ClinVar Miner

List of variants in gene TSC1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP
GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1
NM_000368.4(TSC1):c.*14A>T rs200574927
NM_000368.4(TSC1):c.-11C>T rs570705364
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.-16G>A rs114970627
NM_000368.4(TSC1):c.-17C>T rs768441689
NM_000368.4(TSC1):c.-20C>T rs377001111
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.-80-5C>T rs1057523300
NM_000368.4(TSC1):c.-99C>T rs114755636
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>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1030-14T>A rs180810228
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
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.106+15A>G rs80258442
NM_000368.4(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.4(TSC1):c.107-1G>A rs1064793494
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.1097C>T (p.Pro366Leu) rs763915012
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.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
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.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.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1198_1199CT[1] (p.Cys401fs) rs1554817140
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>T (p.Ser403=)
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.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1263+106G>A
NM_000368.4(TSC1):c.1263+15G>A rs765809001
NM_000368.4(TSC1):c.1263+6_1263+8dup rs751182565
NM_000368.4(TSC1):c.1264-12T>C rs118203508
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.1324_1325AG[1] (p.Gly443fs) rs1064795285
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+9T>A rs747629498
NM_000368.4(TSC1):c.1334-174T>C
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1388del (p.Phe462_Leu463insTer) rs1064796237
NM_000368.4(TSC1):c.1429_1431del (p.Lys477del) rs796053469
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-13C>T rs1554816089
NM_000368.4(TSC1):c.1441del (p.Ala481fs) rs796053466
NM_000368.4(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) rs1064793693
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1509dup (p.Asp504Ter) rs796053470
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.1533dup (p.Leu512fs) rs1554816029
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
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.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1596C>T (p.Asn532=) rs759461471
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1696_1697insTC (p.Pro566fs) rs1064794760
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
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.1702_1703del (p.Gly568fs) rs397514777
NM_000368.4(TSC1):c.1713del (p.Glu571fs) rs796053471
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1727del (p.Leu576fs) rs886041684
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
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.1779A>G (p.Arg593=) rs964191879
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.1802C>T (p.Pro601Leu) rs543077026
NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
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.1974C>G (p.Asp658Glu) rs118203608
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
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.1997+133A>G
NM_000368.4(TSC1):c.1997+1G>A rs118203610
NM_000368.4(TSC1):c.1997+5G>C rs1554815679
NM_000368.4(TSC1):c.1998-19T>G rs184408837
NM_000368.4(TSC1):c.1998-2A>G rs1057518217
NM_000368.4(TSC1):c.2001_2004del (p.Leu667fs) rs1554815476
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
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.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+290T>C
NM_000368.4(TSC1):c.210+33G>A rs118203350
NM_000368.4(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.4(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) rs1057517842
NM_000368.4(TSC1):c.211-14dup rs397514775
NM_000368.4(TSC1):c.211-157G>A
NM_000368.4(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.4(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.4(TSC1):c.2156del (p.Leu719fs) rs886041456
NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
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+171A>G
NM_000368.4(TSC1):c.2208+17G>A rs1057523691
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.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
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.2311A>G (p.Met771Val) rs1057522203
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
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.2392-14G>A rs1057524717
NM_000368.4(TSC1):c.2392-16A>G rs758374143
NM_000368.4(TSC1):c.2392-222C>T
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
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.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2483_2486TCAG[1] (p.Ser829fs) rs886039735
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.2502+18A>C rs200908079
NM_000368.4(TSC1):c.2502+51A>G rs75802666
NM_000368.4(TSC1):c.2503-15A>G rs752540347
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
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.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.4(TSC1):c.2625+15G>A rs565234395
NM_000368.4(TSC1):c.2625+19G>A rs200135828
NM_000368.4(TSC1):c.2625+68G>A
NM_000368.4(TSC1):c.2626-3dup rs1554813639
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626G>T (p.Glu876Ter) rs747602915
NM_000368.4(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
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.2656A>T (p.Lys886Ter) rs1554813568
NM_000368.4(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
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.2896T>C (p.Tyr966His) rs767946427
NM_000368.4(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
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.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2975+127G>T
NM_000368.4(TSC1):c.2975+4G>C rs1057521710
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.3011T>C (p.Met1004Thr) rs757370776
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
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.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112_3114AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
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.3184C>T (p.Arg1062Trp) rs118203745
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.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.4(TSC1):c.3249T>C (p.Ser1083=)
NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) rs754282309
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
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.3336C>T (p.Ser1112=) rs761334590
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3397C>T (p.Leu1133=) rs1244090738
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
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.3420G>A (p.Pro1140=) rs763931959
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.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.363+3_363+18del rs1554820251
NM_000368.4(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
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.402G>A (p.Leu134=) rs147125501
NM_000368.4(TSC1):c.42G>A (p.Leu14=) rs762233181
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.508+18T>C rs1057522667
NM_000368.4(TSC1):c.508+3A>G rs1554819862
NM_000368.4(TSC1):c.508+99T>C
NM_000368.4(TSC1):c.509-15G>A rs118203391
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.4(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.4(TSC1):c.590_594del (p.Cys197fs) rs1064796162
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
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.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.651A>G (p.Glu217=)
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.663+35T>C
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
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+283A>G
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.737_737+1dup rs118203435
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.738-20A>G rs397514824
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) rs886041977
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.914-2A>G rs886041638
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) rs118203478
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4(TSC1):c.997C>T (p.Pro333Ser) rs1057520994
NM_001162426.2(TSC1):c.2038+5del rs1564479424
NM_001162426.2(TSC1):c.2623-4del rs5901000
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_001362177.2(TSC1):c.-186dup rs886041959

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