ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance for Tuberous sclerosis 2

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 987
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HGVS dbSNP
NC_000016.10:g.(?_2048610)_(2060819_?)dup
NC_000016.10:g.(?_2058741)_(2088616_?)dup
NC_000016.10:g.(?_2060650)_(2065655_?)dup
NM_000548.3(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.3(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.3(TSC2):c.1443+5G>A rs1057521562
NM_000548.3(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.3(TSC2):c.1534C>G (p.Leu512Val) rs772834557
NM_000548.3(TSC2):c.1610G>A (p.Arg537His) rs372681603
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.3(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.3(TSC2):c.2072G>T (p.Arg691Leu) rs370553131
NM_000548.3(TSC2):c.213G>T (p.Lys71Asn) rs766200310
NM_000548.3(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
NM_000548.3(TSC2):c.2246G>A (p.Arg749Gln) rs766442736
NM_000548.3(TSC2):c.2357G>A (p.Arg786His) rs796053511
NM_000548.3(TSC2):c.2545A>G (p.Thr849Ala) rs781713438
NM_000548.3(TSC2):c.2678T>C (p.Ile893Thr) rs796053491
NM_000548.3(TSC2):c.2756A>G (p.Asn919Ser) rs780057014
NM_000548.3(TSC2):c.2838-3T>G rs553942147
NM_000548.3(TSC2):c.2932C>T (p.Arg978Cys) rs768241596
NM_000548.3(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.3(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492
NM_000548.3(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.3(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.3(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.3(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675
NM_000548.3(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297
NM_000548.3(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391
NM_000548.3(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.3(TSC2):c.3779C>T (p.Thr1260Met) rs776738338
NM_000548.3(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452
NM_000548.3(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959
NM_000548.3(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.3(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.3(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928
NM_000548.3(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.3(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.3(TSC2):c.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800
NM_000548.3(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.3(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445
NM_000548.3(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493
NM_000548.3(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.3(TSC2):c.5221A>G (p.Ile1741Val) rs140526185
NM_000548.3(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603
NM_000548.3(TSC2):c.5260-1G>C rs1057518103
NM_000548.3(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.3(TSC2):c.5318A>G (p.His1773Arg) rs45517418
NM_000548.3(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.3(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275
NM_000548.3(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.3(TSC2):c.5394_5396delCTC (p.Ser1799del) rs796053480
NM_000548.3(TSC2):c.560A>G (p.Asn187Ser) rs45505405
NM_000548.3(TSC2):c.646G>A (p.Glu216Lys) rs45517118
NM_000548.3(TSC2):c.648+6T>C rs372007135
NM_000548.3(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.3(TSC2):c.782G>A (p.Arg261Gln) rs45502703
NM_000548.3(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.4(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.4(TSC2):c.1004C>T (p.Ser335Phe)
NM_000548.4(TSC2):c.1007A>G (p.Tyr336Cys) rs780378198
NM_000548.4(TSC2):c.1015G>A (p.Val339Ile) rs559727962
NM_000548.4(TSC2):c.1015G>C (p.Val339Leu)
NM_000548.4(TSC2):c.101A>C (p.Lys34Thr) rs777988634
NM_000548.4(TSC2):c.1024A>G (p.Ile342Val) rs1060500913
NM_000548.4(TSC2):c.1033C>T (p.Leu345Phe) rs397515146
NM_000548.4(TSC2):c.1036A>G (p.Ile346Val) rs768760795
NM_000548.4(TSC2):c.1046A>G (p.Tyr349Cys) rs1060500916
NM_000548.4(TSC2):c.106A>G (p.Thr36Ala) rs757113497
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1078A>G (p.Ile360Val) rs1555500560
NM_000548.4(TSC2):c.1088A>G (p.Asn363Ser)
NM_000548.4(TSC2):c.1088A>T (p.Asn363Ile)
NM_000548.4(TSC2):c.1096G>A (p.Glu366Lys) rs45517148
NM_000548.4(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.4(TSC2):c.1102C>T (p.Leu368Phe)
NM_000548.4(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.4(TSC2):c.1118A>G (p.Gln373Arg)
NM_000548.4(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.4(TSC2):c.1120-5dup rs1555500983
NM_000548.4(TSC2):c.1121C>G (p.Thr374Ser) rs1440918649
NM_000548.4(TSC2):c.1126G>A (p.Asp376Asn) rs1060500976
NM_000548.4(TSC2):c.1133C>G (p.Pro378Arg) rs45517154
NM_000548.4(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000548.4(TSC2):c.116T>C (p.Ile39Thr) rs184437554
NM_000548.4(TSC2):c.1171G>A (p.Val391Met) rs1555501071
NM_000548.4(TSC2):c.1172T>C (p.Val391Ala)
NM_000548.4(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.4(TSC2):c.1187A>T (p.Asp396Val) rs1365616275
NM_000548.4(TSC2):c.1204G>A (p.Gly402Arg) rs771561593
NM_000548.4(TSC2):c.1208C>T (p.Ser403Phe) rs1555501098
NM_000548.4(TSC2):c.1213G>C (p.Glu405Gln) rs765622787
NM_000548.4(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.4(TSC2):c.1223T>G (p.Phe408Cys) rs1555501123
NM_000548.4(TSC2):c.1231G>T (p.Val411Leu)
NM_000548.4(TSC2):c.1235A>G (p.Glu412Gly) rs137854026
NM_000548.4(TSC2):c.1256C>T (p.Pro419Leu)
NM_000548.4(TSC2):c.1258-3C>A
NM_000548.4(TSC2):c.1258G>A (p.Glu420Lys) rs796053484
NM_000548.4(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.4(TSC2):c.1275C>A (p.Asn425Lys) rs878854076
NM_000548.4(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.4(TSC2):c.1286A>G (p.Tyr429Cys) rs774727624
NM_000548.4(TSC2):c.1298C>A (p.Ser433Tyr)
NM_000548.4(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.4(TSC2):c.1304A>T (p.His435Leu) rs1555501389
NM_000548.4(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.4(TSC2):c.131T>C (p.Ile44Thr) rs1190102918
NM_000548.4(TSC2):c.1325T>G (p.Ile442Ser) rs879255344
NM_000548.4(TSC2):c.1329G>C (p.Gln443His)
NM_000548.4(TSC2):c.1332C>G (p.Asn444Lys) rs535984356
NM_000548.4(TSC2):c.1340C>G (p.Ala447Gly) rs45486591
NM_000548.4(TSC2):c.1342C>G (p.Leu448Val) rs1413875392
NM_000548.4(TSC2):c.1345A>T (p.Met449Leu) rs1555501441
NM_000548.4(TSC2):c.134T>G (p.Leu45Arg) rs1383831944
NM_000548.4(TSC2):c.1353A>G (p.Arg451=) rs1555501456
NM_000548.4(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.4(TSC2):c.1361+3A>G
NM_000548.4(TSC2):c.1362-5C>G rs372424945
NM_000548.4(TSC2):c.1362-7C>G rs1555501647
NM_000548.4(TSC2):c.1362G>C (p.Arg454Ser) rs374252944
NM_000548.4(TSC2):c.1364G>A (p.Ser455Asn)
NM_000548.4(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
NM_000548.4(TSC2):c.1367A>G (p.Glu456Gly) rs876659386
NM_000548.4(TSC2):c.1370C>A (p.Ser457Tyr) rs1278503244
NM_000548.4(TSC2):c.1373G>A (p.Arg458Gln) rs878854077
NM_000548.4(TSC2):c.1375G>T (p.Gly459Cys)
NM_000548.4(TSC2):c.138+10C>G rs748932830
NM_000548.4(TSC2):c.1384C>T (p.Arg462Cys) rs397515261
NM_000548.4(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.4(TSC2):c.1388T>G (p.Ile463Ser) rs1060500940
NM_000548.4(TSC2):c.139-6C>G rs778516569
NM_000548.4(TSC2):c.1390A>G (p.Lys464Glu) rs1555501694
NM_000548.4(TSC2):c.13A>G (p.Thr5Ala) rs45517093
NM_000548.4(TSC2):c.1400A>G (p.Asp467Gly) rs1060500977
NM_000548.4(TSC2):c.1417C>G (p.Leu473Val) rs1321215329
NM_000548.4(TSC2):c.1433A>G (p.Gln478Arg) rs1555501733
NM_000548.4(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.4(TSC2):c.1463T>C (p.Val488Ala)
NM_000548.4(TSC2):c.1472C>T (p.Ser491Leu) rs45517176
NM_000548.4(TSC2):c.147C>T (p.Ser49=) rs1555495692
NM_000548.4(TSC2):c.1480T>C (p.Ser494Pro) rs1555502412
NM_000548.4(TSC2):c.1494G>A (p.Glu498=) rs780112077
NM_000548.4(TSC2):c.1495G>A (p.Asp499Asn) rs1555502438
NM_000548.4(TSC2):c.149T>C (p.Met50Thr) rs1060500955
NM_000548.4(TSC2):c.1504C>T (p.His502Tyr)
NM_000548.4(TSC2):c.1508A>G (p.Gln503Arg)
NM_000548.4(TSC2):c.1513C>G (p.Arg505Gly) rs45517179
NM_000548.4(TSC2):c.1514G>A (p.Arg505Gln) rs376285784
NM_000548.4(TSC2):c.152A>C (p.Glu51Ala) rs772617064
NM_000548.4(TSC2):c.153A>C (p.Glu51Asp)
NM_000548.4(TSC2):c.1564C>T (p.His522Tyr) rs397514991
NM_000548.4(TSC2):c.1567C>T (p.His523Tyr)
NM_000548.4(TSC2):c.1588A>G (p.Ile530Val) rs786203470
NM_000548.4(TSC2):c.1599+9_1599+34dup rs1555502601
NM_000548.4(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.4(TSC2):c.1603A>T (p.Met535Leu)
NM_000548.4(TSC2):c.1609C>A (p.Arg537Ser) rs142257684
NM_000548.4(TSC2):c.1610G>T (p.Arg537Leu)
NM_000548.4(TSC2):c.1613C>T (p.Ser538Phe) rs201334685
NM_000548.4(TSC2):c.1622C>A (p.Pro541Gln) rs752953762
NM_000548.4(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.4(TSC2):c.1625C>G (p.Pro542Arg) rs764191178
NM_000548.4(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.4(TSC2):c.1627C>T (p.Pro543Ser) rs1060500944
NM_000548.4(TSC2):c.1629G>A (p.Pro543=) rs750309571
NM_000548.4(TSC2):c.1643G>C (p.Arg548Thr) rs748938385
NM_000548.4(TSC2):c.1646A>G (p.Asp549Gly) rs1170792905
NM_000548.4(TSC2):c.164A>G (p.Asn55Ser) rs1555495709
NM_000548.4(TSC2):c.1651G>T (p.Ala551Ser) rs149877669
NM_000548.4(TSC2):c.1655C>T (p.Ala552Val) rs1555503231
NM_000548.4(TSC2):c.1658A>G (p.Tyr553Cys)
NM_000548.4(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.4(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.4(TSC2):c.1690G>A (p.Val564Ile) rs147072281
NM_000548.4(TSC2):c.1693C>G (p.Leu565Val) rs878854078
NM_000548.4(TSC2):c.169C>T (p.Arg57Cys) rs1430159201
NM_000548.4(TSC2):c.16A>G (p.Ser6Gly) rs1555494544
NM_000548.4(TSC2):c.170G>A (p.Arg57His) rs397514949
NM_000548.4(TSC2):c.1718C>T (p.Thr573Ile) rs773304374
NM_000548.4(TSC2):c.1721A>G (p.Lys574Arg) rs1060500926
NM_000548.4(TSC2):c.1724T>C (p.Leu575Pro)
NM_000548.4(TSC2):c.1730C>T (p.Thr577Ile) rs770895919
NM_000548.4(TSC2):c.1739C>G (p.Ala580Gly) rs765043471
NM_000548.4(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.4(TSC2):c.1751C>T (p.Thr584Met) rs751147419
NM_000548.4(TSC2):c.1753C>T (p.Arg585Cys) rs370324876
NM_000548.4(TSC2):c.1754G>A (p.Arg585His) rs397515063
NM_000548.4(TSC2):c.1759T>C (p.Tyr587His) rs1555505094
NM_000548.4(TSC2):c.1765A>G (p.Met589Val)
NM_000548.4(TSC2):c.176G>C (p.Arg59Pro) rs1161261925
NM_000548.4(TSC2):c.1771G>A (p.Val591Ile) rs984275273
NM_000548.4(TSC2):c.1774A>G (p.Ser592Gly) rs910068556
NM_000548.4(TSC2):c.1775G>A (p.Ser592Asn) rs374371998
NM_000548.4(TSC2):c.1777C>T (p.His593Tyr) rs1555505123
NM_000548.4(TSC2):c.1780A>G (p.Ile594Val) rs1555505128
NM_000548.4(TSC2):c.1783C>G (p.Gln595Glu) rs45517199
NM_000548.4(TSC2):c.1798C>T (p.His600Tyr) rs775390128
NM_000548.4(TSC2):c.1807A>G (p.Thr603Ala) rs876660140
NM_000548.4(TSC2):c.1813C>G (p.Pro605Ala) rs1295352648
NM_000548.4(TSC2):c.1814C>T (p.Pro605Leu) rs1555505178
NM_000548.4(TSC2):c.1820C>A (p.Ala607Glu) rs397515296
NM_000548.4(TSC2):c.1823G>C (p.Ser608Thr) rs753235037
NM_000548.4(TSC2):c.1839+4T>C rs1246472342
NM_000548.4(TSC2):c.1839+5G>C
NM_000548.4(TSC2):c.1840-3C>T rs397515154
NM_000548.4(TSC2):c.1840-6T>G
NM_000548.4(TSC2):c.1840-7C>G
NM_000548.4(TSC2):c.1840G>C (p.Ala614Pro) rs397515199
NM_000548.4(TSC2):c.1859T>C (p.Leu620Pro)
NM_000548.4(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.4(TSC2):c.1870G>A (p.Asp624Asn)
NM_000548.4(TSC2):c.1874C>T (p.Ser625Leu) rs368285556
NM_000548.4(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.4(TSC2):c.1883G>A (p.Arg628His) rs774895427
NM_000548.4(TSC2):c.1903G>A (p.Asp635Asn) rs1060500932
NM_000548.4(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.4(TSC2):c.1912G>C (p.Val638Leu)
NM_000548.4(TSC2):c.1924C>A (p.Pro642Thr)
NM_000548.4(TSC2):c.1925C>G (p.Pro642Arg)
NM_000548.4(TSC2):c.1930T>G (p.Cys644Gly)
NM_000548.4(TSC2):c.193T>C (p.Cys65Arg) rs1060500965
NM_000548.4(TSC2):c.1945A>G (p.Met649Val) rs762331610
NM_000548.4(TSC2):c.1946+4C>T rs752017577
NM_000548.4(TSC2):c.1946+5G>A rs766646261
NM_000548.4(TSC2):c.1946+5G>T rs766646261
NM_000548.4(TSC2):c.1946+6C>A rs754069880
NM_000548.4(TSC2):c.1946+6C>G
NM_000548.4(TSC2):c.1946+9G>T rs1470276886
NM_000548.4(TSC2):c.1964C>T (p.Ser655Phe) rs1442388532
NM_000548.4(TSC2):c.1973_1975delAGA (p.Lys658del) rs137854104
NM_000548.4(TSC2):c.1979G>A (p.Ser660Asn) rs754504918
NM_000548.4(TSC2):c.1984C>G (p.Pro662Ala)
NM_000548.4(TSC2):c.1987C>T (p.Leu663Phe) rs747516623
NM_000548.4(TSC2):c.1988T>G (p.Leu663Arg) rs1555506026
NM_000548.4(TSC2):c.1991C>A (p.Ser664Tyr) rs991714565
NM_000548.4(TSC2):c.1991C>G (p.Ser664Cys) rs991714565
NM_000548.4(TSC2):c.199G>A (p.Val67Ile) rs774506901
NM_000548.4(TSC2):c.2012G>A (p.Gly671Asp) rs775881847
NM_000548.4(TSC2):c.2013C>T (p.Gly671=) rs566848799
NM_000548.4(TSC2):c.2014C>G (p.Pro672Ala) rs1262368552
NM_000548.4(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.4(TSC2):c.2016G>A (p.Pro672=) rs774517903
NM_000548.4(TSC2):c.2016_2030dup (p.Ala678_Val679insProAlaGlyProAla)
NM_000548.4(TSC2):c.201_202delCGinsTC (p.Ala68Pro)
NM_000548.4(TSC2):c.2020C>T (p.Pro674Ser) rs760566516
NM_000548.4(TSC2):c.2023G>A (p.Ala675Thr) rs764840082
NM_000548.4(TSC2):c.2023G>T (p.Ala675Ser) rs764840082
NM_000548.4(TSC2):c.2023_2024delGCinsTT (p.Ala675Leu) rs1555506090
NM_000548.4(TSC2):c.2027G>T (p.Gly676Val) rs754556513
NM_000548.4(TSC2):c.202G>C (p.Ala68Pro)
NM_000548.4(TSC2):c.2030C>T (p.Pro677Leu) rs376974525
NM_000548.4(TSC2):c.2033C>G (p.Ala678Gly)
NM_000548.4(TSC2):c.2035G>A (p.Val679Met) rs746315218
NM_000548.4(TSC2):c.2038C>T (p.Arg680Trp) rs876658578
NM_000548.4(TSC2):c.2039G>A (p.Arg680Gln) rs756536921
NM_000548.4(TSC2):c.2039G>C (p.Arg680Pro) rs756536921
NM_000548.4(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.4(TSC2):c.2042T>A (p.Leu681Gln) rs878854079
NM_000548.4(TSC2):c.2044G>T (p.Gly682Trp)
NM_000548.4(TSC2):c.2045G>A (p.Gly682Glu)
NM_000548.4(TSC2):c.2047T>C (p.Ser683Pro) rs878854080
NM_000548.4(TSC2):c.2049_2050delCGinsTC (p.Val684Leu) rs1555506150
NM_000548.4(TSC2):c.205A>G (p.Lys69Glu) rs45517095
NM_000548.4(TSC2):c.2065C>T (p.Leu689Phe)
NM_000548.4(TSC2):c.2070C>A (p.Phe690Leu) rs558292668
NM_000548.4(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.4(TSC2):c.2072G>A (p.Arg691His)
NM_000548.4(TSC2):c.2074G>A (p.Val692Ile) rs201769220
NM_000548.4(TSC2):c.2074G>T (p.Val692Phe) rs201769220
NM_000548.4(TSC2):c.2097+4A>G
NM_000548.4(TSC2):c.2097+5G>C rs977777731
NM_000548.4(TSC2):c.2112G>C (p.Lys704Asn) rs1555506423
NM_000548.4(TSC2):c.2112G>T (p.Lys704Asn) rs1555506423
NM_000548.4(TSC2):c.2122C>A (p.Leu708Met)
NM_000548.4(TSC2):c.2125G>T (p.Val709Phe)
NM_000548.4(TSC2):c.2133C>T (p.Gly711=) rs1060500915
NM_000548.4(TSC2):c.2138T>C (p.Leu713Pro) rs1060500942
NM_000548.4(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.4(TSC2):c.2153G>A (p.Arg718His) rs45517215
NM_000548.4(TSC2):c.215A>G (p.Lys72Arg) rs1489623582
NM_000548.4(TSC2):c.2164C>T (p.Leu722Phe) rs1029969953
NM_000548.4(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.4(TSC2):c.2167A>T (p.Ile723Phe) rs764725850
NM_000548.4(TSC2):c.2174C>A (p.Thr725Asn)
NM_000548.4(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.4(TSC2):c.2188G>A (p.Val730Met) rs1555506559
NM_000548.4(TSC2):c.2209C>T (p.Leu737Phe)
NM_000548.4(TSC2):c.2218A>G (p.Met740Val)
NM_000548.4(TSC2):c.2219T>C (p.Met740Thr)
NM_000548.4(TSC2):c.2220+4C>G rs781186613
NM_000548.4(TSC2):c.2221-3C>G rs1555506834
NM_000548.4(TSC2):c.2225C>T (p.Ser742Leu) rs45517220
NM_000548.4(TSC2):c.2227G>A (p.Gly743Ser) rs1555506852
NM_000548.4(TSC2):c.2231C>G (p.Pro744Arg) rs774759789
NM_000548.4(TSC2):c.2242G>A (p.Glu748Lys)
NM_000548.4(TSC2):c.225+3A>G rs1060500963
NM_000548.4(TSC2):c.225+4G>A rs201901739
NM_000548.4(TSC2):c.225+5G>T rs778371172
NM_000548.4(TSC2):c.2252G>A (p.Arg751Gln) rs749593050
NM_000548.4(TSC2):c.2256C>T (p.Gly752=) rs778981034
NM_000548.4(TSC2):c.2257G>A (p.Ala753Thr) rs574205203
NM_000548.4(TSC2):c.2279C>T (p.Thr760Ile) rs1060500920
NM_000548.4(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.4(TSC2):c.2294C>T (p.Ala765Val) rs886042145
NM_000548.4(TSC2):c.2297T>C (p.Val766Ala) rs780682938
NM_000548.4(TSC2):c.229G>A (p.Ala77Thr)
NM_000548.4(TSC2):c.2303C>T (p.Pro768Leu) rs1555506977
NM_000548.4(TSC2):c.2308C>A (p.Leu770Met) rs762215859
NM_000548.4(TSC2):c.2311A>T (p.Thr771Ser) rs1555506986
NM_000548.4(TSC2):c.2312C>G (p.Thr771Arg)
NM_000548.4(TSC2):c.2312C>T (p.Thr771Ile) rs886051790
NM_000548.4(TSC2):c.2315C>T (p.Ala772Val) rs397514984
NM_000548.4(TSC2):c.2319A>C (p.Leu773Phe)
NM_000548.4(TSC2):c.2332A>G (p.Asn778Asp) rs1060500946
NM_000548.4(TSC2):c.2336A>T (p.Tyr779Phe)
NM_000548.4(TSC2):c.2351A>C (p.Lys784Thr) rs1489548085
NM_000548.4(TSC2):c.2355+5G>A rs756995937
NM_000548.4(TSC2):c.2355+6A>T rs904030973
NM_000548.4(TSC2):c.2364G>A (p.Met788Ile) rs773786955
NM_000548.4(TSC2):c.2365G>A (p.Val789Ile) rs779472379
NM_000548.4(TSC2):c.2366T>C (p.Val789Ala)
NM_000548.4(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.4(TSC2):c.2372G>T (p.Cys791Phe) rs758961134
NM_000548.4(TSC2):c.237A>T (p.Glu79Asp)
NM_000548.4(TSC2):c.2384G>A (p.Gly795Asp) rs1555507503
NM_000548.4(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255
NM_000548.4(TSC2):c.2396G>A (p.Arg799His)
NM_000548.4(TSC2):c.2399G>A (p.Cys800Tyr) rs746044783
NM_000548.4(TSC2):c.2405G>A (p.Ser802Asn)
NM_000548.4(TSC2):c.2409G>T (p.Gln803His)
NM_000548.4(TSC2):c.2413G>A (p.Val805Ile)
NM_000548.4(TSC2):c.2416G>A (p.Val806Met) rs796053473
NM_000548.4(TSC2):c.2437G>A (p.Val813Met) rs375030314
NM_000548.4(TSC2):c.2446C>G (p.Pro816Ala) rs760265207
NM_000548.4(TSC2):c.244T>C (p.Trp82Arg) rs878854083
NM_000548.4(TSC2):c.2465C>T (p.Ala822Val) rs936484229
NM_000548.4(TSC2):c.2473G>A (p.Val825Ile)
NM_000548.4(TSC2):c.2473G>C (p.Val825Leu) rs149860212
NM_000548.4(TSC2):c.2482G>A (p.Val828Met)
NM_000548.4(TSC2):c.2510C>G (p.Ala837Gly) rs139919040
NM_000548.4(TSC2):c.2534A>G (p.Glu845Gly) rs764608837
NM_000548.4(TSC2):c.2543C>G (p.Ser848Cys) rs1060500922
NM_000548.4(TSC2):c.2560C>G (p.Pro854Ala) rs1060500959
NM_000548.4(TSC2):c.2560C>T (p.Pro854Ser) rs1060500959
NM_000548.4(TSC2):c.2561C>T (p.Pro854Leu) rs1180511535
NM_000548.4(TSC2):c.256G>A (p.Ala86Thr)
NM_000548.4(TSC2):c.2570A>G (p.Tyr857Cys) rs878854084
NM_000548.4(TSC2):c.2576A>C (p.Asn859Thr) rs878854085
NM_000548.4(TSC2):c.257C>T (p.Ala86Val)
NM_000548.4(TSC2):c.2586G>A (p.Ala862=) rs752865665
NM_000548.4(TSC2):c.2608G>T (p.Ala870Ser) rs1060500975
NM_000548.4(TSC2):c.2630A>G (p.Asn877Ser)
NM_000548.4(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.4(TSC2):c.2633C>A (p.Pro878His) rs1060500925
NM_000548.4(TSC2):c.2636C>T (p.Ser879Phe) rs1555508444
NM_000548.4(TSC2):c.2647C>G (p.Gln883Glu) rs45476100
NM_000548.4(TSC2):c.2653A>G (p.Ile885Val) rs1555508581
NM_000548.4(TSC2):c.2656G>T (p.Val886Leu) rs999523698
NM_000548.4(TSC2):c.2665G>A (p.Ala889Thr) rs397515054
NM_000548.4(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.4(TSC2):c.2668C>T (p.His890Tyr) rs145258407
NM_000548.4(TSC2):c.2674G>A (p.Val892Ile) rs376801256
NM_000548.4(TSC2):c.2681C>T (p.Ala894Val) rs777282955
NM_000548.4(TSC2):c.2686T>C (p.Trp896Arg)
NM_000548.4(TSC2):c.2701C>T (p.Arg901Cys) rs796053512
NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.4(TSC2):c.2719G>T (p.Asp907Tyr) rs1287273870
NM_000548.4(TSC2):c.271C>A (p.Pro91Thr) rs1555496979
NM_000548.4(TSC2):c.271C>T (p.Pro91Ser) rs1555496979
NM_000548.4(TSC2):c.2740A>C (p.Lys914Gln) rs1422374195
NM_000548.4(TSC2):c.2742+3G>A rs373935836
NM_000548.4(TSC2):c.2742+6C>T rs377568673
NM_000548.4(TSC2):c.2743-17_2743-10del rs1555508844
NM_000548.4(TSC2):c.2749C>T (p.Arg917Trp) rs781587135
NM_000548.4(TSC2):c.2750G>C (p.Arg917Pro) rs397515046
NM_000548.4(TSC2):c.2759T>C (p.Val920Ala) rs749383639
NM_000548.4(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.4(TSC2):c.277C>T (p.Arg93Trp) rs760688660
NM_000548.4(TSC2):c.2787G>T (p.Glu929Asp)
NM_000548.4(TSC2):c.2788_2790delAAGinsGAC (p.Lys930Asp) rs1060500935
NM_000548.4(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.4(TSC2):c.2798T>G (p.Phe933Cys) rs45517269
NM_000548.4(TSC2):c.2804C>T (p.Ala935Val) rs1555508975
NM_000548.4(TSC2):c.2812A>C (p.Thr938Pro)
NM_000548.4(TSC2):c.281C>T (p.Pro94Leu) rs200045926
NM_000548.4(TSC2):c.2821A>G (p.Asn941Asp) rs878854087
NM_000548.4(TSC2):c.2825A>G (p.Glu942Gly) rs1018951391
NM_000548.4(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.4(TSC2):c.2837+4C>T rs544409858
NM_000548.4(TSC2):c.2837+5G>A rs786203791
NM_000548.4(TSC2):c.2838-3T>C rs553942147
NM_000548.4(TSC2):c.2838-7C>A rs752762518
NM_000548.4(TSC2):c.2840T>C (p.Leu947Pro) rs1555509447
NM_000548.4(TSC2):c.2843G>T (p.Arg948Met) rs1555509449
NM_000548.4(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.4(TSC2):c.2854C>T (p.Pro952Ser) rs745456980
NM_000548.4(TSC2):c.2868C>T (p.Gly956=)
NM_000548.4(TSC2):c.2872A>G (p.Asn958Asp)
NM_000548.4(TSC2):c.2877C>G (p.Asn959Lys)
NM_000548.4(TSC2):c.2878T>G (p.Ser960Ala) rs1005027685
NM_000548.4(TSC2):c.2896T>C (p.Phe966Leu)
NM_000548.4(TSC2):c.2902_2907delGAGAGC (p.Glu968_Ser969del) rs1460562160
NM_000548.4(TSC2):c.2914G>A (p.Ala972Thr)
NM_000548.4(TSC2):c.2917G>C (p.Glu973Gln)
NM_000548.4(TSC2):c.2948C>G (p.Ser983Cys)
NM_000548.4(TSC2):c.2954A>G (p.His985Arg)
NM_000548.4(TSC2):c.2960T>G (p.Val987Gly)
NM_000548.4(TSC2):c.2962C>T (p.Arg988Cys) rs763047420
NM_000548.4(TSC2):c.2963G>A (p.Arg988His) rs397515306
NM_000548.4(TSC2):c.2965A>G (p.Ser989Gly)
NM_000548.4(TSC2):c.2966+4G>T rs1235253082
NM_000548.4(TSC2):c.2966+5C>T rs767328300
NM_000548.4(TSC2):c.2966+6G>A rs878854088
NM_000548.4(TSC2):c.2966G>C (p.Ser989Thr) rs1555509538
NM_000548.4(TSC2):c.2989A>G (p.Ser997Gly) rs1555510209
NM_000548.4(TSC2):c.3005C>T (p.Ser1002Phe)
NM_000548.4(TSC2):c.3007G>A (p.Ala1003Thr) rs1555510234
NM_000548.4(TSC2):c.301G>A (p.Val101Met) rs878854089
NM_000548.4(TSC2):c.3022G>A (p.Val1008Met) rs397514985
NM_000548.4(TSC2):c.3026C>T (p.Ala1009Val)
NM_000548.4(TSC2):c.3028C>G (p.Gln1010Glu) rs45514100
NM_000548.4(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.4(TSC2):c.3037G>A (p.Asp1013Asn) rs45517279
NM_000548.4(TSC2):c.3068C>T (p.Thr1023Met) rs1555510327
NM_000548.4(TSC2):c.3070G>A (p.Glu1024Lys) rs1060500960
NM_000548.4(TSC2):c.3088A>G (p.Met1030Val) rs754276150
NM_000548.4(TSC2):c.3089T>C (p.Met1030Thr)
NM_000548.4(TSC2):c.308C>T (p.Ala103Val) rs1555497043
NM_000548.4(TSC2):c.3095G>A (p.Arg1032Gln) rs45491698
NM_000548.4(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.4(TSC2):c.3114C>A (p.Phe1038Leu)
NM_000548.4(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.4(TSC2):c.3125C>G (p.Pro1042Arg)
NM_000548.4(TSC2):c.3131+3C>A rs1420280878
NM_000548.4(TSC2):c.3131+8C>T rs763702215
NM_000548.4(TSC2):c.3134C>G (p.Ser1045Cys)
NM_000548.4(TSC2):c.3136C>T (p.Pro1046Ser) rs774008119
NM_000548.4(TSC2):c.3155T>C (p.Leu1052Pro) rs878854091
NM_000548.4(TSC2):c.3159G>A (p.Ala1053=) rs765689518
NM_000548.4(TSC2):c.317A>C (p.Lys106Thr)
NM_000548.4(TSC2):c.3181C>G (p.Leu1061Val) rs946673791
NM_000548.4(TSC2):c.3181C>T (p.Leu1061=) rs946673791
NM_000548.4(TSC2):c.3182T>G (p.Leu1061Arg) rs397514919
NM_000548.4(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791
NM_000548.4(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.4(TSC2):c.3199G>C (p.Val1067Leu) rs200681169
NM_000548.4(TSC2):c.3202A>C (p.Thr1068Pro) rs1060500947
NM_000548.4(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.4(TSC2):c.3217G>A (p.Val1073Met) rs749192298
NM_000548.4(TSC2):c.3226G>A (p.Gly1076Arg) rs747910305
NM_000548.4(TSC2):c.322A>G (p.Ile108Val) rs955754399
NM_000548.4(TSC2):c.3232C>T (p.Arg1078Trp) rs78956195
NM_000548.4(TSC2):c.3233G>A (p.Arg1078Gln) rs368095502
NM_000548.4(TSC2):c.3235T>G (p.Ser1079Ala) rs1555510643
NM_000548.4(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.4(TSC2):c.3252C>G (p.Asp1084Glu) rs45517286
NM_000548.4(TSC2):c.3254C>T (p.Ser1085Leu) rs45517287
NM_000548.4(TSC2):c.3259G>A (p.Glu1087Lys)
NM_000548.4(TSC2):c.325G>A (p.Val109Met) rs369932305
NM_000548.4(TSC2):c.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.4(TSC2):c.3273C>T (p.Gly1091=) rs1060500971
NM_000548.4(TSC2):c.3284+6T>G rs375837026
NM_000548.4(TSC2):c.3285C>T (p.Ser1095=) rs745446277
NM_000548.4(TSC2):c.3286T>C (p.Ser1096Pro) rs755815612
NM_000548.4(TSC2):c.3290G>A (p.Ser1097Asn) rs1060500912
NM_000548.4(TSC2):c.3293C>G (p.Pro1098Arg) rs773545852
NM_000548.4(TSC2):c.3301C>T (p.His1101Tyr) rs1060500933
NM_000548.4(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.4(TSC2):c.3314C>T (p.Thr1105Ile)
NM_000548.4(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.4(TSC2):c.3325C>G (p.Pro1109Ala) rs1555510880
NM_000548.4(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.4(TSC2):c.3328G>A (p.Ala1110Thr)
NM_000548.4(TSC2):c.3329C>G (p.Ala1110Gly) rs1060500923
NM_000548.4(TSC2):c.3337G>A (p.Glu1113Lys)
NM_000548.4(TSC2):c.3344_3364dup (p.Ser1121_Arg1122insGlnAlaGlyGlnGlnValSer)
NM_000548.4(TSC2):c.3347C>G (p.Ala1116Gly) rs878854092
NM_000548.4(TSC2):c.3356A>G (p.Gln1119Arg)
NM_000548.4(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.4(TSC2):c.3358G>T (p.Val1120Leu)
NM_000548.4(TSC2):c.3368G>A (p.Gly1123Glu) rs1060500968
NM_000548.4(TSC2):c.337-3T>C rs770515822
NM_000548.4(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475
NM_000548.4(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874
NM_000548.4(TSC2):c.3385C>T (p.Arg1129Cys) rs1028039505
NM_000548.4(TSC2):c.3386G>A (p.Arg1129His) rs1412967226
NM_000548.4(TSC2):c.3391A>G (p.Met1131Val) rs775639244
NM_000548.4(TSC2):c.3395C>T (p.Ser1132Leu) rs137854074
NM_000548.4(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.4(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.4(TSC2):c.3397G>A (p.Gly1133Arg) rs1555511031
NM_000548.4(TSC2):c.3398-5_3398-3delTTC rs1060500917
NM_000548.4(TSC2):c.3398G>A (p.Gly1133Glu) rs1208166840
NM_000548.4(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.4(TSC2):c.3401G>A (p.Gly1134Asp)
NM_000548.4(TSC2):c.3404A>G (p.His1135Arg) rs1309968292
NM_000548.4(TSC2):c.340G>A (p.Glu114Lys) rs397515021
NM_000548.4(TSC2):c.3413G>T (p.Arg1138Leu) rs143168379
NM_000548.4(TSC2):c.3415G>A (p.Val1139Ile) rs759174655
NM_000548.4(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.4(TSC2):c.3428A>T (p.Asp1143Val) rs796053495
NM_000548.4(TSC2):c.342G>C (p.Glu114Asp) rs1555497542
NM_000548.4(TSC2):c.3435G>A (p.Pro1145=) rs749633483
NM_000548.4(TSC2):c.3440C>T (p.Ser1147Phe)
NM_000548.4(TSC2):c.344G>A (p.Arg115His) rs764529584
NM_000548.4(TSC2):c.3464C>T (p.Ser1155Phe) rs1060500948
NM_000548.4(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.4(TSC2):c.3472C>T (p.Pro1158Ser) rs759350468
NM_000548.4(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.4(TSC2):c.3476G>T (p.Arg1159Leu) rs45473098
NM_000548.4(TSC2):c.3484C>G (p.Pro1162Ala)
NM_000548.4(TSC2):c.3484C>T (p.Pro1162Ser) rs895935495
NM_000548.4(TSC2):c.3487G>T (p.Ala1163Ser)
NM_000548.4(TSC2):c.3490G>A (p.Ala1164Thr)
NM_000548.4(TSC2):c.3495A>T (p.Lys1165Asn) rs1555511443
NM_000548.4(TSC2):c.3509C>T (p.Ser1170Leu) rs45517296
NM_000548.4(TSC2):c.3515G>A (p.Gly1172Asp)
NM_000548.4(TSC2):c.3526C>T (p.Pro1176Ser) rs1326077397
NM_000548.4(TSC2):c.352G>A (p.Val118Ile)
NM_000548.4(TSC2):c.352G>T (p.Val118Phe) rs878854094
NM_000548.4(TSC2):c.3530T>A (p.Val1177Glu)
NM_000548.4(TSC2):c.3535_3537delGAG (p.Glu1179del) rs1060500937
NM_000548.4(TSC2):c.3538A>G (p.Lys1180Glu)
NM_000548.4(TSC2):c.3551C>A (p.Ala1184Glu) rs1060500939
NM_000548.4(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939
NM_000548.4(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.4(TSC2):c.356T>G (p.Leu119Arg) rs1477548902
NM_000548.4(TSC2):c.3584C>T (p.Ala1195Val) rs773951533
NM_000548.4(TSC2):c.3609A>G (p.Thr1203=)
NM_000548.4(TSC2):c.3610+4C>T rs201978396
NM_000548.4(TSC2):c.3611-6C>T rs989103352
NM_000548.4(TSC2):c.3638A>T (p.Glu1213Val) rs1555512322
NM_000548.4(TSC2):c.3643C>G (p.Pro1215Ala) rs1555512332
NM_000548.4(TSC2):c.3644C>T (p.Pro1215Leu) rs933257311
NM_000548.4(TSC2):c.3663G>A (p.Ser1221=) rs137854268
NM_000548.4(TSC2):c.3676A>G (p.Met1226Val) rs769283410
NM_000548.4(TSC2):c.3679C>T (p.Pro1227Ser) rs1555512392
NM_000548.4(TSC2):c.3686A>G (p.Gln1229Arg) rs1060500962
NM_000548.4(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876
NM_000548.4(TSC2):c.369C>G (p.Phe123Leu)
NM_000548.4(TSC2):c.369_371del (p.Phe124del) rs1342475885
NM_000548.4(TSC2):c.3707T>C (p.Met1236Thr)
NM_000548.4(TSC2):c.3718C>T (p.Arg1240Cys) rs137854353
NM_000548.4(TSC2):c.3730C>T (p.His1244Tyr) rs993614997
NM_000548.4(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742
NM_000548.4(TSC2):c.3739A>G (p.Thr1247Ala) rs369961807
NM_000548.4(TSC2):c.3743C>T (p.Ala1248Val) rs745342041
NM_000548.4(TSC2):c.374A>G (p.Lys125Arg) rs767059758
NM_000548.4(TSC2):c.3753G>T (p.Lys1251Asn)
NM_000548.4(TSC2):c.375G>A (p.Lys125=)
NM_000548.4(TSC2):c.3773C>G (p.Ala1258Gly) rs1060500958
NM_000548.4(TSC2):c.3785A>G (p.Lys1262Arg) rs765255206
NM_000548.4(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347
NM_000548.4(TSC2):c.3809A>G (p.Asn1270Ser) rs1304251276
NM_000548.4(TSC2):c.3812C>T (p.Thr1271Ile)
NM_000548.4(TSC2):c.3813A>G (p.Thr1271=) rs1555512577
NM_000548.4(TSC2):c.3814+5G>A rs1555512582
NM_000548.4(TSC2):c.3815-2A>T
NM_000548.4(TSC2):c.3815-3C>G rs770054036
NM_000548.4(TSC2):c.3816G>A (p.Val1272=) rs45517314
NM_000548.4(TSC2):c.3818C>T (p.Ala1273Val) rs749367382
NM_000548.4(TSC2):c.3825C>A (p.Phe1275Leu)
NM_000548.4(TSC2):c.3837C>G (p.Tyr1279Ter) rs1555512861
NM_000548.4(TSC2):c.3840G>C (p.Gln1280His) rs1060500941
NM_000548.4(TSC2):c.3841T>G (p.Ser1281Ala)
NM_000548.4(TSC2):c.384G>T (p.Lys128Asn)
NM_000548.4(TSC2):c.3850C>T (p.Gln1284Ter) rs753308966
NM_000548.4(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159
NM_000548.4(TSC2):c.385G>T (p.Asp129Tyr) rs771961048
NM_000548.4(TSC2):c.3863A>C (p.His1288Pro)
NM_000548.4(TSC2):c.3866G>A (p.Arg1289Lys)
NM_000548.4(TSC2):c.3867_3869del (p.Arg1289del)
NM_000548.4(TSC2):c.386A>T (p.Asp129Val) rs1555497612
NM_000548.4(TSC2):c.3870C>G (p.Ser1290Arg) rs754466663
NM_000548.4(TSC2):c.3871G>T (p.Val1291Phe)
NM_000548.4(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.4(TSC2):c.3883+5C>T rs45448994
NM_000548.4(TSC2):c.3887C>A (p.Ser1296Tyr)
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.4(TSC2):c.3893T>C (p.Val1298Ala)
NM_000548.4(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.4(TSC2):c.3903G>T (p.Glu1301Asp)
NM_000548.4(TSC2):c.3910A>T (p.Ser1304Cys)
NM_000548.4(TSC2):c.391C>A (p.Pro131Thr) rs777398393
NM_000548.4(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262
NM_000548.4(TSC2):c.3940C>T (p.Pro1314Ser)
NM_000548.4(TSC2):c.3944C>T (p.Pro1315Leu)
NM_000548.4(TSC2):c.3946G>A (p.Gly1316Arg) rs1555513510
NM_000548.4(TSC2):c.3947G>C (p.Gly1316Ala) rs1555513513
NM_000548.4(TSC2):c.394T>C (p.Ser132Pro)
NM_000548.4(TSC2):c.3952G>A (p.Glu1318Lys) rs1064793797
NM_000548.4(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.4(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.4(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737
NM_000548.4(TSC2):c.3964G>A (p.Ala1322Thr)
NM_000548.4(TSC2):c.3965C>T (p.Ala1322Val) rs1380402492
NM_000548.4(TSC2):c.3971T>C (p.Leu1324Pro) rs878854098
NM_000548.4(TSC2):c.3985C>T (p.Arg1329Cys) rs747695245
NM_000548.4(TSC2):c.3988A>G (p.Thr1330Ala) rs1555513561
NM_000548.4(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462
NM_000548.4(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.4(TSC2):c.4001G>A (p.Ser1334Asn) rs1060500964
NM_000548.4(TSC2):c.4002C>T (p.Ser1334=) rs1060500911
NM_000548.4(TSC2):c.4004G>C (p.Arg1335Thr) rs1403658994
NM_000548.4(TSC2):c.4006-4C>G rs772258522
NM_000548.4(TSC2):c.4006-6T>C rs1060500953
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.4(TSC2):c.400G>A (p.Glu134Lys) rs1555497641
NM_000548.4(TSC2):c.4010C>A (p.Ser1337Tyr)
NM_000548.4(TSC2):c.4019C>T (p.Ser1340Phe) rs753656246
NM_000548.4(TSC2):c.4025A>G (p.Gln1342Arg) rs1060500951
NM_000548.4(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.4(TSC2):c.4034A>T (p.Lys1345Met) rs1302353294
NM_000548.4(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326
NM_000548.4(TSC2):c.4040T>C (p.Leu1347Pro) rs1221929408
NM_000548.4(TSC2):c.4051G>A (p.Glu1351Lys) rs878854101
NM_000548.4(TSC2):c.4061G>A (p.Gly1354Asp) rs878854102
NM_000548.4(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.4(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864
NM_000548.4(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.4(TSC2):c.4070T>A (p.Ile1357Asn) rs878854103
NM_000548.4(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.4(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104
NM_000548.4(TSC2):c.4078G>A (p.Glu1360Lys) rs397514997
NM_000548.4(TSC2):c.4082G>A (p.Arg1361Gln)
NM_000548.4(TSC2):c.4090_4091delTCinsGT (p.Ser1364Val) rs1060500956
NM_000548.4(TSC2):c.4092_4094del (p.Ser1365del)
NM_000548.4(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.4(TSC2):c.4112C>G (p.Ser1371Cys) rs1060500929
NM_000548.4(TSC2):c.4124C>T (p.Ser1375Phe)
NM_000548.4(TSC2):c.4132C>G (p.Pro1378Ala) rs1060500921
NM_000548.4(TSC2):c.4140_4166dup (p.Pro1389_Glu1390insProLeuSerLysSerSerSerSerPro) rs1555514052
NM_000548.4(TSC2):c.4142C>A (p.Pro1381His)
NM_000548.4(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
NM_000548.4(TSC2):c.4157G>A (p.Ser1386Asn) rs1555514071
NM_000548.4(TSC2):c.4168G>A (p.Glu1390Lys) rs397515033
NM_000548.4(TSC2):c.4176G>C (p.Gln1392His) rs749930791
NM_000548.4(TSC2):c.418C>T (p.Leu140=) rs1555497657
NM_000548.4(TSC2):c.4201C>G (p.Pro1401Ala) rs778147657
NM_000548.4(TSC2):c.4220T>G (p.Val1407Gly) rs1555514182
NM_000548.4(TSC2):c.4220_4222delTGG (p.Val1407del) rs1264774699
NM_000548.4(TSC2):c.4225C>G (p.Arg1409Gly) rs45517333
NM_000548.4(TSC2):c.4232G>A (p.Ser1411Asn)
NM_000548.4(TSC2):c.4249C>T (p.Arg1417Trp) rs774338461
NM_000548.4(TSC2):c.4250G>A (p.Arg1417Gln) rs1343536158
NM_000548.4(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546
NM_000548.4(TSC2):c.4257G>C (p.Gln1419His) rs1403321543
NM_000548.4(TSC2):c.4262G>A (p.Gly1421Glu)
NM_000548.4(TSC2):c.4263G>T (p.Gly1421=) rs772862165
NM_000548.4(TSC2):c.4265C>T (p.Thr1422Ile) rs760230300
NM_000548.4(TSC2):c.4268T>C (p.Leu1423Pro)
NM_000548.4(TSC2):c.4271A>G (p.Asp1424Gly) rs876659933
NM_000548.4(TSC2):c.4273G>C (p.Gly1425Arg) rs763497329
NM_000548.4(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.4(TSC2):c.4292C>T (p.Ser1431Leu) rs375785710
NM_000548.4(TSC2):c.4300G>T (p.Gly1434Cys) rs1555514295
NM_000548.4(TSC2):c.4303G>A (p.Glu1435Lys)
NM_000548.4(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791
NM_000548.4(TSC2):c.431A>G (p.Lys144Arg) rs769286175
NM_000548.4(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392
NM_000548.4(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.4(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095
NM_000548.4(TSC2):c.4331C>T (p.Pro1444Leu)
NM_000548.4(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251
NM_000548.4(TSC2):c.4347_4355del (p.Arg1451_Pro1453del)
NM_000548.4(TSC2):c.4348C>G (p.Pro1450Ala) rs376381196
NM_000548.4(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.4(TSC2):c.4351C>A (p.Arg1451Ser) rs369553241
NM_000548.4(TSC2):c.4351C>G (p.Arg1451Gly) rs369553241
NM_000548.4(TSC2):c.4351C>T (p.Arg1451Cys) rs369553241
NM_000548.4(TSC2):c.4361G>A (p.Ser1454Asn)
NM_000548.4(TSC2):c.4362T>G (p.Ser1454Arg) rs1320400029
NM_000548.4(TSC2):c.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.4(TSC2):c.4370G>A (p.Arg1457Gln) rs1060500952
NM_000548.4(TSC2):c.4372C>A (p.Pro1458Thr) rs1189784704
NM_000548.4(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.4(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.4(TSC2):c.4403C>T (p.Pro1468Leu) rs762423563
NM_000548.4(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.4(TSC2):c.4410C>T (p.Arg1470=) rs539032553
NM_000548.4(TSC2):c.4418A>G (p.Lys1473Arg)
NM_000548.4(TSC2):c.4420A>G (p.Arg1474Gly) rs766719443
NM_000548.4(TSC2):c.4426G>C (p.Glu1476Gln)
NM_000548.4(TSC2):c.4430G>A (p.Arg1477Lys)
NM_000548.4(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343
NM_000548.4(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.4(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.4(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.4(TSC2):c.4454C>T (p.Thr1485Ile) rs772667717
NM_000548.4(TSC2):c.4457C>T (p.Ala1486Val) rs773527337
NM_000548.4(TSC2):c.445A>G (p.Asn149Asp) rs878854107
NM_000548.4(TSC2):c.4460C>G (p.Ser1487Cys)
NM_000548.4(TSC2):c.4463A>G (p.Asn1488Ser) rs999699219
NM_000548.4(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.4(TSC2):c.446A>G (p.Asn149Ser) rs1029118280
NM_000548.4(TSC2):c.4477C>G (p.Pro1493Ala) rs878854108
NM_000548.4(TSC2):c.4493+6C>T rs1555514697
NM_000548.4(TSC2):c.4494-10C>A
NM_000548.4(TSC2):c.4497C>G (p.Phe1499Leu)
NM_000548.4(TSC2):c.4508A>G (p.Gln1503Arg) rs45516293
NM_000548.4(TSC2):c.4516C>T (p.His1506Tyr) rs1173459869
NM_000548.4(TSC2):c.4520C>A (p.Ser1507Tyr) rs746246149
NM_000548.4(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.4(TSC2):c.4527C>G (p.Phe1509Leu) rs775919951
NM_000548.4(TSC2):c.4533C>T (p.Gly1511=) rs201126835
NM_000548.4(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486
NM_000548.4(TSC2):c.4537G>A (p.Glu1513Lys) rs767449740
NM_000548.4(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.4(TSC2):c.4552A>G (p.Ile1518Val) rs764903148
NM_000548.4(TSC2):c.4556T>C (p.Leu1519Pro) rs1555514956
NM_000548.4(TSC2):c.4562C>G (p.Pro1521Arg) rs1060500966
NM_000548.4(TSC2):c.4569+4G>A rs1051944517
NM_000548.4(TSC2):c.4569+6C>T rs756614796
NM_000548.4(TSC2):c.4572_4577dup (p.Ser1526_Phe1527insGlnSer) rs773676752
NM_000548.4(TSC2):c.4577C>A (p.Ser1526Tyr) rs796053498
NM_000548.4(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.4(TSC2):c.4589C>T (p.Ser1530Leu)
NM_000548.4(TSC2):c.4590G>A (p.Ser1530=) rs377377367
NM_000548.4(TSC2):c.4597C>T (p.Leu1533Phe)
NM_000548.4(TSC2):c.4603G>T (p.Asp1535Tyr) rs45517353
NM_000548.4(TSC2):c.4610T>C (p.Ile1537Thr)
NM_000548.4(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.4(TSC2):c.4613C>A (p.Pro1538Gln)
NM_000548.4(TSC2):c.461C>T (p.Thr154Ile) rs1215092245
NM_000548.4(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464
NM_000548.4(TSC2):c.4627C>T (p.His1543Tyr)
NM_000548.4(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.4(TSC2):c.4640T>A (p.Val1547Asp) rs397514988
NM_000548.4(TSC2):c.464A>G (p.Tyr155Cys) rs755177576
NM_000548.4(TSC2):c.4663-3C>T rs397514930
NM_000548.4(TSC2):c.4663A>T (p.Ser1555Cys) rs1555515982
NM_000548.4(TSC2):c.4667A>G (p.Asn1556Ser)
NM_000548.4(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.4(TSC2):c.4703C>G (p.Ser1568Cys) rs1555516036
NM_000548.4(TSC2):c.4705T>C (p.Tyr1569His)
NM_000548.4(TSC2):c.4711T>C (p.Tyr1571His) rs397514905
NM_000548.4(TSC2):c.4718A>G (p.Glu1573Gly)
NM_000548.4(TSC2):c.4738C>T (p.Arg1580Trp)
NM_000548.4(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.4(TSC2):c.4764G>C (p.Gln1588His) rs876659800
NM_000548.4(TSC2):c.476A>T (p.Glu159Val) rs1555497716
NM_000548.4(TSC2):c.479T>A (p.Leu160Gln) rs1555497725
NM_000548.4(TSC2):c.4822T>A (p.Tyr1608Asn) rs878854111
NM_000548.4(TSC2):c.4823A>G (p.Tyr1608Cys) rs759795928
NM_000548.4(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
NM_000548.4(TSC2):c.4849+4C>A rs370426490
NM_000548.4(TSC2):c.4849+5G>A
NM_000548.4(TSC2):c.484G>A (p.Asp162Asn) rs1257721773
NM_000548.4(TSC2):c.4850C>G (p.Ala1617Gly) rs1412545821
NM_000548.4(TSC2):c.4861A>T (p.Ile1621Phe) rs1555516628
NM_000548.4(TSC2):c.4867A>T (p.Thr1623Ser) rs749501410
NM_000548.4(TSC2):c.4880C>A (p.Thr1627Asn) rs1555438434
NM_000548.4(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.4(TSC2):c.4896G>C (p.Lys1632Asn) rs1555438475
NM_000548.4(TSC2):c.4904G>A (p.Cys1635Tyr) rs1555438494
NM_000548.4(TSC2):c.4914G>T (p.Lys1638Asn)
NM_000548.4(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551
NM_000548.4(TSC2):c.4942A>G (p.Ile1648Val) rs749554579
NM_000548.4(TSC2):c.4961G>T (p.Gly1654Val) rs1555438692
NM_000548.4(TSC2):c.4967A>G (p.Asp1656Gly)
NM_000548.4(TSC2):c.4973A>G (p.Lys1658Arg) rs1050594534
NM_000548.4(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.4(TSC2):c.4982C>A (p.Thr1661Asn) rs776541842
NM_000548.4(TSC2):c.4989+6_4989+9del rs1262967003
NM_000548.4(TSC2):c.4989G>A (p.Lys1663=)
NM_000548.4(TSC2):c.4990-5G>T rs753000765
NM_000548.4(TSC2):c.4990-6G>T rs137853987
NM_000548.4(TSC2):c.4990-7C>G rs45457095
NM_000548.4(TSC2):c.4991_5020del (p.Gly1664_Thr1674delinsAla) rs1555439653
NM_000548.4(TSC2):c.4999A>G (p.Asn1667Asp)
NM_000548.4(TSC2):c.499T>C (p.Trp167Arg) rs1555498118
NM_000548.4(TSC2):c.5000A>G (p.Asn1667Ser)
NM_000548.4(TSC2):c.5003T>C (p.Phe1668Ser) rs1555439678
NM_000548.4(TSC2):c.5004T>G (p.Phe1668Leu)
NM_000548.4(TSC2):c.5014A>G (p.Ile1672Val) rs374066182
NM_000548.4(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.4(TSC2):c.5021C>G (p.Thr1674Ser) rs1555439727
NM_000548.4(TSC2):c.5021C>T (p.Thr1674Ile) rs1555439727
NM_000548.4(TSC2):c.5029G>A (p.Asp1677Asn)
NM_000548.4(TSC2):c.5036A>C (p.Glu1679Ala)
NM_000548.4(TSC2):c.503T>C (p.Met168Thr) rs1555498124
NM_000548.4(TSC2):c.5040C>T (p.Cys1680=) rs139591455
NM_000548.4(TSC2):c.5049G>T (p.Val1683=)
NM_000548.4(TSC2):c.504G>T (p.Met168Ile)
NM_000548.4(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
NM_000548.4(TSC2):c.5058G>C (p.Gln1686His) rs200700923
NM_000548.4(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.4(TSC2):c.5069-4C>T rs1555440004
NM_000548.4(TSC2):c.5069-5C>T
NM_000548.4(TSC2):c.5069-6C>T
NM_000548.4(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.4(TSC2):c.5076G>C (p.Glu1692Asp) rs1358186613
NM_000548.4(TSC2):c.5086G>T (p.Asp1696Tyr) rs1555440048
NM_000548.4(TSC2):c.5093G>C (p.Ser1698Thr)
NM_000548.4(TSC2):c.5095G>A (p.Val1699Met) rs370864445
NM_000548.4(TSC2):c.5106C>G (p.Ile1702Met) rs45483700
NM_000548.4(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.4(TSC2):c.5115C>A (p.Asp1705Glu) rs1385591764
NM_000548.4(TSC2):c.5119A>C (p.Asn1707His) rs1300582033
NM_000548.4(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098
NM_000548.4(TSC2):c.5131G>C (p.Val1711Leu) rs139779505
NM_000548.4(TSC2):c.5135C>T (p.Ala1712Val)
NM_000548.4(TSC2):c.5137C>T (p.Arg1713Cys) rs759420443
NM_000548.4(TSC2):c.5150T>G (p.Leu1717Arg)
NM_000548.4(TSC2):c.5152C>G (p.His1718Asp)
NM_000548.4(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500
NM_000548.4(TSC2):c.5158A>G (p.Asn1720Asp) rs1555440225
NM_000548.4(TSC2):c.5160+3G>A
NM_000548.4(TSC2):c.5160+6T>C
NM_000548.4(TSC2):c.5160T>C (p.Asn1720=) rs137854883
NM_000548.4(TSC2):c.5161-5C>A
NM_000548.4(TSC2):c.5161-9C>A rs45515893
NM_000548.4(TSC2):c.5161A>G (p.Met1721Val) rs45517407
NM_000548.4(TSC2):c.5165C>T (p.Ala1722Val)
NM_000548.4(TSC2):c.5176C>T (p.His1726Tyr) rs761618860
NM_000548.4(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.4(TSC2):c.5193C>A (p.Asn1731Lys) rs753336580
NM_000548.4(TSC2):c.5194C>G (p.Pro1732Ala)
NM_000548.4(TSC2):c.5195C>G (p.Pro1732Arg) rs1446388626
NM_000548.4(TSC2):c.5197_5202delACCGATinsGAC (p.Thr1733del) rs1064792922
NM_000548.4(TSC2):c.5199C>A (p.Thr1733=) rs778378296
NM_000548.4(TSC2):c.5201A>C (p.Asp1734Ala) rs878854117
NM_000548.4(TSC2):c.5201A>G (p.Asp1734Gly) rs878854117
NM_000548.4(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.4(TSC2):c.5203A>G (p.Ile1735Val) rs781407050
NM_000548.4(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.4(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176
NM_000548.4(TSC2):c.521C>T (p.Ser174Leu) rs747538587
NM_000548.4(TSC2):c.5222T>C (p.Ile1741Thr)
NM_000548.4(TSC2):c.5234G>A (p.Arg1745His) rs766093661
NM_000548.4(TSC2):c.523G>A (p.Glu175Lys) rs1555498151
NM_000548.4(TSC2):c.5240_5242dup (p.Ile1747_Lys1748insIle) rs1555440757
NM_000548.4(TSC2):c.5246G>A (p.Arg1749Gln) rs1555440785
NM_000548.4(TSC2):c.5252G>A (p.Arg1751His) rs373365980
NM_000548.4(TSC2):c.5252G>C (p.Arg1751Pro)
NM_000548.4(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414
NM_000548.4(TSC2):c.5257C>T (p.Arg1753Trp)
NM_000548.4(TSC2):c.5259+3A>C rs1555440897
NM_000548.4(TSC2):c.5259+6G>A rs1555440900
NM_000548.4(TSC2):c.5259G>A (p.Arg1753=) rs1060500945
NM_000548.4(TSC2):c.5260-10_5278del rs756272343
NM_000548.4(TSC2):c.5260-7_5260-5delinsGTGC
NM_000548.4(TSC2):c.5260-9_5279del29 rs967037646
NM_000548.4(TSC2):c.5264G>T (p.Cys1755Phe) rs761162904
NM_000548.4(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.4(TSC2):c.5271A>C (p.Glu1757Asp) rs1060500967
NM_000548.4(TSC2):c.5279A>C (p.Tyr1760Ser)
NM_000548.4(TSC2):c.5284A>G (p.Asn1762Asp)
NM_000548.4(TSC2):c.5288C>G (p.Pro1763Arg) rs781139561
NM_000548.4(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802
NM_000548.4(TSC2):c.5293C>A (p.Leu1765Ile)
NM_000548.4(TSC2):c.5293C>G (p.Leu1765Val) rs1060500954
NM_000548.4(TSC2):c.5296C>T (p.Pro1766Ser) rs779621136
NM_000548.4(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.4(TSC2):c.5299C>G (p.Leu1767Val) rs1051758
NM_000548.4(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265
NM_000548.4(TSC2):c.5306A>G (p.His1769Arg)
NM_000548.4(TSC2):c.5312C>A (p.Pro1771Gln) rs137854214
NM_000548.4(TSC2):c.5314T>G (p.Ser1772Ala) rs1060500973
NM_000548.4(TSC2):c.5320A>G (p.Ser1774Gly) rs368083145
NM_000548.4(TSC2):c.5329C>T (p.Pro1777Ser)
NM_000548.4(TSC2):c.5330C>G (p.Pro1777Arg) rs1555441353
NM_000548.4(TSC2):c.5332G>A (p.Ala1778Thr)
NM_000548.4(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.4(TSC2):c.5338A>C (p.Thr1780Pro) rs989487316
NM_000548.4(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191
NM_000548.4(TSC2):c.5341C>G (p.Pro1781Ala) rs1555441410
NM_000548.4(TSC2):c.5344G>T (p.Ala1782Ser)
NM_000548.4(TSC2):c.5348A>G (p.Glu1783Gly) rs1555441444
NM_000548.4(TSC2):c.5353A>T (p.Thr1785Ser) rs1555441455
NM_000548.4(TSC2):c.5356C>T (p.Pro1786Ser)
NM_000548.4(TSC2):c.535G>A (p.Val179Met) rs777105764
NM_000548.4(TSC2):c.5362T>C (p.Tyr1788His) rs904411432
NM_000548.4(TSC2):c.5362T>G (p.Tyr1788Asp)
NM_000548.4(TSC2):c.5367G>C (p.Glu1789Asp)
NM_000548.4(TSC2):c.5374C>A (p.Gln1792Lys) rs201916931
NM_000548.4(TSC2):c.5378G>C (p.Arg1793Pro)
NM_000548.4(TSC2):c.5386C>T (p.Leu1796Phe)
NM_000548.4(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479
NM_000548.4(TSC2):c.538C>A (p.Leu180Met)
NM_000548.4(TSC2):c.5395T>C (p.Ser1799Pro) rs1231583517
NM_000548.4(TSC2):c.539T>G (p.Leu180Arg)
NM_000548.4(TSC2):c.5401G>A (p.Glu1801Lys)
NM_000548.4(TSC2):c.5403G>A (p.Glu1801=)
NM_000548.4(TSC2):c.5403G>T (p.Glu1801Asp) rs1060500918
NM_000548.4(TSC2):c.5416T>C (p.Phe1806Leu) rs1060500910
NM_000548.4(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126
NM_000548.4(TSC2):c.5422T>A (p.Ter1808Arg)
NM_000548.4(TSC2):c.549G>C (p.Leu183Phe) rs1415519717
NM_000548.4(TSC2):c.566G>A (p.Cys189Tyr) rs764218079
NM_000548.4(TSC2):c.571C>T (p.Leu191Phe) rs1555498201
NM_000548.4(TSC2):c.574G>A (p.Asp192Asn) rs1284679649
NM_000548.4(TSC2):c.577G>A (p.Glu193Lys) rs45517112
NM_000548.4(TSC2):c.585C>G (p.Ile195Met)
NM_000548.4(TSC2):c.596T>C (p.Val199Ala) rs1555498243
NM_000548.4(TSC2):c.599+3A>G rs397514899
NM_000548.4(TSC2):c.603G>C (p.Met201Ile) rs45506197
NM_000548.4(TSC2):c.622C>T (p.Arg208Trp) rs374410454
NM_000548.4(TSC2):c.629C>T (p.Ala210Val) rs764925296
NM_000548.4(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.4(TSC2):c.637G>A (p.Val213Met) rs1060500927
NM_000548.4(TSC2):c.644T>C (p.Ile215Thr) rs1555498571
NM_000548.4(TSC2):c.649G>C (p.Val217Leu)
NM_000548.4(TSC2):c.658C>G (p.Gln220Glu)
NM_000548.4(TSC2):c.661G>A (p.Val221Met)
NM_000548.4(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.4(TSC2):c.673G>A (p.Val225Met) rs142919353
NM_000548.4(TSC2):c.673G>T (p.Val225Leu)
NM_000548.4(TSC2):c.686A>G (p.Asn229Ser) rs1555498800
NM_000548.4(TSC2):c.694C>T (p.Pro232Ser) rs751846529
NM_000548.4(TSC2):c.695C>T (p.Pro232Leu) rs760100924
NM_000548.4(TSC2):c.697G>T (p.Ala233Ser)
NM_000548.4(TSC2):c.698C>G (p.Ala233Gly) rs1555498839
NM_000548.4(TSC2):c.703A>G (p.Ser235Gly)
NM_000548.4(TSC2):c.70C>A (p.Pro24Thr)
NM_000548.4(TSC2):c.718A>T (p.Ile240Phe) rs796053482
NM_000548.4(TSC2):c.721G>C (p.Val241Leu) rs200943828
NM_000548.4(TSC2):c.727C>G (p.Leu243Val) rs796053502
NM_000548.4(TSC2):c.733C>G (p.Arg245Gly) rs375574283
NM_000548.4(TSC2):c.733C>T (p.Arg245Cys) rs375574283
NM_000548.4(TSC2):c.736A>G (p.Thr246Ala) rs137854123
NM_000548.4(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.4(TSC2):c.743A>T (p.Asn248Ile) rs762104739
NM_000548.4(TSC2):c.745G>A (p.Val249Ile)
NM_000548.4(TSC2):c.745G>C (p.Val249Leu)
NM_000548.4(TSC2):c.74G>A (p.Arg25Lys) rs759867905
NM_000548.4(TSC2):c.751G>A (p.Glu251Lys) rs1114167465
NM_000548.4(TSC2):c.754C>A (p.Leu252Ile)
NM_000548.4(TSC2):c.758G>T (p.Cys253Phe) rs766547457
NM_000548.4(TSC2):c.767G>T (p.Cys256Phe)
NM_000548.4(TSC2):c.774+4G>A rs1244859914
NM_000548.4(TSC2):c.775-10T>G rs1555499018
NM_000548.4(TSC2):c.781C>G (p.Arg261Gly) rs45517130
NM_000548.4(TSC2):c.793G>A (p.Gly265Ser)
NM_000548.4(TSC2):c.811A>G (p.Ser271Gly) rs1555499071
NM_000548.4(TSC2):c.814G>T (p.Ala272Ser)
NM_000548.4(TSC2):c.820T>G (p.Tyr274Asp) rs367642937
NM_000548.4(TSC2):c.827T>C (p.Met276Thr)
NM_000548.4(TSC2):c.828G>A (p.Met276Ile) rs1318274503
NM_000548.4(TSC2):c.831C>G (p.Cys277Trp) rs1057523424
NM_000548.4(TSC2):c.833A>G (p.His278Arg) rs397515266
NM_000548.4(TSC2):c.83C>A (p.Pro28His) rs1057522105
NM_000548.4(TSC2):c.846C>A (p.Asp282Glu) rs587778734
NM_000548.4(TSC2):c.848+5G>A rs1370989559
NM_000548.4(TSC2):c.849-3T>C rs45489591
NM_000548.4(TSC2):c.849-4T>C rs752614339
NM_000548.4(TSC2):c.857T>C (p.Met286Thr) rs45517136
NM_000548.4(TSC2):c.859G>A (p.Glu287Lys)
NM_000548.4(TSC2):c.862G>A (p.Asp288Asn) rs1555499648
NM_000548.4(TSC2):c.864C>G (p.Asp288Glu) rs780887572
NM_000548.4(TSC2):c.866C>T (p.Ala289Val) rs755631210
NM_000548.4(TSC2):c.86G>A (p.Arg29Lys)
NM_000548.4(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000548.4(TSC2):c.893T>C (p.Phe298Ser) rs747310967
NM_000548.4(TSC2):c.89C>G (p.Ser30Cys)
NM_000548.4(TSC2):c.902T>C (p.Met301Thr) rs1060500949
NM_000548.4(TSC2):c.907C>A (p.Leu303Ile) rs1060500943
NM_000548.4(TSC2):c.907C>T (p.Leu303Phe) rs1060500943
NM_000548.4(TSC2):c.913G>A (p.Gly305Arg)
NM_000548.4(TSC2):c.921C>G (p.His307Gln) rs878854121
NM_000548.4(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.4(TSC2):c.922C>T (p.Arg308Trp) rs201144475
NM_000548.4(TSC2):c.925C>T (p.Leu309Phe) rs1258567486
NM_000548.4(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000548.4(TSC2):c.929A>T (p.Tyr310Phe)
NM_000548.4(TSC2):c.92C>T (p.Ala31Val)
NM_000548.4(TSC2):c.934C>T (p.Leu312Phe) rs755368431
NM_000548.4(TSC2):c.941A>G (p.Asn314Ser) rs878854123
NM_000548.4(TSC2):c.944C>T (p.Ser315Leu) rs202082319
NM_000548.4(TSC2):c.947C>A (p.Pro316Gln) rs751490043
NM_000548.4(TSC2):c.955G>A (p.Val319Met) rs1432086775
NM_000548.4(TSC2):c.975+3A>C rs1131692179
NM_000548.4(TSC2):c.975+7C>T rs372463702
NM_000548.4(TSC2):c.975G>C (p.Gln325His)
NM_000548.4(TSC2):c.976-3C>T rs45517151
NM_000548.4(TSC2):c.97G>A (p.Gly33Ser) rs370230541
NM_000548.4(TSC2):c.98G>A (p.Gly33Asp) rs1352220583
NM_000548.4(TSC2):c.991A>G (p.Asn331Asp) rs1060500974
NM_000548.4(TSC2):c.994G>A (p.Glu332Lys) rs911600402
NM_000548.4(TSC2):c.997G>T (p.Val333Leu) rs1336741146

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