ClinVar Miner

List of variants in gene TSC2 reported by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 651
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.4(TSC2):c.2640-4_2640-3delTC rs1555508570
NM_000548.5(TSC2):c.*4C>T rs368282661
NM_000548.5(TSC2):c.*5G>A rs201342697
NM_000548.5(TSC2):c.101A>G (p.Lys34Arg) rs777988634
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg) rs748109163
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1120-5T>C rs896351318
NM_000548.5(TSC2):c.1131C>T (p.Ser377=) rs201525586
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1154A>G (p.His385Arg) rs757353933
NM_000548.5(TSC2):c.1170G>A (p.Thr390=) rs376144933
NM_000548.5(TSC2):c.1182G>A (p.Leu394=) rs779951754
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275
NM_000548.5(TSC2):c.119T>C (p.Ile40Thr) rs587781758
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln) rs765622787
NM_000548.5(TSC2):c.123C>T (p.Thr41=) rs1060504100
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185
NM_000548.5(TSC2):c.1258-5G>T rs925954967
NM_000548.5(TSC2):c.1260G>A (p.Glu420=) rs876658585
NM_000548.5(TSC2):c.1260G>T (p.Glu420Asp) rs876658585
NM_000548.5(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter) rs1114167462
NM_000548.5(TSC2):c.1299C>T (p.Ser433=) rs993220492
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.130A>G (p.Ile44Val) rs1555494697
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.1341G>A (p.Ala447=) rs141609319
NM_000548.5(TSC2):c.1362-5C>T rs372424945
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly) rs876659386
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1404G>T (p.Val468=) rs778247396
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1473G>A (p.Ser491=) rs764767361
NM_000548.5(TSC2):c.1494G>A (p.Glu498=) rs780112077
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1565A>G (p.His522Arg) rs397515147
NM_000548.5(TSC2):c.1566C>T (p.His522=) rs876659982
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val) rs786203470
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1600-2A>G rs1114167466
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr) rs891347695
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser) rs1060500944
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr) rs777121421
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val) rs1555503231
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr) rs1555503254
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1686A>T (p.Thr562=) rs755900760
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg) rs1060500926
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser) rs45517196
NM_000548.5(TSC2):c.1746C>T (p.His582=) rs876658921
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063
NM_000548.5(TSC2):c.1758G>A (p.Val586=) rs1555505092
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln) rs1161261925
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=) rs367553206
NM_000548.5(TSC2):c.1807A>T (p.Thr603Ser) rs876660140
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.5(TSC2):c.1854G>C (p.Leu618=) rs1060504088
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1863G>A (p.Leu621=) rs1485599658
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1883G>A (p.Arg628His) rs774895427
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn) rs1060500932
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484
NM_000548.5(TSC2):c.1932C>T (p.Cys644=) rs777665839
NM_000548.5(TSC2):c.1937G>A (p.Cys646Tyr) rs1555505863
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610
NM_000548.5(TSC2):c.1946+4C>T rs752017577
NM_000548.5(TSC2):c.1946+5G>T rs766646261
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-3C>T rs201106259
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile) rs775845436
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys) rs876658202
NM_000548.5(TSC2):c.1960G>A (p.Gly654Ser) rs397515114
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.1977C>T (p.Thr659=) rs369065703
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) rs137854103
NM_000548.5(TSC2):c.1990T>G (p.Ser664Ala) rs1555506028
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu) rs1555506090
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) rs754556513
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2034C>T (p.Ala678=) rs781740263
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218
NM_000548.5(TSC2):c.2038C>G (p.Arg680Gly)
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp) rs876658578
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu) rs1555506150
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2098-3C>T rs876660489
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2098-5C>T rs369072310
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer) rs1555506395
NM_000548.5(TSC2):c.2122C>T (p.Leu708=) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2153G>A (p.Arg718His) rs45517215
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215
NM_000548.5(TSC2):c.2163G>A (p.Val721=) rs552644975
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2178C>G (p.Ser726=) rs1380835459
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu) rs767086409
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.2220+4C>G rs781186613
NM_000548.5(TSC2):c.2221-5A>G rs1555506829
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met) rs45517221
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736
NM_000548.5(TSC2):c.2255G>A (p.Gly752Asp) rs876660553
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) rs574205203
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys) rs45517223
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val) rs777614710
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2301T>A (p.Val767=) rs531724951
NM_000548.5(TSC2):c.2313A>G (p.Thr771=) rs876658215
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984
NM_000548.5(TSC2):c.2322C>T (p.Ile774=) rs760885994
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp) rs1060500946
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2356-4G>A rs201156748
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379
NM_000548.5(TSC2):c.2370C>T (p.Tyr790=) rs45517232
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs) rs1114167463
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2454C>T (p.Ile818=) rs786201599
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val) rs936484229
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2490C>T (p.Leu830=) rs768573698
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2526A>G (p.Pro842=) rs753466189
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.5(TSC2):c.2607C>T (p.Phe869=) rs750336814
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) rs138527121
NM_000548.5(TSC2):c.2622G>A (p.Pro874=) rs141486629
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2640-5C>T rs753781434
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2742+4G>A rs587781683
NM_000548.5(TSC2):c.2743-3C>A rs45517264
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.5(TSC2):c.2763C>T (p.Leu921=) rs771817176
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile) rs144329595
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys) rs45517268
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2820C>G (p.Leu940=) rs876659493
NM_000548.5(TSC2):c.2837+4C>T rs544409858
NM_000548.5(TSC2):c.2837+5G>A rs786203791
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2844G>A (p.Arg948=) rs1060504114
NM_000548.5(TSC2):c.2854C>A (p.Pro952Thr) rs745456980
NM_000548.5(TSC2):c.2856C>A (p.Pro952=) rs876660401
NM_000548.5(TSC2):c.2866G>A (p.Gly956Ser) rs769199118
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2886C>T (p.Pro962=) rs140202176
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2926C>A (p.Arg976=) rs769527912
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.5(TSC2):c.292C>A (p.Arg98=) rs372321790
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) rs768241596
NM_000548.5(TSC2):c.2933G>A (p.Arg978His) rs876660733
NM_000548.5(TSC2):c.2958G>A (p.Val986=) rs1114167464
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2964C>A (p.Arg988=) rs757274577
NM_000548.5(TSC2):c.2966+5C>T rs767328300
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.301G>A (p.Val101Met) rs878854089
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn) rs45517279
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=) rs373950550
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs) rs1114167461
NM_000548.5(TSC2):c.30C>T (p.Gly10=) rs876659726
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=) rs1031918517
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) rs147989574
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp) rs78956195
NM_000548.5(TSC2):c.3241C>T (p.Leu1081=) rs1555510658
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu) rs45517287
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=) rs750617693
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del) rs137854302
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp) rs397514887
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg) rs773545852
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.5(TSC2):c.3317A>T (p.Lys1106Met) rs764113584
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) rs45478393
NM_000548.5(TSC2):c.3327G>T (p.Pro1109=) rs45478393
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=) rs1555510912
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=) rs867238767
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu) rs137854074
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.3411T>G (p.Leu1137=) rs876660766
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro) rs143168379
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3421_3453del (p.Ala1141_Gly1151del) rs1114167467
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro) rs1217539900
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu) rs1265832990
NM_000548.5(TSC2):c.3469G>A (p.Gly1157Arg) rs1555511390
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) rs45473098
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=) rs1555511474
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu) rs753110463
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391
NM_000548.5(TSC2):c.3540G>T (p.Lys1180Asn) rs1555511520
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=) rs549427685
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.357C>G (p.Leu119=) rs1168763677
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533
NM_000548.5(TSC2):c.358_359AG[1] (p.Arg120fs) rs876658878
NM_000548.5(TSC2):c.3610+4C>T rs201978396
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3612G>A (p.Gly1204=) rs1555512292
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.366C>T (p.Leu122=) rs1397677711
NM_000548.5(TSC2):c.3679C>T (p.Pro1227Ser) rs1555512392
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=) rs876659207
NM_000548.5(TSC2):c.3698A>G (p.Asn1233Ser) rs1412376534
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn) rs778928295
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3774C>T (p.Ala1258=) rs876659596
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.5(TSC2):c.3777del (p.Ser1259fs) rs1114167459
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312
NM_000548.5(TSC2):c.3791_3793CTC[1] (p.Pro1265del) rs876658759
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3815-3C>T rs770054036
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3883+5C>T rs45448994
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3936G>A (p.Val1312=) rs876659932
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3980A>G (p.Asp1327Gly) rs1555513553
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956
NM_000548.5(TSC2):c.4008G>T (p.Ser1336=) rs760704956
NM_000548.5(TSC2):c.4017C>T (p.Val1339=) rs876658217
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=) rs756763596
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) rs373982157
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=) rs786203798
NM_000548.5(TSC2):c.4089C>T (p.Val1363=) rs1036544111
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=) rs139630605
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=) rs769653533
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=) rs1244952951
NM_000548.5(TSC2):c.418C>T (p.Leu140=) rs1555497657
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.420G>A (p.Leu140=) rs876660078
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly) rs876659933
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4323C>G (p.Pro1441=) rs536527623
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter) rs45469392
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln) rs1555514409
NM_000548.5(TSC2):c.4392C>G (p.Ser1464=) rs528080018
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=) rs539032553
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770
NM_000548.5(TSC2):c.4418_4419AG[2] (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=) rs1555514573
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337
NM_000548.5(TSC2):c.4467A>C (p.Ala1489=) rs876660324
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser) rs1029118280
NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp) rs1221986548
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.450G>A (p.Gly150=) rs372000734
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) rs764903148
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=) rs1204199739
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226
NM_000548.5(TSC2):c.4558C>T (p.Leu1520=) rs374687688
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile) rs144062721
NM_000548.5(TSC2):c.4569+4G>A rs1051944517
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr) rs796053498
NM_000548.5(TSC2):c.457A>G (p.Ile153Val) rs1555497700
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=) rs768431568
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883
NM_000548.5(TSC2):c.4605C>A (p.Asp1535Glu) rs1555515283
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser) rs876659806
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.4764G>C (p.Gln1588His) rs876659800
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=) rs45517368
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=) rs377474730
NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp) rs1177233720
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser) rs759795928
NM_000548.5(TSC2):c.4833C>T (p.His1611=) rs765271161
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr) rs886051795
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=) rs876660657
NM_000548.5(TSC2):c.4840A>C (p.Ile1614Leu) rs1555516299
NM_000548.5(TSC2):c.4847A>G (p.Gln1616Arg) rs1555516313
NM_000548.5(TSC2):c.4849+4C>T rs370426490
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) rs377129517
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=) rs150239180
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=) rs786203263
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) rs201694466
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=) rs397514999
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=) rs137854094
NM_000548.5(TSC2):c.4923G>A (p.Leu1641=) rs1555438590
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=) rs1283177454
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4990-3C>T rs777928103
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) rs1555498118
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=) rs777184691
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly) rs1555439802
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=) rs200700923
NM_000548.5(TSC2):c.5069-3_5069-2del rs1114167460
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5109G>C (p.Val1703=) rs770413433
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5137C>A (p.Arg1713Ser) rs759420443
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val) rs397514974
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500
NM_000548.5(TSC2):c.5161-2A>G rs1114167468
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys) rs753336580
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279
NM_000548.5(TSC2):c.5197_5211del (p.Thr1733_Pro1737del) rs1555440518
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=) rs778378296
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=) rs1308899138
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys) rs45517411
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=) rs150038278
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=) rs370353005
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln) rs749487441
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) rs141449031
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser) rs779621136
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) rs1051758
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265
NM_000548.5(TSC2):c.5307C>T (p.His1769=) rs562220073
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala) rs781226141
NM_000548.5(TSC2):c.532C>T (p.Leu178=) rs1465941679
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys) rs45517112
NM_000548.5(TSC2):c.581A>G (p.Tyr194Cys) rs1555498219
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.629C>T (p.Ala210Val) rs764925296
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.655C>T (p.Leu219=) rs369046625
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.687C>T (p.Asn229=) rs1555498802
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) rs760100924
NM_000548.5(TSC2):c.696G>A (p.Pro232=) rs539797467
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957
NM_000548.5(TSC2):c.704G>C (p.Ser235Thr) rs397514957
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.709C>T (p.Pro237Ser) rs1555498859
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg) rs139060277
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys) rs375574283
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter) rs1114167465
NM_000548.5(TSC2):c.753G>A (p.Glu251=) rs876660338
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.5(TSC2):c.775-4G>A rs754957491
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703
NM_000548.5(TSC2):c.807C>T (p.Gly269=) rs1297815371
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys) rs1305592691
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709
NM_000548.5(TSC2):c.849-4T>C rs752614339
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.866C>T (p.Ala289Val) rs755631210
NM_000548.5(TSC2):c.867G>A (p.Ala289=) rs375163125
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475
NM_000548.5(TSC2):c.934C>G (p.Leu312Val) rs755368431
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe) rs755368431
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.951A>G (p.Thr317=) rs767275578
NM_000548.5(TSC2):c.954T>A (p.Ser318=) rs1328588034
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772
NM_000548.5(TSC2):c.976-3C>T rs45517151
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser) rs370230541
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086

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