ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance for Tuberous sclerosis 1

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Gene type:
ClinVar version:
Total variants: 537
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HGVS dbSNP
NC_000009.11:g.(?_135771612)_(135778184_?)dup
NC_000009.11:g.(?_135771612)_(135820530_?)dup
NC_000009.11:g.(?_135771622)_(135804259_?)dup
NC_000009.11:g.(?_135785948)_(135820530_?)dup
NC_000009.11:g.(?_135798715)_(135804279_?)dup
NC_000009.11:g.(?_135804148)_(135804265_?)dup
NC_000009.11:g.(?_135819930)_(135820530_?)dup
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1016C>T (p.Thr339Ile) rs1246013552
NM_000368.4(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.4(TSC1):c.1022C>T (p.Pro341Leu)
NM_000368.4(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.4(TSC1):c.1030-3C>G rs118203488
NM_000368.4(TSC1):c.1030-5C>G
NM_000368.4(TSC1):c.1039T>A (p.Trp347Arg)
NM_000368.4(TSC1):c.1039T>C (p.Trp347Arg) rs1175861603
NM_000368.4(TSC1):c.1041G>C (p.Trp347Cys)
NM_000368.4(TSC1):c.1046C>A (p.Pro349Gln) rs1554817268
NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.4(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.4(TSC1):c.105T>C (p.Ser35=)
NM_000368.4(TSC1):c.106+5G>A rs1554820973
NM_000368.4(TSC1):c.106+6C>T
NM_000368.4(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.4(TSC1):c.1065G>A (p.Met355Ile) rs878853958
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.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.4(TSC1):c.1091A>T (p.Asn364Ile) rs876658981
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>A (p.Arg37Ser)
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.1113C>A (p.His371Gln) rs771217333
NM_000368.4(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.4(TSC1):c.1130T>G (p.Phe377Cys) rs1187617751
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.1144G>A (p.Gly382Ser) rs367564729
NM_000368.4(TSC1):c.1148G>A (p.Gly383Glu) rs1554817166
NM_000368.4(TSC1):c.115C>G (p.Pro39Ala)
NM_000368.4(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.116C>G (p.Pro39Arg)
NM_000368.4(TSC1):c.1190C>T (p.Pro397Leu)
NM_000368.4(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.4(TSC1):c.1209G>A (p.Ser403=) rs141184479
NM_000368.4(TSC1):c.120G>A (p.Met40Ile)
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.1219G>C (p.Val407Leu)
NM_000368.4(TSC1):c.1219G>T (p.Val407Leu)
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.1237C>G (p.Gln413Glu)
NM_000368.4(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218
NM_000368.4(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
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.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.1264-6T>A rs370778877
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835
NM_000368.4(TSC1):c.1289_1290insGCGCGGACC (p.Cys431_Leu432insArgGlyPro) rs1554816418
NM_000368.4(TSC1):c.1291T>C (p.Cys431Arg)
NM_000368.4(TSC1):c.1298A>G (p.His433Arg) rs1554816403
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.1328G>T (p.Gly443Val) rs1489175329
NM_000368.4(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1333+6delA rs1060503212
NM_000368.4(TSC1):c.1339C>G (p.Pro447Ala)
NM_000368.4(TSC1):c.1340C>T (p.Pro447Leu)
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.1376T>A (p.Leu459His) rs1554816231
NM_000368.4(TSC1):c.1407_1409AGA[1] (p.Glu470del) rs1564483296
NM_000368.4(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.4(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.4(TSC1):c.1418T>C (p.Ile473Thr)
NM_000368.4(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.4(TSC1):c.1430_1432AAG[2] (p.Glu479del) rs1233867963
NM_000368.4(TSC1):c.1438+5T>C rs1060503215
NM_000368.4(TSC1):c.1442C>T (p.Ala481Val) rs775367219
NM_000368.4(TSC1):c.1448C>T (p.Ser483Phe)
NM_000368.4(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.4(TSC1):c.1467_1469CAC[1] (p.Thr491del) rs1554816071
NM_000368.4(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.4(TSC1):c.1472C>T (p.Thr491Ile) rs1554816070
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.1528G>A (p.Asp510Asn) rs779206386
NM_000368.4(TSC1):c.1541G>A (p.Gly514Asp) rs1564482313
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1562C>G (p.Ser521Trp)
NM_000368.4(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733
NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
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.158G>A (p.Ser53Asn)
NM_000368.4(TSC1):c.1591G>A (p.Val531Met)
NM_000368.4(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.4(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.4(TSC1):c.1613C>T (p.Ser538Phe)
NM_000368.4(TSC1):c.1619T>C (p.Leu540Pro)
NM_000368.4(TSC1):c.1628T>C (p.Leu543Pro)
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.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1706A>G (p.Asp569Gly)
NM_000368.4(TSC1):c.1733C>T (p.Thr578Ile)
NM_000368.4(TSC1):c.1738A>G (p.Ile580Val) rs1179358967
NM_000368.4(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
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.1757G>A (p.Cys586Tyr)
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.1781T>A (p.Val594Glu) rs1060503194
NM_000368.4(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
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.1805C>T (p.Pro602Leu)
NM_000368.4(TSC1):c.1808C>A (p.Pro603Gln)
NM_000368.4(TSC1):c.1808C>G (p.Pro603Arg)
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1813G>A (p.Asp605Asn)
NM_000368.4(TSC1):c.1814A>G (p.Asp605Gly)
NM_000368.4(TSC1):c.1816C>T (p.His606Tyr)
NM_000368.4(TSC1):c.1818T>A (p.His606Gln) rs758769193
NM_000368.4(TSC1):c.1844C>T (p.Thr615Ile)
NM_000368.4(TSC1):c.1852C>G (p.His618Asp)
NM_000368.4(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
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.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.4(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433
NM_000368.4(TSC1):c.188C>T (p.Thr63Ile) rs1564503204
NM_000368.4(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.4(TSC1):c.1906G>C (p.Glu636Gln)
NM_000368.4(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.4(TSC1):c.1922C>A (p.Pro641His) rs397514863
NM_000368.4(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306
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.1937T>C (p.Met646Thr)
NM_000368.4(TSC1):c.1939G>A (p.Glu647Lys) rs1171512070
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1949A>G (p.Asp650Gly) rs939275328
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.1975G>A (p.Ala659Thr) rs914628341
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1995C>G (p.Asn665Lys)
NM_000368.4(TSC1):c.1997+3A>G rs1554815682
NM_000368.4(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341
NM_000368.4(TSC1):c.2006T>C (p.Leu669Ser) rs118203617
NM_000368.4(TSC1):c.2018C>A (p.Ser673Tyr)
NM_000368.4(TSC1):c.2021T>G (p.Val674Gly)
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.2030C>T (p.Thr677Ile) rs779584449
NM_000368.4(TSC1):c.2032C>T (p.His678Tyr)
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+5delA rs1564479424
NM_000368.4(TSC1):c.2044T>C (p.Ser682Pro)
NM_000368.4(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.4(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
NM_000368.4(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
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.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2080C>A (p.Gln694Lys)
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.210G>A (p.Lys70=) rs1060503219
NM_000368.4(TSC1):c.211-3C>T rs1564501920
NM_000368.4(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.4(TSC1):c.2116C>A (p.Arg706Ser)
NM_000368.4(TSC1):c.2116C>T (p.Arg706Cys)
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) rs1564478519
NM_000368.4(TSC1):c.2145G>C (p.Arg715=) rs1379334013
NM_000368.4(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.4(TSC1):c.2161C>T (p.Arg721Cys)
NM_000368.4(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2183C>T (p.Ala728Val) rs1564478337
NM_000368.4(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.4(TSC1):c.2198A>C (p.Asn733Thr) rs1564478277
NM_000368.4(TSC1):c.2209A>G (p.Lys737Glu)
NM_000368.4(TSC1):c.2225T>C (p.Leu742Ser) rs1060503201
NM_000368.4(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.4(TSC1):c.2239A>G (p.Ile747Val) rs1564477496
NM_000368.4(TSC1):c.2244G>C (p.Gln748His)
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.2284A>G (p.Asn762Asp)
NM_000368.4(TSC1):c.2299C>G (p.Gln767Glu)
NM_000368.4(TSC1):c.2302C>T (p.Arg768Cys)
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2317_2318delinsCA (p.Thr773His) rs1060503202
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.2357G>A (p.Arg786Gln) rs1336228562
NM_000368.4(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.4(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.4(TSC1):c.2369A>G (p.Tyr790Cys)
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.2392-5G>A rs1463016849
NM_000368.4(TSC1):c.2393C>T (p.Thr798Met)
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.23G>T (p.Gly8Val) rs1269896419
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.2431C>G (p.Arg811Gly) rs397514814
NM_000368.4(TSC1):c.2431C>T (p.Arg811Trp)
NM_000368.4(TSC1):c.2432G>A (p.Arg811Gln)
NM_000368.4(TSC1):c.2438A>G (p.Glu813Gly) rs1554814657
NM_000368.4(TSC1):c.243C>T (p.Gly81=)
NM_000368.4(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.4(TSC1):c.2451_2453CAA[2] (p.Asn819del)
NM_000368.4(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.4(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.4(TSC1):c.2472T>A (p.Thr824=)
NM_000368.4(TSC1):c.248C>T (p.Ala83Val)
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.2503-3T>C rs1355806067
NM_000368.4(TSC1):c.2513G>A (p.Ser838Asn) rs1060503208
NM_000368.4(TSC1):c.2519C>T (p.Ser840Leu) rs1564475110
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.2551C>G (p.Gln851Glu)
NM_000368.4(TSC1):c.2585A>G (p.Tyr862Cys) rs1060503221
NM_000368.4(TSC1):c.2606A>G (p.Lys869Arg)
NM_000368.4(TSC1):c.2614G>C (p.Asp872His) rs746607455
NM_000368.4(TSC1):c.2625+367A>G rs1564474542
NM_000368.4(TSC1):c.2625+4T>G
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2626-5T>G
NM_000368.4(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.4(TSC1):c.2630T>C (p.Val877Ala) rs1564472328
NM_000368.4(TSC1):c.2636T>C (p.Met879Thr)
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.263C>G (p.Ser88Cys)
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.2651A>G (p.Tyr884Cys)
NM_000368.4(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.266T>C (p.Ile89Thr) rs1564501791
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595
NM_000368.4(TSC1):c.2681A>G (p.His894Arg)
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.2700G>C (p.Gln900His)
NM_000368.4(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.4(TSC1):c.2711C>T (p.Thr904Ile) rs1564471932
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.272C>T (p.Ser91Leu)
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) rs1319954878
NM_000368.4(TSC1):c.2756A>C (p.Lys919Thr) rs1324456435
NM_000368.4(TSC1):c.2761C>A (p.His921Asn)
NM_000368.4(TSC1):c.2776C>G (p.Gln926Glu)
NM_000368.4(TSC1):c.2778G>C (p.Gln926His) rs1554813423
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.2814A>C (p.Arg938Ser)
NM_000368.4(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
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_2862delinsAC (p.Ile954Asn) rs1564471610
NM_000368.4(TSC1):c.2864C>A (p.Thr955Asn)
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.2882A>G (p.Glu961Gly) rs760762170
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.2926A>G (p.Lys976Glu) rs796053448
NM_000368.4(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046
NM_000368.4(TSC1):c.2933T>C (p.Leu978Pro)
NM_000368.4(TSC1):c.2935_2937GAA[2] (p.Glu981del) rs1233796412
NM_000368.4(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.4(TSC1):c.2949_2957del (p.985_987AAE[1]) rs767902029
NM_000368.4(TSC1):c.2953G>A (p.Ala985Thr) rs1554813242
NM_000368.4(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.4(TSC1):c.2974del (p.Arg992fs) rs1554813210
NM_000368.4(TSC1):c.2975+6A>T rs1060503220
NM_000368.4(TSC1):c.2976-10T>A rs913722609
NM_000368.4(TSC1):c.2976G>T (p.Arg992Ser)
NM_000368.4(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.4(TSC1):c.2995G>C (p.Gly999Arg)
NM_000368.4(TSC1):c.3000C>G (p.Cys1000Trp)
NM_000368.4(TSC1):c.3004G>A (p.Asp1002Asn)
NM_000368.4(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.4(TSC1):c.3010A>G (p.Met1004Val)
NM_000368.4(TSC1):c.3016G>C (p.Gly1006Arg)
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.3032C>A (p.Ala1011Glu) rs796053449
NM_000368.4(TSC1):c.3034T>C (p.Ser1012Pro) rs764979889
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.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.4(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3076G>T (p.Ala1026Ser)
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.3084_3086del (p.Ser1030del)
NM_000368.4(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3088A>T (p.Ser1030Cys)
NM_000368.4(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.4(TSC1):c.3106G>A (p.Gly1036Arg)
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.3112_3114AGC[3] (p.Ser1041_Ser1043del)
NM_000368.4(TSC1):c.3112_3114AGC[4] (p.Ser1042_Ser1043del)
NM_000368.4(TSC1):c.3112_3114AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.4(TSC1):c.3121A>G (p.Ser1041Gly) rs1060503204
NM_000368.4(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.4(TSC1):c.3129_3130insAGCATCAGC (p.Glu1044_Leu1045insSerIleSer)
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.3151C>T (p.Pro1051Ser)
NM_000368.4(TSC1):c.3161A>G (p.Gln1054Arg)
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.3175T>C (p.Phe1059Leu)
NM_000368.4(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747
NM_000368.4(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.4(TSC1):c.3181A>G (p.Ser1061Gly) rs1203493016
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.3200T>G (p.Met1067Arg) rs1167362899
NM_000368.4(TSC1):c.3206A>T (p.Glu1069Val) rs1554812780
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.3215C>T (p.Ala1072Val)
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>A (p.Gly1089Asp)
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3274G>T (p.Ala1092Ser)
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
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.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.4(TSC1):c.329C>T (p.Ala110Val)
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.3305G>A (p.Ser1102Asn)
NM_000368.4(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680
NM_000368.4(TSC1):c.3308A>G (p.Gln1103Arg) rs1564469848
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.3322G>A (p.Gly1108Ser) rs118203753
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.3364G>A (p.Gly1122Ser)
NM_000368.4(TSC1):c.3368_3369del (p.Lys1123fs) rs878853967
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3389A>G (p.Lys1130Arg)
NM_000368.4(TSC1):c.3395C>T (p.Pro1132Leu)
NM_000368.4(TSC1):c.3400A>C (p.Asn1134His) rs1554812610
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.3416A>C (p.His1139Pro) rs764018144
NM_000368.4(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355
NM_000368.4(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.4(TSC1):c.3424C>T (p.Pro1142Ser)
NM_000368.4(TSC1):c.3433C>G (p.Pro1145Ala)
NM_000368.4(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.3436del (p.Asp1146fs)
NM_000368.4(TSC1):c.3442G>A (p.Val1148Ile) rs1554812551
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.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.4(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.4(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550
NM_000368.4(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.356G>A (p.Cys119Tyr)
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.363+3A>G
NM_000368.4(TSC1):c.370A>G (p.Thr124Ala) rs745871522
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
NM_000368.4(TSC1):c.383T>C (p.Val128Ala)
NM_000368.4(TSC1):c.384_401del (p.Leu129_Leu134del)
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.395G>C (p.Gly132Ala)
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.448C>T (p.His150Tyr) rs1060503206
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.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.521A>G (p.Glu174Gly)
NM_000368.4(TSC1):c.523G>T (p.Val175Phe) rs1564498330
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.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.4(TSC1):c.569G>A (p.Arg190His)
NM_000368.4(TSC1):c.580A>C (p.Met194Leu)
NM_000368.4(TSC1):c.581T>C (p.Met194Thr)
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.602C>T (p.Ser201Phe) rs1564498038
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.61G>T (p.Val21Leu)
NM_000368.4(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
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.664-6T>C
NM_000368.4(TSC1):c.670A>T (p.Met224Leu) rs535397245
NM_000368.4(TSC1):c.671T>A (p.Met224Lys)
NM_000368.4(TSC1):c.683G>A (p.Arg228Gln)
NM_000368.4(TSC1):c.689A>G (p.His230Arg)
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.70G>A (p.Asp24Asn)
NM_000368.4(TSC1):c.725T>C (p.Leu242Pro) rs1554819388
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.73G>A (p.Val25Met) rs1230244328
NM_000368.4(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.4(TSC1):c.759T>A (p.His253Gln)
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.779C>T (p.Ala260Val)
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.809C>T (p.Ser270Leu) rs878853968
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.824A>G (p.Tyr275Cys)
NM_000368.4(TSC1):c.826T>C (p.Ser276Pro)
NM_000368.4(TSC1):c.82G>C (p.Val28Leu)
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.857C>G (p.Pro286Arg) rs375144225
NM_000368.4(TSC1):c.871G>A (p.Asp291Asn)
NM_000368.4(TSC1):c.878C>G (p.Thr293Ser)
NM_000368.4(TSC1):c.880A>T (p.Thr294Ser)
NM_000368.4(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.4(TSC1):c.884G>C (p.Ser295Thr)
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.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.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.929C>T (p.Thr310Ile)
NM_000368.4(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
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.943T>A (p.Ser315Thr) rs185815387
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049
NM_000368.4(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_000368.4(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.4(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.4(TSC1):c.988C>A (p.Leu330Met) rs1060503222
NM_000368.4(TSC1):c.993T>A (p.Ser331Arg)

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