ClinVar Miner

List of variants in gene TSC1

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Gene type:
ClinVar version:
Total variants: 1730
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HGVS dbSNP
GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1
NC_000009.11:g.(?_135771602)_(135779861_?)del
NC_000009.11:g.(?_135771602)_(135804279_?)del
NC_000009.11:g.(?_135771612)_(135778184_?)dup
NC_000009.11:g.(?_135771612)_(135820530_?)dup
NC_000009.11:g.(?_135771616)_(135804265_?)del
NC_000009.11:g.(?_135771622)_(135804259_?)dup
NC_000009.11:g.(?_135776102)_(135787844_?)dup
NC_000009.11:g.(?_135785938)_(135787864_?)del
NC_000009.11:g.(?_135785948)_(135820530_?)dup
NC_000009.11:g.(?_135798715)_(135804279_?)dup
NC_000009.11:g.(?_135804148)_(135804265_?)dup
NC_000009.11:g.(?_135819930)_(135820530_?)dup
NC_000009.12:g.132904406del
NM_000368.4(TSC1):c.*1000A>G rs886063610
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*106A>G rs886063620
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1089G>A rs886063609
NM_000368.4(TSC1):c.*1275T>G rs2809244
NM_000368.4(TSC1):c.*1322C>T rs2809243
NM_000368.4(TSC1):c.*1332C>T rs397514841
NM_000368.4(TSC1):c.*1372T>G rs58612431
NM_000368.4(TSC1):c.*1396T>C rs397514790
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*1488C>T rs739442
NM_000368.4(TSC1):c.*14A>T rs200574927
NM_000368.4(TSC1):c.*1507G>A rs739441
NM_000368.4(TSC1):c.*1508A>G rs552190342
NM_000368.4(TSC1):c.*1519C>T rs886063608
NM_000368.4(TSC1):c.*1519delC rs886063607
NM_000368.4(TSC1):c.*1541dupT rs748099884
NM_000368.4(TSC1):c.*1612C>A rs886063605
NM_000368.4(TSC1):c.*1680G>A rs532372427
NM_000368.4(TSC1):c.*1785A>G rs74362385
NM_000368.4(TSC1):c.*1861G>A rs561511694
NM_000368.4(TSC1):c.*1902T>G rs142038787
NM_000368.4(TSC1):c.*1934A>G rs10491534
NM_000368.4(TSC1):c.*1969T>C rs886063604
NM_000368.4(TSC1):c.*1970G>A rs886063603
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2022G>T rs568052856
NM_000368.4(TSC1):c.*2094G>A rs534649062
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2142T>C rs112314368
NM_000368.4(TSC1):c.*2168C>T rs532469694
NM_000368.4(TSC1):c.*2213C>A rs539030496
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2230A>G rs397514781
NM_000368.4(TSC1):c.*2364T>A rs886063602
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2439C>A rs886063601
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2475C>A rs886063600
NM_000368.4(TSC1):c.*2558A>G rs115516164
NM_000368.4(TSC1):c.*2576T>C rs886063599
NM_000368.4(TSC1):c.*2615C>A rs886063598
NM_000368.4(TSC1):c.*2632A>G rs886063597
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2641G>T rs397514827
NM_000368.4(TSC1):c.*2644G>T rs886063596
NM_000368.4(TSC1):c.*2647C>T rs886063595
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2658G>T rs886063594
NM_000368.4(TSC1):c.*2679T>C rs886063593
NM_000368.4(TSC1):c.*2691A>T rs886063592
NM_000368.4(TSC1):c.*2708G>C rs150433809
NM_000368.4(TSC1):c.*2733A>G rs73552805
NM_000368.4(TSC1):c.*279T>G rs554637460
NM_000368.4(TSC1):c.*2829A>G rs886063591
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893delA rs143549363
NM_000368.4(TSC1):c.*2893dupA rs143549363
NM_000368.4(TSC1):c.*2897A>G rs886063589
NM_000368.4(TSC1):c.*289delT rs11323835
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*2949A>T rs886063588
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*298A>G rs886063619
NM_000368.4(TSC1):c.*3047C>A rs886063587
NM_000368.4(TSC1):c.*3063A>T rs886063586
NM_000368.4(TSC1):c.*3238T>C rs886063585
NM_000368.4(TSC1):c.*3239G>T rs886063584
NM_000368.4(TSC1):c.*3240G>T rs886063583
NM_000368.4(TSC1):c.*3248_*3250delCAG rs886063582
NM_000368.4(TSC1):c.*3258G>C rs397514877
NM_000368.4(TSC1):c.*3260G>C rs397514782
NM_000368.4(TSC1):c.*3284C>A rs886063581
NM_000368.4(TSC1):c.*3285G>T rs886063580
NM_000368.4(TSC1):c.*3330G>T rs553475307
NM_000368.4(TSC1):c.*333C>A rs886063618
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3531G>T rs886063579
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*3543C>A rs886063578
NM_000368.4(TSC1):c.*3565C>T rs771494783
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*361C>T rs397514844
NM_000368.4(TSC1):c.*3658G>A rs886063577
NM_000368.4(TSC1):c.*3679G>A rs1050700
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3737C>A rs886063576
NM_000368.4(TSC1):c.*376C>T rs114064768
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3924G>T rs886063575
NM_000368.4(TSC1):c.*3935C>T rs397514787
NM_000368.4(TSC1):c.*3936C>T rs397514853
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3987A>G rs886063574
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*3997G>A rs148982924
NM_000368.4(TSC1):c.*4057G>A rs17149898
NM_000368.4(TSC1):c.*405A>G rs560193480
NM_000368.4(TSC1):c.*4072G>A rs886063573
NM_000368.4(TSC1):c.*4128G>A rs886063572
NM_000368.4(TSC1):c.*4159G>T rs886063571
NM_000368.4(TSC1):c.*4167C>A rs886063570
NM_000368.4(TSC1):c.*4193A>C rs886063569
NM_000368.4(TSC1):c.*4233G>T rs886063568
NM_000368.4(TSC1):c.*4248C>A rs886063567
NM_000368.4(TSC1):c.*4248C>T rs886063567
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4356C>T rs886063566
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4437G>A rs11553763
NM_000368.4(TSC1):c.*4447C>T rs112968492
NM_000368.4(TSC1):c.*448G>A rs886063617
NM_000368.4(TSC1):c.*4515G>A rs886063565
NM_000368.4(TSC1):c.*4591G>T rs397514821
NM_000368.4(TSC1):c.*4622G>A rs886063564
NM_000368.4(TSC1):c.*4631delT rs60000611
NM_000368.4(TSC1):c.*4631dupT rs60000611
NM_000368.4(TSC1):c.*4763T>C rs79470094
NM_000368.4(TSC1):c.*4826A>C rs886063563
NM_000368.4(TSC1):c.*4845G>T rs886063562
NM_000368.4(TSC1):c.*4898G>A rs79220715
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*548C>A rs886063616
NM_000368.4(TSC1):c.*583C>A rs886063615
NM_000368.4(TSC1):c.*60T>G rs577329896
NM_000368.4(TSC1):c.*651C>G rs369911288
NM_000368.4(TSC1):c.*677G>C rs189890583
NM_000368.4(TSC1):c.*682C>T rs75252898
NM_000368.4(TSC1):c.*817G>T rs886063614
NM_000368.4(TSC1):c.*824C>T rs886063613
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*859G>T rs886063612
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*920C>A rs886063611
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-11C>T rs570705364
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-144+17C>T rs1554823324
NM_000368.4(TSC1):c.-144+7A>T rs563924788
NM_000368.4(TSC1):c.-144+9G>C rs1356563066
NM_000368.4(TSC1):c.-144G>A rs796053468
NM_000368.4(TSC1):c.-156G>A
NM_000368.4(TSC1):c.-159G>A rs530965070
NM_000368.4(TSC1):c.-166A>G rs886063626
NM_000368.4(TSC1):c.-16G>A rs114970627
NM_000368.4(TSC1):c.-174A>T rs886063627
NM_000368.4(TSC1):c.-17C>T rs768441689
NM_000368.4(TSC1):c.-20C>T rs377001111
NM_000368.4(TSC1):c.-214C>T rs886063628
NM_000368.4(TSC1):c.-227G>A rs886063629
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-33C>T rs796053446
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-36C>T rs772626361
NM_000368.4(TSC1):c.-44G>A rs773447503
NM_000368.4(TSC1):c.-68C>T rs529212875
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-80-10T>C rs886063625
NM_000368.4(TSC1):c.-80-2A>G rs587778003
NM_000368.4(TSC1):c.-80-5C>T rs1057523300
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1007_1016del (p.Arg336fs) rs397514849
NM_000368.4(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.4(TSC1):c.1016C>T (p.Thr339Ile) rs1246013552
NM_000368.4(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.4(TSC1):c.1020A>G (p.Glu340=) rs760233114
NM_000368.4(TSC1):c.1020del (p.Glu340fs) rs118203484
NM_000368.4(TSC1):c.1022C>T (p.Pro341Leu)
NM_000368.4(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.4(TSC1):c.1029+1G>A rs118203485
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000368.4(TSC1):c.1029+34C>G rs587778002
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1029+8G>A rs1036865129
NM_000368.4(TSC1):c.1030-14T>A rs180810228
NM_000368.4(TSC1):c.1030-1G>A rs118203489
NM_000368.4(TSC1):c.1030-3C>G rs118203488
NM_000368.4(TSC1):c.1030-5C>G
NM_000368.4(TSC1):c.1030-9A>G rs118203487
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.1039T>A (p.Trp347Arg)
NM_000368.4(TSC1):c.1039T>C (p.Trp347Arg) rs1175861603
NM_000368.4(TSC1):c.1040G>A (p.Trp347Ter) rs118203490
NM_000368.4(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.4(TSC1):c.1041G>C (p.Trp347Cys)
NM_000368.4(TSC1):c.1046C>A (p.Pro349Gln) rs1554817268
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1050T>C (p.Ser350=) rs150777389
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.4(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.4(TSC1):c.105T>C (p.Ser35=)
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.106+2T>C rs1554820976
NM_000368.4(TSC1):c.106+47A>C rs373390352
NM_000368.4(TSC1):c.106+5G>A rs1554820973
NM_000368.4(TSC1):c.106+6C>T
NM_000368.4(TSC1):c.106+9A>G rs1554820969
NM_000368.4(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.4(TSC1):c.1065G>A (p.Met355Ile) rs878853958
NM_000368.4(TSC1):c.107-1G>A rs1064793494
NM_000368.4(TSC1):c.107-2A>G rs118203332
NM_000368.4(TSC1):c.1073del (p.Pro358fs) rs1554817259
NM_000368.4(TSC1):c.1078A>G (p.Thr360Ala) rs201738258
NM_000368.4(TSC1):c.1078A>T (p.Thr360Ser) rs201738258
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.4(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.4(TSC1):c.1091A>T (p.Asn364Ile) rs876658981
NM_000368.4(TSC1):c.1096C>G (p.Pro366Ala) rs1041988929
NM_000368.4(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.4(TSC1):c.1097C>T (p.Pro366Leu) rs763915012
NM_000368.4(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051
NM_000368.4(TSC1):c.109C>A (p.Arg37Ser)
NM_000368.4(TSC1):c.109C>T (p.Arg37Cys) rs1309560054
NM_000368.4(TSC1):c.109dup (p.Arg37fs) rs118203333
NM_000368.4(TSC1):c.10C>T (p.Gln4Ter)
NM_000368.4(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.4(TSC1):c.1105C>A (p.Leu369Met) rs118203496
NM_000368.4(TSC1):c.1105C>T (p.Leu369=) rs118203496
NM_000368.4(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.4(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1110A>T (p.Ser370=) rs371648887
NM_000368.4(TSC1):c.1110_1111AC[3] (p.Pro372fs) rs118203498
NM_000368.4(TSC1):c.1110dup (p.His371fs) rs118203497
NM_000368.4(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1118dup (p.Tyr373Ter) rs118203499
NM_000368.4(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer)
NM_000368.4(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.4(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.4(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.4(TSC1):c.1130T>G (p.Phe377Cys) rs1187617751
NM_000368.4(TSC1):c.1130_1131del (p.Phe377fs) rs1554817222
NM_000368.4(TSC1):c.1136C>T (p.Thr379Ile) rs1060503193
NM_000368.4(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
NM_000368.4(TSC1):c.1139C>T (p.Thr380Ile) rs1064796512
NM_000368.4(TSC1):c.1141+10T>C rs367601694
NM_000368.4(TSC1):c.1141+1G>T rs397514819
NM_000368.4(TSC1):c.1142-33A>G rs6597586
NM_000368.4(TSC1):c.1142-9G>A rs1554817169
NM_000368.4(TSC1):c.1144G>A (p.Gly382Ser) rs367564729
NM_000368.4(TSC1):c.1148G>A (p.Gly383Glu) rs1554817166
NM_000368.4(TSC1):c.114C>G (p.Gly38=) rs776158461
NM_000368.4(TSC1):c.1152A>G (p.Lys384=) rs1554817165
NM_000368.4(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.4(TSC1):c.1157del (p.Thr386fs) rs1554817164
NM_000368.4(TSC1):c.115C>G (p.Pro39Ala)
NM_000368.4(TSC1):c.1160_1161CT[1] (p.Leu388fs) rs1064793844
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1165G>T (p.Gly389Ter) rs886041524
NM_000368.4(TSC1):c.1166del (p.Gly389fs) rs397514832
NM_000368.4(TSC1):c.1167A>C (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.116C>G (p.Pro39Arg)
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1190C>T (p.Pro397Leu)
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.4(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.4(TSC1):c.1196_1209del (p.Pro399fs) rs118203502
NM_000368.4(TSC1):c.1198_1199CT[1] (p.Cys401fs) rs1554817140
NM_000368.4(TSC1):c.1200C>G (p.Leu400=) rs767514820
NM_000368.4(TSC1):c.1203del (p.His402fs) rs118203503
NM_000368.4(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>A (p.Ser403=) rs141184479
NM_000368.4(TSC1):c.1209G>T (p.Ser403=)
NM_000368.4(TSC1):c.120G>A (p.Met40Ile)
NM_000368.4(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.4(TSC1):c.1216T>C (p.Tyr406His) rs1554817128
NM_000368.4(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.1219G>C (p.Val407Leu)
NM_000368.4(TSC1):c.1219G>T (p.Val407Leu)
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.121C>T (p.Leu41Phe) rs118203334
NM_000368.4(TSC1):c.1223A>G (p.His408Arg) rs1554817122
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1231C>T (p.Leu411Phe) rs397514840
NM_000368.4(TSC1):c.1232T>A (p.Leu411His)
NM_000368.4(TSC1):c.1237C>G (p.Gln413Glu)
NM_000368.4(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218
NM_000368.4(TSC1):c.1239G>A (p.Gln413=) rs786203715
NM_000368.4(TSC1):c.1248C>T (p.Val416=) rs777823426
NM_000368.4(TSC1):c.1249del (p.Thr417fs) rs397514792
NM_000368.4(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.4(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.4(TSC1):c.1253C>A (p.Pro418His) rs997339959
NM_000368.4(TSC1):c.1253C>G (p.Pro418Arg)
NM_000368.4(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.4(TSC1):c.1256C>G (p.Pro419Arg) rs878853959
NM_000368.4(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.4(TSC1):c.1258A>G (p.Arg420Gly) rs1554817078
NM_000368.4(TSC1):c.1263+106G>A
NM_000368.4(TSC1):c.1263+15G>A rs765809001
NM_000368.4(TSC1):c.1263+4C>T rs1554817077
NM_000368.4(TSC1):c.1263+5G>A
NM_000368.4(TSC1):c.1263+6_1263+8dupATC rs751182565
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1263+9C>T rs761837376
NM_000368.4(TSC1):c.1264-12T>C rs118203508
NM_000368.4(TSC1):c.1264-1G>A rs1554816432
NM_000368.4(TSC1):c.1264-6T>A rs370778877
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs) rs118203509
NM_000368.4(TSC1):c.1273A>G (p.Met425Val) rs753199284
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835
NM_000368.4(TSC1):c.1279del (p.Ser427fs) rs118203510
NM_000368.4(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.4(TSC1):c.1283C>T (p.Ala428Val) rs1554816420
NM_000368.4(TSC1):c.1289_1290insGCGCGGACC (p.Cys431_Leu432insArgGlyPro) rs1554816418
NM_000368.4(TSC1):c.1291T>C (p.Cys431Arg)
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.4(TSC1):c.1301dup (p.Gln435fs) rs1554816394
NM_000368.4(TSC1):c.1302A>G (p.Arg434=) rs907840461
NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter) rs118203511
NM_000368.4(TSC1):c.1305A>G (p.Gln435=) rs1334781311
NM_000368.4(TSC1):c.130A>G (p.Thr44Ala) rs1399266964
NM_000368.4(TSC1):c.130dup (p.Thr44fs) rs118203336
NM_000368.4(TSC1):c.1315C>G (p.Leu439Val) rs199800297
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.131_132dup (p.Leu45fs) rs118203337
NM_000368.4(TSC1):c.1324_1325AG[1] (p.Gly443fs) rs1064795285
NM_000368.4(TSC1):c.1328G>T (p.Gly443Val) rs1489175329
NM_000368.4(TSC1):c.132dup (p.Val46fs) rs118203337
NM_000368.4(TSC1):c.1331C>A (p.Ser444Ter) rs118203512
NM_000368.4(TSC1):c.1331C>G (p.Ser444Ter) rs118203512
NM_000368.4(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1333+13C>T rs118203516
NM_000368.4(TSC1):c.1333+14G>A rs371733518
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1333+6delA rs1060503212
NM_000368.4(TSC1):c.1333+9T>A rs747629498
NM_000368.4(TSC1):c.1333dupG rs118203514
NM_000368.4(TSC1):c.1334-174T>C
NM_000368.4(TSC1):c.1334-55C>G rs7872606
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.4(TSC1):c.1338del (p.Glu446fs) rs118203517
NM_000368.4(TSC1):c.1339C>G (p.Pro447Ala)
NM_000368.4(TSC1):c.133T>C (p.Leu45=) rs755226092
NM_000368.4(TSC1):c.1340C>T (p.Pro447Leu)
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.4(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1344T>G (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.4(TSC1):c.1354G>C (p.Gly452Arg) rs118203519
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1361_1398del (p.Val454fs) rs118203520
NM_000368.4(TSC1):c.1364_1365CT[1] (p.Leu456fs) rs397514798
NM_000368.4(TSC1):c.1364del (p.Thr455fs) rs118203521
NM_000368.4(TSC1):c.1366_1367insGA (p.Leu456fs) rs118203522
NM_000368.4(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.4(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.4(TSC1):c.1371T>C (p.Ser457=) rs118203524
NM_000368.4(TSC1):c.1376T>A (p.Leu459His) rs1554816231
NM_000368.4(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.4(TSC1):c.1388del (p.Phe462_Leu463insTer) rs1064796237
NM_000368.4(TSC1):c.1388dup (p.Leu463fs) rs1064796237
NM_000368.4(TSC1):c.1407_1409AGA[1] (p.Glu470del) rs1564483296
NM_000368.4(TSC1):c.1411_1412insT (p.Asp471fs) rs118203526
NM_000368.4(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.4(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.4(TSC1):c.1418T>C (p.Ile473Thr)
NM_000368.4(TSC1):c.1429_1431del (p.Lys477del) rs796053469
NM_000368.4(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.4(TSC1):c.1430_1432AAG[2] (p.Glu479del) rs1233867963
NM_000368.4(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.4(TSC1):c.1431dup (p.Glu478fs) rs397514858
NM_000368.4(TSC1):c.1432_1433dup (p.Glu479fs) rs118203528
NM_000368.4(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.4(TSC1):c.1438+5T>C rs1060503215
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-10T>A rs1060504852
NM_000368.4(TSC1):c.1439-13C>T rs1554816089
NM_000368.4(TSC1):c.1439-1G>A rs397514804
NM_000368.4(TSC1):c.1439-20_1439-9delGTTTCCTCTCTT rs1064792996
NM_000368.4(TSC1):c.1439-25C>A rs397514813
NM_000368.4(TSC1):c.1439-2A>G rs118203531
NM_000368.4(TSC1):c.1439-2A>T rs118203531
NM_000368.4(TSC1):c.1439-37C>T rs10901220
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1441del (p.Ala481fs) rs796053466
NM_000368.4(TSC1):c.1442C>T (p.Ala481Val) rs775367219
NM_000368.4(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) rs1064793693
NM_000368.4(TSC1):c.1444_1445AT[1] (p.Ile482_Ser483insTer) rs1554816076
NM_000368.4(TSC1):c.1448C>T (p.Ser483Phe)
NM_000368.4(TSC1):c.1452del (p.Glu485fs) rs397514797
NM_000368.4(TSC1):c.1453G>T (p.Glu485Ter) rs1564482622
NM_000368.4(TSC1):c.145del (p.Tyr49fs) rs118203339
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1462G>T (p.Glu488Ter) rs118203533
NM_000368.4(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.4(TSC1):c.1467_1469CAC[1] (p.Thr491del) rs1554816071
NM_000368.4(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.4(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.4(TSC1):c.1470del (p.Thr491fs) rs118203534
NM_000368.4(TSC1):c.1472C>T (p.Thr491Ile) rs1554816070
NM_000368.4(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.4(TSC1):c.1481dup (p.Glu495fs) rs118203535
NM_000368.4(TSC1):c.1488_1489TG[1] (p.Val497fs) rs118203536
NM_000368.4(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.4(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.4(TSC1):c.148del (p.Leu50fs) rs118203340
NM_000368.4(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.4(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.4(TSC1):c.1501G>T (p.Gly501Ter) rs118203539
NM_000368.4(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.4(TSC1):c.1503del (p.Gly502fs) rs397514876
NM_000368.4(TSC1):c.1506C>T (p.Gly502=) rs772337076
NM_000368.4(TSC1):c.1509dup (p.Asp504Ter) rs796053470
NM_000368.4(TSC1):c.1513_1514TC[3] (p.Pro506fs) rs281875358
NM_000368.4(TSC1):c.1515dup (p.Pro506fs) rs118203540
NM_000368.4(TSC1):c.1518del (p.Tyr508fs) rs1060503210
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1528G>A (p.Asp510Asn) rs779206386
NM_000368.4(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.4(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.4(TSC1):c.1533_1534TC[1] (p.Leu512fs) rs397514823
NM_000368.4(TSC1):c.1533del (p.Leu512fs) rs118203545
NM_000368.4(TSC1):c.1533dup (p.Leu512fs) rs1554816029
NM_000368.4(TSC1):c.1539A>G (p.Pro513=) rs755055358
NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1541G>A (p.Gly514Asp) rs1564482313
NM_000368.4(TSC1):c.1541_1549delinsTG (p.Gly514fs) rs1564482288
NM_000368.4(TSC1):c.1542_1543insG (p.Ser515fs) rs118203546
NM_000368.4(TSC1):c.1546C>T (p.Gln516Ter)
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1559del (p.His520fs) rs118203547
NM_000368.4(TSC1):c.1562C>G (p.Ser521Trp)
NM_000368.4(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733
NM_000368.4(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.4(TSC1):c.1577C>T (p.Ser526Phe) rs1554815996
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.4(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.4(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.1589G>A (p.Ser530Asn) rs368481360
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.158G>A (p.Ser53Asn)
NM_000368.4(TSC1):c.1591G>A (p.Val531Met)
NM_000368.4(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.4(TSC1):c.1596C>T (p.Asn532=) rs759461471
NM_000368.4(TSC1):c.159C>T (p.Ser53=) rs756335238
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.4(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.4(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.4(TSC1):c.1613C>T (p.Ser538Phe)
NM_000368.4(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.4(TSC1):c.1615del (p.Ser539fs) rs118203551
NM_000368.4(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.4(TSC1):c.1619T>C (p.Leu540Pro)
NM_000368.4(TSC1):c.1626G>A (p.Lys542=) rs756935981
NM_000368.4(TSC1):c.1628T>C (p.Leu543Pro)
NM_000368.4(TSC1):c.1631G>A (p.Gly544Glu) rs770570830
NM_000368.4(TSC1):c.1631_1647del (p.Gly544fs) rs118203552
NM_000368.4(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1662del (p.Pro554_Ile555insTer) rs118203554
NM_000368.4(TSC1):c.1664del (p.Ile555fs) rs397514829
NM_000368.4(TSC1):c.1669C>T (p.Leu557=) rs118203555
NM_000368.4(TSC1):c.1669del (p.Leu557fs) rs118203556
NM_000368.4(TSC1):c.166C>T (p.Pro56Ser) rs1330089369
NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.4(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.1676dup (p.Cys559fs) rs118203558
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.4(TSC1):c.1683_1705dup (p.Asp569fs) rs118203560
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1687G>C (p.Asp563His) rs1554815931
NM_000368.4(TSC1):c.1687del (p.Asp563fs) rs118203561
NM_000368.4(TSC1):c.168G>A (p.Pro56=) rs781483110
NM_000368.4(TSC1):c.1692_1693del (p.Ser565fs) rs118203562
NM_000368.4(TSC1):c.1696_1697insTC (p.Pro566fs) rs1064794760
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1702_1703del (p.Gly568fs) rs397514777
NM_000368.4(TSC1):c.1703dup (p.Asp569fs) rs397514777
NM_000368.4(TSC1):c.1706A>G (p.Asp569Gly)
NM_000368.4(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.4(TSC1):c.1713del (p.Glu571fs) rs796053471
NM_000368.4(TSC1):c.1715_1722dup (p.Ser575fs)
NM_000368.4(TSC1):c.1717C>T (p.Gln573Ter) rs118203565
NM_000368.4(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1724C>T (p.Ser575Phe) rs118203566
NM_000368.4(TSC1):c.1724del (p.Ser575fs) rs1554815889
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1727_1742del (p.Leu576fs) rs118203568
NM_000368.4(TSC1):c.1727_1748delinsG (p.Leu576_Pro583delinsCys) rs118203569
NM_000368.4(TSC1):c.1727del (p.Leu576fs) rs886041684
NM_000368.4(TSC1):c.1729G>T (p.Glu577Ter) rs118203570
NM_000368.4(TSC1):c.172T>C (p.Leu58=) rs1564503254
NM_000368.4(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.4(TSC1):c.1733C>T (p.Thr578Ile)
NM_000368.4(TSC1):c.1736del (p.Ser579fs) rs118203572
NM_000368.4(TSC1):c.1738A>G (p.Ile580Val) rs1179358967
NM_000368.4(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
NM_000368.4(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.4(TSC1):c.1746dup (p.Pro583fs) rs118203573
NM_000368.4(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.4(TSC1):c.1749_1750del (p.Pro585fs) rs118203574
NM_000368.4(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.4(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.4(TSC1):c.1757G>A (p.Cys586Tyr)
NM_000368.4(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer) rs118203575
NM_000368.4(TSC1):c.1757_1768delinsCA (p.Cys586fs) rs397514857
NM_000368.4(TSC1):c.1758del (p.Pro585_Cys586insTer) rs1554815856
NM_000368.4(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1761A>G (p.Lys587=) rs118203577
NM_000368.4(TSC1):c.1766del (p.Pro589fs) rs397514811
NM_000368.4(TSC1):c.1767A>G (p.Pro589=) rs118203578
NM_000368.4(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.4(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.4(TSC1):c.1772C>T (p.Pro591Leu) rs768985094
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1773_1774dup (p.Thr592fs) rs118203579
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1776G>A (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1776G>T (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1777A>T (p.Arg593Ter) rs118203581
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.4(TSC1):c.1781del (p.Val594fs) rs1554815829
NM_000368.4(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.4(TSC1):c.1788del (p.Phe596fs) rs118203582
NM_000368.4(TSC1):c.1791_1792dup (p.Ser598fs) rs118203583
NM_000368.4(TSC1):c.1792dup (p.Ser598fs) rs118203583
NM_000368.4(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.4(TSC1):c.1794C>T (p.Ser598=) rs766438395
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1800G>C (p.Gln600His) rs1254353359
NM_000368.4(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.4(TSC1):c.1805C>T (p.Pro602Leu)
NM_000368.4(TSC1):c.1808C>A (p.Pro603Gln)
NM_000368.4(TSC1):c.1808C>G (p.Pro603Arg)
NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.1809G>A (p.Pro603=) rs112434645
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1813G>A (p.Asp605Asn)
NM_000368.4(TSC1):c.1814A>G (p.Asp605Gly)
NM_000368.4(TSC1):c.1816C>T (p.His606Tyr)
NM_000368.4(TSC1):c.1818T>A (p.His606Gln) rs758769193
NM_000368.4(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.181_189del (p.Thr62_Leu64del) rs118203344
NM_000368.4(TSC1):c.1823_1824del (p.Leu607_Phe608insTer) rs118203585
NM_000368.4(TSC1):c.1823_1824dup (p.Glu609fs) rs118203585
NM_000368.4(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.4(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.1839A>G (p.Pro613=) rs118203588
NM_000368.4(TSC1):c.1841del (p.Lys614fs) rs118203589
NM_000368.4(TSC1):c.1844C>T (p.Thr615Ile)
NM_000368.4(TSC1):c.1848C>T (p.Ala616=) rs752286096
NM_000368.4(TSC1):c.1849C>G (p.His617Asp) rs397514854
NM_000368.4(TSC1):c.1849del (p.His617fs) rs1564481122
NM_000368.4(TSC1):c.1851del (p.His618fs) rs118203590
NM_000368.4(TSC1):c.1852C>G (p.His618Asp)
NM_000368.4(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.4(TSC1):c.1857del (p.Phe619fs) rs118203591
NM_000368.4(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.4(TSC1):c.1869G>A (p.Lys623=) rs778556382
NM_000368.4(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.4(TSC1):c.1871C>G (p.Thr624Ser)
NM_000368.4(TSC1):c.1871C>T (p.Thr624Ile) rs754401816
NM_000368.4(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.4(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.4(TSC1):c.1878G>A (p.Glu626=) rs753424167
NM_000368.4(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1883T>A (p.Leu628Ter) rs118203592
NM_000368.4(TSC1):c.1883T>G (p.Leu628Ter) rs118203592
NM_000368.4(TSC1):c.1884A>G (p.Leu628=) rs1038140620
NM_000368.4(TSC1):c.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.1884_1905del (p.Lys629fs) rs397514796
NM_000368.4(TSC1):c.1886del (p.Lys629fs) rs118203594
NM_000368.4(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433
NM_000368.4(TSC1):c.188C>T (p.Thr63Ile) rs1564503204
NM_000368.4(TSC1):c.1890dup (p.Ala631fs) rs118203596
NM_000368.4(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.4(TSC1):c.1896del (p.Gly633fs) rs1564480935
NM_000368.4(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.4(TSC1):c.1902_1903CA[1] (p.Thr635fs) rs118203597
NM_000368.4(TSC1):c.1905_1906AG[1] (p.Glu636fs) rs118203599
NM_000368.4(TSC1):c.1906G>C (p.Glu636Gln)
NM_000368.4(TSC1):c.1911del (p.Asp638fs) rs397514801
NM_000368.4(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.191_199del (p.Leu64_Pro67delinsSer) rs118203346
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1922C>A (p.Pro641His) rs397514863
NM_000368.4(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306
NM_000368.4(TSC1):c.192G>T (p.Leu64Phe) rs1554820635
NM_000368.4(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1937T>C (p.Met646Thr)
NM_000368.4(TSC1):c.1939G>A (p.Glu647Lys) rs1171512070
NM_000368.4(TSC1):c.1942del (p.Val648fs) rs118203600
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.4(TSC1):c.1949A>G (p.Asp650Gly) rs939275328
NM_000368.4(TSC1):c.1954C>T (p.Leu652=) rs747452647
NM_000368.4(TSC1):c.1955_1956del (p.Leu652fs) rs118203601
NM_000368.4(TSC1):c.1958_1959del (p.Ile653fs) rs118203602
NM_000368.4(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.4(TSC1):c.1960C>A (p.Gln654Lys) rs75820036
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.4(TSC1):c.1964del (p.Gln655fs) rs397514793
NM_000368.4(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.4(TSC1):c.1968A>C (p.Gly656=) rs118203607
NM_000368.4(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1975G>A (p.Ala659Thr) rs914628341
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.4(TSC1):c.1995C>G (p.Asn665Lys)
NM_000368.4(TSC1):c.1997+133A>G
NM_000368.4(TSC1):c.1997+17C>G rs397514860
NM_000368.4(TSC1):c.1997+1G>A rs118203610
NM_000368.4(TSC1):c.1997+1G>C rs118203610
NM_000368.4(TSC1):c.1997+3A>G rs1554815682
NM_000368.4(TSC1):c.1997+5G>C rs1554815679
NM_000368.4(TSC1):c.1997+71_1997+72del rs118203612
NM_000368.4(TSC1):c.1997+9C>T rs371043832
NM_000368.4(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341
NM_000368.4(TSC1):c.1998-19T>G rs184408837
NM_000368.4(TSC1):c.1998-1G>A rs118203614
NM_000368.4(TSC1):c.1998-1G>C rs118203614
NM_000368.4(TSC1):c.1998-1G>T rs118203614
NM_000368.4(TSC1):c.1998-2A>G rs1057518217
NM_000368.4(TSC1):c.1998-53G>A rs368679682
NM_000368.4(TSC1):c.1998-54C>T rs118203613
NM_000368.4(TSC1):c.1998-9dup rs1388433086
NM_000368.4(TSC1):c.1998G>A (p.Lys666=) rs118203616
NM_000368.4(TSC1):c.2001_2004del (p.Leu667fs) rs1554815476
NM_000368.4(TSC1):c.2006T>C (p.Leu669Ser) rs118203617
NM_000368.4(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.4(TSC1):c.2018C>A (p.Ser673Tyr)
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2021T>G (p.Val674Gly)
NM_000368.4(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.4(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.4(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.4(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.4(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.4(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.4(TSC1):c.2030C>T (p.Thr677Ile) rs779584449
NM_000368.4(TSC1):c.2030_2040del (p.Thr677fs) rs118203622
NM_000368.4(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.4(TSC1):c.2032C>T (p.His678Tyr)
NM_000368.4(TSC1):c.2033_2041+14del rs397514817
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
NM_000368.4(TSC1):c.2038G>A (p.Gly680Arg) rs757322533
NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.4(TSC1):c.203A>G (p.His68Arg) rs118203347
NM_000368.4(TSC1):c.2041+1G>A rs397514842
NM_000368.4(TSC1):c.2041+2T>A rs118203625
NM_000368.4(TSC1):c.2041+2T>C rs118203625
NM_000368.4(TSC1):c.2041+5delA rs1564479424
NM_000368.4(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.4(TSC1):c.2042-2A>G rs118203628
NM_000368.4(TSC1):c.2042-5A>G rs118203627
NM_000368.4(TSC1):c.2044T>C (p.Ser682Pro)
NM_000368.4(TSC1):c.2044_2045TC[1] (p.Pro683fs) rs397514869
NM_000368.4(TSC1):c.2047_2049CCT[1] (p.Pro684del) rs397514799
NM_000368.4(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.4(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
NM_000368.4(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
NM_000368.4(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.4(TSC1):c.2064C>T (p.Ile688=) rs878853963
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer) rs118203630
NM_000368.4(TSC1):c.2070_2097dup (p.Asn700fs) rs1554815323
NM_000368.4(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.4(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.4(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer) rs886042012
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2080C>A (p.Gln694Lys)
NM_000368.4(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.4(TSC1):c.2082del (p.Gln694fs) rs118203632
NM_000368.4(TSC1):c.2085G>A (p.Leu695=) rs767518902
NM_000368.4(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.4(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.4(TSC1):c.2093T>G (p.Leu698Arg) rs397514802
NM_000368.4(TSC1):c.2094del (p.His699fs) rs118203634
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
NM_000368.4(TSC1):c.2097C>A (p.His699Gln) rs1554815319
NM_000368.4(TSC1):c.2097dup (p.Asn700fs) rs118203635
NM_000368.4(TSC1):c.210+13A>G rs759235039
NM_000368.4(TSC1):c.210+16T>G rs1057522568
NM_000368.4(TSC1):c.210+18A>G rs118203349
NM_000368.4(TSC1):c.210+1G>A rs118203348
NM_000368.4(TSC1):c.210+290T>C
NM_000368.4(TSC1):c.210+33G>A rs118203350
NM_000368.4(TSC1):c.2101_2102del (p.Gln701fs) rs118203637
NM_000368.4(TSC1):c.2101_2107del (p.Gln701fs) rs397514791
NM_000368.4(TSC1):c.2101del (p.Gln701fs) rs118203636
NM_000368.4(TSC1):c.2103G>T (p.Gln701His) rs118203639
NM_000368.4(TSC1):c.2103_2106del (p.Gln701fs) rs118203638
NM_000368.4(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.4(TSC1):c.2103_2109dup (p.Tyr704fs) rs118203641
NM_000368.4(TSC1):c.2105_2106insCT (p.Leu702fs) rs1564478705
NM_000368.4(TSC1):c.2106_2107insGTTTA (p.Leu703fs) rs118203642
NM_000368.4(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) rs1057517842
NM_000368.4(TSC1):c.2106delinsGT (p.Leu703fs) rs397514838
NM_000368.4(TSC1):c.2107_2108CT[1] (p.Leu703_Tyr704insTer) rs118203643
NM_000368.4(TSC1):c.210G>A (p.Lys70=) rs1060503219
NM_000368.4(TSC1):c.211-10delA rs1060504859
NM_000368.4(TSC1):c.211-11dup rs397514775
NM_000368.4(TSC1):c.211-157G>A
NM_000368.4(TSC1):c.211-16T>C rs118203351
NM_000368.4(TSC1):c.211-1G>A rs118203353
NM_000368.4(TSC1):c.211-1G>T rs118203353
NM_000368.4(TSC1):c.211-2A>C rs118203352
NM_000368.4(TSC1):c.211-3C>T rs1564501920
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.2110dup (p.Tyr704fs) rs118203644
NM_000368.4(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.4(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.4(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2116C>A (p.Arg706Ser)
NM_000368.4(TSC1):c.2116C>T (p.Arg706Cys)
NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.4(TSC1):c.2135_2139del (p.His712fs) rs118203648
NM_000368.4(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.4(TSC1):c.213C>A (p.His71Gln) rs765578482
NM_000368.4(TSC1):c.2141T>A (p.Leu714His) rs1438737976
NM_000368.4(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.4(TSC1):c.2145G>C (p.Arg715=) rs1379334013
NM_000368.4(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.4(TSC1):c.2146_2153dup (p.Leu719fs) rs397514803
NM_000368.4(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.4(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.4(TSC1):c.214C>G (p.Leu72Val)
NM_000368.4(TSC1):c.2151dup (p.Arg718fs) rs118203651
NM_000368.4(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.4(TSC1):c.2156del (p.Leu719fs) rs886041456
NM_000368.4(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.4(TSC1):c.2161C>T (p.Arg721Cys)
NM_000368.4(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2164A>T (p.Lys722Ter) rs397514772
NM_000368.4(TSC1):c.2165del (p.Lys722fs) rs1060503213
NM_000368.4(TSC1):c.2169del (p.Ile724fs) rs118203652
NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.4(TSC1):c.2173_2176del (p.Lys725fs) rs118203653
NM_000368.4(TSC1):c.2175dup (p.Ala726fs) rs118203654
NM_000368.4(TSC1):c.2177C>A (p.Ala726Glu) rs118203655
NM_000368.4(TSC1):c.2177_2180dup (p.Ala728fs) rs1554815246
NM_000368.4(TSC1):c.2183C>T (p.Ala728Val) rs1564478337
NM_000368.4(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.4(TSC1):c.2191del (p.Glu731fs) rs118203656
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.4(TSC1):c.2196T>C (p.His732=) rs776441369
NM_000368.4(TSC1):c.2198A>C (p.Asn733Thr) rs1564478277
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2208+10G>T rs945077563
NM_000368.4(TSC1):c.2208+171A>G
NM_000368.4(TSC1):c.2208+17G>A rs1057523691
NM_000368.4(TSC1):c.2208+23G>A rs118203658
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2209-11G>T rs1388387332
NM_000368.4(TSC1):c.2209-14C>T rs1554815062
NM_000368.4(TSC1):c.2209-35A>G rs118203659
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2209-9C>T rs118203660
NM_000368.4(TSC1):c.2209A>G (p.Lys737Glu)
NM_000368.4(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.4(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.4(TSC1):c.2225T>C (p.Leu742Ser) rs1060503201
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.4(TSC1):c.2231_2235del (p.Glu744fs) rs1554815049
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.4(TSC1):c.2239A>G (p.Ile747Val) rs1564477496
NM_000368.4(TSC1):c.2242C>T (p.Gln748Ter)
NM_000368.4(TSC1):c.2244G>C (p.Gln748His)
NM_000368.4(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.4(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.4(TSC1):c.2260C>T (p.Leu754=) rs118203664
NM_000368.4(TSC1):c.2264_2267AGAA[1] (p.Lys756fs) rs118203665
NM_000368.4(TSC1):c.2269G>T (p.Glu757Ter) rs1057519319
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.4(TSC1):c.2276C>T (p.Ala759Val) rs1554815021
NM_000368.4(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.4(TSC1):c.2280_2295del (p.Tyr761fs) rs118203666
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2281_2284dup (p.Asn762fs) rs118203667
NM_000368.4(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2283C>G (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2284A>G (p.Asn762Asp)
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.4(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.4(TSC1):c.2291del (p.Leu764fs) rs118203672
NM_000368.4(TSC1):c.2292_2293insT (p.Gln765fs) rs1064794504
NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.4(TSC1):c.2298_2320del (p.Gln767fs) rs118203674
NM_000368.4(TSC1):c.2299C>G (p.Gln767Glu)
NM_000368.4(TSC1):c.2299C>T (p.Gln767Ter) rs118203675
NM_000368.4(TSC1):c.2302C>T (p.Arg768Cys)
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2307C>T (p.Asp769=) rs876658671
NM_000368.4(TSC1):c.2311A>G (p.Met771Val) rs1057522203
NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) rs760208449
NM_000368.4(TSC1):c.2317_2318delinsCA (p.Thr773His) rs1060503202
NM_000368.4(TSC1):c.2317del (p.Thr773fs) rs118203676
NM_000368.4(TSC1):c.2319del (p.Lys774fs) rs118203677
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2323C>T (p.Leu775Phe) rs868755168
NM_000368.4(TSC1):c.2326_2327CA[1] (p.His776fs) rs118203678
NM_000368.4(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.4(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.4(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.4(TSC1):c.2332C>T (p.Gln778Ter) rs118203679
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.2340_2343del (p.Arg780fs)
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.4(TSC1):c.2341_2360dup (p.Glu787fs) rs1554814935
NM_000368.4(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.4(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562
NM_000368.4(TSC1):c.2357del (p.Arg786fs) rs118203683
NM_000368.4(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.4(TSC1):c.2360_2364del (p.Glu787fs) rs118203684
NM_000368.4(TSC1):c.2360del (p.Glu787fs)
NM_000368.4(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.4(TSC1):c.2364del (p.Glu788fs) rs118203686
NM_000368.4(TSC1):c.2369A>G (p.Tyr790Cys)
NM_000368.4(TSC1):c.236A>G (p.Tyr79Cys) rs373855276
NM_000368.4(TSC1):c.2372A>G (p.Asn791Ser) rs876660894
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.2380C>A (p.Gln794Lys)
NM_000368.4(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.4(TSC1):c.2387dup (p.Leu796fs) rs397514786
NM_000368.4(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2391+14C>T rs757480492
NM_000368.4(TSC1):c.2391+17C>T rs572485175
NM_000368.4(TSC1):c.2391+1G>C rs1060503224
NM_000368.4(TSC1):c.2391+8C>T rs1554814904
NM_000368.4(TSC1):c.2392-14G>A rs1057524717
NM_000368.4(TSC1):c.2392-16A>G rs758374143
NM_000368.4(TSC1):c.2392-1G>A rs397514822
NM_000368.4(TSC1):c.2392-222C>T
NM_000368.4(TSC1):c.2392-35T>C rs11243931
NM_000368.4(TSC1):c.2392-5G>A rs1463016849
NM_000368.4(TSC1):c.2392-7T>C rs1554814693
NM_000368.4(TSC1):c.2392-8_2392-7delTT rs1554814696
NM_000368.4(TSC1):c.2393C>T (p.Thr798Met)
NM_000368.4(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.23G>T (p.Gly8Val) rs1269896419
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.4(TSC1):c.2407del (p.Cys803fs) rs118203688
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2412_2425del (p.Asn805fs) rs118203689
NM_000368.4(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.4(TSC1):c.2421dup (p.Ala808fs) rs118203691
NM_000368.4(TSC1):c.2423C>T (p.Ala808Val) rs756514375
NM_000368.4(TSC1):c.2424G>A (p.Ala808=) rs200651872
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.4(TSC1):c.2431C>T (p.Arg811Trp)
NM_000368.4(TSC1):c.2432G>A (p.Arg811Gln)
NM_000368.4(TSC1):c.2438A>G (p.Glu813Gly) rs1554814657
NM_000368.4(TSC1):c.243C>T (p.Gly81=)
NM_000368.4(TSC1):c.2446A>T
NM_000368.4(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.4(TSC1):c.2451_2453CAA[2] (p.Asn819del)
NM_000368.4(TSC1):c.2456_2459del (p.Asn819fs) rs118203693
NM_000368.4(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.4(TSC1):c.245A>C (p.Lys82Thr) rs118203356
NM_000368.4(TSC1):c.2461_2462GT[2] (p.Cys822fs) rs118203694
NM_000368.4(TSC1):c.2468_2469AC[1] (p.His823_Thr824insTer) rs118203697
NM_000368.4(TSC1):c.2468_2469insG (p.His823fs) rs118203696
NM_000368.4(TSC1):c.2468del (p.His823fs) rs118203695
NM_000368.4(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.4(TSC1):c.2471_2472del (p.Thr824fs) rs118203698
NM_000368.4(TSC1):c.2472T>A (p.Thr824=)
NM_000368.4(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2483_2486TCAG[1] (p.Ser829fs) rs886039735
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2485A>T (p.Ser829Cys) rs118203699
NM_000368.4(TSC1):c.2488C>G (p.Gln830Glu) rs1564475884
NM_000368.4(TSC1):c.2488C>T (p.Gln830Ter) rs1564475884
NM_000368.4(TSC1):c.248C>T (p.Ala83Val)
NM_000368.4(TSC1):c.2491G>A (p.Val831Ile) rs773279842
NM_000368.4(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.4(TSC1):c.2497C>T (p.Gln833Ter) rs118203700
NM_000368.4(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.24_42delinsCAA (p.Glu9fs) rs1554821022
NM_000368.4(TSC1):c.2501dup (p.Leu835fs) rs118203701
NM_000368.4(TSC1):c.2502+18A>C rs200908079
NM_000368.4(TSC1):c.2502+2_2502+9del
NM_000368.4(TSC1):c.2502+51A>G rs75802666
NM_000368.4(TSC1):c.2502+8_2502+10delGAA rs762882968
NM_000368.4(TSC1):c.2503-15A>G rs752540347
NM_000368.4(TSC1):c.2503-1G>T rs118203705
NM_000368.4(TSC1):c.2503-21T>C rs118203703
NM_000368.4(TSC1):c.2503-2A>G rs118203704
NM_000368.4(TSC1):c.2503-35T>C rs118203702
NM_000368.4(TSC1):c.2503-3T>C rs1355806067
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.4(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.4(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.4(TSC1):c.2511C>T (p.Asn837=) rs1554814448
NM_000368.4(TSC1):c.2513G>A (p.Ser838Asn) rs1060503208
NM_000368.4(TSC1):c.2514T>C (p.Ser838=) rs786203259
NM_000368.4(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.4(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.4(TSC1):c.2519C>T (p.Ser840Leu) rs1564475110
NM_000368.4(TSC1):c.2520G>A (p.Ser840=) rs547498792
NM_000368.4(TSC1):c.2521dup (p.Val841fs) rs397514850
NM_000368.4(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.4(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2528_2534del (p.Gln843fs) rs118203710
NM_000368.4(TSC1):c.252dup (p.Thr85fs) rs118203358
NM_000368.4(TSC1):c.2530C>T (p.Gln844Ter) rs1114167619
NM_000368.4(TSC1):c.2545_2566del (p.Asn849fs) rs1564474974
NM_000368.4(TSC1):c.2547C>G (p.Asn849Lys) rs1554814418
NM_000368.4(TSC1):c.2549G>A (p.Arg850Lys) rs1060503195
NM_000368.4(TSC1):c.2551C>G (p.Gln851Glu)
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.4(TSC1):c.255T>C (p.Thr85=) rs1060504856
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2569dup (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2577C>T (p.Asn859=) rs781553258
NM_000368.4(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.4(TSC1):c.2585A>G (p.Tyr862Cys) rs1060503221
NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.4(TSC1):c.2595del (p.Gln865fs) rs118203714
NM_000368.4(TSC1):c.2604C>T (p.Asn868=) rs147163264
NM_000368.4(TSC1):c.2606A>G (p.Lys869Arg)
NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.4(TSC1):c.260_261insGA (p.Ser88fs) rs118203359
NM_000368.4(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.4(TSC1):c.2614G>C (p.Asp872His) rs746607455
NM_000368.4(TSC1):c.261dup (p.Ser88fs)
NM_000368.4(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.4(TSC1):c.2625+15G>A rs565234395
NM_000368.4(TSC1):c.2625+19G>A rs200135828
NM_000368.4(TSC1):c.2625+1G>A rs118203715
NM_000368.4(TSC1):c.2625+367A>G rs1564474542
NM_000368.4(TSC1):c.2625+4T>G
NM_000368.4(TSC1):c.2625+68G>A
NM_000368.4(TSC1):c.2626-1G>A rs397514847
NM_000368.4(TSC1):c.2626-21_2626-20dup rs5901000
NM_000368.4(TSC1):c.2626-2A>C
NM_000368.4(TSC1):c.2626-2A>G rs118203717
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.4(TSC1):c.2626-3_2626-2insTT rs760737807
NM_000368.4(TSC1):c.2626-3delC rs886063622
NM_000368.4(TSC1):c.2626-3dupC rs1554813639
NM_000368.4(TSC1):c.2626-4T(17_21) rs5901000
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626-4_2626-3dupTC rs1554813638
NM_000368.4(TSC1):c.2626-4_2626-3insT rs5901000
NM_000368.4(TSC1):c.2626-4_2626-3insTC rs1554813651
NM_000368.4(TSC1):c.2626-4delT rs5901000
NM_000368.4(TSC1):c.2626-5T>G
NM_000368.4(TSC1):c.2626-5_2626-4delTT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4delTTT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.4(TSC1):c.2626G>T (p.Glu876Ter) rs747602915
NM_000368.4(TSC1):c.2626_2975del
NM_000368.4(TSC1):c.2626_3495del
NM_000368.4(TSC1):c.2630T>C (p.Val877Ala) rs1564472328
NM_000368.4(TSC1):c.2636T>C (p.Met879Thr)
NM_000368.4(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.4(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.4(TSC1):c.263C>G (p.Ser88Cys)
NM_000368.4(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.4(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.4(TSC1):c.2643A>T (p.Lys881Asn) rs1554813602
NM_000368.4(TSC1):c.2645C>T (p.Ala882Val) rs1554813594
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2650dup (p.Tyr884fs) rs118203722
NM_000368.4(TSC1):c.2651A>G (p.Tyr884Cys)
NM_000368.4(TSC1):c.2652T>A (p.Tyr884Ter) rs397514805
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2656A>T (p.Lys886Ter) rs1554813568
NM_000368.4(TSC1):c.2657_2658del (p.Lys886fs) rs397514788
NM_000368.4(TSC1):c.2658A>G (p.Lys886=) rs368212910
NM_000368.4(TSC1):c.2658del (p.Glu887fs) rs397514788
NM_000368.4(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.4(TSC1):c.266T>C (p.Ile89Thr) rs1564501791
NM_000368.4(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.4(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595
NM_000368.4(TSC1):c.2681A>G (p.His894Arg)
NM_000368.4(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.4(TSC1):c.2683G>A (p.Val895Ile) rs576476807
NM_000368.4(TSC1):c.2686C>A (p.Leu896Ile)
NM_000368.4(TSC1):c.2686C>T (p.Leu896Phe)
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.2694del (p.Thr899fs) rs118203729
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.4(TSC1):c.2699del (p.Gln900fs) rs118203731
NM_000368.4(TSC1):c.269_270TC[1] (p.Ser91fs) rs118203360
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.2700G>C (p.Gln900His)
NM_000368.4(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.4(TSC1):c.2711C>T (p.Thr904Ile) rs1564471932
NM_000368.4(TSC1):c.2715_2716dup (p.Gln906fs)
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.271del (p.Ser91fs)
NM_000368.4(TSC1):c.2721del (p.Lys907fs)
NM_000368.4(TSC1):c.2722C>T (p.Arg908Trp) rs748845915
NM_000368.4(TSC1):c.2723G>A (p.Arg908Gln) rs780115763
NM_000368.4(TSC1):c.272C>A (p.Ser91Ter) rs118203361
NM_000368.4(TSC1):c.272C>T (p.Ser91Leu)
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.4(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.4(TSC1):c.2755A>G (p.Lys919Glu) rs1319954878
NM_000368.4(TSC1):c.2756A>C (p.Lys919Thr) rs1324456435
NM_000368.4(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.4(TSC1):c.2761C>A (p.His921Asn)
NM_000368.4(TSC1):c.2766T>G (p.Leu922=) rs546119844
NM_000368.4(TSC1):c.276_277insAA (p.Leu93fs) rs118203362
NM_000368.4(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.4(TSC1):c.2776C>G (p.Gln926Glu)
NM_000368.4(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.4(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.4(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.4(TSC1):c.2781G>A (p.Lys927=) rs118203733
NM_000368.4(TSC1):c.2781_2784del (p.Lys927fs) rs397514845
NM_000368.4(TSC1):c.2784_2785AT[1] (p.Tyr929fs) rs118203734
NM_000368.4(TSC1):c.278T>G (p.Leu93Arg) rs118203363
NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.4(TSC1):c.2811_2813+2del5 rs118203736
NM_000368.4(TSC1):c.2812A>C (p.Arg938=) rs1207111375
NM_000368.4(TSC1):c.2813+3_2813+21del19 rs118203737
NM_000368.4(TSC1):c.2813+51A>G rs118203738
NM_000368.4(TSC1):c.2813+5C>T rs1060503223
NM_000368.4(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.4(TSC1):c.2814-2A>G
NM_000368.4(TSC1):c.2814-7C>T rs1060504851
NM_000368.4(TSC1):c.2814-9A>G rs878853965
NM_000368.4(TSC1):c.2814A>C (p.Arg938Ser)
NM_000368.4(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.4(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2830G>A (p.Ala944Thr) rs751362258
NM_000368.4(TSC1):c.2830_2831insGCCTG (p.Ala944fs) rs118203739
NM_000368.4(TSC1):c.2836A>T (p.Ser946Cys) rs1060503225
NM_000368.4(TSC1):c.2841G>T (p.Arg947Ser) rs1417111404
NM_000368.4(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.4(TSC1):c.2861_2862delinsAC (p.Ile954Asn) rs1564471610
NM_000368.4(TSC1):c.2864C>A (p.Thr955Asn)
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2866C>T (p.Gln956Ter) rs1554813331
NM_000368.4(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461
NM_000368.4(TSC1):c.2867A>T (p.Gln956Leu) rs1212768461
NM_000368.4(TSC1):c.287T>C (p.Val96Ala) rs370243092
NM_000368.4(TSC1):c.2882A>G (p.Glu961Gly) rs760762170
NM_000368.4(TSC1):c.2885T>G (p.Ile962Ser) rs1438535722
NM_000368.4(TSC1):c.2890G>A (p.Asp964Asn)
NM_000368.4(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.4(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217
NM_000368.4(TSC1):c.2896T>C (p.Tyr966His) rs767946427
NM_000368.4(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
NM_000368.4(TSC1):c.289A>G (p.Ile97Val) rs138541569
NM_000368.4(TSC1):c.28C>T (p.Leu10Phe) rs1399717425
NM_000368.4(TSC1):c.2901C>T (p.Gly967=) rs774634388
NM_000368.4(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2924T>A (p.Leu975Gln) rs549467159
NM_000368.4(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.4(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2933T>C (p.Leu978Pro)
NM_000368.4(TSC1):c.2933T>G (p.Leu978Arg) rs770834438
NM_000368.4(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.4(TSC1):c.2935_2937GAA[2] (p.Glu981del) rs1233796412
NM_000368.4(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.4(TSC1):c.2940A>G (p.Glu980=) rs557674294
NM_000368.4(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.4(TSC1):c.2949_2957del (p.985_987AAE[1]) rs767902029
NM_000368.4(TSC1):c.2953G>A (p.Ala985Thr) rs1554813242
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.2974del (p.Arg992fs) rs1554813210
NM_000368.4(TSC1):c.2975+127G>T
NM_000368.4(TSC1):c.2975+4G>C rs1057521710
NM_000368.4(TSC1):c.2975+6A>T rs1060503220
NM_000368.4(TSC1):c.2976-10T>A rs913722609
NM_000368.4(TSC1):c.2976-18T>C rs397514866
NM_000368.4(TSC1):c.2976-43G>C rs7853849
NM_000368.4(TSC1):c.2976-54G>A rs118203740
NM_000368.4(TSC1):c.2976-8T>G rs1060504858
NM_000368.4(TSC1):c.2976G>T (p.Arg992Ser)
NM_000368.4(TSC1):c.2982C>T (p.Asp994=) rs199919348
NM_000368.4(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.2995G>C (p.Gly999Arg)
NM_000368.4(TSC1):c.3000C>G (p.Cys1000Trp)
NM_000368.4(TSC1):c.3004G>A (p.Asp1002Asn)
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.4(TSC1):c.3010A>G (p.Met1004Val)
NM_000368.4(TSC1):c.3011T>C (p.Met1004Thr) rs757370776
NM_000368.4(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.4(TSC1):c.3016G>C (p.Gly1006Arg)
NM_000368.4(TSC1):c.3019C>T (p.His1007Tyr) rs764738792
NM_000368.4(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3030G>T (p.Glu1010Asp) rs118203741
NM_000368.4(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449
NM_000368.4(TSC1):c.3034T>C (p.Ser1012Pro) rs764979889
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721
NM_000368.4(TSC1):c.3048T>C (p.Gly1016=) rs786203900
NM_000368.4(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.4(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.4(TSC1):c.305C>G (p.Ser102Cys) rs1307630727
NM_000368.4(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.4(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.4(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.4(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.4(TSC1):c.3075C>T (p.Ser1025=) rs765753157
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3076G>T (p.Ala1026Ser)
NM_000368.4(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
NM_000368.4(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461
NM_000368.4(TSC1):c.3084_3086del (p.Ser1030del)
NM_000368.4(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3088A>T (p.Ser1030Cys)
NM_000368.4(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.4(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.4(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3106G>A (p.Gly1036Arg)
NM_000368.4(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.4(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391
NM_000368.4(TSC1):c.3112_3114AGC[3] (p.Ser1041_Ser1043del)
NM_000368.4(TSC1):c.3112_3114AGC[4] (p.Ser1042_Ser1043del)
NM_000368.4(TSC1):c.3112_3114AGC[5] (p.Ser1043del) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[7] (p.Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.4(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228
NM_000368.4(TSC1):c.3120C>T (p.Ser1040=) rs1289954163
NM_000368.4(TSC1):c.3121A>G (p.Ser1041Gly) rs1060503204
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.3129_3130dup (p.Glu1044fs) rs1554812845
NM_000368.4(TSC1):c.3129_3130insAGCATCAGC (p.Glu1044_Leu1045insSerIleSer)
NM_000368.4(TSC1):c.312G>T (p.Lys104Asn) rs1554820281
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3133C>G (p.Leu1045Val)
NM_000368.4(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3141C>A (p.Thr1047=) rs892228756
NM_000368.4(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.4(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.4(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.4(TSC1):c.3151C>T (p.Pro1051Ser)
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3161A>G (p.Gln1054Arg)
NM_000368.4(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.4(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val) rs587778725
NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727
NM_000368.4(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743
NM_000368.4(TSC1):c.3175T>C (p.Phe1059Leu)
NM_000368.4(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747
NM_000368.4(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.4(TSC1):c.3181A>G (p.Ser1061Gly) rs1203493016
NM_000368.4(TSC1):c.3184C>A (p.Arg1062=) rs118203745
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992
NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) rs753388676
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899
NM_000368.4(TSC1):c.3206A>T (p.Glu1069Val) rs1554812780
NM_000368.4(TSC1):c.3207A>G (p.Glu1069=) rs878853966
NM_000368.4(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.4(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.4(TSC1):c.320_321TC[2] (p.Gln109fs) rs397514795
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3215C>T (p.Ala1072Val)
NM_000368.4(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.4(TSC1):c.3228C>T (p.Thr1076=) rs140622357
NM_000368.4(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.4(TSC1):c.3234G>A (p.Val1078=) rs1564470051
NM_000368.4(TSC1):c.3237C>T (p.Gly1079=) rs749995749
NM_000368.4(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.4(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.4(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.4(TSC1):c.3249T>C (p.Ser1083=)
NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.4(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.4(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678
NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.4(TSC1):c.3266G>A (p.Gly1089Asp)
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3274G>T (p.Ala1092Ser)
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.4(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.4(TSC1):c.329C>T (p.Ala110Val)
NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) rs754282309
NM_000368.4(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3305G>A (p.Ser1102Asn)
NM_000368.4(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680
NM_000368.4(TSC1):c.3308A>G (p.Gln1103Arg) rs1564469848
NM_000368.4(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.4(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.4(TSC1):c.331C>T (p.Pro111Ser)
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.4(TSC1):c.332_333CT[3] (p.Leu113fs) rs118203366
NM_000368.4(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.4(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.4(TSC1):c.3347G>A (p.Ser1116Asn) rs764140399
NM_000368.4(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.4(TSC1):c.3350T>C (p.Leu1117Pro) rs762641110
NM_000368.4(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987
NM_000368.4(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.4(TSC1):c.3363G>C (p.Leu1121=) rs1060504857
NM_000368.4(TSC1):c.3364G>A (p.Gly1122Ser)
NM_000368.4(TSC1):c.3368_3369del (p.Lys1123fs) rs878853967
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3389A>G (p.Lys1130Arg)
NM_000368.4(TSC1):c.338del (p.Leu113fs) rs118203367
NM_000368.4(TSC1):c.3395C>T (p.Pro1132Leu)
NM_000368.4(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3396C>T (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3397C>T (p.Leu1133=) rs1244090738
NM_000368.4(TSC1):c.3400A>C (p.Asn1134His) rs1554812610
NM_000368.4(TSC1):c.3402C>T (p.Asn1134=) rs769266225
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.4(TSC1):c.3414T>C (p.Pro1138=) rs745475737
NM_000368.4(TSC1):c.3416A>C (p.His1139Pro) rs764018144
NM_000368.4(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355
NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) rs763931959
NM_000368.4(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.4(TSC1):c.3424C>T (p.Pro1142Ser)
NM_000368.4(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3433C>G (p.Pro1145Ala)
NM_000368.4(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.3436del (p.Asp1146fs)
NM_000368.4(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733
NM_000368.4(TSC1):c.3442G>A (p.Val1148Ile) rs1554812551
NM_000368.4(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.4(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.4(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.4(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.4(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550
NM_000368.4(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.4(TSC1):c.348A>C (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.4(TSC1):c.356G>A (p.Cys119Tyr)
NM_000368.4(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.4(TSC1):c.358C>A (p.Leu120Ile) rs1554820263
NM_000368.4(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000368.4(TSC1):c.362A>G (p.Lys121Arg) rs118203369
NM_000368.4(TSC1):c.362A>T (p.Lys121Met) rs118203369
NM_000368.4(TSC1):c.363+1G>A rs118203372
NM_000368.4(TSC1):c.363+1G>T rs118203372
NM_000368.4(TSC1):c.363+1dupG rs118203371
NM_000368.4(TSC1):c.363+3A>G
NM_000368.4(TSC1):c.363+3_363+18del16 rs1554820251
NM_000368.4(TSC1):c.363+47T>C rs118203375
NM_000368.4(TSC1):c.363+5G>A rs118203374
NM_000368.4(TSC1):c.363G>A (p.Lys121=) rs118203370
NM_000368.4(TSC1):c.364-1G>C rs118203376
NM_000368.4(TSC1):c.364-7C>T rs775465260
NM_000368.4(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.4(TSC1):c.370A>G (p.Thr124Ala) rs745871522
NM_000368.4(TSC1):c.372dup (p.Asp125Ter) rs118203377
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
NM_000368.4(TSC1):c.378C>T (p.Val126=) rs373173550
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.4(TSC1):c.383T>C (p.Val128Ala)
NM_000368.4(TSC1):c.384_401del (p.Leu129_Leu134del)
NM_000368.4(TSC1):c.385C>G (p.Leu129Val) rs1060503198
NM_000368.4(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.4(TSC1):c.389C>T (p.Thr130Ile) rs779340088
NM_000368.4(TSC1):c.389_390delinsT (p.Thr130fs) rs1554819932
NM_000368.4(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.4(TSC1):c.395G>C (p.Gly132Ala)
NM_000368.4(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.4(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.4(TSC1):c.402G>A (p.Leu134=) rs147125501
NM_000368.4(TSC1):c.418C>G (p.Leu140Val) rs1554819915
NM_000368.4(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.4(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.4(TSC1):c.431_432CA[1] (p.Gln145fs) rs118203383
NM_000368.4(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.4(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.4(TSC1):c.445C>G (p.Gln149Glu) rs118203384
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.4(TSC1):c.448C>T (p.His150Tyr) rs1060503206
NM_000368.4(TSC1):c.451_455delinsTTTC (p.Leu151fs) rs1554819900
NM_000368.4(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.4(TSC1):c.45C>T (p.Asp15=) rs1457262106
NM_000368.4(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.4(TSC1):c.467A>C (p.Asp156Ala) rs893232039
NM_000368.4(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.4(TSC1):c.473T>G (p.Phe158Cys) rs118203385
NM_000368.4(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.4(TSC1):c.479G>A (p.Arg160His) rs749979841
NM_000368.4(TSC1):c.47C>G (p.Ser16Cys) rs774900322
NM_000368.4(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.4(TSC1):c.484T>C (p.Ser162Pro) rs1060503205
NM_000368.4(TSC1):c.489A>T (p.Ser163=) rs118203386
NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.4(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.4(TSC1):c.495C>A (p.Cys165Ter) rs118203388
NM_000368.4(TSC1):c.503A>C (p.Lys168Thr) rs1007335343
NM_000368.4(TSC1):c.504del (p.Lys168fs) rs118203389
NM_000368.4(TSC1):c.508+18T>C rs1057522667
NM_000368.4(TSC1):c.508+1G>A rs118203390
NM_000368.4(TSC1):c.508+1G>C rs118203390
NM_000368.4(TSC1):c.508+1G>T
NM_000368.4(TSC1):c.508+3A>G rs1554819862
NM_000368.4(TSC1):c.508+99T>C
NM_000368.4(TSC1):c.509-10C>T rs780670013
NM_000368.4(TSC1):c.509-15G>A rs118203391
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.514G>A (p.Val172Met) rs952813051
NM_000368.4(TSC1):c.514G>C (p.Val172Leu)
NM_000368.4(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.4(TSC1):c.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.51C>G (p.Pro17=) rs768175095
NM_000368.4(TSC1):c.520G>T (p.Glu174Ter) rs118203392
NM_000368.4(TSC1):c.521A>G (p.Glu174Gly)
NM_000368.4(TSC1):c.523G>T (p.Val175Phe) rs1564498330
NM_000368.4(TSC1):c.524T>C (p.Val175Ala) rs1415895533
NM_000368.4(TSC1):c.524dup (p.Tyr176fs) rs118203393
NM_000368.4(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209
NM_000368.4(TSC1):c.527_528del (p.Tyr176fs) rs118203394
NM_000368.4(TSC1):c.530del (p.Leu177fs) rs397514794
NM_000368.4(TSC1):c.531C>T (p.Leu177=) rs752615412
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.540C>T (p.Leu180=) rs201562103
NM_000368.4(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.4(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.4(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.4(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>G (p.Tyr185Ter)
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.4(TSC1):c.563_564del (p.Phe188fs) rs118203399
NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_000368.4(TSC1):c.569G>A (p.Arg190His)
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.569del (p.Arg190fs) rs118203401
NM_000368.4(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.4(TSC1):c.574T>C (p.Tyr192His) rs786202831
NM_000368.4(TSC1):c.575del (p.Tyr192fs) rs118203405
NM_000368.4(TSC1):c.576T>G (p.Tyr192Ter) rs118203406
NM_000368.4(TSC1):c.580A>C (p.Met194Leu)
NM_000368.4(TSC1):c.581T>C (p.Met194Thr)
NM_000368.4(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.4(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.4(TSC1):c.590_594del (p.Cys197fs) rs1064796162
NM_000368.4(TSC1):c.590dup (p.Cys197fs) rs397514868
NM_000368.4(TSC1):c.591dup (p.Asn198fs) rs397514836
NM_000368.4(TSC1):c.593A>G (p.Asn198Ser) rs577983115
NM_000368.4(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) rs118203408
NM_000368.4(TSC1):c.597C>T (p.Phe199=) rs202242304
NM_000368.4(TSC1):c.597_603del (p.Val200fs) rs118203409
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.4(TSC1):c.602C>T (p.Ser201Phe) rs1564498038
NM_000368.4(TSC1):c.602_604del (p.Ser201del) rs118203412
NM_000368.4(TSC1):c.607_608dup (p.Leu203fs) rs118203413
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.61G>T (p.Val21Leu)
NM_000368.4(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
NM_000368.4(TSC1):c.624del (p.Ser208fs) rs397514837
NM_000368.4(TSC1):c.625A>G (p.Met209Val) rs754980229
NM_000368.4(TSC1):c.637dup (p.Leu213fs) rs1114167620
NM_000368.4(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.4(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.4(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.651A>G (p.Glu217=)
NM_000368.4(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.4(TSC1):c.654dup (p.Val219fs) rs118203418
NM_000368.4(TSC1):c.658G>T (p.Val220Phe) rs397514830
NM_000368.4(TSC1):c.658del (p.Val220fs) rs1057518945
NM_000368.4(TSC1):c.65G>A (p.Arg22Gln) rs141736779
NM_000368.4(TSC1):c.65G>C (p.Arg22Pro) rs141736779
NM_000368.4(TSC1):c.661A>T (p.Lys221Ter) rs1564497826
NM_000368.4(TSC1):c.663+10A>C rs397514833
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.663+29A>G rs376472527
NM_000368.4(TSC1):c.663+35T>C
NM_000368.4(TSC1):c.663+39dup rs118203421
NM_000368.4(TSC1):c.663+7T>A rs118203420
NM_000368.4(TSC1):c.664-15A>G rs118203422
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.664-1G>C rs118203423
NM_000368.4(TSC1):c.664-6T>C
NM_000368.4(TSC1):c.665del (p.Pro222fs) rs118203425
NM_000368.4(TSC1):c.670A>T (p.Met224Leu) rs535397245
NM_000368.4(TSC1):c.671T>A (p.Met224Lys)
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.683G>A (p.Arg228Gln)
NM_000368.4(TSC1):c.689A>G (p.His230Arg)
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.4(TSC1):c.694del (p.Glu232fs) rs118203428
NM_000368.4(TSC1):c.69C>T (p.Asp23=) rs769282604
NM_000368.4(TSC1):c.709dup (p.Ser237fs) rs118203430
NM_000368.4(TSC1):c.70G>A (p.Asp24Asn)
NM_000368.4(TSC1):c.70del (p.Asp24fs) rs118203330
NM_000368.4(TSC1):c.712A>T (p.Lys238Ter) rs397514816
NM_000368.4(TSC1):c.720_721insA (p.Glu241fs) rs118203431
NM_000368.4(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.4(TSC1):c.725T>C (p.Leu242Pro) rs1554819388
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.732del (p.Arg245fs) rs118203433
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.734G>A (p.Arg245Gln) rs755859330
NM_000368.4(TSC1):c.734dup (p.Arg246fs)
NM_000368.4(TSC1):c.737+10C>T rs1554819375
NM_000368.4(TSC1):c.737+13G>A rs1057522693
NM_000368.4(TSC1):c.737+1G>A rs118203438
NM_000368.4(TSC1):c.737+1G>T rs118203438
NM_000368.4(TSC1):c.737+1del rs118203435
NM_000368.4(TSC1):c.737+283A>G
NM_000368.4(TSC1):c.737+2T>C rs1564497308
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.737G>C (p.Arg246Thr) rs118203436
NM_000368.4(TSC1):c.737_737+1dupGG rs118203435
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.738-1G>A rs1564490210
NM_000368.4(TSC1):c.738-20A>G rs397514824
NM_000368.4(TSC1):c.738-2A>G rs118203440
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.738-2_740delAGGTG rs1554817707
NM_000368.4(TSC1):c.738-36_747del rs397514839
NM_000368.4(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.4(TSC1):c.73G>A (p.Val25Met) rs1230244328
NM_000368.4(TSC1):c.742A>T (p.Lys248Ter) rs118203442
NM_000368.4(TSC1):c.745A>T (p.Arg249Ter) rs118203443
NM_000368.4(TSC1):c.745del (p.Arg249fs) rs118203444
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.4(TSC1):c.749T>G (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.4(TSC1):c.749dup (p.Leu250fs) rs118203445
NM_000368.4(TSC1):c.74dup (p.Thr26fs) rs886041959
NM_000368.4(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.4(TSC1):c.759T>A (p.His253Gln)
NM_000368.4(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.4(TSC1):c.771C>T (p.Ile257=) rs1060504854
NM_000368.4(TSC1):c.771del (p.Ile257fs) rs118203449
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.4(TSC1):c.774G>A (p.Glu258=) rs1554817678
NM_000368.4(TSC1):c.779C>T (p.Ala260Val)
NM_000368.4(TSC1):c.782A>C (p.Lys261Thr) rs371225009
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000368.4(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.4(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.4(TSC1):c.798C>T (p.Pro266=) rs770704462
NM_000368.4(TSC1):c.804A>G (p.Glu268=) rs753895570
NM_000368.4(TSC1):c.809C>T (p.Ser270Leu) rs878853968
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.810_811AT[1] (p.Ser270_Tyr271insTer) rs118203451
NM_000368.4(TSC1):c.813T>A (p.Tyr271Ter) rs118203452
NM_000368.4(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.4(TSC1):c.814G>T (p.Glu272Ter) rs397514872
NM_000368.4(TSC1):c.818A>G (p.Asp273Gly) rs768057796
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.824A>G (p.Tyr275Cys)
NM_000368.4(TSC1):c.824_825dup (p.Ser276fs) rs118203453
NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.4(TSC1):c.826T>C (p.Ser276Pro)
NM_000368.4(TSC1):c.829_830GT[1] (p.His279fs) rs118203455
NM_000368.4(TSC1):c.82G>C (p.Val28Leu)
NM_000368.4(TSC1):c.830T>C (p.Val277Ala) rs200749357
NM_000368.4(TSC1):c.832_833TC[1] (p.His279fs) rs118203457
NM_000368.4(TSC1):c.838C>T (p.Gln280Ter) rs118203458
NM_000368.4(TSC1):c.840A>G (p.Gln280=) rs1171852730
NM_000368.4(TSC1):c.845C>A (p.Ser282Ter) rs118203459
NM_000368.4(TSC1):c.846dup (p.Ala283fs) rs118203460
NM_000368.4(TSC1):c.848C>T (p.Ala283Val) rs1554817613
NM_000368.4(TSC1):c.850C>A (p.Arg284Ser) rs140544652
NM_000368.4(TSC1):c.850C>T (p.Arg284Cys) rs140544652
NM_000368.4(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) rs886041977
NM_000368.4(TSC1):c.850dup (p.Arg284fs) rs1554817612
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.857C>G (p.Pro286Arg) rs375144225
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.4(TSC1):c.86_90dup (p.Glu31fs) rs1564504869
NM_000368.4(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.4(TSC1):c.871G>A (p.Asp291Asn)
NM_000368.4(TSC1):c.871_886dup (p.Pro296fs)
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.878C>G (p.Thr293Ser)
NM_000368.4(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.4(TSC1):c.87T>C (p.Phe29=) rs745384145
NM_000368.4(TSC1):c.880A>T (p.Thr294Ser)
NM_000368.4(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.4(TSC1):c.884G>C (p.Ser295Thr)
NM_000368.4(TSC1):c.891T>A (p.Tyr297Ter) rs118203461
NM_000368.4(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.4(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.899C>T (p.Thr300Ile) rs370916731
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.901_913+1del rs118203465
NM_000368.4(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.4(TSC1):c.903G>C (p.Gln301His)
NM_000368.4(TSC1):c.912T>C (p.Tyr304=) rs118203466
NM_000368.4(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.4(TSC1):c.912_913+5del rs118203467
NM_000368.4(TSC1):c.913+1G>A rs118203470
NM_000368.4(TSC1):c.913+4A>C rs1178304676
NM_000368.4(TSC1):c.913+8G>C rs763784439
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.913G>T (p.Gly305Trp) rs118203468
NM_000368.4(TSC1):c.914-10T>C rs1554817441
NM_000368.4(TSC1):c.914-18T>C rs118203471
NM_000368.4(TSC1):c.914-2A>G rs886041638
NM_000368.4(TSC1):c.914-88_914-58T(27_30) rs11364856
NM_000368.4(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.921T>C (p.Ala307=) rs397514826
NM_000368.4(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.4(TSC1):c.929C>T (p.Thr310Ile)
NM_000368.4(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
NM_000368.4(TSC1):c.932C>G (p.Pro311Arg) rs776158460
NM_000368.4(TSC1):c.936C>A (p.Tyr312Ter) rs118203472
NM_000368.4(TSC1):c.938C>T (p.Ser313Phe)
NM_000368.4(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.942G>A (p.Thr314=) rs144208203
NM_000368.4(TSC1):c.943T>A (p.Ser315Thr) rs185815387
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049
NM_000368.4(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.4(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_000368.4(TSC1):c.959_965delTAAATAT
NM_000368.4(TSC1):c.960A>G (p.Leu320=) rs770183315
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.965_978del (p.Met322fs)
NM_000368.4(TSC1):c.966G>A (p.Met322Ile) rs397514807
NM_000368.4(TSC1):c.972G>A (p.Gly324=) rs118203473
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.4(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.4(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.4(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.4(TSC1):c.983dup (p.Thr329fs) rs118203475
NM_000368.4(TSC1):c.986_987CT[1] (p.Leu330fs) rs118203477
NM_000368.4(TSC1):c.988C>A (p.Leu330Met) rs1060503222
NM_000368.4(TSC1):c.988_989insGA (p.Leu330fs) rs1564488810
NM_000368.4(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.4(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.4(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) rs118203478
NM_000368.4(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4(TSC1):c.993T>A (p.Ser331Arg)
NM_000368.4(TSC1):c.994_995insA (p.Ser332fs) rs118203480
NM_000368.4(TSC1):c.997C>T (p.Pro333Ser) rs1057520994
NM_000368.4(TSC1):c.997_998del (p.Pro333fs) rs1564488773
NM_000368.4(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_000368.4:c.210+33G>A
NM_000368.4:c.2502+51A>G
TSC1:c.1142-22_1142-21del rs118203500
p.(=)

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