ClinVar Miner

List of variants reported as not provided by Tuberous sclerosis database (TSC2)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1618
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HGVS dbSNP
NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs)
NM_000548.3(TSC2):c.1258-?_1599+?del (p.?)
NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs) rs606231381
NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs) rs137854341
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5068+27_5069-47dup34 rs137854209
NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs) rs137854332
NM_000548.3(TSC2):c.[3623_3647del;3745_3756dup]
NM_000548.3(TSC2):c.[4358_4359delCC; 4361_4372del12]
NM_000548.3(TSC2):c.[4621_4629del9;4621_4634ins14]
NM_000548.3(TSC2):c.[976-20T>A;976-17_976-1dup]
NM_000548.3:c.*61insG
NM_000548.3:c.3673_3674insNNNNN rs1567510271
NM_000548.3:c.3884-15G>A
NM_000548.3:c.971_1027del
NM_000548.3:c.[2355+2_2355+5del(+)2355+6_2355+15dup]
NM_000548.4(TSC2):c.*67_*69delTGAins5
NM_000548.4(TSC2):c.139_140del (p.Glu47Thrfs) rs137853979
NM_000548.4(TSC2):c.1600_1716del (p.Val534_Gln572del) rs137854159
NM_000548.4(TSC2):c.1717_1839del (p.Thr573_Gln613del) rs137854119
NM_000548.4(TSC2):c.2647_2648ins24
NM_000548.4(TSC2):c.2836_2837ins37
NM_000548.4(TSC2):c.2967-?_3610+?del
NM_000548.4(TSC2):c.3124_3125ins20
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.4(TSC2):c.3611_3627dup (p.Met1210Glyfs) rs137854088
NM_000548.4(TSC2):c.3612del (p.Asn1205Thrfs) rs397515150
NM_000548.4(TSC2):c.4403_4404ins27
NM_000548.4(TSC2):c.4598_4599ins29
NM_000548.4(TSC2):c.4663_4664del (p.Ser1555Glnfs) rs137854118
NM_000548.4(TSC2):c.4920_4921ins17
NM_000548.4(TSC2):c.4991delG (p.Gly1664Alafs) rs137854064
NM_000548.5(TSC2):c.*127T>C rs34379884
NM_000548.5(TSC2):c.*127T>G rs34379884
NM_000548.5(TSC2):c.*128G>A rs730882074
NM_000548.5(TSC2):c.*145del rs202247051
NM_000548.5(TSC2):c.*154dup rs397514891
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*62_*63del rs397515122
NM_000548.5(TSC2):c.*6G>A rs397515008
NM_000548.5(TSC2):c.*71C>A rs45498900
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1001T>G (p.Val334Gly) rs45484892
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1005C>G (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1007_1008del (p.Ser335_Tyr336insTer) rs397515002
NM_000548.5(TSC2):c.1009G>A (p.Glu337Lys) rs45517145
NM_000548.5(TSC2):c.1009G>T (p.Glu337Ter) rs45517145
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs) rs137854269
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) rs397515192
NM_000548.5(TSC2):c.1029C>T (p.Thr343=) rs45468201
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg) rs45451295
NM_000548.5(TSC2):c.103C>T (p.Gln35Ter) rs137854105
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898
NM_000548.5(TSC2):c.1042A>T (p.Lys348Ter) rs45517146
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1080dup (p.Leu361fs) rs397515198
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro) rs45517147
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1090_1092ATC[1] (p.Ile365del) rs137854367
NM_000548.5(TSC2):c.1094_1095del (p.Ile365fs) rs137854423
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1099del (p.Arg367fs) rs397515273
NM_000548.5(TSC2):c.109dup (p.Glu37fs) rs137854178
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro) rs1800725
NM_000548.5(TSC2):c.1101G>A (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.1117C>T (p.Gln373Ter) rs45458694
NM_000548.5(TSC2):c.1118A>C (p.Gln373Pro) rs397515131
NM_000548.5(TSC2):c.1119+1G>A rs45475793
NM_000548.5(TSC2):c.1119+23G>A rs180840428
NM_000548.5(TSC2):c.1119+2T>G rs137854173
NM_000548.5(TSC2):c.1119+6G>C rs397515305
NM_000548.5(TSC2):c.1120-93T>C rs17135764
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1135del (p.Glu379fs) rs137854072
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys) rs45465395
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1143_1174del (p.Thr382fs) rs137854007
NM_000548.5(TSC2):c.1143del (p.Thr382fs) rs397514970
NM_000548.5(TSC2):c.114del (p.Phe38fs) rs137854355
NM_000548.5(TSC2):c.114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile) rs397514881
NM_000548.5(TSC2):c.1151T>A (p.Val384Asp) rs397515214
NM_000548.5(TSC2):c.115del (p.Ile39fs) rs397515078
NM_000548.5(TSC2):c.1160T>C (p.Leu387Pro) rs397515123
NM_000548.5(TSC2):c.1160_1167del (p.Leu387fs) rs137854398
NM_000548.5(TSC2):c.1167del (p.Thr390fs) rs137854283
NM_000548.5(TSC2):c.120del (p.Thr41fs) rs397515085
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp) rs45517156
NM_000548.5(TSC2):c.1220_1221del (p.Tyr407fs) rs137854080
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1224dup (p.Glu409Ter) rs137854089
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs) rs137854127
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1234del (p.Glu412fs) rs397515027
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val) rs137854026
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr) rs45517157
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+107dup rs397514987
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+21G>A rs397514998
NM_000548.5(TSC2):c.1257+221_1257+226del rs137854370
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1258-1G>A rs397515182
NM_000548.5(TSC2):c.1258-2A>C rs45517160
NM_000548.5(TSC2):c.1258-30G>T rs397515172
NM_000548.5(TSC2):c.1258-32C>G rs137854285
NM_000548.5(TSC2):c.1258-32dup rs397515240
NM_000548.5(TSC2):c.1258-3C>G rs45517161
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs) rs137854238
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.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.1336C>T (p.Gln446Ter) rs45517163
NM_000548.5(TSC2):c.1337_1340dup (p.Leu448fs) rs137854318
NM_000548.5(TSC2):c.1337del (p.Gln446fs) rs137854311
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.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1347G>C (p.Met449Ile) rs45443091
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter) rs45491095
NM_000548.5(TSC2):c.1348_1349GA[2] (p.Arg451fs) rs397515082
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+2T>C rs397515301
NM_000548.5(TSC2):c.1361+2T>G rs397515301
NM_000548.5(TSC2):c.1361+54_1361+57del rs137854304
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-2A>G rs45517165
NM_000548.5(TSC2):c.1362-30dup rs137853980
NM_000548.5(TSC2):c.1362-32C>G rs45517166
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362-62G>C rs45517167
NM_000548.5(TSC2):c.1362-70A>C rs45517168
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
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.138+1G>A rs45517091
NM_000548.5(TSC2):c.138+20C>G rs45517092
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.138+2_138+3del rs397515056
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1383_1384GC[3] (p.Ile463fs) rs397515037
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys) rs397515261
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1385_1386delinsCT (p.Arg462Pro) rs137854323
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala) rs45517093
NM_000548.5(TSC2):c.1407del (p.Ser470fs) rs137854390
NM_000548.5(TSC2):c.1410del (p.Phe471fs) rs137854066
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp) rs137854133
NM_000548.5(TSC2):c.1425del (p.Asn476fs) rs397515234
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter) rs45514794
NM_000548.5(TSC2):c.1443+18C>T rs375947241
NM_000548.5(TSC2):c.1443+1G>T rs397515257
NM_000548.5(TSC2):c.1443+2T>G rs397515064
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1443G>A (p.Glu481=) rs137854876
NM_000548.5(TSC2):c.1444-13T>C rs45447093
NM_000548.5(TSC2):c.1444-14T>C rs45517173
NM_000548.5(TSC2):c.1444-1G>A rs45515902
NM_000548.5(TSC2):c.1444-1G>T rs45515902
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1444-40G>A rs45460191
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile) rs45486599
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val) rs45517175
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter) rs45517176
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro) rs397515029
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1491del (p.Glu498fs) rs137854346
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) rs45517178
NM_000548.5(TSC2):c.1505del (p.His502fs) rs397514948
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1508del (p.Gln503fs) rs397514993
NM_000548.5(TSC2):c.1508dup (p.Val504fs) rs397515210
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1546del (p.Ala516fs) rs397515272
NM_000548.5(TSC2):c.1555del (p.Cys519fs) rs137854275
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr) rs397514991
NM_000548.5(TSC2):c.1564del (p.His522fs) rs137854297
NM_000548.5(TSC2):c.1564dup (p.His522fs) rs397515016
NM_000548.5(TSC2):c.1565A>C (p.His522Pro) rs397515147
NM_000548.5(TSC2):c.1566_1567dup (p.His523fs) rs397514961
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1579_1582del (p.Leu527fs) rs137854246
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1583_1584del (p.Leu528fs) rs397514885
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.1599+16C>T rs45517181
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+1G>T rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1599+82_1599+84del rs397515135
NM_000548.5(TSC2):c.1599G>A (p.Lys533=) rs1555502589
NM_000548.5(TSC2):c.1599G>C (p.Lys533Asn) rs1555502589
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-21G>C rs137854149
NM_000548.5(TSC2):c.1600-30dup rs397515089
NM_000548.5(TSC2):c.1600-39C>T rs45477195
NM_000548.5(TSC2):c.1600-3A>G rs45517186
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val) rs45517187
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs) rs397515148
NM_000548.5(TSC2):c.1611C>T (p.Arg537=) rs45469702
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs) rs137854281
NM_000548.5(TSC2):c.1616del (p.Leu539fs) rs137854100
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1630del (p.Glu544fs) rs397514931
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp) rs137854075
NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs) rs137854342
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs) rs137854245
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) rs45471596
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.1693del (p.Leu565fs) rs137854087
NM_000548.5(TSC2):c.1698_1716+1del rs397515151
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val) rs397515230
NM_000548.5(TSC2):c.1708_1710dup (p.Ile570dup) rs137854041
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949
NM_000548.5(TSC2):c.1712T>C (p.Leu571Pro) rs397515093
NM_000548.5(TSC2):c.1716+10C>A rs45464995
NM_000548.5(TSC2):c.1716+16G>A rs45517189
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1716+28C>A rs371524563
NM_000548.5(TSC2):c.1716+5del rs137854417
NM_000548.5(TSC2):c.1716G>A (p.Gln572=) rs397514917
NM_000548.5(TSC2):c.1717-16C>T rs45517191
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1717-1G>T rs45517192
NM_000548.5(TSC2):c.1717-23T>G rs45517193
NM_000548.5(TSC2):c.1717-27G>A rs45517194
NM_000548.5(TSC2):c.1717-28C>T rs45517195
NM_000548.5(TSC2):c.1717-30G>A rs45500703
NM_000548.5(TSC2):c.1717-55T>C rs7187438
NM_000548.5(TSC2):c.171del (p.Ile58fs) rs397515042
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1737_1814del (p.Ala580_Pro605del) rs137854373
NM_000548.5(TSC2):c.1741dup (p.Ser581fs) rs137854348
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn) rs45517197
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.1754_1755GT[4] (p.Tyr587fs) rs397515116
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro) rs137854229
NM_000548.5(TSC2):c.1771del (p.Val591fs) rs137854418
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) rs45517199
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro) rs45517200
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr) rs397515246
NM_000548.5(TSC2):c.1789_1791dup (p.His597dup) rs397514965
NM_000548.5(TSC2):c.1790A>G (p.His597Arg) rs137854322
NM_000548.5(TSC2):c.1791_1795del (p.His597fs) rs137854165
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1792_1794del (p.Tyr598del) rs397515083
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094
NM_000548.5(TSC2):c.1796A>T (p.Lys599Met) rs45517202
NM_000548.5(TSC2):c.1796del (p.Lys599fs) rs137854125
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs) rs397515132
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser) rs45517203
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu) rs397515296
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1823_1825GCA[3] (p.Ser609dup) rs137854260
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly) rs45469298
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.1837C>T (p.Gln613Ter) rs45480292
NM_000548.5(TSC2):c.1839+1G>A rs45438400
NM_000548.5(TSC2):c.1839+1G>C rs45438400
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+46G>A rs397515180
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1840-1G>A rs397514953
NM_000548.5(TSC2):c.1840-1G>C rs397514953
NM_000548.5(TSC2):c.1840-2A>G rs45517205
NM_000548.5(TSC2):c.1840-2A>T rs45517205
NM_000548.5(TSC2):c.1840-3C>G rs397515154
NM_000548.5(TSC2):c.1840G>T (p.Ala614Ser) rs397515199
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp) rs45454398
NM_000548.5(TSC2):c.1844T>C (p.Phe615Ser) rs45481105
NM_000548.5(TSC2):c.1844_1845del (p.Ala614_Phe615insTer) rs137854248
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu) rs397515045
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro) rs397514927
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1872delinsTT (p.Ser625fs) rs397515017
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.187C>T (p.Gln63Ter) rs397515039
NM_000548.5(TSC2):c.187del (p.Gln63fs) rs397514903
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1889_1893delinsATGCA (p.Gly630_Leu631delinsAspAla) rs397515215
NM_000548.5(TSC2):c.1893dup (p.Pro632fs) rs397515032
NM_000548.5(TSC2):c.1909_1912del (p.Val637fs) rs137854069
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile) rs397514964
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs) rs137854339
NM_000548.5(TSC2):c.1934dup (p.Cys646fs) rs397515019
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.193del (p.Cys65fs) rs397515080
NM_000548.5(TSC2):c.1942dup (p.Tyr648fs) rs137854151
NM_000548.5(TSC2):c.1944del (p.Asp647_Tyr648insTer) rs137854096
NM_000548.5(TSC2):c.1946+1G>C rs397514994
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.1946+60G>C rs45491895
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-1G>A rs397515310
NM_000548.5(TSC2):c.1947-2A>G rs45517207
NM_000548.5(TSC2):c.1947-4_2030del rs1555505940
NM_000548.5(TSC2):c.1947-7T>C rs45450193
NM_000548.5(TSC2):c.1953_1954AG[3] (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1953_1954AG[5] (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1960G>T (p.Gly654Cys) rs397515114
NM_000548.5(TSC2):c.1960_1961del (p.Gly654fs) rs137854349
NM_000548.5(TSC2):c.1965dup (p.Glu656Ter) rs137854082
NM_000548.5(TSC2):c.1967_1969AGA[2] (p.Lys658del) rs137854104
NM_000548.5(TSC2):c.1969A>T (p.Lys657Ter) rs45488199
NM_000548.5(TSC2):c.196G>T (p.Glu66Ter) rs45517094
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.1975_1981del (p.Thr659fs) rs137854124
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg) rs137854168
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) rs137854103
NM_000548.5(TSC2):c.1987del (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1987dup (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter) rs397514951
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs) rs137854309
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2031dup (p.Ala678fs) rs397515050
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2050del (p.Val684fs) rs397515141
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter) rs45517095
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs) rs137854211
NM_000548.5(TSC2):c.2061_2073del (p.Leu688fs) rs137854186
NM_000548.5(TSC2):c.2071_2072CG[3] (p.Val692fs) rs397515197
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2074del (p.Val692fs) rs137854419
NM_000548.5(TSC2):c.2078T>C (p.Leu693Pro) rs45488191
NM_000548.5(TSC2):c.2078_2080TGC[1] (p.Leu694del) rs137854234
NM_000548.5(TSC2):c.2082G>T (p.Leu694=) rs45458592
NM_000548.5(TSC2):c.2082_2083delinsTT (p.Gln695Ter) rs137854362
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) rs45517209
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg) rs45483301
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2087_2088insAA (p.Cys696Ter) rs137854319
NM_000548.5(TSC2):c.2088C>A (p.Cys696Ter) rs137854217
NM_000548.5(TSC2):c.2089_2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) rs45517210
NM_000548.5(TSC2):c.2097+12C>T rs137854029
NM_000548.5(TSC2):c.2097+28G>A rs397514882
NM_000548.5(TSC2):c.2097+35G>A rs45517211
NM_000548.5(TSC2):c.2097+43A>G rs186681035
NM_000548.5(TSC2):c.2098-19A>G rs397515091
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys) rs45496402
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2103_2105dup (p.Asp702dup) rs137854265
NM_000548.5(TSC2):c.2103dup (p.Asp702Ter) rs137854320
NM_000548.5(TSC2):c.2106dup (p.Trp703fs) rs137854183
NM_000548.5(TSC2):c.2107dup (p.Trp703fs) rs397515047
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter) rs45462192
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2114T>A (p.Val705Glu) rs397515068
NM_000548.5(TSC2):c.2127del (p.Leu710fs) rs397515178
NM_000548.5(TSC2):c.2142_2157del (p.Glu715fs) rs137854201
NM_000548.5(TSC2):c.2145_2158dup (p.Lys720fs) rs137854358
NM_000548.5(TSC2):c.2148_2149insGAGTCCC (p.Leu717fs) rs397514883
NM_000548.5(TSC2):c.2149del (p.Leu717fs) rs397514967
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215
NM_000548.5(TSC2):c.2163del (p.Leu722fs) rs137854109
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs) rs137854216
NM_000548.5(TSC2):c.2182del (p.Cys728fs) rs137854032
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2183dup (p.Cys728fs) rs397515280
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro) rs45517217
NM_000548.5(TSC2):c.2199_2203del (p.Ala736fs) rs397515090
NM_000548.5(TSC2):c.21del (p.Asp8fs) rs137854019
NM_000548.5(TSC2):c.2201_2205GCTCT[3] (p.Cys738fs) rs137854247
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro) rs45464093
NM_000548.5(TSC2):c.2220+1G>A rs137854361
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2220+25G>C rs149860839
NM_000548.5(TSC2):c.2220+2T>G rs397515121
NM_000548.5(TSC2):c.2220+32del rs137854354
NM_000548.5(TSC2):c.2220+3A>C rs397515133
NM_000548.5(TSC2):c.2221-1G>C rs45517218
NM_000548.5(TSC2):c.2221-28A>G rs7196184
NM_000548.5(TSC2):c.2221-2A>C rs45502196
NM_000548.5(TSC2):c.2221-2A>G rs45502196
NM_000548.5(TSC2):c.2221-7T>G rs45517219
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2231del (p.Pro744fs) rs397515218
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs) rs137854006
NM_000548.5(TSC2):c.2235_2236del (p.Lys745fs) rs137854110
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs) rs137854126
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly) rs397515049
NM_000548.5(TSC2):c.225+25AG[3] rs137854167
NM_000548.5(TSC2):c.225+2T>A rs397515105
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2257dup (p.Ala753fs) rs397514946
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.226-32A>G rs137854185
NM_000548.5(TSC2):c.226-36_226-35del rs397515043
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe) rs45517223
NM_000548.5(TSC2):c.2277A>G (p.Arg759=) rs45517224
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2294_2295dup (p.Val766fs) rs137854284
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu) rs45499191
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu) rs397514984
NM_000548.5(TSC2):c.2318T>G (p.Leu773Ter) rs397515276
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2338del (p.Leu780fs) rs137854086
NM_000548.5(TSC2):c.2347del (p.Thr783fs) rs137854385
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2356-52_2357del rs1555507428
NM_000548.5(TSC2):c.2356-63A>C rs45517230
NM_000548.5(TSC2):c.2359G>T (p.Glu787Ter) rs45517231
NM_000548.5(TSC2):c.2363T>G (p.Met788Arg) rs45485599
NM_000548.5(TSC2):c.2363_2377delinsC (p.Met788fs) rs137854061
NM_000548.5(TSC2):c.2369_2371del (p.Tyr790del) rs397515224
NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2375T>G (p.Leu792Arg) rs137854241
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) rs45517233
NM_000548.5(TSC2):c.2380dup (p.Gln794fs) rs397514995
NM_000548.5(TSC2):c.2381dup (p.Leu796fs) rs397515282
NM_000548.5(TSC2):c.2392del (p.His798fs) rs137854147
NM_000548.5(TSC2):c.2399del (p.Cys800fs) rs137854377
NM_000548.5(TSC2):c.2399dup (p.Cys800fs) rs137854170
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs) rs397515158
NM_000548.5(TSC2):c.2404dup (p.Ser802fs) rs137854182
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter) rs45517234
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.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2424_2426delinsT (p.Leu808fs) rs397514911
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2430dup (p.Cys811fs) rs137853997
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys) rs45485395
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.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) rs397514933
NM_000548.5(TSC2):c.2461A>T (p.Lys821Ter) rs45517237
NM_000548.5(TSC2):c.2468dup (p.Pro824fs) rs137853992
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs) rs137854206
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2489T>G (p.Leu830Arg) rs137854047
NM_000548.5(TSC2):c.2491_2492insAT (p.Thr831fs) rs137854379
NM_000548.5(TSC2):c.2498_2502del (p.Ile833fs) rs137854286
NM_000548.5(TSC2):c.2498del (p.Ile833fs) rs397514944
NM_000548.5(TSC2):c.2508A>G (p.Thr836=) rs137854242
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2525del (p.Pro842fs) rs137854375
NM_000548.5(TSC2):c.2530del (p.Leu844fs) rs137854372
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2531T>G (p.Leu844Arg) rs397515303
NM_000548.5(TSC2):c.2537T>A (p.Phe846Tyr) rs45509000
NM_000548.5(TSC2):c.2539del (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2539dup (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro) rs45517240
NM_000548.5(TSC2):c.2545+10C>T rs45517241
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2545+2T>C rs397515262
NM_000548.5(TSC2):c.2545+31C>T rs45517243
NM_000548.5(TSC2):c.2545+45T>A rs45517244
NM_000548.5(TSC2):c.2545+6T>G rs45517245
NM_000548.5(TSC2):c.2545+95dup rs397515216
NM_000548.5(TSC2):c.2546-11C>G rs397515157
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-1G>C rs45468292
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2546-2A>T rs45517246
NM_000548.5(TSC2):c.2546-31G>A rs145738496
NM_000548.5(TSC2):c.2546-40_2546-27del rs397515055
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.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2583del (p.Ala862fs) rs137854264
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.258_283del (p.Asp87fs) rs137854271
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) rs45517250
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup) rs137854092
NM_000548.5(TSC2):c.2619G>T (p.Leu873=) rs137854054
NM_000548.5(TSC2):c.2628dup (p.Asn877fs) rs137854097
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.5(TSC2):c.2631C>T (p.Asn877=) rs45517251
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs) rs397514943
NM_000548.5(TSC2):c.2638_2639+2del rs137854081
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.2639+15C>T rs397515299
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2639+1dup rs137854394
NM_000548.5(TSC2):c.2639+42C>T rs201973730
NM_000548.5(TSC2):c.2639+44C>G rs1800715
NM_000548.5(TSC2):c.2639+5G>A rs397515171
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-26G>T rs45483797
NM_000548.5(TSC2):c.2640-2A>T rs137854380
NM_000548.5(TSC2):c.2641T>C (p.Phe881Leu) rs45463498
NM_000548.5(TSC2):c.2643del (p.Phe881fs) rs137854030
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=) rs45489200
NM_000548.5(TSC2):c.2656_2657GT[2] (p.Cys887fs) rs137854232
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter) rs45475594
NM_000548.5(TSC2):c.2661_2707del (p.Ala889fs) rs397515098
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro) rs397515054
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2669_2677del (p.His890_Ile893delinsLeu) rs137854068
NM_000548.5(TSC2):c.2670del (p.His891fs) rs397514900
NM_000548.5(TSC2):c.2677del (p.Val892_Ile893insTer) rs397515000
NM_000548.5(TSC2):c.2677dup (p.Ile893fs) rs137854276
NM_000548.5(TSC2):c.2682C>G (p.Ala894=) rs45517253
NM_000548.5(TSC2):c.2683A>G (p.Met895Val) rs45470695
NM_000548.5(TSC2):c.2687G>A (p.Trp896Ter) rs45517254
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) rs397514913
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.2697G>T (p.Arg899Ser) rs45517256
NM_000548.5(TSC2):c.269_272del (p.Gln90fs) rs397515094
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) rs397515228
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter) rs45517257
NM_000548.5(TSC2):c.2709dup (p.Phe904fs) rs137854291
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) rs45517258
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2713del (p.Arg905fs) rs397515007
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2716A>T (p.Lys906Ter) rs397515243
NM_000548.5(TSC2):c.2717dup (p.Asp907fs) rs137854073
NM_000548.5(TSC2):c.2721delinsAG (p.Asp907fs) rs397515213
NM_000548.5(TSC2):c.2729del (p.Pro910fs) rs137854067
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2733del (p.Phe911fs) rs137854328
NM_000548.5(TSC2):c.2737_2738del (p.Ile912_Thr913insTer) rs397515113
NM_000548.5(TSC2):c.2742+13C>T rs45517260
NM_000548.5(TSC2):c.2742+15G>A rs45517261
NM_000548.5(TSC2):c.2742+1G>A rs45517262
NM_000548.5(TSC2):c.2742+1G>T rs45517262
NM_000548.5(TSC2):c.2742+5G>A rs397515076
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2742G>C (p.Lys914Asn) rs137854877
NM_000548.5(TSC2):c.2743-11C>T rs137854426
NM_000548.5(TSC2):c.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2743-1G>C rs45517263
NM_000548.5(TSC2):c.2743-2A>C rs45445303
NM_000548.5(TSC2):c.2743-2A>G rs45445303
NM_000548.5(TSC2):c.2743-3C>A rs45517264
NM_000548.5(TSC2):c.2743-40A>G rs45517265
NM_000548.5(TSC2):c.2743-4_2743dup rs137854093
NM_000548.5(TSC2):c.2743-66A>G rs45517266
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2746C>T (p.Leu916=) rs137854274
NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg) rs137854405
NM_000548.5(TSC2):c.274del (p.Glu92fs) rs137854422
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.2753C>G (p.Ser918Cys) rs397515165
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2765del (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2765dup (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2767_2769delinsCC (p.Ser923fs) rs397515179
NM_000548.5(TSC2):c.2768dup (p.Phe924_Asp925insTer) rs137854402
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs) rs137854202
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2784del (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2784dup (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter) rs45517268
NM_000548.5(TSC2):c.2785del (p.Glu929fs) rs137854098
NM_000548.5(TSC2):c.2795G>A (p.Ser932Asn) rs397515138
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys) rs45517269
NM_000548.5(TSC2):c.279dup (p.Pro94fs) rs137854409
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr) rs1051616
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs) rs137853975
NM_000548.5(TSC2):c.281del (p.Pro94fs) rs137854179
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2837+11dup rs137854204
NM_000548.5(TSC2):c.2837+16G>A rs397515095
NM_000548.5(TSC2):c.2837+1G>T rs45517271
NM_000548.5(TSC2):c.2837+80C>T rs137854131
NM_000548.5(TSC2):c.2838-4A>C rs45517272
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser) rs45517273
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg) rs397515191
NM_000548.5(TSC2):c.2862A>G (p.Lys954=) rs45517274
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe) rs397514898
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2966+92_2966+94dup rs397515128
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs) rs397515185
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) rs45438592
NM_000548.5(TSC2):c.2975_2978del (p.Gln992fs) rs137854231
NM_000548.5(TSC2):c.2977_3025del (p.Thr993fs) rs137854287
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.297_298CG[3] (p.Val101fs) rs137854244
NM_000548.5(TSC2):c.297del (p.His99fs) rs397515239
NM_000548.5(TSC2):c.2983_2990dup (p.Ala998fs) rs137854324
NM_000548.5(TSC2):c.2988del (p.Ser997fs) rs397515269
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3017_3062del (p.Asn1006fs) rs397515107
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met) rs397514985
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser) rs45517278
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter) rs45514100
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.3037del (p.Asp1013fs) rs137854301
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs) rs397515211
NM_000548.5(TSC2):c.3076dup (p.Cys1026fs) rs137854334
NM_000548.5(TSC2):c.307_315dup (p.Ala103_Leu105dup) rs137854004
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) rs45438192
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn) rs45517280
NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly) rs397515255
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3094_3095insTTCCATG (p.Arg1032fs) rs397515231
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His) rs137854404
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>G (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer) rs137854157
NM_000548.5(TSC2):c.309T>G (p.Ala103=) rs45517101
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs) rs137853989
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.3128del (p.Lys1043fs) rs137854070
NM_000548.5(TSC2):c.3131+11_3131+28del rs137854115
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>C rs397515036
NM_000548.5(TSC2):c.3131+34C>T rs45487103
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys) rs397515302
NM_000548.5(TSC2):c.3131G>T (p.Arg1044Met) rs397515302
NM_000548.5(TSC2):c.3132-10T>C rs397514894
NM_000548.5(TSC2):c.3132-16G>A rs199572528
NM_000548.5(TSC2):c.3132-18A>T rs137854120
NM_000548.5(TSC2):c.3132-1G>A rs45443096
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3132-2A>C rs45517282
NM_000548.5(TSC2):c.3132-30A>G rs45517283
NM_000548.5(TSC2):c.3138T>C (p.Pro1046=) rs137854158
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3168del (p.Thr1057fs) rs397515127
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg) rs45517285
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3198dup (p.Val1067fs) rs137854177
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile) rs397515284
NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) rs45498892
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3220_3221delinsC (p.Gly1074fs) rs137854384
NM_000548.5(TSC2):c.3221del (p.Gly1074fs) rs397514962
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile) rs397515024
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile) rs137854279
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3239del (p.Leu1080fs) rs397515061
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) rs45517286
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) rs45517287
NM_000548.5(TSC2):c.3259_3261delinsAA (p.Glu1087fs) rs397515044
NM_000548.5(TSC2):c.3259del (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp) rs45438093
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) rs45517288
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs) rs137854213
NM_000548.5(TSC2):c.3275del (p.Pro1092fs) rs397515096
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284+1G>C rs45517289
NM_000548.5(TSC2):c.3284+1del rs137853990
NM_000548.5(TSC2):c.3284+45G>A rs140027616
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3285-16G>A rs397514886
NM_000548.5(TSC2):c.3285-19C>T rs45517291
NM_000548.5(TSC2):c.3285-31G>A rs397515248
NM_000548.5(TSC2):c.3285-63A>G rs397515026
NM_000548.5(TSC2):c.3294del (p.Val1100fs) rs397515048
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.3307_3308insC (p.Arg1103fs) rs397515022
NM_000548.5(TSC2):c.330delinsAT (p.Gly111fs) rs137854108
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter) rs397514978
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs) rs137854018
NM_000548.5(TSC2):c.3312_3313del (p.Gln1104fs) rs397515183
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) rs45478393
NM_000548.5(TSC2):c.3327_3337del (p.Ala1110fs) rs397515013
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3348_3349insAGCC (p.Gly1117fs) rs137854042
NM_000548.5(TSC2):c.334C>T (p.Gln112Ter) rs397515308
NM_000548.5(TSC2):c.3350_3360del (p.Gly1117fs) rs137854003
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter) rs45496291
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter) rs45517292
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu) rs397514895
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1_336+2dup rs397515275
NM_000548.5(TSC2):c.336+2T>G rs45505995
NM_000548.5(TSC2):c.336+30G>A rs45503094
NM_000548.5(TSC2):c.336+32C>T rs45517103
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.336+61C>T rs397514989
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.337-1G>T rs45517105
NM_000548.5(TSC2):c.337-2A>G rs397515316
NM_000548.5(TSC2):c.337-2A>T rs397515316
NM_000548.5(TSC2):c.3373del (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.5(TSC2):c.3383del (p.Val1128fs) rs137853996
NM_000548.5(TSC2):c.3384_3397+2del rs137854190
NM_000548.5(TSC2):c.3390del (p.Met1131fs) rs137854161
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3397+2T>G rs45499293
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3397+5G>T rs45501492
NM_000548.5(TSC2):c.3398-10T>C rs137854369
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.339del (p.Glu114fs) rs137854063
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) rs397515021
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter) rs397515021
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs) rs397515244
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.3425dup (p.Asp1143fs) rs137854313
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.3430G>T (p.Val1144Leu) rs45517294
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.5(TSC2):c.343del (p.Arg115fs) rs397514918
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3451G>A (p.Gly1151Ser) rs137854022
NM_000548.5(TSC2):c.3452_3455dup (p.Ser1152fs) rs137854078
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.3482C>T (p.Ala1161Val) rs397514901
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3497del (p.Pro1166fs) rs397515052
NM_000548.5(TSC2):c.3498dup (p.Glu1167Ter) rs137854340
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.5(TSC2):c.3509C>A (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3520del (p.Arg1174fs) rs137854326
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3535G>T (p.Glu1179Ter) rs45483391
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3559del (p.Val1187fs) rs137854163
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) rs45517298
NM_000548.5(TSC2):c.3574del (p.Gln1192fs) rs137854014
NM_000548.5(TSC2):c.3578del (p.Gly1193fs) rs137854262
NM_000548.5(TSC2):c.357del (p.Arg120fs) rs137854258
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter) rs397515168
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly) rs397515088
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro) rs397515225
NM_000548.5(TSC2):c.3605C>A (p.Pro1202His) rs397515060
NM_000548.5(TSC2):c.3605C>G (p.Pro1202Arg) rs397515060
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro) rs397515265
NM_000548.5(TSC2):c.3608C>A (p.Thr1203Lys) rs397515030
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+25G>C rs45517300
NM_000548.5(TSC2):c.3610+42dup rs397515119
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3610+9C>T rs45467194
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3611-28C>A rs45517303
NM_000548.5(TSC2):c.3611-2A>T rs397515169
NM_000548.5(TSC2):c.3611-9C>T rs45517304
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3620G>T (p.Ser1207Ile) rs397515313
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg) rs45482795
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) rs397514979
NM_000548.5(TSC2):c.3637del (p.Glu1213fs) rs397515010
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs) rs137854224
NM_000548.5(TSC2):c.3653_3660del (p.Pro1218fs) rs137854389
NM_000548.5(TSC2):c.3653_3670del (p.Pro1218_Asn1224delinsHis) rs397514904
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter) rs45517305
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs) rs137854393
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3686_3701del (p.Gln1229fs) rs137854129
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3695del (p.Ser1232fs) rs137854316
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3699dup (p.Ala1234fs) rs397515193
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe) rs137854303
NM_000548.5(TSC2):c.3705del (p.Met1236fs) rs137854325
NM_000548.5(TSC2):c.3712del (p.Ala1238fs) rs397515161
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys) rs137854353
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3755C>G (p.Ser1252Ter) rs45517309
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs) rs137854194
NM_000548.5(TSC2):c.3769del (p.Ala1257fs) rs137854180
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp) rs45517310
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3814+1G>A rs397514902
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.3814+56C>T rs45517312
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3815-27G>A rs137854008
NM_000548.5(TSC2):c.3815-28C>G rs45517313
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly) rs45446700
NM_000548.5(TSC2):c.385del (p.Asp129fs) rs137854059
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+37C>T rs45517315
NM_000548.5(TSC2):c.3883+5C>T rs45448994
NM_000548.5(TSC2):c.3883+76C>A rs137854188
NM_000548.5(TSC2):c.3883+78G>A rs1800705
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-1G>A rs137854079
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.3884-2A>T rs137854053
NM_000548.5(TSC2):c.3884-51C>A rs45505099
NM_000548.5(TSC2):c.3884-51C>G rs45505099
NM_000548.5(TSC2):c.3884-55A>T rs45517318
NM_000548.5(TSC2):c.3884-56C>G rs1800724
NM_000548.5(TSC2):c.3884-8C>T rs397515219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.388del (p.Tyr130fs) rs397514975
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser) rs45452994
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.3924dup (p.Pro1309fs) rs137854142
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs) rs397515212
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter) rs45517321
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala) rs397514916
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser) rs397514916
NM_000548.5(TSC2):c.3943_3944del (p.Pro1315fs) rs137854011
NM_000548.5(TSC2):c.3952_3961del (p.Glu1318fs) rs397515260
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391
NM_000548.5(TSC2):c.395_396del (p.Pro131_Ser132insTer) rs397515263
NM_000548.5(TSC2):c.3961G>T (p.Glu1321Ter) rs397514910
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3984del (p.Arg1328fs) rs137854255
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.3991del (p.Asp1331fs) rs397515058
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs) rs137854403
NM_000548.5(TSC2):c.3999del (p.Ala1332_Tyr1333insTer) rs397515232
NM_000548.5(TSC2):c.3G>A (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+2T>A rs137854254
NM_000548.5(TSC2):c.4006-21C>T rs397515012
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.4006-30_4006-29del rs397515235
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter) rs397515003
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter) rs45517326
NM_000548.5(TSC2):c.403dup (p.Asp135fs) rs137854166
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491
NM_000548.5(TSC2):c.404_407dup (p.His137fs) rs137854381
NM_000548.5(TSC2):c.4061del (p.Gly1354fs) rs397515129
NM_000548.5(TSC2):c.4067del (p.Gly1356fs) rs137854330
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu) rs397515130
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) rs397514997
NM_000548.5(TSC2):c.4083_4087del (p.Val1362fs) rs137853978
NM_000548.5(TSC2):c.4085T>A (p.Val1362Asp) rs397514947
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs) rs397515126
NM_000548.5(TSC2):c.4090dup (p.Ser1364fs) rs397515201
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.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.410A>G (p.His137Arg) rs45517107
NM_000548.5(TSC2):c.4113_4114TG[1] (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4121_4122TC[1] (p.Ser1375fs) rs137854289
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.4136C>A (p.Ser1379Ter) rs137854065
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) rs397515009
NM_000548.5(TSC2):c.415del (p.Arg139fs) rs137854010
NM_000548.5(TSC2):c.4162_4163TC[1] (p.Pro1389fs) rs137854043
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter) rs397515033
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4174del (p.Gln1392fs) rs137854051
NM_000548.5(TSC2):c.4176_4177del (p.Gln1392fs) rs137854270
NM_000548.5(TSC2):c.4178_4179CT[1] (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs) rs397514935
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4207dup (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu) rs45517332
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4241_4275del (p.Val1414fs) rs137854296
NM_000548.5(TSC2):c.4244dup (p.Ala1416fs) rs137854243
NM_000548.5(TSC2):c.4249del (p.Arg1417fs) rs137854055
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255del (p.Gln1419fs) rs137854137
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4260_4261del (p.Gly1421fs) rs397515271
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs) rs397515069
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4273_4337del (p.Gly1425fs) rs1555514235
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter) rs45449094
NM_000548.5(TSC2):c.4279del (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr) rs397515250
NM_000548.5(TSC2):c.4283del (p.Ala1428fs) rs397515233
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4289G>A (p.Trp1430Ter) rs45507198
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter) rs45517334
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter) rs45517335
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.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=) rs45517336
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs) rs137854415
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392
NM_000548.5(TSC2):c.4324del (p.Glu1442fs) rs397515188
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4352dup (p.Ser1452fs) rs397515175
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) rs45517339
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly) rs137854366
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs) rs137854046
NM_000548.5(TSC2):c.4374_4375insT (p.Arg1459fs) rs137854038
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4375del (p.Arg1459fs) rs397514959
NM_000548.5(TSC2):c.437T>G (p.Leu146Arg) rs397514996
NM_000548.5(TSC2):c.4383C>G (p.Tyr1461Ter) rs397514977
NM_000548.5(TSC2):c.438_439CA[1] (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter) rs45517341
NM_000548.5(TSC2):c.4399dup (p.Ala1467fs) rs397515065
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs) rs397515004
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter) rs45517342
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs) rs397515041
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln) rs397515136
NM_000548.5(TSC2):c.4418_4419AG[2] (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4424_4427dup (p.Glu1476fs) rs137854035
NM_000548.5(TSC2):c.4424_4428del (p.Val1475fs) rs137854293
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val) rs397515242
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs) rs397514963
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter) rs45446594
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs) rs137854312
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4450_4451del (p.Ala1484fs) rs137854387
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs) rs137854350
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) rs45517344
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) rs45497997
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+1del rs397514971
NM_000548.5(TSC2):c.4493+25G>T rs397514890
NM_000548.5(TSC2):c.4493+87del rs397514932
NM_000548.5(TSC2):c.4493G>A (p.Ser1498Asn) rs137854879
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.4493_4494insC (p.Val1500fs) rs397515278
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4494-1G>C rs45517346
NM_000548.5(TSC2):c.4494-2A>C rs397514990
NM_000548.5(TSC2):c.4494-3_4494-2del rs397514950
NM_000548.5(TSC2):c.4496dup (p.Val1500fs) rs397515194
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly) rs45517347
NM_000548.5(TSC2):c.4504del (p.Leu1502fs) rs137854160
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.4509G>T (p.Gln1503His) rs45517349
NM_000548.5(TSC2):c.4511T>A (p.Leu1504His) rs45501793
NM_000548.5(TSC2):c.4515C>A (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4516del (p.His1506fs) rs137854017
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter) rs137854199
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.4568del (p.Glu1523fs) rs137854411
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4569+44C>T rs142227748
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4569+47G>A rs45517351
NM_000548.5(TSC2):c.4569+50T>A rs45482792
NM_000548.5(TSC2):c.4569+7G>C rs45497598
NM_000548.5(TSC2):c.4569+80G>A rs397515072
NM_000548.5(TSC2):c.4570-12T>A rs137854256
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-66G>A rs45496499
NM_000548.5(TSC2):c.4570-80A>G rs397515074
NM_000548.5(TSC2):c.4570_4598dup (p.Leu1534fs) rs137854150
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4576_4582del (p.Phe1527fs) rs137854407
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4591del (p.Val1531fs) rs137854282
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.45del (p.Phe15fs) rs397515020
NM_000548.5(TSC2):c.4601T>A (p.Leu1534His) rs137854374
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr) rs45517353
NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del) rs137854401
NM_000548.5(TSC2):c.4604A>C (p.Asp1535Ala) rs397515160
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val) rs397515160
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter) rs45495796
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4621del (p.Asp1541fs) rs397515005
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs) rs137854308
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4640T>G (p.Val1547Gly) rs397514988
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) rs137854083
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro) rs397515070
NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn) rs45488595
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4646del (p.Tyr1549fs) rs137854424
NM_000548.5(TSC2):c.4647T>A (p.Tyr1549Ter) rs397515028
NM_000548.5(TSC2):c.4652_4653GA[3] (p.Gly1553fs) rs137854111
NM_000548.5(TSC2):c.4654G>T (p.Glu1552Ter) rs397514942
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.465C>G (p.Tyr155Ter) rs45444196
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro) rs45473296
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+1G>A rs45514095
NM_000548.5(TSC2):c.4662+41G>C rs45482694
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=) rs137854880
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4663-14C>T rs397515174
NM_000548.5(TSC2):c.4663-17C>G rs137854192
NM_000548.5(TSC2):c.4663-1G>A rs45517358
NM_000548.5(TSC2):c.4663-1G>C rs45517358
NM_000548.5(TSC2):c.4663-38_4663-18dup rs137854102
NM_000548.5(TSC2):c.4663-3C>G rs397514930
NM_000548.5(TSC2):c.4663-43G>A rs45517359
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs) rs397515283
NM_000548.5(TSC2):c.4667del (p.Asn1556fs) rs137854416
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4672_4684dup (p.Leu1562fs) rs397515051
NM_000548.5(TSC2):c.4677C>G (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=) rs45517363
NM_000548.5(TSC2):c.4695del (p.Glu1565fs) rs137854171
NM_000548.5(TSC2):c.4697dup (p.His1566fs) rs137853974
NM_000548.5(TSC2):c.469G>T (p.Glu157Ter) rs45517108
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp) rs45517364
NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val) rs45517364
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs) rs137854240
NM_000548.5(TSC2):c.4705_4706dup (p.Arg1570fs) rs397514992
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter) rs397515277
NM_000548.5(TSC2):c.4708A>T (p.Arg1570Trp) rs45517365
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr) rs397514980
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn) rs397514905
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) rs45478894
NM_000548.5(TSC2):c.4713C>G (p.Tyr1571Ter) rs45517366
NM_000548.5(TSC2):c.4726_4782del (p.Thr1576_Leu1594del) rs137854039
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4727_4753del (p.Thr1576_Leu1584del) rs137854143
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) rs45517367
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.4736G>T (p.Gly1579Val) rs397515222
NM_000548.5(TSC2):c.4743del (p.Ile1582fs) rs137854148
NM_000548.5(TSC2):c.4744dup (p.Ile1582fs) rs137854356
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) rs137854203
NM_000548.5(TSC2):c.4752del (p.Lys1585fs) rs397514937
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4774del (p.Val1592fs) rs137854009
NM_000548.5(TSC2):c.4777dup (p.Tyr1593fs) rs397514889
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.4780C>A (p.Leu1594Met) rs45511204
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val) rs397515014
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro) rs45517370
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.481+21G>C rs397515040
NM_000548.5(TSC2):c.481+5G>A rs137854135
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter) rs397514888
NM_000548.5(TSC2):c.482-1G>C rs137854306
NM_000548.5(TSC2):c.482-27C>T rs200473689
NM_000548.5(TSC2):c.482-2A>C rs45517110
NM_000548.5(TSC2):c.482-2A>G rs45517110
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.482-59G>A rs200833855
NM_000548.5(TSC2):c.482-5C>T rs397515071
NM_000548.5(TSC2):c.482-68C>G rs2516734
NM_000548.5(TSC2):c.482-7_482-6delinsAA rs137854412
NM_000548.5(TSC2):c.4821del (p.Tyr1608fs) rs137854139
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4825_4831del (p.Cys1609fs) rs137854134
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly) rs397514966
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.482C>T (p.Ala161Val) rs45481496
NM_000548.5(TSC2):c.482_483del (p.Ala161fs) rs137854235
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter) rs45517372
NM_000548.5(TSC2):c.4830del (p.Trp1610fs) rs137854230
NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4849+12C>T rs45517373
NM_000548.5(TSC2):c.4849+18C>T rs45517374
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4849+2T>A rs397515281
NM_000548.5(TSC2):c.4849+34C>T rs45493793
NM_000548.5(TSC2):c.4849+48C>T rs376861903
NM_000548.5(TSC2):c.4849+76G>A rs144647393
NM_000548.5(TSC2):c.4849+97del rs142421783
NM_000548.5(TSC2):c.4850-109T>C rs13335638
NM_000548.5(TSC2):c.4850-14C>G rs397515189
NM_000548.5(TSC2):c.4850-19C>G rs45517376
NM_000548.5(TSC2):c.4850-1G>A rs45517377
NM_000548.5(TSC2):c.4850-23C>T rs397515086
NM_000548.5(TSC2):c.4850-2A>C rs397515315
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4850-3C>G rs397514982
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del) rs137854227
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4854del (p.Phe1619fs) rs137854357
NM_000548.5(TSC2):c.4855_4857del (p.Phe1619del) rs397515084
NM_000548.5(TSC2):c.4856T>C (p.Phe1619Ser) rs45514993
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr) rs45446901
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4870_4871del (p.Leu1624fs) rs137854095
NM_000548.5(TSC2):c.4870del (p.Thr1623_Leu1624insTer) rs137854187
NM_000548.5(TSC2):c.4871T>C (p.Leu1624Pro) rs137854221
NM_000548.5(TSC2):c.4873del (p.Met1625fs) rs137854257
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4889_4989+135del rs137854272
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4905C>A (p.Cys1635Ter) 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.4909_4910del (p.Lys1637fs) rs137854049
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4909_4920del (p.Lys1637_His1640del) rs137854267
NM_000548.5(TSC2):c.4910_4919del (p.Lys1637fs) rs397515117
NM_000548.5(TSC2):c.4910dup (p.Lys1638fs) rs137854233
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4913dup (p.Arg1639fs) rs397515196
NM_000548.5(TSC2):c.4914G>C (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4915_4918dup (p.His1640fs) rs397515184
NM_000548.5(TSC2):c.4916G>T (p.Arg1639Leu) rs137854153
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) rs137854343
NM_000548.5(TSC2):c.4925del (p.Gly1642fs) rs137854156
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser) rs45517380
NM_000548.5(TSC2):c.4928A>T (p.Asn1643Ile) rs45517380
NM_000548.5(TSC2):c.4929C>G (p.Asn1643Lys) rs45517381
NM_000548.5(TSC2):c.4930G>C (p.Asp1644His) rs137853999
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935dup (p.Val1646fs) rs137854141
NM_000548.5(TSC2):c.4937T>G (p.Val1646Gly) rs397514892
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4948T>A (p.Tyr1650Asn) rs137854212
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys) rs45501091
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe) rs45517383
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4971del (p.Phe1657fs) rs137854181
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=) rs45511393
NM_000548.5(TSC2):c.4975C>T (p.Leu1659Phe) rs45517385
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4989+1G>C rs45517386
NM_000548.5(TSC2):c.4989+1G>T rs45517386
NM_000548.5(TSC2):c.4989+1_4989+2insA rs1555438736
NM_000548.5(TSC2):c.4989+1del rs137854005
NM_000548.5(TSC2):c.4989+1dup rs137854005
NM_000548.5(TSC2):c.4989+2dup rs397515111
NM_000548.5(TSC2):c.4990-6G>A rs137853987
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4del (p.Ala2fs) rs137854295
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.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5018T>A (p.Val1673Asp) rs397515067
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro) rs45500595
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5024del (p.Pro1675fs) rs397514915
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5025del (p.Leu1676fs) rs137854382
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5032dup (p.Tyr1678fs) rs137854016
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5034del (p.Asp1677_Tyr1678insTer) rs137854198
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro) rs45517387
NM_000548.5(TSC2):c.5053del (p.Leu1685fs) rs137854060
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5057A>C (p.Gln1686Pro) rs397514983
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu) rs137854315
NM_000548.5(TSC2):c.5068+16dup rs397514896
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5068+2T>G rs397515152
NM_000548.5(TSC2):c.5068+40G>A rs185211341
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His) rs137854882
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr) rs137854882
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5069-1G>A rs45517389
NM_000548.5(TSC2):c.5069-1G>C rs45517389
NM_000548.5(TSC2):c.5069-1G>T rs45517389
NM_000548.5(TSC2):c.5069-21G>A rs45517390
NM_000548.5(TSC2):c.5069-22C>T rs137854338
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.5069-47_5069-13dup rs397515006
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5078_5081del (p.Gly1693fs) rs137854280
NM_000548.5(TSC2):c.5084_5094del (p.Val1695fs) rs137853985
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314
NM_000548.5(TSC2):c.509_510insAT (p.Gly171fs) rs397515229
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5108T>G (p.Val1703Gly) rs45498401
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs) rs397515227
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5116dup (p.Arg1706fs) rs137853981
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=) rs397515079
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) rs45517393
NM_000548.5(TSC2):c.5127del (p.Phe1710fs) rs397515164
NM_000548.5(TSC2):c.5127dup (p.Phe1710fs) rs397515164
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5135C>A (p.Ala1712Asp) rs45517394
NM_000548.5(TSC2):c.5136_5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val) rs397514974
NM_000548.5(TSC2):c.5144_5155del (p.Met1715_Ala1719delinsThr) rs137854321
NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro) rs45517397
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=) rs45482604
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5152_5160+1del rs137854164
NM_000548.5(TSC2):c.5154_5157dup (p.Asn1720fs) rs397515202
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500
NM_000548.5(TSC2):c.5159del (p.Asn1720fs) rs137854294
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>C rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+23G>A rs368565375
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+2dup rs397514969
NM_000548.5(TSC2):c.5160+37C>T rs45517400
NM_000548.5(TSC2):c.5160+3G>C rs45517401
NM_000548.5(TSC2):c.5160+43C>T rs45517402
NM_000548.5(TSC2):c.5160+4A>G rs45517403
NM_000548.5(TSC2):c.5160+5G>A rs45515392
NM_000548.5(TSC2):c.5160+5G>T rs45515392
NM_000548.5(TSC2):c.5160+6dup rs1555440266
NM_000548.5(TSC2):c.5160+7G>C rs45506600
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys) rs137854883
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-10_5161-7del rs137854033
NM_000548.5(TSC2):c.5161-13C>G rs45517405
NM_000548.5(TSC2):c.5161-15T>C rs397515279
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.5161-1G>C rs45517404
NM_000548.5(TSC2):c.5161-1G>T rs45517404
NM_000548.5(TSC2):c.5161-26_5161-23del rs137854062
NM_000548.5(TSC2):c.5161-27_5161-25del rs137854351
NM_000548.5(TSC2):c.5161-28_5161-25del rs1799758
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5161-9C>A rs45515893
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu) rs45517407
NM_000548.5(TSC2):c.5161del (p.Met1721fs) rs137854251
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro) rs397515270
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5168_5169CA[1] (p.Gln1724fs) rs137854085
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5173del (p.Val1725fs) rs137854077
NM_000548.5(TSC2):c.5176dup (p.His1726fs) rs397515155
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=) rs397514955
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.5(TSC2):c.5192del (p.Asn1731fs) rs397514973
NM_000548.5(TSC2):c.5195_5196insTGCA (p.Thr1733fs) rs137854400
NM_000548.5(TSC2):c.5197_5212del (p.Thr1733fs) rs137854091
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs) rs137854414
NM_000548.5(TSC2):c.5202T>A (p.Asp1734Glu) rs1748
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs) rs397515053
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter) rs45517410
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs) rs137854408
NM_000548.5(TSC2):c.5214dup (p.Lys1739fs) rs397515139
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.5220_5225dup (p.Ile1741_Ala1742dup) rs137854107
NM_000548.5(TSC2):c.5224_5241del (p.Ala1742_Ile1747del) rs397515245
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
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.5228G>C (p.Arg1743Pro) rs45507199
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) rs45507199
NM_000548.5(TSC2):c.5230_5236del (p.Leu1744fs) rs397515001
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) rs45517413
NM_000548.5(TSC2):c.5234_5237del (p.Arg1745fs) rs137854396
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5247del (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5247dup (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe) rs45459299
NM_000548.5(TSC2):c.5249T>C (p.Leu1750Pro) rs397515217
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5259+38C>G rs45517415
NM_000548.5(TSC2):c.525del (p.Glu175fs) rs137854277
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5260-42C>T rs45517417
NM_000548.5(TSC2):c.5260-49C>T rs13332221
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5269_5270dup (p.Ala1758fs) rs397514925
NM_000548.5(TSC2):c.5276C>A (p.Ala1759Asp) rs45477298
NM_000548.5(TSC2):c.5285del (p.Asn1762fs) rs137854169
NM_000548.5(TSC2):c.529_532del (p.Leu177fs) rs137854207
NM_000548.5(TSC2):c.529del (p.Leu177fs) rs137853991
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro) rs45517418
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622
NM_000548.5(TSC2):c.5340_5371del (p.Pro1784fs) rs137854420
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe) rs397515221
NM_000548.5(TSC2):c.5365G>C (p.Glu1789Gln) rs45517420
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser) rs45517421
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His) rs45517422
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup) rs137854335
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5384G>T (p.Arg1795Leu) rs137854288
NM_000548.5(TSC2):c.5386C>A (p.Leu1796Ile) rs45455398
NM_000548.5(TSC2):c.5388dup (p.Ile1797fs) rs137854130
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5408dup (p.Thr1804fs) rs137854228
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252
NM_000548.5(TSC2):c.5414dup (p.Phe1806fs) rs397515143
NM_000548.5(TSC2):c.5418_5419TG[1] (p.Val1807fs) rs137854027
NM_000548.5(TSC2):c.5418_5419TG[2] (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu) rs45486402
NM_000548.5(TSC2):c.548T>A (p.Leu183Ter) rs45470502
NM_000548.5(TSC2):c.560A>T (p.Asn187Ile) rs45505405
NM_000548.5(TSC2):c.565_575del (p.Cys189fs) rs397515120
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.570C>A (p.Tyr190Ter) rs397515099
NM_000548.5(TSC2):c.573C>T (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.585C>A (p.Ile195=) rs397515309
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113
NM_000548.5(TSC2):c.589dup (p.Arg197fs) rs137854172
NM_000548.5(TSC2):c.591del (p.Met198fs) rs137854300
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.599+1G>A rs45460895
NM_000548.5(TSC2):c.599+2T>G rs45484992
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.599+4A>G rs397515140
NM_000548.5(TSC2):c.599+5G>A rs45463996
NM_000548.5(TSC2):c.599+5G>C rs45463996
NM_000548.5(TSC2):c.600-13G>C rs45517116
NM_000548.5(TSC2):c.600-15C>T rs369708731
NM_000548.5(TSC2):c.600-1G>A rs45517117
NM_000548.5(TSC2):c.600-2A>G rs45468592
NM_000548.5(TSC2):c.600-36C>T rs397515057
NM_000548.5(TSC2):c.600-84C>T rs35364892
NM_000548.5(TSC2):c.603G>C (p.Met201Ile) rs45506197
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter) rs45498496
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454
NM_000548.5(TSC2):c.633del (p.Ser212fs) rs137854205
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+117C>G rs45460197
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.649-26G>T rs201910214
NM_000548.5(TSC2):c.655del (p.Leu219fs) rs397515286
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000548.5(TSC2):c.657del (p.Gln220fs) rs397515181
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro) rs45517120
NM_000548.5(TSC2):c.665_671del (p.Leu222fs) rs397514921
NM_000548.5(TSC2):c.667G>T (p.Asp223Tyr) rs45517121
NM_000548.5(TSC2):c.672del (p.Val225fs) rs137854174
NM_000548.5(TSC2):c.680G>A (p.Cys227Tyr) rs45517122
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.684C>A (p.Tyr228Ter) rs397515034
NM_000548.5(TSC2):c.684del (p.Cys227_Tyr228insTer) rs397515124
NM_000548.5(TSC2):c.700G>T (p.Glu234Ter) rs397515018
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957
NM_000548.5(TSC2):c.707dup (p.Leu238fs) rs137854056
NM_000548.5(TSC2):c.709_710dup (p.Leu238fs) rs397515166
NM_000548.5(TSC2):c.710del (p.Pro237fs) rs397515166
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123
NM_000548.5(TSC2):c.720_722del (p.Val241del) rs397514893
NM_000548.5(TSC2):c.724dup (p.Thr242fs) rs397515256
NM_000548.5(TSC2):c.727_728CT[1] (p.Cys244fs) rs137854236
NM_000548.5(TSC2):c.727del (p.Leu243fs) rs397514956
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.731G>A (p.Cys244Tyr) rs45517124
NM_000548.5(TSC2):c.731_732del (p.Cys244fs) rs137854191
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter) rs45517126
NM_000548.5(TSC2):c.767dup (p.Cys256fs) rs137854025
NM_000548.5(TSC2):c.768C>A (p.Cys256Ter) rs45517127
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.774+1G>C rs45517128
NM_000548.5(TSC2):c.774+1G>T rs45517128
NM_000548.5(TSC2):c.774+24G>T rs397515312
NM_000548.5(TSC2):c.774+28G>C rs137854195
NM_000548.5(TSC2):c.774+2T>A rs45517129
NM_000548.5(TSC2):c.774G>C (p.Lys258Asn) rs137854875
NM_000548.5(TSC2):c.775-17C>A rs137854299
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.775-3C>G rs397514909
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.782G>C (p.Arg261Pro) rs45502703
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.791_808del (p.Leu264_Gly269del) rs397515102
NM_000548.5(TSC2):c.821_823ACA[1] (p.Asn275del) rs397514926
NM_000548.5(TSC2):c.825C>A (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.825C>G (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.832dup (p.His278fs) rs137854020
NM_000548.5(TSC2):c.833A>C (p.His278Pro) rs397515266
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.848+39G>T rs45453000
NM_000548.5(TSC2):c.848+3del rs137854057
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-17C>T rs45517133
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.849-24C>T rs373618207
NM_000548.5(TSC2):c.849-2A>G rs45517134
NM_000548.5(TSC2):c.849-3T>G rs45489591
NM_000548.5(TSC2):c.849-53G>A rs45517135
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.859G>T (p.Glu287Ter) rs397515300
NM_000548.5(TSC2):c.871C>T (p.Leu291=) rs45517137
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000548.5(TSC2):c.875T>C (p.Leu292Pro) rs45517138
NM_000548.5(TSC2):c.877_878AG[1] (p.Gly294fs) rs137854364
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139
NM_000548.5(TSC2):c.881G>A (p.Gly294Glu) rs45487497
NM_000548.5(TSC2):c.889_890delinsA (p.Phe297fs) rs137853976
NM_000548.5(TSC2):c.894dup (p.Val299fs) rs137854024
NM_000548.5(TSC2):c.896T>G (p.Val299Gly) rs397514986
NM_000548.5(TSC2):c.900_914dup (p.Met301_Gly305dup) rs137854259
NM_000548.5(TSC2):c.905_906CT[4] (p.Trp304fs) rs397515253
NM_000548.5(TSC2):c.909_928del (p.Trp304fs) rs137854012
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.910_911del (p.Trp304fs) rs397515106
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.912G>A (p.Trp304Ter) rs397514884
NM_000548.5(TSC2):c.925del (p.Leu309fs) rs137854138
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.926del (p.Leu309fs) rs397515190
NM_000548.5(TSC2):c.928dup (p.Tyr310fs) rs397515031
NM_000548.5(TSC2):c.940_941insCT (p.Asn314fs) rs137854386
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.949_950insTA (p.Thr317fs) rs397515153
NM_000548.5(TSC2):c.955_956GT[1] (p.Leu320fs) rs137854347
NM_000548.5(TSC2):c.956dup (p.Leu320fs) rs137854263
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe) rs1131825
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.972C>G (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.975+13C>T rs200564575
NM_000548.5(TSC2):c.975+1G>A rs137854200
NM_000548.5(TSC2):c.975+1G>T rs137854200
NM_000548.5(TSC2):c.975+1del rs137854388
NM_000548.5(TSC2):c.975+5G>C rs45458600
NM_000548.5(TSC2):c.975+5G>T rs45458600
NM_000548.5(TSC2):c.975+8G>A rs137853984
NM_000548.5(TSC2):c.976-14G>A rs397515186
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-1G>A rs45451199
NM_000548.5(TSC2):c.976-1G>T rs45451199
NM_000548.5(TSC2):c.976-3C>G rs45517151
NM_000548.5(TSC2):c.976-40G>A rs137854031
NM_000548.5(TSC2):c.976-63G>A rs12927333
NM_000548.5(TSC2):c.978dup (p.Met327fs) rs397514960
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.982G>C (p.Ala328Pro) rs45517152
NM_000548.5(TSC2):c.993C>A (p.Asn331Lys) rs45517153
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153
p.?

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