ClinVar Miner

List of variants reported as likely benign for MHC class I deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
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.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_003190.5(TAPBP):c.175G>T (p.Asp59Tyr) rs45583737 0.00441
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.770C>T (p.Thr257Ile) rs138586326 0.00247
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_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.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
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_003190.5(TAPBP):c.161C>G (p.Pro54Arg) rs139155669 0.00073
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
NC_000006.12:g.32853805A>C rs148176741 0.00061
NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile) rs142455342 0.00047
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_000593.6(TAP1):c.1593C>T (p.Gly531=) rs144951468 0.00035
NM_003190.5(TAPBP):c.753C>T (p.Thr251=) rs147684698 0.00033
NM_000593.6(TAP1):c.1903+18C>G rs374080419 0.00024
NM_000593.6(TAP1):c.819G>A (p.Thr273=) rs555493390 0.00024
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.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
NM_000593.6(TAP1):c.1051-11T>C rs371544893 0.00014
NC_000006.12:g.32853751C>G rs760815768 0.00013
NM_000593.6(TAP1):c.1377+16C>T rs368263473 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_003190.5(TAPBP):c.1228C>T (p.Leu410Phe) rs200685500 0.00011
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_000593.6(TAP1):c.1904-14C>T rs550493302 0.00009
NM_001290043.2(TAP2):c.1470G>A (p.Thr490=) rs140488350 0.00009
NM_001290043.2(TAP2):c.1932C>T (p.Ala644=) rs200318579 0.00009
NM_003190.5(TAPBP):c.1185C>T (p.Ser395=) rs369975343 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
NC_000006.12:g.32853718G>A rs866695760 0.00006
NM_001290043.2(TAP2):c.*9G>A rs770581305 0.00006
NM_001290043.2(TAP2):c.1461+20A>G rs755548838 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.375G>C (p.Gln125His) rs562176186 0.00006
NM_001290043.2(TAP2):c.771C>T (p.Thr257=) rs372434311 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_000593.6(TAP1):c.1155C>T (p.Gly385=) rs139907578 0.00005
NM_001290043.2(TAP2):c.1119C>T (p.Arg373=) rs373723421 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_000593.6(TAP1):c.1398C>A (p.Pro466=) rs374008463 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.2154C>T (p.Gly718=) rs748368417 0.00004
NM_001290043.2(TAP2):c.1041C>T (p.Ala347=) rs760274197 0.00004
NM_001290043.2(TAP2):c.249C>A (p.Val83=) rs771431299 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_000593.6(TAP1):c.1305C>T (p.Thr435=) rs754417390 0.00003
NM_001290043.2(TAP2):c.1461+17G>A rs747635324 0.00003
NM_001290043.2(TAP2):c.1795+8C>T rs374476450 0.00003
NM_001290043.2(TAP2):c.235C>T (p.Leu79=) rs749689805 0.00003
NM_001290043.2(TAP2):c.739+19G>T rs764261291 0.00003
NM_003190.5(TAPBP):c.37+10C>G rs770222534 0.00003
NM_003190.5(TAPBP):c.631C>T (p.Leu211=) rs150471656 0.00003
NM_003190.5(TAPBP):c.933G>A (p.Pro311=) rs778870301 0.00003
NC_000006.12:g.32853730A>G rs1329303922 0.00002
NM_000593.6(TAP1):c.1567-17G>A rs1158574362 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_001290043.2(TAP2):c.1147C>T (p.Leu383=) rs761704456 0.00002
NM_001290043.2(TAP2):c.1503G>C (p.Leu501=) rs760602887 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.609-19T>C rs778623201 0.00002
NM_001290043.2(TAP2):c.714C>T (p.Leu238=) rs539200475 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_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.1518A>G (p.Gln506=) rs577064548 0.00001
NM_000593.6(TAP1):c.1567-13C>G rs745320898 0.00001
NM_000593.6(TAP1):c.1602G>A (p.Thr534=) rs530026098 0.00001
NM_000593.6(TAP1):c.1836C>T (p.Ile612=) rs1770512950 0.00001
NM_000593.6(TAP1):c.2121G>A (p.Glu707=) rs764242641 0.00001
NM_000593.6(TAP1):c.2187C>T (p.Leu729=) rs1770319548 0.00001
NM_000593.6(TAP1):c.363C>A (p.Ala121=) rs1275960530 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.810C>T (p.Arg270=) rs1401762778 0.00001
NM_000593.6(TAP1):c.845-12C>T rs1207093185 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_001290043.2(TAP2):c.1005C>T (p.Ala335=) rs779246483 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.1278G>A (p.Leu426=) rs754216065 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.144G>A (p.Gly48=) rs556618855 0.00001
NM_001290043.2(TAP2):c.1497G>A (p.Thr499=) rs1236881546 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.1734G>A (p.Ala578=) rs543399235 0.00001
NM_001290043.2(TAP2):c.1827G>A (p.Ala609=) rs764437170 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.2046G>A (p.Lys682=) rs1212296156 0.00001
NM_001290043.2(TAP2):c.273A>C (p.Pro91=) rs754928206 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.576C>T (p.Ala192=) rs370372252 0.00001
NM_001290043.2(TAP2):c.608+15G>T rs772360977 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.867G>A (p.Ser289=) rs775338272 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_003190.5(TAPBP):c.1014C>T (p.Gly338=) rs749398191 0.00001
NM_003190.5(TAPBP):c.21C>T (p.Leu7=) rs768367936 0.00001
NM_003190.5(TAPBP):c.342C>T (p.Asn114=) rs778522290 0.00001
NM_003190.5(TAPBP):c.426G>A (p.Gln142=) rs148601579 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.869-16C>T rs1479415145 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_000006.12:g.32853736G>A
NC_000006.12:g.32853760G>A
NC_000006.12:g.32853766C>T
NC_000006.12:g.32853787T>C
NC_000006.12:g.32853787T>G
NC_000006.12:g.32853793T>C
NC_000006.12:g.32853811A>G
NM_000593.6(TAP1):c.-16C>T
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.1101C>A (p.Ala367=) rs2127390366
NM_000593.6(TAP1):c.1146C>T (p.Asn382=)
NM_000593.6(TAP1):c.1167G>A (p.Lys389=)
NM_000593.6(TAP1):c.1200C>A (p.Leu400=)
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.1278C>T (p.Ile426=)
NM_000593.6(TAP1):c.1311G>T (p.Gly437=)
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.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.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.1566+14C>G rs1388024069
NM_000593.6(TAP1):c.1581C>T (p.Thr527=)
NM_000593.6(TAP1):c.1593C>G (p.Gly531=) rs144951468
NM_000593.6(TAP1):c.15G>A (p.Arg5=)
NM_000593.6(TAP1):c.160C>T (p.Leu54=)
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.1689G>T (p.Leu563=) rs2127387561
NM_000593.6(TAP1):c.1710C>T (p.Pro570=) rs1770540799
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.1800C>T (p.Ala600=)
NM_000593.6(TAP1):c.1812C>T (p.Thr604=) rs1582629223
NM_000593.6(TAP1):c.1903+12A>G
NM_000593.6(TAP1):c.1903+19del
NM_000593.6(TAP1):c.1911C>T (p.Asp637=)
NM_000593.6(TAP1):c.1938T>C (p.Gly646=)
NM_000593.6(TAP1):c.1968A>T (p.Ala656=) rs745731367
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.2072G>A (p.Arg691Gln) rs200753447
NM_000593.6(TAP1):c.2094C>T (p.Leu698=) rs1582621927
NM_000593.6(TAP1):c.2139C>A (p.Leu713=) rs1055956289
NM_000593.6(TAP1):c.2145G>T (p.Leu715=)
NM_000593.6(TAP1):c.291G>A (p.Lys97=)
NM_000593.6(TAP1):c.294A>G (p.Pro98=)
NM_000593.6(TAP1):c.30C>T (p.Arg10=)
NM_000593.6(TAP1):c.333C>T (p.Ala111=)
NM_000593.6(TAP1):c.354A>C (p.Ser118=)
NM_000593.6(TAP1):c.354A>T (p.Ser118=)
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.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.513C>T (p.Asn171=)
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.609C>T (p.Ala203=)
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.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.82C>T (p.Leu28=)
NM_000593.6(TAP1):c.844+9T>C
NM_000593.6(TAP1):c.861G>A (p.Arg287=) rs2127391156
NM_000593.6(TAP1):c.876G>A (p.Thr292=)
NM_000593.6(TAP1):c.879C>T (p.Ser293=)
NM_000593.6(TAP1):c.90C>T (p.Leu30=)
NM_000593.6(TAP1):c.93C>T (p.Ala31=)
NM_000593.6(TAP1):c.942A>G (p.Leu314=)
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.1014G>A (p.Gly338=)
NM_001290043.2(TAP2):c.1083A>G (p.Gln361=) rs1369405533
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.1144-17T>C
NM_001290043.2(TAP2):c.1144-6T>C rs9461814
NM_001290043.2(TAP2):c.1174C>T (p.Leu392=)
NM_001290043.2(TAP2):c.1179C>T (p.Ser393=) rs1769141226
NM_001290043.2(TAP2):c.1185G>C (p.Gly395=) rs2127358619
NM_001290043.2(TAP2):c.123G>A (p.Glu41=)
NM_001290043.2(TAP2):c.1254C>T (p.Ser418=)
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.1374G>C (p.Thr458=)
NM_001290043.2(TAP2):c.1398G>C (p.Gly466=) rs137982419
NM_001290043.2(TAP2):c.1434C>T (p.Pro478=) rs2127355585
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.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.1635+20A>T
NM_001290043.2(TAP2):c.1636-19C>T
NM_001290043.2(TAP2):c.1650G>T (p.Gly550=)
NM_001290043.2(TAP2):c.1671C>T (p.Ser557=)
NM_001290043.2(TAP2):c.1725G>A (p.Lys575=)
NM_001290043.2(TAP2):c.1749C>T (p.Ala583=) rs2127353933
NM_001290043.2(TAP2):c.1767C>A (p.Ile589=) rs773755340
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>T (p.Cys641=)
NM_001290043.2(TAP2):c.192A>G (p.Thr64=)
NM_001290043.2(TAP2):c.1962C>T (p.Arg654=)
NM_001290043.2(TAP2):c.2061G>A (p.Ter687=) rs1445727553
NM_001290043.2(TAP2):c.267T>A (p.Ala89=) rs545542514
NM_001290043.2(TAP2):c.309G>T (p.Leu103=)
NM_001290043.2(TAP2):c.315G>A (p.Gly105=) rs750160800
NM_001290043.2(TAP2):c.411G>A (p.Leu137=) rs1769521534
NM_001290043.2(TAP2):c.441G>A (p.Pro147=)
NM_001290043.2(TAP2):c.459T>A (p.Val153=)
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.51G>A (p.Ala17=) rs755209680
NM_001290043.2(TAP2):c.552T>C (p.Phe184=)
NM_001290043.2(TAP2):c.591C>T (p.Cys197=)
NM_001290043.2(TAP2):c.594C>G (p.Leu198=)
NM_001290043.2(TAP2):c.609-14C>T
NM_001290043.2(TAP2):c.609-16T>C
NM_001290043.2(TAP2):c.609-7C>T
NM_001290043.2(TAP2):c.667T>C (p.Leu223=)
NM_001290043.2(TAP2):c.672G>T (p.Arg224=) rs776829392
NM_001290043.2(TAP2):c.687T>G (p.Leu229=)
NM_001290043.2(TAP2):c.690C>T (p.Phe230=)
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.765G>A (p.Ser255=)
NM_001290043.2(TAP2):c.786C>T (p.Asn262=)
NM_001290043.2(TAP2):c.814T>C (p.Leu272=)
NM_001290043.2(TAP2):c.84G>A (p.Gly28=)
NM_001290043.2(TAP2):c.861C>T (p.Ser287=)
NM_001290043.2(TAP2):c.909A>C (p.Thr303=)
NM_001290043.2(TAP2):c.936C>G (p.Thr312=)
NM_001290043.2(TAP2):c.945+7G>T rs779147813
NM_001290043.2(TAP2):c.946-12C>T
NM_001290043.2(TAP2):c.983C>G (p.Ala328Gly) rs148663600
NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)
NM_003190.5(TAPBP):c.1052C>T (p.Ala351Val)
NM_003190.5(TAPBP):c.1068C>T (p.Ser356=)
NM_003190.5(TAPBP):c.108G>A (p.Lys36=)
NM_003190.5(TAPBP):c.1164C>T (p.Ser388=)
NM_003190.5(TAPBP):c.1170T>C (p.Pro390=)
NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)
NM_003190.5(TAPBP):c.1210+11G>A
NM_003190.5(TAPBP):c.1210+8C>T
NM_003190.5(TAPBP):c.1227C>T (p.Ser409=)
NM_003190.5(TAPBP):c.1248T>C (p.Leu416=) rs2150959869
NM_003190.5(TAPBP):c.1300+11G>C
NM_003190.5(TAPBP):c.1300+17C>A
NM_003190.5(TAPBP):c.1309C>T (p.Leu437=) rs1382973887
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.162G>T (p.Pro54=)
NM_003190.5(TAPBP):c.165G>A (p.Pro55=)
NM_003190.5(TAPBP):c.168C>T (p.Pro56=)
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.177C>T (p.Asp59=) rs1562701808
NM_003190.5(TAPBP):c.198C>T (p.Leu66=)
NM_003190.5(TAPBP):c.24C>T (p.Leu8=)
NM_003190.5(TAPBP):c.282C>T (p.Ser94=)
NM_003190.5(TAPBP):c.300C>T (p.Pro100=) rs2150974759
NM_003190.5(TAPBP):c.348G>T (p.Pro116=) rs779747861
NM_003190.5(TAPBP):c.37+14G>A
NM_003190.5(TAPBP):c.37+16G>T
NM_003190.5(TAPBP):c.372G>C (p.Leu124=)
NM_003190.5(TAPBP):c.38-16C>T
NM_003190.5(TAPBP):c.39C>T (p.Gly13=)
NM_003190.5(TAPBP):c.414C>T (p.Leu138=)
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.495C>T (p.Thr165=)
NM_003190.5(TAPBP):c.534G>A (p.Leu178=)
NM_003190.5(TAPBP):c.558C>A (p.Pro186=)
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.657T>A (p.Ala219=)
NM_003190.5(TAPBP):c.657T>G (p.Ala219=)
NM_003190.5(TAPBP):c.747A>T (p.Pro249=) rs2150961711
NM_003190.5(TAPBP):c.772C>T (p.Leu258=)
NM_003190.5(TAPBP):c.804C>T (p.Thr268=)
NM_003190.5(TAPBP):c.850C>T (p.Leu284=)
NM_003190.5(TAPBP):c.868+11G>A
NM_003190.5(TAPBP):c.869-12C>T
NM_003190.5(TAPBP):c.869-15G>A
NM_003190.5(TAPBP):c.946C>T (p.Leu316Phe)
NM_003190.5(TAPBP):c.969T>C (p.Ser323=)
NM_003190.5(TAPBP):c.975C>G (p.Gly325=)

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