G rs2127367115
NM_001290043.2(TAP2):c.494G>A (p.Gly165Asp) rs1769504477
NM_001290043.2(TAP2):c.50C>T (p.Ala17Val)
NM_001290043.2(TAP2):c.51G>A (p.Ala17=) rs755209680
NM_001290043.2(TAP2):c.524G>A (p.Arg175His) rs1769502410
NM_001290043.2(TAP2):c.526G>A (p.Val176Met)
NM_001290043.2(TAP2):c.552T>C (p.Phe184=)
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.591C>T (p.Cys197=)
NM_001290043.2(TAP2):c.594C>G (p.Leu198=)
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.609-14C>T
NM_001290043.2(TAP2):c.609-16T>C
NM_001290043.2(TAP2):c.609-7C>G
NM_001290043.2(TAP2):c.609-7C>T
NM_001290043.2(TAP2):c.620C>T (p.Ala207Val)
NM_001290043.2(TAP2):c.63G>A (p.Trp21Ter)
NM_001290043.2(TAP2):c.658C>T (p.Arg220Ter)
NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)
NM_001290043.2(TAP2):c.667T>C (p.Leu223=)
NM_001290043.2(TAP2):c.670C>T (p.Arg224Trp)
NM_001290043.2(TAP2):c.672G>T (p.Arg224=) rs776829392
NM_001290043.2(TAP2):c.67C>T (p.Leu23Phe) rs756204249
NM_001290043.2(TAP2):c.687T>G (p.Leu229=)
NM_001290043.2(TAP2):c.690C>T (p.Phe230=)
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.724C>T (p.Gln242Ter)
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.739+18G>C
NM_001290043.2(TAP2):c.739+20T>A
NM_001290043.2(TAP2):c.739+9T>G rs2127363892
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.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.983C>G (p.Ala328Gly) rs148663600
NM_003190.5(TAPBP):c.1013G>A (p.Gly338Asp)
NM_003190.5(TAPBP):c.1016G>A (p.Arg339His)
NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)
NM_003190.5(TAPBP):c.1052C>T (p.Ala351Val)
NM_003190.5(TAPBP):c.1058G>A (p.Arg353His)
NM_003190.5(TAPBP):c.1068C>T (p.Ser356=)
NM_003190.5(TAPBP):c.1069G>C (p.Asp357His)
NM_003190.5(TAPBP):c.108G>A (p.Lys36=)
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.1164C>T (p.Ser388=)
NM_003190.5(TAPBP):c.1170T>C (p.Pro390=)
NM_003190.5(TAPBP):c.1172C>G (p.Ala391Gly)
NM_003190.5(TAPBP):c.1172C>T (p.Ala391Val)
NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)
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.1210+11G>A
NM_003190.5(TAPBP):c.1210+8C>T
NM_003190.5(TAPBP):c.1210G>A (p.Gly404Ser)
NM_003190.5(TAPBP):c.1214T>A (p.Leu405His) rs1768785371
NM_003190.5(TAPBP):c.1227C>T (p.Ser409=)
NM_003190.5(TAPBP):c.1248T>C (p.Leu416=) rs2150959869
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+11G>C
NM_003190.5(TAPBP):c.1300+17C>A
NM_003190.5(TAPBP):c.1300+3_1300+6del rs770150271
NM_003190.5(TAPBP):c.1301-5dup
NM_003190.5(TAPBP):c.1309C>T (p.Leu437=) rs1382973887
NM_003190.5(TAPBP):c.130_470-3608del
NM_003190.5(TAPBP):c.1314C>T (p.Ser438=) rs1768759818
NM_003190.5(TAPBP):c.1336-4C>A rs371464306
NM_003190.5(TAPBP):c.135G>A (p.Leu45=)
NM_003190.5(TAPBP):c.136C>T (p.Leu46=)
NM_003190.5(TAPBP):c.141G>A (p.Leu47=)
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.162G>T (p.Pro54=)
NM_003190.5(TAPBP):c.163C>T (p.Pro55Ser)
NM_003190.5(TAPBP):c.165G>A (p.Pro55=)
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.168C>T (p.Pro56=)
NM_003190.5(TAPBP):c.169C>T (p.Arg57Trp)
NM_003190.5(TAPBP):c.173C>T (p.Pro58Leu)
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.176A>C (p.Asp59Ala) rs1769553234
NM_003190.5(TAPBP):c.177C>T (p.Asp59=) rs1562701808
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.198C>T (p.Leu66=)
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.24C>T (p.Leu8=)
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.282C>T (p.Ser94=)
NM_003190.5(TAPBP):c.287T>C (p.Phe96Ser)
NM_003190.5(TAPBP):c.289G>C (p.Val97Leu) rs1487703229
NM_003190.5(TAPBP):c.300C>T (p.Pro100=) rs2150974759
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.348G>T (p.Pro116=) rs779747861
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+14G>A
NM_003190.5(TAPBP):c.37+16G>T
NM_003190.5(TAPBP):c.37+1G>A
NM_003190.5(TAPBP):c.372G>C (p.Leu124=)
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.38-16C>T
NM_003190.5(TAPBP):c.389G>T (p.Ser130Ile)
NM_003190.5(TAPBP):c.39C>T (p.Gly13=)
NM_003190.5(TAPBP):c.3G>T (p.Met1Ile)
NM_003190.5(TAPBP):c.409A>G (p.Ser137Gly)
NM_003190.5(TAPBP):c.414C>T (p.Leu138=)
NM_003190.5(TAPBP):c.422C>G (p.Pro141Arg)
NM_003190.5(TAPBP):c.457A>C (p.Thr153Pro)
NM_003190.5(TAPBP):c.459C>T (p.Thr153=) rs2150974303
NM_003190.5(TAPBP):c.469+18G>A
NM_003190.5(TAPBP):c.475C>T (p.Leu159=)
NM_003190.5(TAPBP):c.481G>A (p.Val161Ile)
NM_003190.5(TAPBP):c.494C>G (p.Thr165Ser)
NM_003190.5(TAPBP):c.495C>T (p.Thr165=)
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.534G>A (p.Leu178=)
NM_003190.5(TAPBP):c.550T>C (p.Tyr184His)
NM_003190.5(TAPBP):c.558C>A (p.Pro186=)
NM_003190.5(TAPBP):c.561dup (p.Thr188fs) rs748799310
NM_003190.5(TAPBP):c.562A>G (p.Thr188Ala) rs561629511
NM_003190.5(TAPBP):c.567C>A (p.Ser189=) rs369452003
NM_003190.5(TAPBP):c.567C>T (p.Ser189=) rs369452003
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.657T>A (p.Ala219=)
NM_003190.5(TAPBP):c.657T>G (p.Ala219=)
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.747A>T (p.Pro249=) rs2150961711
NM_003190.5(TAPBP):c.748T>C (p.Trp250Arg)
NM_003190.5(TAPBP):c.763_773dup (p.Thr260fs) rs2150961648
NM_003190.5(TAPBP):c.772C>T (p.Leu258=)
NM_003190.5(TAPBP):c.776C>T (p.Pro259Leu)
NM_003190.5(TAPBP):c.778_779delinsGG (p.Thr260Gly)
NM_003190.5(TAPBP):c.804C>T (p.Thr268=)
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.850C>T (p.Leu284=)
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+11G>A
NM_003190.5(TAPBP):c.868+1G>A rs1350625021
NM_003190.5(TAPBP):c.869-12C>T
NM_003190.5(TAPBP):c.869-15G>A
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.946C>T (p.Leu316Phe)
NM_003190.5(TAPBP):c.949G>A (p.Val317Met)
NM_003190.5(TAPBP):c.94del (p.Asp32fs)
NM_003190.5(TAPBP):c.969T>C (p.Ser323=)
NM_003190.5(TAPBP):c.975C>G (p.Gly325=)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.