ClinVar Miner

List of variants in gene TSC2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1010
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HGVS dbSNP
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.4(TSC2):c.4495_4499delTTCGT (p.Phe1499Valfs) rs886041905
NM_000548.5(TSC2):c.*7G>A rs765016970
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-29-17C>T rs201044312
NM_000548.5(TSC2):c.-29-18C>T rs1319033169
NM_000548.5(TSC2):c.-30+134C>T
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.-30+25_-30+45del
NM_000548.5(TSC2):c.-30+2T>C rs796053514
NM_000548.5(TSC2):c.-30+5G>T rs991520392
NM_000548.5(TSC2):c.-34G>A rs559641280
NM_000548.5(TSC2):c.-36G>A rs903216714
NM_000548.5(TSC2):c.-38C>T rs796053481
NM_000548.5(TSC2):c.-40C>T rs1057521563
NM_000548.5(TSC2):c.-45G>T rs947662369
NM_000548.5(TSC2):c.-50_-43dup rs1416512705
NM_000548.5(TSC2):c.-51_-36delinsCGCGCTC rs1064794412
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) rs777988634
NM_000548.5(TSC2):c.1029C>A (p.Thr343=) rs45468201
NM_000548.5(TSC2):c.1032G>A (p.Arg344=) rs1057524033
NM_000548.5(TSC2):c.1059C>T (p.Leu353=) rs796053472
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.1071G>A (p.Ala357=) rs776395163
NM_000548.5(TSC2):c.1077C>T (p.Asp359=) rs1555500558
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1083G>A (p.Leu361=) rs1057524138
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg) rs1555500581
NM_000548.5(TSC2):c.1116C>T (p.Leu372=) rs587780973
NM_000548.5(TSC2):c.1119+233C>T
NM_000548.5(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.1120-16G>A rs768241936
NM_000548.5(TSC2):c.1120-17C>T rs201704675
NM_000548.5(TSC2):c.1120-93T>C rs17135764
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.113_114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1170G>A (p.Thr390=) rs376144933
NM_000548.5(TSC2):c.1194del (p.Asn398fs) rs886039736
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val) rs777172185
NM_000548.5(TSC2):c.1214A>T (p.Glu405Val) rs1057518321
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
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.1257+10C>T rs756063576
NM_000548.5(TSC2):c.1257+14C>T rs748972223
NM_000548.5(TSC2):c.1257+17G>T rs369939081
NM_000548.5(TSC2):c.1257+20G>A rs1436234038
NM_000548.5(TSC2):c.1257+8C>A rs767392684
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1258-16G>T rs979174870
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
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.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter) rs45493394
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.1298C>T (p.Ser433Phe) rs397515187
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.1308G>A (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1317C>T (p.Asp439=) rs777457815
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.131_132del (p.Ile44fs) rs1064793853
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
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.1342C>G (p.Leu448Val) rs1413875392
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys) rs1057520875
NM_000548.5(TSC2):c.134_138+1delinsC rs1057518535
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
NM_000548.5(TSC2):c.1361+13C>T rs900870796
NM_000548.5(TSC2):c.1361+16T>G rs45502491
NM_000548.5(TSC2):c.1361+18G>C rs140223009
NM_000548.5(TSC2):c.1361+20C>G rs538626543
NM_000548.5(TSC2):c.1362-10C>T rs45446697
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362-5C>T rs372424945
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
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.138+14C>G rs201204330
NM_000548.5(TSC2):c.138+16G>A rs1555494744
NM_000548.5(TSC2):c.138+20C>G rs45517092
NM_000548.5(TSC2):c.138+211T>C
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.139-15T>G rs563094714
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.1398G>A (p.Leu466=) rs200702857
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=) rs45514794
NM_000548.5(TSC2):c.1443+14C>A rs753454333
NM_000548.5(TSC2):c.1443+14C>T rs753454333
NM_000548.5(TSC2):c.1443+15G>A rs182743311
NM_000548.5(TSC2):c.1443+18C>T rs375947241
NM_000548.5(TSC2):c.1443+255C>T
NM_000548.5(TSC2):c.1443+256G>A
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1444-13T>C rs45447093
NM_000548.5(TSC2):c.1444-151C>T
NM_000548.5(TSC2):c.1444-201G>A
NM_000548.5(TSC2):c.1444-232C>T
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1455T>C (p.Ile485=) rs1239743041
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.1473G>A (p.Ser491=) rs764767361
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe) rs45517177
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178
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.1534C>G (p.Leu512Val) rs772834557
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs) rs796053503
NM_000548.5(TSC2):c.153A>G (p.Glu51=) rs746366461
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
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.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1599+10G>A rs376692777
NM_000548.5(TSC2):c.1599+19G>A rs777632769
NM_000548.5(TSC2):c.1600-10C>T rs768188836
NM_000548.5(TSC2):c.1600-14C>A rs45517185
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-310C>T
NM_000548.5(TSC2):c.1600-39C>T rs45477195
NM_000548.5(TSC2):c.1600-9T>C rs886043268
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603
NM_000548.5(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188
NM_000548.5(TSC2):c.1642A>C (p.Arg548=) rs565375272
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1716+15C>T rs199964793
NM_000548.5(TSC2):c.1716+16G>A rs45517189
NM_000548.5(TSC2):c.1716+183A>G
NM_000548.5(TSC2):c.1716+82T>C
NM_000548.5(TSC2):c.1717-12CT[3] rs769094940
NM_000548.5(TSC2):c.1717-15G>A rs372949465
NM_000548.5(TSC2):c.1717-15G>T rs372949465
NM_000548.5(TSC2):c.1717-16C>T rs45517191
NM_000548.5(TSC2):c.1717-20G>T rs1555505006
NM_000548.5(TSC2):c.1717-30G>A rs45500703
NM_000548.5(TSC2):c.1717-55T>C rs7187438
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=) rs966102111
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1740A>C (p.Ala580=) rs1057522755
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1751C>T (p.Thr584Met) rs751147419
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) rs753179817
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys) rs796053487
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn) rs374371998
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.1800C>T (p.His600=) rs762782913
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter) rs367553206
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=) rs367553206
NM_000548.5(TSC2):c.1815A>G (p.Pro605=) rs961687056
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.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1839+10C>T rs868388786
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+20G>A rs569912958
NM_000548.5(TSC2):c.1839+20G>C rs569912958
NM_000548.5(TSC2):c.1839+248C>T
NM_000548.5(TSC2):c.1839+269G>A
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1840-11C>G rs754804519
NM_000548.5(TSC2):c.1840-13C>G rs1186556063
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val) rs1057522306
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.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
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.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1932C>T (p.Cys644=) rs777665839
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) rs745414854
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1946+14C>T rs765322549
NM_000548.5(TSC2):c.1946+15G>A rs752601710
NM_000548.5(TSC2):c.1946+1G>T rs397514994
NM_000548.5(TSC2):c.1946+20C>T rs372149311
NM_000548.5(TSC2):c.1946+2T>A rs397515247
NM_000548.5(TSC2):c.1946+7G>A rs759576009
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-3C>T rs201106259
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) rs1555505954
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter) rs764225717
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.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.5(TSC2):c.2019G>A (p.Ala673=) rs772993105
NM_000548.5(TSC2):c.2028C>T (p.Gly676=) rs1057520807
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525
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.2046G>A (p.Gly682=) rs749536123
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814
NM_000548.5(TSC2):c.2065_2066CT[1] (p.Phe690fs) rs1064793524
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu) rs796053510
NM_000548.5(TSC2):c.2097+13G>A rs367915255
NM_000548.5(TSC2):c.2097+16_2097+20del rs1064794392
NM_000548.5(TSC2):c.2097+43A>G rs186681035
NM_000548.5(TSC2):c.2097+48G>T
NM_000548.5(TSC2):c.2098-114A>G
NM_000548.5(TSC2):c.2098-12C>G
NM_000548.5(TSC2):c.2098-18C>T
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2098-5C>T rs369072310
NM_000548.5(TSC2):c.2098-6T>C rs1057523252
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs) rs886041563
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) rs781153452
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.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2220+11C>T rs372555496
NM_000548.5(TSC2):c.2220+12G>A rs780039835
NM_000548.5(TSC2):c.2220+182C>T
NM_000548.5(TSC2):c.2220+20del rs1555506624
NM_000548.5(TSC2):c.2220+25G>C rs149860839
NM_000548.5(TSC2):c.2220+4C>G rs781186613
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2221-28A>G rs7196184
NM_000548.5(TSC2):c.2235G>A (p.Lys745=) rs762162898
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
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.225+19G>A rs980875984
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226-13C>T rs886038353
NM_000548.5(TSC2):c.226-338C>T
NM_000548.5(TSC2):c.226-82C>T
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) rs758234726
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+153A>G
NM_000548.5(TSC2):c.2355+20C>T rs1031112467
NM_000548.5(TSC2):c.2355+214G>T
NM_000548.5(TSC2):c.2355+5G>A rs756995937
NM_000548.5(TSC2):c.2355+6A>T rs904030973
NM_000548.5(TSC2):c.2355+8G>A rs199558375
NM_000548.5(TSC2):c.2356-15T>A rs189674303
NM_000548.5(TSC2):c.2356-176G>T
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-4G>A rs201156748
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2415C>T (p.Val805=) rs45517235
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe) rs796053489
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2436C>T (p.Ser812=) rs767178958
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
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.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr) rs1555507617
NM_000548.5(TSC2):c.2491dup (p.Thr831fs) rs1555507623
NM_000548.5(TSC2):c.2511C>G (p.Ala837=) rs145351030
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009
NM_000548.5(TSC2):c.2545+157G>C
NM_000548.5(TSC2):c.2545+18C>T rs771970930
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2545+31C>T rs45517243
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2545+9C>G rs369385105
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438
NM_000548.5(TSC2):c.2546-10A>G rs551894111
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-4G>A rs746958032
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2546-6C>T rs372088609
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2562G>A (p.Pro854=) rs779606786
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386
NM_000548.5(TSC2):c.2577C>T (p.Asn859=) rs1555508337
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs) rs886042032
NM_000548.5(TSC2):c.2583C>T (p.Ala861=) rs144924053
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249
NM_000548.5(TSC2):c.2586G>A (p.Ala862=) rs752865665
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2601T>C (p.Ser867=) rs878854086
NM_000548.5(TSC2):c.2610C>T (p.Ala870=) rs755870234
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2622G>T (p.Pro874=) rs141486629
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783
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.2639+10C>T rs137854378
NM_000548.5(TSC2):c.2639+11G>A rs1057520919
NM_000548.5(TSC2):c.2639+14C>G rs1057520927
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2640-10C>G rs964883731
NM_000548.5(TSC2):c.2640-13C>T rs201184637
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2640-65C>T
NM_000548.5(TSC2):c.2640-74G>A
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu) rs999523698
NM_000548.5(TSC2):c.2658G>A (p.Val886=) rs1035837417
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr) rs796053491
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) rs45517255
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
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.273G>A (p.Pro91=) rs772296140
NM_000548.5(TSC2):c.2742+13C>T rs45517260
NM_000548.5(TSC2):c.2742+14C>T rs765251896
NM_000548.5(TSC2):c.2742+15G>A rs45517261
NM_000548.5(TSC2):c.2742+20A>C rs1057521395
NM_000548.5(TSC2):c.2742+4G>A rs587781683
NM_000548.5(TSC2):c.2742+6C>G rs377568673
NM_000548.5(TSC2):c.2742+6C>T rs377568673
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-16G>A rs896016432
NM_000548.5(TSC2):c.2743-18G>A rs199539512
NM_000548.5(TSC2):c.2743-19G>A rs539121865
NM_000548.5(TSC2):c.2743-3C>A rs45517264
NM_000548.5(TSC2):c.2743-7C>G rs566118686
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2743-9C>T rs397515319
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.5(TSC2):c.2761_2762CT[3] (p.Leu922fs) rs1555508917
NM_000548.5(TSC2):c.2778C>T (p.Asp926=) rs776069297
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp) rs878854087
NM_000548.5(TSC2):c.282G>A (p.Pro94=) rs145624233
NM_000548.5(TSC2):c.2837+12G>A rs755041349
NM_000548.5(TSC2):c.2837+286T>G
NM_000548.5(TSC2):c.2837+4C>T rs544409858
NM_000548.5(TSC2):c.2837+5G>A rs786203791
NM_000548.5(TSC2):c.2838-16C>T
NM_000548.5(TSC2):c.2838-282A>C
NM_000548.5(TSC2):c.2838-372C>T
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer) rs1057518322
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs) rs1555509491
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
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.2961C>G (p.Val987=) rs775637322
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2966+121C>G
NM_000548.5(TSC2):c.2966+15G>A rs779884344
NM_000548.5(TSC2):c.2966+19G>T rs377514748
NM_000548.5(TSC2):c.2966+217G>T
NM_000548.5(TSC2):c.2967-118T>C
NM_000548.5(TSC2):c.2967-185C>T
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009
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.2982C>A (p.Ser994=) rs1555510188
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=) rs756679047
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=) rs149098424
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=) rs373950550
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr) rs1057522974
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) rs137854015
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099C>T (p.Tyr1033=) rs45464800
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala) rs45517281
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.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>A rs397515036
NM_000548.5(TSC2):c.3131+8C>T rs763702215
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.3176C>G (p.Thr1059Ser) rs753205147
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs) rs1555510579
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=) rs1064794201
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs) rs1057518448
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.324C>T (p.Ile108=) rs973500815
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter) rs1085307762
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=) rs1555510717
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.5(TSC2):c.3284+20C>T rs1057521477
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.336+14C>T rs570065416
NM_000548.5(TSC2):c.336+233T>C rs144712953
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.336+8C>T rs779174834
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+126C>T
NM_000548.5(TSC2):c.3397+15C>T rs202246408
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3398-140C>T
NM_000548.5(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.5(TSC2):c.3404del (p.His1135fs) rs1064793464
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln) 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.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val) rs796053495
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.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3452del (p.Gly1151fs) rs1131691419
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg) rs772215032
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=) rs147242130
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468
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.3485C>T (p.Pro1162Leu) rs778069675
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.3520C>T (p.Arg1174Trp) rs529298825
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=) rs201305783
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=) rs549427685
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val) rs1057521812
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.3565del (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3610+168G>A
NM_000548.5(TSC2):c.3610+170A>C
NM_000548.5(TSC2):c.3610+214C>T
NM_000548.5(TSC2):c.3610+226C>T
NM_000548.5(TSC2):c.3610+266C>T
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3610+9C>T rs45467194
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3611-4G>A rs368926908
NM_000548.5(TSC2):c.3611-4G>T rs368926908
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=) rs1057522260
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) rs796053496
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=) rs1358537146
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=) rs747862818
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=) rs777246414
NM_000548.5(TSC2):c.3653del (p.Pro1218fs) rs1057518201
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=) rs749870079
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=) rs876659207
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159
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.3727G>T (p.Glu1243Ter) rs1057520759
NM_000548.5(TSC2):c.3736del (p.Asp1246fs) rs796053516
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs) rs796053506
NM_000548.5(TSC2):c.3739del (p.Thr1247fs) rs796053517
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432
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.3779C>T (p.Thr1260Met) rs776738338
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959
NM_000548.5(TSC2):c.3814+10A>G rs200309006
NM_000548.5(TSC2):c.3814+141C>T
NM_000548.5(TSC2):c.3814+15G>A rs201225719
NM_000548.5(TSC2):c.3815-155A>G
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3815-16C>T rs546810161
NM_000548.5(TSC2):c.3815-18C>A rs947736117
NM_000548.5(TSC2):c.3815-20C>T rs201878712
NM_000548.5(TSC2):c.3815-308T>C
NM_000548.5(TSC2):c.3815-3C>T rs770054036
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382
NM_000548.5(TSC2):c.3821_3833del (p.Ser1274fs) rs1064794126
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs) rs796053518
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3883+15_3883+16del rs137854278
NM_000548.5(TSC2):c.3883+66G>A
NM_000548.5(TSC2):c.3883+78G>A rs1800705
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3884-16G>A rs544004178
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-68C>T
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter) rs886039680
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.3939G>T (p.Glu1313Asp) rs149340262
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter) rs1064793797
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=) rs757244510
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825
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.3993T>A (p.Asp1331Glu) rs776049462
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro) rs1555513574
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4006-12G>A rs1057524490
NM_000548.5(TSC2):c.4006-19T>G rs200900825
NM_000548.5(TSC2):c.4006-1G>A rs1085307853
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp) rs752502287
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
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.4056G>C (p.Leu1352=) rs772309833
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497
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.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs) rs1064793573
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser) rs747293303
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) rs1173061992
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.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) rs1555514063
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=) rs1057521540
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser) rs1057520843
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
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.4198G>A (p.Asp1400Asn) rs762368225
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
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.4218C>T (p.Asp1406=) rs886051794
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) rs768684515
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) rs1057522238
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs) rs886041573
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.428del (p.Phe143fs) rs1057518508
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.429C>G (p.Phe143Leu) rs137854406
NM_000548.5(TSC2):c.429C>T (p.Phe143=) rs137854406
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) rs769286175
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=) rs373973956
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser) rs373018205
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly) rs199644840
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4493+16C>G rs45491597
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.4493+18G>A rs45454201
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4494-11dup rs770333078
NM_000548.5(TSC2):c.4494-15C>G rs993595235
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
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.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=) rs201126835
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) rs74363455
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4544del (p.Asn1515fs) rs886041789
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs) rs886041643
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-3C>T rs1166715944
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.5(TSC2):c.4662+10C>T rs371195832
NM_000548.5(TSC2):c.4662+16C>T rs45517356
NM_000548.5(TSC2):c.4662+17G>A rs45443002
NM_000548.5(TSC2):c.4662+18G>A rs45517357
NM_000548.5(TSC2):c.4662+2_4662+6del rs796053520
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4663-14C>T rs397515174
NM_000548.5(TSC2):c.4663-16_4663-15del rs796053477
NM_000548.5(TSC2):c.4663-38_4663-18dup rs137854102
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709
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.4684C>T (p.Leu1562=) rs1057523304
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.5(TSC2):c.481+12C>T rs777645015
NM_000548.5(TSC2):c.481+8C>T rs758228838
NM_000548.5(TSC2):c.481+9C>T rs201026150
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103
NM_000548.5(TSC2):c.482-114T>C
NM_000548.5(TSC2):c.482-17C>T rs201589515
NM_000548.5(TSC2):c.482-1G>A rs137854306
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.4849+13G>A rs780953278
NM_000548.5(TSC2):c.4849+20C>T rs140884776
NM_000548.5(TSC2):c.4849+3A>G rs1057521378
NM_000548.5(TSC2):c.4849+4C>T rs370426490
NM_000548.5(TSC2):c.4849+97del rs142421783
NM_000548.5(TSC2):c.4850-109T>C rs13335638
NM_000548.5(TSC2):c.4850-19C>T rs45517376
NM_000548.5(TSC2):c.4850-8A>G rs372258482
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=) rs556045045
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4881del (p.Lys1628fs) rs1064793646
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=) rs397514999
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398
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.4917C>T (p.Arg1639=) rs1057524144
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4947C>G (p.Val1649=) rs778989782
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4989+107A>C
NM_000548.5(TSC2):c.4989+12G>A rs1343916460
NM_000548.5(TSC2):c.4989+15G>A rs199610889
NM_000548.5(TSC2):c.4989+5G>A rs1057522671
NM_000548.5(TSC2):c.4990-3C>T rs777928103
NM_000548.5(TSC2):c.4990-5G>T rs753000765
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=) rs145002269
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
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.5034C>T (p.Tyr1678=) rs45467993
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=) rs200700923
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5069-26_5069-6delinsGCCAAGAG rs1555439968
NM_000548.5(TSC2):c.5069-2A>C rs45487291
NM_000548.5(TSC2):c.5069-8C>T rs796053478
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) rs370864445
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.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.5120A>G (p.Asn1707Ser) rs772439098
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.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr) rs796053500
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5160+2_5160+3del rs137854036
NM_000548.5(TSC2):c.5160+6_5160+27del rs1555440243
NM_000548.5(TSC2):c.5160+7G>C rs45506600
NM_000548.5(TSC2):c.5161-12C>G rs1555440351
NM_000548.5(TSC2):c.5161-15_5161-3del rs1555440326
NM_000548.5(TSC2):c.5161-20C>T rs200315428
NM_000548.5(TSC2):c.5161-8G>A rs374674097
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs) rs1555440437
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp) rs1555440500
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs) rs886041940
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=) rs45517410
NM_000548.5(TSC2):c.5214del (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=)
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) rs766093661
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.5251C>T (p.Arg1751Cys) rs781630603
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5259+9T>C rs1057522018
NM_000548.5(TSC2):c.5260-12C>T rs769264472
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5260-1G>C rs1057518103
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5260-49C>T rs13332221
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5262del (p.Cys1755fs) rs796053507
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=) rs769507440
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.5313G>A (p.Pro1771=) rs765607686
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=) rs751622894
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro) rs989487316
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=) rs1057522896
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) rs397515221
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.5370G>C (p.Val1790=) rs762032752
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.5389A>C (p.Ile1797Leu) rs796053479
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs) rs1085307666
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5391_5393CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) rs778484981
NM_000548.5(TSC2):c.5397G>A (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.581dup (p.Tyr194Ter) rs1555498221
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113
NM_000548.5(TSC2):c.599+10G>C rs1037449903
NM_000548.5(TSC2):c.599+17G>C rs533989586
NM_000548.5(TSC2):c.599+241G>T
NM_000548.5(TSC2):c.599+327G>A
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.600-15C>T rs369708731
NM_000548.5(TSC2):c.600-84C>T rs35364892
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094
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.648+14C>T rs941595244
NM_000548.5(TSC2):c.648+17C>A rs755431618
NM_000548.5(TSC2):c.648+19C>T rs1196860918
NM_000548.5(TSC2):c.648+6T>C rs372007135
NM_000548.5(TSC2):c.649-12C>A
NM_000548.5(TSC2):c.649-20G>A rs377558380
NM_000548.5(TSC2):c.657G>A (p.Leu219=) rs768570301
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.663G>A (p.Val221=) rs774115464
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.696G>A (p.Pro232=) rs539797467
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe) rs796053502
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.775-14_775-13del rs1555499015
NM_000548.5(TSC2):c.775-16G>C rs1359566041
NM_000548.5(TSC2):c.775-17C>T rs137854299
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
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.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076
NM_000548.5(TSC2):c.824dup (p.Asn275fs) rs886041922
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.831C>T (p.Cys277=) rs1057523424
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709
NM_000548.5(TSC2):c.83C>A (p.Pro28His) rs1057522105
NM_000548.5(TSC2):c.848+113A>G
NM_000548.5(TSC2):c.848+13G>T rs1402619251
NM_000548.5(TSC2):c.848+19G>A rs1044793633
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+20C>T rs1459744028
NM_000548.5(TSC2):c.848+276C>G
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136
NM_000548.5(TSC2):c.861G>A (p.Glu287=) rs192567788
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788
NM_000548.5(TSC2):c.885C>T (p.Ala295=) rs778296481
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter) rs886041758
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.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.975+13C>T rs200564575
NM_000548.5(TSC2):c.975+16T>C rs769084318
NM_000548.5(TSC2):c.975+7C>T rs372463702
NM_000548.5(TSC2):c.975+8G>A rs137853984
NM_000548.5(TSC2):c.976-100C>G
NM_000548.5(TSC2):c.976-10C>A rs765990217
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-3C>T rs45517151
NM_000548.5(TSC2):c.976-44G>A
NM_000548.5(TSC2):c.976-63G>A rs12927333
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469

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