ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 1457
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) rs755799702 0.00003
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 0.00002
NM_000368.5(TSC1):c.47C>G (p.Ser16Cys) rs774900322 0.00002
NM_000368.5(TSC1):c.1000T>A (p.Ser334Thr) rs1845955815 0.00001
NM_000368.5(TSC1):c.1016C>T (p.Thr339Ile) rs1246013552 0.00001
NM_000368.5(TSC1):c.1045C>G (p.Pro349Ala) rs779767990 0.00001
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile) rs876658981 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1105C>A (p.Leu369Met) rs118203496 0.00001
NM_000368.5(TSC1):c.1130T>G (p.Phe377Cys) rs1187617751 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser) rs367564729 0.00001
NM_000368.5(TSC1):c.115C>T (p.Pro39Ser) rs1588359851 0.00001
NM_000368.5(TSC1):c.118A>G (p.Met40Val) rs974227401 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 0.00001
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp) rs1272450087 0.00001
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.1561T>C (p.Ser521Pro) rs1194627656 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) rs1419023919 0.00001
NM_000368.5(TSC1):c.1627C>T (p.Leu543Phe) rs1845641287 0.00001
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu) rs1588310178 0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) rs1845627444 0.00001
NM_000368.5(TSC1):c.1780G>A (p.Val594Met) rs1845623814 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1849C>T (p.His617Tyr) rs397514854 0.00001
NM_000368.5(TSC1):c.1997+4A>G rs1404828446 0.00001
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr) rs755647717 0.00001
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro) rs1588304748 0.00001
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln) rs986350787 0.00001
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) rs1403227945 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2519C>T (p.Ser840Leu) rs1564475110 0.00001
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys) rs1060503221 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp) rs118203361 0.00001
NM_000368.5(TSC1):c.2880G>A (p.Leu960=) rs1845126730 0.00001
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser) rs1438535722 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) rs1307630727 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461 0.00001
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu) rs1845079425 0.00001
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp) rs1034398735 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) rs1210523479 0.00001
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727 0.00001
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn) rs1845055163 0.00001
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) rs747053008 0.00001
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn) rs1845035929 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu) rs1207133391 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.364A>G (p.Met122Val) rs1846685026 0.00001
NM_000368.5(TSC1):c.380T>C (p.Val127Ala) rs1444696723 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.424A>G (p.Met142Val) rs1846677025 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.730C>A (p.Pro244Thr) rs1846543788 0.00001
NM_000368.5(TSC1):c.818A>G (p.Asp273Gly) rs768057796 0.00001
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) rs1588326742 0.00001
NM_000368.5(TSC1):c.913+5A>G rs1468819254 0.00001
NC_000009.11:g.(?_135771612)_(135778184_?)dup
NC_000009.11:g.(?_135771622)_(135801136_?)dup
NC_000009.11:g.(?_135771622)_(135804259_?)dup
NC_000009.11:g.(?_135771622)_(135810482_?)dup
NC_000009.11:g.(?_135796740)_(135820530_?)dup
NC_000009.11:g.(?_135797196)_(135820530_?)dup
NC_000009.11:g.(?_135798715)_(135804279_?)dup
NC_000009.11:g.(?_135804148)_(135804265_?)dup
NC_000009.11:g.(?_135810420)_(135820530_?)dup
NC_000009.11:g.(?_135819930)_(135820530_?)dup
NC_000009.11:g.(?_135820391)_(135821434_?)del
NC_000009.12:g.(?_132896235)_(132945143_?)dup
NC_000009.12:g.132944862_132944882dup
NM_000368.5(TSC1):c.1001C>G (p.Ser334Trp) rs118203481
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val) rs2131974315
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.5(TSC1):c.1028A>T (p.Gln343Leu)
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1029+4T>C rs772962741
NM_000368.5(TSC1):c.1029+5G>A rs1845952054
NM_000368.5(TSC1):c.1029+5G>T
NM_000368.5(TSC1):c.1029+6G>T rs1845951912
NM_000368.5(TSC1):c.1029A>G (p.Gln343=)
NM_000368.5(TSC1):c.1030-12T>C
NM_000368.5(TSC1):c.1030-14T>C
NM_000368.5(TSC1):c.1030-3C>G rs118203488
NM_000368.5(TSC1):c.1030-3C>T rs118203488
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.1030-6T>A rs1418175406
NM_000368.5(TSC1):c.1030-7T>C
NM_000368.5(TSC1):c.1030-9A>G rs118203487
NM_000368.5(TSC1):c.1030G>C (p.Ala344Pro) rs1845934367
NM_000368.5(TSC1):c.1030G>T (p.Ala344Ser) rs1845934367
NM_000368.5(TSC1):c.1031C>G (p.Ala344Gly) rs2131965142
NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile) rs1845934094
NM_000368.5(TSC1):c.1039T>A (p.Trp347Arg) rs1175861603
NM_000368.5(TSC1):c.1039T>C (p.Trp347Arg) rs1175861603
NM_000368.5(TSC1):c.1039T>G (p.Trp347Gly) rs1175861603
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) rs118203491
NM_000368.5(TSC1):c.1043G>T (p.Ser348Ile)
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
NM_000368.5(TSC1):c.1045C>T (p.Pro349Ser) rs779767990
NM_000368.5(TSC1):c.1046C>A (p.Pro349Gln) rs1554817268
NM_000368.5(TSC1):c.1052T>C (p.Met351Thr)
NM_000368.5(TSC1):c.1054G>C (p.Val352Leu)
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.5(TSC1):c.1058G>C (p.Cys353Ser) rs876660024
NM_000368.5(TSC1):c.105T>C (p.Ser35=) rs1588363213
NM_000368.5(TSC1):c.106+10A>G rs2132293220
NM_000368.5(TSC1):c.106+13_106+15del
NM_000368.5(TSC1):c.106+16T>C
NM_000368.5(TSC1):c.106+3T>C rs1847030488
NM_000368.5(TSC1):c.106+5G>A rs1554820973
NM_000368.5(TSC1):c.106+6C>T rs746774454
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.1065G>A (p.Met355Ile) rs878853958
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) rs1845931432
NM_000368.5(TSC1):c.106G>C (p.Asp36His) rs1847030850
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu) rs2131961651
NM_000368.5(TSC1):c.1078A>T (p.Thr360Ser) rs201738258
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>C (p.Asp36Ala)
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly) rs148468036
NM_000368.5(TSC1):c.107A>T (p.Asp36Val) rs148468036
NM_000368.5(TSC1):c.1082C>G (p.Ser361Cys)
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.5(TSC1):c.1085C>T (p.Pro362Leu) rs2131960830
NM_000368.5(TSC1):c.1088G>A (p.Gly363Glu) rs2131960613
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala) rs2131960121
NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr)
NM_000368.5(TSC1):c.1096C>T (p.Pro366Ser) rs1041988929
NM_000368.5(TSC1):c.1102G>A (p.Asp368Asn)
NM_000368.5(TSC1):c.1102G>C (p.Asp368His) rs2131959427
NM_000368.5(TSC1):c.1105C>G (p.Leu369Val) rs118203496
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.1120A>G (p.Ser374Gly) rs2131957774
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.5(TSC1):c.1125A>T (p.Lys375Asn) rs2131957415
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp) rs1588322703
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys) rs1846929239
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp)
NM_000368.5(TSC1):c.1136C>T (p.Thr379Ile) rs1060503193
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.5(TSC1):c.1139C>T (p.Thr380Ile) rs1064796512
NM_000368.5(TSC1):c.113_114delinsAT (p.Gly38Asp)
NM_000368.5(TSC1):c.1141+4T>C
NM_000368.5(TSC1):c.1141+5G>A rs1845924784
NM_000368.5(TSC1):c.1141+7A>C
NM_000368.5(TSC1):c.1142-10T>C
NM_000368.5(TSC1):c.1142C>G (p.Ala381Gly)
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) rs1460150475
NM_000368.5(TSC1):c.1148G>A (p.Gly383Glu) rs1554817166
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg) rs1845907002
NM_000368.5(TSC1):c.1153G>A (p.Gly385Arg) rs2131947237
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
NM_000368.5(TSC1):c.1157C>A (p.Thr386Asn) rs1845906487
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
NM_000368.5(TSC1):c.115C>G (p.Pro39Ala) rs1588359851
NM_000368.5(TSC1):c.1165G>A (p.Gly389Arg)
NM_000368.5(TSC1):c.116C>T (p.Pro39Leu)
NM_000368.5(TSC1):c.1177A>G (p.Thr393Ala)
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1178C>A (p.Thr393Asn) rs201452238
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup) rs1845904104
NM_000368.5(TSC1):c.1183C>G (p.Pro395Ala)
NM_000368.5(TSC1):c.1183C>T (p.Pro395Ser) rs1845904525
NM_000368.5(TSC1):c.1184C>T (p.Pro395Leu) rs1845904421
NM_000368.5(TSC1):c.1186C>A (p.Pro396Thr)
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1189C>G (p.Pro397Ala)
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser) rs1060503211
NM_000368.5(TSC1):c.1198C>G (p.Leu400Val)
NM_000368.5(TSC1):c.1198C>T (p.Leu400Phe) rs773160913
NM_000368.5(TSC1):c.11A>C (p.Gln4Pro)
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr) rs2131942881
NM_000368.5(TSC1):c.1206T>A (p.His402Gln) rs1845902050
NM_000368.5(TSC1):c.1207T>G (p.Ser403Ala) rs1845901815
NM_000368.5(TSC1):c.120G>A (p.Met40Ile) rs1480174819
NM_000368.5(TSC1):c.1210G>T (p.Asp404Tyr) rs1845900843
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.1215C>G (p.Asp405Glu) rs2131941639
NM_000368.5(TSC1):c.1216T>C (p.Tyr406His) rs1554817128
NM_000368.5(TSC1):c.1219G>T (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.1223A>C (p.His408Pro) rs1554817122
NM_000368.5(TSC1):c.1223A>G (p.His408Arg) rs1554817122
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1226T>C (p.Ile409Thr) rs1474143751
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu) rs1564487289
NM_000368.5(TSC1):c.1231C>G (p.Leu411Val) rs397514840
NM_000368.5(TSC1):c.1231C>T (p.Leu411Phe) rs397514840
NM_000368.5(TSC1):c.1232T>C (p.Leu411Pro)
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) rs1845897946
NM_000368.5(TSC1):c.1238A>C (p.Gln413Pro)
NM_000368.5(TSC1):c.1239G>C (p.Gln413His) rs786203715
NM_000368.5(TSC1):c.123T>A (p.Leu41=) rs1846926807
NM_000368.5(TSC1):c.1246G>T (p.Val416Phe)
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
NM_000368.5(TSC1):c.1252C>A (p.Pro418Thr) rs1845895299
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala) rs1845895299
NM_000368.5(TSC1):c.1252C>T (p.Pro418Ser) rs1845895299
NM_000368.5(TSC1):c.1253C>G (p.Pro418Arg) rs997339959
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
NM_000368.5(TSC1):c.1255C>T (p.Pro419Ser) rs765145057
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1258A>G (p.Arg420Gly) rs1554817078
NM_000368.5(TSC1):c.1260G>A (p.Arg420=)
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1264-16A>G rs2131883904
NM_000368.5(TSC1):c.1264-3C>A rs1194717065
NM_000368.5(TSC1):c.1264-3C>T rs1194717065
NM_000368.5(TSC1):c.1264-6T>A rs370778877
NM_000368.5(TSC1):c.1264G>A (p.Glu422Lys) rs1845729073
NM_000368.5(TSC1):c.1265A>G (p.Glu422Gly) rs2131883216
NM_000368.5(TSC1):c.1267G>A (p.Glu423Lys)
NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys)
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
NM_000368.5(TSC1):c.1275G>A (p.Met425Ile) rs2131882532
NM_000368.5(TSC1):c.1279T>G (p.Ser427Ala)
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1286G>C (p.Arg429Thr) rs1845727586
NM_000368.5(TSC1):c.1288C>A (p.Pro430Thr)
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu) rs1845727308
NM_000368.5(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro) rs1554816418
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1297C>A (p.His433Asn)
NM_000368.5(TSC1):c.1297C>T (p.His433Tyr)
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.1299C>G (p.His433Gln) rs1275474831
NM_000368.5(TSC1):c.12A>T (p.Gln4His)
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg) rs2131880323
NM_000368.5(TSC1):c.1305A>C (p.Gln435His) rs1334781311
NM_000368.5(TSC1):c.1306C>T (p.His436Tyr) rs1845725716
NM_000368.5(TSC1):c.1308C>A (p.His436Gln)
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.1311TCT[1] (p.Leu439del)
NM_000368.5(TSC1):c.1312C>T (p.Leu438Phe)
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser) rs2131879422
NM_000368.5(TSC1):c.1324A>G (p.Arg442Gly) rs1845724649
NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys)
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1330T>A (p.Ser444Thr)
NM_000368.5(TSC1):c.1333+6A>T
NM_000368.5(TSC1):c.1334-20T>G
NM_000368.5(TSC1):c.1334-3C>T rs766782582
NM_000368.5(TSC1):c.1334A>G (p.Glu445Gly) rs2131869266
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.133T>G (p.Leu45Val) rs755226092
NM_000368.5(TSC1):c.1342C>A (p.Pro448Thr) rs118203518
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1345G>A (p.Gly449Ser)
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1351A>C (p.Lys451Gln)
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) rs371093730
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe) rs1271797824
NM_000368.5(TSC1):c.1361T>C (p.Val454Ala) rs2131867114
NM_000368.5(TSC1):c.1364C>G (p.Thr455Ser)
NM_000368.5(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn) rs2131866202
NM_000368.5(TSC1):c.1372G>C (p.Asp458His) rs2131866030
NM_000368.5(TSC1):c.1374T>A (p.Asp458Glu) rs2131865879
NM_000368.5(TSC1):c.1376T>A (p.Leu459His) rs1554816231
NM_000368.5(TSC1):c.1381G>A (p.Gly461Arg)
NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser)
NM_000368.5(TSC1):c.1391G>A (p.Gly464Asp) rs1845696020
NM_000368.5(TSC1):c.13G>A (p.Ala5Thr) rs2132297148
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) rs1845695519
NM_000368.5(TSC1):c.1403C>T (p.Ser468Phe) rs1845695519
NM_000368.5(TSC1):c.1405G>A (p.Glu469Lys) rs2131863649
NM_000368.5(TSC1):c.1407AGA[1] (p.Glu470del) rs1564483296
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val) rs2131863099
NM_000368.5(TSC1):c.1414A>G (p.Ser472Gly)
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.5(TSC1):c.1418T>G (p.Ile473Ser)
NM_000368.5(TSC1):c.141T>G (p.Asp47Glu)
NM_000368.5(TSC1):c.1420G>C (p.Glu474Gln) rs2131862581
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg) rs2131862407
NM_000368.5(TSC1):c.1426G>A (p.Asp476Asn)
NM_000368.5(TSC1):c.1429A>G (p.Lys477Glu)
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1430AAG[2] (p.Glu479del) rs1233867963
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.5(TSC1):c.1438+5T>C rs1060503215
NM_000368.5(TSC1):c.1439-3C>T rs2131851362
NM_000368.5(TSC1):c.1439-6T>G rs1845661202
NM_000368.5(TSC1):c.1439-7C>A rs1588311354
NM_000368.5(TSC1):c.143A>G (p.Tyr48Cys)
NM_000368.5(TSC1):c.1442C>T (p.Ala481Val) rs775367219
NM_000368.5(TSC1):c.1445T>C (p.Ile482Thr)
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met) rs1845658834
NM_000368.5(TSC1):c.1448C>T (p.Ser483Phe) rs1588311235
NM_000368.5(TSC1):c.1451G>A (p.Arg484Lys)
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val) rs2131850010
NM_000368.5(TSC1):c.1459T>C (p.Ser487Pro)
NM_000368.5(TSC1):c.1460C>A (p.Ser487Tyr) rs118203532
NM_000368.5(TSC1):c.1464G>C (p.Glu488Asp)
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1469C>A (p.Thr490Asn)
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.146A>G (p.Tyr49Cys)
NM_000368.5(TSC1):c.146A>T (p.Tyr49Phe)
NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg)
NM_000368.5(TSC1):c.1472C>T (p.Thr491Ile) rs1554816070
NM_000368.5(TSC1):c.1475C>T (p.Ala492Val)
NM_000368.5(TSC1):c.1477G>C (p.Glu493Gln)
NM_000368.5(TSC1):c.1480G>A (p.Ala494Thr) rs1845656527
NM_000368.5(TSC1):c.1481C>G (p.Ala494Gly)
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys) rs1845656110
NM_000368.5(TSC1):c.1487C>T (p.Pro496Leu)
NM_000368.5(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.5(TSC1):c.148C>G (p.Leu50Val) rs2132268675
NM_000368.5(TSC1):c.1491_1493dup (p.Val498_Pro499insVal)
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
NM_000368.5(TSC1):c.1498C>A (p.Arg500=) rs118203537
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.5(TSC1):c.1514C>G (p.Ser505Cys) rs2131845783
NM_000368.5(TSC1):c.1516C>A (p.Pro506Thr) rs2131845533
NM_000368.5(TSC1):c.1517C>A (p.Pro506His) rs2131845442
NM_000368.5(TSC1):c.1522T>C (p.Tyr508His)
NM_000368.5(TSC1):c.1523A>G (p.Tyr508Cys) rs1845653443
NM_000368.5(TSC1):c.1526G>T (p.Arg509Leu)
NM_000368.5(TSC1):c.1531A>G (p.Ser511Gly)
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp) rs1564482313
NM_000368.5(TSC1):c.1546C>G (p.Gln516Glu)
NM_000368.5(TSC1):c.1558C>A (p.His520Asn)
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr) rs1845649293
NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp) rs759379027
NM_000368.5(TSC1):c.1565C>G (p.Ala522Gly) rs1845647948
NM_000368.5(TSC1):c.1565C>T (p.Ala522Val) rs1845647948
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) rs118203548
NM_000368.5(TSC1):c.1570T>G (p.Ser524Ala)
NM_000368.5(TSC1):c.1573A>C (p.Ser525Arg) rs1845647074
NM_000368.5(TSC1):c.1573A>G (p.Ser525Gly) rs1845647074
NM_000368.5(TSC1):c.1573A>T (p.Ser525Cys)
NM_000368.5(TSC1):c.1574G>A (p.Ser525Asn) rs750784794
NM_000368.5(TSC1):c.157A>G (p.Ser53Gly)
NM_000368.5(TSC1):c.1581G>C (p.Gln527His) rs1554815989
NM_000368.5(TSC1):c.1582G>A (p.Gly528Ser) rs1845645876
NM_000368.5(TSC1):c.1582G>T (p.Gly528Cys) rs1845645876
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) rs751125011
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val) rs1845645423
NM_000368.5(TSC1):c.1589G>A (p.Ser530Asn) rs368481360
NM_000368.5(TSC1):c.158G>A (p.Ser53Asn) rs1588359592
NM_000368.5(TSC1):c.1591G>T (p.Val531Leu) rs377279170
NM_000368.5(TSC1):c.1595A>G (p.Asn532Ser)
NM_000368.5(TSC1):c.1597C>G (p.Pro533Ala) rs1331420425
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.5(TSC1):c.1613C>G (p.Ser538Cys)
NM_000368.5(TSC1):c.1613C>T (p.Ser538Phe) rs1588310350
NM_000368.5(TSC1):c.1619T>C (p.Leu540Pro) rs1588310300
NM_000368.5(TSC1):c.1621G>A (p.Asp541Asn)
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu) rs1845641716
NM_000368.5(TSC1):c.1625A>G (p.Lys542Arg)
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1628T>G (p.Leu543Arg) rs1588310271
NM_000368.5(TSC1):c.1638C>A (p.Asp546Glu)
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
NM_000368.5(TSC1):c.1647G>T (p.Lys549Asn)
NM_000368.5(TSC1):c.1649A>T (p.Gln550Leu)
NM_000368.5(TSC1):c.1663A>G (p.Ile555Val) rs2131834436
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) rs1845637294
NM_000368.5(TSC1):c.1671_1672delinsTT (p.Pro558Ser)
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.5(TSC1):c.1677C>G (p.Cys559Trp)
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val) rs1395737285
NM_000368.5(TSC1):c.1681A>C (p.Ser561Arg) rs1845635382
NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly) rs1845635382
NM_000368.5(TSC1):c.1684G>A (p.Ala562Thr) rs1845635236
NM_000368.5(TSC1):c.1685C>T (p.Ala562Val) rs377185303
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) rs1554815931
NM_000368.5(TSC1):c.1691A>G (p.Glu564Gly)
NM_000368.5(TSC1):c.1703G>C (p.Gly568Ala) rs1845633233
NM_000368.5(TSC1):c.1703_1705del (p.Gly568del) rs1845632722
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly) rs1588309831
NM_000368.5(TSC1):c.1709G>C (p.Arg570Thr)
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
NM_000368.5(TSC1):c.1715G>C (p.Cys572Ser)
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) rs118203565
NM_000368.5(TSC1):c.1718A>C (p.Gln573Pro)
NM_000368.5(TSC1):c.1718A>G (p.Gln573Arg) rs2131829461
NM_000368.5(TSC1):c.1724C>A (p.Ser575Tyr) rs118203566
NM_000368.5(TSC1):c.1726T>G (p.Leu576Val)
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly) rs1845629411
NM_000368.5(TSC1):c.1738A>T (p.Ile580Phe)
NM_000368.5(TSC1):c.1744A>T (p.Thr582Ser) rs1564481573
NM_000368.5(TSC1):c.1747C>G (p.Pro583Ala) rs2131827202
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
NM_000368.5(TSC1):c.1748C>T (p.Pro583Leu) rs2131827057
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg) rs1845627777
NM_000368.5(TSC1):c.1753C>A (p.Pro585Thr)
NM_000368.5(TSC1):c.1757G>A (p.Cys586Tyr) rs1588309480
NM_000368.5(TSC1):c.1758T>G (p.Cys586Trp)
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser) rs902419565
NM_000368.5(TSC1):c.176A>C (p.His59Pro) rs757837986
NM_000368.5(TSC1):c.1775C>A (p.Thr592Lys)
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg) rs775869914
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1781T>C (p.Val594Ala)
NM_000368.5(TSC1):c.1781T>G (p.Val594Gly)
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys) rs2131824204
NM_000368.5(TSC1):c.1786T>C (p.Phe596Leu)
NM_000368.5(TSC1):c.1787T>G (p.Phe596Cys)
NM_000368.5(TSC1):c.1789G>A (p.Gly597Arg)
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu) rs1845622314
NM_000368.5(TSC1):c.1802C>A (p.Pro601His) rs543077026
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr) rs1588309106
NM_000368.5(TSC1):c.1804C>T (p.Pro602Ser)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln) rs751247705
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1813G>C (p.Asp605His) rs1588309025
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly) rs994264701
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu) rs2131821441
NM_000368.5(TSC1):c.1817A>C (p.His606Pro) rs1845620152
NM_000368.5(TSC1):c.1817A>G (p.His606Arg)
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.1820T>A (p.Leu607His)
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu) rs1845619679
NM_000368.5(TSC1):c.1824T>G (p.Phe608Leu)
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys) rs118203587
NM_000368.5(TSC1):c.1828G>A (p.Val610Met) rs1845619200
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala) rs1845619064
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly) rs1845619064
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser) rs2131819871
NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg)
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr) rs1845618225
NM_000368.5(TSC1):c.1847C>G (p.Ala616Gly)
NM_000368.5(TSC1):c.184A>G (p.Thr62Ala)
NM_000368.5(TSC1):c.1852C>A (p.His618Asn) rs1588308804
NM_000368.5(TSC1):c.1852C>G (p.His618Asp) rs1588308804
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr) rs1588308804
NM_000368.5(TSC1):c.1853A>G (p.His618Arg) rs2131818558
NM_000368.5(TSC1):c.1854T>G (p.His618Gln) rs2131818460
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn)
NM_000368.5(TSC1):c.1859T>C (p.Val620Ala)
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser) rs754401816
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys) rs397514815
NM_000368.5(TSC1):c.1876G>C (p.Glu626Gln)
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu) rs1158059433
NM_000368.5(TSC1):c.1889A>C (p.Lys630Thr)
NM_000368.5(TSC1):c.188C>T (p.Thr63Ile) rs1564503204
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr) rs1845613535
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.5(TSC1):c.1897G>C (p.Gly633Arg)
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser) rs2131814737
NM_000368.5(TSC1):c.1903A>C (p.Thr635Pro)
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln) rs1588308465
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp) rs1845611837
NM_000368.5(TSC1):c.1912G>A (p.Asp638Asn)
NM_000368.5(TSC1):c.1912G>T (p.Asp638Tyr)
NM_000368.5(TSC1):c.1914T>A (p.Asp638Glu)
NM_000368.5(TSC1):c.1918G>A (p.Val640Met) rs1845611376
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu) rs2131813212
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu) rs397514863
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe) rs1845610761
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe) rs1554820635
NM_000368.5(TSC1):c.1933C>T (p.Pro645Ser)
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys) rs1171512070
NM_000368.5(TSC1):c.1940A>T (p.Glu647Val)
NM_000368.5(TSC1):c.194A>C (p.Gln65Pro)
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys) rs75820036
NM_000368.5(TSC1):c.1961A>G (p.Gln654Arg)
NM_000368.5(TSC1):c.1962G>C (p.Gln654His) rs1845607280
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly) rs1845606482
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1978C>T (p.His660Tyr)
NM_000368.5(TSC1):c.1983C>T (p.Ser661=)
NM_000368.5(TSC1):c.1985A>C (p.Lys662Thr)
NM_000368.5(TSC1):c.1987_1988delinsTT (p.Glu663Leu)
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) rs1845605103
NM_000368.5(TSC1):c.1995C>A (p.Asn665Lys)
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) rs748733167
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu) rs1845604585
NM_000368.5(TSC1):c.1997+2dup
NM_000368.5(TSC1):c.1997+3A>C
NM_000368.5(TSC1):c.1997+3A>G rs1554815682
NM_000368.5(TSC1):c.1997+4del rs2131806631
NM_000368.5(TSC1):c.1997+5G>A rs1554815679
NM_000368.5(TSC1):c.1997+6G>A rs553762962
NM_000368.5(TSC1):c.1998-14A>G rs1845549826
NM_000368.5(TSC1):c.19G>A (p.Val7Ile)
NM_000368.5(TSC1):c.2000T>C (p.Leu667Ser)
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser) rs118203617
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly) rs1475481061
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg) rs1845545985
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys) rs774835995
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile) rs1845544758
NM_000368.5(TSC1):c.2021T>C (p.Val674Ala)
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly) rs1588305911
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2034C>G (p.His678Gln) rs201392975
NM_000368.5(TSC1):c.2040A>C (p.Gly680=) rs2131786060
NM_000368.5(TSC1):c.2041+5A>C
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2041+6G>A rs1845540881
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2045C>T (p.Ser682Phe)
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu) rs1413960643
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2052_2054del (p.Ser685del) rs2131774168
NM_000368.5(TSC1):c.2055A>G (p.Ser685=)
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2064C>G (p.Ile688Met)
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) rs200827913
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu) rs200827913
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) rs752473063
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile) rs1845509575
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly) rs1846914861
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2072T>A (p.Leu691His) rs876658244
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.5(TSC1):c.2072T>G (p.Leu691Arg)
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro) rs199755731
NM_000368.5(TSC1):c.2075G>T (p.Arg692Leu)
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr) rs397514800
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys) rs397514789
NM_000368.5(TSC1):c.2082G>T (p.Gln694His) rs2131771543
NM_000368.5(TSC1):c.2083T>G (p.Leu695Val)
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) rs1845506304
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe) rs1845506304
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr) rs1845505547
NM_000368.5(TSC1):c.2096A>G (p.His699Arg) rs1845505398
NM_000368.5(TSC1):c.2097C>A (p.His699Gln) rs1554815319
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser) rs1845504712
NM_000368.5(TSC1):c.210G>A (p.Lys70=) rs1060503219
NM_000368.5(TSC1):c.210G>C (p.Lys70Asn) rs1060503219
NM_000368.5(TSC1):c.211-18_211-10dup rs2132240395
NM_000368.5(TSC1):c.211-3C>A
NM_000368.5(TSC1):c.211-3C>T rs1564501920
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn) rs2131767728
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser) rs752054698
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser) rs1588304163
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) rs1588304163
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2117G>C (p.Arg706Pro) rs1588304158
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln) rs1845500801
NM_000368.5(TSC1):c.2126G>A (p.Arg709Lys)
NM_000368.5(TSC1):c.212A>G (p.His71Arg) rs1588355896
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys) rs118203647
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val) rs1286421874
NM_000368.5(TSC1):c.2141T>A (p.Leu714His) rs1438737976
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly) rs1564478519
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2144G>C (p.Arg715Pro)
NM_000368.5(TSC1):c.2146A>C (p.Asn716His) rs2131763292
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser) rs2131763158
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) rs1445358121
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2156T>C (p.Leu719Pro) rs2131761805
NM_000368.5(TSC1):c.2156TCC[1] (p.Leu720del)
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe) rs2131761582
NM_000368.5(TSC1):c.215T>A (p.Leu72His)
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly) rs763357144
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro) rs769566267
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu) rs769566267
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg) rs2131760538
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu) rs2131760345
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser) rs1845494587
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val) rs1564478337
NM_000368.5(TSC1):c.2192A>C (p.Glu731Ala)
NM_000368.5(TSC1):c.2196T>G (p.His732Gln)
NM_000368.5(TSC1):c.2197A>C (p.Asn733His)
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr) rs1564478277
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser) rs1564478277
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu) rs2131756215
NM_000368.5(TSC1):c.2208+12_2208+29del
NM_000368.5(TSC1):c.2209-10T>G rs2131742414
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu) rs1588302128
NM_000368.5(TSC1):c.220G>A (p.Asp74Asn) rs2132238980
NM_000368.5(TSC1):c.220G>C (p.Asp74His)
NM_000368.5(TSC1):c.2210A>T (p.Lys737Ile)
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val) rs1350928783
NM_000368.5(TSC1):c.2215C>G (p.Gln739Glu)
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly) rs1846821741
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr) rs1588302047
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser) rs1060503201
NM_000368.5(TSC1):c.222C>G (p.Asp74Glu)
NM_000368.5(TSC1):c.2231A>G (p.Glu744Gly)
NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val) rs1564477496
NM_000368.5(TSC1):c.2244G>C (p.Gln748His) rs1588301930
NM_000368.5(TSC1):c.2247G>T (p.Met749Ile)
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln) rs1845453569
NM_000368.5(TSC1):c.2252A>G (p.Lys751Arg)
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn) rs1845453410
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) rs765643529
NM_000368.5(TSC1):c.2254G>C (p.Val752Leu)
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln) rs1057519319
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val) rs1845452248
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val) rs1554815021
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys) rs1554815010
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu) rs118203671
NM_000368.5(TSC1):c.2290C>T (p.Leu764Phe)
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.229A>G (p.Asn77Asp) rs2132238313
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro) rs1845449144
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg) rs1845449144
NM_000368.5(TSC1):c.2301G>T (p.Gln767His) rs1845448996
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2311A>G (p.Met771Val) rs1057522203
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile) rs1468880078
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
NM_000368.5(TSC1):c.2314G>T (p.Val772Leu)
NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala)
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His) rs1060503202
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr) rs2131733177
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
NM_000368.5(TSC1):c.2327A>G (p.His776Arg)
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln) rs1588355838
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.5(TSC1):c.2332C>A (p.Gln778Lys)
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu) rs1845445850
NM_000368.5(TSC1):c.2335A>C (p.Ile779Leu)
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val) rs1845445721
NM_000368.5(TSC1):c.2337C>G (p.Ile779Met)
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2344C>G (p.Leu782Val)
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln) rs1845444954
NM_000368.5(TSC1):c.2350C>T (p.His784Tyr)
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly) rs2131730508
NM_000368.5(TSC1):c.2357G>T (p.Arg786Leu)
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.5(TSC1):c.235T>C (p.Tyr79His) rs1846820628
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.5(TSC1):c.2364A>T (p.Glu788Asp)
NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys) rs373855276
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn) rs2131728548
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.5(TSC1):c.238G>A (p.Val80Met) rs1588355807
NM_000368.5(TSC1):c.2390A>G (p.Gln797Arg)
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu) rs2131727903
NM_000368.5(TSC1):c.2391+1G>A rs1060503224
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
NM_000368.5(TSC1):c.2392-10C>G rs2131711171
NM_000368.5(TSC1):c.2392-15C>G
NM_000368.5(TSC1):c.2392-1G>C
NM_000368.5(TSC1):c.2392-3C>T rs561093328
NM_000368.5(TSC1):c.2392-6G>A
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
NM_000368.5(TSC1):c.23G>A (p.Gly8Glu) rs1269896419
NM_000368.5(TSC1):c.23G>T (p.Gly8Val) rs1269896419
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) rs1845380748
NM_000368.5(TSC1):c.2416A>G (p.Met806Val) rs1845380611
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr) rs2131708510
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val) rs2131708365
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys) rs118203692
NM_000368.5(TSC1):c.2429T>G (p.Leu810Arg)
NM_000368.5(TSC1):c.2435T>C (p.Ile812Thr)
NM_000368.5(TSC1):c.2436A>G (p.Ile812Met)
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly) rs1554814657
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del) rs1564476060
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) rs1588299170
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn) rs1845377926
NM_000368.5(TSC1):c.2446_2447delinsGC (p.Lys816Ala)
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val) rs1845377267
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del) rs1588299112
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp)
NM_000368.5(TSC1):c.2454C>A (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2455A>G (p.Asn819Asp)
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu) rs1845376841
NM_000368.5(TSC1):c.2461G>A (p.Val821Met) rs1845376276
NM_000368.5(TSC1):c.2461G>C (p.Val821Leu)
NM_000368.5(TSC1):c.2461_2463del (p.Val821del)
NM_000368.5(TSC1):c.2467C>G (p.His823Asp)
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn) rs1845375284
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro) rs1845374191
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn) rs1202468122
NM_000368.5(TSC1):c.248C>A (p.Ala83Asp) rs1588355749
NM_000368.5(TSC1):c.248C>T (p.Ala83Val) rs1588355749
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile) rs773279842
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu)
NM_000368.5(TSC1):c.24G>T (p.Gly8=) rs2132296659
NM_000368.5(TSC1):c.2502+1G>T
NM_000368.5(TSC1):c.2503-14T>G
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro) rs1845336311
NM_000368.5(TSC1):c.2506T>G (p.Ser836Ala)
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly) rs1845335475
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn) rs1060503208
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr) rs1060503208
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys) rs2131689008
NM_000368.5(TSC1):c.253A>G (p.Thr85Ala) rs2132236558
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys) rs1554814418
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys) rs1554814418
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys) rs1060503195
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu) rs1588297391
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro) rs1845331236
NM_000368.5(TSC1):c.2565T>A (p.Leu855=) rs1845331038
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser) rs2131686192
NM_000368.5(TSC1):c.257G>A (p.Arg86His) rs1846818019
NM_000368.5(TSC1):c.25G>A (p.Glu9Lys)
NM_000368.5(TSC1):c.2604C>G (p.Asn868Lys)
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg) rs1588297197
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn) rs1845327520
NM_000368.5(TSC1):c.2609A>G (p.His870Arg) rs1845327392
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu) rs1166302175
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2618C>A (p.Thr873Asn)
NM_000368.5(TSC1):c.2618C>T (p.Thr873Ile)
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile) rs2131684508
NM_000368.5(TSC1):c.2625+1G>T
NM_000368.5(TSC1):c.2625+357_2625+372del rs1845301667
NM_000368.5(TSC1):c.2625+3A>G rs1845325976
NM_000368.5(TSC1):c.2625+4T>A rs1588297117
NM_000368.5(TSC1):c.2625+4T>G rs1588297117
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn) rs777437357
NM_000368.5(TSC1):c.2626-3_2626-2insTTT rs760737807
NM_000368.5(TSC1):c.2626-5T>G rs1444272064
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile) rs1321117036
NM_000368.5(TSC1):c.2629G>C (p.Val877Leu)
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala) rs1564472328
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu) rs778416424
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2639T>C (p.Met880Thr)
NM_000368.5(TSC1):c.263C>G (p.Ser88Cys) rs1588355606
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr) rs1271658593
NM_000368.5(TSC1):c.2645C>G (p.Ala882Gly)
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val) rs1554813594
NM_000368.5(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
NM_000368.5(TSC1):c.2667A>C (p.Glu889Asp)
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu) rs543892243
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr) rs1564501791
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2674A>G (p.Arg892Gly)
NM_000368.5(TSC1):c.267C>G (p.Ile89Met) rs1846816338
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) rs1845148693
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
NM_000368.5(TSC1):c.2684T>C (p.Val895Ala) rs1845148114
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe) rs377132822
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe) rs2132235523
NM_000368.5(TSC1):c.2691G>T (p.Gln897His) rs372915963
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys) rs118203728
NM_000368.5(TSC1):c.2695A>T (p.Thr899Ser)
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu) rs397514871
NM_000368.5(TSC1):c.269T>C (p.Leu90Pro)
NM_000368.5(TSC1):c.2700G>C (p.Gln900His) rs560986491
NM_000368.5(TSC1):c.2702G>A (p.Arg901Lys)
NM_000368.5(TSC1):c.2709T>A (p.Asp903Glu)
NM_000368.5(TSC1):c.270_272dup (p.Ser91_Leu92insSer)
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn) rs1564471932
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile) rs1564471932
NM_000368.5(TSC1):c.2718A>G (p.Gln906=) rs1845144230
NM_000368.5(TSC1):c.271T>G (p.Ser91Ala) rs2132235320
NM_000368.5(TSC1):c.2720A>C (p.Lys907Thr)
NM_000368.5(TSC1):c.2730G>A (p.Leu910=) rs1845142584
NM_000368.5(TSC1):c.2732A>C (p.Glu911Ala)
NM_000368.5(TSC1):c.2741C>A (p.Ser914Tyr)
NM_000368.5(TSC1):c.2741C>T (p.Ser914Phe)
NM_000368.5(TSC1):c.2743C>T (p.His915Tyr)
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr) rs757025842
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg) rs757025842
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu) rs1319954878
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr) rs1324456435
NM_000368.5(TSC1):c.2761C>A (p.His921Asn) rs1588290485
NM_000368.5(TSC1):c.2761C>T (p.His921Tyr)
NM_000368.5(TSC1):c.2762A>G (p.His921Arg) rs1845140377
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe) rs1011595359
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro) rs2131632108
NM_000368.5(TSC1):c.276A>C (p.Leu92Phe) rs1846814862
NM_000368.5(TSC1):c.2770T>G (p.Leu924Val)
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val) rs2131631775
NM_000368.5(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.5(TSC1):c.277_278inv (p.Leu93Arg)
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn) rs118203733
NM_000368.5(TSC1):c.2788C>G (p.Leu930Val)
NM_000368.5(TSC1):c.278T>C (p.Leu93Pro) rs118203363
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln) rs1845137395
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala) rs1845137259
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn) rs2131630999
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.2797G>A (p.Val933Ile)
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe) rs1845136906
NM_000368.5(TSC1):c.279G>A (p.Leu93=)
NM_000368.5(TSC1):c.2802A>T (p.Lys934Asn)
NM_000368.5(TSC1):c.2803C>G (p.Leu935Val)
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg) rs2131630651
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2809G>A (p.Ala937Thr) rs1845136006
NM_000368.5(TSC1):c.2812A>C (p.Arg938=) rs1207111375
NM_000368.5(TSC1):c.2813+6T>C rs1845135110
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2814-12T>C
NM_000368.5(TSC1):c.2814-16G>A
NM_000368.5(TSC1):c.2814-4T>C
NM_000368.5(TSC1):c.2814-7C>G
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser) rs1439157444
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2816G>A (p.Gly939Glu)
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro) rs1845131755
NM_000368.5(TSC1):c.281G>A (p.Gly94Asp) rs2132234443
NM_000368.5(TSC1):c.281G>T (p.Gly94Val)
NM_000368.5(TSC1):c.2824C>G (p.Gln942Glu)
NM_000368.5(TSC1):c.2828C>T (p.Ala943Val)
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly) rs1060503225
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys) rs1060503225
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) rs1845130264
NM_000368.5(TSC1):c.2837G>C (p.Ser946Thr)
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly) rs1845130132
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser) rs1417111404
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe) rs989183765
NM_000368.5(TSC1):c.2848G>A (p.Ala950Thr)
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser) rs1845129427
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
NM_000368.5(TSC1):c.2860A>G (p.Ile954Val)
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys) rs1845129125
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn) rs1564471610
NM_000368.5(TSC1):c.2864C>T (p.Thr955Ile)
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu) rs1212768461
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
NM_000368.5(TSC1):c.286G>A (p.Val96Ile)
NM_000368.5(TSC1):c.286G>C (p.Val96Leu) rs987344953
NM_000368.5(TSC1):c.2881G>A (p.Glu961Lys)
NM_000368.5(TSC1):c.2881G>C (p.Glu961Gln)
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp) rs2131626309
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu) rs1227198324
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) rs1227198324
NM_000368.5(TSC1):c.2885T>A (p.Ile962Asn) rs1438535722
NM_000368.5(TSC1):c.2885T>C (p.Ile962Thr)
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser) rs2131626118
NM_000368.5(TSC1):c.2889A>G (p.Leu963=)
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) rs1033463168
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe) rs750886491
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)
NM_000368.5(TSC1):c.28C>A (p.Leu10Ile) rs1399717425
NM_000368.5(TSC1):c.2903G>A (p.Arg968Lys)
NM_000368.5(TSC1):c.2908G>A (p.Glu970Lys)
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly) rs1372477238
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn) rs1845122540
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly) rs2131625009
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg) rs2131624756
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly) rs2132233857
NM_000368.5(TSC1):c.2931del (p.Lys977fs) rs1845120600
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile) rs397514859
NM_000368.5(TSC1):c.2932C>T (p.Leu978Phe)
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) rs770834438
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del) rs1233796412
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly) rs2131623978
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr) rs1845117262
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser) rs1845117262
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly) rs2131623702
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2953G>A (p.Ala985Thr) rs1554813242
NM_000368.5(TSC1):c.2954C>T (p.Ala985Val)
NM_000368.5(TSC1):c.2958_2959insCTCCCTCTCCCTCTCCCTCTCCCACGGCCGCGGGCACCCCCCGCACACCGCCACACACCCACCCAAACCCCCAACAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCAGAAGCAGCT (p.Glu987fs)
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3]) rs2131622960
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly) rs867884507
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val) rs1239372124
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.5(TSC1):c.2970A>C (p.Glu990Asp)
NM_000368.5(TSC1):c.2972A>G (p.Glu991Gly)
NM_000368.5(TSC1):c.2974del (p.Arg992fs) rs1554813210
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2975+3A>G rs2131622699
NM_000368.5(TSC1):c.2975+5G>T
NM_000368.5(TSC1):c.2976-13G>A
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser) rs1453837305
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe) rs1177810382
NM_000368.5(TSC1):c.2980G>C (p.Asp994His) rs78868727
NM_000368.5(TSC1):c.2983T>C (p.Cys995Arg)
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
NM_000368.5(TSC1):c.2993A>T (p.Asp998Val)
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg) rs780224196
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.2999G>A (p.Cys1000Tyr) rs1845088618
NM_000368.5(TSC1):c.2999G>T (p.Cys1000Phe)
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn) rs1588288289
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu) rs371879917
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile) rs1588288220
NM_000368.5(TSC1):c.3020A>G (p.His1007Arg)
NM_000368.5(TSC1):c.3021C>A (p.His1007Gln)
NM_000368.5(TSC1):c.3026A>G (p.Glu1009Gly)
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro) rs764979889
NM_000368.5(TSC1):c.3035C>T (p.Ser1012Phe)
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg) rs2131613922
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln) rs1394343524
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys) rs759047948
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys) rs1020905743
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.5(TSC1):c.3049G>C (p.Glu1017Gln)
NM_000368.5(TSC1):c.304T>A (p.Ser102Thr) rs796053453
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly) rs922638686
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg) rs2131612809
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala) rs1588287982
NM_000368.5(TSC1):c.3059C>A (p.Thr1020Asn)
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser) rs1845082934
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg) rs1845082733
NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys)
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3074G>C (p.Ser1025Thr)
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser) rs533565295
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe) rs1588287842
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly)
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp) rs1845080410
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del) rs1588287797
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys) rs2131610745
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys) rs1588287783
NM_000368.5(TSC1):c.308G>T (p.Trp103Leu) rs118203364
NM_000368.5(TSC1):c.3090T>A (p.Ser1030Arg)
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser) rs1015742388
NM_000368.5(TSC1):c.3099A>T (p.Arg1033Ser)
NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg)
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val) rs1034398735
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys) rs2131609182
NM_000368.5(TSC1):c.3109_3111dup (p.Gly1037dup) rs2131608962
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile) rs1060503196
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg) rs1588287598
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly) rs1060503204
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly) rs1845075552
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3128G>A (p.Ser1043Asn)
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
NM_000368.5(TSC1):c.3130G>C (p.Glu1044Gln)
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His) rs2131606944
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe) rs1845071202
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser) rs587778726
NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser)
NM_000368.5(TSC1):c.3143C>G (p.Pro1048Arg)
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly) rs2131606041
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.5(TSC1):c.314A>C (p.His105Pro) rs758924121
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
NM_000368.5(TSC1):c.3160C>T (p.Gln1054Ter)
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg) rs1588287238
NM_000368.5(TSC1):c.316A>G (p.Lys106Glu)
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3173del (p.Pro1058fs)
NM_000368.5(TSC1):c.3176T>G (p.Phe1059Cys)
NM_000368.5(TSC1):c.317A>G (p.Lys106Arg) rs1846812083
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg) rs1845063816
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys) rs1845063569
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
NM_000368.5(TSC1):c.3192G>T (p.Glu1064Asp)
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
NM_000368.5(TSC1):c.3199A>C (p.Met1067Leu)
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val) rs2131602062
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs) rs2131602023
NM_000368.5(TSC1):c.319C>T (p.Leu107Phe)
NM_000368.5(TSC1):c.31C>T (p.Leu11Phe)
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) rs1167362899
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val) rs1554812780
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe) rs2131601255
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr) rs1845060154
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser) rs1845060154
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr)
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser) rs1845058768
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro) rs1845058224
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser) rs2131600316
NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala)
NM_000368.5(TSC1):c.322T>C (p.Ser108Pro) rs1178072536
NM_000368.5(TSC1):c.3235G>A (p.Gly1079Ser)
NM_000368.5(TSC1):c.3239C>T (p.Ser1080Leu)
NM_000368.5(TSC1):c.323C>G (p.Ser108Cys) rs1846811712
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.325C>G (p.Gln109Glu) rs397514774
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr) rs2131598234
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg) rs1845053005
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp) rs762845573
NM_000368.5(TSC1):c.3269T>C (p.Met1090Thr)
NM_000368.5(TSC1):c.326A>G (p.Gln109Arg) rs1846811126
NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro) rs1846810976
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly) rs1845051123
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) rs1431256375
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro) rs550526986
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln) rs1845049905
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly) rs1588286774
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val) rs1588286774
NM_000368.5(TSC1):c.3282G>T (p.Glu1094Asp)
NM_000368.5(TSC1):c.3283_3284delinsAG (p.Leu1095Arg)
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu) rs118203750
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His) rs1845048359
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3298A>T (p.Ser1100Cys) rs1845047652
NM_000368.5(TSC1):c.329C>T (p.Ala110Val) rs1588355332
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3304A>T (p.Ser1102Cys)
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg) rs1564469848
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3316G>A (p.Glu1106Lys) rs2131594768
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu) rs118203752
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val) rs1845043842
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile) rs1845043593
NM_000368.5(TSC1):c.3328A>C (p.Thr1110Pro)
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile)
NM_000368.5(TSC1):c.3331A>G (p.Ser1111Gly)
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.5(TSC1):c.3335G>A (p.Ser1112Asn)
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile) rs1449696743
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro) rs1845042308
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe) rs2131593288
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp) rs751467429
NM_000368.5(TSC1):c.3347G>C (p.Ser1116Thr)
NM_000368.5(TSC1):c.3348C>A (p.Ser1116Arg)
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
NM_000368.5(TSC1):c.3358_3359del (p.Glu1120fs)
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs) rs1845040133
NM_000368.5(TSC1):c.335T>A (p.Leu112His) rs2132231093
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val) rs769478982
NM_000368.5(TSC1):c.3365G>A (p.Gly1122Asp)
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs) rs878853967
NM_000368.5(TSC1):c.3372C>G (p.Asp1124Glu)
NM_000368.5(TSC1):c.3373T>A (p.Leu1125Met)
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs) rs1845038227
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met) rs1845037495
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) rs1845037495
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
NM_000368.5(TSC1):c.3390G>T (p.Lys1130Asn)
NM_000368.5(TSC1):c.3394C>G (p.Pro1132Ala)
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu) rs1564469655
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His) rs1554812610
NM_000368.5(TSC1):c.3404T>A (p.Leu1135Gln)
NM_000368.5(TSC1):c.3406G>A (p.Asp1136Asn)
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly) rs1588286218
NM_000368.5(TSC1):c.340C>G (p.Pro114Ala)
NM_000368.5(TSC1):c.3410G>A (p.Gly1137Asp)
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val) rs1845032228
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.3418C>T (p.Pro1140Ser) rs2131588755
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del) rs1846809072
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys) rs1344689860
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.5(TSC1):c.3428C>G (p.Pro1143Arg)
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile) rs1845027394
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn) rs397514806
NM_000368.5(TSC1):c.3436del (p.Asp1146fs) rs1588285924
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
NM_000368.5(TSC1):c.343T>A (p.Ser115Thr) rs2132230552
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile) rs1554812551
NM_000368.5(TSC1):c.3444del (p.Gly1149fs) rs1845025560
NM_000368.5(TSC1):c.3445G>A (p.Gly1149Arg)
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter) rs2131586779
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln) rs2131586553
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr) rs1845025129
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val) rs1845024693
NM_000368.5(TSC1):c.3458T>C (p.Ile1153Thr)
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val) rs1845024278
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly) rs2131585776
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser) rs1845023976
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile) rs2131585551
NM_000368.5(TSC1):c.3478CAT[1] (p.His1161del)
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser) rs2132230247
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln) rs1588285797
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn) rs2131585043
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) rs1554820265
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.358C>A (p.Leu120Ile) rs1554820263
NM_000368.5(TSC1):c.358C>T (p.Leu120Phe)
NM_000368.5(TSC1):c.35C>T (p.Ala12Val) rs1588363595
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln) rs1846807332
NM_000368.5(TSC1):c.363+3A>G rs1588355128
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.363+5_363+8del rs1846805825
NM_000368.5(TSC1):c.363+6A>T rs2132228938
NM_000368.5(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.5(TSC1):c.366G>A (p.Met122Ile)
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
NM_000368.5(TSC1):c.370A>T (p.Thr124Ser) rs745871522
NM_000368.5(TSC1):c.375C>A (p.Asp125Glu) rs560863078
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
NM_000368.5(TSC1):c.37A>G (p.Met13Val) rs768147590
NM_000368.5(TSC1):c.383T>C (p.Val128Ala) rs1588350850
NM_000368.5(TSC1):c.384_401del (p.Leu129_Leu134del) rs1588350733
NM_000368.5(TSC1):c.385C>A (p.Leu129Ile)
NM_000368.5(TSC1):c.385C>G (p.Leu129Val) rs1060503198
NM_000368.5(TSC1):c.385C>T (p.Leu129Phe) rs1060503198
NM_000368.5(TSC1):c.391A>T (p.Thr131Ser) rs1564499857
NM_000368.5(TSC1):c.392C>T (p.Thr131Ile)
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.5(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) rs2132296041
NM_000368.5(TSC1):c.403G>A (p.Val135Met) rs1588350708
NM_000368.5(TSC1):c.403G>C (p.Val135Leu) rs1588350708
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
NM_000368.5(TSC1):c.408G>T (p.Leu136Phe)
NM_000368.5(TSC1):c.412A>G (p.Thr138Ala) rs1846678617
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile) rs1163879822
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro) rs1588350642
NM_000368.5(TSC1):c.421C>G (p.Pro141Ala) rs1846677371
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.430C>G (p.Pro144Ala) rs2132190386
NM_000368.5(TSC1):c.431C>A (p.Pro144Gln) rs1846676674
NM_000368.5(TSC1):c.434A>C (p.Gln145Pro)
NM_000368.5(TSC1):c.434A>G (p.Gln145Arg) rs2132190023
NM_000368.5(TSC1):c.436T>C (p.Ser146Pro)
NM_000368.5(TSC1):c.439G>A (p.Gly147Arg)
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.43G>T (p.Asp15Tyr)
NM_000368.5(TSC1):c.440G>C (p.Gly147Ala) rs1846675803
NM_000368.5(TSC1):c.448C>T (p.His150Tyr) rs1060503206
NM_000368.5(TSC1):c.449A>G (p.His150Arg)
NM_000368.5(TSC1):c.44_58del (p.Asp15_Leu19del) rs1847036151
NM_000368.5(TSC1):c.452T>G (p.Leu151Arg) rs2132189225
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.5(TSC1):c.462C>G (p.Phe154Leu)
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.470T>C (p.Ile157Thr) rs2132188270
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) rs1846672854
NM_000368.5(TSC1):c.476G>A (p.Gly159Asp) rs2132187882
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.5(TSC1):c.479G>C (p.Arg160Pro)
NM_000368.5(TSC1):c.47C>A (p.Ser16Tyr)
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.482T>A (p.Leu161Gln)
NM_000368.5(TSC1):c.484T>C (p.Ser162Pro) rs1060503205
NM_000368.5(TSC1):c.484_498del (p.Ser162_Leu166del)
NM_000368.5(TSC1):c.488C>T (p.Ser163Leu)
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.492G>C (p.Trp164Cys) rs1554819870
NM_000368.5(TSC1):c.495C>G (p.Cys165Trp)
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
NM_000368.5(TSC1):c.497T>C (p.Leu166Pro)
NM_000368.5(TSC1):c.4G>A (p.Ala2Thr)
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg) rs1007335343
NM_000368.5(TSC1):c.506C>A (p.Pro169Gln)
NM_000368.5(TSC1):c.507A>G (p.Pro169=) rs1846669296
NM_000368.5(TSC1):c.508+5A>G
NM_000368.5(TSC1):c.508+6G>A rs1846668717
NM_000368.5(TSC1):c.508+6G>C rs1846668717
NM_000368.5(TSC1):c.509-10C>A rs780670013
NM_000368.5(TSC1):c.509-15G>A rs118203391
NM_000368.5(TSC1):c.509-17A>G
NM_000368.5(TSC1):c.509-5T>G rs1846593189
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.5(TSC1):c.521A>G (p.Glu174Gly) rs1588347661
NM_000368.5(TSC1):c.523G>T (p.Val175Phe) rs1564498330
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe) rs2132160788
NM_000368.5(TSC1):c.52A>G (p.Met18Val)
NM_000368.5(TSC1):c.52A>T (p.Met18Leu)
NM_000368.5(TSC1):c.532G>T (p.Val178Phe)
NM_000368.5(TSC1):c.533T>G (p.Val178Gly)
NM_000368.5(TSC1):c.535C>T (p.His179Tyr) rs1846589515
NM_000368.5(TSC1):c.541C>A (p.His181Asn)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.543T>A (p.His181Gln) rs762139762
NM_000368.5(TSC1):c.544G>A (p.Ala182Thr) rs2132159449
NM_000368.5(TSC1):c.545C>T (p.Ala182Val)
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.5(TSC1):c.550G>A (p.Val184Met)
NM_000368.5(TSC1):c.551T>C (p.Val184Ala)
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro)
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser) rs1279777367
NM_000368.5(TSC1):c.557C>T (p.Ala186Val)
NM_000368.5(TSC1):c.559C>G (p.Leu187Val) rs2132158182
NM_000368.5(TSC1):c.559C>T (p.Leu187Phe) rs2132158182
NM_000368.5(TSC1):c.560T>A (p.Leu187His) rs2132158100
NM_000368.5(TSC1):c.566A>T (p.His189Leu) rs2132157644
NM_000368.5(TSC1):c.568C>A (p.Arg190Ser)
NM_000368.5(TSC1):c.571C>A (p.Leu191Ile) rs1846585825
NM_000368.5(TSC1):c.571C>T (p.Leu191Phe)
NM_000368.5(TSC1):c.579A>T (p.Gly193=) rs1846584403
NM_000368.5(TSC1):c.580A>C (p.Met194Leu) rs1588347278
NM_000368.5(TSC1):c.581T>C (p.Met194Thr) rs746188529
NM_000368.5(TSC1):c.581T>G (p.Met194Arg) rs746188529
NM_000368.5(TSC1):c.587C>T (p.Pro196Leu)
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser) rs2132295199
NM_000368.5(TSC1):c.58G>C (p.Gly20Arg) rs2132295199
NM_000368.5(TSC1):c.597C>G (p.Phe199Leu) rs202242304
NM_000368.5(TSC1):c.598G>T (p.Val200Phe) rs118203410
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp) rs2132295150
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) rs1588363746
NM_000368.5(TSC1):c.602C>T (p.Ser201Phe) rs1564498038
NM_000368.5(TSC1):c.607T>G (p.Leu203Val)
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.5(TSC1):c.611G>T (p.Arg204Leu)
NM_000368.5(TSC1):c.617A>G (p.His206Arg) rs1846579352
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
NM_000368.5(TSC1):c.625A>C (p.Met209Leu)
NM_000368.5(TSC1):c.625A>T (p.Met209Leu) rs754980229
NM_000368.5(TSC1):c.637C>G (p.Leu213Val) rs999904570
NM_000368.5(TSC1):c.638T>C (p.Leu213Pro)
NM_000368.5(TSC1):c.640G>A (p.Glu214Lys) rs1846577095
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp) rs904190788
NM_000368.5(TSC1):c.643A>G (p.Thr215Ala) rs2132150727
NM_000368.5(TSC1):c.649G>C (p.Glu217Gln) rs2132150199
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
NM_000368.5(TSC1):c.659T>G (p.Val220Gly)
NM_000368.5(TSC1):c.65G>C (p.Arg22Pro) rs141736779
NM_000368.5(TSC1):c.660_663+2del
NM_000368.5(TSC1):c.661A>G (p.Lys221Glu)
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664-10A>G rs1588345946
NM_000368.5(TSC1):c.664-14C>G
NM_000368.5(TSC1):c.664-6T>C rs1588345922
NM_000368.5(TSC1):c.664C>G (p.Pro222Ala)
NM_000368.5(TSC1):c.667A>G (p.Met223Val) rs2132138226
NM_000368.5(TSC1):c.671T>A (p.Met224Lys) rs118203426
NM_000368.5(TSC1):c.671T>C (p.Met224Thr) rs118203426
NM_000368.5(TSC1):c.676C>G (p.His226Asp) rs2132137589
NM_000368.5(TSC1):c.676C>T (p.His226Tyr) rs2132137589
NM_000368.5(TSC1):c.678T>A (p.His226Gln) rs2132137496
NM_000368.5(TSC1):c.678T>G (p.His226Gln)
NM_000368.5(TSC1):c.679G>A (p.Val227Met)
NM_000368.5(TSC1):c.679G>C (p.Val227Leu) rs1846548148
NM_000368.5(TSC1):c.680T>A (p.Val227Glu) rs1264542706
NM_000368.5(TSC1):c.689A>G (p.His230Arg) rs1588345775
NM_000368.5(TSC1):c.68A>G (p.Asp23Gly) rs1847034874
NM_000368.5(TSC1):c.692C>G (p.Pro231Arg) rs1322586198
NM_000368.5(TSC1):c.694G>A (p.Glu232Lys) rs118203429
NM_000368.5(TSC1):c.694G>C (p.Glu232Gln)
NM_000368.5(TSC1):c.704C>T (p.Thr235Ile)
NM_000368.5(TSC1):c.708A>G (p.Gly236=) rs2132135313
NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr)
NM_000368.5(TSC1):c.710C>T (p.Ser237Phe)
NM_000368.5(TSC1):c.713A>G (p.Lys238Arg) rs2132134825
NM_000368.5(TSC1):c.716A>G (p.Asp239Gly)
NM_000368.5(TSC1):c.722A>G (p.Glu241Gly)
NM_000368.5(TSC1):c.725T>C (p.Leu242Pro) rs1554819388
NM_000368.5(TSC1):c.731C>T (p.Pro244Leu) rs2132133357
NM_000368.5(TSC1):c.734G>C (p.Arg245Pro) rs755859330
NM_000368.5(TSC1):c.737+4T>C rs1487527846
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.5(TSC1):c.74T>G (p.Val25Gly)
NM_000368.5(TSC1):c.752A>G (p.Glu251Gly)
NM_000368.5(TSC1):c.755C>T (p.Thr252Ile) rs1232152905
NM_000368.5(TSC1):c.759T>A (p.His253Gln) rs748775797
NM_000368.5(TSC1):c.760G>A (p.Asp254Asn)
NM_000368.5(TSC1):c.761A>G (p.Asp254Gly) rs1846018773
NM_000368.5(TSC1):c.762T>A (p.Asp254Glu) rs780005416
NM_000368.5(TSC1):c.771C>G (p.Ile257Met) rs1060504854
NM_000368.5(TSC1):c.775T>C (p.Cys259Arg) rs1191767597
NM_000368.5(TSC1):c.776G>A (p.Cys259Tyr) rs1459280532
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) rs758617649
NM_000368.5(TSC1):c.790C>G (p.Leu264Val)
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.5(TSC1):c.79G>C (p.Ala27Pro) rs1847033606
NM_000368.5(TSC1):c.805G>A (p.Ala269Thr)
NM_000368.5(TSC1):c.808T>G (p.Ser270Ala)
NM_000368.5(TSC1):c.811T>C (p.Tyr271His)
NM_000368.5(TSC1):c.821G>C (p.Gly274Ala)
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys) rs1554817636
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) rs1846012269
NM_000368.5(TSC1):c.82G>C (p.Val28Leu) rs1588363318
NM_000368.5(TSC1):c.837C>A (p.His279Gln)
NM_000368.5(TSC1):c.838C>G (p.Gln280Glu) rs118203458
NM_000368.5(TSC1):c.840A>C (p.Gln280His) rs1171852730
NM_000368.5(TSC1):c.841A>C (p.Ile281Leu) rs2131999104
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) rs118203459
NM_000368.5(TSC1):c.848C>T (p.Ala283Val) rs1554817613
NM_000368.5(TSC1):c.850C>A (p.Arg284Ser) rs140544652
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) rs151309813
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.862C>G (p.Arg288Gly) rs770653972
NM_000368.5(TSC1):c.863G>C (p.Arg288Pro)
NM_000368.5(TSC1):c.869C>T (p.Ala290Val) rs1846007897
NM_000368.5(TSC1):c.874G>A (p.Val292Ile) rs1588326825
NM_000368.5(TSC1):c.877A>G (p.Thr293Ala) rs2131996111
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) rs756681916
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.880A>T (p.Thr294Ser) rs1588326742
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile) rs878853969
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly) rs1588326679
NM_000368.5(TSC1):c.883A>T (p.Ser295Cys) rs1588326679
NM_000368.5(TSC1):c.884G>T (p.Ser295Ile)
NM_000368.5(TSC1):c.885C>G (p.Ser295Arg) rs973115696
NM_000368.5(TSC1):c.887C>T (p.Pro296Leu) rs1846005037
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.895G>A (p.Asp299Asn)
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.910T>A (p.Tyr304Asn) rs1588326467
NM_000368.5(TSC1):c.911A>G (p.Tyr304Cys)
NM_000368.5(TSC1):c.913+18T>C
NM_000368.5(TSC1):c.913+3A>G rs1846002381
NM_000368.5(TSC1):c.913+4A>C rs1178304676
NM_000368.5(TSC1):c.914-3T>C rs781756453
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg) rs34876281
NM_000368.5(TSC1):c.917G>T (p.Cys306Phe)
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln) rs1847032440
NM_000368.5(TSC1):c.922A>G (p.Thr308Ala) rs1845965349
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.929C>T (p.Thr310Ile) rs1588324860
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
NM_000368.5(TSC1):c.931C>T (p.Pro311Ser)
NM_000368.5(TSC1):c.932C>A (p.Pro311His) rs776158460
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu) rs776158460
NM_000368.5(TSC1):c.934T>C (p.Tyr312His) rs1845964220
NM_000368.5(TSC1):c.935A>C (p.Tyr312Ser) rs1588324803
NM_000368.5(TSC1):c.935A>G (p.Tyr312Cys) rs1588324803
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.5(TSC1):c.940A>G (p.Thr314Ala) rs1845963270
NM_000368.5(TSC1):c.941C>G (p.Thr314Arg)
NM_000368.5(TSC1):c.947G>T (p.Arg316Leu) rs375956049
NM_000368.5(TSC1):c.949C>A (p.Leu317Met) rs1588324686
NM_000368.5(TSC1):c.952A>T (p.Met318Leu) rs1392501159
NM_000368.5(TSC1):c.955T>G (p.Leu319Val) rs1845961614
NM_000368.5(TSC1):c.957G>C (p.Leu319Phe)
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421
NM_000368.5(TSC1):c.962A>C (p.Asn321Thr)
NM_000368.5(TSC1):c.963T>A (p.Asn321Lys)
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.5(TSC1):c.979C>T (p.Pro327Ser)
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.980C>T (p.Pro327Leu)
NM_000368.5(TSC1):c.986C>T (p.Thr329Ile)
NM_000368.5(TSC1):c.988C>A (p.Leu330Met) rs1060503222
NM_000368.5(TSC1):c.989T>G (p.Leu330Arg) rs1588324325
NM_000368.5(TSC1):c.992G>A (p.Ser331Asn) rs2131976184
NM_000368.5(TSC1):c.993T>A (p.Ser331Arg) rs1588324306
NM_000368.5(TSC1):c.995C>T (p.Ser332Phe) rs2131975937
NM_001162426.2(TSC1):c.2623-4_2623-3insTG rs2131640739

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