ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance for Tuberous sclerosis syndrome

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Gene type:
ClinVar version:
Total variants: 791
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638 0.00013
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn) rs751990617 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) rs768684515 0.00011
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00009
NM_000548.5(TSC2):c.926T>A (p.Leu309His) rs75348431 0.00009
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_000548.5(TSC2):c.*77G>A rs886051799 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742 0.00006
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly) rs369553241 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288 0.00006
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu) rs368285556 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
NM_000548.5(TSC2):c.4849+12C>T rs45517373 0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017 0.00005
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00004
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) rs145258407 0.00004
NM_000548.5(TSC2):c.2742+6C>T rs377568673 0.00004
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791 0.00004
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945 0.00004
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00004
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533 0.00004
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00004
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) rs377129517 0.00004
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser) rs749501410 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445 0.00004
NM_000548.5(TSC2):c.5307C>T (p.His1769=) rs562220073 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191 0.00004
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr) rs766547457 0.00004
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000548.5(TSC2):c.139-15T>G rs563094714 0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.1751C>T (p.Thr584Met) rs751147419 0.00003
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys) rs370324876 0.00003
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206 0.00003
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe) rs747516623 0.00003
NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln) rs756536921 0.00003
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val) rs760214724 0.00003
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192 0.00003
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) rs45517286 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332 0.00003
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) rs769286175 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 0.00003
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341 0.00003
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343 0.00003
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.4849+5G>A rs1198379006 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp) rs904411432 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353 0.00003
NM_000548.5(TSC2):c.775-5C>T rs181827303 0.00003
NM_000548.5(TSC2):c.828G>A (p.Met276Ile) rs1318274503 0.00003
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys) rs1255519055 0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475 0.00003
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile) rs559727962 0.00002
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) rs777988634 0.00002
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197 0.00002
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro) rs764967942 0.00002
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398 0.00002
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn) rs374371998 0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=) rs201575136 0.00002
NM_000548.5(TSC2):c.1883G>A (p.Arg628His) rs774895427 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00002
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) rs754556513 0.00002
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220 0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284 0.00002
NM_000548.5(TSC2):c.2437G>A (p.Val813Met) rs375030314 0.00002
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) rs138527121 0.00002
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys) rs763047420 0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) rs149808366 0.00002
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu) rs45514100 0.00002
NM_000548.5(TSC2):c.344G>A (p.Arg115His) rs764529584 0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) rs373982157 0.00002
NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala) rs756957699 0.00002
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu) rs375785710 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp) rs1051502900 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys) rs1261020269 0.00002
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) rs778484981 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val) rs1060500913 0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys) rs1060500916 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp) rs757844109 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1154A>G (p.His385Arg) rs757353933 0.00001
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275 0.00001
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val) rs1413875392 0.00001
NM_000548.5(TSC2):c.1361+13C>T rs900870796 0.00001
NM_000548.5(TSC2):c.1362-9G>A rs763842281 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val) rs786203470 0.00001
NM_000548.5(TSC2):c.1596G>A (p.Glu532=) rs756466484 0.00001
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe) rs201334685 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser) rs891347695 0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile) rs1463643429 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) rs773304374 0.00001
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) rs763863196 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr) rs753235037 0.00001
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898 0.00001
NM_000548.5(TSC2):c.1946+5G>A rs766646261 0.00001
NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln) rs45488199 0.00001
NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser) rs1309151152 0.00001
NM_000548.5(TSC2):c.199G>A (p.Val67Ile) rs774506901 0.00001
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr) rs767626323 0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp) rs876658578 0.00001
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro) rs878854080 0.00001
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341 0.00001
NM_000548.5(TSC2):c.2077C>T (p.Leu693=) rs1167258871 0.00001
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) rs781153452 0.00001
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp) rs377397369 0.00001
NM_000548.5(TSC2):c.225+4G>A rs201901739 0.00001
NM_000548.5(TSC2):c.226-4A>G rs886051786 0.00001
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys) rs45517223 0.00001
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) rs780682938 0.00001
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 0.00001
NM_000548.5(TSC2):c.2355+6A>T rs904030973 0.00001
NM_000548.5(TSC2):c.2355+8G>A rs199558375 0.00001
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile) rs773786955 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala) rs748669016 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2473G>A (p.Val825Ile) rs149860212 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu) rs1180511535 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2674G>A (p.Val892Ile) rs376801256 0.00001
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) rs777282955 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp) rs781587135 0.00001
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014 0.00001
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) rs587778731 0.00001
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp) rs760688660 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys) rs45517269 0.00001
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu) rs200045926 0.00001
NM_000548.5(TSC2):c.2838-6C>T rs528706539 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn) rs1168031047 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln) rs779832805 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2944G>T (p.Val982Leu) rs773864188 0.00001
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val) rs2089807202 0.00001
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) rs147989574 0.00001
NM_000548.5(TSC2):c.3284+6T>G rs375837026 0.00001
NM_000548.5(TSC2):c.3285-5C>T rs1444989940 0.00001
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro) rs755815612 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr) rs1060500933 0.00001
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro) rs1260370117 0.00001
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu) rs397515308 0.00001
NM_000548.5(TSC2):c.337-15G>C rs772983704 0.00001
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys) rs1028039505 0.00001
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His) rs1412967226 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile) rs759174655 0.00001
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser) rs560522093 0.00001
NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu) rs762650392 0.00001
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750 0.00001
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln) rs746588726 0.00001
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452 0.00001
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser) rs1304251276 0.00001
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn) rs748095129 0.00001
NM_000548.5(TSC2):c.3883+5C>T rs45448994 0.00001
NM_000548.5(TSC2):c.3884-8C>G rs397515219 0.00001
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala) rs758677443 0.00001
NM_000548.5(TSC2):c.3899T>A (p.Met1300Lys) rs1349341137 0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737 0.00001
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe) rs200411484 0.00001
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326 0.00001
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864 0.00001
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe) rs1350803240 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser) rs778147657 0.00001
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) rs1057522238 0.00001
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00001
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791 0.00001
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392 0.00001
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) rs767889030 0.00001
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770 0.00001
NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly) rs766719443 0.00001
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu) rs1279603512 0.00001
NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn) rs45517353 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys) rs755177576 0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) rs373635516 0.00001
NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser) rs771289256 0.00001
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn) rs1257721773 0.00001
NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr) rs769913589 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445 0.00001
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) rs1555498118 0.00001
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691 0.00001
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_000548.5(TSC2):c.5161-12C>G rs1555440351 0.00001
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050 0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037 0.00001
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp) rs1193817827 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln) rs749487441 0.00001
NM_000548.5(TSC2):c.5259+15G>A rs373209496 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser) rs781226141 0.00001
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608 0.00001
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=) rs768237144 0.00001
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe) rs45455398 0.00001
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys) rs45517112 0.00001
NM_000548.5(TSC2):c.603G>C (p.Met201Ile) rs45506197 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_000548.5(TSC2):c.629C>T (p.Ala210Val) rs764925296 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser) rs1555498800 0.00001
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) rs760100924 0.00001
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro) rs768623382 0.00001
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys) rs375574283 0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.745G>A (p.Val249Ile) rs750649974 0.00001
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703 0.00001
NM_000548.5(TSC2):c.83C>A (p.Pro28His) rs1057522105 0.00001
NM_000548.5(TSC2):c.849-4T>C rs752614339 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu) rs780887572 0.00001
NM_000548.5(TSC2):c.879A>G (p.Arg293=) rs369222477 0.00001
NM_000548.5(TSC2):c.900C>T (p.Gly300=) rs1415187475 0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319 0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) rs751490043 0.00001
NM_000548.5(TSC2):c.976-10C>T rs765990217 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*5G>T
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*6G>C
NM_000548.5(TSC2):c.*86T>G rs915706457
NM_000548.5(TSC2):c.-4C>T rs1596233597
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1037T>C (p.Ile346Thr)
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys) rs1596298442
NM_000548.5(TSC2):c.1061A>T (p.Gln354Leu)
NM_000548.5(TSC2):c.1061_1119+22dup
NM_000548.5(TSC2):c.107C>T (p.Thr36Met) rs376280172
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.10C>T (p.Pro4Ser)
NM_000548.5(TSC2):c.1113G>T (p.Gln371His)
NM_000548.5(TSC2):c.1119+6G>A rs397515305
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser) rs1440918649
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys) rs45465395
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met) rs1596303442
NM_000548.5(TSC2):c.1181T>C (p.Leu394Pro)
NM_000548.5(TSC2):c.1186G>C (p.Asp396His) rs1596303501
NM_000548.5(TSC2):c.1192A>G (p.Asn398Asp)
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg) rs771561593
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys) rs2086693907
NM_000548.5(TSC2):c.1228C>G (p.Leu410Val)
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser) rs767670580
NM_000548.5(TSC2):c.1270C>A (p.Leu424Met)
NM_000548.5(TSC2):c.1290A>C (p.Arg430Ser)
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln) rs796053485
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys) rs535984356
NM_000548.5(TSC2):c.1348G>A (p.Glu450Lys)
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1356C>G (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1362-5del rs2086819893
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser) rs374252944
NM_000548.5(TSC2):c.1369T>A (p.Ser457Thr) rs2151170866
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr) rs1278503244
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.139-11TC[3]
NM_000548.5(TSC2):c.1393G>T (p.Val465Leu)
NM_000548.5(TSC2):c.1443+4C>G rs45517172
NM_000548.5(TSC2):c.1447G>C (p.Glu483Gln) rs397515297
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met) rs753344988
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly) rs45517179
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro) rs1413063599
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1556G>C (p.Cys519Ser)
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1600-14C>A rs45517185
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe) rs1296271407
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr) rs1596317209
NM_000548.5(TSC2):c.1621C>G (p.Pro541Ala) rs1596317209
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr) rs891347695
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1643G>A (p.Arg548Lys)
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr) rs748938385
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.165C>G (p.Asn55Lys)
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro) rs1596317415
NM_000548.5(TSC2):c.1690G>A (p.Val564Ile) rs147072281
NM_000548.5(TSC2):c.1690G>C (p.Val564Leu) rs147072281
NM_000548.5(TSC2):c.1699C>T (p.Leu567Phe) rs2087240694
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly) rs1555494544
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val) rs397515230
NM_000548.5(TSC2):c.1739C>T (p.Ala580Val) rs765043471
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His) rs1555505094
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln) rs1161261925
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile) rs984275273
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro) rs781087045
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe) rs45509791
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu) rs1555505178
NM_000548.5(TSC2):c.1821G>C (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg) rs2151282389
NM_000548.5(TSC2):c.1839+5G>C rs200568460
NM_000548.5(TSC2):c.1839+6G>C
NM_000548.5(TSC2):c.1840-6T>A rs747952317
NM_000548.5(TSC2):c.1841C>G (p.Ala614Gly)
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val) rs1446136662
NM_000548.5(TSC2):c.1879C>T (p.His627Tyr)
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1895C>G (p.Pro632Arg) rs750663771
NM_000548.5(TSC2):c.189G>T (p.Gln63His)
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1925C>A (p.Pro642His) rs1408228669
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) rs754504918
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr) rs991714565
NM_000548.5(TSC2):c.1996C>T (p.Pro666Ser) rs2151305388
NM_000548.5(TSC2):c.2005C>A (p.Pro669Thr)
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2017G>C (p.Ala673Pro)
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser) rs760566516
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro) rs767626323
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.5(TSC2):c.2072G>A (p.Arg691His) rs370553131
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe) rs2151308956
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn) rs752256613
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg) rs1596345229
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2104G>A (p.Asp702Asn)
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu) rs1596347145
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2134A>G (p.Arg712Gly)
NM_000548.5(TSC2):c.2146T>G (p.Ser716Ala)
NM_000548.5(TSC2):c.2161G>A (p.Val721Met) rs768261185
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2194C>A (p.Gln732Lys) rs45517216
NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala) rs753059579
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe) rs1485034650
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly) rs2084968438
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met) rs45517221
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys) rs1442440961
NM_000548.5(TSC2):c.2254G>T (p.Gly752Cys)
NM_000548.5(TSC2):c.2287C>G (p.His763Asp)
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val) rs777614710
NM_000548.5(TSC2):c.2356-12T>C rs1388493955
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.2379G>T (p.Glu793Asp)
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) rs1596356291
NM_000548.5(TSC2):c.2389A>T (p.Ile797Phe) rs1240217406
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr) rs2085359793
NM_000548.5(TSC2):c.2394C>T (p.His798=) rs547019464
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr) rs2151350205
NM_000548.5(TSC2):c.2431T>G (p.Cys811Gly)
NM_000548.5(TSC2):c.2434A>G (p.Ser812Gly)
NM_000548.5(TSC2):c.2473G>C (p.Val825Leu) rs149860212
NM_000548.5(TSC2):c.2473G>T (p.Val825Phe) rs149860212
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2525C>T (p.Pro842Leu) rs2151355682
NM_000548.5(TSC2):c.2545+3G>A rs2088950824
NM_000548.5(TSC2):c.2546-15T>A
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2623T>C (p.Tyr875His)
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg) rs2089276233
NM_000548.5(TSC2):c.2640-13C>A
NM_000548.5(TSC2):c.2640-15C>G rs1011282445
NM_000548.5(TSC2):c.2640-4T>C rs1596366489
NM_000548.5(TSC2):c.2655C>G (p.Ile885Met) rs1060504116
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.2677A>G (p.Ile893Val)
NM_000548.5(TSC2):c.268C>G (p.Gln90Glu)
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly) rs2089322279
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr) rs1555496979
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe) rs587778731
NM_000548.5(TSC2):c.2771T>C (p.Phe924Ser)
NM_000548.5(TSC2):c.2772T>G (p.Phe924Leu)
NM_000548.5(TSC2):c.2779A>C (p.Thr927Pro) rs1420034406
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile) rs144329595
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2824G>A (p.Glu942Lys)
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del) rs1460562160
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.2966+1G>A rs2089600815
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr) rs1555510234
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser) rs45517278
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3074C>G (p.Thr1025Ser)
NM_000548.5(TSC2):c.3110A>C (p.Asn1037Thr) rs2089806008
NM_000548.5(TSC2):c.3110A>G (p.Asn1037Ser)
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln)
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu) rs745731000
NM_000548.5(TSC2):c.3166A>G (p.Arg1056Gly) rs2151437774
NM_000548.5(TSC2):c.3170C>T (p.Thr1057Ile) rs1596383758
NM_000548.5(TSC2):c.3172A>G (p.Lys1058Glu)
NM_000548.5(TSC2):c.3181C>A (p.Leu1061Met)
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.319G>A (p.Ala107Thr)
NM_000548.5(TSC2):c.3211A>G (p.Thr1071Ala)
NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu)
NM_000548.5(TSC2):c.3223A>C (p.Thr1075Pro)
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del) rs137854302
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.5(TSC2):c.3275C>A (p.Pro1092Gln)
NM_000548.5(TSC2):c.3277G>C (p.Glu1093Gln)
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser) rs772686090
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg) rs773545852
NM_000548.5(TSC2):c.3295G>C (p.Gly1099Arg)
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met) rs1596385749
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr) rs764113584
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp) rs1266039524
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3337G>C (p.Glu1113Gln) rs1567500491
NM_000548.5(TSC2):c.3341C>T (p.Ser1114Phe)
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe) rs1596386254
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup) rs1387479871
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys) rs2089952201
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) rs397515021
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly) rs772215032
NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala) rs1266509754
NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser) rs1266509754
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala) rs1477039147
NM_000548.5(TSC2):c.3488C>T (p.Ala1163Val) rs1596390123
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp) rs2151459095
NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu) rs45517296
NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp) rs1567504268
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu) rs753110463
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del) rs1060500937
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg) rs373481458
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3611-11C>G rs375617364
NM_000548.5(TSC2):c.3620G>A (p.Ser1207Asn)
NM_000548.5(TSC2):c.3624G>T (p.Trp1208Cys)
NM_000548.5(TSC2):c.364C>A (p.Leu122Ile)
NM_000548.5(TSC2):c.3650G>A (p.Ser1217Asn) rs2151481330
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del) rs1342475885
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr) rs2090157003
NM_000548.5(TSC2):c.3695C>G (p.Ser1232Cys)
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr) rs1567510644
NM_000548.5(TSC2):c.3713C>T (p.Ala1238Val)
NM_000548.5(TSC2):c.3760T>C (p.Ser1254Pro)
NM_000548.5(TSC2):c.3773C>T (p.Ala1258Val)
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn) rs1596400661
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala) rs1310948800
NM_000548.5(TSC2):c.3787C>A (p.Pro1263Thr)
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3800C>T (p.Pro1267Leu) rs1245115663
NM_000548.5(TSC2):c.3814+5G>A rs1555512582
NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe) rs1330915229
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val) rs374146919
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His) rs1449727037
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg) rs2090264891
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly) rs2090265922
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu) rs1202650869
NM_000548.5(TSC2):c.3883+1G>C
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val) rs1596411880
NM_000548.5(TSC2):c.3913C>A (p.Pro1305Thr)
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser) rs777398393
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=) rs1811018177
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser) rs2090425460
NM_000548.5(TSC2):c.3962A>C (p.Glu1321Ala)
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly)
NM_000548.5(TSC2):c.3991G>A (p.Asp1331Asn) rs770396146
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del) rs1567520255
NM_000548.5(TSC2):c.4042C>T (p.His1348Tyr) rs2151521367
NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys) rs878854101
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro) rs762798984
NM_000548.5(TSC2):c.4091C>T (p.Ser1364Phe)
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser) rs1596415966
NM_000548.5(TSC2):c.4114G>T (p.Val1372Leu)
NM_000548.5(TSC2):c.4120C>T (p.Leu1374Phe)
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4130A>G (p.Gln1377Arg)
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
NM_000548.5(TSC2):c.4163C>A (p.Ser1388Tyr)
NM_000548.5(TSC2):c.4180C>G (p.Leu1394Val)
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala) rs778147657
NM_000548.5(TSC2):c.4211A>G (p.Lys1404Arg)
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly) rs45517333
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser) rs1480313663
NM_000548.5(TSC2):c.4245G>C (p.Lys1415Asn)
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln) rs1343536158
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His) rs1216613310
NM_000548.5(TSC2):c.428T>A (p.Phe143Tyr)
NM_000548.5(TSC2):c.4309A>T (p.Ser1437Cys)
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4330C>T (p.Pro1444Ser) rs1459518095
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His) rs45517338
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser) rs369553241
NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile) rs758233186
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe) rs1199848222
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala) rs907136617
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile) rs1555497690
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.5(TSC2):c.4460C>T (p.Ser1487Phe)
NM_000548.5(TSC2):c.4468G>A (p.Glu1490Lys) rs2090542133
NM_000548.5(TSC2):c.4493+15T>G rs2090547818
NM_000548.5(TSC2):c.4493+3_4493+6dup
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4498G>C (p.Val1500Leu)
NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr) rs746246149
NM_000548.5(TSC2):c.4526T>C (p.Phe1509Ser)
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp) rs2151544129
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly) rs1596422775
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile) rs144062721
NM_000548.5(TSC2):c.4570-13C>G rs370549253
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu) rs1441428144
NM_000548.5(TSC2):c.4574A>G (p.Gln1525Arg) rs1596426462
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4586G>T (p.Arg1529Leu) rs769834772
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu) rs1567528487
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) rs753060862
NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu) rs753060862
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser) rs876659806
NM_000548.5(TSC2):c.4706A>G (p.Tyr1569Cys) rs2090771064
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys) rs45437192
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=) rs1257270850
NM_000548.5(TSC2):c.4753A>G (p.Lys1585Glu)
NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)
NM_000548.5(TSC2):c.4755G>C (p.Lys1585Asn)
NM_000548.5(TSC2):c.476A>G (p.Glu159Gly)
NM_000548.5(TSC2):c.482-10T>A
NM_000548.5(TSC2):c.482-5C>G rs397515071
NM_000548.5(TSC2):c.4820C>T (p.Thr1607Ile)
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser) rs759795928
NM_000548.5(TSC2):c.4849+3A>G rs1057521378
NM_000548.5(TSC2):c.4849+5_4849+32del
NM_000548.5(TSC2):c.4850-9C>A
NM_000548.5(TSC2):c.4914G>T (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4965G>T (p.Glu1655Asp)
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.5(TSC2):c.4989+6T>C
NM_000548.5(TSC2):c.4994A>T (p.Gln1665Leu)
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser) rs1555439678
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu) rs745787082
NM_000548.5(TSC2):c.5005G>A (p.Val1669Ile) rs2091047035
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp) rs1596454994
NM_000548.5(TSC2):c.502A>C (p.Met168Leu) rs779566253
NM_000548.5(TSC2):c.502A>G (p.Met168Val) rs779566253
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser) rs1555439802
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu) rs1596455392
NM_000548.5(TSC2):c.5068+22_5068+23insTGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGC
NM_000548.5(TSC2):c.5068+29_5068+30insTAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAG
NM_000548.5(TSC2):c.5069-11A>C
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile) rs2091087331
NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe) rs760781650
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp) rs983899092
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu) rs139779505
NM_000548.5(TSC2):c.5138G>T (p.Arg1713Leu)
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val) rs397514974
NM_000548.5(TSC2):c.5160+3G>A rs45517401
NM_000548.5(TSC2):c.5173G>A (p.Val1725Met)
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.5(TSC2):c.517T>C (p.Ser173Pro)
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg) rs397514955
NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys) rs2091134565
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe) rs773662047
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) rs137854219
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys) rs45517411
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys) rs1555498151
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln) rs1555440785
NM_000548.5(TSC2):c.5258G>C (p.Arg1753Pro) rs749487441
NM_000548.5(TSC2):c.5259+50_5275del rs2091168537
NM_000548.5(TSC2):c.5260-10_5278del rs756272343
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val) rs45477298
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=) rs1060500954
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5303T>C (p.Val1768Ala) rs1171556696
NM_000548.5(TSC2):c.5315C>T (p.Ser1772Phe) rs2151639562
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5359G>C (p.Gly1787Arg)
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup) rs137854335
NM_000548.5(TSC2):c.5383C>G (p.Arg1795Gly) rs45517423
NM_000548.5(TSC2):c.5387_5388insTCATCTCCTCGGTGGAGGACT (p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu)
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5418_5419insTG (p.Val1807fs)
NM_000548.5(TSC2):c.5419G>A (p.Val1807Met)
NM_000548.5(TSC2):c.5420T>C (p.Val1807Ala)
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg) rs1567135442
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser) rs764218079
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn) rs1284679649
NM_000548.5(TSC2):c.576C>A (p.Asp192Glu)
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000548.5(TSC2):c.600-4G>T rs976201466
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro) rs2085789314
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.637G>A (p.Val213Met) rs1060500927
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln) rs45517118
NM_000548.5(TSC2):c.667G>C (p.Asp223His)
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly)
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser) rs1043187800
NM_000548.5(TSC2):c.718A>G (p.Ile240Val) rs796053482
NM_000548.5(TSC2):c.745G>C (p.Val249Leu) rs750649974
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe) rs766547457
NM_000548.5(TSC2):c.764C>A (p.Pro255His) rs2085896951
NM_000548.5(TSC2):c.764C>G (p.Pro255Arg)
NM_000548.5(TSC2):c.774+4G>A rs1244859914
NM_000548.5(TSC2):c.775-10T>A
NM_000548.5(TSC2):c.779T>C (p.Met260Thr)
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly) rs45517130
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp) rs2084677815
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly) rs1555499071
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser) rs373818076
NM_000548.5(TSC2):c.818T>C (p.Ile273Thr)
NM_000548.5(TSC2):c.81T>A (p.Asn27Lys)
NM_000548.5(TSC2):c.826A>G (p.Met276Val) rs1238874343
NM_000548.5(TSC2):c.833A>G (p.His278Arg) rs397515266
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu) rs587778734
NM_000548.5(TSC2):c.848+5G>T rs1370989559
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.897G>A (p.Val299=) rs1382139812
NM_000548.5(TSC2):c.902T>A (p.Met301Lys)
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile) rs1060500943
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe) rs1060500943
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.917C>T (p.Ala306Val) rs2086235107
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe) rs1258567486
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu) rs751490043
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.955G>A (p.Val319Met) rs1432086775
NM_000548.5(TSC2):c.975G>C (p.Gln325His) rs1567416259
NM_000548.5(TSC2):c.982G>A (p.Ala328Thr)
NM_000548.5(TSC2):c.989C>G (p.Pro330Arg)
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp) rs1352220583
NM_000548.5(TSC2):c.993C>G (p.Asn331Lys)

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