ClinVar Miner

List of variants studied for Tuberous sclerosis 1

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ClinVar version:
Total variants: 811
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HGVS dbSNP
NC_000009.12:g.(132875199_132878172)_(132897610_132900715)del
NC_000009.12:g.(?_132896215)_(132904474_?)del
NC_000009.12:g.(?_132896225)_(132945143_?)dup
NC_000009.12:g.(?_132896229)_(132928878_?)del
NC_000009.12:g.(?_132896235)_(132928872_?)dup
NC_000009.12:g.(?_132900715)_(132912457_?)dup
NC_000009.12:g.(?_132910551)_(132912477_?)del
NC_000009.12:g.(?_132923328)_(132928892_?)dup
NC_000009.12:g.(?_132928761)_(132928878_?)dup
NM_000368.3(TSC1):c.2509_2512delAACA (p.Asn837Valfs) rs118203707
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1009_1015delCTGATAA (p.Ile338Asnfs) rs1554817344
NM_000368.4(TSC1):c.1016C>T (p.Thr339Ile)
NM_000368.4(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.4(TSC1):c.1020A>G (p.Glu340=) rs760233114
NM_000368.4(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1029+8G>A rs1036865129
NM_000368.4(TSC1):c.1030-3C>G rs118203488
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.1039T>C (p.Trp347Arg)
NM_000368.4(TSC1):c.1041G>C (p.Trp347Cys)
NM_000368.4(TSC1):c.1046C>A (p.Pro349Gln) rs1554817268
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1050T>C (p.Ser350=) rs150777389
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.4(TSC1):c.106+2T>C rs1554820976
NM_000368.4(TSC1):c.106+5G>A rs1554820973
NM_000368.4(TSC1):c.106+9A>G rs1554820969
NM_000368.4(TSC1):c.1065G>A (p.Met355Ile) rs878853958
NM_000368.4(TSC1):c.1073delC (p.Pro358Leufs) rs1554817259
NM_000368.4(TSC1):c.1078A>G (p.Thr360Ala) rs201738258
NM_000368.4(TSC1):c.1078A>T (p.Thr360Ser) rs201738258
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1084_1086delCCT (p.Pro362del) rs1554817252
NM_000368.4(TSC1):c.1096C>G (p.Pro366Ala) rs1041988929
NM_000368.4(TSC1):c.1097C>T (p.Pro366Leu) rs763915012
NM_000368.4(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051
NM_000368.4(TSC1):c.109C>T (p.Arg37Cys) rs1309560054
NM_000368.4(TSC1):c.1105C>A (p.Leu369Met) rs118203496
NM_000368.4(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1110A>T (p.Ser370=) rs371648887
NM_000368.4(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1121G>A (p.Ser374Asn)
NM_000368.4(TSC1):c.1130T>G (p.Phe377Cys) rs1187617751
NM_000368.4(TSC1):c.1130_1131delTT (p.Phe377Trpfs) rs1554817222
NM_000368.4(TSC1):c.1136C>T (p.Thr379Ile) rs1060503193
NM_000368.4(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
NM_000368.4(TSC1):c.1139C>T (p.Thr380Ile) rs1064796512
NM_000368.4(TSC1):c.1141+10T>C rs367601694
NM_000368.4(TSC1):c.1142-9G>A rs1554817169
NM_000368.4(TSC1):c.1144G>A (p.Gly382Ser) rs367564729
NM_000368.4(TSC1):c.1148G>A (p.Gly383Glu) rs1554817166
NM_000368.4(TSC1):c.114C>G (p.Gly38=) rs776158461
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1167A>C (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1190C>T (p.Pro397Leu)
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.4(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.4(TSC1):c.1200C>G (p.Leu400=) rs767514820
NM_000368.4(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>A (p.Ser403=) rs141184479
NM_000368.4(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.4(TSC1):c.1216T>C (p.Tyr406His) rs1554817128
NM_000368.4(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.121C>T (p.Leu41Phe) rs118203334
NM_000368.4(TSC1):c.1223A>G (p.His408Arg) rs1554817122
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1231C>T (p.Leu411Phe) rs397514840
NM_000368.4(TSC1):c.1232T>A (p.Leu411His)
NM_000368.4(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218
NM_000368.4(TSC1):c.1248C>T (p.Val416=) rs777823426
NM_000368.4(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.4(TSC1):c.1253C>A (p.Pro418His) rs997339959
NM_000368.4(TSC1):c.1253C>G (p.Pro418Arg)
NM_000368.4(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.4(TSC1):c.1256C>G (p.Pro419Arg) rs878853959
NM_000368.4(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257del (p.Arg420Glyfs) rs118203506
NM_000368.4(TSC1):c.1258A>G (p.Arg420Gly) rs1554817078
NM_000368.4(TSC1):c.1263+4C>T rs1554817077
NM_000368.4(TSC1):c.1263+5G>A
NM_000368.4(TSC1):c.1263+6_1263+8dupATC rs751182565
NM_000368.4(TSC1):c.1263+9C>T rs761837376
NM_000368.4(TSC1):c.1264-6T>A rs370778877
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1273A>G (p.Met425Val) rs753199284
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1277_1279delATT (p.Asp426_Ser427delinsAla)
NM_000368.4(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro) rs1554816418
NM_000368.4(TSC1):c.1291T>C (p.Cys431Arg)
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.4(TSC1):c.1301dup (p.Gln435Thrfs) rs1554816394
NM_000368.4(TSC1):c.1302A>G (p.Arg434=) rs907840461
NM_000368.4(TSC1):c.1305A>G (p.Gln435=) rs1334781311
NM_000368.4(TSC1):c.130A>G (p.Thr44Ala) rs1399266964
NM_000368.4(TSC1):c.1315C>G (p.Leu439Val) rs199800297
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.1328G>T (p.Gly443Val) rs1489175329
NM_000368.4(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1333+6delA rs1060503212
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.4(TSC1):c.133T>C (p.Leu45=) rs755226092
NM_000368.4(TSC1):c.1340C>T (p.Pro447Leu)
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1344T>G (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1376T>A (p.Leu459His) rs1554816231
NM_000368.4(TSC1):c.1388dup (p.Leu463Phefs) rs1064796237
NM_000368.4(TSC1):c.1410_1412delAGA (p.Glu470del)
NM_000368.4(TSC1):c.1415G>A (p.Ser472Asn)
NM_000368.4(TSC1):c.1415G>C (p.Ser472Thr)
NM_000368.4(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.4(TSC1):c.1431_1434del (p.Glu478Lysfs) rs118203527
NM_000368.4(TSC1):c.1436_1438delAAG (p.Glu479del)
NM_000368.4(TSC1):c.1438+5T>C rs1060503215
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-10T>A rs1060504852
NM_000368.4(TSC1):c.1439-20_1439-9delGTTTCCTCTCTT rs1064792996
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1442C>T (p.Ala481Val) rs775367219
NM_000368.4(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1446_1447delAT (p.Ser483Terfs) rs1554816076
NM_000368.4(TSC1):c.1453G>T (p.Glu485Ter)
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1465A>T (p.Ile489Phe)
NM_000368.4(TSC1):c.1469C>T (p.Thr490Ile)
NM_000368.4(TSC1):c.146delA (p.Tyr49Serfs) rs397514861
NM_000368.4(TSC1):c.1470_1472delCAC (p.Thr491del) rs1554816071
NM_000368.4(TSC1):c.1472C>T (p.Thr491Ile) rs1554816070
NM_000368.4(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.4(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.4(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.4(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.4(TSC1):c.1506C>T (p.Gly502=) rs772337076
NM_000368.4(TSC1):c.1518delC (p.Tyr508Thrfs) rs1060503210
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1528G>A (p.Asp510Asn) rs779206386
NM_000368.4(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.4(TSC1):c.1530_1531delCA (p.Asp510Glufs) rs118203544
NM_000368.4(TSC1):c.1539A>G (p.Pro513=) rs755055358
NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1541G>A (p.Gly514Asp)
NM_000368.4(TSC1):c.1541_1549delGTTCTCAGCinsTG (p.Gly514Valfs)
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1562C>G (p.Ser521Trp)
NM_000368.4(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1580_1581del (p.Gln527Argfs) rs118203550
NM_000368.4(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.4(TSC1):c.1582_1602delGGCGCCAGCGTGAACCCTGAG (p.Gly528_Glu534del) rs766376606
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.1589G>A (p.Ser530Asn) rs368481360
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1591G>A (p.Val531Met)
NM_000368.4(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.4(TSC1):c.159C>T (p.Ser53=) rs756335238
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1602_1603delGCinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.4(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.4(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.4(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.4(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.4(TSC1):c.1626G>A (p.Lys542=) rs756935981
NM_000368.4(TSC1):c.1631G>A (p.Gly544Glu) rs770570830
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.166C>T (p.Pro56Ser) rs1330089369
NM_000368.4(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1680_1702del (p.Ser561Argfs) rs118203557
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.168G>A (p.Pro56=) rs781483110
NM_000368.4(TSC1):c.1697delC (p.Pro566Leufs) rs118203563
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1738A>G (p.Ile580Val) rs1179358967
NM_000368.4(TSC1):c.1744A>G (p.Thr582Ala)
NM_000368.4(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.4(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.4(TSC1):c.1758delT (p.Cys586Terfs) rs1554815856
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.4(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.4(TSC1):c.1772C>T (p.Pro591Leu) rs768985094
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.4(TSC1):c.1781delT (p.Val594Glyfs) rs1554815829
NM_000368.4(TSC1):c.1782_1786delGGGCT (p.Gly595Trpfs) rs1554815828
NM_000368.4(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.4(TSC1):c.1794C>T (p.Ser598=) rs766438395
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1800G>C (p.Gln600His) rs1254353359
NM_000368.4(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.4(TSC1):c.1808C>G (p.Pro603Arg)
NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.1809G>A (p.Pro603=) rs112434645
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1818T>A (p.His606Gln) rs758769193
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.1848C>T (p.Ala616=) rs752286096
NM_000368.4(TSC1):c.1849delC (p.His617Ilefs)
NM_000368.4(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.4(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.4(TSC1):c.1869G>A (p.Lys623=) rs778556382
NM_000368.4(TSC1):c.1871C>G (p.Thr624Ser)
NM_000368.4(TSC1):c.1871C>T (p.Thr624Ile) rs754401816
NM_000368.4(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.4(TSC1):c.1878G>A (p.Glu626=) rs753424167
NM_000368.4(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1884A>G (p.Leu628=) rs1038140620
NM_000368.4(TSC1):c.1884_1885delAAinsGC (p.Lys629Gln) rs1554815756
NM_000368.4(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433
NM_000368.4(TSC1):c.1888_1891delAAAG (p.Lys630Glnfs)
NM_000368.4(TSC1):c.188C>T (p.Thr63Ile)
NM_000368.4(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.4(TSC1):c.1896delA (p.Gly633Glufs)
NM_000368.4(TSC1):c.1904_1905delCA (p.Thr635Argfs) rs118203597
NM_000368.4(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1922C>A (p.Pro641His) rs397514863
NM_000368.4(TSC1):c.192G>T (p.Leu64Phe) rs1554820635
NM_000368.4(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1939G>A (p.Glu647Lys)
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.4(TSC1):c.1949A>G (p.Asp650Gly) rs939275328
NM_000368.4(TSC1):c.1954C>T (p.Leu652=) rs747452647
NM_000368.4(TSC1):c.1959dupA (p.Gln654Thrfs) rs118203603
NM_000368.4(TSC1):c.1960C>A (p.Gln654Lys) rs75820036
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1975G>A (p.Ala659Thr) rs914628341
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1997+3A>G rs1554815682
NM_000368.4(TSC1):c.1997+9C>T rs371043832
NM_000368.4(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341
NM_000368.4(TSC1):c.1998-1G>T rs118203614
NM_000368.4(TSC1):c.1998-9dup rs1388433086
NM_000368.4(TSC1):c.2006T>C (p.Leu669Ser) rs118203617
NM_000368.4(TSC1):c.2018C>A (p.Ser673Tyr)
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.4(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.4(TSC1):c.2030C>T (p.Thr677Ile) rs779584449
NM_000368.4(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
NM_000368.4(TSC1):c.2038G>A (p.Gly680Arg) rs757322533
NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.4(TSC1):c.2041+1G>A rs397514842
NM_000368.4(TSC1):c.2041+5delA
NM_000368.4(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.4(TSC1):c.2056G>A (p.Asp686Asn)
NM_000368.4(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.4(TSC1):c.2064C>T (p.Ile688=) rs878853963
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.4(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.4(TSC1):c.2097C>A (p.His699Gln) rs1554815319
NM_000368.4(TSC1):c.2105_2106insCT (p.Leu702Phefs)
NM_000368.4(TSC1):c.210G>A (p.Lys70=) rs1060503219
NM_000368.4(TSC1):c.211-10delA rs1060504859
NM_000368.4(TSC1):c.211-1G>A rs118203353
NM_000368.4(TSC1):c.211-2A>C rs118203352
NM_000368.4(TSC1):c.211-3C>T
NM_000368.4(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.4(TSC1):c.2111_2112delAT (p.Tyr704Terfs) rs118203645
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.4(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.4(TSC1):c.213C>A (p.His71Gln) rs765578482
NM_000368.4(TSC1):c.2141T>A (p.Leu714His) rs1438737976
NM_000368.4(TSC1):c.2143C>T (p.Arg715Trp)
NM_000368.4(TSC1):c.2145G>C (p.Arg715=)
NM_000368.4(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.4(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.4(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2165delA (p.Lys722Argfs) rs1060503213
NM_000368.4(TSC1):c.2177_2180dup (p.Ala728Serfs) rs1554815246
NM_000368.4(TSC1):c.2183C>T (p.Ala728Val)
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.4(TSC1):c.2196T>C (p.His732=) rs776441369
NM_000368.4(TSC1):c.2198A>C (p.Asn733Thr)
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2208+10G>T rs945077563
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2225T>C (p.Leu742Ser) rs1060503201
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2231_2235delAGAAG (p.Glu744Glyfs) rs1554815049
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.4(TSC1):c.2239A>G (p.Ile747Val)
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.4(TSC1):c.2276C>T (p.Ala759Val) rs1554815021
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.4(TSC1):c.2299C>G (p.Gln767Glu)
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2317_2318delACinsCA (p.Thr773His) rs1060503202
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2323C>T (p.Leu775Phe) rs868755168
NM_000368.4(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.4(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.4(TSC1):c.2341_2360dup20 (p.Glu787Aspfs) rs1554814935
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2357G>A (p.Arg786Gln)
NM_000368.4(TSC1):c.2359G>A (p.Glu787Lys)
NM_000368.4(TSC1):c.2361G>C (p.Glu787Asp)
NM_000368.4(TSC1):c.236A>G (p.Tyr79Cys) rs373855276
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.2380C>A (p.Gln794Lys)
NM_000368.4(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2391+1G>C rs1060503224
NM_000368.4(TSC1):c.2391+8C>T rs1554814904
NM_000368.4(TSC1):c.2392-5G>A
NM_000368.4(TSC1):c.2392-7T>C rs1554814693
NM_000368.4(TSC1):c.2392-8_2392-7delTT rs1554814696
NM_000368.4(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.23G>T (p.Gly8Val)
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.4(TSC1):c.2423C>T (p.Ala808Val) rs756514375
NM_000368.4(TSC1):c.2424G>A (p.Ala808=) rs200651872
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.4(TSC1):c.2438A>G (p.Glu813Gly) rs1554814657
NM_000368.4(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.4(TSC1):c.2459A>G (p.Lys820Arg)
NM_000368.4(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.4(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2488C>T (p.Gln830Ter)
NM_000368.4(TSC1):c.2491G>A (p.Val831Ile) rs773279842
NM_000368.4(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.24_42del19insCAA (p.Glu9Lysfs) rs1554821022
NM_000368.4(TSC1):c.2502+8_2502+10delGAA rs762882968
NM_000368.4(TSC1):c.2503-3T>C rs1355806067
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2510dupA (p.Asn837Lysfs) rs118203709
NM_000368.4(TSC1):c.2511C>T (p.Asn837=) rs1554814448
NM_000368.4(TSC1):c.2513G>A (p.Ser838Asn) rs1060503208
NM_000368.4(TSC1):c.2515_2518delGAGT (p.Glu839Argfs) rs794727320
NM_000368.4(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.4(TSC1):c.2519C>T (p.Ser840Leu)
NM_000368.4(TSC1):c.2520G>A (p.Ser840=) rs547498792
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2545_2566delAACAGGCAGCTGTTGGTTCTTG (p.Asn849Glyfs)
NM_000368.4(TSC1):c.2547C>G (p.Asn849Lys) rs1554814418
NM_000368.4(TSC1):c.2549G>A (p.Arg850Lys) rs1060503195
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2559_2562delGGTT (p.Leu853Phefs) rs118203711
NM_000368.4(TSC1):c.255T>C (p.Thr85=) rs1060504856
NM_000368.4(TSC1):c.2585A>G (p.Tyr862Cys) rs1060503221
NM_000368.4(TSC1):c.2604C>T (p.Asn868=) rs147163264
NM_000368.4(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.4(TSC1):c.2614G>C (p.Asp872His) rs746607455
NM_000368.4(TSC1):c.2625+367A>G
NM_000368.4(TSC1):c.2626-2A>C
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2626-3_2626-2insTT rs760737807
NM_000368.4(TSC1):c.2626-3dupC rs1554813639
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626-4_2626-3insT rs5901000
NM_000368.4(TSC1):c.2626-4_2626-3insTC rs1554813651
NM_000368.4(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4delTTT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.4(TSC1):c.2630T>C (p.Val877Ala)
NM_000368.4(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.4(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.4(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.4(TSC1):c.2645C>T (p.Ala882Val) rs1554813594
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2658A>G (p.Lys886=) rs368212910
NM_000368.4(TSC1):c.265A>G (p.Ile89Val)
NM_000368.4(TSC1):c.2665_2666delGAinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.266T>C (p.Ile89Thr)
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2672delA (p.Asn891Thrfs) rs118203724
NM_000368.4(TSC1):c.2672dupA (p.Asn891Lysfs) rs118203724
NM_000368.4(TSC1):c.2675_2676delGA (p.Arg892Lysfs) rs118203726
NM_000368.4(TSC1):c.2677A>C (p.Ser893Arg)
NM_000368.4(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.4(TSC1):c.2683G>A (p.Val895Ile) rs576476807
NM_000368.4(TSC1):c.2686C>A (p.Leu896Ile)
NM_000368.4(TSC1):c.2686C>T (p.Leu896Phe)
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.2700G>C (p.Gln900His)
NM_000368.4(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.4(TSC1):c.2711C>T (p.Thr904Ile)
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.271_272del (p.Ser91Valfs) rs118203360
NM_000368.4(TSC1):c.2722C>T (p.Arg908Trp) rs748845915
NM_000368.4(TSC1):c.2723G>A (p.Arg908Gln) rs780115763
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.4(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.4(TSC1):c.2755A>G (p.Lys919Glu)
NM_000368.4(TSC1):c.2756A>C (p.Lys919Thr)
NM_000368.4(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.4(TSC1):c.2766T>G (p.Leu922=) rs546119844
NM_000368.4(TSC1):c.276dupA (p.Leu93Thrfs) rs118203362
NM_000368.4(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.4(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.4(TSC1):c.2781G>A (p.Lys927=) rs118203733
NM_000368.4(TSC1):c.2812A>C (p.Arg938=) rs1207111375
NM_000368.4(TSC1):c.2813+5C>T rs1060503223
NM_000368.4(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.4(TSC1):c.2814-7C>T rs1060504851
NM_000368.4(TSC1):c.2814-9A>G rs878853965
NM_000368.4(TSC1):c.2815G>A (p.Gly939Arg)
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2830G>A (p.Ala944Thr) rs751362258
NM_000368.4(TSC1):c.2836A>T (p.Ser946Cys) rs1060503225
NM_000368.4(TSC1):c.2841G>T (p.Arg947Ser) rs1417111404
NM_000368.4(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.4(TSC1):c.2861_2862delTAinsAC (p.Ile954Asn)
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461
NM_000368.4(TSC1):c.2867A>T (p.Gln956Leu) rs1212768461
NM_000368.4(TSC1):c.2885T>G (p.Ile962Ser) rs1438535722
NM_000368.4(TSC1):c.2890G>A (p.Asp964Asn)
NM_000368.4(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.4(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217
NM_000368.4(TSC1):c.2896T>C (p.Tyr966His) rs767946427
NM_000368.4(TSC1):c.289A>G (p.Ile97Val) rs138541569
NM_000368.4(TSC1):c.28C>T (p.Leu10Phe) rs1399717425
NM_000368.4(TSC1):c.2901C>T (p.Gly967=) rs774634388
NM_000368.4(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2933T>C (p.Leu978Pro)
NM_000368.4(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.4(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.4(TSC1):c.2940A>G (p.Glu980=) rs557674294
NM_000368.4(TSC1):c.2941_2943delGAA (p.Glu981del)
NM_000368.4(TSC1):c.2949_2957delAGAAGCAGC (p.Ala988_Glu990del) rs767902029
NM_000368.4(TSC1):c.2953G>A (p.Ala985Thr) rs1554813242
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.2974delA (p.Arg992Glyfs) rs1554813210
NM_000368.4(TSC1):c.2975+6A>T rs1060503220
NM_000368.4(TSC1):c.2976-10T>A rs913722609
NM_000368.4(TSC1):c.2976-8T>G rs1060504858
NM_000368.4(TSC1):c.2982C>T (p.Asp994=) rs199919348
NM_000368.4(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.4(TSC1):c.3000C>G (p.Cys1000Trp)
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.4(TSC1):c.3010A>G (p.Met1004Val)
NM_000368.4(TSC1):c.3019C>T (p.His1007Tyr) rs764738792
NM_000368.4(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449
NM_000368.4(TSC1):c.3034T>C (p.Ser1012Pro) rs764979889
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721
NM_000368.4(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.4(TSC1):c.305C>G (p.Ser102Cys) rs1307630727
NM_000368.4(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.4(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.4(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.4(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.4(TSC1):c.3075C>T (p.Ser1025=) rs765753157
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3076G>T (p.Ala1026Ser)
NM_000368.4(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
NM_000368.4(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.4(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391
NM_000368.4(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.4(TSC1):c.3120C>T (p.Ser1040=) rs1289954163
NM_000368.4(TSC1):c.3121A>G (p.Ser1041Gly) rs1060503204
NM_000368.4(TSC1):c.3121_3129dup (p.Ser1043_Glu1044insSerSerSer) rs2234980
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3124_3129dupAGCAGC (p.Ser1043_Glu1044insSerSer) rs2234980
NM_000368.4(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3127_3129delAGC (p.Ser1043del) rs2234980
NM_000368.4(TSC1):c.3127_3129dupAGC (p.Ser1043_Glu1044insSer) rs2234980
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.312G>T (p.Lys104Asn) rs1554820281
NM_000368.4(TSC1):c.3133C>G (p.Leu1045Val)
NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.4(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727
NM_000368.4(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743
NM_000368.4(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747
NM_000368.4(TSC1):c.3181A>C (p.Ser1061Arg)
NM_000368.4(TSC1):c.3181A>G (p.Ser1061Gly)
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992
NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) rs753388676
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899
NM_000368.4(TSC1):c.3206A>T (p.Glu1069Val) rs1554812780
NM_000368.4(TSC1):c.3207A>G (p.Glu1069=) rs878853966
NM_000368.4(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.4(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3215C>T (p.Ala1072Val)
NM_000368.4(TSC1):c.3228C>T (p.Thr1076=) rs140622357
NM_000368.4(TSC1):c.3237C>T (p.Gly1079=) rs749995749
NM_000368.4(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.4(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) rs754282309
NM_000368.4(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680
NM_000368.4(TSC1):c.3308A>G (p.Gln1103Arg)
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.4(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.4(TSC1):c.331C>T (p.Pro111Ser)
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.4(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.4(TSC1):c.3350T>C (p.Leu1117Pro) rs762641110
NM_000368.4(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987
NM_000368.4(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.4(TSC1):c.3363G>C (p.Leu1121=) rs1060504857
NM_000368.4(TSC1):c.3364G>A (p.Gly1122Ser)
NM_000368.4(TSC1):c.3368_3369delAA (p.Lys1123Argfs) rs878853967
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3396C>T (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3400A>C (p.Asn1134His) rs1554812610
NM_000368.4(TSC1):c.3402C>T (p.Asn1134=) rs769266225
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.3414T>C (p.Pro1138=) rs745475737
NM_000368.4(TSC1):c.3416A>C (p.His1139Pro) rs764018144
NM_000368.4(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355
NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) rs763931959
NM_000368.4(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.4(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.3442G>A (p.Val1148Ile) rs1554812551
NM_000368.4(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.4(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.4(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.4(TSC1):c.3482A>G (p.His1161Arg)
NM_000368.4(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550
NM_000368.4(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.4(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.358C>A (p.Leu120Ile) rs1554820263
NM_000368.4(TSC1):c.362A>T (p.Lys121Met) rs118203369
NM_000368.4(TSC1):c.364-7C>T rs775465260
NM_000368.4(TSC1):c.370A>G (p.Thr124Ala) rs745871522
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
NM_000368.4(TSC1):c.378C>T (p.Val126=) rs373173550
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.385C>G (p.Leu129Val) rs1060503198
NM_000368.4(TSC1):c.389C>T (p.Thr130Ile) rs779340088
NM_000368.4(TSC1):c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) rs118203380
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.418C>G (p.Leu140Val) rs1554819915
NM_000368.4(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.4(TSC1):c.448C>T (p.His150Tyr) rs1060503206
NM_000368.4(TSC1):c.45C>T (p.Asp15=) rs1457262106
NM_000368.4(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.4(TSC1):c.467A>C (p.Asp156Ala) rs893232039
NM_000368.4(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.4(TSC1):c.479G>A (p.Arg160His) rs749979841
NM_000368.4(TSC1):c.47C>G (p.Ser16Cys) rs774900322
NM_000368.4(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.4(TSC1):c.484T>C (p.Ser162Pro) rs1060503205
NM_000368.4(TSC1):c.503A>C (p.Lys168Thr) rs1007335343
NM_000368.4(TSC1):c.509-10C>T rs780670013
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.514G>A (p.Val172Met) rs952813051
NM_000368.4(TSC1):c.514G>C (p.Val172Leu)
NM_000368.4(TSC1):c.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.51C>G (p.Pro17=) rs768175095
NM_000368.4(TSC1):c.523G>T (p.Val175Phe)
NM_000368.4(TSC1):c.524T>C (p.Val175Ala) rs1415895533
NM_000368.4(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209
NM_000368.4(TSC1):c.531C>T (p.Leu177=) rs752615412
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.540C>T (p.Leu180=) rs201562103
NM_000368.4(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.4(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_000368.4(TSC1):c.569G>A (p.Arg190His)
NM_000368.4(TSC1):c.593A>G (p.Asn198Ser) rs577983115
NM_000368.4(TSC1):c.597C>T (p.Phe199=) rs202242304
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.602C>T (p.Ser201Phe)
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.623G>C (p.Ser208Thr)
NM_000368.4(TSC1):c.625A>G (p.Met209Val) rs754980229
NM_000368.4(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.65G>A (p.Arg22Gln) rs141736779
NM_000368.4(TSC1):c.65G>C (p.Arg22Pro) rs141736779
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.664-1G>C rs118203423
NM_000368.4(TSC1):c.670A>T (p.Met224Leu) rs535397245
NM_000368.4(TSC1):c.671T>A (p.Met224Lys)
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.69C>T (p.Asp23=) rs769282604
NM_000368.4(TSC1):c.725T>C (p.Leu242Pro) rs1554819388
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.734G>A (p.Arg245Gln) rs755859330
NM_000368.4(TSC1):c.737+10C>T rs1554819375
NM_000368.4(TSC1):c.737+2T>C
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.738-1G>A
NM_000368.4(TSC1):c.738-2_740delAGGTG rs1554817707
NM_000368.4(TSC1):c.73G>A (p.Val25Met) rs1230244328
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.4(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.4(TSC1):c.759T>A (p.His253Gln)
NM_000368.4(TSC1):c.769_776delATCGAGTG (p.Ile257Cysfs) rs1554817676
NM_000368.4(TSC1):c.771C>T (p.Ile257=) rs1060504854
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.774G>A (p.Glu258=) rs1554817678
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000368.4(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.4(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.4(TSC1):c.798C>T (p.Pro266=) rs770704462
NM_000368.4(TSC1):c.804A>G (p.Glu268=) rs753895570
NM_000368.4(TSC1):c.809C>T (p.Ser270Leu) rs878853968
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.4(TSC1):c.818A>G (p.Asp273Gly) rs768057796
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.4(TSC1):c.826T>C (p.Ser276Pro)
NM_000368.4(TSC1):c.830T>C (p.Val277Ala) rs200749357
NM_000368.4(TSC1):c.840A>G (p.Gln280=) rs1171852730
NM_000368.4(TSC1):c.848C>T (p.Ala283Val) rs1554817613
NM_000368.4(TSC1):c.850C>A (p.Arg284Ser) rs140544652
NM_000368.4(TSC1):c.850C>T (p.Arg284Cys) rs140544652
NM_000368.4(TSC1):c.850dup (p.Arg284Profs) rs1554817612
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.857C>G (p.Pro286Arg) rs375144225
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.4(TSC1):c.86_90dup (p.Glu31Leufs)
NM_000368.4(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.4(TSC1):c.871G>A (p.Asp291Asn)
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.878C>G (p.Thr293Ser)
NM_000368.4(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.4(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.899C>T (p.Thr300Ile) rs370916731
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.901_902del (p.Gln301Glufs) rs118203464
NM_000368.4(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.4(TSC1):c.903G>C (p.Gln301His)
NM_000368.4(TSC1):c.912T>C (p.Tyr304=) rs118203466
NM_000368.4(TSC1):c.913+4A>C rs1178304676
NM_000368.4(TSC1):c.914-10T>C rs1554817441
NM_000368.4(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.931C>G (p.Pro311Ala)
NM_000368.4(TSC1):c.938C>T (p.Ser313Phe)
NM_000368.4(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.942G>A (p.Thr314=) rs144208203
NM_000368.4(TSC1):c.943T>A (p.Ser315Thr) rs185815387
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049
NM_000368.4(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.4(TSC1):c.957_959delGTT (p.Leu320del) rs755655903
NM_000368.4(TSC1):c.960A>G (p.Leu320=) rs770183315
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.974A>G (p.Gln325Arg)
NM_000368.4(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.4(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.4(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.4(TSC1):c.988C>A (p.Leu330Met) rs1060503222
NM_000368.4(TSC1):c.988_989insGA (p.Leu330Argfs)
NM_000368.4(TSC1):c.989_990del (p.Leu330Glnfs) rs118203479
NM_000368.4(TSC1):c.989dupT (p.Ser331Glufs) rs118203478
NM_000368.4(TSC1):c.997_998delCC (p.Pro333Ilefs)
NM_000368.4(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_001162426.1(TSC1):c.2266G>T (p.Glu756Ter) rs1057519319

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