ClinVar Miner

List of variants in gene TSC2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2895
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HGVS dbSNP
NC_000016.9:g.(?_2098588)_(2115636_?)del
NC_000016.9:g.(?_2098597)_(2115656_?)del
NC_000016.9:g.(?_2098597)_(2124416_?)del
NC_000016.9:g.(?_2098597)_(2130398_?)del
NC_000016.9:g.(?_2098611)_(2110820_?)dup
NC_000016.9:g.(?_2098611)_(2138617_?)del
NC_000016.9:g.(?_2098645)_(2130379_2131595)del
NC_000016.9:g.(?_2100381)_(2100507_?)del
NC_000016.9:g.(?_2100381)_(2115656_?)dup
NC_000016.9:g.(?_2100391)_(2100497_?)del
NC_000016.9:g.(?_2103323)_(2107460_?)del
NC_000016.9:g.(?_2103343)_(2110814_?)del
NC_000016.9:g.(?_2106177)_(2114448_?)del
NC_000016.9:g.(?_2106177)_(2124416_?)del
NC_000016.9:g.(?_2108738)_(2138621_?)dup
NC_000016.9:g.(?_2108742)_(2138617_?)dup
NC_000016.9:g.(?_2110651)_(2115656_?)dup
NC_000016.9:g.(?_2115500)_(2124416_?)del
NC_000016.9:g.(?_2122222)_(2127477_?)del
NC_000016.9:g.(?_2131590)_(2138617_?)del
NC_000016.9:g.(?_2137858)_(2138617_?)del
NC_000016.9:g.2124200_2138612dup
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.2358_2359delCG (p.Glu787Aspfs) rs1555507462
NM_000548.3(TSC2):c.3884-497_5045del
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.482_*102del
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-?_1716+?del
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.4572_4577dup (p.Ser1526_Phe1527insGlnSer) rs773676752
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.*23C>T rs774841226
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*44T>C rs188991734
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>A rs201342697
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.*71C>T rs45498900
NM_000548.5(TSC2):c.*77G>A rs886051799
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-65G>C rs563544506
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
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.1004C>T (p.Ser335Phe) rs45517144
NM_000548.5(TSC2):c.1005C>G (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1007A>T (p.Tyr336Phe)
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.1010A>T (p.Glu337Val)
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs) rs137854269
NM_000548.5(TSC2):c.1015G>C (p.Val339Leu) rs559727962
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) rs397515192
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val) rs1060500913
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.1036A>G (p.Ile346Val) rs768760795
NM_000548.5(TSC2):c.1036A>T (p.Ile346Phe)
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.1047dup (p.Arg350Ter) rs1555500535
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg) rs748109163
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
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.1078A>G (p.Ile360Val) rs1555500560
NM_000548.5(TSC2):c.1080dup (p.Leu361fs) rs397515198
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro) rs45517147
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.1088A>G (p.Asn363Ser) rs1567423658
NM_000548.5(TSC2):c.1088A>T (p.Asn363Ile) rs1567423658
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>C (p.Glu366Gln) rs45517148
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.1102C>T (p.Leu368Phe) rs1567423904
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
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.1115T>C (p.Leu372Pro) rs1060500919
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.1118A>G (p.Gln373Arg) rs397515131
NM_000548.5(TSC2):c.1119+1G>A rs45475793
NM_000548.5(TSC2):c.1119+1G>C 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+3G>C
NM_000548.5(TSC2):c.1119+6G>A
NM_000548.5(TSC2):c.1119+6G>C rs397515305
NM_000548.5(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser) rs1440918649
NM_000548.5(TSC2):c.1126G>A (p.Asp376Asn) rs1060500976
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg) rs45517154
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1135del (p.Glu379fs) rs137854072
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
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.1145_1146del (p.Thr382fs) rs1567428094
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.1153C>G (p.His385Asp)
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.1160dup (p.Leu388fs) rs878854075
NM_000548.5(TSC2):c.1167del (p.Thr390fs) rs137854283
NM_000548.5(TSC2):c.116T>C (p.Ile39Thr) rs184437554
NM_000548.5(TSC2):c.1171G>A (p.Val391Met) rs1555501071
NM_000548.5(TSC2):c.1172T>C (p.Val391Ala) rs1414372155
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)
NM_000548.5(TSC2):c.1208C>T (p.Ser403Phe) rs1555501098
NM_000548.5(TSC2):c.120del (p.Thr41fs) rs397515085
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1212G>A (p.Gln404=) rs1156766051
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp) rs45517156
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)
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.1223T>G (p.Phe408Cys) rs1555501123
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.1231G>T (p.Val411Leu) rs1567428822
NM_000548.5(TSC2):c.1234del (p.Glu412fs) rs397515027
NM_000548.5(TSC2):c.1235A>G (p.Glu412Gly) rs137854026
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val) rs137854026
NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr) rs45517157
NM_000548.5(TSC2):c.1247A>C (p.Asp416Ala)
NM_000548.5(TSC2):c.1248C>T (p.Asp416=) rs1555501144
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.1256C>T (p.Pro419Leu) rs1237876686
NM_000548.5(TSC2):c.1257+107dup rs397514987
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+1G>C
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.1257+2_1257+3del
NM_000548.5(TSC2):c.1257+8C>A rs767392684
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>A rs45517161
NM_000548.5(TSC2):c.1258-3C>G rs45517161
NM_000548.5(TSC2):c.1258G>A (p.Glu420Lys) rs796053484
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs) rs137854238
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)
NM_000548.5(TSC2):c.1275C>A (p.Asn425Lys) rs878854076
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.1282del (p.Ser428fs) rs1555501373
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys) rs774727624
NM_000548.5(TSC2):c.1287T>G (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.1297T>G (p.Ser433Ala)
NM_000548.5(TSC2):c.1298C>A (p.Ser433Tyr) rs397515187
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1303C>A (p.His435Asn)
NM_000548.5(TSC2):c.1304A>T (p.His435Leu) rs1555501389
NM_000548.5(TSC2):c.1304_1306del (p.His435del)
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr) rs1190102918
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.1325T>G (p.Ile442Ser) rs879255344
NM_000548.5(TSC2):c.1329G>C (p.Gln443His) rs1459924996
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys) rs535984356
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.1339G>A (p.Ala447Thr)
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)
NM_000548.5(TSC2):c.133C>T (p.Leu45=) rs1555494707
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1340C>G (p.Ala447Gly) rs45486591
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.1345A>T (p.Met449Leu) rs1555501441
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.134T>G (p.Leu45Arg) rs1383831944
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
NM_000548.5(TSC2):c.1353A>G (p.Arg451=) rs1555501456
NM_000548.5(TSC2):c.135G>T (p.Leu45=) rs1555494715
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+3A>G rs1567431655
NM_000548.5(TSC2):c.1361+54_1361+57del rs137854304
NM_000548.5(TSC2):c.1361+9T>C rs1041094432
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.1362-5C>G rs372424945
NM_000548.5(TSC2):c.1362-62G>C rs45517167
NM_000548.5(TSC2):c.1362-70A>C rs45517168
NM_000548.5(TSC2):c.1362-7C>G rs1555501647
NM_000548.5(TSC2):c.1362-9G>A rs763842281
NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn) rs1567432782
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly) rs876659386
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
NM_000548.5(TSC2):c.136_138+1del rs137854117
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr) rs1278503244
NM_000548.5(TSC2):c.1371C>G (p.Ser457=) rs1060504093
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys) rs1567432890
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
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+10C>G rs748932830
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.138+6T>C
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1383_1384GC[3] (p.Ile463fs) rs397515037
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly)
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.1388T>G (p.Ile463Ser) rs1060500940
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.139-6C>G rs778516569
NM_000548.5(TSC2):c.1390A>C (p.Lys464Gln)
NM_000548.5(TSC2):c.1390A>G (p.Lys464Glu) rs1555501694
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.1400A>G (p.Asp467Gly) rs1060500977
NM_000548.5(TSC2):c.1402G>A (p.Val468Met)
NM_000548.5(TSC2):c.1407del (p.Ser470fs) rs137854390
NM_000548.5(TSC2):c.1410del (p.Phe471fs) rs137854066
NM_000548.5(TSC2):c.1417C>G (p.Leu473Val) rs1321215329
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp) rs137854133
NM_000548.5(TSC2):c.1425C>G (p.Ile475Met)
NM_000548.5(TSC2):c.1425del (p.Asn476fs) rs397515234
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg) rs1555501733
NM_000548.5(TSC2):c.1434G>A (p.Gln478=) rs1555501735
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.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
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.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.1458del (p.Ser487fs) rs1567437155
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) rs760205499
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val) rs45517175
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter) rs45517176
NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter) rs1060500931
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.147C>T (p.Ser49=) rs1555495692
NM_000548.5(TSC2):c.1480T>C (p.Ser494Pro) rs1555502412
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1490C>A (p.Pro497His)
NM_000548.5(TSC2):c.1490C>T (p.Pro497Leu)
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.1495G>A (p.Asp499Asn) rs1555502438
NM_000548.5(TSC2):c.149T>C (p.Met50Thr) rs1060500955
NM_000548.5(TSC2):c.1502del (p.Asp501fs) rs1567437492
NM_000548.5(TSC2):c.1504C>T (p.His502Tyr) rs1567437505
NM_000548.5(TSC2):c.1505del (p.His502fs) rs397514948
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1508A>G (p.Gln503Arg) rs1567437568
NM_000548.5(TSC2):c.1508del (p.Gln503fs) rs397514993
NM_000548.5(TSC2):c.1508dup (p.Val504fs) rs397515210
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly) rs45517179
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.1533G>T (p.Leu511Phe)
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1546del (p.Ala516fs) rs397515272
NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter) rs1555502518
NM_000548.5(TSC2):c.1555del (p.Cys519fs) rs137854275
NM_000548.5(TSC2):c.1559_1560AC[3] (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.1559_1560AC[5] (p.His523fs) rs1555502530
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.1567C>T (p.His523Tyr) rs1567438108
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1575C>T (p.Asn525=) rs1060504098
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.1579_1582del (p.Leu527fs) rs137854246
NM_000548.5(TSC2):c.1582del (p.Leu528fs) rs1060499647
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.1588A>G (p.Ile530Val) rs786203470
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.1597_1599del (p.Lys533del)
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.1599+9_1599+34dup rs1555502601
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.1600-13C>G rs1800712
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.1600-8C>T rs1555503101
NM_000548.5(TSC2):c.1600G>A (p.Val534Met)
NM_000548.5(TSC2):c.1603A>T (p.Met535Leu) rs1309598467
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val) rs45517187
NM_000548.5(TSC2):c.1609C>A (p.Arg537Ser) rs142257684
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1609dup (p.Arg537fs) rs1555503131
NM_000548.5(TSC2):c.1610G>T (p.Arg537Leu) rs372681603
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.1613C>G (p.Ser538Cys)
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe) rs201334685
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs) rs137854281
NM_000548.5(TSC2):c.1616del (p.Leu539fs) rs137854100
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr)
NM_000548.5(TSC2):c.1622C>A (p.Pro541Gln) rs752953762
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762
NM_000548.5(TSC2):c.1625C>G (p.Pro542Arg) rs764191178
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.1643G>C (p.Arg548Thr) rs748938385
NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly) rs1170792905
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs) rs137854245
NM_000548.5(TSC2):c.164A>G (p.Asn55Ser) rs1555495709
NM_000548.5(TSC2):c.1651G>T (p.Ala551Ser) rs149877669
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr) rs777121421
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val) rs1555503231
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1660T>A (p.Ser554Thr)
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) rs45471596
NM_000548.5(TSC2):c.1673A>G (p.Glu558Gly)
NM_000548.5(TSC2):c.1677T>C (p.Asp559=) rs1555503256
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018
NM_000548.5(TSC2):c.1690G>A (p.Val564Ile) rs147072281
NM_000548.5(TSC2):c.1693C>G (p.Leu565Val) rs878854078
NM_000548.5(TSC2):c.1693del (p.Leu565fs) rs137854087
NM_000548.5(TSC2):c.1696G>A (p.Gly566Arg)
NM_000548.5(TSC2):c.1698_1716+1del rs397515151
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys) rs1430159201
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly) rs1555494544
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.1711C>T (p.Leu571Phe)
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+3G>C
NM_000548.5(TSC2):c.1716+5G>C
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.1717-2A>C
NM_000548.5(TSC2):c.1717-30G>A rs45500703
NM_000548.5(TSC2):c.1717-55T>C rs7187438
NM_000548.5(TSC2):c.1717-8C>G rs755425128
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) rs773304374
NM_000548.5(TSC2):c.171del (p.Ile58fs) rs397515042
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro) rs1567456901
NM_000548.5(TSC2):c.1725G>A (p.Leu575=) rs747173035
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile) rs770895919
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.1738G>A (p.Ala580Thr)
NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly) rs765043471
NM_000548.5(TSC2):c.1741dup (p.Ser581fs) rs137854348
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn) rs45517197
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398
NM_000548.5(TSC2):c.1744C>G (p.His582Asp)
NM_000548.5(TSC2):c.1744_1748CACGC[3] (p.Arg585fs) rs1567457100
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.1759T>C (p.Tyr587His) rs1555505094
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
NM_000548.5(TSC2):c.1760A>G (p.Tyr587Cys)
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>C (p.Tyr587=) rs753179817
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys)
NM_000548.5(TSC2):c.1762_1763GA[1] (p.Glu588fs) rs1555505103
NM_000548.5(TSC2):c.1765A>G (p.Met589Val) rs1567457356
NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs)
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro) rs137854229
NM_000548.5(TSC2):c.176G>C (p.Arg59Pro) rs1161261925
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile) rs984275273
NM_000548.5(TSC2):c.1771del (p.Val591fs) rs137854418
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556
NM_000548.5(TSC2):c.1776C>T (p.Ser592=) rs1555505122
NM_000548.5(TSC2):c.1777C>T (p.His593Tyr) rs1555505123
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1780A>G (p.Ile594Val) rs1555505128
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.1793A>T (p.Tyr598Phe)
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.1797G>A (p.Lys599=) rs1168827262
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs) rs397515132
NM_000548.5(TSC2):c.1805A>G (p.Tyr602Cys)
NM_000548.5(TSC2):c.1807A>G (p.Thr603Ala) rs876660140
NM_000548.5(TSC2):c.1809C>T (p.Thr603=) rs1016247433
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala) rs1295352648
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu) rs1555505178
NM_000548.5(TSC2):c.1815A>T (p.Pro605=) rs961687056
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.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.1823G>C (p.Ser608Thr) rs753235037
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.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898
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+2T>C rs1555505211
NM_000548.5(TSC2):c.1839+3A>G
NM_000548.5(TSC2):c.1839+46G>A rs397515180
NM_000548.5(TSC2):c.1839+4T>C rs1246472342
NM_000548.5(TSC2):c.1839+5G>C rs200568460
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1839G>C (p.Gln613His) rs1555505208
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.1840-3C>T rs397515154
NM_000548.5(TSC2):c.1840-6T>G rs747952317
NM_000548.5(TSC2):c.1840-7C>G rs1567461653
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) rs397515199
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.1848C>G (p.Asp616Glu)
NM_000548.5(TSC2):c.1852C>T (p.Leu618=) rs1164507294
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1859T>C (p.Leu620Pro) rs1567461912
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.1867G>T (p.Ala623Ser)
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn) rs1334081822
NM_000548.5(TSC2):c.1872delinsTT (p.Ser625fs) rs397515017
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1876C>G (p.Leu626Val)
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.1885C>G (p.Leu629Val)
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
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.1903G>A (p.Asp635Asn) rs1060500932
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)
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.190A>T (p.Ile64Phe)
NM_000548.5(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.5(TSC2):c.1912G>C (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile) rs397514964
NM_000548.5(TSC2):c.1924C>A (p.Pro642Thr) rs889366862
NM_000548.5(TSC2):c.1925C>G (p.Pro642Arg) rs1408228669
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs) rs137854339
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly) rs1567462577
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu)
NM_000548.5(TSC2):c.1934dup (p.Cys646fs) rs397515019
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.193T>C (p.Cys65Arg) rs1060500965
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+3A>C
NM_000548.5(TSC2):c.1946+5G>T rs766646261
NM_000548.5(TSC2):c.1946+60G>C rs45491895
NM_000548.5(TSC2):c.1946+6C>A rs754069880
NM_000548.5(TSC2):c.1946+6C>G rs754069880
NM_000548.5(TSC2):c.1946+9G>T rs1470276886
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-10G>A rs778293037
NM_000548.5(TSC2):c.1947-10_1947-7del
NM_000548.5(TSC2):c.1947-1G>A rs397515310
NM_000548.5(TSC2):c.1947-2A>G rs45517207
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.1947-7T>C rs45450193
NM_000548.5(TSC2):c.1948del (p.Glu650Serfs)
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu)
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.1964C>T (p.Ser655Phe) rs1442388532
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.1976C>A (p.Thr659Asn)
NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser)
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) rs754504918
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.1984C>G (p.Pro662Ala) rs1309151152
NM_000548.5(TSC2):c.1987del (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1987dup (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg) rs1555506026
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr) rs991714565
NM_000548.5(TSC2):c.1991C>G (p.Ser664Cys) rs991714565
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)
NM_000548.5(TSC2):c.199G>A (p.Val67Ile) rs774506901
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter) rs397514951
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.2009del (p.Pro670fs) rs1060500934
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847
NM_000548.5(TSC2):c.2013C>T (p.Gly671=) rs566848799
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala) rs1262368552
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000548.5(TSC2):c.2016G>C (p.Pro672=) rs774517903
NM_000548.5(TSC2):c.2016_2030dup (p.Pro674_Ala678dup) rs1430327271
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096
NM_000548.5(TSC2):c.201_202delinsTC (p.Ala68Pro) rs1567387058
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr) rs764840082
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu) rs1555506090
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs) rs137854309
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) rs754556513
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro) rs767626323
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2031dup (p.Ala678fs) rs397515050
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2033C>G (p.Ala678Gly) rs1567464805
NM_000548.5(TSC2):c.2038C>G (p.Arg680Gly) rs876658578
NM_000548.5(TSC2):c.2039G>C (p.Arg680Pro) rs756536921
NM_000548.5(TSC2):c.2042T>A (p.Leu681Gln) rs878854079
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro)
NM_000548.5(TSC2):c.2044G>T (p.Gly682Trp) rs1432565227
NM_000548.5(TSC2):c.2045G>A (p.Gly682Glu) rs1567465004
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2048C>T (p.Ser683Phe)
NM_000548.5(TSC2):c.2049C>A (p.Ser683=)
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu) rs1555506150
NM_000548.5(TSC2):c.2050del (p.Val684fs) rs397515141
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu) rs45517095
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter) rs45517095
NM_000548.5(TSC2):c.2060C>T (p.Ser687Phe)
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs) rs137854211
NM_000548.5(TSC2):c.2064G>C (p.Leu688=) rs1202311439
NM_000548.5(TSC2):c.2065C>T (p.Leu689Phe) rs1567465268
NM_000548.5(TSC2):c.2070C>A (p.Phe690Leu) rs558292668
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
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.2074G>A (p.Val692Ile) rs201769220
NM_000548.5(TSC2):c.2074G>T (p.Val692Phe) rs201769220
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.2086_2089delinsCG (p.Cys696fs) rs1555506201
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+13G>A rs367915255
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.2097+4A>G rs1567465686
NM_000548.5(TSC2):c.2097+5G>C rs977777731
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.2098-3C>A
NM_000548.5(TSC2):c.2098-4G>T rs1306044216
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys) rs45496402
NM_000548.5(TSC2):c.209C>G (p.Thr70Ser)
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.2112G>A (p.Lys704=) rs1555506423
NM_000548.5(TSC2):c.2112G>C (p.Lys704Asn) rs1555506423
NM_000548.5(TSC2):c.2112G>T (p.Lys704Asn) rs1555506423
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.2119A>G (p.Lys707Glu)
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2125G>T (p.Val709Phe) rs1567467135
NM_000548.5(TSC2):c.2127del (p.Leu710fs) rs397515178
NM_000548.5(TSC2):c.2133C>T (p.Gly711=) rs1060500915
NM_000548.5(TSC2):c.2137C>T (p.Leu713=) rs1555506453
NM_000548.5(TSC2):c.2138T>C (p.Leu713Pro) rs1060500942
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.2158A>G (p.Lys720Glu)
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582
NM_000548.5(TSC2):c.2163del (p.Leu722fs) rs137854109
NM_000548.5(TSC2):c.2164C>T (p.Leu722Phe) rs1029969953
NM_000548.5(TSC2):c.2167A>T (p.Ile723Phe) rs764725850
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs) rs137854216
NM_000548.5(TSC2):c.2174C>A (p.Thr725Asn) rs1567467623
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.2184C>T (p.Cys728=) rs1555506557
NM_000548.5(TSC2):c.2188G>A (p.Val730Met) rs1555506559
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.2204C>T (p.Ser735Phe)
NM_000548.5(TSC2):c.2206G>A (p.Ala736Thr)
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe) rs1485034650
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro) rs45464093
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr) rs757347786
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.2221-3C>G rs1555506834
NM_000548.5(TSC2):c.2221-7T>G rs45517219
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2225C>T (p.Ser742Leu) rs45517220
NM_000548.5(TSC2):c.2227G>A (p.Gly743Ser) rs1555506852
NM_000548.5(TSC2):c.2230C>G (p.Pro744Ala)
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg) rs774759789
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>A (p.Leu747Met) rs45517221
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs) rs137854126
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly) rs397515049
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.225+25AG[3] rs137854167
NM_000548.5(TSC2):c.225+2T>A rs397515105
NM_000548.5(TSC2):c.225+3A>G rs1060500963
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050
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.226-4A>G rs886051786
NM_000548.5(TSC2):c.226-6T>C
NM_000548.5(TSC2):c.226-7G>C rs1555496912
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2271C>T (p.Phe757=) rs1555506918
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.2279C>T (p.Thr760Ile) rs1060500920
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.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val) rs777614710
NM_000548.5(TSC2):c.2294_2295dup (p.Val766fs) rs137854284
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) rs777459404
NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)
NM_000548.5(TSC2):c.2303C>T (p.Pro768Leu) rs1555506977
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu) rs45499191
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met) rs762215859
NM_000548.5(TSC2):c.2308C>T (p.Leu770=) rs762215859
NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser) rs1555506986
NM_000548.5(TSC2):c.2312C>G (p.Thr771Arg) rs886051790
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790
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.2318dup (p.Leu773fs)
NM_000548.5(TSC2):c.2319A>C (p.Leu773Phe) rs1359991984
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp) rs1060500946
NM_000548.5(TSC2):c.2336A>T (p.Tyr779Phe) rs752656474
NM_000548.5(TSC2):c.2337C>T (p.Tyr779=) rs1060504118
NM_000548.5(TSC2):c.2338C>T (p.Leu780=) rs1555507017
NM_000548.5(TSC2):c.2338del (p.Leu780fs) rs137854086
NM_000548.5(TSC2):c.233T>C (p.Val78Ala)
NM_000548.5(TSC2):c.2347del (p.Thr783fs) rs137854385
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)
NM_000548.5(TSC2):c.2351A>C (p.Lys784Thr) rs1489548085
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2T>G
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2355+6A>T rs904030973
NM_000548.5(TSC2):c.2355+7G>A rs999583473
NM_000548.5(TSC2):c.2355+8G>A rs199558375
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-1G>C
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2356-3C>T
NM_000548.5(TSC2):c.2356-52_2357del rs1555507428
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2356-63A>C rs45517230
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511
NM_000548.5(TSC2):c.2358C>A (p.Arg786=) rs372834284
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
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.2369A>G (p.Tyr790Cys) rs1555507478
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.2372G>T (p.Cys791Phe) rs758961134
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.2376G>A (p.Leu792=)
NM_000548.5(TSC2):c.237A>T (p.Glu79Asp) rs1567394781
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.2384G>A (p.Gly795Asp) rs1555507503
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)
NM_000548.5(TSC2):c.2392del (p.His798fs) rs137854147
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255
NM_000548.5(TSC2):c.2396G>A (p.Arg799His) rs1567474646
NM_000548.5(TSC2):c.2399G>A (p.Cys800Tyr) rs746044783
NM_000548.5(TSC2):c.2399G>C (p.Cys800Ser)
NM_000548.5(TSC2):c.2399del (p.Cys800fs) rs137854377
NM_000548.5(TSC2):c.2399dup (p.Cys800fs) rs137854170
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs) rs397515158
NM_000548.5(TSC2):c.2404dup (p.Ser802fs) rs137854182
NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn) rs1015629239
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter) rs45517234
NM_000548.5(TSC2):c.2409G>T (p.Gln803His) rs1400548727
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2413G>A (p.Val805Ile) rs768683470
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.2417T>C (p.Val806Ala)
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.2429_2461delinsC (p.Ile810fs) rs878854082
NM_000548.5(TSC2):c.2430dup (p.Cys811fs) rs137853997
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys) rs45485395
NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)
NM_000548.5(TSC2):c.2446C>G (p.Pro816Ala) rs760265207
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.244T>C (p.Trp82Arg) rs878854083
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
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.246G>A (p.Trp82Ter) rs1567394860
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs) rs137854206
NM_000548.5(TSC2):c.2473G>A (p.Val825Ile) rs149860212
NM_000548.5(TSC2):c.2473G>C (p.Val825Leu) rs149860212
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2476C>G (p.Leu826Val)
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044
NM_000548.5(TSC2):c.2479_2481GTG[1] (p.Val828del)
NM_000548.5(TSC2):c.2481G>A (p.Val827=)
NM_000548.5(TSC2):c.2482G>A (p.Val828Met) rs150178524
NM_000548.5(TSC2):c.2484G>A (p.Val828=) rs780395534
NM_000548.5(TSC2):c.2488C>T (p.Leu830Phe)
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.2501C>G (p.Ser834Ter)
NM_000548.5(TSC2):c.2508A>G (p.Thr836=) rs137854242
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2525del (p.Pro842fs) rs137854375
NM_000548.5(TSC2):c.2530C>G (p.Leu844Val)
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.2539_2540del (p.Leu847fs) rs1060500938
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.2543C>G (p.Ser848Cys) rs1060500922
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+5G>C rs1131691965
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.2546-4G>A rs746958032
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val)
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2560C>G (p.Pro854Ala) rs1060500959
NM_000548.5(TSC2):c.2560C>T (p.Pro854Ser) rs1060500959
NM_000548.5(TSC2):c.2565C>A (p.His855Gln)
NM_000548.5(TSC2):c.2574G>T (p.Arg858Ser)
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.258G>C (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.2592G>C (p.Gln864His)
NM_000548.5(TSC2):c.2599A>G (p.Ser867Gly)
NM_000548.5(TSC2):c.2608G>T (p.Ala870Ser) rs1060500975
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup) rs137854092
NM_000548.5(TSC2):c.2613C>T (p.Ile871=) rs1555508408
NM_000548.5(TSC2):c.2617C>T (p.Leu873=) rs1555508418
NM_000548.5(TSC2):c.2619G>T (p.Leu873=) rs137854054
NM_000548.5(TSC2):c.261T>C (p.Asp87=) rs1555496967
NM_000548.5(TSC2):c.2628dup (p.Asn877fs) rs137854097
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser) rs1567482364
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.2633C>A (p.Pro878His) rs1060500925
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs) rs397514943
NM_000548.5(TSC2):c.2636C>T (p.Ser879Phe) rs1555508444
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.2640-7A>G rs1555508569
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>G (p.Gln883Glu) rs45476100
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.2653A>G (p.Ile885Val) rs1555508581
NM_000548.5(TSC2):c.2656G>T (p.Val886Leu) rs999523698
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_2664del (p.Cys887fs) rs1060500914
NM_000548.5(TSC2):c.2661_2699del (p.Leu888_Cys900del)
NM_000548.5(TSC2):c.2661_2707del (p.Ala889fs) rs397515098
NM_000548.5(TSC2):c.2665G>A (p.Ala889Thr) rs397515054
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.2678T>C (p.Ile893Thr) rs796053491
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.2686T>C (p.Trp896Arg) rs1567483855
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.2712C>G (p.Phe904Leu) rs137920189
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.2719G>T (p.Asp907Tyr) rs1287273870
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr) rs1555496979
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser) rs1555496979
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.2732T>G (p.Phe911Cys)
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.2739T>C (p.Thr913=) rs773285889
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln) rs1422374195
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.2743-17_2743-10del rs1555508844
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.2748G>A (p.Leu916=) rs757674443
NM_000548.5(TSC2):c.274del (p.Glu92fs) rs137854422
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.2750G>C (p.Arg917Pro) rs397515046
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
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.2764_2765del (p.Leu922fs) rs1555508929
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.2768C>G (p.Ser923Cys) rs587778731
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
NM_000548.5(TSC2):c.2768dup (p.Phe924_Asp925insTer) rs137854402
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs) rs137854202
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp) rs760688660
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.2787G>T (p.Glu929Asp) rs968144525
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp) rs1060500935
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
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.27A>G (p.Ser9=) rs1555494555
NM_000548.5(TSC2):c.2804C>A (p.Ala935Asp)
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val) rs1555508975
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr) rs1051616
NM_000548.5(TSC2):c.2812A>C (p.Thr938Pro) rs1567486660
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs) rs137853975
NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe)
NM_000548.5(TSC2):c.281del (p.Pro94fs) rs137854179
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly) rs1018951391
NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
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+5G>A rs786203791
NM_000548.5(TSC2):c.2837+80C>T rs137854131
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2838-4A>C rs45517272
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2838-6C>T rs528706539
NM_000548.5(TSC2):c.2838-7C>A rs752762518
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro) rs1555509447
NM_000548.5(TSC2):c.2843G>T (p.Arg948Met) rs1555509449
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser) rs45517273
NM_000548.5(TSC2):c.2858C>G (p.Pro953Arg)
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
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.2868C>T (p.Gly956=) rs141573736
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer) rs1057518322
NM_000548.5(TSC2):c.2872A>G (p.Asn958Asp) rs1567490706
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833
NM_000548.5(TSC2):c.2878T>G (p.Ser960Ala) rs1005027685
NM_000548.5(TSC2):c.2879C>G (p.Ser960Cys)
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275
NM_000548.5(TSC2):c.2890A>G (p.Lys964Glu)
NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu) rs1567490884
NM_000548.5(TSC2):c.289G>C (p.Ala97Pro)
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del) rs1460562160
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp)
NM_000548.5(TSC2):c.2912C>T (p.Ala971Val)
NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr) rs1567490981
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)
NM_000548.5(TSC2):c.2917G>C (p.Glu973Gln) rs780981335
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2922C>T (p.Ala974=) rs1555509505
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2932C>G (p.Arg978Gly)
NM_000548.5(TSC2):c.2933G>T (p.Arg978Leu)
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)
NM_000548.5(TSC2):c.2942G>C (p.Ser981Thr)
NM_000548.5(TSC2):c.2954A>G (p.His985Arg) rs1330306605
NM_000548.5(TSC2):c.2956G>A (p.Val986Met)
NM_000548.5(TSC2):c.2960T>G (p.Val987Gly) rs1391148381
NM_000548.5(TSC2):c.2961C>A (p.Val987=) rs775637322
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2965A>G (p.Ser989Gly) rs1567491278
NM_000548.5(TSC2):c.2966+4G>T rs1235253082
NM_000548.5(TSC2):c.2966+6G>A rs878854088
NM_000548.5(TSC2):c.2966+92_2966+94dup rs397515128
NM_000548.5(TSC2):c.2966G>C (p.Ser989Thr) rs1555509538
NM_000548.5(TSC2):c.2967-1G>T
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs) rs397515185
NM_000548.5(TSC2):c.2973A>C (p.Ile991=) rs750003833
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.2987C>T (p.Thr996Ile)
NM_000548.5(TSC2):c.2988del (p.Ser997fs) rs397515269
NM_000548.5(TSC2):c.2989A>G (p.Ser997Gly) rs1555510209
NM_000548.5(TSC2):c.2990G>T (p.Ser997Ile)
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)
NM_000548.5(TSC2):c.3005C>T (p.Ser1002Phe) rs748261129
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr) rs1555510234
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.301G>A (p.Val101Met) rs878854089
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)
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.3026C>T (p.Ala1009Val) rs1567496227
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter) rs45514100
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.5(TSC2):c.3032del (p.Ala1011fs)
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.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3048A>G (p.Lys1016=) rs1555510299
NM_000548.5(TSC2):c.3057C>T (p.His1019=) rs1060504102
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs) rs397515211
NM_000548.5(TSC2):c.3068C>T (p.Thr1023Met) rs1555510327
NM_000548.5(TSC2):c.3070G>A (p.Glu1024Lys) rs1060500960
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.3084C>T (p.Asp1028=) rs1555510350
NM_000548.5(TSC2):c.3089T>C (p.Met1030Thr) rs1567496821
NM_000548.5(TSC2):c.308C>T (p.Ala103Val) rs1555497043
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>A (p.Arg1032Gln) rs45491698
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.310C>G (p.Leu104Val)
NM_000548.5(TSC2):c.3114C>A (p.Phe1038Leu) rs1567497089
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs) rs137853989
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)
NM_000548.5(TSC2):c.3125C>G (p.Pro1042Arg) rs745731000
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.3131+3C>A rs1420280878
NM_000548.5(TSC2):c.3131+8C>A rs763702215
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.3132-1G>T rs45443096
NM_000548.5(TSC2):c.3132-2A>C rs45517282
NM_000548.5(TSC2):c.3132-30A>G rs45517283
NM_000548.5(TSC2):c.3133T>A (p.Ser1045Thr)
NM_000548.5(TSC2):c.3134C>G (p.Ser1045Cys) rs1567497647
NM_000548.5(TSC2):c.3136C>T (p.Pro1046Ser) rs774008119
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.3145G>T (p.Glu1049Ter)
NM_000548.5(TSC2):c.3155T>C (p.Leu1052Pro) rs878854091
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg) rs45517285
NM_000548.5(TSC2):c.317A>C (p.Lys106Thr) rs1567395686
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3181C>G (p.Leu1061Val) rs946673791
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3182T>G (p.Leu1061Arg) rs397514919
NM_000548.5(TSC2):c.3189del (p.Asn1064fs) rs1567498041
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3198dup (p.Val1067fs) rs137854177
NM_000548.5(TSC2):c.3199G>C (p.Val1067Leu) rs200681169
NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro) rs1060500947
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.3210G>A (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) rs45498892
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) 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.3223A>G (p.Thr1075Ala)
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.3226G>A (p.Gly1076Arg) rs747910305
NM_000548.5(TSC2):c.322A>G (p.Ile108Val) rs955754399
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile) rs137854279
NM_000548.5(TSC2):c.3235T>G (p.Ser1079Ala) rs1555510643
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3239del (p.Leu1080fs) rs397515061
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
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.3255G>A (p.Ser1085=) rs750617693
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
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.325G>A (p.Val109Met) rs369932305
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=) rs45438093
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.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs) rs137854213
NM_000548.5(TSC2):c.3269C>A (p.Ser1090Tyr)
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=) rs1060500971
NM_000548.5(TSC2):c.3275del (p.Pro1092fs) rs397515096
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=) rs1060504095
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+25C>T
NM_000548.5(TSC2):c.3284+45G>A rs140027616
NM_000548.5(TSC2):c.3284+5C>G
NM_000548.5(TSC2):c.3284+6T>G rs375837026
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.3285C>T (p.Ser1095=) rs745446277
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro) rs755815612
NM_000548.5(TSC2):c.3290G>A (p.Ser1097Asn) rs1060500912
NM_000548.5(TSC2):c.3294del (p.Val1100fs) rs397515048
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr) rs1060500933
NM_000548.5(TSC2):c.3303T>C (p.His1101=) rs1233334406
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
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.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3319_3320delinsCT (p.Glu1107Leu)
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala) rs1555510880
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.3328G>A (p.Ala1110Thr) rs1260370117
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly) rs1060500923
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3336G>T (p.Leu1112=) rs1389714633
NM_000548.5(TSC2):c.3337G>A (p.Glu1113Lys) rs1567500491
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.333G>C (p.Gly111=) rs1198874350
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup) rs1567500517
NM_000548.5(TSC2):c.3346G>A (p.Ala1116Thr)
NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly) rs878854092
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.3356A>G (p.Gln1119Arg) rs1567500641
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu) rs397514895
NM_000548.5(TSC2):c.335_336+14del
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1G>C 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+5G>C rs1057523242
NM_000548.5(TSC2):c.336+61C>T rs397514989
NM_000548.5(TSC2):c.3363C>G (p.Ser1121=) rs1555510946
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.3368G>A (p.Gly1123Glu) rs1060500968
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.3373C>T (p.Arg1125Trp)
NM_000548.5(TSC2):c.3373del (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874
NM_000548.5(TSC2):c.3383del (p.Val1128fs) rs137853996
NM_000548.5(TSC2):c.3384_3397+2del rs137854190
NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala)
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=) rs867238767
NM_000548.5(TSC2):c.3390del (p.Met1131fs) rs137854161
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.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.3397G>A (p.Gly1133Arg) rs1555511031
NM_000548.5(TSC2):c.3398-10T>C rs137854369
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.3398-5_3398-3del rs1060500917
NM_000548.5(TSC2):c.3398-6C>T rs1555511284
NM_000548.5(TSC2):c.3398G>A (p.Gly1133Glu) rs1208166840
NM_000548.5(TSC2):c.339del (p.Glu114fs) rs137854063
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp) rs766223343
NM_000548.5(TSC2):c.3404A>G (p.His1135Arg) rs1309968292
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.3413G>C (p.Arg1138Pro) rs143168379
NM_000548.5(TSC2):c.3413G>T (p.Arg1138Leu) rs143168379
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs) rs397515244
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile) rs759174655
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.3425dup (p.Asp1143fs) rs137854313
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp) rs1555497542
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.3435G>A (p.Pro1145=) rs749633483
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)
NM_000548.5(TSC2):c.343del (p.Arg115fs) rs397514918
NM_000548.5(TSC2):c.3440C>T (p.Ser1147Phe) rs779149155
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu) rs1265832990
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.3461C>G (p.Thr1154Ser)
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe) rs1060500948
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.5(TSC2):c.346T>C (p.Leu116=) rs751923657
NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala)
NM_000548.5(TSC2):c.3472C>A (p.Pro1158Thr)
NM_000548.5(TSC2):c.3472C>T (p.Pro1158Ser) rs759350468
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg)
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.347del (p.Leu116fs) rs1567398983
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=) rs766888262
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901
NM_000548.5(TSC2):c.3484C>G (p.Pro1162Ala) rs895935495
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser) rs895935495
NM_000548.5(TSC2):c.3488C>A (p.Ala1163Asp)
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.3495A>T (p.Lys1165Asn) rs1555511443
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.3505G>T (p.Ala1169Ser)
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.3509C>T (p.Ser1170Leu) rs45517296
NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp) rs1567504268
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3520del (p.Arg1174fs) rs137854326
NM_000548.5(TSC2):c.3521G>T (p.Arg1174Leu)
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu) rs753110463
NM_000548.5(TSC2):c.352G>A (p.Val118Ile) rs878854094
NM_000548.5(TSC2):c.352G>T (p.Val118Phe) rs878854094
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu) rs1567504468
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.3535G>T (p.Glu1179Ter) rs45483391
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del) rs1060500937
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458
NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu) rs1060500939
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe)
NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter) rs1202939879
NM_000548.5(TSC2):c.3559del (p.Val1187fs) rs137854163
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.356T>G (p.Leu119Arg) rs1477548902
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) rs45517298
NM_000548.5(TSC2):c.3574del (p.Gln1192fs) rs137854014
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)
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.3586G>T (p.Glu1196Ter) rs1555511585
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3595G>A (p.Val1199Ile)
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>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro) rs397515225
NM_000548.5(TSC2):c.3602G>A (p.Arg1201Lys)
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.3609A>G (p.Thr1203=) rs1567505082
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+1G>C rs45517299
NM_000548.5(TSC2):c.3610+25G>C rs45517300
NM_000548.5(TSC2):c.3610+3A>G
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>G rs397515169
NM_000548.5(TSC2):c.3611-2A>T rs397515169
NM_000548.5(TSC2):c.3611-5C>A
NM_000548.5(TSC2):c.3611-6C>T rs989103352
NM_000548.5(TSC2):c.3611-9C>T rs45517304
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3615C>G (p.Asn1205Lys)
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.3634C>T (p.Leu1212=) rs1358537146
NM_000548.5(TSC2):c.3637del (p.Glu1213fs) rs397515010
NM_000548.5(TSC2):c.3638A>T (p.Glu1213Val) rs1555512322
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.5(TSC2):c.3641_3814+28del rs1555512330
NM_000548.5(TSC2):c.3643C>G (p.Pro1215Ala) rs1555512332
NM_000548.5(TSC2):c.3643C>T (p.Pro1215Ser)
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs) rs137854224
NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)
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.365T>A (p.Leu122His)
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.366C>T (p.Leu122=) rs1397677711
NM_000548.5(TSC2):c.366_368CTT[1] (p.Phe124del) rs1342475885
NM_000548.5(TSC2):c.3676A>G (p.Met1226Val) rs769283410
NM_000548.5(TSC2):c.3679C>T (p.Pro1227Ser) rs1555512392
NM_000548.5(TSC2):c.3683del (p.Leu1228fs)
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3686A>G (p.Gln1229Arg) rs1060500962
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.3695C>T (p.Ser1232Phe) rs886039876
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.369C>G (p.Phe123Leu) rs1567399252
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe) rs137854303
NM_000548.5(TSC2):c.3705del (p.Met1236fs) rs137854325
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr) rs1567510644
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
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.3730C>T (p.His1244Tyr) rs993614997
NM_000548.5(TSC2):c.3732C>T (p.His1244=) rs1264194267
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742
NM_000548.5(TSC2):c.3736G>C (p.Asp1246His)
NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala) rs369961807
NM_000548.5(TSC2):c.3743C>T (p.Ala1248Val) rs745342041
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3749A>G (p.Tyr1250Cys)
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.3753G>T (p.Lys1251Asn) rs1567511020
NM_000548.5(TSC2):c.3755C>G (p.Ser1252Ter) rs45517309
NM_000548.5(TSC2):c.3759del (p.Ser1254fs) rs1555512497
NM_000548.5(TSC2):c.375G>A (p.Lys125=) rs778928295
NM_000548.5(TSC2):c.3761C>T (p.Ser1254Leu)
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs) rs137854194
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
NM_000548.5(TSC2):c.3769del (p.Ala1257fs) rs137854180
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3773C>G (p.Ala1258Gly) rs1060500958
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn)
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp) rs45517310
NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg) rs765255206
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959
NM_000548.5(TSC2):c.37_39del (p.Glu13del)
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser) rs1304251276
NM_000548.5(TSC2):c.3812C>T (p.Thr1271Ile) rs1567511623
NM_000548.5(TSC2):c.3813A>G (p.Thr1271=) rs1555512577
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.3814+5G>A rs1555512582
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.3815-2A>T rs1567513626
NM_000548.5(TSC2):c.3815-3C>G rs770054036
NM_000548.5(TSC2):c.3815-8C>G
NM_000548.5(TSC2):c.3815T>G (p.Val1272Gly)
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314
NM_000548.5(TSC2):c.3819C>A (p.Ala1273=) rs1248167345
NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu) rs761713908
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3837C>G (p.Tyr1279Ter) rs1555512861
NM_000548.5(TSC2):c.3840G>C (p.Gln1280His) rs1060500941
NM_000548.5(TSC2):c.3841T>G (p.Ser1281Ala) rs1358527360
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly) rs45446700
NM_000548.5(TSC2):c.3845G>T (p.Ser1282Ile)
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn) rs748095129
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159
NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr) rs771961048
NM_000548.5(TSC2):c.385del (p.Asp129fs) rs137854059
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro) rs1567514069
NM_000548.5(TSC2):c.3866G>A (p.Arg1289Lys) rs900604900
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser)
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del) rs1567514084
NM_000548.5(TSC2):c.386A>T (p.Asp129Val) rs1555497612
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg) rs754466663
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3871G>T (p.Val1291Phe) rs201135184
NM_000548.5(TSC2):c.3875C>G (p.Ser1292Cys)
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
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.3887C>A (p.Ser1296Tyr) rs1027773484
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.388del (p.Tyr130fs) rs397514975
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala) rs758677443
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.3903G>T (p.Glu1301Asp) rs1429956058
NM_000548.5(TSC2):c.3910A>T (p.Ser1304Cys) rs1305173000
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser) rs45452994
NM_000548.5(TSC2):c.3914C>G (p.Pro1305Arg)
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.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.391C>A (p.Pro131Thr) rs777398393
NM_000548.5(TSC2):c.3924T>C (p.Val1308=) rs878854097
NM_000548.5(TSC2):c.3924dup (p.Pro1309fs) rs137854142
NM_000548.5(TSC2):c.3925C>T (p.Pro1309Ser)
NM_000548.5(TSC2):c.392C>T (p.Pro131Leu)
NM_000548.5(TSC2):c.3934G>A (p.Val1312Met)
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs) rs397515212
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter) rs45517321
NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser) rs771499212
NM_000548.5(TSC2):c.3942C>A (p.Pro1314=) rs759988275
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.3944C>T (p.Pro1315Leu) rs775990159
NM_000548.5(TSC2):c.3946G>A (p.Gly1316Arg) rs1555513510
NM_000548.5(TSC2):c.3947G>C (p.Gly1316Ala) rs1555513513
NM_000548.5(TSC2):c.394T>C (p.Ser132Pro) rs1191673224
NM_000548.5(TSC2):c.3952G>A (p.Glu1318Lys) rs1064793797
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.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3964G>A (p.Ala1322Thr) rs759790981
NM_000548.5(TSC2):c.3965C>T (p.Ala1322Val) rs1380402492
NM_000548.5(TSC2):c.3968C>A (p.Ala1323Glu)
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3971T>C (p.Leu1324Pro) rs878854098
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3984del (p.Arg1328fs) rs137854255
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.3988A>G (p.Thr1330Ala) rs1555513561
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
NM_000548.5(TSC2):c.3991del (p.Asp1331fs) rs397515058
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs) rs137854403
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter) rs775604492
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.4002C>G (p.Ser1334Arg)
NM_000548.5(TSC2):c.4002C>T (p.Ser1334=) rs1060500911
NM_000548.5(TSC2):c.4004G>C (p.Arg1335Thr) rs1403658994
NM_000548.5(TSC2):c.4005+1G>A
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+2T>A rs137854254
NM_000548.5(TSC2):c.4005+2T>C
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.4006-9C>T rs1555513765
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys) rs1555497641
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)
NM_000548.5(TSC2):c.4010C>A (p.Ser1337Tyr) rs200411484
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.4025A>G (p.Gln1342Arg) rs1060500951
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4033_4053dup (p.Lys1345_Glu1351dup)
NM_000548.5(TSC2):c.4034A>T (p.Lys1345Met) rs1302353294
NM_000548.5(TSC2):c.4035G>C (p.Lys1345Asn)
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter) rs45517326
NM_000548.5(TSC2):c.403dup (p.Asp135fs) rs137854166
NM_000548.5(TSC2):c.4040T>C (p.Leu1347Pro) rs1221929408
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4046C>A (p.Ala1349Glu)
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.4057G>T (p.Val1353Phe)
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp) rs878854102
NM_000548.5(TSC2):c.4061del (p.Gly1354fs) rs397515129
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4067del (p.Gly1356fs) rs137854330
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)
NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn) rs878854103
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu) rs397515130
NM_000548.5(TSC2):c.4078G>C (p.Glu1360Gln)
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) rs397514997
NM_000548.5(TSC2):c.4081C>T (p.Arg1361Ter) rs560831385
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.4086C>T (p.Val1362=) rs763847509
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs) rs397515126
NM_000548.5(TSC2):c.4089_4091CTC[1] (p.Ser1365del) rs755101865
NM_000548.5(TSC2):c.4090_4091delinsGT (p.Ser1364Val) rs1060500956
NM_000548.5(TSC2):c.4092C>T (p.Ser1364=) rs1251019267
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.4097A>C (p.Glu1366Ala) rs755461310
NM_000548.5(TSC2):c.409C>T (p.His137Tyr)
NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp)
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser)
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs) rs1567521369
NM_000548.5(TSC2):c.410A>G (p.His137Arg) rs45517107
NM_000548.5(TSC2):c.4112C>G (p.Ser1371Cys) rs1060500929
NM_000548.5(TSC2):c.4113_4114TG[1] (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)
NM_000548.5(TSC2):c.4121_4122TC[1] (p.Ser1375fs) rs137854289
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=) rs1060504086
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
NM_000548.5(TSC2):c.4132C>G (p.Pro1378Ala) rs1060500921
NM_000548.5(TSC2):c.4135_4160dup (p.Ser1388_Pro1389insArgSerProTer) rs1555514034
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.4140_4166dup (p.Pro1381_Pro1389dup) rs1555514052
NM_000548.5(TSC2):c.4142C>A (p.Pro1381His) rs397515264
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=) rs1162436739
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.4148G>C (p.Ser1383Thr)
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=) rs1057521540
NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn) rs1555514071
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.4166C>T (p.Pro1389Leu)
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys) rs397515033
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.4176G>C (p.Gln1392His) rs749930791
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.4179T>G (p.Thr1393=) rs1555514101
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs) rs397514935
NM_000548.5(TSC2):c.4189A>G (p.Ile1397Val)
NM_000548.5(TSC2):c.418C>T (p.Leu140=) rs1555497657
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
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.4218C>T (p.Asp1406=) rs886051794
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu) rs45517332
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) rs1060500924
NM_000548.5(TSC2):c.4220T>G (p.Val1407Gly) rs1555514182
NM_000548.5(TSC2):c.4220_4222del (p.Val1407del) rs1264774699
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly) rs45517333
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4227G>T (p.Arg1409=) rs1555514188
NM_000548.5(TSC2):c.4230G>C (p.Leu1410=) rs1193907816
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475
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.4250G>A (p.Arg1417Gln) rs1343536158
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255del (p.Gln1419fs) rs137854137
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His) rs1403321543
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.4262G>A (p.Gly1421Glu) rs1368001965
NM_000548.5(TSC2):c.4263G>T (p.Gly1421=) rs772862165
NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile) rs760230300
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs) rs397515069
NM_000548.5(TSC2):c.4268T>C (p.Leu1423Pro) rs1567523138
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly) rs876659933
NM_000548.5(TSC2):c.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.4286C>T (p.Ala1429Val) rs757579310
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.4292C>G (p.Ser1431Trp)
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4296C>G (p.Ala1432=) rs1555514284
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.4300G>T (p.Gly1434Cys) rs1555514295
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.4312C>T (p.Arg1438Trp) rs778925833
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.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095
NM_000548.5(TSC2):c.4331C>T (p.Pro1444Leu) rs550084361
NM_000548.5(TSC2):c.4332C>G (p.Pro1444=) rs373973956
NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs)
NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs) rs1555514354
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251
NM_000548.5(TSC2):c.4347_4355del (p.Arg1451_Pro1453del) rs781641545
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.4361G>A (p.Ser1454Asn) rs758233186
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg) rs1320400029
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=) rs1555514397
NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.5(TSC2):c.4370G>A (p.Arg1457Gln) rs1060500952
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.4383C>T (p.Tyr1461=) 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.439A>G (p.Thr147Ala)
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs) rs397515004
NM_000548.5(TSC2):c.4403C>T (p.Pro1468Leu) rs762423563
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter) rs45517342
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs) rs397515041
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) rs1555497690
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.4425_4426AG[2] (p.Arg1477fs) rs1567524949
NM_000548.5(TSC2):c.4426G>C (p.Glu1476Gln) rs376946970
NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys) rs752693719
NM_000548.5(TSC2):c.4431G>C (p.Arg1477Ser)
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4433A>T (p.Asp1478Val)
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val) rs397515242
NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs) rs1555514548
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.4441A>G (p.Lys1481Glu)
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.4453A>C (p.Thr1485Pro)
NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile) rs772667717
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=) rs1555514579
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp) rs878854107
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) rs766916450
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=) rs777104003
NM_000548.5(TSC2):c.4462A>G (p.Asn1488Asp)
NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser) rs999699219
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser) rs1029118280
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs) rs137854350
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=) rs1266546987
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4477C>G (p.Pro1493Ala) rs878854108
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+10T>C rs764108528
NM_000548.5(TSC2):c.4493+12_4493+15del rs1555514698
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+3G>A
NM_000548.5(TSC2):c.4493+6C>T rs1555514697
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.4494-10C>A rs753499012
NM_000548.5(TSC2):c.4494-10C>T rs753499012
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.4497C>G (p.Phe1499Leu) rs372974007
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4499T>C (p.Val1500Ala)
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly) rs45517347
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
NM_000548.5(TSC2):c.4504C>T (p.Leu1502=) rs928525608
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.4508A>G (p.Gln1503Arg) rs45516293
NM_000548.5(TSC2):c.4509G>A (p.Gln1503=) rs45517349
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.4512C>A (p.Leu1504=) rs771595886
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.4515C>T (p.Tyr1505=) rs45471791
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr) rs1173459869
NM_000548.5(TSC2):c.4516del (p.His1506fs) rs137854017
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter) rs137854199
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.5(TSC2):c.4524del (p.Phe1509fs) rs1567526941
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.4546A>G (p.Lys1516Glu)
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)
NM_000548.5(TSC2):c.4556T>C (p.Leu1519Pro) rs1555514956
NM_000548.5(TSC2):c.4562C>G (p.Pro1521Arg) rs1060500966
NM_000548.5(TSC2):c.4568del (p.Glu1523fs) rs137854411
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4569+1G>T rs1060500972
NM_000548.5(TSC2):c.4569+2T>A rs1555514984
NM_000548.5(TSC2):c.4569+2T>G rs1555514984
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+5G>A
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.4570-1G>A
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-5del
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.4571C>G (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4574A>G (p.Gln1525Arg)
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.4581T>A (p.Phe1527Leu)
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu) rs1567528487
NM_000548.5(TSC2):c.4591del (p.Val1531fs) rs137854282
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe) rs1567528528
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.45del (p.Phe15fs) rs397515020
NM_000548.5(TSC2):c.45dup (p.Lys16Ter) 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.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile) rs1215092245
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.4623C>T (p.Asp1541=) rs1555515315
NM_000548.5(TSC2):c.4627C>T (p.His1543Tyr) rs1567528890
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs) rs137854308
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4640T>A (p.Val1547Asp) rs397514988
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.4650T>C (p.Val1550=) rs1555515367
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.4662+7C>T rs1555515435
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.4663-1G>T 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.4663-3C>T rs397514930
NM_000548.5(TSC2):c.4663-43G>A rs45517359
NM_000548.5(TSC2):c.4663-5C>T rs1555515976
NM_000548.5(TSC2):c.4663A>T (p.Ser1555Cys) rs1555515982
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs) rs397515283
NM_000548.5(TSC2):c.4667A>G (p.Asn1556Ser) rs1567532307
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.4677C>T (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4678G>T (p.Ala1560Ser)
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.4696C>T (p.His1566Tyr)
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.4703C>G (p.Ser1568Cys) rs1555516036
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs) rs137854240
NM_000548.5(TSC2):c.4705T>C (p.Tyr1569His) rs1567532712
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>A (p.Arg1570Lys)
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr) rs397514980
NM_000548.5(TSC2):c.4710G>A (p.Arg1570=) rs1389060581
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn) rs397514905
NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His) 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.4718A>G (p.Glu1573Gly) rs1567532847
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.4728G>A (p.Thr1576=)
NM_000548.5(TSC2):c.472G>A (p.Glu158Lys)
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.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) rs137854203
NM_000548.5(TSC2):c.4752G>A (p.Leu1584=) rs1555516171
NM_000548.5(TSC2):c.4752del (p.Lys1585fs) rs397514937
NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) rs1567533189
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter) rs1555497714
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4764G>C (p.Gln1588His) rs876659800
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
NM_000548.5(TSC2):c.476A>T (p.Glu159Val) rs1555497716
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.4788C>T (p.Gly1596=)
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.4796_4797TG[2] (p.Cys1600fs) rs1567533467
NM_000548.5(TSC2):c.4799G>T (p.Cys1600Phe)
NM_000548.5(TSC2):c.479T>A (p.Leu160Gln) rs1555497725
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>C
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.4813_4827dup (p.Gln1605_Cys1609dup)
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.4822T>A (p.Tyr1608Asn) rs878854111
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.4827C>T (p.Cys1609=) rs1179490369
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>G (p.Ala161Gly)
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.4830_4837del (p.Trp1610_Asp1613delinsTer)
NM_000548.5(TSC2):c.4830del (p.Trp1610fs) rs137854230
NM_000548.5(TSC2):c.4831C>T (p.His1611Tyr)
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795
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+13G>A rs780953278
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+4C>A rs370426490
NM_000548.5(TSC2):c.4849+6_4849+27del
NM_000548.5(TSC2):c.4849+76G>A rs144647393
NM_000548.5(TSC2):c.4849+7C>T
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.4850C>G (p.Ala1617Gly) rs1412545821
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del) rs137854227
NM_000548.5(TSC2):c.4854C>G (p.Val1618=) rs45517378
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.4861A>T (p.Ile1621Phe) rs1555516628
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.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.4880C>A (p.Thr1627Asn) rs1555438434
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.488T>C (p.Phe163Ser)
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4896G>C (p.Lys1632Asn) rs1555438475
NM_000548.5(TSC2):c.4904G>A (p.Cys1635Tyr) rs1555438494
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.4909A>G (p.Lys1637Glu)
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.4914G>T (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551
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.4919A>G (p.His1640Arg) rs794727602
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.492C>T (p.Val164=) rs1424637610
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
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.4936G>A (p.Val1646Met) rs1064796970
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.4945G>A (p.Val1649Ile)
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.4951_4957del (p.Asn1651fs) rs1060500950
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>G (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val) rs1555438692
NM_000548.5(TSC2):c.4967A>G (p.Asp1656Gly) rs1567124767
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.4971del (p.Phe1657fs) rs137854181
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg) rs1050594534
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.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.4982C>A (p.Thr1661Asn) rs776541842
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.4989+6_4989+9del rs1262967003
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.4990-6G>A rs137853987
NM_000548.5(TSC2):c.4990-6G>T rs137853987
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.4990-7dup rs1555439636
NM_000548.5(TSC2):c.4990-9del rs1555439631
NM_000548.5(TSC2):c.4991_5020del (p.Gly1664_Thr1674delinsAla) rs1555439653
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4997T>C (p.Phe1666Ser)
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) rs1182240785
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) rs1555498118
NM_000548.5(TSC2):c.4del (p.Ala2fs) rs137854295
NM_000548.5(TSC2):c.5000A>G (p.Asn1667Ser) rs1237105821
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser) rs1555439678
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu) rs745787082
NM_000548.5(TSC2):c.5010C>A (p.His1670Gln)
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.5018_5042dup (p.Leu1682fs)
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro) rs45500595
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser) rs1555439727
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile) rs1555439727
NM_000548.5(TSC2):c.5022C>G (p.Thr1674=) rs777184691
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
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.5029G>A (p.Asp1677Asn) rs1163037065
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.5036A>C (p.Glu1679Ala) rs1389903110
NM_000548.5(TSC2):c.503T>C (p.Met168Thr) rs1555498124
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5049G>T (p.Val1683=) rs1256890176
NM_000548.5(TSC2):c.504G>T (p.Met168Ile) rs748692173
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro) rs45517387
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
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.5058G>C (p.Gln1686His) rs200700923
NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer) rs1555439847
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu) rs137854315
NM_000548.5(TSC2):c.5067_5068+8del rs1567128655
NM_000548.5(TSC2):c.5068+16dup rs397514896
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+1G>T
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+2T>G rs397515152
NM_000548.5(TSC2):c.5068+40G>A rs185211341
NM_000548.5(TSC2):c.5068+4G>C
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
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.5069-4C>T rs1555440004
NM_000548.5(TSC2):c.5069-5C>T rs762149472
NM_000548.5(TSC2):c.5069-6C>T rs1212112210
NM_000548.5(TSC2):c.5070C>A (p.Asp1690Glu)
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.5086G>T (p.Asp1696Tyr) rs1555440048
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr) rs1267700080
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.5106C>G (p.Ile1702Met) rs45483700
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
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.5115C>A (p.Asp1705Glu) rs1385591764
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
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.5119A>C (p.Asn1707His) rs1300582033
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