ClinVar Miner

List of variants in gene TAP1 studied for MHC class I deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.32854082C>A rs2071480 0.41945
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_000593.6(TAP1):c.-34G>A rs2071536 0.08168
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_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_000593.6(TAP1):c.857C>T (p.Ser286Phe) rs2228111 0.00961
NM_000593.6(TAP1):c.49G>C (p.Gly17Arg) rs57640466 0.00819
NM_000593.6(TAP1):c.730G>T (p.Val244Leu) rs36229525 0.00785
NM_000593.6(TAP1):c.-20G>A rs113585939 0.00670
NM_000593.6(TAP1):c.1051-3C>T rs56366814 0.00282
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu) rs2228106 0.00282
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_000593.6(TAP1):c.438G>A (p.Ala146=) rs78410191 0.00190
NM_000593.6(TAP1):c.392T>C (p.Leu131Pro) rs142907576 0.00128
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_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_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_000593.6(TAP1):c.782A>C (p.Gln261Pro) rs143954070 0.00046
NM_000593.6(TAP1):c.159A>G (p.Pro53=) rs144037908 0.00040
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_000593.6(TAP1):c.1593C>T (p.Gly531=) rs144951468 0.00035
NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys) rs1168560265 0.00035
NC_000006.12:g.32853779G>A rs202053684 0.00029
NM_000593.6(TAP1):c.1115C>T (p.Ser372Leu) rs147332077 0.00029
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_000593.6(TAP1):c.-59C>T rs554237124 0.00022
NM_000593.6(TAP1):c.746A>G (p.Tyr249Cys) rs143185338 0.00022
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_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
NC_000006.12:g.32853762C>A rs753996695 0.00014
NM_000593.6(TAP1):c.1051-11T>C rs371544893 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
NC_000006.12:g.32853720G>C rs770558961 0.00011
NM_000593.6(TAP1):c.2040+6G>A rs371984928 0.00011
NM_000593.6(TAP1):c.1957T>A (p.Leu653Met) rs772090667 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_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_000593.6(TAP1):c.1561C>T (p.Leu521=) rs372643992 0.00007
NM_000593.6(TAP1):c.552G>C (p.Thr184=) rs138368358 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_000593.6(TAP1):c.1155C>T (p.Gly385=) rs139907578 0.00005
NM_000593.6(TAP1):c.704C>G (p.Thr235Ser) rs147066418 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.284C>T (p.Ala95Val) rs1383030445 0.00004
NM_000593.6(TAP1):c.362C>T (p.Ala121Val) rs762677297 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
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.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
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.214G>A (p.Ala72Thr) rs1266560493 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.599-1G>A rs1770853358 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
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.1604C>T (p.Ala535Val)
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.217T>G (p.Cys73Gly)
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.884del (p.Leu295fs)
NM_000593.6(TAP1):c.886A>C (p.Ser296Arg)
NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)
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=)

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